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Items: 1 to 20 of 1452

1.

rs1489865209 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:551522 (GRCh38)
    16:601522 (GRCh37)
    Canonical SPDI:
    NC_000016.10:551521:C:T
    Gene:
    CAPN15 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    HGVS:
    NC_000016.10:g.551522C>T, NC_000016.9:g.601522C>T, XM_011522628.4:c.2203C>T, XM_011522628.3:c.2203C>T, XM_011522628.2:c.2203C>T, XM_011522628.1:c.2203C>T, XM_011522629.4:c.2203C>T, XM_011522629.3:c.2203C>T, XM_011522629.2:c.2203C>T, XM_011522629.1:c.2203C>T, XM_011522625.3:c.2407C>T, XM_011522625.2:c.2407C>T, XM_011522625.1:c.2407C>T, NM_005632.3:c.2203C>T, NM_005632.2:c.2203C>T, XM_011522631.3:c.2203C>T, XM_011522631.2:c.2203C>T, XM_011522631.1:c.2203C>T, XM_047434534.1:c.2404C>T, XM_047434525.1:c.2407C>T, XM_047434530.1:c.2407C>T, XM_047434526.1:c.2407C>T, XM_047434527.1:c.2407C>T, XM_047434528.1:c.2407C>T, XM_047434529.1:c.2407C>T, XM_047434533.1:c.2203C>T, XM_047434535.1:c.2203C>T, XM_047434531.1:c.2203C>T, XM_047434532.1:c.2203C>T, XP_011520930.1:p.Leu735Phe, XP_011520931.1:p.Leu735Phe, XP_011520927.1:p.Leu803Phe, NP_005623.1:p.Leu735Phe, XP_011520933.1:p.Leu735Phe, XP_047290490.1:p.Leu802Phe, XP_047290481.1:p.Leu803Phe, XP_047290486.1:p.Leu803Phe, XP_047290482.1:p.Leu803Phe, XP_047290483.1:p.Leu803Phe, XP_047290484.1:p.Leu803Phe, XP_047290485.1:p.Leu803Phe, XP_047290489.1:p.Leu735Phe, XP_047290491.1:p.Leu735Phe, XP_047290487.1:p.Leu735Phe, XP_047290488.1:p.Leu735Phe

    2.

    rs1489369665 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:548223 (GRCh38)
      16:598223 (GRCh37)
      Canonical SPDI:
      NC_000016.10:548222:G:A
      Gene:
      CAPN15 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000014/2 (GnomAD_exomes)
      A=0.000035/1 (TOMMO)
      HGVS:
      NC_000016.10:g.548223G>A, NC_000016.9:g.598223G>A, XM_011522628.4:c.1385G>A, XM_011522628.3:c.1385G>A, XM_011522628.2:c.1385G>A, XM_011522628.1:c.1385G>A, XM_011522629.4:c.1385G>A, XM_011522629.3:c.1385G>A, XM_011522629.2:c.1385G>A, XM_011522629.1:c.1385G>A, XM_011522625.3:c.1589G>A, XM_011522625.2:c.1589G>A, XM_011522625.1:c.1589G>A, NM_005632.3:c.1385G>A, NM_005632.2:c.1385G>A, XM_011522631.3:c.1385G>A, XM_011522631.2:c.1385G>A, XM_011522631.1:c.1385G>A, XM_047434534.1:c.1586G>A, XM_047434525.1:c.1589G>A, XM_047434530.1:c.1589G>A, XM_047434526.1:c.1589G>A, XM_047434527.1:c.1589G>A, XM_047434528.1:c.1589G>A, XM_047434529.1:c.1589G>A, XM_047434533.1:c.1385G>A, XM_047434535.1:c.1385G>A, XM_047434531.1:c.1385G>A, XM_047434532.1:c.1385G>A, XP_011520930.1:p.Arg462Gln, XP_011520931.1:p.Arg462Gln, XP_011520927.1:p.Arg530Gln, NP_005623.1:p.Arg462Gln, XP_011520933.1:p.Arg462Gln, XP_047290490.1:p.Arg529Gln, XP_047290481.1:p.Arg530Gln, XP_047290486.1:p.Arg530Gln, XP_047290482.1:p.Arg530Gln, XP_047290483.1:p.Arg530Gln, XP_047290484.1:p.Arg530Gln, XP_047290485.1:p.Arg530Gln, XP_047290489.1:p.Arg462Gln, XP_047290491.1:p.Arg462Gln, XP_047290487.1:p.Arg462Gln, XP_047290488.1:p.Arg462Gln

      3.

      rs1488160625 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        16:553364 (GRCh38)
        16:603364 (GRCh37)
        Canonical SPDI:
        NC_000016.10:553363:C:A
        Gene:
        CAPN15 (Varview)
        Functional Consequence:
        coding_sequence_variant,3_prime_UTR_variant,missense_variant
        HGVS:
        NC_000016.10:g.553364C>A, NC_000016.9:g.603364C>A, XM_011522628.4:c.3133C>A, XM_011522628.3:c.3133C>A, XM_011522628.2:c.3133C>A, XM_011522628.1:c.3133C>A, XM_011522629.4:c.3133C>A, XM_011522629.3:c.3133C>A, XM_011522629.2:c.3133C>A, XM_011522629.1:c.3133C>A, XM_011522625.3:c.3337C>A, XM_011522625.2:c.3337C>A, XM_011522625.1:c.3337C>A, NM_005632.3:c.3109C>A, NM_005632.2:c.3109C>A, XM_011522631.3:c.3133C>A, XM_011522631.2:c.3133C>A, XM_011522631.1:c.3133C>A, XM_047434534.1:c.3310C>A, XM_047434525.1:c.3337C>A, XM_047434530.1:c.*12C>A, XM_047434526.1:c.3337C>A, XM_047434527.1:c.3337C>A, XM_047434528.1:c.3337C>A, XM_047434529.1:c.3313C>A, XM_047434533.1:c.3109C>A, XM_047434535.1:c.*12C>A, XM_047434531.1:c.3133C>A, XM_047434532.1:c.3133C>A, XP_011520930.1:p.Leu1045Ile, XP_011520931.1:p.Leu1045Ile, XP_011520927.1:p.Leu1113Ile, NP_005623.1:p.Leu1037Ile, XP_011520933.1:p.Leu1045Ile, XP_047290490.1:p.Leu1104Ile, XP_047290481.1:p.Leu1113Ile, XP_047290482.1:p.Leu1113Ile, XP_047290483.1:p.Leu1113Ile, XP_047290484.1:p.Leu1113Ile, XP_047290485.1:p.Leu1105Ile, XP_047290489.1:p.Leu1037Ile, XP_047290487.1:p.Leu1045Ile, XP_047290488.1:p.Leu1045Ile

        4.

        rs1488121445 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:552607 (GRCh38)
          16:602607 (GRCh37)
          Canonical SPDI:
          NC_000016.10:552606:T:C
          Gene:
          CAPN15 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000016.10:g.552607T>C, NC_000016.9:g.602607T>C, XM_011522628.4:c.2740T>C, XM_011522628.3:c.2740T>C, XM_011522628.2:c.2740T>C, XM_011522628.1:c.2740T>C, XM_011522629.4:c.2740T>C, XM_011522629.3:c.2740T>C, XM_011522629.2:c.2740T>C, XM_011522629.1:c.2740T>C, XM_011522625.3:c.2944T>C, XM_011522625.2:c.2944T>C, XM_011522625.1:c.2944T>C, NM_005632.3:c.2740T>C, NM_005632.2:c.2740T>C, XM_011522631.3:c.2740T>C, XM_011522631.2:c.2740T>C, XM_011522631.1:c.2740T>C, XM_047434534.1:c.2941T>C, XM_047434525.1:c.2944T>C, XM_047434530.1:c.2944T>C, XM_047434526.1:c.2944T>C, XM_047434527.1:c.2944T>C, XM_047434528.1:c.2944T>C, XM_047434529.1:c.2944T>C, XM_047434533.1:c.2740T>C, XM_047434535.1:c.2740T>C, XM_047434531.1:c.2740T>C, XM_047434532.1:c.2740T>C, XP_011520930.1:p.Ser914Pro, XP_011520931.1:p.Ser914Pro, XP_011520927.1:p.Ser982Pro, NP_005623.1:p.Ser914Pro, XP_011520933.1:p.Ser914Pro, XP_047290490.1:p.Ser981Pro, XP_047290481.1:p.Ser982Pro, XP_047290486.1:p.Ser982Pro, XP_047290482.1:p.Ser982Pro, XP_047290483.1:p.Ser982Pro, XP_047290484.1:p.Ser982Pro, XP_047290485.1:p.Ser982Pro, XP_047290489.1:p.Ser914Pro, XP_047290491.1:p.Ser914Pro, XP_047290487.1:p.Ser914Pro, XP_047290488.1:p.Ser914Pro

          5.

          rs1487505282 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            16:551374 (GRCh38)
            16:601374 (GRCh37)
            Canonical SPDI:
            NC_000016.10:551373:G:C
            Gene:
            CAPN15 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:

            6.

            rs1487396183 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:548241 (GRCh38)
              16:598241 (GRCh37)
              Canonical SPDI:
              NC_000016.10:548240:G:A
              Gene:
              CAPN15 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000016.10:g.548241G>A, NC_000016.9:g.598241G>A, XM_011522628.4:c.1403G>A, XM_011522628.3:c.1403G>A, XM_011522628.2:c.1403G>A, XM_011522628.1:c.1403G>A, XM_011522629.4:c.1403G>A, XM_011522629.3:c.1403G>A, XM_011522629.2:c.1403G>A, XM_011522629.1:c.1403G>A, XM_011522625.3:c.1607G>A, XM_011522625.2:c.1607G>A, XM_011522625.1:c.1607G>A, NM_005632.3:c.1403G>A, NM_005632.2:c.1403G>A, XM_011522631.3:c.1403G>A, XM_011522631.2:c.1403G>A, XM_011522631.1:c.1403G>A, XM_047434534.1:c.1604G>A, XM_047434525.1:c.1607G>A, XM_047434530.1:c.1607G>A, XM_047434526.1:c.1607G>A, XM_047434527.1:c.1607G>A, XM_047434528.1:c.1607G>A, XM_047434529.1:c.1607G>A, XM_047434533.1:c.1403G>A, XM_047434535.1:c.1403G>A, XM_047434531.1:c.1403G>A, XM_047434532.1:c.1403G>A, XP_011520930.1:p.Gly468Asp, XP_011520931.1:p.Gly468Asp, XP_011520927.1:p.Gly536Asp, NP_005623.1:p.Gly468Asp, XP_011520933.1:p.Gly468Asp, XP_047290490.1:p.Gly535Asp, XP_047290481.1:p.Gly536Asp, XP_047290486.1:p.Gly536Asp, XP_047290482.1:p.Gly536Asp, XP_047290483.1:p.Gly536Asp, XP_047290484.1:p.Gly536Asp, XP_047290485.1:p.Gly536Asp, XP_047290489.1:p.Gly468Asp, XP_047290491.1:p.Gly468Asp, XP_047290487.1:p.Gly468Asp, XP_047290488.1:p.Gly468Asp

              7.

              rs1487254124 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                16:546993 (GRCh38)
                16:596993 (GRCh37)
                Canonical SPDI:
                NC_000016.10:546992:G:A,NC_000016.10:546992:G:T
                Gene:
                CAPN15 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000016.10:g.546993G>A, NC_000016.10:g.546993G>T, NC_000016.9:g.596993G>A, NC_000016.9:g.596993G>T, XM_011522628.4:c.155G>A, XM_011522628.4:c.155G>T, XM_011522628.3:c.155G>A, XM_011522628.3:c.155G>T, XM_011522628.2:c.155G>A, XM_011522628.2:c.155G>T, XM_011522628.1:c.155G>A, XM_011522628.1:c.155G>T, XM_011522629.4:c.155G>A, XM_011522629.4:c.155G>T, XM_011522629.3:c.155G>A, XM_011522629.3:c.155G>T, XM_011522629.2:c.155G>A, XM_011522629.2:c.155G>T, XM_011522629.1:c.155G>A, XM_011522629.1:c.155G>T, XM_011522625.3:c.359G>A, XM_011522625.3:c.359G>T, XM_011522625.2:c.359G>A, XM_011522625.2:c.359G>T, XM_011522625.1:c.359G>A, XM_011522625.1:c.359G>T, NM_005632.3:c.155G>A, NM_005632.3:c.155G>T, NM_005632.2:c.155G>A, NM_005632.2:c.155G>T, XM_011522631.3:c.155G>A, XM_011522631.3:c.155G>T, XM_011522631.2:c.155G>A, XM_011522631.2:c.155G>T, XM_011522631.1:c.155G>A, XM_011522631.1:c.155G>T, XM_047434534.1:c.356G>A, XM_047434534.1:c.356G>T, XM_047434525.1:c.359G>A, XM_047434525.1:c.359G>T, XM_047434530.1:c.359G>A, XM_047434530.1:c.359G>T, XM_047434526.1:c.359G>A, XM_047434526.1:c.359G>T, XM_047434527.1:c.359G>A, XM_047434527.1:c.359G>T, XM_047434528.1:c.359G>A, XM_047434528.1:c.359G>T, XM_047434529.1:c.359G>A, XM_047434529.1:c.359G>T, XM_047434533.1:c.155G>A, XM_047434533.1:c.155G>T, XM_047434535.1:c.155G>A, XM_047434535.1:c.155G>T, XM_047434531.1:c.155G>A, XM_047434531.1:c.155G>T, XM_047434532.1:c.155G>A, XM_047434532.1:c.155G>T, XP_011520930.1:p.Arg52His, XP_011520930.1:p.Arg52Leu, XP_011520931.1:p.Arg52His, XP_011520931.1:p.Arg52Leu, XP_011520927.1:p.Arg120His, XP_011520927.1:p.Arg120Leu, NP_005623.1:p.Arg52His, NP_005623.1:p.Arg52Leu, XP_011520933.1:p.Arg52His, XP_011520933.1:p.Arg52Leu, XP_047290490.1:p.Arg119His, XP_047290490.1:p.Arg119Leu, XP_047290481.1:p.Arg120His, XP_047290481.1:p.Arg120Leu, XP_047290486.1:p.Arg120His, XP_047290486.1:p.Arg120Leu, XP_047290482.1:p.Arg120His, XP_047290482.1:p.Arg120Leu, XP_047290483.1:p.Arg120His, XP_047290483.1:p.Arg120Leu, XP_047290484.1:p.Arg120His, XP_047290484.1:p.Arg120Leu, XP_047290485.1:p.Arg120His, XP_047290485.1:p.Arg120Leu, XP_047290489.1:p.Arg52His, XP_047290489.1:p.Arg52Leu, XP_047290491.1:p.Arg52His, XP_047290491.1:p.Arg52Leu, XP_047290487.1:p.Arg52His, XP_047290487.1:p.Arg52Leu, XP_047290488.1:p.Arg52His, XP_047290488.1:p.Arg52Leu

                8.

                rs1486893415 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:547145 (GRCh38)
                  16:597145 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:547144:G:A
                  Gene:
                  CAPN15 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000016.10:g.547145G>A, NC_000016.9:g.597145G>A, XM_011522628.4:c.307G>A, XM_011522628.3:c.307G>A, XM_011522628.2:c.307G>A, XM_011522628.1:c.307G>A, XM_011522629.4:c.307G>A, XM_011522629.3:c.307G>A, XM_011522629.2:c.307G>A, XM_011522629.1:c.307G>A, XM_011522625.3:c.511G>A, XM_011522625.2:c.511G>A, XM_011522625.1:c.511G>A, NM_005632.3:c.307G>A, NM_005632.2:c.307G>A, XM_011522631.3:c.307G>A, XM_011522631.2:c.307G>A, XM_011522631.1:c.307G>A, XM_047434534.1:c.508G>A, XM_047434525.1:c.511G>A, XM_047434530.1:c.511G>A, XM_047434526.1:c.511G>A, XM_047434527.1:c.511G>A, XM_047434528.1:c.511G>A, XM_047434529.1:c.511G>A, XM_047434533.1:c.307G>A, XM_047434535.1:c.307G>A, XM_047434531.1:c.307G>A, XM_047434532.1:c.307G>A, XP_011520930.1:p.Glu103Lys, XP_011520931.1:p.Glu103Lys, XP_011520927.1:p.Glu171Lys, NP_005623.1:p.Glu103Lys, XP_011520933.1:p.Glu103Lys, XP_047290490.1:p.Glu170Lys, XP_047290481.1:p.Glu171Lys, XP_047290486.1:p.Glu171Lys, XP_047290482.1:p.Glu171Lys, XP_047290483.1:p.Glu171Lys, XP_047290484.1:p.Glu171Lys, XP_047290485.1:p.Glu171Lys, XP_047290489.1:p.Glu103Lys, XP_047290491.1:p.Glu103Lys, XP_047290487.1:p.Glu103Lys, XP_047290488.1:p.Glu103Lys

                  9.

                  rs1486590311 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    16:547442 (GRCh38)
                    16:597442 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:547441:C:A
                    Gene:
                    CAPN15 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.00005/7 (GnomAD)
                    A=0.000053/14 (TOPMED)
                    HGVS:
                    NC_000016.10:g.547442C>A, NC_000016.9:g.597442C>A, XM_011522628.4:c.604C>A, XM_011522628.3:c.604C>A, XM_011522628.2:c.604C>A, XM_011522628.1:c.604C>A, XM_011522629.4:c.604C>A, XM_011522629.3:c.604C>A, XM_011522629.2:c.604C>A, XM_011522629.1:c.604C>A, XM_011522625.3:c.808C>A, XM_011522625.2:c.808C>A, XM_011522625.1:c.808C>A, NM_005632.3:c.604C>A, NM_005632.2:c.604C>A, XM_011522631.3:c.604C>A, XM_011522631.2:c.604C>A, XM_011522631.1:c.604C>A, XM_047434534.1:c.805C>A, XM_047434525.1:c.808C>A, XM_047434530.1:c.808C>A, XM_047434526.1:c.808C>A, XM_047434527.1:c.808C>A, XM_047434528.1:c.808C>A, XM_047434529.1:c.808C>A, XM_047434533.1:c.604C>A, XM_047434535.1:c.604C>A, XM_047434531.1:c.604C>A, XM_047434532.1:c.604C>A, XP_011520930.1:p.Pro202Thr, XP_011520931.1:p.Pro202Thr, XP_011520927.1:p.Pro270Thr, NP_005623.1:p.Pro202Thr, XP_011520933.1:p.Pro202Thr, XP_047290490.1:p.Pro269Thr, XP_047290481.1:p.Pro270Thr, XP_047290486.1:p.Pro270Thr, XP_047290482.1:p.Pro270Thr, XP_047290483.1:p.Pro270Thr, XP_047290484.1:p.Pro270Thr, XP_047290485.1:p.Pro270Thr, XP_047290489.1:p.Pro202Thr, XP_047290491.1:p.Pro202Thr, XP_047290487.1:p.Pro202Thr, XP_047290488.1:p.Pro202Thr

                    10.

                    rs1485253564 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      16:547394 (GRCh38)
                      16:597394 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:547393:G:A,NC_000016.10:547393:G:C
                      Gene:
                      CAPN15 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000043/1 (ALFA)
                      A=0./0 (GnomAD)
                      C=0.000006/1 (GnomAD_exomes)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000016.10:g.547394G>A, NC_000016.10:g.547394G>C, NC_000016.9:g.597394G>A, NC_000016.9:g.597394G>C, XM_011522628.4:c.556G>A, XM_011522628.4:c.556G>C, XM_011522628.3:c.556G>A, XM_011522628.3:c.556G>C, XM_011522628.2:c.556G>A, XM_011522628.2:c.556G>C, XM_011522628.1:c.556G>A, XM_011522628.1:c.556G>C, XM_011522629.4:c.556G>A, XM_011522629.4:c.556G>C, XM_011522629.3:c.556G>A, XM_011522629.3:c.556G>C, XM_011522629.2:c.556G>A, XM_011522629.2:c.556G>C, XM_011522629.1:c.556G>A, XM_011522629.1:c.556G>C, XM_011522625.3:c.760G>A, XM_011522625.3:c.760G>C, XM_011522625.2:c.760G>A, XM_011522625.2:c.760G>C, XM_011522625.1:c.760G>A, XM_011522625.1:c.760G>C, NM_005632.3:c.556G>A, NM_005632.3:c.556G>C, NM_005632.2:c.556G>A, NM_005632.2:c.556G>C, XM_011522631.3:c.556G>A, XM_011522631.3:c.556G>C, XM_011522631.2:c.556G>A, XM_011522631.2:c.556G>C, XM_011522631.1:c.556G>A, XM_011522631.1:c.556G>C, XM_047434534.1:c.757G>A, XM_047434534.1:c.757G>C, XM_047434525.1:c.760G>A, XM_047434525.1:c.760G>C, XM_047434530.1:c.760G>A, XM_047434530.1:c.760G>C, XM_047434526.1:c.760G>A, XM_047434526.1:c.760G>C, XM_047434527.1:c.760G>A, XM_047434527.1:c.760G>C, XM_047434528.1:c.760G>A, XM_047434528.1:c.760G>C, XM_047434529.1:c.760G>A, XM_047434529.1:c.760G>C, XM_047434533.1:c.556G>A, XM_047434533.1:c.556G>C, XM_047434535.1:c.556G>A, XM_047434535.1:c.556G>C, XM_047434531.1:c.556G>A, XM_047434531.1:c.556G>C, XM_047434532.1:c.556G>A, XM_047434532.1:c.556G>C, XP_011520930.1:p.Glu186Lys, XP_011520930.1:p.Glu186Gln, XP_011520931.1:p.Glu186Lys, XP_011520931.1:p.Glu186Gln, XP_011520927.1:p.Glu254Lys, XP_011520927.1:p.Glu254Gln, NP_005623.1:p.Glu186Lys, NP_005623.1:p.Glu186Gln, XP_011520933.1:p.Glu186Lys, XP_011520933.1:p.Glu186Gln, XP_047290490.1:p.Glu253Lys, XP_047290490.1:p.Glu253Gln, XP_047290481.1:p.Glu254Lys, XP_047290481.1:p.Glu254Gln, XP_047290486.1:p.Glu254Lys, XP_047290486.1:p.Glu254Gln, XP_047290482.1:p.Glu254Lys, XP_047290482.1:p.Glu254Gln, XP_047290483.1:p.Glu254Lys, XP_047290483.1:p.Glu254Gln, XP_047290484.1:p.Glu254Lys, XP_047290484.1:p.Glu254Gln, XP_047290485.1:p.Glu254Lys, XP_047290485.1:p.Glu254Gln, XP_047290489.1:p.Glu186Lys, XP_047290489.1:p.Glu186Gln, XP_047290491.1:p.Glu186Lys, XP_047290491.1:p.Glu186Gln, XP_047290487.1:p.Glu186Lys, XP_047290487.1:p.Glu186Gln, XP_047290488.1:p.Glu186Lys, XP_047290488.1:p.Glu186Gln

                      11.

                      rs1485091501 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:546902 (GRCh38)
                        16:596902 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:546901:C:T
                        Gene:
                        CAPN15 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000016.10:g.546902C>T, NC_000016.9:g.596902C>T, XM_011522628.4:c.64C>T, XM_011522628.3:c.64C>T, XM_011522628.2:c.64C>T, XM_011522628.1:c.64C>T, XM_011522629.4:c.64C>T, XM_011522629.3:c.64C>T, XM_011522629.2:c.64C>T, XM_011522629.1:c.64C>T, XM_011522625.3:c.268C>T, XM_011522625.2:c.268C>T, XM_011522625.1:c.268C>T, NM_005632.3:c.64C>T, NM_005632.2:c.64C>T, XM_011522631.3:c.64C>T, XM_011522631.2:c.64C>T, XM_011522631.1:c.64C>T, XM_047434534.1:c.265C>T, XM_047434525.1:c.268C>T, XM_047434530.1:c.268C>T, XM_047434526.1:c.268C>T, XM_047434527.1:c.268C>T, XM_047434528.1:c.268C>T, XM_047434529.1:c.268C>T, XM_047434533.1:c.64C>T, XM_047434535.1:c.64C>T, XM_047434531.1:c.64C>T, XM_047434532.1:c.64C>T, XP_011520930.1:p.Gln22Ter, XP_011520931.1:p.Gln22Ter, XP_011520927.1:p.Gln90Ter, NP_005623.1:p.Gln22Ter, XP_011520933.1:p.Gln22Ter, XP_047290490.1:p.Gln89Ter, XP_047290481.1:p.Gln90Ter, XP_047290486.1:p.Gln90Ter, XP_047290482.1:p.Gln90Ter, XP_047290483.1:p.Gln90Ter, XP_047290484.1:p.Gln90Ter, XP_047290485.1:p.Gln90Ter, XP_047290489.1:p.Gln22Ter, XP_047290491.1:p.Gln22Ter, XP_047290487.1:p.Gln22Ter, XP_047290488.1:p.Gln22Ter

                        12.

                        rs1484981221 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:547204 (GRCh38)
                          16:597204 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:547203:G:A
                          Gene:
                          CAPN15 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          HGVS:

                          13.

                          rs1484929183 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            16:547636 (GRCh38)
                            16:597636 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:547635:A:T
                            Gene:
                            CAPN15 (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)
                            T=0.000312/2 (1000Genomes)
                            A=0.5/1 (SGDP_PRJ)
                            HGVS:

                            14.

                            rs1484737627 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:552880 (GRCh38)
                              16:602880 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:552879:C:T
                              Gene:
                              CAPN15 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              HGVS:

                              15.

                              rs1483733598 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:552060 (GRCh38)
                                16:602060 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:552059:C:T
                                Gene:
                                CAPN15 (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)
                                HGVS:

                                16.

                                rs1483518822 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:547997 (GRCh38)
                                  16:597997 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:547996:G:A
                                  Gene:
                                  CAPN15 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000057/2 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000005/1 (GnomAD_exomes)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000563/1 (Korea1K)
                                  HGVS:
                                  NC_000016.10:g.547997G>A, NC_000016.9:g.597997G>A, XM_011522628.4:c.1159G>A, XM_011522628.3:c.1159G>A, XM_011522628.2:c.1159G>A, XM_011522628.1:c.1159G>A, XM_011522629.4:c.1159G>A, XM_011522629.3:c.1159G>A, XM_011522629.2:c.1159G>A, XM_011522629.1:c.1159G>A, XM_011522625.3:c.1363G>A, XM_011522625.2:c.1363G>A, XM_011522625.1:c.1363G>A, NM_005632.3:c.1159G>A, NM_005632.2:c.1159G>A, XM_011522631.3:c.1159G>A, XM_011522631.2:c.1159G>A, XM_011522631.1:c.1159G>A, XM_047434534.1:c.1360G>A, XM_047434525.1:c.1363G>A, XM_047434530.1:c.1363G>A, XM_047434526.1:c.1363G>A, XM_047434527.1:c.1363G>A, XM_047434528.1:c.1363G>A, XM_047434529.1:c.1363G>A, XM_047434533.1:c.1159G>A, XM_047434535.1:c.1159G>A, XM_047434531.1:c.1159G>A, XM_047434532.1:c.1159G>A, XP_011520930.1:p.Asp387Asn, XP_011520931.1:p.Asp387Asn, XP_011520927.1:p.Asp455Asn, NP_005623.1:p.Asp387Asn, XP_011520933.1:p.Asp387Asn, XP_047290490.1:p.Asp454Asn, XP_047290481.1:p.Asp455Asn, XP_047290486.1:p.Asp455Asn, XP_047290482.1:p.Asp455Asn, XP_047290483.1:p.Asp455Asn, XP_047290484.1:p.Asp455Asn, XP_047290485.1:p.Asp455Asn, XP_047290489.1:p.Asp387Asn, XP_047290491.1:p.Asp387Asn, XP_047290487.1:p.Asp387Asn, XP_047290488.1:p.Asp387Asn

