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Items: 1 to 20 of 865

1.

rs1486986367 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:90889948 (GRCh38)
    15:91433178 (GRCh37)
    Canonical SPDI:
    NC_000015.10:90889947:C:T
    Gene:
    FES (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000015.10:g.90889948C>T, NC_000015.9:g.91433178C>T, NG_029671.1:g.10491C>T, NM_002005.4:c.1035C>T, NM_002005.3:c.1035C>T, NM_001143785.2:c.861C>T, NM_001143785.1:c.861C>T, NM_001143783.1:c.861C>T, NM_001143784.1:c.1035C>T, XM_017022009.3:c.1035C>T, XM_017022009.2:c.1035C>T, XM_017022009.1:c.1035C>T, XM_005254882.3:c.1035C>T, XM_005254882.2:c.1035C>T, XM_005254882.1:c.1035C>T, XM_017022005.2:c.1035C>T, XM_017022005.1:c.1035C>T, XM_017022010.2:c.861C>T, XM_017022010.1:c.861C>T, XM_005254880.2:c.861C>T, XM_005254880.1:c.861C>T, XM_017022006.2:c.861C>T, XM_017022006.1:c.861C>T, XM_017022007.2:c.1035C>T, XM_017022007.1:c.1035C>T, XM_017022008.2:c.861C>T, XM_017022008.1:c.861C>T, XM_047432233.1:c.1035C>T, XM_047432234.1:c.861C>T, XM_047432235.1:c.1035C>T, XM_047432237.1:c.861C>T, XM_047432239.1:c.1035C>T, XM_047432236.1:c.1035C>T, XM_047432238.1:c.1035C>T

    2.

    rs1485085596 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      15:90889878 (GRCh38)
      15:91433108 (GRCh37)
      Canonical SPDI:
      NC_000015.10:90889877:A:C
      Gene:
      FES (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000015/4 (TOPMED)
      HGVS:
      NC_000015.10:g.90889878A>C, NC_000015.9:g.91433108A>C, NG_029671.1:g.10421A>C, NM_002005.4:c.965A>C, NM_002005.3:c.965A>C, NM_001143785.2:c.791A>C, NM_001143785.1:c.791A>C, NM_001143783.1:c.791A>C, NM_001143784.1:c.965A>C, XM_017022009.3:c.965A>C, XM_017022009.2:c.965A>C, XM_017022009.1:c.965A>C, XM_005254882.3:c.965A>C, XM_005254882.2:c.965A>C, XM_005254882.1:c.965A>C, XM_017022005.2:c.965A>C, XM_017022005.1:c.965A>C, XM_017022010.2:c.791A>C, XM_017022010.1:c.791A>C, XM_005254880.2:c.791A>C, XM_005254880.1:c.791A>C, XM_017022006.2:c.791A>C, XM_017022006.1:c.791A>C, XM_017022007.2:c.965A>C, XM_017022007.1:c.965A>C, XM_017022008.2:c.791A>C, XM_017022008.1:c.791A>C, XM_047432233.1:c.965A>C, XM_047432234.1:c.791A>C, XM_047432235.1:c.965A>C, XM_047432237.1:c.791A>C, XM_047432239.1:c.965A>C, XM_047432236.1:c.965A>C, XM_047432238.1:c.965A>C, NP_001996.1:p.Glu322Ala, NP_001137257.1:p.Glu264Ala, NP_001137255.1:p.Glu264Ala, NP_001137256.1:p.Glu322Ala, XP_016877498.1:p.Glu322Ala, XP_005254939.1:p.Glu322Ala, XP_016877494.1:p.Glu322Ala, XP_016877499.1:p.Glu264Ala, XP_005254937.1:p.Glu264Ala, XP_016877495.1:p.Glu264Ala, XP_016877496.1:p.Glu322Ala, XP_016877497.1:p.Glu264Ala, XP_047288189.1:p.Glu322Ala, XP_047288190.1:p.Glu264Ala, XP_047288191.1:p.Glu322Ala, XP_047288193.1:p.Glu264Ala, XP_047288195.1:p.Glu322Ala, XP_047288192.1:p.Glu322Ala, XP_047288194.1:p.Glu322Ala

      3.

      rs1484093498 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        15:90893110 (GRCh38)
        15:91436340 (GRCh37)
        Canonical SPDI:
        NC_000015.10:90893109:C:A
        Gene:
        FES (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        HGVS:
        NC_000015.10:g.90893110C>A, NC_000015.9:g.91436340C>A, NG_029671.1:g.13653C>A, NM_002005.4:c.1837C>A, NM_002005.3:c.1837C>A, NM_001143785.2:c.1453C>A, NM_001143785.1:c.1453C>A, NM_001143783.1:c.1663C>A, NM_001143784.1:c.1627C>A, XM_017022009.3:c.1837C>A, XM_017022009.2:c.1837C>A, XM_017022009.1:c.1837C>A, XM_005254882.3:c.1627C>A, XM_005254882.2:c.1627C>A, XM_005254882.1:c.1627C>A, XM_017022005.2:c.1837C>A, XM_017022005.1:c.1837C>A, XM_017022010.2:c.1663C>A, XM_017022010.1:c.1663C>A, XM_005254880.2:c.1663C>A, XM_005254880.1:c.1663C>A, XM_017022006.2:c.1663C>A, XM_017022006.1:c.1663C>A, XM_017022007.2:c.1627C>A, XM_017022007.1:c.1627C>A, XM_017022008.2:c.1453C>A, XM_017022008.1:c.1453C>A, XM_047432233.1:c.1837C>A, XM_047432234.1:c.1663C>A, XM_047432235.1:c.1627C>A, XM_047432237.1:c.1453C>A, NP_001996.1:p.Gln613Lys, NP_001137257.1:p.Gln485Lys, NP_001137255.1:p.Gln555Lys, NP_001137256.1:p.Gln543Lys, XP_016877498.1:p.Gln613Lys, XP_005254939.1:p.Gln543Lys, XP_016877494.1:p.Gln613Lys, XP_016877499.1:p.Gln555Lys, XP_005254937.1:p.Gln555Lys, XP_016877495.1:p.Gln555Lys, XP_016877496.1:p.Gln543Lys, XP_016877497.1:p.Gln485Lys, XP_047288189.1:p.Gln613Lys, XP_047288190.1:p.Gln555Lys, XP_047288191.1:p.Gln543Lys, XP_047288193.1:p.Gln485Lys

        4.

        rs1483866755 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          15:90885201 (GRCh38)
          15:91428431 (GRCh37)
          Canonical SPDI:
          NC_000015.10:90885200:C:A
          Gene:
          FES (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000015.10:g.90885201C>A, NC_000015.9:g.91428431C>A, NG_029671.1:g.5744C>A, NM_002005.4:c.156C>A, NM_002005.3:c.156C>A, NM_001143785.2:c.156C>A, NM_001143785.1:c.156C>A, NM_001143783.1:c.156C>A, NM_001143784.1:c.156C>A, XM_017022009.3:c.156C>A, XM_017022009.2:c.156C>A, XM_017022009.1:c.156C>A, XM_005254882.3:c.156C>A, XM_005254882.2:c.156C>A, XM_005254882.1:c.156C>A, XM_017022005.2:c.156C>A, XM_017022005.1:c.156C>A, XM_017022010.2:c.156C>A, XM_017022010.1:c.156C>A, XM_005254880.2:c.156C>A, XM_005254880.1:c.156C>A, XM_017022006.2:c.156C>A, XM_017022006.1:c.156C>A, XM_017022007.2:c.156C>A, XM_017022007.1:c.156C>A, XM_017022008.2:c.156C>A, XM_017022008.1:c.156C>A, XM_047432233.1:c.156C>A, XM_047432234.1:c.156C>A, XM_047432235.1:c.156C>A, XM_047432237.1:c.156C>A, XM_047432239.1:c.156C>A, XM_047432236.1:c.156C>A, XM_047432238.1:c.156C>A

          5.

          rs1482509771 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            15:90893307 (GRCh38)
            15:91436537 (GRCh37)
            Canonical SPDI:
            NC_000015.10:90893306:C:A
            Gene:
            FES (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1480068969 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              15:90890159 (GRCh38)
              15:91433389 (GRCh37)
              Canonical SPDI:
              NC_000015.10:90890158:A:T
              Gene:
              FES (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.90890159A>T, NC_000015.9:g.91433389A>T, NG_029671.1:g.10702A>T, NM_002005.4:c.1117A>T, NM_002005.3:c.1117A>T, NM_001143785.2:c.943A>T, NM_001143785.1:c.943A>T, NM_001143783.1:c.943A>T, NM_001143784.1:c.1117A>T, XM_017022009.3:c.1117A>T, XM_017022009.2:c.1117A>T, XM_017022009.1:c.1117A>T, XM_005254882.3:c.1117A>T, XM_005254882.2:c.1117A>T, XM_005254882.1:c.1117A>T, XM_017022005.2:c.1117A>T, XM_017022005.1:c.1117A>T, XM_017022010.2:c.943A>T, XM_017022010.1:c.943A>T, XM_005254880.2:c.943A>T, XM_005254880.1:c.943A>T, XM_017022006.2:c.943A>T, XM_017022006.1:c.943A>T, XM_017022007.2:c.1117A>T, XM_017022007.1:c.1117A>T, XM_017022008.2:c.943A>T, XM_017022008.1:c.943A>T, XM_047432233.1:c.1117A>T, XM_047432234.1:c.943A>T, XM_047432235.1:c.1117A>T, XM_047432237.1:c.943A>T, XM_047432239.1:c.1117A>T, XM_047432236.1:c.1117A>T, XM_047432238.1:c.1117A>T, NP_001996.1:p.Ser373Cys, NP_001137257.1:p.Ser315Cys, NP_001137255.1:p.Ser315Cys, NP_001137256.1:p.Ser373Cys, XP_016877498.1:p.Ser373Cys, XP_005254939.1:p.Ser373Cys, XP_016877494.1:p.Ser373Cys, XP_016877499.1:p.Ser315Cys, XP_005254937.1:p.Ser315Cys, XP_016877495.1:p.Ser315Cys, XP_016877496.1:p.Ser373Cys, XP_016877497.1:p.Ser315Cys, XP_047288189.1:p.Ser373Cys, XP_047288190.1:p.Ser315Cys, XP_047288191.1:p.Ser373Cys, XP_047288193.1:p.Ser315Cys, XP_047288195.1:p.Ser373Cys, XP_047288192.1:p.Ser373Cys, XP_047288194.1:p.Ser373Cys

              7.

              rs1479994208 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                15:90887000 (GRCh38)
                15:91430230 (GRCh37)
                Canonical SPDI:
                NC_000015.10:90886999:C:G,NC_000015.10:90886999:C:T
                Gene:
                FES (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000015.10:g.90887000C>G, NC_000015.10:g.90887000C>T, NC_000015.9:g.91430230C>G, NC_000015.9:g.91430230C>T, NG_029671.1:g.7543C>G, NG_029671.1:g.7543C>T, NM_002005.4:c.427C>G, NM_002005.4:c.427C>T, NM_002005.3:c.427C>G, NM_002005.3:c.427C>T, NM_001143785.2:c.253C>G, NM_001143785.2:c.253C>T, NM_001143785.1:c.253C>G, NM_001143785.1:c.253C>T, NM_001143783.1:c.253C>G, NM_001143783.1:c.253C>T, NM_001143784.1:c.427C>G, NM_001143784.1:c.427C>T, XM_017022009.3:c.427C>G, XM_017022009.3:c.427C>T, XM_017022009.2:c.427C>G, XM_017022009.2:c.427C>T, XM_017022009.1:c.427C>G, XM_017022009.1:c.427C>T, XM_005254882.3:c.427C>G, XM_005254882.3:c.427C>T, XM_005254882.2:c.427C>G, XM_005254882.2:c.427C>T, XM_005254882.1:c.427C>G, XM_005254882.1:c.427C>T, XM_017022005.2:c.427C>G, XM_017022005.2:c.427C>T, XM_017022005.1:c.427C>G, XM_017022005.1:c.427C>T, XM_017022010.2:c.253C>G, XM_017022010.2:c.253C>T, XM_017022010.1:c.253C>G, XM_017022010.1:c.253C>T, XM_005254880.2:c.253C>G, XM_005254880.2:c.253C>T, XM_005254880.1:c.253C>G, XM_005254880.1:c.253C>T, XM_017022006.2:c.253C>G, XM_017022006.2:c.253C>T, XM_017022006.1:c.253C>G, XM_017022006.1:c.253C>T, XM_017022007.2:c.427C>G, XM_017022007.2:c.427C>T, XM_017022007.1:c.427C>G, XM_017022007.1:c.427C>T, XM_017022008.2:c.253C>G, XM_017022008.2:c.253C>T, XM_017022008.1:c.253C>G, XM_017022008.1:c.253C>T, XM_047432233.1:c.427C>G, XM_047432233.1:c.427C>T, XM_047432234.1:c.253C>G, XM_047432234.1:c.253C>T, XM_047432235.1:c.427C>G, XM_047432235.1:c.427C>T, XM_047432237.1:c.253C>G, XM_047432237.1:c.253C>T, XM_047432239.1:c.427C>G, XM_047432239.1:c.427C>T, XM_047432236.1:c.427C>G, XM_047432236.1:c.427C>T, XM_047432238.1:c.427C>G, XM_047432238.1:c.427C>T, NP_001996.1:p.Arg143Gly, NP_001996.1:p.Arg143Ter, NP_001137257.1:p.Arg85Gly, NP_001137257.1:p.Arg85Ter, NP_001137255.1:p.Arg85Gly, NP_001137255.1:p.Arg85Ter, NP_001137256.1:p.Arg143Gly, NP_001137256.1:p.Arg143Ter, XP_016877498.1:p.Arg143Gly, XP_016877498.1:p.Arg143Ter, XP_005254939.1:p.Arg143Gly, XP_005254939.1:p.Arg143Ter, XP_016877494.1:p.Arg143Gly, XP_016877494.1:p.Arg143Ter, XP_016877499.1:p.Arg85Gly, XP_016877499.1:p.Arg85Ter, XP_005254937.1:p.Arg85Gly, XP_005254937.1:p.Arg85Ter, XP_016877495.1:p.Arg85Gly, XP_016877495.1:p.Arg85Ter, XP_016877496.1:p.Arg143Gly, XP_016877496.1:p.Arg143Ter, XP_016877497.1:p.Arg85Gly, XP_016877497.1:p.Arg85Ter, XP_047288189.1:p.Arg143Gly, XP_047288189.1:p.Arg143Ter, XP_047288190.1:p.Arg85Gly, XP_047288190.1:p.Arg85Ter, XP_047288191.1:p.Arg143Gly, XP_047288191.1:p.Arg143Ter, XP_047288193.1:p.Arg85Gly, XP_047288193.1:p.Arg85Ter, XP_047288195.1:p.Arg143Gly, XP_047288195.1:p.Arg143Ter, XP_047288192.1:p.Arg143Gly, XP_047288192.1:p.Arg143Ter, XP_047288194.1:p.Arg143Gly, XP_047288194.1:p.Arg143Ter

                8.

                rs1478357798 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  15:90890437 (GRCh38)
                  15:91433667 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:90890436:G:C
                  Gene:
                  FES (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000015/4 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000015.10:g.90890437G>C, NC_000015.9:g.91433667G>C, NG_029671.1:g.10980G>C, NM_002005.4:c.1273G>C, NM_002005.3:c.1273G>C, NM_001143785.2:c.1099G>C, NM_001143785.1:c.1099G>C, NM_001143783.1:c.1099G>C, NM_001143784.1:c.1273G>C, XM_017022009.3:c.1273G>C, XM_017022009.2:c.1273G>C, XM_017022009.1:c.1273G>C, XM_005254882.3:c.1273G>C, XM_005254882.2:c.1273G>C, XM_005254882.1:c.1273G>C, XM_017022005.2:c.1273G>C, XM_017022005.1:c.1273G>C, XM_017022010.2:c.1099G>C, XM_017022010.1:c.1099G>C, XM_005254880.2:c.1099G>C, XM_005254880.1:c.1099G>C, XM_017022006.2:c.1099G>C, XM_017022006.1:c.1099G>C, XM_017022007.2:c.1273G>C, XM_017022007.1:c.1273G>C, XM_017022008.2:c.1099G>C, XM_017022008.1:c.1099G>C, XM_047432233.1:c.1273G>C, XM_047432234.1:c.1099G>C, XM_047432235.1:c.1273G>C, XM_047432237.1:c.1099G>C, XM_047432239.1:c.1308G>C, XM_047432236.1:c.1308G>C, XM_047432238.1:c.1308G>C, NP_001996.1:p.Glu425Gln, NP_001137257.1:p.Glu367Gln, NP_001137255.1:p.Glu367Gln, NP_001137256.1:p.Glu425Gln, XP_016877498.1:p.Glu425Gln, XP_005254939.1:p.Glu425Gln, XP_016877494.1:p.Glu425Gln, XP_016877499.1:p.Glu367Gln, XP_005254937.1:p.Glu367Gln, XP_016877495.1:p.Glu367Gln, XP_016877496.1:p.Glu425Gln, XP_016877497.1:p.Glu367Gln, XP_047288189.1:p.Glu425Gln, XP_047288190.1:p.Glu367Gln, XP_047288191.1:p.Glu425Gln, XP_047288193.1:p.Glu367Gln, XP_047288195.1:p.Trp436Cys, XP_047288192.1:p.Trp436Cys, XP_047288194.1:p.Trp436Cys

                  9.

                  rs1476316261 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:90892095 (GRCh38)
                    15:91435325 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:90892094:G:A
                    Gene:
                    FES (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                    HGVS:
                    NC_000015.10:g.90892095G>A, NC_000015.9:g.91435325G>A, NG_029671.1:g.12638G>A, NM_002005.4:c.1691G>A, NM_002005.3:c.1691G>A, NM_001143785.2:c.1307G>A, NM_001143785.1:c.1307G>A, NM_001143783.1:c.1517G>A, NM_001143784.1:c.1481G>A, XM_017022009.3:c.1691G>A, XM_017022009.2:c.1691G>A, XM_017022009.1:c.1691G>A, XM_005254882.3:c.1481G>A, XM_005254882.2:c.1481G>A, XM_005254882.1:c.1481G>A, XM_017022005.2:c.1691G>A, XM_017022005.1:c.1691G>A, XM_017022010.2:c.1517G>A, XM_017022010.1:c.1517G>A, XM_005254880.2:c.1517G>A, XM_005254880.1:c.1517G>A, XM_017022006.2:c.1517G>A, XM_017022006.1:c.1517G>A, XM_017022007.2:c.1481G>A, XM_017022007.1:c.1481G>A, XM_017022008.2:c.1307G>A, XM_017022008.1:c.1307G>A, XM_047432233.1:c.1691G>A, XM_047432234.1:c.1517G>A, XM_047432235.1:c.1481G>A, XM_047432237.1:c.1307G>A, NP_001996.1:p.Gly564Asp, NP_001137257.1:p.Gly436Asp, NP_001137255.1:p.Gly506Asp, NP_001137256.1:p.Gly494Asp, XP_016877498.1:p.Gly564Asp, XP_005254939.1:p.Gly494Asp, XP_016877494.1:p.Gly564Asp, XP_016877499.1:p.Gly506Asp, XP_005254937.1:p.Gly506Asp, XP_016877495.1:p.Gly506Asp, XP_016877496.1:p.Gly494Asp, XP_016877497.1:p.Gly436Asp, XP_047288189.1:p.Gly564Asp, XP_047288190.1:p.Gly506Asp, XP_047288191.1:p.Gly494Asp, XP_047288193.1:p.Gly436Asp

                    10.

                    rs1476041812 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      15:90889951 (GRCh38)
                      15:91433181 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:90889950:CCCCC:CCCC
                      Gene:
                      FES (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      HGVS:
                      NC_000015.10:g.90889955del, NC_000015.9:g.91433185del, NG_029671.1:g.10498del, NM_002005.4:c.1042del, NM_002005.3:c.1042del, NM_001143785.2:c.868del, NM_001143785.1:c.868del, NM_001143783.1:c.868del, NM_001143784.1:c.1042del, XM_017022009.3:c.1042del, XM_017022009.2:c.1042del, XM_017022009.1:c.1042del, XM_005254882.3:c.1042del, XM_005254882.2:c.1042del, XM_005254882.1:c.1042del, XM_017022005.2:c.1042del, XM_017022005.1:c.1042del, XM_017022010.2:c.868del, XM_017022010.1:c.868del, XM_005254880.2:c.868del, XM_005254880.1:c.868del, XM_017022006.2:c.868del, XM_017022006.1:c.868del, XM_017022007.2:c.1042del, XM_017022007.1:c.1042del, XM_017022008.2:c.868del, XM_017022008.1:c.868del, XM_047432233.1:c.1042del, XM_047432234.1:c.868del, XM_047432235.1:c.1042del, XM_047432237.1:c.868del, XM_047432239.1:c.1042del, XM_047432236.1:c.1042del, XM_047432238.1:c.1042del, NP_001996.1:p.Arg348fs, NP_001137257.1:p.Arg290fs, NP_001137255.1:p.Arg290fs, NP_001137256.1:p.Arg348fs, XP_016877498.1:p.Arg348fs, XP_005254939.1:p.Arg348fs, XP_016877494.1:p.Arg348fs, XP_016877499.1:p.Arg290fs, XP_005254937.1:p.Arg290fs, XP_016877495.1:p.Arg290fs, XP_016877496.1:p.Arg348fs, XP_016877497.1:p.Arg290fs, XP_047288189.1:p.Arg348fs, XP_047288190.1:p.Arg290fs, XP_047288191.1:p.Arg348fs, XP_047288193.1:p.Arg290fs, XP_047288195.1:p.Arg348fs, XP_047288192.1:p.Arg348fs, XP_047288194.1:p.Arg348fs

                      11.

                      rs1475931622 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:90885128 (GRCh38)
                        15:91428358 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:90885127:A:G
                        Gene:
                        FES (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000015.10:g.90885128A>G, NC_000015.9:g.91428358A>G, NG_029671.1:g.5671A>G, NM_002005.4:c.83A>G, NM_002005.3:c.83A>G, NM_001143785.2:c.83A>G, NM_001143785.1:c.83A>G, NM_001143783.1:c.83A>G, NM_001143784.1:c.83A>G, XM_017022009.3:c.83A>G, XM_017022009.2:c.83A>G, XM_017022009.1:c.83A>G, XM_005254882.3:c.83A>G, XM_005254882.2:c.83A>G, XM_005254882.1:c.83A>G, XM_017022005.2:c.83A>G, XM_017022005.1:c.83A>G, XM_017022010.2:c.83A>G, XM_017022010.1:c.83A>G, XM_005254880.2:c.83A>G, XM_005254880.1:c.83A>G, XM_017022006.2:c.83A>G, XM_017022006.1:c.83A>G, XM_017022007.2:c.83A>G, XM_017022007.1:c.83A>G, XM_017022008.2:c.83A>G, XM_017022008.1:c.83A>G, XM_047432233.1:c.83A>G, XM_047432234.1:c.83A>G, XM_047432235.1:c.83A>G, XM_047432237.1:c.83A>G, XM_047432239.1:c.83A>G, XM_047432236.1:c.83A>G, XM_047432238.1:c.83A>G, NP_001996.1:p.Glu28Gly, NP_001137257.1:p.Glu28Gly, NP_001137255.1:p.Glu28Gly, NP_001137256.1:p.Glu28Gly, XP_016877498.1:p.Glu28Gly, XP_005254939.1:p.Glu28Gly, XP_016877494.1:p.Glu28Gly, XP_016877499.1:p.Glu28Gly, XP_005254937.1:p.Glu28Gly, XP_016877495.1:p.Glu28Gly, XP_016877496.1:p.Glu28Gly, XP_016877497.1:p.Glu28Gly, XP_047288189.1:p.Glu28Gly, XP_047288190.1:p.Glu28Gly, XP_047288191.1:p.Glu28Gly, XP_047288193.1:p.Glu28Gly, XP_047288195.1:p.Glu28Gly, XP_047288192.1:p.Glu28Gly, XP_047288194.1:p.Glu28Gly

                        12.

                        rs1474696039 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          15:90889939 (GRCh38)
                          15:91433169 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:90889938:G:T
                          Gene:
                          FES (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000015.10:g.90889939G>T, NC_000015.9:g.91433169G>T, NG_029671.1:g.10482G>T, NM_002005.4:c.1026G>T, NM_002005.3:c.1026G>T, NM_001143785.2:c.852G>T, NM_001143785.1:c.852G>T, NM_001143783.1:c.852G>T, NM_001143784.1:c.1026G>T, XM_017022009.3:c.1026G>T, XM_017022009.2:c.1026G>T, XM_017022009.1:c.1026G>T, XM_005254882.3:c.1026G>T, XM_005254882.2:c.1026G>T, XM_005254882.1:c.1026G>T, XM_017022005.2:c.1026G>T, XM_017022005.1:c.1026G>T, XM_017022010.2:c.852G>T, XM_017022010.1:c.852G>T, XM_005254880.2:c.852G>T, XM_005254880.1:c.852G>T, XM_017022006.2:c.852G>T, XM_017022006.1:c.852G>T, XM_017022007.2:c.1026G>T, XM_017022007.1:c.1026G>T, XM_017022008.2:c.852G>T, XM_017022008.1:c.852G>T, XM_047432233.1:c.1026G>T, XM_047432234.1:c.852G>T, XM_047432235.1:c.1026G>T, XM_047432237.1:c.852G>T, XM_047432239.1:c.1026G>T, XM_047432236.1:c.1026G>T, XM_047432238.1:c.1026G>T, NP_001996.1:p.Glu342Asp, NP_001137257.1:p.Glu284Asp, NP_001137255.1:p.Glu284Asp, NP_001137256.1:p.Glu342Asp, XP_016877498.1:p.Glu342Asp, XP_005254939.1:p.Glu342Asp, XP_016877494.1:p.Glu342Asp, XP_016877499.1:p.Glu284Asp, XP_005254937.1:p.Glu284Asp, XP_016877495.1:p.Glu284Asp, XP_016877496.1:p.Glu342Asp, XP_016877497.1:p.Glu284Asp, XP_047288189.1:p.Glu342Asp, XP_047288190.1:p.Glu284Asp, XP_047288191.1:p.Glu342Asp, XP_047288193.1:p.Glu284Asp, XP_047288195.1:p.Glu342Asp, XP_047288192.1:p.Glu342Asp, XP_047288194.1:p.Glu342Asp

                          13.

                          rs1474377166 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:90885513 (GRCh38)
                            15:91428743 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:90885512:C:T
                            Gene:
                            FES (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1473787877 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:90893748 (GRCh38)
                              15:91436978 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:90893747:G:A
                              Gene:
                              FES (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              HGVS:
                              NC_000015.10:g.90893748G>A, NC_000015.9:g.91436978G>A, NG_029671.1:g.14291G>A, NM_002005.4:c.2140G>A, NM_002005.3:c.2140G>A, NM_001143785.2:c.1756G>A, NM_001143785.1:c.1756G>A, NM_001143783.1:c.1966G>A, NM_001143784.1:c.1930G>A, XM_017022009.3:c.2140G>A, XM_017022009.2:c.2140G>A, XM_017022009.1:c.2140G>A, XM_005254882.3:c.1930G>A, XM_005254882.2:c.1930G>A, XM_005254882.1:c.1930G>A, XM_017022005.2:c.2140G>A, XM_017022005.1:c.2140G>A, XM_017022010.2:c.1966G>A, XM_017022010.1:c.1966G>A, XM_005254880.2:c.1966G>A, XM_005254880.1:c.1966G>A, XM_017022006.2:c.1966G>A, XM_017022006.1:c.1966G>A, XM_017022007.2:c.1930G>A, XM_017022007.1:c.1930G>A, XM_017022008.2:c.1756G>A, XM_017022008.1:c.1756G>A, XM_047432233.1:c.2140G>A, XM_047432234.1:c.1966G>A, XM_047432235.1:c.1930G>A, XM_047432237.1:c.1756G>A, NP_001996.1:p.Ala714Thr, NP_001137257.1:p.Ala586Thr, NP_001137255.1:p.Ala656Thr, NP_001137256.1:p.Ala644Thr, XP_016877498.1:p.Ala714Thr, XP_005254939.1:p.Ala644Thr, XP_016877494.1:p.Ala714Thr, XP_016877499.1:p.Ala656Thr, XP_005254937.1:p.Ala656Thr, XP_016877495.1:p.Ala656Thr, XP_016877496.1:p.Ala644Thr, XP_016877497.1:p.Ala586Thr, XP_047288189.1:p.Ala714Thr, XP_047288190.1:p.Ala656Thr, XP_047288191.1:p.Ala644Thr, XP_047288193.1:p.Ala586Thr

                              15.

                              rs1473727417 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:90885470 (GRCh38)
                                15:91428700 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:90885469:C:T
                                Gene:
                                FES (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000015.10:g.90885470C>T, NC_000015.9:g.91428700C>T, NG_029671.1:g.6013C>T, NM_002005.4:c.272C>T, NM_002005.3:c.272C>T, NM_001143784.1:c.272C>T, XM_017022009.3:c.272C>T, XM_017022009.2:c.272C>T, XM_017022009.1:c.272C>T, XM_005254882.3:c.272C>T, XM_005254882.2:c.272C>T, XM_005254882.1:c.272C>T, XM_017022005.2:c.272C>T, XM_017022005.1:c.272C>T, XM_017022007.2:c.272C>T, XM_017022007.1:c.272C>T, XM_047432233.1:c.272C>T, XM_047432235.1:c.272C>T, XM_047432239.1:c.272C>T, XM_047432236.1:c.272C>T, XM_047432238.1:c.272C>T, NP_001996.1:p.Ala91Val, NP_001137256.1:p.Ala91Val, XP_016877498.1:p.Ala91Val, XP_005254939.1:p.Ala91Val, XP_016877494.1:p.Ala91Val, XP_016877496.1:p.Ala91Val, XP_047288189.1:p.Ala91Val, XP_047288191.1:p.Ala91Val, XP_047288195.1:p.Ala91Val, XP_047288192.1:p.Ala91Val, XP_047288194.1:p.Ala91Val

                                16.

                                rs1473650663 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:90887291 (GRCh38)
                                  15:91430521 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:90887290:C:T
                                  Gene:
                                  FES (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.90887291C>T, NC_000015.9:g.91430521C>T, NG_029671.1:g.7834C>T, NM_002005.4:c.589C>T, NM_002005.3:c.589C>T, NM_001143785.2:c.415C>T, NM_001143785.1:c.415C>T, NM_001143783.1:c.415C>T, NM_001143784.1:c.589C>T, XM_017022009.3:c.589C>T, XM_017022009.2:c.589C>T, XM_017022009.1:c.589C>T, XM_005254882.3:c.589C>T, XM_005254882.2:c.589C>T, XM_005254882.1:c.589C>T, XM_017022005.2:c.589C>T, XM_017022005.1:c.589C>T, XM_017022010.2:c.415C>T, XM_017022010.1:c.415C>T, XM_005254880.2:c.415C>T, XM_005254880.1:c.415C>T, XM_017022006.2:c.415C>T, XM_017022006.1:c.415C>T, XM_017022007.2:c.589C>T, XM_017022007.1:c.589C>T, XM_017022008.2:c.415C>T, XM_017022008.1:c.415C>T, XM_047432233.1:c.589C>T, XM_047432234.1:c.415C>T, XM_047432235.1:c.589C>T, XM_047432237.1:c.415C>T, XM_047432239.1:c.589C>T, XM_047432236.1:c.589C>T, XM_047432238.1:c.589C>T, NP_001996.1:p.His197Tyr, NP_001137257.1:p.His139Tyr, NP_001137255.1:p.His139Tyr, NP_001137256.1:p.His197Tyr, XP_016877498.1:p.His197Tyr, XP_005254939.1:p.His197Tyr, XP_016877494.1:p.His197Tyr, XP_016877499.1:p.His139Tyr, XP_005254937.1:p.His139Tyr, XP_016877495.1:p.His139Tyr, XP_016877496.1:p.His197Tyr, XP_016877497.1:p.His139Tyr, XP_047288189.1:p.His197Tyr, XP_047288190.1:p.His139Tyr, XP_047288191.1:p.His197Tyr, XP_047288193.1:p.His139Tyr, XP_047288195.1:p.His197Tyr, XP_047288192.1:p.His197Tyr, XP_047288194.1:p.His197Tyr

                                  17.

                                  rs1470586335 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:90887194 (GRCh38)
                                    15:91430424 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:90887193:C:T
                                    Gene:
                                    FES (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    HGVS:
                                    NC_000015.10:g.90887194C>T, NC_000015.9:g.91430424C>T, NG_029671.1:g.7737C>T, NM_002005.4:c.492C>T, NM_002005.3:c.492C>T, NM_001143785.2:c.318C>T, NM_001143785.1:c.318C>T, NM_001143783.1:c.318C>T, NM_001143784.1:c.492C>T, XM_017022009.3:c.492C>T, XM_017022009.2:c.492C>T, XM_017022009.1:c.492C>T, XM_005254882.3:c.492C>T, XM_005254882.2:c.492C>T, XM_005254882.1:c.492C>T, XM_017022005.2:c.492C>T, XM_017022005.1:c.492C>T, XM_017022010.2:c.318C>T, XM_017022010.1:c.318C>T, XM_005254880.2:c.318C>T, XM_005254880.1:c.318C>T, XM_017022006.2:c.318C>T, XM_017022006.1:c.318C>T, XM_017022007.2:c.492C>T, XM_017022007.1:c.492C>T, XM_017022008.2:c.318C>T, XM_017022008.1:c.318C>T, XM_047432233.1:c.492C>T, XM_047432234.1:c.318C>T, XM_047432235.1:c.492C>T, XM_047432237.1:c.318C>T, XM_047432239.1:c.492C>T, XM_047432236.1:c.492C>T, XM_047432238.1:c.492C>T

                                    18.

                                    rs1470268275 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:90890099 (GRCh38)
                                      15:91433329 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:90890098:C:T
                                      Gene:
                                      FES (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000012/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.90890099C>T, NC_000015.9:g.91433329C>T, NG_029671.1:g.10642C>T, NM_002005.4:c.1057C>T, NM_002005.3:c.1057C>T, NM_001143785.2:c.883C>T, NM_001143785.1:c.883C>T, NM_001143783.1:c.883C>T, NM_001143784.1:c.1057C>T, XM_017022009.3:c.1057C>T, XM_017022009.2:c.1057C>T, XM_017022009.1:c.1057C>T, XM_005254882.3:c.1057C>T, XM_005254882.2:c.1057C>T, XM_005254882.1:c.1057C>T, XM_017022005.2:c.1057C>T, XM_017022005.1:c.1057C>T, XM_017022010.2:c.883C>T, XM_017022010.1:c.883C>T, XM_005254880.2:c.883C>T, XM_005254880.1:c.883C>T, XM_017022006.2:c.883C>T, XM_017022006.1:c.883C>T, XM_017022007.2:c.1057C>T, XM_017022007.1:c.1057C>T, XM_017022008.2:c.883C>T, XM_017022008.1:c.883C>T, XM_047432233.1:c.1057C>T, XM_047432234.1:c.883C>T, XM_047432235.1:c.1057C>T, XM_047432237.1:c.883C>T, XM_047432239.1:c.1057C>T, XM_047432236.1:c.1057C>T, XM_047432238.1:c.1057C>T

                                      19.

                                      rs1469908994 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GT>- [Show Flanks]
                                        Chromosome:
                                        15:90892724 (GRCh38)
                                        15:91435954 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:90892721:GTGT:GT
                                        Gene:
                                        FES (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTGT=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000015.10:g.90892722GT[1], NC_000015.9:g.91435952GT[1], NG_029671.1:g.13265GT[1], NM_002005.4:c.1725_1726del, NM_002005.3:c.1725_1726del, NM_001143785.2:c.1341_1342del, NM_001143785.1:c.1341_1342del, NM_001143783.1:c.1551_1552del, NM_001143784.1:c.1515_1516del, XM_017022009.3:c.1725_1726del, XM_017022009.2:c.1725_1726del, XM_017022009.1:c.1725_1726del, XM_005254882.3:c.1515_1516del, XM_005254882.2:c.1515_1516del, XM_005254882.1:c.1515_1516del, XM_017022005.2:c.1725_1726del, XM_017022005.1:c.1725_1726del, XM_017022010.2:c.1551_1552del, XM_017022010.1:c.1551_1552del, XM_005254880.2:c.1551_1552del, XM_005254880.1:c.1551_1552del, XM_017022006.2:c.1551_1552del, XM_017022006.1:c.1551_1552del, XM_017022007.2:c.1515_1516del, XM_017022007.1:c.1515_1516del, XM_017022008.2:c.1341_1342del, XM_017022008.1:c.1341_1342del, XM_047432233.1:c.1725_1726del, XM_047432234.1:c.1551_1552del, XM_047432235.1:c.1515_1516del, XM_047432237.1:c.1341_1342del, NP_001996.1:p.Phe576fs, NP_001137257.1:p.Phe448fs, NP_001137255.1:p.Phe518fs, NP_001137256.1:p.Phe506fs, XP_016877498.1:p.Phe576fs, XP_005254939.1:p.Phe506fs, XP_016877494.1:p.Phe576fs, XP_016877499.1:p.Phe518fs, XP_005254937.1:p.Phe518fs, XP_016877495.1:p.Phe518fs, XP_016877496.1:p.Phe506fs, XP_016877497.1:p.Phe448fs, XP_047288189.1:p.Phe576fs, XP_047288190.1:p.Phe518fs, XP_047288191.1:p.Phe506fs, XP_047288193.1:p.Phe448fs

                                        20.

                                        rs1469236073 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          15:90891055 (GRCh38)
                                          15:91434285 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:90891054:T:G
                                          Gene:
                                          FES (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.90891055T>G, NC_000015.9:g.91434285T>G, NG_029671.1:g.11598T>G, NM_002005.4:c.1394T>G, NM_002005.3:c.1394T>G, NM_001143783.1:c.1220T>G, XM_017022009.3:c.1394T>G, XM_017022009.2:c.1394T>G, XM_017022009.1:c.1394T>G, XM_017022005.2:c.1394T>G, XM_017022005.1:c.1394T>G, XM_017022010.2:c.1220T>G, XM_017022010.1:c.1220T>G, XM_005254880.2:c.1220T>G, XM_005254880.1:c.1220T>G, XM_017022006.2:c.1220T>G, XM_017022006.1:c.1220T>G, XM_047432233.1:c.1394T>G, XM_047432234.1:c.1220T>G, XM_047432239.1:c.1429T>G, XM_047432236.1:c.1429T>G, NP_001996.1:p.Ile465Ser, NP_001137255.1:p.Ile407Ser, XP_016877498.1:p.Ile465Ser, XP_016877494.1:p.Ile465Ser, XP_016877499.1:p.Ile407Ser, XP_005254937.1:p.Ile407Ser, XP_016877495.1:p.Ile407Ser, XP_047288189.1:p.Ile465Ser, XP_047288190.1:p.Ile407Ser, XP_047288195.1:p.Ser477Ala, XP_047288192.1:p.Ser477Ala

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