{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352048333", "communityStandardTitle": [ "NM_000249.4(MLH1):c.885T>A (p.Ser295Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37061801T>A?assembly=hg19", "id": "chr3:g.37061801T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37020310T>A?assembly=hg38", "id": "chr3:g.37020310T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1204426298", "rs": 1204426298 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37020310, "referenceAllele": "T", "start": 37020309 } ], "hgvs": [ "NC_000003.12:g.37020310T>A", "CM000665.2:g.37020310T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37061801, "referenceAllele": "T", "start": 37061800 } ], "hgvs": [ "NC_000003.11:g.37061801T>A", "CM000665.1:g.37061801T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 37036805, "referenceAllele": "T", "start": 37036804 } ], "hgvs": [ "NC_000003.10:g.37036805T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 31961, "referenceAllele": "T", "start": 31960 } ], "hgvs": [ "NG_007109.2:g.31961T>A", "LRG_216:g.31961T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1076, "referenceAllele": "T", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Ser295Arg", "hgvsWellDefined": "ENSP00000416476.2:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "T", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.591T>A" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Ser197Arg", "hgvsWellDefined": "ENSP00000407019.2:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914050" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Ser295Arg", "hgvsWellDefined": "ENSP00000393006.2:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Ser295Arg", "hgvsWellDefined": "ENSP00000416687.3:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "A", "end": 914, "endIntronDirection": "+", "endIntronOffset": 2711, "referenceAllele": "T", "start": 914, "startIntronDirection": "+", "startIntronOffset": 2710 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.884+2711T>A" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:n.884+2711T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "T", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000492474.6:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000518393.1:p.Ser54Arg", "hgvsWellDefined": "ENSP00000518393.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914167" }, { "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "T", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Ser295Arg", "hgvsWellDefined": "ENSP00000480669.3:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "A", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Ser295Arg", "hgvsWellDefined": "ENSP00000500979.2:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Ser295Arg", "hgvsWellDefined": "ENSP00000231790.3:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.885T>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.885T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser295Arg" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser295Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 780, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 780, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.2:c.68-5327T>A" ], "proteinEffect": { "hgvs": "ENSP00000400844.2:n.68-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754523" }, { "coordinates": [ { "allele": "A", "end": 1041, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 1041, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.*871-5327T>A" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*871-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "T", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.6:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000398392.2:p.Ser54Arg", "hgvsWellDefined": "ENSP00000398392.2:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS755839" }, { "coordinates": [ { "allele": "A", "end": 693, "referenceAllele": "T", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.6:n.693T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS755895" }, { "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "T", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.6:c.428T>A" ], "proteinEffect": { "hgvs": "ENSP00000399329.2:p.Leu143His", "hgvsWellDefined": "ENSP00000399329.2:p.Leu143His" }, "referenceSequence": "http://reg.genome.network/refseq/RS756143" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "T", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.6:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Ser54Arg", "hgvsWellDefined": "ENSP00000443665.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS759598" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.1:c.838T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773774" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "T", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.916T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "T", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Ser295Arg", "hgvsWellDefined": "ENSP00000501301.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "A", "end": 267, "referenceAllele": "T", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673889.1:n.267T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773946" }, { "coordinates": [ { "allele": "A", "end": 811, "referenceAllele": "T", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.*677T>A" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:n.*677T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "A", "end": 736, "endIntronDirection": "+", "endIntronOffset": 8211, "referenceAllele": "T", "start": 736, "startIntronDirection": "+", "startIntronOffset": 8210 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.677+8211T>A" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:n.677+8211T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "T", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.*1025T>A" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:n.*1025T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.*763T>A" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:n.*763T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "T", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673990.1:n.776T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774028" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674019.1:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000501081.1:p.Ser54Arg", "hgvsWellDefined": "ENSP00000501081.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774050" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "T", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674107.1:n.733T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774126" }, { "coordinates": [ { "allele": "A", "end": 938, "referenceAllele": "T", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:p.Ser295Arg", "hgvsWellDefined": "ENSP00000501162.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "A", "end": 1101, "referenceAllele": "T", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.885T>A" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Ser295Arg", "hgvsWellDefined": "ENSP00000231790.2:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "A", "end": 113, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 113, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.1:c.114-5327T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS282960" }, { "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "T", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000435176.5:c.591T>A" ], "proteinEffect": { "hgvs": "ENSP00000402564.1:p.Ser197Arg", "hgvsWellDefined": "ENSP00000402564.1:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247390" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "T", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.5:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000398392.1:p.Ser54Arg", "hgvsWellDefined": "ENSP00000398392.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247125" }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "T", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.5:c.172T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS299445" }, { "coordinates": [ { "allele": "A", "end": 857, "referenceAllele": "T", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000455445.6:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000398272.2:p.Ser54Arg", "hgvsWellDefined": "ENSP00000398272.2:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247178" }, { "coordinates": [ { "allele": "A", "end": 860, "referenceAllele": "T", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.6:c.860T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247416" }, { "coordinates": [ { "allele": "A", "end": 225, "endIntronDirection": "+", "endIntronOffset": 2711, "referenceAllele": "T", "start": 225, "startIntronDirection": "+", "startIntronOffset": 2710 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.5:c.225+2711T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304207" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "T", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458205.6:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000402667.2:p.Ser54Arg", "hgvsWellDefined": "ENSP00000402667.2:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247365" }, { "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "T", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:p.Ser54Arg", "hgvsWellDefined": "ENSP00000444286.2:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "T", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.5:c.162T>A" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Ser54Arg", "hgvsWellDefined": "ENSP00000443665.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247348" }, { "@id": "http://reg.genome.network/allele/PA331152", "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "T", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.885T>A", "LRG_216t1:c.885T>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser295Arg", "hgvsWellDefined": "NP_000240.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826038062", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "T", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.1:c.591T>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser197Arg", "hgvsWellDefined": "NP_001161089.1:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014972" }, { "@id": "http://reg.genome.network/allele/PA2826039905", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "T", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser54Arg", "hgvsWellDefined": "NP_001161090.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014973" }, { "@id": "http://reg.genome.network/allele/PA2826041746", "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "T", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser54Arg", "hgvsWellDefined": "NP_001161091.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014974" }, { "@id": "http://reg.genome.network/allele/PA2826457532", "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "T", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.885T>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser295Arg", "hgvsWellDefined": "NP_001245200.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "@id": "http://reg.genome.network/allele/PA2826459121", "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "T", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Ser54Arg", "hgvsWellDefined": "NP_001245202.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "@id": "http://reg.genome.network/allele/PA2826460965", "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "T", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser54Arg", "hgvsWellDefined": "NP_001245203.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019760" }, { "coordinates": [ { "allele": "A", "end": 766, "referenceAllele": "T", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.678T>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Arg226=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265163.1:c.162T>A" ], "proteinEffect": { "hgvs": "XP_005265220.1:p.Ser54Arg", "hgvsWellDefined": "XP_005265220.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064528" }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "T", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.162T>A" ], "proteinEffect": { "hgvs": "XP_005265221.1:p.Ser54Arg", "hgvsWellDefined": "XP_005265221.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "T", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265166.1:c.-139T>A" ], "proteinEffect": { "hgvs": "XP_005265223.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS064530" }, { "coordinates": [ { "allele": "A", "end": 796, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 796, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_011533727.1:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "XP_011532029.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS100748" }, { "@id": "http://reg.genome.network/allele/PA2826038062", "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "T", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.591T>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser197Arg", "hgvsWellDefined": "NP_001161089.1:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "@id": "http://reg.genome.network/allele/PA2826039905", "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "T", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser54Arg", "hgvsWellDefined": "NP_001161090.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "@id": "http://reg.genome.network/allele/PA2826041746", "coordinates": [ { "allele": "A", "end": 1218, "referenceAllele": "T", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser54Arg", "hgvsWellDefined": "NP_001161091.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "@id": "http://reg.genome.network/allele/PA2826460965", "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "T", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser54Arg", "hgvsWellDefined": "NP_001245203.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "@id": "http://reg.genome.network/allele/PA2827885125", "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "T", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341544.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "@id": "http://reg.genome.network/allele/PA2827886969", "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "T", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341545.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "@id": "http://reg.genome.network/allele/PA2827888814", "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "T", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341546.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "@id": "http://reg.genome.network/allele/PA2827890655", "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "T", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341547.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "@id": "http://reg.genome.network/allele/PA916038115", "coordinates": [ { "allele": "A", "end": 1434, "referenceAllele": "T", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341548.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827894430", "coordinates": [ { "allele": "A", "end": 1073, "referenceAllele": "T", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.591T>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Ser197Arg", "hgvsWellDefined": "NP_001341549.1:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "A", "end": 1103, "referenceAllele": "T", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-139T>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-139T>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-139T>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "A", "end": 988, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 988, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "A", "end": 886, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 886, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "A", "end": 983, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 983, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "A", "end": 1215, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 1215, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827907046", "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "T", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.885T>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser295Arg", "hgvsWellDefined": "NP_001341557.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827909356", "coordinates": [ { "allele": "A", "end": 984, "referenceAllele": "T", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.786T>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser262Arg", "hgvsWellDefined": "NP_001341558.1:p.Ser262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827911631", "coordinates": [ { "allele": "A", "end": 1083, "referenceAllele": "T", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.885T>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser295Arg", "hgvsWellDefined": "NP_001341559.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "T", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.678T>A" ], "proteinEffect": { "hgvs": "XP_005265218.1:p.Arg226=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "T", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-139T>A" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA331152", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.885T>A" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser295Arg", "hgvsWellDefined": "NP_000240.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.885T>A" }, "RefSeq": { "hgvs": "NM_000249.4:c.885T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser295Arg" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser295Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826038062", "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "T", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.591T>A" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser197Arg", "hgvsWellDefined": "NP_001161089.1:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "@id": "http://reg.genome.network/allele/PA2826039905", "coordinates": [ { "allele": "A", "end": 1137, "referenceAllele": "T", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser54Arg", "hgvsWellDefined": "NP_001161090.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "@id": "http://reg.genome.network/allele/PA2826041746", "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser54Arg", "hgvsWellDefined": "NP_001161091.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826457532", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.885T>A" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser295Arg", "hgvsWellDefined": "NP_001245200.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "@id": "http://reg.genome.network/allele/PA2826459121", "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "T", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Ser54Arg", "hgvsWellDefined": "NP_001245202.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "@id": "http://reg.genome.network/allele/PA2826460965", "coordinates": [ { "allele": "A", "end": 1287, "referenceAllele": "T", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser54Arg", "hgvsWellDefined": "NP_001245203.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "@id": "http://reg.genome.network/allele/PA2827885125", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341544.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "@id": "http://reg.genome.network/allele/PA2827886969", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341545.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "@id": "http://reg.genome.network/allele/PA2827888814", "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "T", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341546.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "@id": "http://reg.genome.network/allele/PA2827890655", "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "T", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341547.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "@id": "http://reg.genome.network/allele/PA916038115", "coordinates": [ { "allele": "A", "end": 1266, "referenceAllele": "T", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.162T>A" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Ser54Arg", "hgvsWellDefined": "NP_001341548.1:p.Ser54Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894430", "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "T", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.591T>A" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Ser197Arg", "hgvsWellDefined": "NP_001341549.1:p.Ser197Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "T", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-139T>A" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "T", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-139T>A" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "T", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-139T>A" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-139T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "A", "end": 820, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 820, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "A", "end": 718, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 718, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "A", "end": 815, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 815, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "A", "end": 1047, "endIntronDirection": "-", "endIntronOffset": 5326, "referenceAllele": "T", "start": 1047, "startIntronDirection": "-", "startIntronOffset": 5327 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-36-5327T>A" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-36-5327T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827907046", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.885T>A" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser295Arg", "hgvsWellDefined": "NP_001341557.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827909356", "coordinates": [ { "allele": "A", "end": 816, "referenceAllele": "T", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.786T>A" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser262Arg", "hgvsWellDefined": "NP_001341558.1:p.Ser262Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827911631", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "T", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.885T>A" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser295Arg", "hgvsWellDefined": "NP_001341559.1:p.Ser295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }