{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA059578", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.828C>G (p.Ser276Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232240[alleleid]", "alleleId": 232240, "preferredName": "NM_001048174.2(MUTYH):c.828C>G (p.Ser276Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/230638", "RCV": [ "RCV000215490", "RCV000704136", "RCV001284023" ], "variationId": 230638 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45797859-G-C", "id": "1-45797859-G-C", "variant": "1:45797859 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797859G>C?assembly=hg19", "id": "chr1:g.45797859G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332187G>C?assembly=hg38", "id": "chr1:g.45332187G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767805597", "rs": 767805597 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45797859-G-C?dataset=gnomad_r2_1", "id": "1-45797859-G-C", "variant": "1:45797859 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332187-G-C?dataset=gnomad_r3", "id": "1-45332187-G-C", "variant": "1:45332187 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332187-G-C?dataset=gnomad_r4", "id": "1-45332187-G-C", "variant": "1:45332187 G / C" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45332187, "referenceAllele": "G", "start": 45332186 } ], "hgvs": [ "NC_000001.11:g.45332187G>C", "CM000663.2:g.45332187G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45797859, "referenceAllele": "G", "start": 45797858 } ], "hgvs": [ "NC_000001.10:g.45797859G>C", "CM000663.1:g.45797859G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45570446, "referenceAllele": "G", "start": 45570445 } ], "hgvs": [ "NC_000001.9:g.45570446G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 13284, "referenceAllele": "C", "start": 13283 } ], "hgvs": [ "NG_008189.1:g.13284C>G", "LRG_220:g.13284C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.444C>G" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Ser148Arg", "hgvsWellDefined": "ENSP00000410263.2:p.Ser148Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "G", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.861C>G" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Ser287Arg", "hgvsWellDefined": "ENSP00000403655.2:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Ser276Arg", "hgvsWellDefined": "ENSP00000435889.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "G", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Ser282Arg", "hgvsWellDefined": "ENSP00000436469.2:p.Ser282Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "G", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Ser276Arg", "hgvsWellDefined": "ENSP00000431264.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "G", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.870C>G" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Ser290Arg", "hgvsWellDefined": "ENSP00000432528.2:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "G", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*157C>G" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*157C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "G", "end": 1958, "referenceAllele": "C", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Ser276Arg", "hgvsWellDefined": "ENSP00000500828.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "G", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.912C>G" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Ser304Arg", "hgvsWellDefined": "ENSP00000518552.2:p.Ser304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.912C>G" }, "RefSeq": { "hgvs": "NM_001128425.2:c.912C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Ser304Arg" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Ser304Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.903C>G" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Ser301Arg", "hgvsWellDefined": "ENSP00000500891.1:p.Ser301Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Ser276Arg", "hgvsWellDefined": "ENSP00000407590.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.828C>G" }, "RefSeq": { "hgvs": "NM_001048174.2:c.828C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Ser276Arg" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Ser276Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*567C>G" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*567C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "G", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "hgvs": [ "ENST00000671898.1:c.1416C>G" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Ser472Arg", "hgvsWellDefined": "ENSP00000499896.1:p.Ser472Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "G", "end": 1435, "referenceAllele": "C", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*157C>G" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*157C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "G", "end": 1958, "referenceAllele": "C", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Ser276Arg", "hgvsWellDefined": "ENSP00000500828.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "G", "end": 1465, "referenceAllele": "C", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*881C>G" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*881C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "G", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.*157C>G" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.*157C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.903C>G" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Ser301Arg", "hgvsWellDefined": "ENSP00000500891.1:p.Ser301Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "G", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*525C>G" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*525C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "G", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.831C>G" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Ser277Arg", "hgvsWellDefined": "ENSP00000346354.6:p.Ser277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "G", "end": 974, "referenceAllele": "C", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Ser276Arg", "hgvsWellDefined": "ENSP00000347685.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.903C>G" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Ser301Arg", "hgvsWellDefined": "ENSP00000361170.3:p.Ser301Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "G", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Ser276Arg", "hgvsWellDefined": "ENSP00000361176.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "G", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.873C>G" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Ser291Arg", "hgvsWellDefined": "ENSP00000361182.3:p.Ser291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.870C>G" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Ser290Arg", "hgvsWellDefined": "ENSP00000361187.3:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "G", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.444C>G" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Ser148Arg", "hgvsWellDefined": "ENSP00000410263.1:p.Ser148Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.861C>G" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Ser287Arg", "hgvsWellDefined": "ENSP00000403655.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "G", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.861C>G" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Ser287Arg", "hgvsWellDefined": "ENSP00000409718.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "G", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.912C>G" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Ser304Arg", "hgvsWellDefined": "ENSP00000408176.1:p.Ser304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "G", "end": 890, "referenceAllele": "C", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.828C>G" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Ser276Arg", "hgvsWellDefined": "ENSP00000407590.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "G", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*567C>G" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*567C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "G", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.519C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "G", "end": 193, "referenceAllele": "C", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000466231.1:n.193C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309653" }, { "coordinates": [ { "allele": "G", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.222C>G" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Ser74Arg", "hgvsWellDefined": "ENSP00000435889.1:p.Ser74Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "G", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.*157C>G" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:n.*157C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "G", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*641C>G" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*641C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "G", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*641C>G" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*641C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "G", "end": 213, "endIntronDirection": "+", "endIntronOffset": 576, "referenceAllele": "C", "start": 213, "startIntronDirection": "+", "startIntronOffset": 575 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.187+576C>G" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.187+576C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "G", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.870C>G" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Ser290Arg", "hgvsWellDefined": "ENSP00000433130.2:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "C", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.92C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "G", "end": 422, "endIntronDirection": "+", "endIntronOffset": 576, "referenceAllele": "C", "start": 422, "startIntronDirection": "+", "startIntronOffset": 575 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.187+576C>G" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.187+576C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "G", "end": 309, "endIntronDirection": "+", "endIntronOffset": 2204, "referenceAllele": "C", "start": 309, "startIntronDirection": "+", "startIntronOffset": 2203 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+2204C>G" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+2204C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "G", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.457C>G" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.457C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.870C>G" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Ser290Arg", "hgvsWellDefined": "NP_001041636.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428250", "coordinates": [ { "allele": "G", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.831C>G" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Ser277Arg", "hgvsWellDefined": "NP_001041637.1:p.Ser277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429863", "coordinates": [ { "allele": "G", "end": 974, "referenceAllele": "C", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Ser276Arg", "hgvsWellDefined": "NP_001041638.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431473", "coordinates": [ { "allele": "G", "end": 893, "referenceAllele": "C", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Ser276Arg", "hgvsWellDefined": "NP_001041639.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645453174", "coordinates": [ { "allele": "G", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.912C>G", "LRG_220t1:c.912C>G" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Ser304Arg", "hgvsWellDefined": "NP_001121897.1:p.Ser304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823909", "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.873C>G" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Ser291Arg", "hgvsWellDefined": "NP_001280119.1:p.Ser291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825549", "coordinates": [ { "allele": "G", "end": 926, "referenceAllele": "C", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.861C>G" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Ser287Arg", "hgvsWellDefined": "NP_001280120.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826882", "coordinates": [ { "allele": "G", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.552C>G" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Ser184Arg", "hgvsWellDefined": "NP_001280121.1:p.Ser184Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828487", "coordinates": [ { "allele": "G", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Ser276Arg", "hgvsWellDefined": "NP_001280124.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829662", "coordinates": [ { "allele": "G", "end": 911, "referenceAllele": "C", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.552C>G" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Ser184Arg", "hgvsWellDefined": "NP_001280125.1:p.Ser184Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726361", "coordinates": [ { "allele": "G", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.903C>G" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Ser301Arg", "hgvsWellDefined": "NP_036354.1:p.Ser301Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "G", "end": 1191, "referenceAllele": "C", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.888C>G" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Ser296Arg", "hgvsWellDefined": "XP_011539799.1:p.Ser296Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539800.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "G", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539801.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "G", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539802.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "G", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539803.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "G", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539804.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539805.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.861C>G" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Ser287Arg", "hgvsWellDefined": "XP_011539806.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "G", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.450C>G" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Ser150Arg", "hgvsWellDefined": "XP_011539807.1:p.Ser150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "G", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.450C>G" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Ser150Arg", "hgvsWellDefined": "XP_011539808.1:p.Ser150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "G", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.441C>G" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Ser147Arg", "hgvsWellDefined": "XP_011539809.1:p.Ser147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "G", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.456C>G" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Ser152Arg", "hgvsWellDefined": "XP_011539810.1:p.Ser152Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.959C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556834", "coordinates": [ { "allele": "G", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.483C>G" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Ser161Arg", "hgvsWellDefined": "NP_001337579.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558047", "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.483C>G" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Ser161Arg", "hgvsWellDefined": "NP_001337580.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1086C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "G", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.900C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "G", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.888C>G" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Ser296Arg", "hgvsWellDefined": "XP_011539799.1:p.Ser296Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "G", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539802.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "G", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539803.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539804.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.870C>G" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Ser290Arg", "hgvsWellDefined": "XP_011539805.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "G", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.861C>G" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Ser287Arg", "hgvsWellDefined": "XP_011539806.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "G", "end": 632, "referenceAllele": "C", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.450C>G" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Ser150Arg", "hgvsWellDefined": "XP_011539807.1:p.Ser150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "G", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.450C>G" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Ser150Arg", "hgvsWellDefined": "XP_011539808.1:p.Ser150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Ser290Arg", "hgvsWellDefined": "XP_016856820.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "G", "end": 964, "referenceAllele": "C", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Ser290Arg", "hgvsWellDefined": "XP_016856821.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "G", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.870C>G" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Ser290Arg", "hgvsWellDefined": "XP_016856822.1:p.Ser290Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "G", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.831C>G" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Ser277Arg", "hgvsWellDefined": "XP_016856823.1:p.Ser277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "G", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.552C>G" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Ser184Arg", "hgvsWellDefined": "XP_016856824.1:p.Ser184Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "G", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.483C>G" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Ser161Arg", "hgvsWellDefined": "XP_016856825.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "G", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.483C>G" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Ser161Arg", "hgvsWellDefined": "XP_016856826.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.483C>G" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Ser161Arg", "hgvsWellDefined": "XP_024303012.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "G", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.483C>G" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Ser161Arg", "hgvsWellDefined": "XP_024303013.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "G", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.441C>G" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Ser147Arg", "hgvsWellDefined": "XP_024303016.1:p.Ser147Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "G", "end": 1173, "referenceAllele": "C", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.312C>G" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Ser104Arg", "hgvsWellDefined": "XP_024303017.1:p.Ser104Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "G", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.312C>G" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Ser104Arg", "hgvsWellDefined": "XP_024303018.1:p.Ser104Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "G", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.312C>G" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Ser104Arg", "hgvsWellDefined": "XP_024303019.1:p.Ser104Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.873C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "G", "end": 685, "referenceAllele": "C", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.685C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.865C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "G", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1400C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "G", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.973C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426642", "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Ser276Arg", "hgvsWellDefined": "NP_001041636.2:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645453174", "coordinates": [ { "allele": "G", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.912C>G" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Ser304Arg", "hgvsWellDefined": "NP_001121897.1:p.Ser304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.912C>G" }, "RefSeq": { "hgvs": "NM_001128425.2:c.912C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Ser304Arg" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Ser304Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428250", "coordinates": [ { "allele": "G", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.831C>G" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Ser277Arg", "hgvsWellDefined": "NP_001041637.1:p.Ser277Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429863", "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Ser276Arg", "hgvsWellDefined": "NP_001041638.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431473", "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Ser276Arg", "hgvsWellDefined": "NP_001041639.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.828C>G" }, "RefSeq": { "hgvs": "NM_001048174.2:c.828C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Ser276Arg" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Ser276Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823909", "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "C", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.873C>G" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Ser291Arg", "hgvsWellDefined": "NP_001280119.1:p.Ser291Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825549", "coordinates": [ { "allele": "G", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.861C>G" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Ser287Arg", "hgvsWellDefined": "NP_001280120.1:p.Ser287Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826882", "coordinates": [ { "allele": "G", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.552C>G" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Ser184Arg", "hgvsWellDefined": "NP_001280121.1:p.Ser184Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828487", "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.828C>G" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Ser276Arg", "hgvsWellDefined": "NP_001280124.1:p.Ser276Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829662", "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.552C>G" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Ser184Arg", "hgvsWellDefined": "NP_001280125.1:p.Ser184Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556834", "coordinates": [ { "allele": "G", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.483C>G" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Ser161Arg", "hgvsWellDefined": "NP_001337579.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558047", "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.483C>G" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Ser161Arg", "hgvsWellDefined": "NP_001337580.1:p.Ser161Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726361", "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.903C>G" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Ser301Arg", "hgvsWellDefined": "NP_036354.1:p.Ser301Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1056C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.905C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }