{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012579", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138603[alleleid]", "alleleId": 138603, "preferredName": "NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134864", "RCV": [ "RCV000121597", "RCV000206561", "RCV000214371", "RCV000590752" ], "variationId": 134864 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45797106-G-A", "id": "1-45797106-G-A", "variant": "1:45797106 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797106G>A?assembly=hg19", "id": "chr1:g.45797106G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45331434G>A?assembly=hg38", "id": "chr1:g.45331434G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587778540", "rs": 587778540 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45797106-G-A?dataset=gnomad_r2_1", "id": "1-45797106-G-A", "variant": "1:45797106 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331434-G-A?dataset=gnomad_r3", "id": "1-45331434-G-A", "variant": "1:45331434 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331434-G-A?dataset=gnomad_r4", "id": "1-45331434-G-A", "variant": "1:45331434 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45331434, "referenceAllele": "G", "start": 45331433 } ], "hgvs": [ "NC_000001.11:g.45331434G>A", "CM000663.2:g.45331434G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45797106, "referenceAllele": "G", "start": 45797105 } ], "hgvs": [ "NC_000001.10:g.45797106G>A", "CM000663.1:g.45797106G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45569693, "referenceAllele": "G", "start": 45569692 } ], "hgvs": [ "NC_000001.9:g.45569693G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 14037, "referenceAllele": "C", "start": 14036 } ], "hgvs": [ "NG_008189.1:g.14037C>T", "LRG_220:g.14037C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.841C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Arg281Trp", "hgvsWellDefined": "ENSP00000410263.2:p.Arg281Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.1258C>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Arg420Trp", "hgvsWellDefined": "ENSP00000403655.2:p.Arg420Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.*87C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:n.*87C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "C", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.1243C>T" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Arg415Trp", "hgvsWellDefined": "ENSP00000436469.2:p.Arg415Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "T", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Arg409Trp", "hgvsWellDefined": "ENSP00000431264.2:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Arg360Trp", "hgvsWellDefined": "ENSP00000432528.2:p.Arg360Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*554C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 2355, "referenceAllele": "C", "start": 2354 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Arg409Trp", "hgvsWellDefined": "ENSP00000500828.2:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1309C>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Arg437Trp", "hgvsWellDefined": "ENSP00000518552.2:p.Arg437Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1309C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1309C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg437Trp" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg437Trp" } } } }, { "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "C", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1300C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg434Trp", "hgvsWellDefined": "ENSP00000500891.1:p.Arg434Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg409Trp", "hgvsWellDefined": "ENSP00000407590.2:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1225C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1225C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg409Trp" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg409Trp" } } } }, { "coordinates": [ { "allele": "T", "end": 2203, "referenceAllele": "C", "start": 2202 } ], "hgvs": [ "ENST00000671898.1:c.1813C>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Arg605Trp", "hgvsWellDefined": "ENSP00000499896.1:p.Arg605Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*554C>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*554C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 2355, "referenceAllele": "C", "start": 2354 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Arg409Trp", "hgvsWellDefined": "ENSP00000500828.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 2035, "referenceAllele": "C", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*1451C>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*1451C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1300C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg434Trp", "hgvsWellDefined": "ENSP00000500891.1:p.Arg434Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*922C>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*922C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.1228C>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Arg410Trp", "hgvsWellDefined": "ENSP00000346354.6:p.Arg410Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "C", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Arg409Trp", "hgvsWellDefined": "ENSP00000347685.2:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1300C>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Arg434Trp", "hgvsWellDefined": "ENSP00000361170.3:p.Arg434Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Arg409Trp", "hgvsWellDefined": "ENSP00000361176.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1270C>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Arg424Trp", "hgvsWellDefined": "ENSP00000361182.3:p.Arg424Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Arg423Trp", "hgvsWellDefined": "ENSP00000361187.3:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "C", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.1258C>T" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Arg420Trp", "hgvsWellDefined": "ENSP00000409718.1:p.Arg420Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "C", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1309C>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Arg437Trp", "hgvsWellDefined": "ENSP00000408176.1:p.Arg437Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.1225C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg409Trp", "hgvsWellDefined": "ENSP00000407590.2:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.642C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:n.642C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*1038C>T" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*1038C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*1038C>T" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*1038C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.546C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:p.Arg104Trp", "hgvsWellDefined": "ENSP00000432330.1:p.Arg104Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Arg423Trp", "hgvsWellDefined": "ENSP00000433130.2:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "T", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:p.Arg104Trp", "hgvsWellDefined": "ENSP00000437093.1:p.Arg104Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "-", "endIntronOffset": 1996, "referenceAllele": "C", "start": 309, "startIntronDirection": "-", "startIntronOffset": 1997 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-1997C>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-1997C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.854C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.854C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1267C>T" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Arg423Trp", "hgvsWellDefined": "NP_001041636.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428662", "coordinates": [ { "allele": "T", "end": 1374, "referenceAllele": "C", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.1228C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg410Trp", "hgvsWellDefined": "NP_001041637.1:p.Arg410Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825430274", "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "C", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg409Trp", "hgvsWellDefined": "NP_001041638.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431882", "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg409Trp", "hgvsWellDefined": "NP_001041639.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA332162", "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "C", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1309C>T", "LRG_220t1:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg437Trp", "hgvsWellDefined": "NP_001121897.1:p.Arg437Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826824322", "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "C", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1270C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg424Trp", "hgvsWellDefined": "NP_001280119.1:p.Arg424Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825959", "coordinates": [ { "allele": "T", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.1258C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg420Trp", "hgvsWellDefined": "NP_001280120.1:p.Arg420Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826827294", "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg317Trp", "hgvsWellDefined": "NP_001280121.1:p.Arg317Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828895", "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg409Trp", "hgvsWellDefined": "NP_001280124.