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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS023892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
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      "referenceSequence": "http://reg.genome.network/refseq/RS078616"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "start": 585
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      ],
      "gene": "http://reg.genome.network/gene/GN009121",
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      "hgvs": [
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          "endIntronDirection": "-",
          "endIntronOffset": 8576,
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      "referenceSequence": "http://reg.genome.network/refseq/RS513992"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
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      "referenceSequence": "http://reg.genome.network/refseq/RS513993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1402
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      ],
      "gene": "http://reg.genome.network/gene/GN009121",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513994"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249399539",
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NM_001321048.1:c.697C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001307977.1:p.Gln233_Thr932delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "C",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "XM_011511356.3:c.169C>T"
      ],
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        "hgvsWellDefined": "NP_001307974.1:p.Gln233_Thr932delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NM_001321046.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307975.1:p.Gln172Ter",
        "hgvsWellDefined": "NP_001307975.1:p.Gln172_Thr871delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NM_001321047.2:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307976.1:p.Gln233Ter",
        "hgvsWellDefined": "NP_001307976.1:p.Gln233_Thr932delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249399539",
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NM_001321048.2:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307977.1:p.Gln233Ter",
        "hgvsWellDefined": "NP_001307977.1:p.Gln233_Thr932delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "-",
          "endIntronOffset": 8576,
          "referenceAllele": "C",
          "start": 843,
          "startIntronDirection": "-",
          "startIntronOffset": 8577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NR_110332.2:n.844-8577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NM_001289408.2:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276337.1:p.Gln57Ter",
        "hgvsWellDefined": "NP_001276337.1:p.Gln57_Thr756delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009121",
      "geneNCBI_id": 5378,
      "geneSymbol": "PMS1",
      "hgvs": [
        "NM_001289409.2:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276338.1:p.Gln57Ter",
        "hgvsWellDefined": "NP_001276338.1:p.Gln57_Thr756delinsIleTyrLeuSerGlyPheLeuProLysCysAspAlaAspHisSerPheThrSerLeuSerThrProGluArgSerPheIlePheIleAsnSerArgProValHisGlnLysAspIleLeuLysLeuIleArgHisHisTyrAsnLeuLysCysLeuLysGluSerThrArgLeuTyrProValPhePheLeuLysIleAspValProThrAlaAspValAspValAsnLeuThrProAspLysSerGlnValLeuLeuGlnAsnLysGluSerValLeuIleAlaLeuGluAsnLeuMetThrThrCysTyrGlyProLeuProSerThrAsnSerTyrGluAsnAsnLysThrAspValSerAlaAlaAspIleValLeuSerLysThrAlaGluThrAspValLeuPheAsnLysValGluSerSerGlyLysAsnTyrSerAsnValAspThrSerValIleProPheGlnAsnAspMetHisAsnAspGluSerGlyLysAsnThrAspAspCysLeuAsnHisGlnIleSerIleGlyAspPheGlyTyrGlyHisCysSerSerGluIleSerAsnIleAspLysAsnThrLysAsnAlaPheGlnAspIleSerMetSerAsnValSerTrpGluAsnSerGlnThrGluTyrSerLysThrCysPheIleSerSerValLysHisThrGlnSerGluAsnGlyAsnLysAspHisIleAspGluSerGlyGluAsnGluGluGluAlaGlyLeuGluAsnSerSerGluIleSerAlaAspGluTrpSerArgGlyAsnIleLeuLysAsnSerValGlyGluAsnIleGluProValLysIleLeuValProGluLysSerLeuProCysLysValSerAsnAsnAsnTyrProIleProGluGlnMetAsnLeuAsnGluAspSerCysAsnLysLysSerAsnValIleAspAsnLysSerGlyLysValThrAlaTyrAspLeuLeuSerAsnArgValIleLysLysProMetSerAlaSerAlaLeuPheValGlnAspHisArgProGlnPheLeuIleGluAsnProLysThrSerLeuGluAspAlaThrLeuGlnIleGluGluLeuTrpLysThrLeuSerGluGluGluLysLeuLysTyrGluGluLysAlaThrLysAspLeuGluArgTyrAsnSerGlnMetLysArgAlaIleGluGlnGluSerGlnMetSerLeuLysAspGlyArgLysLysIleLysProThrSerAlaTrpAsnLeuAlaGlnLysHisLysLeuLysThrSerLeuSerAsnGlnProLysLeuAspGluLeuLeuGlnSerGlnIleGluLysArgArgSerGlnAsnIleLysMetValGlnIleProPheSerMetLysAsnLeuLysIleAsnPheLysLysGlnAsnLysValAspLeuGluGluLysAspGluProCysLeuIleHisAsnLeuArgPheProAspAlaTrpLeuMetThrSerLysThrGluValMetLeuLeuAsnProTyrArgValGluGluAlaLeuLeuPheLysArgLeuLeuGluAsnHisLysLeuProAlaGluProLeuGluLysProIleMetLeuThrGluSerLeuPheAsnGlySerHisTyrLeuAspValLeuTyrLysMetThrAlaAspAspGlnArgTyrSerGlySerThrTyrLeuSerAspProArgLeuThrAlaAsnGlyPheLysIleLysLeuIleProGlyValSerIleThrGluAsnTyrLeuGluIleGluGlyMetAlaAsnCysLeuProPheTyrGlyValAlaAspLeuLysGluIleLeuAsnAlaIleLeuAsnArgAsnAlaLysGluValTyrGluCysArgProArgLysValIleSerTyrLeuGluGlyGluAlaValArgLeuSerArgGlnLeuProMetTyrLeuSerLysGluAspIleGlnAspIleIleTyrArgMetLysHisGlnPheGlyAsnGluIleLysGluCysValHisGlyArgProPhePheHisHisLeuThrTyrLeuProGluThrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716599"
    }
  ],
  "type": "nucleotide"
}