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  "communityStandardTitle": [
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      "proteinEffect": {
        "hgvs": "ENSP00000360985.4:p.Gln1057Ter",
        "hgvsWellDefined": "ENSP00000360985.4:p.Gln1057_Trp1785delinsGluSerValGlyGluThrSerSerGlnSerValValValAlaValAspArgIlePheThrGlySerThrArgLeuAspGlyAsnAlaIleValAspPheValArgTrpLeuCysAlaValSerMetAspGluLeuAlaSerProHisHisProArgMetPheSerLeuGlnLysIleValGluIleSerTyrTyrAsnMetAsnArgIleArgLeuGlnTrpSerArgIleTrpHisValIleGlyAspHisPheAsnLysValGlyCysAsnProAsnGluAspValAlaIlePheAlaValAspSerLeuArgGlnLeuSerMetLysPheLeuGluLysGlyGluLeuAlaAsnPheArgPheGlnLysAspPheLeuArgProPheGluHisIleMetLysLysAsnArgSerProThrIleArgAspMetAlaIleArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheAlaValPheHisGlnAlaAlaSerAspHisAspGlyAsnIleValGluLeuAlaPheGlnThrThrCysHisIleValThrThrIlePheGlnHisHisPheProAlaAlaIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgPheCysGlyLysTyrValSerGluArgProArgValLeuGlnGluTyrThrSerAspAspMetAsnValAlaProGlyAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysSerTyrGlyHisThrPheGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnLeuSerGluLysSerGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnPheTyrGluAlaLeuAsnGluValLeuLeuSerAspValPheAlaGlnLeuGlnTrpCysValLysGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnLeuValIleSerAsnGlyGluLysPheSerProGluValTrpAspGluThrCysAsnCysMetLeuAspIlePheLysThrThrIleProHisValLeuLeuThrTrpArgProValGlyMetGluGluAspSerSerGluLysHisLeuAspValAspLeuAspArgGlnSerLeuSerSerIleAspLysAsnProSerGluArgGlyGlnSerGlnLeuSerAsnProThrAspAspSerTrpLysGlyArgProTyrAlaAsnGlnLysLeuPheAlaSerLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPheTyrProAlaThrSerLysLysGluAspAlaGluHisMetValAlaAlaGlnGlnAspThrLeuAspAlaAspIleHisIleGluThrGluAspGlnGlyMetTyrLysTyrMetSerSerGlnHisLeuPheLysLeuLeuAspCysLeuGlnGluSerHisSerPheSerLysAlaPheAsnSerAsnTyrGluGlnArgThrValLeuTrpArgAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysCysLeuArgIleLeuPheArgMetTyrValAspGluAsnArgArgAspSerTrpGluGluIleGlnGlnArgLeuLeuThrValCysSerGluAlaLeuAlaTyrPheIleThrValAsnSerGluSerHisArgGluAlaTrpThrSerLeuLeuLeuLeuLeuLeuThrLysThrLeuLysIleAsnAspGluLysPheLysAlaHisAlaSerMetTyrTyrProTyrLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgLysPhePheLeuArgIleGlyValValTyrLysIleTrpIleProGluGluProSerGlnValProAlaAlaLeuSerProValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493979",
      "coordinates": [
        {
          "allele": "T",
          "end": 3321,
          "referenceAllele": "C",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015853",
      "geneNCBI_id": 10564,
      "geneSymbol": "ARFGEF2",
      "hgvs": [
        "NM_006420.2:c.3169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006411.2:p.Gln1057Ter",
        "hgvsWellDefined": "NP_006411.2:p.Gln1057_Trp1785delinsGluSerValGlyGluThrSerSerGlnSerValValValAlaValAspArgIlePheThrGlySerThrArgLeuAspGlyAsnAlaIleValAspPheValArgTrpLeuCysAlaValSerMetAspGluLeuAlaSerProHisHisProArgMetPheSerLeuGlnLysIleValGluIleSerTyrTyrAsnMetAsnArgIleArgLeuGlnTrpSerArgIleTrpHisValIleGlyAspHisPheAsnLysValGlyCysAsnProAsnGluAspValAlaIlePheAlaValAspSerLeuArgGlnLeuSerMetLysPheLeuGluLysGlyGluLeuAlaAsnPheArgPheGlnLysAspPheLeuArgProPheGluHisIleMetLysLysAsnArgSerProThrIleArgAspMetAlaIleArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheAlaValPheHisGlnAlaAlaSerAspHisAspGlyAsnIleValGluLeuAlaPheGlnThrThrCysHisIleValThrThrIlePheGlnHisHisPheProAlaAlaIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgPheCysGlyLysTyrValSerGluArgProArgValLeuGlnGluTyrThrSerAspAspMetAsnValAlaProGlyAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysSerTyrGlyHisThrPheGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnLeuSerGluLysSerGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnPheTyrGluAlaLeuAsnGluValLeuLeuSerAspValPheAlaGlnLeuGlnTrpCysValLysGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnLeuValIleSerAsnGlyGluLysPheSerProGluValTrpAspGluThrCysAsnCysMetLeuAspIlePheLysThrThrIleProHisValLeuLeuThrTrpArgProValGlyMetGluGluAspSerSerGluLysHisLeuAspValAspLeuAspArgGlnSerLeuSerSerIleAspLysAsnProSerGluArgGlyGlnSerGlnLeuSerAsnProThrAspAspSerTrpLysGlyArgProTyrAlaAsnGlnLysLeuPheAlaSerLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPheTyrProAlaThrSerLysLysGluAspAlaGluHisMetValAlaAlaGlnGlnAspThrLeuAspAlaAspIleHisIleGluThrGluAspGlnGlyMetTyrLysTyrMetSerSerGlnHisLeuPheLysLeuLeuAspCysLeuGlnGluSerHisSerPheSerLysAlaPheAsnSerAsnTyrGluGlnArgThrValLeuTrpArgAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysCysLeuArgIleLeuPheArgMetTyrValAspGluAsnArgArgAspSerTrpGluGluIleGlnGlnArgLeuLeuThrValCysSerGluAlaLeuAlaTyrPheIleThrValAsnSerGluSerHisArgGluAlaTrpThrSerLeuLeuLeuLeuLeuLeuThrLysThrLeuLysIleAsnAspGluLysPheLysAlaHisAlaSerMetTyrTyrProTyrLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgLysPhePheLeuArgIleGlyValValTyrLysIleTrpIleProGluGluProSerGlnValProAlaAlaLeuSerProValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3335,
          "referenceAllele": "C",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015853",
      "geneNCBI_id": 10564,
      "geneSymbol": "ARFGEF2",
      "hgvs": [
        "XM_005260252.2:c.3166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260309.1:p.Gln1056Ter",
        "hgvsWellDefined": "XP_005260309.1:p.Gln1056_Trp1784delinsGluSerValGlyGluThrSerSerGlnSerValValValAlaValAspArgIlePheThrGlySerThrArgLeuAspGlyAsnAlaIleValAspPheValArgTrpLeuCysAlaValSerMetAspGluLeuAlaSerProHisHisProArgMetPheSerLeuGlnLysIleValGluIleSerTyrTyrAsnMetAsnArgIleArgLeuGlnTrpSerArgIleTrpHisValIleGlyAspHisPheAsnLysValGlyCysAsnProAsnGluAspValAlaIlePheAlaValAspSerLeuArgGlnLeuSerMetLysPheLeuGluLysGlyGluLeuAlaAsnPheArgPheGlnLysAspPheLeuArgProPheGluHisIleMetLysLysAsnArgSerProThrIleArgAspMetAlaIleArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheAlaValPheHisGlnAlaAlaSerAspHisAspGlyAsnIleValGluLeuAlaPheGlnThrThrCysHisIleValThrThrIlePheGlnHisHisPheProAlaAlaIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgPheCysGlyLysTyrValSerGluArgProArgValLeuGlnGluTyrThrSerAspAspMetAsnValAlaProGlyAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysSerTyrGlyHisThrPheGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnLeuSerGluLysSerGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnPheTyrGluAlaLeuAsnGluValLeuLeuSerAspValPheAlaGlnLeuGlnTrpCysValLysGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnLeuValIleSerAsnGlyGluLysPheSerProGluValTrpAspGluThrCysAsnCysMetLeuAspIlePheLysThrThrIleProHisValLeuLeuThrTrpArgProValGlyMetGluGluAspSerSerGluLysHisLeuAspValAspLeuAspArgGlnSerLeuSerSerIleAspLysAsnProSerGluArgGlyGlnSerGlnLeuSerAsnProThrAspAspSerTrpLysGlyArgProTyrAlaAsnGlnLysLeuPheAlaSerLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPheTyrProAlaThrSerLysLysGluAspAlaGluHisMetValAlaAlaGlnGlnAspThrLeuAspAlaAspIleHisIleGluThrGluAspGlnGlyMetTyrLysTyrMetSerSerGlnHisLeuPheLysLeuLeuAspCysLeuGlnGluSerHisSerPheSerLysAlaPheAsnSerAsnTyrGluGlnArgThrValLeuTrpArgAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysCysLeuArgIleLeuPheArgMetTyrValAspGluAsnArgArgAspSerTrpGluGluIleGlnGlnArgLeuLeuThrValCysSerGluAlaLeuAlaTyrPheIleThrValAsnSerGluSerHisArgGluAlaTrpThrSerLeuLeuLeuLeuLeuLeuThrLysThrLeuLysIleAsnAspGluLysPheLysAlaHisAlaSerMetTyrTyrProTyrLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgLysPhePheLeuArgIleGlyValValTyrLysIleTrpIleProGluGluProSerGlnValProAlaAlaLeuSerProValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3335,
          "referenceAllele": "C",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015853",
      "geneNCBI_id": 10564,
      "geneSymbol": "ARFGEF2",
      "hgvs": [
        "XM_005260252.3:c.3166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260309.1:p.Gln1056Ter",
        "hgvsWellDefined": "XP_005260309.1:p.Gln1056_Trp1784delinsGluSerValGlyGluThrSerSerGlnSerValValValAlaValAspArgIlePheThrGlySerThrArgLeuAspGlyAsnAlaIleValAspPheValArgTrpLeuCysAlaValSerMetAspGluLeuAlaSerProHisHisProArgMetPheSerLeuGlnLysIleValGluIleSerTyrTyrAsnMetAsnArgIleArgLeuGlnTrpSerArgIleTrpHisValIleGlyAspHisPheAsnLysValGlyCysAsnProAsnGluAspValAlaIlePheAlaValAspSerLeuArgGlnLeuSerMetLysPheLeuGluLysGlyGluLeuAlaAsnPheArgPheGlnLysAspPheLeuArgProPheGluHisIleMetLysLysAsnArgSerProThrIleArgAspMetAlaIleArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheAlaValPheHisGlnAlaAlaSerAspHisAspGlyAsnIleValGluLeuAlaPheGlnThrThrCysHisIleValThrThrIlePheGlnHisHisPheProAlaAlaIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgPheCysGlyLysTyrValSerGluArgProArgValLeuGlnGluTyrThrSerAspAspMetAsnValAlaProGlyAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysSerTyrGlyHisThrPheGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnLeuSerGluLysSerGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnPheTyrGluAlaLeuAsnGluValLeuLeuSerAspValPheAlaGlnLeuGlnTrpCysValLysGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnLeuValIleSerAsnGlyGluLysPheSerProGluValTrpAspGluThrCysAsnCysMetLeuAspIlePheLysThrThrIleProHisValLeuLeuThrTrpArgProValGlyMetGluGluAspSerSerGluLysHisLeuAspValAspLeuAspArgGlnSerLeuSerSerIleAspLysAsnProSerGluArgGlyGlnSerGlnLeuSerAsnProThrAspAspSerTrpLysGlyArgProTyrAlaAsnGlnLysLeuPheAlaSerLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPheTyrProAlaThrSerLysLysGluAspAlaGluHisMetValAlaAlaGlnGlnAspThrLeuAspAlaAspIleHisIleGluThrGluAspGlnGlyMetTyrLysTyrMetSerSerGlnHisLeuPheLysLeuLeuAspCysLeuGlnGluSerHisSerPheSerLysAlaPheAsnSerAsnTyrGluGlnArgThrValLeuTrpArgAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysCysLeuArgIleLeuPheArgMetTyrValAspGluAsnArgArgAspSerTrpGluGluIleGlnGlnArgLeuLeuThrValCysSerGluAlaLeuAlaTyrPheIleThrValAsnSerGluSerHisArgGluAlaTrpThrSerLeuLeuLeuLeuLeuLeuThrLysThrLeuLysIleAsnAspGluLysPheLysAlaHisAlaSerMetTyrTyrProTyrLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgLysPhePheLeuArgIleGlyValValTyrLysIleTrpIleProGluGluProSerGlnValProAlaAlaLeuSerProValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493979",
      "coordinates": [
        {
          "allele": "T",
          "end": 3348,
          "referenceAllele": "C",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015853",
      "geneNCBI_id": 10564,
      "geneSymbol": "ARFGEF2",
      "hgvs": [
        "NM_006420.3:c.3169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006411.2:p.Gln1057Ter",
        "hgvsWellDefined": "NP_006411.2:p.Gln1057_Trp1785delinsGluSerValGlyGluThrSerSerGlnSerValValValAlaValAspArgIlePheThrGlySerThrArgLeuAspGlyAsnAlaIleValAspPheValArgTrpLeuCysAlaValSerMetAspGluLeuAlaSerProHisHisProArgMetPheSerLeuGlnLysIleValGluIleSerTyrTyrAsnMetAsnArgIleArgLeuGlnTrpSerArgIleTrpHisValIleGlyAspHisPheAsnLysValGlyCysAsnProAsnGluAspValAlaIlePheAlaValAspSerLeuArgGlnLeuSerMetLysPheLeuGluLysGlyGluLeuAlaAsnPheArgPheGlnLysAspPheLeuArgProPheGluHisIleMetLysLysAsnArgSerProThrIleArgAspMetAlaIleArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheAlaValPheHisGlnAlaAlaSerAspHisAspGlyAsnIleValGluLeuAlaPheGlnThrThrCysHisIleValThrThrIlePheGlnHisHisPheProAlaAlaIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgPheCysGlyLysTyrValSerGluArgProArgValLeuGlnGluTyrThrSerAspAspMetAsnValAlaProGlyAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysSerTyrGlyHisThrPheGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnLeuSerGluLysSerGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnPheTyrGluAlaLeuAsnGluValLeuLeuSerAspValPheAlaGlnLeuGlnTrpCysValLysGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnLeuValIleSerAsnGlyGluLysPheSerProGluValTrpAspGluThrCysAsnCysMetLeuAspIlePheLysThrThrIleProHisValLeuLeuThrTrpArgProValGlyMetGluGluAspSerSerGluLysHisLeuAspValAspLeuAspArgGlnSerLeuSerSerIleAspLysAsnProSerGluArgGlyGlnSerGlnLeuSerAsnProThrAspAspSerTrpLysGlyArgProTyrAlaAsnGlnLysLeuPheAlaSerLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPheTyrProAlaThrSerLysLysGluAspAlaGluHisMetValAlaAlaGlnGlnAspThrLeuAspAlaAspIleHisIleGluThrGluAspGlnGlyMetTyrLysTyrMetSerSerGlnHisLeuPheLysLeuLeuAspCysLeuGlnGluSerHisSerPheSerLysAlaPheAsnSerAsnTyrGluGlnArgThrValLeuTrpArgAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysCysLeuArgIleLeuPheArgMetTyrValAspGluAsnArgArgAspSerTrpGluGluIleGlnGlnArgLeuLeuThrValCysSerGluAlaLeuAlaTyrPheIleThrValAsnSerGluSerHisArgGluAlaTrpThrSerLeuLeuLeuLeuLeuLeuThrLysThrLeuLysIleAsnAspGluLysPheLysAlaHisAlaSerMetTyrTyrProTyrLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgLysPhePheLeuArgIleGlyValValTyrLysIleTrpIleProGluGluProSerGlnValProAlaAlaLeuSerProValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371917.5:c.3169C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006420.3:c.3169C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360985.4:p.Gln1057Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006411.2:p.Gln1057Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}