{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA013611", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.378+3G>A" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181718[alleleid]", "alleleId": 181718, "preferredName": "NM_001048174.2(MUTYH):c.378+3G>A" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185648", "RCV": [ "RCV000165102", "RCV000235270", "RCV001850310" ], "variationId": 185648 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45798766-C-T", "id": "1-45798766-C-T", "variant": "1:45798766 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798766C>T?assembly=hg19", "id": "chr1:g.45798766C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45333094C>T?assembly=hg38", "id": "chr1:g.45333094C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373939052", "rs": 373939052 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45798766-C-T?dataset=gnomad_r2_1", "id": "1-45798766-C-T", "variant": "1:45798766 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45333094-C-T?dataset=gnomad_r3", "id": "1-45333094-C-T", "variant": "1:45333094 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45333094-C-T?dataset=gnomad_r4", "id": "1-45333094-C-T", "variant": "1:45333094 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45333094, "referenceAllele": "C", "start": 45333093 } ], "hgvs": [ "NC_000001.11:g.45333094C>T", "CM000663.2:g.45333094C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45798766, "referenceAllele": "C", "start": 45798765 } ], "hgvs": [ "NC_000001.10:g.45798766C>T", "CM000663.1:g.45798766C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45571353, "referenceAllele": "C", "start": 45571352 } ], "hgvs": [ "NC_000001.9:g.45571353C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12377, "referenceAllele": "G", "start": 12376 } ], "hgvs": [ "NG_008189.1:g.12377G>A", "LRG_220:g.12377G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-260G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 562, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 562, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.411+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 456, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 456, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 902, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 902, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.396+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:n.396+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 430, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 430, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 581, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 581, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.420+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 406, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 407 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-407G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-407G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1508, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 1508, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 440, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 440, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*290+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*290+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 648, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 648, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.462+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:n.462+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.462+3G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.462+3G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:n.462+3G>A" }, "RefSeq": { "hgvs": "NP_001121897.1:n.462+3G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 639, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 639, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.453+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:n.453+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 533, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 533, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.389-135G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:n.389-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 456, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 456, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.378+3G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.378+3G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:n.378+3G>A" }, "RefSeq": { "hgvs": "NP_001041639.1:n.378+3G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 442, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 442, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*118-135G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*118-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 324, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 324, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.325-135G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 1356, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 1356, "startIntronDirection": "+", "startIntronOffset": 2 } ], "hgvs": [ "ENST00000671898.1:c.966+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:n.966+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 985, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 985, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.347-135G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.347-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1508, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 1508, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 775, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 775, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*191+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*191+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 452, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 452, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.338-135G>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.338-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 587, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 587, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.453+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:n.453+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 282, "endIntronDirection": "+", "endIntronOffset": 191, "referenceAllele": "G", "start": 282, "startIntronDirection": "+", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*117+191G>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*117+191G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 406, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 406, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.406+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.406+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 492, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 492, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.381+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:n.381+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 524, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 524, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 587, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 587, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.453+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:n.453+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 571, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 571, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 557, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 557, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.423+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:n.423+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 636, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 636, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.420+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.37-260G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:n.37-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 442, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 442, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.411+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "A", "end": 454, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 454, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.411+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 678, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 678, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.462+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:n.462+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 440, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 440, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.378+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "A", "end": 443, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 443, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*118-135G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*118-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462387.5:n.566G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306656" }, { "coordinates": [ { "allele": "A", "end": 572, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 572, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.*301+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:n.*301+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "A", "end": 348, "endIntronDirection": "+", "endIntronOffset": 191, "referenceAllele": "G", "start": 348, "startIntronDirection": "+", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.307+191G>A" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:n.307+191G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000474703.1:n.536G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316152" }, { "coordinates": [ { "allele": "A", "end": 425, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 425, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*191+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*191+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "A", "end": 601, "referenceAllele": "G", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000476789.5:n.601G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317757" }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "G", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000478796.5:n.231G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319320" }, { "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000479746.6:n.444G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320050" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481139.5:n.634G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321134" }, { "coordinates": [ { "allele": "A", "end": 490, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 490, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*191+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*191+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "G", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.676G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "G", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485484.5:n.545G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324499" }, { "coordinates": [ { "allele": "A", "end": 141, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 141, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.116-260G>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.116-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.558G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "A", "end": 357, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 357, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*30-135G>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*30-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 474, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 474, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.420+3G>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 350, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 350, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.116-260G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.116-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1297, "referenceAllele": "G", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1296 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1297G>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1297G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 406, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 407 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-407G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-407G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "A", "end": 636, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 636, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "coordinates": [ { "allele": "A", "end": 527, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 527, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.381+3G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:n.381+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "coordinates": [ { "allele": "A", "end": 524, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 524, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "coordinates": [ { "allele": "A", "end": 443, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 443, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "coordinates": [ { "allele": "A", "end": 678, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 678, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.462+3G>A", "LRG_220t1:c.462+3G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:n.462+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "coordinates": [ { "allele": "A", "end": 639, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 639, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.423+3G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:n.423+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "coordinates": [ { "allele": "A", "end": 476, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 476, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.411+3G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "A", "end": 572, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 572, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.102+3G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.102+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "coordinates": [ { "allele": "A", "end": 593, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 593, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "A", "end": 461, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 461, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.102+3G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.102+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "coordinates": [ { "allele": "A", "end": 669, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 669, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.453+3G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:n.453+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 741, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 741, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.438+3G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:n.438+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 513, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 513, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 499, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 499, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 676, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 676, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 624, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 624, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 657, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 657, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 509, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 509, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.462+3G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.462+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 533, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 533, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.411+3G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 210, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 210, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.43-260G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 208, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 208, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.43-260G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 40, "endIntronDirection": "+", "endIntronOffset": 191, "referenceAllele": "G", "start": 40, "startIntronDirection": "+", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.33+191G>A" ], "proteinEffect": { "hgvs": "XP_011539809.1:n.33+191G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "A", "end": 31, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 31, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.7-135G>A" ], "proteinEffect": { "hgvs": "XP_011539810.1:n.7-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "A", "end": 509, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 509, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.509+3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "A", "end": 562, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 562, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.34-135G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "A", "end": 498, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 498, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.34-135G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 636, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 636, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.636+3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 450, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 450, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.451-135G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 736, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 736, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.438+3G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:n.438+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 714, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 714, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 608, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 608, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 513, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 513, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 523, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 523, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.462+3G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.462+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 562, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 562, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.411+3G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 224, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 224, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.43-260G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 266, "endIntronDirection": "-", "endIntronOffset": 259, "referenceAllele": "G", "start": 266, "startIntronDirection": "-", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.43-260G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-260G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 512, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 512, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 514, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 514, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 567, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 567, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.420+3G>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:n.420+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 460, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 460, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.381+3G>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:n.381+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 406, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 406, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.102+3G>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:n.102+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 490, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 490, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.34-135G>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 430, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 430, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.34-135G>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 455, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 455, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.34-135G>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 400, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 400, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.34-135G>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 413, "endIntronDirection": "+", "endIntronOffset": 191, "referenceAllele": "G", "start": 413, "startIntronDirection": "+", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.33+191G>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.33+191G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-273G>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-273G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "G", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-273G>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-273G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 275, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 275, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-221-135G>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-221-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 423, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 423, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.423+3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "+", "endIntronOffset": 191, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.277+191G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 457, "endIntronDirection": "+", "endIntronOffset": 191, "referenceAllele": "G", "start": 457, "startIntronDirection": "+", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.457+191G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 523, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 523, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.523+3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "coordinates": [ { "allele": "A", "end": 606, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 606, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "coordinates": [ { "allele": "A", "end": 648, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 648, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.462+3G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:n.462+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.462+3G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.462+3G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:n.462+3G>A" }, "RefSeq": { "hgvs": "NP_001121897.1:n.462+3G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 532, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 532, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.381+3G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:n.381+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "coordinates": [ { "allele": "A", "end": 529, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 529, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "coordinates": [ { "allele": "A", "end": 456, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 456, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.378+3G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.378+3G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:n.378+3G>A" }, "RefSeq": { "hgvs": "NP_001041639.1:n.378+3G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 609, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 609, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.423+3G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:n.423+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "coordinates": [ { "allele": "A", "end": 489, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 489, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.411+3G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:n.411+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "A", "end": 542, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 542, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.102+3G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.102+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "coordinates": [ { "allele": "A", "end": 606, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 606, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.378+3G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:n.378+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "A", "end": 465, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 465, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.102+3G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.102+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "A", "end": 532, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 532, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.34-135G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "A", "end": 468, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 468, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.34-135G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.34-135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "coordinates": [ { "allele": "A", "end": 639, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 639, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.453+3G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:n.453+3G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 606, "endIntronDirection": "+", "endIntronOffset": 3, "referenceAllele": "G", "start": 606, "startIntronDirection": "+", "startIntronOffset": 2 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.606+3G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 455, "endIntronDirection": "-", "endIntronOffset": 134, "referenceAllele": "G", "start": 455, "startIntronDirection": "-", "startIntronOffset": 135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.456-135G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }