{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA011855", "communityStandardTitle": [ "NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95816[alleleid]", "alleleId": 95816, "preferredName": "NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90342", "RCV": [ "RCV000075833", "RCV000629770", "RCV001183309" ], "variationId": 90342 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37055984T>C?assembly=hg19", "id": "chr3:g.37055984T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.37014493T>C?assembly=hg38", "id": "chr3:g.37014493T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750948", "rs": 63750948 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-37014493-T-C?dataset=gnomad_r4", "id": "3-37014493-T-C", "variant": "3:37014493 T / C" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 37014493, "referenceAllele": "T", "start": 37014492 } ], "hgvs": [ "NC_000003.12:g.37014493T>C", "CM000665.2:g.37014493T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 37055984, "referenceAllele": "T", "start": 37055983 } ], "hgvs": [ "NC_000003.11:g.37055984T>C", "CM000665.1:g.37055984T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 37030988, "referenceAllele": "T", "start": 37030987 } ], "hgvs": [ "NC_000003.10:g.37030988T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "C", "end": 26144, "referenceAllele": "T", "start": 26143 } ], "hgvs": [ "NG_007109.2:g.26144T>C", "LRG_216:g.26144T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000485" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 930, "referenceAllele": "T", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413740.2:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000416476.2:p.Ser247Pro", "hgvsWellDefined": "ENSP00000416476.2:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914028" }, { "coordinates": [ { "allele": "C", "end": 757, "referenceAllele": "T", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000429117.6:c.445T>C" ], "proteinEffect": { "hgvs": "ENSP00000407019.2:p.Ser149Pro", "hgvsWellDefined": "ENSP00000407019.2:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914050" }, { "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000450420.6:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000393006.2:p.Ser247Pro", "hgvsWellDefined": "ENSP00000393006.2:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914085" }, { "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.7:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000416687.3:p.Ser247Pro", "hgvsWellDefined": "ENSP00000416687.3:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914097" }, { "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.6:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000411066.2:p.Ser247Pro", "hgvsWellDefined": "ENSP00000411066.2:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914099" }, { "coordinates": [ { "allele": "C", "end": 797, "referenceAllele": "T", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000492474.6:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000518393.1:p.Ser6Pro", "hgvsWellDefined": "ENSP00000518393.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914167" }, { "coordinates": [ { "allele": "C", "end": 815, "referenceAllele": "T", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000616768.6:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000480669.3:p.Ser247Pro", "hgvsWellDefined": "ENSP00000480669.3:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914365" }, { "coordinates": [ { "allele": "C", "end": 1061, "referenceAllele": "T", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.2:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000500979.2:p.Ser247Pro", "hgvsWellDefined": "ENSP00000500979.2:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914447" }, { "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.8:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000231790.3:p.Ser247Pro", "hgvsWellDefined": "ENSP00000231790.3:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS740875", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.739T>C" }, "RefSeq": { "hgvs": "NM_000249.4:c.739T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser247Pro" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser247Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 729, "referenceAllele": "T", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.2:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000400844.2:p.Ser6Pro", "hgvsWellDefined": "ENSP00000400844.2:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS754523" }, { "coordinates": [ { "allele": "C", "end": 990, "referenceAllele": "T", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000432299.6:c.*819T>C" ], "proteinEffect": { "hgvs": "ENSP00000416783.1:n.*819T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS755407" }, { "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.6:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000398392.2:p.Ser6Pro", "hgvsWellDefined": "ENSP00000398392.2:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS755839" }, { "coordinates": [ { "allele": "C", "end": 692, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 692, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000442249.6:n.692+2394T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS755895" }, { "coordinates": [ { "allele": "C", "end": 655, "referenceAllele": "T", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.6:c.376T>C" ], "proteinEffect": { "hgvs": "ENSP00000399329.2:p.Ser126Pro", "hgvsWellDefined": "ENSP00000399329.2:p.Ser126Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS756143" }, { "coordinates": [ { "allele": "C", "end": 618, "referenceAllele": "T", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.6:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Ser6Pro", "hgvsWellDefined": "ENSP00000443665.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS759598" }, { "coordinates": [ { "allele": "C", "end": 692, "referenceAllele": "T", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673673.1:c.692T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773774" }, { "coordinates": [ { "allele": "C", "end": 770, "referenceAllele": "T", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673713.1:n.770T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773810" }, { "coordinates": [ { "allele": "C", "end": 764, "referenceAllele": "T", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673715.1:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000501301.1:p.Ser247Pro", "hgvsWellDefined": "ENSP00000501301.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS773811" }, { "coordinates": [ { "allele": "C", "end": 665, "referenceAllele": "T", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673897.1:c.*531T>C" ], "proteinEffect": { "hgvs": "ENSP00000501109.1:n.*531T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS773953" }, { "coordinates": [ { "allele": "C", "end": 736, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 736, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673899.1:c.677+2394T>C" ], "proteinEffect": { "hgvs": "ENSP00000501030.1:n.677+2394T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS773955" }, { "coordinates": [ { "allele": "C", "end": 1005, "referenceAllele": "T", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673947.1:c.*879T>C" ], "proteinEffect": { "hgvs": "ENSP00000501304.1:n.*879T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS773999" }, { "coordinates": [ { "allele": "C", "end": 767, "referenceAllele": "T", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673972.1:c.*617T>C" ], "proteinEffect": { "hgvs": "ENSP00000501281.1:n.*617T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774014" }, { "coordinates": [ { "allele": "C", "end": 724, "referenceAllele": "T", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000673990.1:n.724T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS774028" }, { "coordinates": [ { "allele": "C", "end": 874, "referenceAllele": "T", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674019.1:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000501081.1:p.Ser6Pro", "hgvsWellDefined": "ENSP00000501081.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS774050" }, { "coordinates": [ { "allele": "C", "end": 681, "referenceAllele": "T", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674107.1:n.681T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS774126" }, { "coordinates": [ { "allele": "C", "end": 792, "referenceAllele": "T", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000674111.1:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000501162.1:p.Ser247Pro", "hgvsWellDefined": "ENSP00000501162.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS774130" }, { "coordinates": [ { "allele": "C", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000231790.6:c.739T>C" ], "proteinEffect": { "hgvs": "ENSP00000231790.2:p.Ser247Pro", "hgvsWellDefined": "ENSP00000231790.2:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS246728" }, { "coordinates": [ { "allele": "C", "end": 62, "referenceAllele": "T", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000413212.1:c.62T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS282960" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000435176.5:c.445T>C" ], "proteinEffect": { "hgvs": "ENSP00000402564.1:p.Ser149Pro", "hgvsWellDefined": "ENSP00000402564.1:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247390" }, { "coordinates": [ { "allele": "C", "end": 618, "referenceAllele": "T", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000441265.5:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000398392.1:p.Ser6Pro", "hgvsWellDefined": "ENSP00000398392.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247125" }, { "coordinates": [ { "allele": "C", "end": 120, "referenceAllele": "T", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000447829.5:c.120T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS299445" }, { "coordinates": [ { "allele": "C", "end": 711, "referenceAllele": "T", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000455445.6:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000398272.2:p.Ser6Pro", "hgvsWellDefined": "ENSP00000398272.2:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247178" }, { "coordinates": [ { "allele": "C", "end": 714, "referenceAllele": "T", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000456676.6:c.714T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS247416" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000457004.5:c.*518T>C" ], "proteinEffect": { "hgvs": "ENSP00000407773.1:n.*518T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS303743" }, { "coordinates": [ { "allele": "C", "end": 80, "referenceAllele": "T", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458009.5:c.80T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS304207" }, { "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000458205.6:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000402667.2:p.Ser6Pro", "hgvsWellDefined": "ENSP00000402667.2:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247365" }, { "coordinates": [ { "allele": "C", "end": 846, "referenceAllele": "T", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000536378.5:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000444286.2:p.Ser6Pro", "hgvsWellDefined": "ENSP00000444286.2:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247118" }, { "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "T", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "ENST00000539477.5:c.16T>C" ], "proteinEffect": { "hgvs": "ENSP00000443665.1:p.Ser6Pro", "hgvsWellDefined": "ENSP00000443665.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247348" }, { "@id": "http://reg.genome.network/allele/PA094470", "coordinates": [ { "allele": "C", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.3:c.739T>C", "LRG_216t1:c.739T>C" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser247Pro", "hgvsWellDefined": "NP_000240.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006311" }, { "@id": "http://reg.genome.network/allele/PA2826037884", "coordinates": [ { "allele": "C", "end": 732, "referenceAllele": "T", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.1:c.445T>C" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser149Pro", "hgvsWellDefined": "NP_001161089.1:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014972" }, { "@id": "http://reg.genome.network/allele/PA2826039725", "coordinates": [ { "allele": "C", "end": 732, "referenceAllele": "T", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser6Pro", "hgvsWellDefined": "NP_001161090.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014973" }, { "@id": "http://reg.genome.network/allele/PA2826041568", "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "T", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser6Pro", "hgvsWellDefined": "NP_001161091.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS014974" }, { "@id": "http://reg.genome.network/allele/PA2826457351", "coordinates": [ { "allele": "C", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.1:c.739T>C" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser247Pro", "hgvsWellDefined": "NP_001245200.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS019757" }, { "@id": "http://reg.genome.network/allele/PA2826458941", "coordinates": [ { "allele": "C", "end": 846, "referenceAllele": "T", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Ser6Pro", "hgvsWellDefined": "NP_001245202.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS019759" }, { "@id": "http://reg.genome.network/allele/PA2826460783", "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "T", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser6Pro", "hgvsWellDefined": "NP_001245203.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS019760" }, { "coordinates": [ { "allele": "C", "end": 765, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 765, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.1:c.677+2394T>C" ], "proteinEffect": { "hgvs": "XP_005265218.1:n.677+2394T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS064527" }, { "coordinates": [ { "allele": "C", "end": 737, "referenceAllele": "T", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265163.1:c.16T>C" ], "proteinEffect": { "hgvs": "XP_005265220.1:p.Ser6Pro", "hgvsWellDefined": "XP_005265220.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS064528" }, { "coordinates": [ { "allele": "C", "end": 790, "referenceAllele": "T", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265164.1:c.16T>C" ], "proteinEffect": { "hgvs": "XP_005265221.1:p.Ser6Pro", "hgvsWellDefined": "XP_005265221.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS064529" }, { "coordinates": [ { "allele": "C", "end": 745, "referenceAllele": "T", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265166.1:c.-191T>C" ], "proteinEffect": { "hgvs": "XP_005265223.1:n.-191T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS064530" }, { "coordinates": [ { "allele": "C", "end": 745, "referenceAllele": "T", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_011533727.1:c.-88T>C" ], "proteinEffect": { "hgvs": "XP_011532029.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS100748" }, { "@id": "http://reg.genome.network/allele/PA2826037884", "coordinates": [ { "allele": "C", "end": 1159, "referenceAllele": "T", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.2:c.445T>C" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser149Pro", "hgvsWellDefined": "NP_001161089.1:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511683" }, { "@id": "http://reg.genome.network/allele/PA2826039725", "coordinates": [ { "allele": "C", "end": 1159, "referenceAllele": "T", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser6Pro", "hgvsWellDefined": "NP_001161090.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511684" }, { "@id": "http://reg.genome.network/allele/PA2826041568", "coordinates": [ { "allele": "C", "end": 1072, "referenceAllele": "T", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser6Pro", "hgvsWellDefined": "NP_001161091.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511685" }, { "@id": "http://reg.genome.network/allele/PA2826460783", "coordinates": [ { "allele": "C", "end": 1309, "referenceAllele": "T", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser6Pro", "hgvsWellDefined": "NP_001245203.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511992" }, { "@id": "http://reg.genome.network/allele/PA2827884944", "coordinates": [ { "allele": "C", "end": 840, "referenceAllele": "T", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341544.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522556" }, { "@id": "http://reg.genome.network/allele/PA2827886789", "coordinates": [ { "allele": "C", "end": 840, "referenceAllele": "T", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341545.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522557" }, { "@id": "http://reg.genome.network/allele/PA2827888632", "coordinates": [ { "allele": "C", "end": 932, "referenceAllele": "T", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341546.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522558" }, { "@id": "http://reg.genome.network/allele/PA2827890475", "coordinates": [ { "allele": "C", "end": 1164, "referenceAllele": "T", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341547.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522559" }, { "@id": "http://reg.genome.network/allele/PA916038072", "coordinates": [ { "allele": "C", "end": 1288, "referenceAllele": "T", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.1:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341548.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522560" }, { "@id": "http://reg.genome.network/allele/PA2827894246", "coordinates": [ { "allele": "C", "end": 927, "referenceAllele": "T", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.1:c.445T>C" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Ser149Pro", "hgvsWellDefined": "NP_001341549.1:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522561" }, { "coordinates": [ { "allele": "C", "end": 1102, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 1102, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.1:c.-140+2394T>C" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-140+2394T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522562" }, { "coordinates": [ { "allele": "C", "end": 1164, "referenceAllele": "T", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.1:c.-191T>C" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-191T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522563" }, { "coordinates": [ { "allele": "C", "end": 1073, "referenceAllele": "T", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.1:c.-191T>C" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-191T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522564" }, { "coordinates": [ { "allele": "C", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.1:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522565" }, { "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.1:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522566" }, { "coordinates": [ { "allele": "C", "end": 932, "referenceAllele": "T", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.1:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522567" }, { "coordinates": [ { "allele": "C", "end": 1164, "referenceAllele": "T", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.1:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522568" }, { "@id": "http://reg.genome.network/allele/PA2827906865", "coordinates": [ { "allele": "C", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.1:c.739T>C" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser247Pro", "hgvsWellDefined": "NP_001341557.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522569" }, { "@id": "http://reg.genome.network/allele/PA2827909173", "coordinates": [ { "allele": "C", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.1:c.640T>C" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser214Pro", "hgvsWellDefined": "NP_001341558.1:p.Ser214Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522570" }, { "@id": "http://reg.genome.network/allele/PA2827911503", "coordinates": [ { "allele": "C", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.1:c.739T>C" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser247Pro", "hgvsWellDefined": "NP_001341559.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522571" }, { "coordinates": [ { "allele": "C", "end": 738, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 738, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_005265161.2:c.677+2394T>C" ], "proteinEffect": { "hgvs": "XP_005265218.1:n.677+2394T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS536007" }, { "coordinates": [ { "allele": "C", "end": 714, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 714, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "XM_017006450.2:c.-140+2394T>C" ], "proteinEffect": { "hgvs": "XP_016861939.1:n.-140+2394T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS561484" }, { "@id": "http://reg.genome.network/allele/PA094470", "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_000249.4:c.739T>C" ], "proteinEffect": { "hgvs": "NP_000240.1:p.Ser247Pro", "hgvsWellDefined": "NP_000240.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS674761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000231790.8:c.739T>C" }, "RefSeq": { "hgvs": "NM_000249.4:c.739T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000231790.3:p.Ser247Pro" }, "RefSeq": { "hgvs": "NP_000240.1:p.Ser247Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2826037884", "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167617.3:c.445T>C" ], "proteinEffect": { "hgvs": "NP_001161089.1:p.Ser149Pro", "hgvsWellDefined": "NP_001161089.1:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS713242" }, { "@id": "http://reg.genome.network/allele/PA2826039725", "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167618.3:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001161090.1:p.Ser6Pro", "hgvsWellDefined": "NP_001161090.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS713243" }, { "@id": "http://reg.genome.network/allele/PA2826041568", "coordinates": [ { "allele": "C", "end": 904, "referenceAllele": "T", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001167619.3:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001161091.1:p.Ser6Pro", "hgvsWellDefined": "NP_001161091.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS713244" }, { "@id": "http://reg.genome.network/allele/PA2826457351", "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258271.2:c.739T>C" ], "proteinEffect": { "hgvs": "NP_001245200.1:p.Ser247Pro", "hgvsWellDefined": "NP_001245200.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS714924" }, { "@id": "http://reg.genome.network/allele/PA2826458941", "coordinates": [ { "allele": "C", "end": 678, "referenceAllele": "T", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258273.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001245202.1:p.Ser6Pro", "hgvsWellDefined": "NP_001245202.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS714925" }, { "@id": "http://reg.genome.network/allele/PA2826460783", "coordinates": [ { "allele": "C", "end": 1141, "referenceAllele": "T", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001258274.3:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001245203.1:p.Ser6Pro", "hgvsWellDefined": "NP_001245203.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS714926" }, { "@id": "http://reg.genome.network/allele/PA2827884944", "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "T", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354615.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341544.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341544.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720517" }, { "@id": "http://reg.genome.network/allele/PA2827886789", "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "T", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354616.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341545.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341545.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720518" }, { "@id": "http://reg.genome.network/allele/PA2827888632", "coordinates": [ { "allele": "C", "end": 764, "referenceAllele": "T", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354617.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341546.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341546.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720519" }, { "@id": "http://reg.genome.network/allele/PA2827890475", "coordinates": [ { "allele": "C", "end": 996, "referenceAllele": "T", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354618.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341547.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341547.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720520" }, { "@id": "http://reg.genome.network/allele/PA916038072", "coordinates": [ { "allele": "C", "end": 1120, "referenceAllele": "T", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354619.2:c.16T>C" ], "proteinEffect": { "hgvs": "NP_001341548.1:p.Ser6Pro", "hgvsWellDefined": "NP_001341548.1:p.Ser6Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720521" }, { "@id": "http://reg.genome.network/allele/PA2827894246", "coordinates": [ { "allele": "C", "end": 759, "referenceAllele": "T", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354620.2:c.445T>C" ], "proteinEffect": { "hgvs": "NP_001341549.1:p.Ser149Pro", "hgvsWellDefined": "NP_001341549.1:p.Ser149Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720522" }, { "coordinates": [ { "allele": "C", "end": 934, "endIntronDirection": "+", "endIntronOffset": 2394, "referenceAllele": "T", "start": 934, "startIntronDirection": "+", "startIntronOffset": 2393 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354621.2:c.-140+2394T>C" ], "proteinEffect": { "hgvs": "NP_001341550.1:n.-140+2394T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720523" }, { "coordinates": [ { "allele": "C", "end": 996, "referenceAllele": "T", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354622.2:c.-191T>C" ], "proteinEffect": { "hgvs": "NP_001341551.1:n.-191T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720524" }, { "coordinates": [ { "allele": "C", "end": 905, "referenceAllele": "T", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354623.2:c.-191T>C" ], "proteinEffect": { "hgvs": "NP_001341552.1:n.-191T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720525" }, { "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354624.2:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341553.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720526" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354625.2:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341554.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720527" }, { "coordinates": [ { "allele": "C", "end": 764, "referenceAllele": "T", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354626.2:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341555.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720528" }, { "coordinates": [ { "allele": "C", "end": 996, "referenceAllele": "T", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354627.2:c.-88T>C" ], "proteinEffect": { "hgvs": "NP_001341556.1:n.-88T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS720529" }, { "@id": "http://reg.genome.network/allele/PA2827906865", "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354628.2:c.739T>C" ], "proteinEffect": { "hgvs": "NP_001341557.1:p.Ser247Pro", "hgvsWellDefined": "NP_001341557.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720530" }, { "@id": "http://reg.genome.network/allele/PA2827909173", "coordinates": [ { "allele": "C", "end": 670, "referenceAllele": "T", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354629.2:c.640T>C" ], "proteinEffect": { "hgvs": "NP_001341558.1:p.Ser214Pro", "hgvsWellDefined": "NP_001341558.1:p.Ser214Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720531" }, { "@id": "http://reg.genome.network/allele/PA2827911503", "coordinates": [ { "allele": "C", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007127", "geneNCBI_id": 4292, "geneSymbol": "MLH1", "hgvs": [ "NM_001354630.2:c.739T>C" ], "proteinEffect": { "hgvs": "NP_001341559.1:p.Ser247Pro", "hgvsWellDefined": "NP_001341559.1:p.Ser247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720532" } ], "type": "nucleotide" }