{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3267547640",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4105_4225dup (p.Arg1409ProfsTer45)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 2084447,
          "referenceAllele": "",
          "start": 2084447
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084327_2084447dup",
        "CM000678.2:g.2084327_2084447dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 2134448,
          "referenceAllele": "",
          "start": 2134448
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134328_2134448dup",
        "CM000678.1:g.2134328_2134448dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 2074449,
          "referenceAllele": "",
          "start": 2074449
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074329_2074449dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 40142,
          "referenceAllele": "",
          "start": 40142
        }
      ],
      "hgvs": [
        "NG_005895.1:g.40022_40142dup",
        "LRG_487:g.40022_40142dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4056,
          "referenceAllele": "",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2454_*2574dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2454_*2574dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4188,
          "referenceAllele": "",
          "start": 4188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3952_4072dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Arg1358ProfsTer45",
        "hgvsWellDefined": "ENSP00000495146.2:p.[Arg1358delinsProAla;Ser1360delinsCysGly;Glu1362_Lys1364delinsLeuLeuPro;Arg1366_Glu1375delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1376_Ala1377insArg;Trp1379Asp;Ser1382delinsGlyHisProArg;Glu1384_Ser1386delinsProTrpGlyGlnGly;Arg1387_Gly1388insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4293,
          "referenceAllele": "",
          "start": 4293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4102_4222dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Arg1408ProfsTer45",
        "hgvsWellDefined": "ENSP00000495459.2:p.[Arg1408delinsProAla;Ser1410delinsCysGly;Glu1412_Lys1414delinsLeuLeuPro;Arg1416_Glu1425delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1426_Ala1427insArg;Trp1429Asp;Ser1432delinsGlyHisProArg;Glu1434_Ser1436delinsProTrpGlyGlnGly;Arg1437_Gly1438insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 5260,
          "referenceAllele": "",
          "start": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4485_*4605dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4485_*4605dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 7312,
          "referenceAllele": "",
          "start": 7312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6854_*6974dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6854_*6974dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4335,
          "referenceAllele": "",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4105_4225dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Arg1409ProfsTer45",
        "hgvsWellDefined": "ENSP00000219476.3:p.[Arg1409delinsProAla;Ser1411delinsCysGly;Glu1413_Lys1415delinsLeuLeuPro;Arg1417_Glu1426delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1427_Ala1428insArg;Trp1430Asp;Ser1433delinsGlyHisProArg;Glu1435_Ser1437delinsProTrpGlyGlnGly;Arg1438_Gly1439insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4105_4225dup"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4105_4225dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg1409ProfsTer45"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg1409ProfsTer45"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4231,
          "referenceAllele": "",
          "start": 4231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.4036_4156dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Arg1386ProfsTer45",
        "hgvsWellDefined": "ENSP00000344383.4:p.[Arg1386delinsProAla;Ser1388delinsCysGly;Glu1390_Lys1392delinsLeuLeuPro;Arg1394_Glu1403delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1404_Ala1405insArg;Trp1407Asp;Ser1410delinsGlyHisProArg;Glu1412_Ser1414delinsProTrpGlyGlnGly;Arg1415_Gly1416insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4130,
          "referenceAllele": "",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3904_4024dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Arg1342ProfsTer45",
        "hgvsWellDefined": "ENSP00000384468.2:p.[Arg1342delinsProAla;Ser1344delinsCysGly;Glu1346_Lys1348delinsLeuLeuPro;Arg1350_Glu1359delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1360_Ala1361insArg;Trp1363Asp;Ser1366delinsGlyHisProArg;Glu1368_Ser1370delinsProTrpGlyGlnGly;Arg1371_Gly1372insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4125,
          "referenceAllele": "",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3937_4057dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Arg1353ProfsTer45",
        "hgvsWellDefined": "ENSP00000454487.1:p.[Arg1353delinsProAla;Ser1355delinsCysGly;Glu1357_Lys1359delinsLeuLeuPro;Arg1361_Glu1370delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1371_Ala1372insArg;Trp1374Asp;Ser1377delinsGlyHisProArg;Glu1379_Ser1381delinsProTrpGlyGlnGly;Arg1382_Gly1383insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 461,
          "referenceAllele": "",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.341_461dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 2107,
          "referenceAllele": "",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1987_2107dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 2879,
          "referenceAllele": "",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2759_2879dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4148,
          "referenceAllele": "",
          "start": 4148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3976_4096dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Arg1366ProfsTer45",
        "hgvsWellDefined": "ENSP00000495099.1:p.[Arg1366delinsProAla;Ser1368delinsCysGly;Glu1370_Lys1372delinsLeuLeuPro;Arg1374_Glu1383delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1384_Ala1385insArg;Trp1387Asp;Ser1390delinsGlyHisProArg;Glu1392_Ser1394delinsProTrpGlyGlnGly;Arg1395_Gly1396insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 407,
          "referenceAllele": "",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.287_407dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4081,
          "referenceAllele": "",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3907_4027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Arg1343ProfsTer45",
        "hgvsWellDefined": "ENSP00000493846.1:p.[Arg1343delinsProAla;Ser1345delinsCysGly;Glu1347_Lys1349delinsLeuLeuPro;Arg1351_Glu1360delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1361_Ala1362insArg;Trp1364Asp;Ser1367delinsGlyHisProArg;Glu1369_Ser1371delinsProTrpGlyGlnGly;Arg1372_Gly1373insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4202,
          "referenceAllele": "",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3973_4093dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Arg1365ProfsTer45",
        "hgvsWellDefined": "ENSP00000494514.1:p.[Arg1365delinsProAla;Ser1367delinsCysGly;Glu1369_Lys1371delinsLeuLeuPro;Arg1373_Glu1382delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1383_Ala1384insArg;Trp1386Asp;Ser1389delinsGlyHisProArg;Glu1391_Ser1393delinsProTrpGlyGlnGly;Arg1394_Gly1395insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4142,
          "referenceAllele": "",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3904_4024dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Arg1342ProfsTer45",
        "hgvsWellDefined": "ENSP00000494747.1:p.[Arg1342delinsProAla;Ser1344delinsCysGly;Glu1346_Lys1348delinsLeuLeuPro;Arg1350_Glu1359delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1360_Ala1361insArg;Trp1363Asp;Ser1366delinsGlyHisProArg;Glu1368_Ser1370delinsProTrpGlyGlnGly;Arg1371_Gly1372insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 239,
          "referenceAllele": "",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.119_239dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 1873,
          "referenceAllele": "",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1753_1873dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4274,
          "referenceAllele": "",
          "start": 4274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.4036_4156dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Arg1386ProfsTer45",
        "hgvsWellDefined": "ENSP00000495927.1:p.[Arg1386delinsProAla;Ser1388delinsCysGly;Glu1390_Lys1392delinsLeuLeuPro;Arg1394_Glu1403delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1404_Ala1405insArg;Trp1407Asp;Ser1410delinsGlyHisProArg;Glu1412_Ser1414delinsProTrpGlyGlnGly;Arg1415_Gly1416insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4150,
          "referenceAllele": "",
          "start": 4150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3976_4096dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Arg1366ProfsTer45",
        "hgvsWellDefined": "ENSP00000496262.1:p.[Arg1366delinsProAla;Ser1368delinsCysGly;Glu1370_Lys1372delinsLeuLeuPro;Arg1374_Glu1383delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1384_Ala1385insArg;Trp1387Asp;Ser1390delinsGlyHisProArg;Glu1392_Ser1394delinsProTrpGlyGlnGly;Arg1395_Gly1396insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4086,
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          "start": 4086
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        {
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          "start": 468
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          "start": 4231
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        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
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          "start": 3975
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    {
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        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4130,
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          "start": 4130
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      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
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          "end": 3781,
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          "start": 3997
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      "gene": "http://reg.genome.network/gene/GN012363",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000399232.2:p.[Arg1306delinsProAla;Ser1308delinsCysGly;Glu1310_Lys1312delinsLeuLeuPro;Arg1314_Glu1323delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1324_Ala1325insArg;Trp1327Asp;Ser1330delinsGlyHisProArg;Glu1332_Ser1334delinsProTrpGlyGlnGly;Arg1335_Gly1336insArgGlyProAlaGluPro]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
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    {
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        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 1983,
          "referenceAllele": "",
          "start": 1983
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          "end": 4125,
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          "start": 4125
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      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
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    {
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        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 407,
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          "start": 407
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          "start": 1340
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        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4331,
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          "start": 4331
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      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
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    {
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        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4262,
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          "start": 4262
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      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
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    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4183,
          "referenceAllele": "",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005255586.2:p.[Arg1366delinsProAla;Ser1368delinsCysGly;Glu1370_Lys1372delinsLeuLeuPro;Arg1374_Glu1383delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1384_Ala1385insArg;Trp1387Asp;Ser1390delinsGlyHisProArg;Glu1392_Ser1394delinsProTrpGlyGlnGly;Arg1395_Gly1396insArgGlyProAlaGluPro]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4114,
          "referenceAllele": "",
          "start": 4114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005255588.2:p.[Arg1343delinsProAla;Ser1345delinsCysGly;Glu1347_Lys1349delinsLeuLeuPro;Arg1351_Glu1360delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1361_Ala1362insArg;Trp1364Asp;Ser1367delinsGlyHisProArg;Glu1369_Ser1371delinsProTrpGlyGlnGly;Arg1372_Gly1373insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4366,
          "referenceAllele": "",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4159_4279dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Arg1427ProfsTer45",
        "hgvsWellDefined": "XP_011520938.1:p.[Arg1427delinsProAla;Ser1429delinsCysGly;Glu1431_Lys1433delinsLeuLeuPro;Arg1435_Glu1444delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1445_Ala1446insArg;Trp1448Asp;Ser1451delinsGlyHisProArg;Glu1453_Ser1455delinsProTrpGlyGlnGly;Arg1456_Gly1457insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4363,
          "referenceAllele": "",
          "start": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4156_4276dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Arg1426ProfsTer45",
        "hgvsWellDefined": "XP_011520939.1:p.[Arg1426delinsProAla;Ser1428delinsCysGly;Glu1430_Lys1432delinsLeuLeuPro;Arg1434_Glu1443delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1444_Ala1445insArg;Trp1447Asp;Ser1450delinsGlyHisProArg;Glu1452_Ser1454delinsProTrpGlyGlnGly;Arg1455_Gly1456insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4327,
          "referenceAllele": "",
          "start": 4327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.4048_4168dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Arg1390ProfsTer45",
        "hgvsWellDefined": "XP_011520940.1:p.[Arg1390delinsProAla;Ser1392delinsCysGly;Glu1394_Lys1396delinsLeuLeuPro;Arg1398_Glu1407delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1408_Ala1409insArg;Trp1411Asp;Ser1414delinsGlyHisProArg;Glu1416_Ser1418delinsProTrpGlyGlnGly;Arg1419_Gly1420insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4237,
          "referenceAllele": "",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.4030_4150dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Arg1384ProfsTer45",
        "hgvsWellDefined": "XP_011520941.1:p.[Arg1384delinsProAla;Ser1386delinsCysGly;Glu1388_Lys1390delinsLeuLeuPro;Arg1392_Glu1401delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1402_Ala1403insArg;Trp1405Asp;Ser1408delinsGlyHisProArg;Glu1410_Ser1412delinsProTrpGlyGlnGly;Arg1413_Gly1414insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4234,
          "referenceAllele": "",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.4027_4147dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Arg1383ProfsTer45",
        "hgvsWellDefined": "XP_011520942.1:p.[Arg1383delinsProAla;Ser1385delinsCysGly;Glu1387_Lys1389delinsLeuLeuPro;Arg1391_Glu1400delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1401_Ala1402insArg;Trp1404Asp;Ser1407delinsGlyHisProArg;Glu1409_Ser1411delinsProTrpGlyGlnGly;Arg1412_Gly1413insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4075,
          "referenceAllele": "",
          "start": 4075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3796_3916dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Arg1306ProfsTer45",
        "hgvsWellDefined": "XP_011520943.1:p.[Arg1306delinsProAla;Ser1308delinsCysGly;Glu1310_Lys1312delinsLeuLeuPro;Arg1314_Glu1323delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1324_Ala1325insArg;Trp1327Asp;Ser1330delinsGlyHisProArg;Glu1332_Ser1334delinsProTrpGlyGlnGly;Arg1335_Gly1336insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4425,
          "referenceAllele": "",
          "start": 4425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4105_4225dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg1409ProfsTer45",
        "hgvsWellDefined": "NP_000539.2:p.[Arg1409delinsProAla;Ser1411delinsCysGly;Glu1413_Lys1415delinsLeuLeuPro;Arg1417_Glu1426delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1427_Ala1428insArg;Trp1430Asp;Ser1433delinsGlyHisProArg;Glu1435_Ser1437delinsProTrpGlyGlnGly;Arg1438_Gly1439insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4224,
          "referenceAllele": "",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3904_4024dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg1342ProfsTer45",
        "hgvsWellDefined": "NP_001070651.1:p.[Arg1342delinsProAla;Ser1344delinsCysGly;Glu1346_Lys1348delinsLeuLeuPro;Arg1350_Glu1359delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1360_Ala1361insArg;Trp1363Asp;Ser1366delinsGlyHisProArg;Glu1368_Ser1370delinsProTrpGlyGlnGly;Arg1371_Gly1372insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4356,
          "referenceAllele": "",
          "start": 4356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.4036_4156dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg1386ProfsTer45",
        "hgvsWellDefined": "NP_001107854.1:p.[Arg1386delinsProAla;Ser1388delinsCysGly;Glu1390_Lys1392delinsLeuLeuPro;Arg1394_Glu1403delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1404_Ala1405insArg;Trp1407Asp;Ser1410delinsGlyHisProArg;Glu1412_Ser1414delinsProTrpGlyGlnGly;Arg1415_Gly1416insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4116,
          "referenceAllele": "",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3796_3916dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg1306ProfsTer45",
        "hgvsWellDefined": "NP_001305756.1:p.[Arg1306delinsProAla;Ser1308delinsCysGly;Glu1310_Lys1312delinsLeuLeuPro;Arg1314_Glu1323delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1324_Ala1325insArg;Trp1327Asp;Ser1330delinsGlyHisProArg;Glu1332_Ser1334delinsProTrpGlyGlnGly;Arg1335_Gly1336insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4060,
          "referenceAllele": "",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3760_3880dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg1294ProfsTer45",
        "hgvsWellDefined": "NP_001305758.1:p.[Arg1294delinsProAla;Ser1296delinsCysGly;Glu1298_Lys1300delinsLeuLeuPro;Arg1302_Glu1311delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1312_Ala1313insArg;Trp1315Asp;Ser1318delinsGlyHisProArg;Glu1320_Ser1322delinsProTrpGlyGlnGly;Arg1323_Gly1324insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 3919,
          "referenceAllele": "",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3373_3493dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg1165ProfsTer45",
        "hgvsWellDefined": "NP_001305760.1:p.[Arg1165delinsProAla;Ser1167delinsCysGly;Glu1169_Lys1171delinsLeuLeuPro;Arg1173_Glu1182delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1183_Ala1184insArg;Trp1186Asp;Ser1189delinsGlyHisProArg;Glu1191_Ser1193delinsProTrpGlyGlnGly;Arg1194_Gly1195insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4125,
          "referenceAllele": "",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3937_4057dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg1353ProfsTer45",
        "hgvsWellDefined": "NP_001305761.1:p.[Arg1353delinsProAla;Ser1355delinsCysGly;Glu1357_Lys1359delinsLeuLeuPro;Arg1361_Glu1370delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1371_Ala1372insArg;Trp1374Asp;Ser1377delinsGlyHisProArg;Glu1379_Ser1381delinsProTrpGlyGlnGly;Arg1382_Gly1383insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4227,
          "referenceAllele": "",
          "start": 4227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3907_4027dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg1343ProfsTer45",
        "hgvsWellDefined": "NP_001350457.1:p.[Arg1343delinsProAla;Ser1345delinsCysGly;Glu1347_Lys1349delinsLeuLeuPro;Arg1351_Glu1360delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1361_Ala1362insArg;Trp1364Asp;Ser1367delinsGlyHisProArg;Glu1369_Ser1371delinsProTrpGlyGlnGly;Arg1372_Gly1373insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4206,
          "referenceAllele": "",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3976_4096dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg1366ProfsTer45",
        "hgvsWellDefined": "NP_066399.2:p.[Arg1366delinsProAla;Ser1368delinsCysGly;Glu1370_Lys1372delinsLeuLeuPro;Arg1374_Glu1383delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1384_Ala1385insArg;Trp1387Asp;Ser1390delinsGlyHisProArg;Glu1392_Ser1394delinsProTrpGlyGlnGly;Arg1395_Gly1396insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4114,
          "referenceAllele": "",
          "start": 4114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3907_4027dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Arg1343ProfsTer45",
        "hgvsWellDefined": "XP_005255588.2:p.[Arg1343delinsProAla;Ser1345delinsCysGly;Glu1347_Lys1349delinsLeuLeuPro;Arg1351_Glu1360delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1361_Ala1362insArg;Trp1364Asp;Ser1367delinsGlyHisProArg;Glu1369_Ser1371delinsProTrpGlyGlnGly;Arg1372_Gly1373insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4366,
          "referenceAllele": "",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4159_4279dup"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011520938.1:p.[Arg1427delinsProAla;Ser1429delinsCysGly;Glu1431_Lys1433delinsLeuLeuPro;Arg1435_Glu1444delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1445_Ala1446insArg;Trp1448Asp;Ser1451delinsGlyHisProArg;Glu1453_Ser1455delinsProTrpGlyGlnGly;Arg1456_Gly1457insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4363,
          "referenceAllele": "",
          "start": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4156_4276dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Arg1426ProfsTer45",
        "hgvsWellDefined": "XP_011520939.1:p.[Arg1426delinsProAla;Ser1428delinsCysGly;Glu1430_Lys1432delinsLeuLeuPro;Arg1434_Glu1443delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1444_Ala1445insArg;Trp1447Asp;Ser1450delinsGlyHisProArg;Glu1452_Ser1454delinsProTrpGlyGlnGly;Arg1455_Gly1456insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4459,
          "referenceAllele": "",
          "start": 4459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4321_4441dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Arg1481ProfsTer45",
        "hgvsWellDefined": "XP_011520940.2:p.[Arg1481delinsProAla;Ser1483delinsCysGly;Glu1485_Lys1487delinsLeuLeuPro;Arg1489_Glu1498delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1499_Ala1500insArg;Trp1502Asp;Ser1505delinsGlyHisProArg;Glu1507_Ser1509delinsProTrpGlyGlnGly;Arg1510_Gly1511insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4237,
          "referenceAllele": "",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.4030_4150dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Arg1384ProfsTer45",
        "hgvsWellDefined": "XP_011520941.1:p.[Arg1384delinsProAla;Ser1386delinsCysGly;Glu1388_Lys1390delinsLeuLeuPro;Arg1392_Glu1401delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1402_Ala1403insArg;Trp1405Asp;Ser1408delinsGlyHisProArg;Glu1410_Ser1412delinsProTrpGlyGlnGly;Arg1413_Gly1414insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4234,
          "referenceAllele": "",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.4027_4147dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Arg1383ProfsTer45",
        "hgvsWellDefined": "XP_011520942.1:p.[Arg1383delinsProAla;Ser1385delinsCysGly;Glu1387_Lys1389delinsLeuLeuPro;Arg1391_Glu1400delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1401_Ala1402insArg;Trp1404Asp;Ser1407delinsGlyHisProArg;Glu1409_Ser1411delinsProTrpGlyGlnGly;Arg1412_Gly1413insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4309,
          "referenceAllele": "",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4102_4222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Arg1408ProfsTer45",
        "hgvsWellDefined": "XP_016879104.1:p.[Arg1408delinsProAla;Ser1410delinsCysGly;Glu1412_Lys1414delinsLeuLeuPro;Arg1416_Glu1425delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1426_Ala1427insArg;Trp1429Asp;Ser1432delinsGlyHisProArg;Glu1434_Ser1436delinsProTrpGlyGlnGly;Arg1437_Gly1438insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4180,
          "referenceAllele": "",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3973_4093dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Arg1365ProfsTer45",
        "hgvsWellDefined": "XP_016879105.1:p.[Arg1365delinsProAla;Ser1367delinsCysGly;Glu1369_Lys1371delinsLeuLeuPro;Arg1373_Glu1382delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1383_Ala1384insArg;Trp1386Asp;Ser1389delinsGlyHisProArg;Glu1391_Ser1393delinsProTrpGlyGlnGly;Arg1394_Gly1395insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4207,
          "referenceAllele": "",
          "start": 4207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4069_4189dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Arg1397ProfsTer45",
        "hgvsWellDefined": "XP_016879106.1:p.[Arg1397delinsProAla;Ser1399delinsCysGly;Glu1401_Lys1403delinsLeuLeuPro;Arg1405_Glu1414delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1415_Ala1416insArg;Trp1418Asp;Ser1421delinsGlyHisProArg;Glu1423_Ser1425delinsProTrpGlyGlnGly;Arg1426_Gly1427insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4453,
          "referenceAllele": "",
          "start": 4453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2815_2935dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Arg979ProfsTer45",
        "hgvsWellDefined": "XP_016879107.1:p.[Arg979delinsProAla;Ser981delinsCysGly;Glu983_Lys985delinsLeuLeuPro;Arg987_Glu996delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser997_Ala998insArg;Trp1000Asp;Ser1003delinsGlyHisProArg;Glu1005_Ser1007delinsProTrpGlyGlnGly;Arg1008_Gly1009insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4111,
          "referenceAllele": "",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3904_4024dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Arg1342ProfsTer45",
        "hgvsWellDefined": "XP_024306181.1:p.[Arg1342delinsProAla;Ser1344delinsCysGly;Glu1346_Lys1348delinsLeuLeuPro;Arg1350_Glu1359delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1360_Ala1361insArg;Trp1363Asp;Ser1366delinsGlyHisProArg;Glu1368_Ser1370delinsProTrpGlyGlnGly;Arg1371_Gly1372insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4335,
          "referenceAllele": "",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4105_4225dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg1409ProfsTer45",
        "hgvsWellDefined": "NP_000539.2:p.[Arg1409delinsProAla;Ser1411delinsCysGly;Glu1413_Lys1415delinsLeuLeuPro;Arg1417_Glu1426delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1427_Ala1428insArg;Trp1430Asp;Ser1433delinsGlyHisProArg;Glu1435_Ser1437delinsProTrpGlyGlnGly;Arg1438_Gly1439insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4105_4225dup"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4105_4225dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg1409ProfsTer45"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg1409ProfsTer45"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4203,
          "referenceAllele": "",
          "start": 4203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3973_4093dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Arg1365ProfsTer45",
        "hgvsWellDefined": "NP_001357333.1:p.[Arg1365delinsProAla;Ser1367delinsCysGly;Glu1369_Lys1371delinsLeuLeuPro;Arg1373_Glu1382delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1383_Ala1384insArg;Trp1386Asp;Ser1389delinsGlyHisProArg;Glu1391_Ser1393delinsProTrpGlyGlnGly;Arg1394_Gly1395insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4206,
          "referenceAllele": "",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3976_4096dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Arg1366ProfsTer45",
        "hgvsWellDefined": "NP_001357334.1:p.[Arg1366delinsProAla;Ser1368delinsCysGly;Glu1370_Lys1372delinsLeuLeuPro;Arg1374_Glu1383delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1384_Ala1385insArg;Trp1387Asp;Ser1390delinsGlyHisProArg;Glu1392_Ser1394delinsProTrpGlyGlnGly;Arg1395_Gly1396insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4134,
          "referenceAllele": "",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3904_4024dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg1342ProfsTer45",
        "hgvsWellDefined": "NP_001070651.1:p.[Arg1342delinsProAla;Ser1344delinsCysGly;Glu1346_Lys1348delinsLeuLeuPro;Arg1350_Glu1359delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1360_Ala1361insArg;Trp1363Asp;Ser1366delinsGlyHisProArg;Glu1368_Ser1370delinsProTrpGlyGlnGly;Arg1371_Gly1372insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4266,
          "referenceAllele": "",
          "start": 4266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.4036_4156dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg1386ProfsTer45",
        "hgvsWellDefined": "NP_001107854.1:p.[Arg1386delinsProAla;Ser1388delinsCysGly;Glu1390_Lys1392delinsLeuLeuPro;Arg1394_Glu1403delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1404_Ala1405insArg;Trp1407Asp;Ser1410delinsGlyHisProArg;Glu1412_Ser1414delinsProTrpGlyGlnGly;Arg1415_Gly1416insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4026,
          "referenceAllele": "",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3796_3916dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg1306ProfsTer45",
        "hgvsWellDefined": "NP_001305756.1:p.[Arg1306delinsProAla;Ser1308delinsCysGly;Glu1310_Lys1312delinsLeuLeuPro;Arg1314_Glu1323delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1324_Ala1325insArg;Trp1327Asp;Ser1330delinsGlyHisProArg;Glu1332_Ser1334delinsProTrpGlyGlnGly;Arg1335_Gly1336insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 3970,
          "referenceAllele": "",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3760_3880dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg1294ProfsTer45",
        "hgvsWellDefined": "NP_001305758.1:p.[Arg1294delinsProAla;Ser1296delinsCysGly;Glu1298_Lys1300delinsLeuLeuPro;Arg1302_Glu1311delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1312_Ala1313insArg;Trp1315Asp;Ser1318delinsGlyHisProArg;Glu1320_Ser1322delinsProTrpGlyGlnGly;Arg1323_Gly1324insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 3829,
          "referenceAllele": "",
          "start": 3829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3373_3493dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg1165ProfsTer45",
        "hgvsWellDefined": "NP_001305760.1:p.[Arg1165delinsProAla;Ser1167delinsCysGly;Glu1169_Lys1171delinsLeuLeuPro;Arg1173_Glu1182delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1183_Ala1184insArg;Trp1186Asp;Ser1189delinsGlyHisProArg;Glu1191_Ser1193delinsProTrpGlyGlnGly;Arg1194_Gly1195insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4125,
          "referenceAllele": "",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3937_4057dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg1353ProfsTer45",
        "hgvsWellDefined": "NP_001305761.1:p.[Arg1353delinsProAla;Ser1355delinsCysGly;Glu1357_Lys1359delinsLeuLeuPro;Arg1361_Glu1370delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1371_Ala1372insArg;Trp1374Asp;Ser1377delinsGlyHisProArg;Glu1379_Ser1381delinsProTrpGlyGlnGly;Arg1382_Gly1383insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4137,
          "referenceAllele": "",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3907_4027dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg1343ProfsTer45",
        "hgvsWellDefined": "NP_001350457.1:p.[Arg1343delinsProAla;Ser1345delinsCysGly;Glu1347_Lys1349delinsLeuLeuPro;Arg1351_Glu1360delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1361_Ala1362insArg;Trp1364Asp;Ser1367delinsGlyHisProArg;Glu1369_Ser1371delinsProTrpGlyGlnGly;Arg1372_Gly1373insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "CGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCC",
          "end": 4206,
          "referenceAllele": "",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3976_4096dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg1366ProfsTer45",
        "hgvsWellDefined": "NP_066399.2:p.[Arg1366delinsProAla;Ser1368delinsCysGly;Glu1370_Lys1372delinsLeuLeuPro;Arg1374_Glu1383delinsLeuAlaAlaProGluGlnValGlnLeuLeu;Ser1384_Ala1385insArg;Trp1387Asp;Ser1390delinsGlyHisProArg;Glu1392_Ser1394delinsProTrpGlyGlnGly;Arg1395_Gly1396insArgGlyProAlaGluPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}