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    "NM_000548.5(TSC2):c.4195_4259del (p.Gly1399ArgfsTer?)"
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      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
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      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
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        "hgvsWellDefined": "XP_016879107.1:p.[Gly969Arg;Asp973delinsArgGly;Ala975_Asp976delinsCysCysLeu;Arg979del;Ser981_Ala986delinsGlyArg;Ser988del;Thr992_Asp994delinsProAlaArg;Glu996del;Ala998Leu;Trp1000_Gly1009delinsPhe;Pro1011_Pro1014del;Ser1017_Ser1019del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4195_4259del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Gly1399ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Gly1399ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4237,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.4063_4127del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Gly1355ArgfsTer?",
        "hgvsWellDefined": "NP_001357333.1:p.[Gly1355Arg;Asp1359delinsArgGly;Ala1361_Asp1362delinsCysCysLeu;Arg1365del;Ser1367_Ala1372delinsGlyArg;Ser1374del;Thr1378_Asp1380delinsProAlaArg;Glu1382del;Ala1384Leu;Trp1386_Gly1395delinsPhe;Pro1397_Pro1400del;Ser1403_Ser1405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4240,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.4066_4130del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Gly1356ArgfsTer?",
        "hgvsWellDefined": "NP_001357334.1:p.[Gly1356Arg;Asp1360delinsArgGly;Ala1362_Asp1363delinsCysCysLeu;Arg1366del;Ser1368_Ala1373delinsGlyArg;Ser1375del;Thr1379_Asp1381delinsProAlaArg;Glu1383del;Ala1385Leu;Trp1387_Gly1396delinsPhe;Pro1398_Pro1401del;Ser1404_Ser1406del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4168,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3994_4058del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Gly1332ArgfsTer?",
        "hgvsWellDefined": "NP_001070651.1:p.[Gly1332Arg;Asp1336delinsArgGly;Ala1338_Asp1339delinsCysCysLeu;Arg1342del;Ser1344_Ala1349delinsGlyArg;Ser1351del;Thr1355_Asp1357delinsProAlaArg;Glu1359del;Ala1361Leu;Trp1363_Gly1372delinsPhe;Pro1374_Pro1377del;Ser1380_Ser1382del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4300,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4126_4190del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Gly1376ArgfsTer?",
        "hgvsWellDefined": "NP_001107854.1:p.[Gly1376Arg;Asp1380delinsArgGly;Ala1382_Asp1383delinsCysCysLeu;Arg1386del;Ser1388_Ala1393delinsGlyArg;Ser1395del;Thr1399_Asp1401delinsProAlaArg;Glu1403del;Ala1405Leu;Trp1407_Gly1416delinsPhe;Pro1418_Pro1421del;Ser1424_Ser1426del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4060,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3886_3950del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Gly1296ArgfsTer?",
        "hgvsWellDefined": "NP_001305756.1:p.[Gly1296Arg;Asp1300delinsArgGly;Ala1302_Asp1303delinsCysCysLeu;Arg1306del;Ser1308_Ala1313delinsGlyArg;Ser1315del;Thr1319_Asp1321delinsProAlaArg;Glu1323del;Ala1325Leu;Trp1327_Gly1336delinsPhe;Pro1338_Pro1341del;Ser1344_Ser1346del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4004,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3850_3914del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Gly1284ArgfsTer?",
        "hgvsWellDefined": "NP_001305758.1:p.[Gly1284Arg;Asp1288delinsArgGly;Ala1290_Asp1291delinsCysCysLeu;Arg1294del;Ser1296_Ala1301delinsGlyArg;Ser1303del;Thr1307_Asp1309delinsProAlaArg;Glu1311del;Ala1313Leu;Trp1315_Gly1324delinsPhe;Pro1326_Pro1329del;Ser1332_Ser1334del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3863,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3463_3527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Gly1155ArgfsTer?",
        "hgvsWellDefined": "NP_001305760.1:p.[Gly1155Arg;Asp1159delinsArgGly;Ala1161_Asp1162delinsCysCysLeu;Arg1165del;Ser1167_Ala1172delinsGlyArg;Ser1174del;Thr1178_Asp1180delinsProAlaArg;Glu1182del;Ala1184Leu;Trp1186_Gly1195delinsPhe;Pro1197_Pro1200del;Ser1203_Ser1205del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4159,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.4027_4091del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Gly1343ArgfsTer?",
        "hgvsWellDefined": "NP_001305761.1:p.[Gly1343Arg;Asp1347delinsArgGly;Ala1349_Asp1350delinsCysCysLeu;Arg1353del;Ser1355_Ala1360delinsGlyArg;Ser1362del;Thr1366_Asp1368delinsProAlaArg;Glu1370del;Ala1372Leu;Trp1374_Gly1383delinsPhe;Pro1385_Pro1388del;Ser1391_Ser1393del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4171,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3997_4061del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Gly1333ArgfsTer?",
        "hgvsWellDefined": "NP_001350457.1:p.[Gly1333Arg;Asp1337delinsArgGly;Ala1339_Asp1340delinsCysCysLeu;Arg1343del;Ser1345_Ala1350delinsGlyArg;Ser1352del;Thr1356_Asp1358delinsProAlaArg;Glu1360del;Ala1362Leu;Trp1364_Gly1373delinsPhe;Pro1375_Pro1378del;Ser1381_Ser1383del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4240,
          "referenceAllele": "GGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTC",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.4066_4130del"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Gly1356ArgfsTer?",
        "hgvsWellDefined": "NP_066399.2:p.[Gly1356Arg;Asp1360delinsArgGly;Ala1362_Asp1363delinsCysCysLeu;Arg1366del;Ser1368_Ala1373delinsGlyArg;Ser1375del;Thr1379_Asp1381delinsProAlaArg;Glu1383del;Ala1385Leu;Trp1387_Gly1396delinsPhe;Pro1398_Pro1401del;Ser1404_Ser1406del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}