{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA013917", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.493-5A>G" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181704[alleleid]", "alleleId": 181704, "preferredName": "NM_001048174.2(MUTYH):c.493-5A>G" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183746", "RCV": [ "RCV000180208", "RCV000162459", "RCV000411665" ], "variationId": 183746 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45798364-T-C", "id": "1-45798364-T-C", "variant": "1:45798364 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798364T>C?assembly=hg19", "id": "chr1:g.45798364T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332692T>C?assembly=hg38", "id": "chr1:g.45332692T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758377868", "rs": 758377868 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45798364-T-C?dataset=gnomad_r2_1", "id": "1-45798364-T-C", "variant": "1:45798364 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332692-T-C?dataset=gnomad_r3", "id": "1-45332692-T-C", "variant": "1:45332692 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332692-T-C?dataset=gnomad_r4", "id": "1-45332692-T-C", "variant": "1:45332692 T / C" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45332692, "referenceAllele": "T", "start": 45332691 } ], "hgvs": [ "NC_000001.11:g.45332692T>C", "CM000663.2:g.45332692T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45798364, "referenceAllele": "T", "start": 45798363 } ], "hgvs": [ "NC_000001.10:g.45798364T>C", "CM000663.1:g.45798364T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45570951, "referenceAllele": "T", "start": 45570950 } ], "hgvs": [ "NC_000001.9:g.45570951T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 12779, "referenceAllele": "A", "start": 12778 } ], "hgvs": [ "NG_008189.1:g.12779A>G", "LRG_220:g.12779A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 235, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 235, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.109-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.109-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "G", "end": 676, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 676, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.526-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "G", "end": 570, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 570, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "G", "end": 1016, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1016, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.511-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:n.511-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "G", "end": 544, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 544, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "G", "end": 695, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 695, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.535-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "G", "end": 121, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 121, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "G", "end": 1622, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1622, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "G", "end": 554, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 554, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*405-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*405-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "G", "end": 762, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 762, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.577-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:n.577-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.577-5A>G" }, "RefSeq": { "hgvs": "NM_001128425.2:c.577-5A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:n.577-5A>G" }, "RefSeq": { "hgvs": "NP_001121897.1:n.577-5A>G" } } } }, { "coordinates": [ { "allele": "G", "end": 753, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 753, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.568-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:n.568-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "G", "end": 647, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 647, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.503-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:n.503-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "G", "end": 570, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 570, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.493-5A>G" }, "RefSeq": { "hgvs": "NM_001048174.2:c.493-5A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:n.493-5A>G" }, "RefSeq": { "hgvs": "NP_001041639.1:n.493-5A>G" } } } }, { "coordinates": [ { "allele": "G", "end": 556, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 556, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*232-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*232-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "G", "end": 438, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 438, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.439-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "G", "end": 1470, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1470, "startIntronDirection": "-", "startIntronOffset": 5 } ], "hgvs": [ "ENST00000671898.1:c.1081-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:n.1081-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "G", "end": 1099, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1099, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.461-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.461-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "G", "end": 1622, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1622, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "A", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*376A>G" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*376A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "G", "end": 566, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 566, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.452-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.452-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "G", "end": 701, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 701, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.568-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:n.568-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "G", "end": 354, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 354, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*190-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*190-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "G", "end": 520, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 520, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.521-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.521-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "G", "end": 606, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 606, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.496-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:n.496-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "G", "end": 638, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 638, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "G", "end": 701, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 701, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.568-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:n.568-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "G", "end": 685, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 685, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "G", "end": 671, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 671, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.538-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:n.538-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "G", "end": 750, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 750, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.535-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "G", "end": 235, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 235, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.109-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:n.109-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "G", "end": 556, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 556, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.526-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "G", "end": 568, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 568, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.526-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "G", "end": 792, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 792, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.577-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:n.577-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "G", "end": 554, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 554, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.493-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "G", "end": 557, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 557, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*232-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*232-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "G", "end": 183, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 183, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.184-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "G", "end": 686, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 686, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.*416-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:n.*416-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "G", "end": 420, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 420, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.380-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:n.380-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "G", "end": 539, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 539, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*306-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*306-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "G", "end": 479, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 479, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000478796.5:n.480-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS319320" }, { "coordinates": [ { "allele": "G", "end": 846, "referenceAllele": "A", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000479746.6:n.846A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS320050" }, { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "A", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481139.5:n.1036A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS321134" }, { "coordinates": [ { "allele": "G", "end": 604, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 604, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*306-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*306-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "G", "end": 1007, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1007, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.1008-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "G", "end": 213, "endIntronDirection": "+", "endIntronOffset": 71, "referenceAllele": "A", "start": 213, "startIntronDirection": "+", "startIntronOffset": 70 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.187+71A>G" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.187+71A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "G", "end": 889, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 889, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.890-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "G", "end": 471, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 471, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*144-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*144-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "G", "end": 588, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 588, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.535-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "G", "end": 422, "endIntronDirection": "+", "endIntronOffset": 71, "referenceAllele": "A", "start": 422, "startIntronDirection": "+", "startIntronOffset": 70 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.187+71A>G" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.187+71A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "G", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1699, "referenceAllele": "A", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1698 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1699A>G" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1699A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "G", "end": 121, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 121, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-5A>G" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "G", "end": 750, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 750, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "NP_001041636.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "coordinates": [ { "allele": "G", "end": 641, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 641, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.496-5A>G" ], "proteinEffect": { "hgvs": "NP_001041637.1:n.496-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "coordinates": [ { "allele": "G", "end": 638, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 638, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001041638.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "coordinates": [ { "allele": "G", "end": 557, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 557, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001041639.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "coordinates": [ { "allele": "G", "end": 792, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 792, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.577-5A>G", "LRG_220t1:c.577-5A>G" ], "proteinEffect": { "hgvs": "NP_001121897.1:n.577-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "coordinates": [ { "allele": "G", "end": 753, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 753, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.538-5A>G" ], "proteinEffect": { "hgvs": "NP_001280119.1:n.538-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "coordinates": [ { "allele": "G", "end": 590, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 590, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.526-5A>G" ], "proteinEffect": { "hgvs": "NP_001280120.1:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "G", "end": 686, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 686, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.217-5A>G" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.217-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "coordinates": [ { "allele": "G", "end": 707, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 707, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001280124.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "G", "end": 575, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 575, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.217-5A>G" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.217-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "coordinates": [ { "allele": "G", "end": 783, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 783, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.568-5A>G" ], "proteinEffect": { "hgvs": "NP_036354.1:n.568-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "G", "end": 855, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 855, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.553-5A>G" ], "proteinEffect": { "hgvs": "XP_011539799.1:n.553-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "G", "end": 627, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 627, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539800.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "G", "end": 613, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 613, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539801.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "G", "end": 790, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 790, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539802.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "G", "end": 738, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 738, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539803.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "G", "end": 771, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 771, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539804.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "G", "end": 581, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 581, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "G", "end": 647, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 647, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.526-5A>G" ], "proteinEffect": { "hgvs": "XP_011539806.1:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "G", "end": 282, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 282, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.115-5A>G" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.115-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "G", "end": 280, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 280, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.115-5A>G" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.115-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "G", "end": 112, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 112, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.106-5A>G" ], "proteinEffect": { "hgvs": "XP_011539809.1:n.106-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "G", "end": 145, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 145, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.121-5A>G" ], "proteinEffect": { "hgvs": "XP_011539810.1:n.121-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "G", "end": 623, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 623, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.624-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "G", "end": 676, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 676, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.148-5A>G" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "G", "end": 612, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 612, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.148-5A>G" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "G", "end": 750, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 750, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.751-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "G", "end": 564, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 564, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.565-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "G", "end": 850, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 850, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.553-5A>G" ], "proteinEffect": { "hgvs": "XP_011539799.1:n.553-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "G", "end": 828, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 828, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539802.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "G", "end": 722, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 722, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539803.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "G", "end": 627, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 627, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539804.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "G", "end": 595, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 595, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_011539805.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "G", "end": 676, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 676, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.526-5A>G" ], "proteinEffect": { "hgvs": "XP_011539806.1:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "G", "end": 296, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 296, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.115-5A>G" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.115-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "G", "end": 338, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 338, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.115-5A>G" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.115-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "G", "end": 626, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 626, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_016856820.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "G", "end": 628, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 628, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_016856821.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "G", "end": 681, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 681, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.535-5A>G" ], "proteinEffect": { "hgvs": "XP_016856822.1:n.535-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "G", "end": 574, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 574, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.496-5A>G" ], "proteinEffect": { "hgvs": "XP_016856823.1:n.496-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "G", "end": 520, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 520, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.217-5A>G" ], "proteinEffect": { "hgvs": "XP_016856824.1:n.217-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "G", "end": 604, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 604, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.148-5A>G" ], "proteinEffect": { "hgvs": "XP_016856825.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "G", "end": 544, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 544, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.148-5A>G" ], "proteinEffect": { "hgvs": "XP_016856826.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "G", "end": 569, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 569, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.148-5A>G" ], "proteinEffect": { "hgvs": "XP_024303012.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "G", "end": 514, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 514, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.148-5A>G" ], "proteinEffect": { "hgvs": "XP_024303013.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "G", "end": 485, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 485, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.106-5A>G" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.106-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "G", "end": 837, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 837, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-24-5A>G" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-24-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "G", "end": 838, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 838, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-24-5A>G" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-24-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "G", "end": 472, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 472, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-24-5A>G" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-24-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "G", "end": 537, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 537, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.538-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "G", "end": 349, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 349, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.350-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "G", "end": 529, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 529, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.530-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "G", "end": 1064, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 1064, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1065-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "G", "end": 637, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 637, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.638-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "coordinates": [ { "allele": "G", "end": 720, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 720, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001041636.2:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "coordinates": [ { "allele": "G", "end": 762, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 762, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.577-5A>G" ], "proteinEffect": { "hgvs": "NP_001121897.1:n.577-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.577-5A>G" }, "RefSeq": { "hgvs": "NM_001128425.2:c.577-5A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:n.577-5A>G" }, "RefSeq": { "hgvs": "NP_001121897.1:n.577-5A>G" } } } }, { "coordinates": [ { "allele": "G", "end": 646, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 646, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.496-5A>G" ], "proteinEffect": { "hgvs": "NP_001041637.1:n.496-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "coordinates": [ { "allele": "G", "end": 643, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 643, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001041638.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "coordinates": [ { "allele": "G", "end": 570, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 570, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001041639.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.493-5A>G" }, "RefSeq": { "hgvs": "NM_001048174.2:c.493-5A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:n.493-5A>G" }, "RefSeq": { "hgvs": "NP_001041639.1:n.493-5A>G" } } } }, { "coordinates": [ { "allele": "G", "end": 723, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 723, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.538-5A>G" ], "proteinEffect": { "hgvs": "NP_001280119.1:n.538-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "coordinates": [ { "allele": "G", "end": 603, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 603, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.526-5A>G" ], "proteinEffect": { "hgvs": "NP_001280120.1:n.526-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "G", "end": 656, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 656, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.217-5A>G" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.217-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "coordinates": [ { "allele": "G", "end": 720, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 720, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.493-5A>G" ], "proteinEffect": { "hgvs": "NP_001280124.1:n.493-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "G", "end": 579, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 579, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.217-5A>G" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.217-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "G", "end": 646, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 646, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.148-5A>G" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "G", "end": 582, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 582, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.148-5A>G" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.148-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "coordinates": [ { "allele": "G", "end": 753, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 753, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.568-5A>G" ], "proteinEffect": { "hgvs": "NP_036354.1:n.568-5A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "G", "end": 720, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 720, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.721-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "G", "end": 569, "endIntronDirection": "-", "endIntronOffset": 4, "referenceAllele": "A", "start": 569, "startIntronDirection": "-", "startIntronOffset": 5 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.570-5A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }