{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012538", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133294[alleleid]", "alleleId": 133294, "preferredName": "NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127837", "RCV": [ "RCV000115757", "RCV000235188", "RCV000411291", "RCV001818275" ], "variationId": 127837 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45797114-G-A", "id": "1-45797114-G-A", "variant": "1:45797114 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797114G>A?assembly=hg19", "id": "chr1:g.45797114G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45331442G>A?assembly=hg38", "id": "chr1:g.45331442G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587780084", "rs": 587780084 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45797114-G-A?dataset=gnomad_r2_1", "id": "1-45797114-G-A", "variant": "1:45797114 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331442-G-A?dataset=gnomad_r3", "id": "1-45331442-G-A", "variant": "1:45331442 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331442-G-A?dataset=gnomad_r4", "id": "1-45331442-G-A", "variant": "1:45331442 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45331442, "referenceAllele": "G", "start": 45331441 } ], "hgvs": [ "NC_000001.11:g.45331442G>A", "CM000663.2:g.45331442G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45797114, "referenceAllele": "G", "start": 45797113 } ], "hgvs": [ "NC_000001.10:g.45797114G>A", "CM000663.1:g.45797114G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45569701, "referenceAllele": "G", "start": 45569700 } ], "hgvs": [ "NC_000001.9:g.45569701G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 14029, "referenceAllele": "C", "start": 14028 } ], "hgvs": [ "NG_008189.1:g.14029C>T", "LRG_220:g.14029C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.833C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Thr278Met", "hgvsWellDefined": "ENSP00000410263.2:p.Thr278Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.1250C>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Thr417Met", "hgvsWellDefined": "ENSP00000403655.2:p.Thr417Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "C", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.*79C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:n.*79C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "T", "end": 1741, "referenceAllele": "C", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.1235C>T" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Thr412Met", "hgvsWellDefined": "ENSP00000436469.2:p.Thr412Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Thr406Met", "hgvsWellDefined": "ENSP00000431264.2:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.1070C>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Thr357Met", "hgvsWellDefined": "ENSP00000432528.2:p.Thr357Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*546C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*546C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Thr406Met", "hgvsWellDefined": "ENSP00000500828.2:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1301C>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Thr434Met", "hgvsWellDefined": "ENSP00000518552.2:p.Thr434Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1301C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1301C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Thr434Met" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Thr434Met" } } } }, { "coordinates": [ { "allele": "T", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1292C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Thr431Met", "hgvsWellDefined": "ENSP00000500891.1:p.Thr431Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "C", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Thr406Met", "hgvsWellDefined": "ENSP00000407590.2:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1217C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1217C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Thr406Met" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Thr406Met" } } } }, { "coordinates": [ { "allele": "T", "end": 2195, "referenceAllele": "C", "start": 2194 } ], "hgvs": [ "ENST00000671898.1:c.1805C>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Thr602Met", "hgvsWellDefined": "ENSP00000499896.1:p.Thr602Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*546C>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*546C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Thr406Met", "hgvsWellDefined": "ENSP00000500828.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 2027, "referenceAllele": "C", "start": 2026 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*1443C>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*1443C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1292C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Thr431Met", "hgvsWellDefined": "ENSP00000500891.1:p.Thr431Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*914C>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*914C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.1220C>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Thr407Met", "hgvsWellDefined": "ENSP00000346354.6:p.Thr407Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Thr406Met", "hgvsWellDefined": "ENSP00000347685.2:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1292C>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Thr431Met", "hgvsWellDefined": "ENSP00000361170.3:p.Thr431Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Thr406Met", "hgvsWellDefined": "ENSP00000361176.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1262C>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Thr421Met", "hgvsWellDefined": "ENSP00000361182.3:p.Thr421Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 1475, "referenceAllele": "C", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1259C>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Thr420Met", "hgvsWellDefined": "ENSP00000361187.3:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.1250C>T" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Thr417Met", "hgvsWellDefined": "ENSP00000409718.1:p.Thr417Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1301C>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Thr434Met", "hgvsWellDefined": "ENSP00000408176.1:p.Thr434Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "C", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.1217C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Thr406Met", "hgvsWellDefined": "ENSP00000407590.2:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "T", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.634C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:n.634C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*1030C>T" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*1030C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*1030C>T" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*1030C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.302C>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:p.Thr101Met", "hgvsWellDefined": "ENSP00000432330.1:p.Thr101Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1259C>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Thr420Met", "hgvsWellDefined": "ENSP00000433130.2:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.292C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.302C>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:p.Thr101Met", "hgvsWellDefined": "ENSP00000437093.1:p.Thr101Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "-", "endIntronOffset": 2004, "referenceAllele": "C", "start": 309, "startIntronDirection": "-", "startIntronOffset": 2005 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-2005C>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-2005C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.846C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.846C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "T", "end": 1475, "referenceAllele": "C", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1259C>T" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Thr420Met", "hgvsWellDefined": "NP_001041636.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428642", "coordinates": [ { "allele": "T", "end": 1366, "referenceAllele": "C", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.1220C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Thr407Met", "hgvsWellDefined": "NP_001041637.1:p.Thr407Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825430258", "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Thr406Met", "hgvsWellDefined": "NP_001041638.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431868", "coordinates": [ { "allele": "T", "end": 1282, "referenceAllele": "C", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Thr406Met", "hgvsWellDefined": "NP_001041639.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA287864", "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1301C>T", "LRG_220t1:c.1301C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Thr434Met", "hgvsWellDefined": "NP_001121897.1:p.Thr434Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826824306", "coordinates": [ { "allele": "T", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1262C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Thr421Met", "hgvsWellDefined": "NP_001280119.1:p.Thr421Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825945", "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "C", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.1250C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Thr417Met", "hgvsWellDefined": "NP_001280120.1:p.Thr417Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826827278", "coordinates": [ { "allele": "T", "end": 1411, "referenceAllele": "C", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.941C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Thr314Met", "hgvsWellDefined": "NP_001280121.1:p.Thr314Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828878", "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Thr406Met", "hgvsWellDefined": "NP_001280124.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826830057", "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.941C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Thr314Met", "hgvsWellDefined": "NP_001280125.1:p.Thr314Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726754", "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "C", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1292C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Thr431Met", "hgvsWellDefined": "NP_036354.1:p.Thr431Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1277C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Thr426Met", "hgvsWellDefined": "XP_011539799.1:p.Thr426Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Thr420Met", "hgvsWellDefined": "XP_011539800.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Thr420Met", "hgvsWellDefined": "XP_011539801.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Thr420Met", "hgvsWellDefined": "XP_011539802.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 1463, "referenceAllele": "C", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Thr420Met", "hgvsWellDefined": "XP_011539803.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Thr420Met", "hgvsWellDefined": "XP_011539804.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Thr420Met", "hgvsWellDefined": "XP_011539805.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.1250C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Thr417Met", "hgvsWellDefined": "XP_011539806.1:p.Thr417Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.839C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Thr280Met", "hgvsWellDefined": "XP_011539807.1:p.Thr280Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.839C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Thr280Met", "hgvsWellDefined": "XP_011539808.1:p.Thr280Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.830C>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Thr277Met", "hgvsWellDefined": "XP_011539809.1:p.Thr277Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.845C>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Thr282Met", "hgvsWellDefined": "XP_011539810.1:p.Thr282Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1348C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827557228", "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.872C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Thr291Met", "hgvsWellDefined": "NP_001337579.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558443", "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.872C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Thr291Met", "hgvsWellDefined": "NP_001337580.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 1475, "referenceAllele": "C", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1475C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1289C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1575, "referenceAllele": "C", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1277C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Thr426Met", "hgvsWellDefined": "XP_011539799.1:p.Thr426Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 1553, "referenceAllele": "C", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Thr420Met", "hgvsWellDefined": "XP_011539802.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Thr420Met", "hgvsWellDefined": "XP_011539803.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Thr420Met", "hgvsWellDefined": "XP_011539804.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Thr420Met", "hgvsWellDefined": "XP_011539805.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "C", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.1250C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Thr417Met", "hgvsWellDefined": "XP_011539806.1:p.Thr417Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.839C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Thr280Met", "hgvsWellDefined": "XP_011539807.1:p.Thr280Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.839C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Thr280Met", "hgvsWellDefined": "XP_011539808.1:p.Thr280Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "C", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Thr420Met", "hgvsWellDefined": "XP_016856820.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Thr420Met", "hgvsWellDefined": "XP_016856821.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1259C>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Thr420Met", "hgvsWellDefined": "XP_016856822.1:p.Thr420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "C", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.1220C>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Thr407Met", "hgvsWellDefined": "XP_016856823.1:p.Thr407Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.941C>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Thr314Met", "hgvsWellDefined": "XP_016856824.1:p.Thr314Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.872C>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Thr291Met", "hgvsWellDefined": "XP_016856825.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.872C>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Thr291Met", "hgvsWellDefined": "XP_016856826.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.872C>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Thr291Met", "hgvsWellDefined": "XP_024303012.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.872C>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Thr291Met", "hgvsWellDefined": "XP_024303013.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.830C>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Thr277Met", "hgvsWellDefined": "XP_024303016.1:p.Thr277Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.701C>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Thr234Met", "hgvsWellDefined": "XP_024303017.1:p.Thr234Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.701C>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Thr234Met", "hgvsWellDefined": "XP_024303018.1:p.Thr234Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.701C>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Thr234Met", "hgvsWellDefined": "XP_024303019.1:p.Thr234Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.1074C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.1254C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1789C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "C", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1362C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825427034", "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Thr406Met", "hgvsWellDefined": "NP_001041636.2:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA287864", "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1301C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Thr434Met", "hgvsWellDefined": "NP_001121897.1:p.Thr434Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1301C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1301C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Thr434Met" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Thr434Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428642", "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "C", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.1220C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Thr407Met", "hgvsWellDefined": "NP_001041637.1:p.Thr407Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825430258", "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Thr406Met", "hgvsWellDefined": "NP_001041638.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431868", "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "C", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Thr406Met", "hgvsWellDefined": "NP_001041639.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1217C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1217C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Thr406Met" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Thr406Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2826824306", "coordinates": [ { "allele": "T", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1262C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Thr421Met", "hgvsWellDefined": "NP_001280119.1:p.Thr421Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825945", "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1250C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Thr417Met", "hgvsWellDefined": "NP_001280120.1:p.Thr417Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826827278", "coordinates": [ { "allele": "T", "end": 1381, "referenceAllele": "C", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.941C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Thr314Met", "hgvsWellDefined": "NP_001280121.1:p.Thr314Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828878", "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1217C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Thr406Met", "hgvsWellDefined": "NP_001280124.1:p.Thr406Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826830057", "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.941C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Thr314Met", "hgvsWellDefined": "NP_001280125.1:p.Thr314Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827557228", "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "C", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.872C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Thr291Met", "hgvsWellDefined": "NP_001337579.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558443", "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.872C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Thr291Met", "hgvsWellDefined": "NP_001337580.1:p.Thr291Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726754", "coordinates": [ { "allele": "T", "end": 1478, "referenceAllele": "C", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1292C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Thr431Met", "hgvsWellDefined": "NP_036354.1:p.Thr431Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1445C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1294C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }