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      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.2:c.1143_1144dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.2:p.Asp382AlafsTer?",
        "hgvsWellDefined": "XP_011523422.2:p.[Asp382_Asn394delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu396_Leu398delinsGlnArgSerCysGly;Gln400_Ala402delinsTrpArgPro;Ser404Ala;Glu406_Val407delinsCys;Arg409_Leu411delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547743"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1356,
          "referenceAllele": "",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.2:c.993_994dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.2:p.Asp332AlafsTer?",
        "hgvsWellDefined": "XP_011523423.2:p.[Asp332_Asn344delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu346_Leu348delinsGlnArgSerCysGly;Gln350_Ala352delinsTrpArgPro;Ser354Ala;Glu356_Val357delinsCys;Arg359_Leu361delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547744"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1295,
          "referenceAllele": "",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.2:c.934_935dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.2:p.His313AspfsTer?",
        "hgvsWellDefined": "XP_011523424.2:p.[His313_His320delinsAspIleGlnMetValHisHisCysThrIle;Pro322_Arg323delinsGlyAsnThr;His325delinsGluLeu;Gly327_Ala328delinsGlnMet;Asp331_Gln334delinsSerArgGluVal;Gly337_Ala338del;Ala340_Thr341delinsLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547745"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1132,
          "referenceAllele": "",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.2:c.771_772dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.2:p.Asp258AlafsTer?",
        "hgvsWellDefined": "XP_011523425.2:p.[Asp258_Asn270delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu272_Leu274delinsGlnArgSerCysGly;Gln276_Ala278delinsTrpArgPro;Ser280Ala;Glu282_Val283delinsCys;Arg285_Leu287delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547746"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 859,
          "referenceAllele": "",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.2:c.675_676dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:p.Asp226AlafsTer?",
        "hgvsWellDefined": "XP_011523426.1:p.[Asp226_Asn238delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu240_Leu242delinsGlnArgSerCysGly;Gln244_Ala246delinsTrpArgPro;Ser248Ala;Glu250_Val251delinsCys;Arg253_Leu255delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547747"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 859,
          "referenceAllele": "",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_024450873.1:c.675_676dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306641.1:p.Asp226AlafsTer?",
        "hgvsWellDefined": "XP_024306641.1:p.[Asp226_Asn238delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu240_Leu242delinsGlnArgSerCysGly;Gln244_Ala246delinsTrpArgPro;Ser248Ala;Glu250_Val251delinsCys;Arg253_Leu255delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584402"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1579,
          "referenceAllele": "",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_002958056.1:n.1578_1579dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604183"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 1018,
          "referenceAllele": "",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.4:c.981_982dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Asp328AlafsTer?",
        "hgvsWellDefined": "NP_000014.1:p.[Asp328_Asn340delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu342_Leu344delinsGlnArgSerCysGly;Gln346_Ala348delinsTrpArgPro;Ser350Ala;Glu352_Val353delinsCys;Arg355_Leu357delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.981_982dup"
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.981_982dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:p.Asp328AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:p.Asp328AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 646,
          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.3:c.609_610dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:p.Asp204AlafsTer?",
        "hgvsWellDefined": "NP_001129169.1:p.[Asp204_Asn216delinsAlaThrSerArgTrpSerThrThrAlaProSerThrGly;Glu218_Leu220delinsGlnArgSerCysGly;Gln222_Ala224delinsTrpArgPro;Ser226Ala;Glu228_Val229delinsCys;Arg231_Leu233delinsGlyHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677331"
    },
    {
      "coordinates": [
        {
          "allele": "CG",
          "end": 809,
          "referenceAllele": "",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703679"
    }
  ],
  "type": "nucleotide"
}