{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340133193", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.1103G>T (p.Gly368Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=628073[alleleid]", "alleleId": 628073, "preferredName": "NM_001048174.2(MUTYH):c.1103G>T (p.Gly368Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/645786", "RCV": [ "RCV000799940" ], "variationId": 645786 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797228C>A?assembly=hg19", "id": "chr1:g.45797228C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45331556C>A?assembly=hg38", "id": "chr1:g.45331556C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/36053993", "rs": 36053993 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331556-C-A?dataset=gnomad_r4", "id": "1-45331556-C-A", "variant": "1:45331556 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45331556, "referenceAllele": "C", "start": 45331555 } ], "hgvs": [ "NC_000001.11:g.45331556C>A", "CM000663.2:g.45331556C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45797228, "referenceAllele": "C", "start": 45797227 } ], "hgvs": [ "NC_000001.10:g.45797228C>A", "CM000663.1:g.45797228C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45569815, "referenceAllele": "C", "start": 45569814 } ], "hgvs": [ "NC_000001.9:g.45569815C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 13915, "referenceAllele": "G", "start": 13914 } ], "hgvs": [ "NG_008189.1:g.13915G>T", "LRG_220:g.13915G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "G", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.719G>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Gly240Val", "hgvsWellDefined": "ENSP00000410263.2:p.Gly240Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.1136G>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Gly379Val", "hgvsWellDefined": "ENSP00000403655.2:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.1126G>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Val376Phe", "hgvsWellDefined": "ENSP00000435889.2:p.Val376Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "T", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.1121G>T" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Gly374Val", "hgvsWellDefined": "ENSP00000436469.2:p.Gly374Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Gly368Val", "hgvsWellDefined": "ENSP00000431264.2:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.956G>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Gly319Val", "hgvsWellDefined": "ENSP00000432528.2:p.Gly319Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "G", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*432G>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*432G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 2233, "referenceAllele": "G", "start": 2232 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Gly368Val", "hgvsWellDefined": "ENSP00000500828.2:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1187G>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Gly396Val", "hgvsWellDefined": "ENSP00000518552.2:p.Gly396Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1187G>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1187G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Gly396Val" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Gly396Val" } } } }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1178G>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Gly393Val", "hgvsWellDefined": "ENSP00000500891.1:p.Gly393Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Gly368Val", "hgvsWellDefined": "ENSP00000407590.2:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1103G>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1103G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Gly368Val" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Gly368Val" } } } }, { "coordinates": [ { "allele": "T", "end": 2081, "referenceAllele": "G", "start": 2080 } ], "hgvs": [ "ENST00000671898.1:c.1691G>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Gly564Val", "hgvsWellDefined": "ENSP00000499896.1:p.Gly564Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*432G>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*432G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 2233, "referenceAllele": "G", "start": 2232 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Gly368Val", "hgvsWellDefined": "ENSP00000500828.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*1329G>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*1329G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "G", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1178G>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Gly393Val", "hgvsWellDefined": "ENSP00000500891.1:p.Gly393Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*800G>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*800G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "G", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.1106G>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Gly369Val", "hgvsWellDefined": "ENSP00000346354.6:p.Gly369Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Gly368Val", "hgvsWellDefined": "ENSP00000347685.2:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "G", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1178G>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Gly393Val", "hgvsWellDefined": "ENSP00000361170.3:p.Gly393Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Gly368Val", "hgvsWellDefined": "ENSP00000361176.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 1282, "referenceAllele": "G", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1148G>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Gly383Val", "hgvsWellDefined": "ENSP00000361182.3:p.Gly383Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1145G>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Gly382Val", "hgvsWellDefined": "ENSP00000361187.3:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "G", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.1136G>T" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Gly379Val", "hgvsWellDefined": "ENSP00000409718.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "G", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1187G>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Gly396Val", "hgvsWellDefined": "ENSP00000408176.1:p.Gly396Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "G", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.1103G>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Gly368Val", "hgvsWellDefined": "ENSP00000407590.2:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.520G>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Val174Phe", "hgvsWellDefined": "ENSP00000435889.1:p.Val174Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "G", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*916G>T" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*916G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "G", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*916G>T" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*916G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.424G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.188G>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:p.Gly63Val", "hgvsWellDefined": "ENSP00000432330.1:p.Gly63Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "G", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1145G>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Gly382Val", "hgvsWellDefined": "ENSP00000433130.2:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.178G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.188G>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:p.Gly63Val", "hgvsWellDefined": "ENSP00000437093.1:p.Gly63Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "-", "endIntronOffset": 2118, "referenceAllele": "G", "start": 309, "startIntronDirection": "-", "startIntronOffset": 2119 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-2119G>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-2119G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "G", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.732G>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.732G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1145G>T" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Gly382Val", "hgvsWellDefined": "NP_001041636.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428523", "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "G", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.1106G>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Gly369Val", "hgvsWellDefined": "NP_001041637.1:p.Gly369Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825430134", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Gly368Val", "hgvsWellDefined": "NP_001041638.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431744", "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "G", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Gly368Val", "hgvsWellDefined": "NP_001041639.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA915971116", "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "G", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1187G>T", "LRG_220t1:c.1187G>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Gly396Val", "hgvsWellDefined": "NP_001121897.1:p.Gly396Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826824180", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1148G>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Gly383Val", "hgvsWellDefined": "NP_001280119.1:p.Gly383Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825825", "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "G", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.1136G>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Gly379Val", "hgvsWellDefined": "NP_001280120.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826827155", "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.827G>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Gly276Val", "hgvsWellDefined": "NP_001280121.1:p.Gly276Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828760", "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Gly368Val", "hgvsWellDefined": "NP_001280124.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829935", "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.827G>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Gly276Val", "hgvsWellDefined": "NP_001280125.1:p.Gly276Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726631", "coordinates": [ { "allele": "T", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1178G>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Gly393Val", "hgvsWellDefined": "NP_036354.1:p.Gly393Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1466, "referenceAllele": "G", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1163G>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Gly388Val", "hgvsWellDefined": "XP_011539799.1:p.Gly388Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 1238, "referenceAllele": "G", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Gly382Val", "hgvsWellDefined": "XP_011539800.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Gly382Val", "hgvsWellDefined": "XP_011539801.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Gly382Val", "hgvsWellDefined": "XP_011539802.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Gly382Val", "hgvsWellDefined": "XP_011539803.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 1382, "referenceAllele": "G", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Gly382Val", "hgvsWellDefined": "XP_011539804.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Gly382Val", "hgvsWellDefined": "XP_011539805.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.1136G>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Gly379Val", "hgvsWellDefined": "XP_011539806.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.725G>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Gly242Val", "hgvsWellDefined": "XP_011539807.1:p.Gly242Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.725G>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Gly242Val", "hgvsWellDefined": "XP_011539808.1:p.Gly242Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "G", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.716G>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Gly239Val", "hgvsWellDefined": "XP_011539809.1:p.Gly239Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "G", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.731G>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Gly244Val", "hgvsWellDefined": "XP_011539810.1:p.Gly244Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1234G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827557105", "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.758G>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Gly253Val", "hgvsWellDefined": "NP_001337579.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558322", "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "G", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.758G>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Gly253Val", "hgvsWellDefined": "NP_001337580.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1361G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1175G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1461, "referenceAllele": "G", "start": 1460 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1163G>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Gly388Val", "hgvsWellDefined": "XP_011539799.1:p.Gly388Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Gly382Val", "hgvsWellDefined": "XP_011539802.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Gly382Val", "hgvsWellDefined": "XP_011539803.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 1238, "referenceAllele": "G", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Gly382Val", "hgvsWellDefined": "XP_011539804.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Gly382Val", "hgvsWellDefined": "XP_011539805.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.1136G>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Gly379Val", "hgvsWellDefined": "XP_011539806.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.725G>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Gly242Val", "hgvsWellDefined": "XP_011539807.1:p.Gly242Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "G", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.725G>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Gly242Val", "hgvsWellDefined": "XP_011539808.1:p.Gly242Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Gly382Val", "hgvsWellDefined": "XP_016856820.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "G", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Gly382Val", "hgvsWellDefined": "XP_016856821.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1145G>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Gly382Val", "hgvsWellDefined": "XP_016856822.1:p.Gly382Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.1106G>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Gly369Val", "hgvsWellDefined": "XP_016856823.1:p.Gly369Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.827G>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Gly276Val", "hgvsWellDefined": "XP_016856824.1:p.Gly276Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "G", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.758G>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Gly253Val", "hgvsWellDefined": "XP_016856825.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.758G>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Gly253Val", "hgvsWellDefined": "XP_016856826.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "G", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.758G>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Gly253Val", "hgvsWellDefined": "XP_024303012.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "G", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.758G>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Gly253Val", "hgvsWellDefined": "XP_024303013.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.716G>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Gly239Val", "hgvsWellDefined": "XP_024303016.1:p.Gly239Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1448, "referenceAllele": "G", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.587G>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Gly196Val", "hgvsWellDefined": "XP_024303017.1:p.Gly196Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "G", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.587G>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Gly196Val", "hgvsWellDefined": "XP_024303018.1:p.Gly196Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "G", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.587G>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Gly196Val", "hgvsWellDefined": "XP_024303019.1:p.Gly196Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 1148, "referenceAllele": "G", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1148G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.960G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.1140G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1675, "referenceAllele": "G", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1675G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1248G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426914", "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Gly368Val", "hgvsWellDefined": "NP_001041636.2:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA915971116", "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1187G>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Gly396Val", "hgvsWellDefined": "NP_001121897.1:p.Gly396Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1187G>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1187G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Gly396Val" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Gly396Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428523", "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.1106G>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Gly369Val", "hgvsWellDefined": "NP_001041637.1:p.Gly369Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825430134", "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Gly368Val", "hgvsWellDefined": "NP_001041638.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431744", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Gly368Val", "hgvsWellDefined": "NP_001041639.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1103G>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1103G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Gly368Val" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Gly368Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2826824180", "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1148G>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Gly383Val", "hgvsWellDefined": "NP_001280119.1:p.Gly383Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825825", "coordinates": [ { "allele": "T", "end": 1214, "referenceAllele": "G", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1136G>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Gly379Val", "hgvsWellDefined": "NP_001280120.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826827155", "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.827G>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Gly276Val", "hgvsWellDefined": "NP_001280121.1:p.Gly276Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828760", "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1103G>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Gly368Val", "hgvsWellDefined": "NP_001280124.1:p.Gly368Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829935", "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.827G>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Gly276Val", "hgvsWellDefined": "NP_001280125.1:p.Gly276Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827557105", "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.758G>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Gly253Val", "hgvsWellDefined": "NP_001337579.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558322", "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.758G>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Gly253Val", "hgvsWellDefined": "NP_001337580.1:p.Gly253Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726631", "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1178G>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Gly393Val", "hgvsWellDefined": "NP_036354.1:p.Gly393Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 1331, "referenceAllele": "G", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1331G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "G", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1180G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }