{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413849819",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972381[alleleid]",
        "alleleId": 972381,
        "preferredName": "NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983895",
        "RCV": [
          "RCV001263898"
        ],
        "variationId": 983895
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107858167G>T?assembly=hg19",
        "id": "chrX:g.107858167G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108614937G>T?assembly=hg38",
        "id": "chrX:g.108614937G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2066899099",
        "rs": 2066899099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 108614937,
          "referenceAllele": "G",
          "start": 108614936
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108614937G>T",
        "CM000685.2:g.108614937G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107858167,
          "referenceAllele": "G",
          "start": 107858166
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107858167G>T",
        "CM000685.1:g.107858167G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107744823,
          "referenceAllele": "G",
          "start": 107744822
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107744823G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180014,
          "referenceAllele": "G",
          "start": 180013
        }
      ],
      "hgvs": [
        "NG_011977.1:g.180014G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180014,
          "referenceAllele": "G",
          "start": 180013
        }
      ],
      "hgvs": [
        "NG_011977.2:g.180014G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.2422G>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2422G>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2422G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Gly808Ter"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Gly808Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "G",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Gly808Ter",
        "hgvsWellDefined": "ENSP00000354505.2:p.Gly808_Thr1685delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Gly808Ter",
        "hgvsWellDefined": "ENSP00000331902.6:p.Gly808_Thr1691delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Gly808Ter",
        "hgvsWellDefined": "ENSP00000354505.2:p.Gly808_Thr1685delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.1878G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825198921",
      "coordinates": [
        {
          "allele": "T",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Gly808Ter",
        "hgvsWellDefined": "NP_000486.1:p.Gly808_Thr1685delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139746496",
      "coordinates": [
        {
          "allele": "T",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Gly808Ter",
        "hgvsWellDefined": "NP_203699.1:p.Gly808_Thr1691delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Gly808Ter",
        "hgvsWellDefined": "XP_005262127.1:p.Gly808_Thr1688delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Gly808Ter",
        "hgvsWellDefined": "XP_005262129.1:p.Gly808_Lys1096delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysMetIleArgArgTyrValLeuGlyPheValAlaSerProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Gly808Ter",
        "hgvsWellDefined": "XP_006724679.1:p.Gly808_Thr1691delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.2098G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Gly700Ter",
        "hgvsWellDefined": "XP_011529151.1:p.Gly700_Thr1583delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Gly808Ter",
        "hgvsWellDefined": "XP_011529152.1:p.Gly808_Cys1284delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
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        "XM_011530851.1:c.-6G>T"
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      "proteinEffect": {
        "hgvs": "XP_011529153.1:n.-6G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
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        }
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        "hgvsWellDefined": "XP_011529151.2:p.Gly813_Thr1696delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016884748.1:p.Gly813_Thr1693delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016884749.1:p.Gly813_Thr1690delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.757G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016884752.1:p.Gly253_Thr1136delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825198921",
      "coordinates": [
        {
          "allele": "T",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Gly808Ter",
        "hgvsWellDefined": "NP_000486.1:p.Gly808_Thr1685delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139746496",
      "coordinates": [
        {
          "allele": "T",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.2422G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Gly808Ter",
        "hgvsWellDefined": "NP_203699.1:p.Gly808_Thr1691delinsProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnGlyAsnProGlyArgProGlyLeuAsnGlyMetLysGlyAspProGlyLeuProGlyValProGlyPheProGlyMetLysGlyProSerGlyValProGlySerAlaGlyProGluGlyGluProGlyLeuIleGlyProProGlyProProGlyLeuProGlyProSerGlyGlnSerIleIleIleLysGlyAspAlaGlyProProGlyIleProGlyGlnProGlyLeuLysGlyLeuProGlyProGlnGlyProGlnGlyLeuProGlyProThrGlyProProGlyAspProGlyArgAsnGlyLeuProGlyPheAspGlyAlaGlyGlyArgLysGlyAspProGlyLeuProGlyGlnProGlyThrArgGlyLeuAspGlyProProGlyProAspGlyLeuGlnGlyProProGlyProProGlyThrSerSerValAlaHisGlyPheLeuIleThrArgHisSerGlnThrThrAspAlaProGlnCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2422G>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2422G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Gly808Ter"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Gly808Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}