{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2144683",
  "communityStandardTitle": [
    "NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962678[alleleid]",
        "alleleId": 962678,
        "preferredName": "NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974516",
        "RCV": [
          "RCV001281290"
        ],
        "variationId": 974516
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-227917081-G-A",
        "id": "2-227917081-G-A",
        "variant": "2:227917081 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227917081G>A?assembly=hg19",
        "id": "chr2:g.227917081G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227052365G>A?assembly=hg38",
        "id": "chr2:g.227052365G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372413045",
        "rs": 372413045
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227917081-G-A?dataset=gnomad_r2_1",
        "id": "2-227917081-G-A",
        "variant": "2:227917081 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227052365-G-A?dataset=gnomad_r4",
        "id": "2-227052365-G-A",
        "variant": "2:227052365 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227052365,
          "referenceAllele": "G",
          "start": 227052364
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227052365G>A",
        "CM000664.2:g.227052365G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227917081,
          "referenceAllele": "G",
          "start": 227917080
        }
      ],
      "hgvs": [
        "NC_000002.11:g.227917081G>A",
        "CM000664.1:g.227917081G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227625325,
          "referenceAllele": "G",
          "start": 227625324
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227625325G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117195,
          "referenceAllele": "C",
          "start": 117194
        }
      ],
      "hgvs": [
        "NG_011592.1:g.117195C>T",
        "LRG_231:g.117195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001840"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3208,
          "referenceAllele": "C",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.5:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000379866.3:p.Gln970_Ser1690delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.2908C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.2908C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Gln970Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Gln970Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3116,
          "referenceAllele": "C",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000379866.3:p.Gln970_Ser1690delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139697481",
      "coordinates": [
        {
          "allele": "T",
          "end": 3562,
          "referenceAllele": "C",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.4:c.2908C>T",
        "LRG_231t1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Gln970Ter",
        "hgvsWellDefined": "NP_000083.3:p.Gln970_Ser1690delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3093,
          "referenceAllele": "C",
          "start": 3092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005246338.1:p.Gln970_Ser1690delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "referenceAllele": "C",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Gln785Ter",
        "hgvsWellDefined": "XP_005246339.1:p.Gln785_Ser1505delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_006712309.1:p.Gln970_Ser1627delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712249.2:c.2908C>T"
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      "proteinEffect": {
        "hgvs": "XP_006712312.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_006712312.1:p.Gln970_Val1611delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValValSerAlaSerArgTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712251.2:c.2908C>T"
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      "proteinEffect": {
        "hgvs": "XP_006712314.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_006712314.1:p.Gln970_Ser1445delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyThrGlnGluLeuGluAlaGluLeuAsnPheValProLeuValPheLeuValValProGlnAsnGlnGluValLysCysProArgAspValProLeuAsnArgSerGlnThrArgSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006712315.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_006712315.1:p.Gln970_Asn1420delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.1:c.2908C>T"
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      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011508859.1:p.Gln970_Ser1663delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.1:c.2800C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Gln934Ter",
        "hgvsWellDefined": "XP_011508860.1:p.Gln934_Ser1654delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011508861.1:p.Gln970_Leu1612delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011508862.1:p.Gln970_Leu1612delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011508863.1:p.Gln970_Phe1608delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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        "hgvsWellDefined": "XP_011508864.1:p.Gln970_Phe1608delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508865.1:p.Gln970_Leu1470delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyValProLeuCysProGluLysArgGlnIleLeuLeuAlaGlyGlnArgCysAlaProProHisAspAlaThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508866.1:p.Gln970_Leu1431delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyValProLeuCysProGluLysArgGlnIleLeuLeuAlaGlyGlnArgCysAlaProProHisAspAlaThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508867.1:p.Gln970_Pro1424delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyGluCysLeuSerLeuCysLeuMetLeuHisThrCysCysLeuSerSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508868.1:p.Gln970_Asn1420delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508869.1:p.Gln970_Asn1420delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508870.1:p.Gln970_Ile1419delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyAlaAlaAlaAlaAlaAlaGlyProValThrThrLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508871.1:p.Gln970_Lys1414delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011508872.1:p.Gln970_Lys1414delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS077833"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
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        {
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          "referenceAllele": "C",
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      "referenceSequence": "http://reg.genome.network/refseq/RS077835"
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      "referenceSequence": "http://reg.genome.network/refseq/RS119899"
    },
    {
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS119900"
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS119901"
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS119902"
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS532576"
    },
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      "coordinates": [
        {
          "allele": "T",
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        "hgvsWellDefined": "XP_005246339.1:p.Gln785_Ser1505delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS532577"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
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      ],
      "gene": "http://reg.genome.network/gene/GN002206",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
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      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508859.1:p.Gln970_Ser1663delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3126,
          "referenceAllele": "C",
          "start": 3125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.2:c.2800C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Gln934Ter",
        "hgvsWellDefined": "XP_011508860.1:p.Gln934_Ser1654delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
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      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS541768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
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      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
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      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
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      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508864.1:p.Gln970_Phe1608delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508868.1:p.Gln970_Asn1420delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508870.1:p.Gln970_Ile1419delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyAlaAlaAlaAlaAlaAlaGlyProValThrThrLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541776"
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN002206",
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        "hgvsWellDefined": "XP_011508872.1:p.Gln970_Lys1414delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "C",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508874.1:p.Gln412_Ser1132delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016858785.1:p.Gln970_Phe1659delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValSerProValProLeuLysThrLeuAlaHisSerProPheProAsnThrPheSerArgHisPheSerLeuAspTrpThrValIleLeuSerThrLeuArgLeuGlyHisLysValThrGlyThrValAlaAsnHisSerLeuLeuGlyCysArgAlaIleIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003297.1:c.2908C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016858786.1:p.Gln970_Ser1651delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016858787.1:p.Gln970_Phe1608delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetLeuMetGlyValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016858788.1:p.Gln970_Ala1518delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyMetAspThrGlySerProIleSerIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016858789.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_016858789.1:p.Gln970_Lys1414delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProAlaHisGlyCysValLeuArgThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738602.1:n.3234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738603.1:n.3234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738604.1:n.3234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738606.1:n.3234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738607.1:n.3234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.2:n.3234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139697481",
      "coordinates": [
        {
          "allele": "T",
          "end": 3208,
          "referenceAllele": "C",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.5:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Gln970Ter",
        "hgvsWellDefined": "NP_000083.3:p.Gln970_Ser1690delinsLysGlyThrProGlyGluProGlyProProGlyAspAspGlyPheProGlyGluArgGlyAspLysGlyThrProGlyMetGlnGlyArgArgGlyGluProGlyArgTyrGlyProProGlyPheHisArgGlyGluProGlyGluLysGlyGlnProGlyProProGlyProProGlyProProGlySerThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.2908C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.2908C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Gln970Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Gln970Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}