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        "hgvsWellDefined": "NP_001361286.1:p.Arg451_Asn676delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693244"
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    {
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      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374358.1:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361287.1:p.Arg373Ter",
        "hgvsWellDefined": "NP_001361287.1:p.Arg373_Asn598delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508057",
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          "allele": "T",
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          "referenceAllele": "C",
          "start": 1345
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001361288.1:p.Arg337_Asn562delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508358",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374360.1:c.1009C>T"
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      "proteinEffect": {
        "hgvs": "NP_001361289.1:p.Arg337Ter",
        "hgvsWellDefined": "NP_001361289.1:p.Arg337_Asn544delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508638",
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374361.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361290.1:p.Arg298Ter",
        "hgvsWellDefined": "NP_001361290.1:p.Arg298_Asn523delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048646",
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.7:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Arg526Ter",
        "hgvsWellDefined": "NP_079272.4:p.Arg526_Asn751delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1576C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1576C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Arg526Ter"
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          "RefSeq": {
            "hgvs": "NP_079272.4:p.Arg526Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "referenceAllele": "C",
          "start": 1598
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS705743"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164500.1:n.1684C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS705744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164501.1:n.1229C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS705745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1562
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS705746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247576",
      "coordinates": [
        {
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          "start": 1740
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.2:c.1633C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001295093.1:p.Arg545_Asn770delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928771",
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
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          "start": 1683
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      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Arg526Ter",
        "hgvsWellDefined": "NP_001295095.1:p.Arg526_Phe591delinsGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717236"
    }
  ],
  "type": "nucleotide"
}