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826830074", "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg317Trp", "hgvsWellDefined": "NP_001280125.1:p.Arg317Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726766", "coordinates": [ { "allele": "T", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1300C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg434Trp", "hgvsWellDefined": "NP_036354.1:p.Arg434Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1588, "referenceAllele": "C", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1285C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg429Trp", "hgvsWellDefined": "XP_011539799.1:p.Arg429Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539800.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539801.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539802.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539803.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539804.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 1314, "referenceAllele": "C", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539805.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "C", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.1258C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg420Trp", "hgvsWellDefined": "XP_011539806.1:p.Arg420Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.847C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg283Trp", "hgvsWellDefined": "XP_011539807.1:p.Arg283Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.847C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg283Trp", "hgvsWellDefined": "XP_011539808.1:p.Arg283Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.838C>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Arg280Trp", "hgvsWellDefined": "XP_011539809.1:p.Arg280Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.853C>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Arg285Trp", "hgvsWellDefined": "XP_011539810.1:p.Arg285Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1356C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827557246", "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.880C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg294Trp", "hgvsWellDefined": "NP_001337579.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558459", "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.880C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg294Trp", "hgvsWellDefined": "NP_001337580.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1297C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "C", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1285C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg429Trp", "hgvsWellDefined": "XP_011539799.1:p.Arg429Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539802.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539803.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "C", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539804.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg423Trp", "hgvsWellDefined": "XP_011539805.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.1258C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg420Trp", "hgvsWellDefined": "XP_011539806.1:p.Arg420Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.847C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg283Trp", "hgvsWellDefined": "XP_011539807.1:p.Arg283Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.847C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg283Trp", "hgvsWellDefined": "XP_011539808.1:p.Arg283Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 1359, "referenceAllele": "C", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Arg423Trp", "hgvsWellDefined": "XP_016856820.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Arg423Trp", "hgvsWellDefined": "XP_016856821.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1267C>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Arg423Trp", "hgvsWellDefined": "XP_016856822.1:p.Arg423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.1228C>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Arg410Trp", "hgvsWellDefined": "XP_016856823.1:p.Arg410Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.949C>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Arg317Trp", "hgvsWellDefined": "XP_016856824.1:p.Arg317Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.880C>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Arg294Trp", "hgvsWellDefined": "XP_016856825.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.880C>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Arg294Trp", "hgvsWellDefined": "XP_016856826.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 1302, "referenceAllele": "C", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.880C>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Arg294Trp", "hgvsWellDefined": "XP_024303012.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.880C>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Arg294Trp", "hgvsWellDefined": "XP_024303013.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "C", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.838C>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Arg280Trp", "hgvsWellDefined": "XP_024303016.1:p.Arg280Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.709C>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Arg237Trp", "hgvsWellDefined": "XP_024303017.1:p.Arg237Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.709C>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Arg237Trp", "hgvsWellDefined": "XP_024303018.1:p.Arg237Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.709C>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Arg237Trp", "hgvsWellDefined": "XP_024303019.1:p.Arg237Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1270C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.1082C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.1262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1797C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1370C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825427049", "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Arg409Trp", "hgvsWellDefined": "NP_001041636.2:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA332162", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "C", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1309C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg437Trp", "hgvsWellDefined": "NP_001121897.1:p.Arg437Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1309C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1309C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg437Trp" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg437Trp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428662", "coordinates": [ { "allele": "T", "end": 1379, "referenceAllele": "C", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.1228C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg410Trp", "hgvsWellDefined": "NP_001041637.1:p.Arg410Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825430274", "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg409Trp", "hgvsWellDefined": "NP_001041638.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431882", "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg409Trp", "hgvsWellDefined": "NP_001041639.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1225C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1225C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg409Trp" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg409Trp" } } } }, { "@id": "http://reg.genome.network/allele/PA2826824322", "coordinates": [ { "allele": "T", "end": 1456, "referenceAllele": "C", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1270C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg424Trp", "hgvsWellDefined": "NP_001280119.1:p.Arg424Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825959", "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1258C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg420Trp", "hgvsWellDefined": "NP_001280120.1:p.Arg420Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826827294", "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg317Trp", "hgvsWellDefined": "NP_001280121.1:p.Arg317Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828895", "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg409Trp", "hgvsWellDefined": "NP_001280124.1:p.Arg409Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826830074", "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.949C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg317Trp", "hgvsWellDefined": "NP_001280125.1:p.Arg317Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827557246", "coordinates": [ { "allele": "T", "end": 1379, "referenceAllele": "C", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.880C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg294Trp", "hgvsWellDefined": "NP_001337579.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558459", "coordinates": [ { "allele": "T", "end": 1315, "referenceAllele": "C", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.880C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg294Trp", "hgvsWellDefined": "NP_001337580.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726766", "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "C", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1300C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg434Trp", "hgvsWellDefined": "NP_036354.1:p.Arg434Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1453C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 1302, "referenceAllele": "C", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1302C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }