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  "communityStandardTitle": [
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4714331",
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/264641",
        "RCV": [
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        "variationId": 264641
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      "referenceSequence": "http://reg.genome.network/refseq/RS761159"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764401"
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        {
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      "proteinEffect": {
        "hgvs": "ENSP00000492804.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000492804.1:p.Lys233_Val490delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysValArgLeuGluAsnValArgIleGlnMetMetValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "A",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638369.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491811.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491811.1:p.Lys233_Met870delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638424.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491963.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491963.1:p.Lys233_Val798delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValSerPheValGluThrLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "A",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638435.1:c.463A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491850.1:p.Lys155Ter",
        "hgvsWellDefined": "ENSP00000491850.1:p.Lys156_Met854delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638591.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492660.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000492660.1:p.Lys233_Ser375delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheAsnCysAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "A",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638858.1:n.673A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638904.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491318.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491318.1:p.Lys233_Ile738delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlySerProValSerSerSerLeuIleIleLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638936.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492592.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000492592.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000638977.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491010.1:p.Lys232Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "A",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639214.1:n.935A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639342.1:c.502A>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000491022.1:p.Lys169_Met847delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639600.1:c.224A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639681.1:c.*54A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491929.1:n.*54A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "referenceAllele": "A",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639758.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491475.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491475.1:p.Lys233_Met911delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "A",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639902.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490965.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000490965.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000639912.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490970.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000490970.1:p.Lys233_Met911delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "A",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640050.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492051.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000492051.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640145.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491525.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491525.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "A",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640170.1:c.*54A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491270.1:n.*54A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640252.2:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492233.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000492233.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640252.2:c.694A>T"
          },
          "RefSeq": {
            "hgvs": "NM_176787.5:c.694A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492233.1:p.Lys232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_789744.1:p.Lys232Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "A",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640268.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491111.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491111.1:p.Lys233_Cys621delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "A",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640540.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491620.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491620.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "A",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640593.1:c.*54A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492017.1:n.*54A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000640876.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491628.1:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000491628.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000357637.9:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350263.4:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000350263.4:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "A",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000400334.7:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383188.2:p.Lys232Ter",
        "hgvsWellDefined": "ENSP00000383188.2:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000588748.5:c.463A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467458.1:p.Lys155Ter",
        "hgvsWellDefined": "ENSP00000467458.1:p.Lys155_Thr183del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "A",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000589414.5:n.145A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "A",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "ENST00000592803.1:c.88A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829730421",
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_012327.5:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036459.1:p.Lys232Ter",
        "hgvsWellDefined": "NP_036459.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431102",
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_176787.4:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_789744.1:p.Lys232Ter",
        "hgvsWellDefined": "NP_789744.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525889.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524191.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524191.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525890.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524192.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524192.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "A",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525891.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524193.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524193.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "A",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525892.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524194.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524194.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "A",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525893.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524195.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524195.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525894.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524196.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524196.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525895.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524197.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524197.1:p.Lys233_Met970delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525896.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524198.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524198.1:p.Lys233_Met951delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525897.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524199.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524199.1:p.Lys233_Met950delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_011525898.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524200.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_011524200.1:p.Lys233_Ala910delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "A",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_017025685.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881174.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_016881174.1:p.Lys233_Met836delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrArgGlnLeuLeuAlaCysThrAlaTrpLeuPheMetTyrIleSerAlaSerProAsnArgLeuTrpMetLeuSerAspProGlyLeuAspLeuAsnLeuLeuHisAlaIleArgAlaCysIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "XM_017025686.1:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881175.1:p.Lys232Ter",
        "hgvsWellDefined": "XP_016881175.1:p.Lys233_Met797delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431102",
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_176787.5:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_789744.1:p.Lys232Ter",
        "hgvsWellDefined": "NP_789744.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640252.2:c.694A>T"
          },
          "RefSeq": {
            "hgvs": "NM_176787.5:c.694A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492233.1:p.Lys232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_789744.1:p.Lys232Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829730421",
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NM_012327.6:c.694A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036459.1:p.Lys232Ter",
        "hgvsWellDefined": "NP_036459.1:p.Lys233_Met931delinsValAspAspGlyValLysGluIleValSerMetPheAsnHisPheTyrGlyAsnAspGlyLysThrThrPheIlePheThrSerAspHisGlyMetThrAspTrpGlySerHisGlyAlaGlyHisProSerGluThrLeuThrProLeuValThrTrpGlyAlaGlyIleLysTyrProGlnArgValSerAlaGlnGlnPheAspAspAlaPheLeuLysGluTrpArgLeuGluAsnTrpLysArgLeuAspValAsnGlnAlaAspIleAlaProLeuMetThrSerLeuIleGlyValProPheProLeuAsnSerValGlyIleLeuProValAspTyrLeuAsnAsnThrAspLeuPheLysAlaGluSerMetPheThrAsnAlaValGlnIleLeuGluGlnPheLysValLysMetThrGlnLysLysGluValThrLeuProPheLeuPheThrProPheLysLeuLeuSerAspSerLysGlnPheAsnIleLeuArgLysAlaArgSerTyrIleLysHisArgLysPheAspGluValValSerLeuCysLysGluLeuIleHisLeuAlaLeuLysGlyLeuSerTyrTyrHisThrTyrAspArgPhePheLeuGlyValAsnValValIleGlyPheValGlyTrpIleSerTyrAlaSerLeuLeuIleIleLysSerHisSerAsnLeuIleLysGlyValSerLysGluValLysLysProSerHisLeuLeuProCysSerPheValAlaIleGlyIleLeuValAlaPhePheLeuLeuIleGlnAlaCysProTrpThrTyrTyrValTyrGlyLeuLeuProLeuProIleTrpTyrAlaValLeuArgGluPheGlnValIleGlnAspLeuValValSerValLeuThrTyrProLeuSerHisPheValGlyTyrLeuLeuAlaPheThrLeuGlyIleGluValLeuValLeuSerPhePheTyrArgTyrMetLeuThrAlaGlyLeuThrAlaPheAlaAlaTrpProPheLeuThrArgLeuTrpThrArgAlaLysMetThrSerLeuSerTrpThrPhePheSerLeuLeuLeuAlaValPheProLeuMetProValValGlyArgLysProAspIleSerLeuValMetGlyAlaGlyLeuLeuValLeuLeuLeuSerLeuCysValValThrSerLeuMetLysArgLysAspSerPheIleLysGluGluLeuLeuValHisLeuLeuGlnValLeuSerThrValLeuSerMetTyrValValTyrSerThrGlnSerSerLeuLeuArgLysGlnGlyLeuProLeuMetAsnGlnIleIleSerTrpAlaThrLeuAlaSerSerLeuValValProLeuLeuSerSerProValLeuPheGlnArgLeuPheSerIleLeuLeuSerLeuMetSerThrTyrLeuLeuLeuSerThrGlyTyrGluAlaLeuPheProLeuValLeuSerCysLeuMetPheValTrpIleAsnIleGluGlnGluThrLeuGlnGlnSerGlyValCysCysLysGlnLysLeuThrSerIleGlnPheSerTyrAsnThrAspIleThrGlnPheArgGlnLeuTyrLeuAspAspIleArgArgAlaPhePheLeuValPhePheLeuValThrAlaPhePheGlyThrGlyAsnIleAlaSerIleAsnSerPheAspLeuAlaSerValTyrCysPheLeuThrValPheSerProPheMetMetGlyAlaLeuMetMetTrpLysIleLeuIleProPheValLeuValMetCysAlaPheGluAlaValGlnLeuThrThrGlnLeuSerSerLysSerLeuPheLeuIleValLeuValIleSerAspIleMetAlaLeuHisPhePhePheLeuValLysAspTyrGlySerTrpLeuAspIleGlyThrSerIleSerHisTyrValIleValMetSerMetThrIlePheLeuValPheLeuAsnGlyLeuAlaGlnLeuLeuThrThrLysLysLeuArgLeuCysGlyLysProLysSerHisPheMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697046"
    }
  ],
  "type": "nucleotide"
}