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        "hgvsWellDefined": "XP_006720554.1:p.Lys39_Cys468delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "A",
          "start": 171
        }
      ],
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      "geneNCBI_id": 3712,
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        "XM_006720492.2:c.172A>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "A",
          "start": 171
        }
      ],
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      "geneNCBI_id": 3712,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006720556.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_006720556.1:p.Lys58_Ala418delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "A",
          "start": 171
        }
      ],
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      "geneNCBI_id": 3712,
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        "XM_006720494.2:c.172A>T"
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      "proteinEffect": {
        "hgvs": "XP_006720557.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_006720557.1:p.Lys58_Ser389delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "A",
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      ],
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      "geneNCBI_id": 3712,
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        "XM_006720495.2:c.172A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006720558.1:p.Lys58_Arg347delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "A",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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        "XM_011521523.1:c.172A>T"
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      "proteinEffect": {
        "hgvs": "XP_011519825.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_011519825.1:p.Lys58_Ser434delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerLysGlyTrpIleAspLysTrpGluPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "XM_011521524.1:c.172A>T"
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      "proteinEffect": {
        "hgvs": "XP_011519826.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_011519826.1:p.Lys58_Leu279delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "XR_429453.2:n.273A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 284,
          "referenceAllele": "A",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.2:c.145-285A>T"
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      "proteinEffect": {
        "hgvs": "NP_001152980.2:n.145-285A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879637",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "NM_001354597.2:c.115A>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880004",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341527.2:p.Lys55_Ala444delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880355",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.2:c.163A>T"
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      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Lys55Ter",
        "hgvsWellDefined": "NP_001341528.2:p.Lys55_His452delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880720",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.2:c.163A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341529.2:p.Lys55_Ala473delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880959",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
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        "NM_001354601.2:c.163A>T"
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      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Lys55Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741890992",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
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      "geneNCBI_id": 3712,
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        "NM_002225.4:c.163A>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
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      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.573A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "A",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.172A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_006720558.1:p.Lys58_Arg347delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "A",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "XM_017022149.1:c.172A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016877638.1:p.Lys58_Cys516delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "referenceAllele": "A",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.172A>T"
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      "proteinEffect": {
        "hgvs": "XP_016877639.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_016877639.1:p.Lys58_Asp478delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerGlyGlnTrpIleSerGlyGlySerThrGluGlyCysProCysTrpGlnLysLysGluGlyArgLysGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "A",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016877642.1:p.Lys58_Ala447delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "XM_017022154.2:c.115A>T"
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      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Lys39Ter",
        "hgvsWellDefined": "XP_016877643.1:p.Lys39_His436delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "A",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016877644.1:p.Lys58_Ser418delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "referenceAllele": "A",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "XM_017022157.1:c.172A>T"
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      "proteinEffect": {
        "hgvs": "XP_016877646.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_016877646.1:p.Lys58_Arg376delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "referenceAllele": "A",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "XM_017022158.2:c.172A>T"
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      "proteinEffect": {
        "hgvs": "XP_016877647.1:p.Lys58Ter",
        "hgvsWellDefined": "XP_016877647.1:p.Lys58_Leu308delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "XR_001751263.1:n.522A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "A",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751264.1:n.563A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 284,
          "referenceAllele": "A",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.145-285A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:n.145-285A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879637",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.115A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Lys39Ter",
        "hgvsWellDefined": "NP_001341526.1:p.Lys39_His407delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880004",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.163A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Lys55Ter",
        "hgvsWellDefined": "NP_001341527.2:p.Lys55_Ala444delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880355",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.163A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Lys55Ter",
        "hgvsWellDefined": "NP_001341528.2:p.Lys55_His452delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880720",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.163A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Lys55Ter",
        "hgvsWellDefined": "NP_001341529.2:p.Lys55_Ala473delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880959",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.163A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Lys55Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Lys55_Cys484delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741890992",
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.163A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Lys55Ter",
        "hgvsWellDefined": "NP_002216.3:p.Lys55_His423delinsPheLeuGlnGluHisLeuAlaProLysAlaGlnGluIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.163A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.163A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Lys55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Lys55Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.575A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}