                                  17.

                                  rs1482747750 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:549699 (GRCh38)
                                    16:599699 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:549698:C:T
                                    Gene:
                                    CAPN15 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.549699C>T, NC_000016.9:g.599699C>T, XM_011522628.4:c.1927C>T, XM_011522628.3:c.1927C>T, XM_011522628.2:c.1927C>T, XM_011522628.1:c.1927C>T, XM_011522629.4:c.1927C>T, XM_011522629.3:c.1927C>T, XM_011522629.2:c.1927C>T, XM_011522629.1:c.1927C>T, XM_011522625.3:c.2131C>T, XM_011522625.2:c.2131C>T, XM_011522625.1:c.2131C>T, NM_005632.3:c.1927C>T, NM_005632.2:c.1927C>T, XM_011522631.3:c.1927C>T, XM_011522631.2:c.1927C>T, XM_011522631.1:c.1927C>T, XM_047434534.1:c.2128C>T, XM_047434525.1:c.2131C>T, XM_047434530.1:c.2131C>T, XM_047434526.1:c.2131C>T, XM_047434527.1:c.2131C>T, XM_047434528.1:c.2131C>T, XM_047434529.1:c.2131C>T, XM_047434533.1:c.1927C>T, XM_047434535.1:c.1927C>T, XM_047434531.1:c.1927C>T, XM_047434532.1:c.1927C>T, XP_011520930.1:p.Arg643Cys, XP_011520931.1:p.Arg643Cys, XP_011520927.1:p.Arg711Cys, NP_005623.1:p.Arg643Cys, XP_011520933.1:p.Arg643Cys, XP_047290490.1:p.Arg710Cys, XP_047290481.1:p.Arg711Cys, XP_047290486.1:p.Arg711Cys, XP_047290482.1:p.Arg711Cys, XP_047290483.1:p.Arg711Cys, XP_047290484.1:p.Arg711Cys, XP_047290485.1:p.Arg711Cys, XP_047290489.1:p.Arg643Cys, XP_047290491.1:p.Arg643Cys, XP_047290487.1:p.Arg643Cys, XP_047290488.1:p.Arg643Cys

                                    18.

                                    rs1482000258 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      16:552614 (GRCh38)
                                      16:602614 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:552613:C:G,NC_000016.10:552613:C:T
                                      Gene:
                                      CAPN15 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.552614C>G, NC_000016.10:g.552614C>T, NC_000016.9:g.602614C>G, NC_000016.9:g.602614C>T, XM_011522628.4:c.2747C>G, XM_011522628.4:c.2747C>T, XM_011522628.3:c.2747C>G, XM_011522628.3:c.2747C>T, XM_011522628.2:c.2747C>G, XM_011522628.2:c.2747C>T, XM_011522628.1:c.2747C>G, XM_011522628.1:c.2747C>T, XM_011522629.4:c.2747C>G, XM_011522629.4:c.2747C>T, XM_011522629.3:c.2747C>G, XM_011522629.3:c.2747C>T, XM_011522629.2:c.2747C>G, XM_011522629.2:c.2747C>T, XM_011522629.1:c.2747C>G, XM_011522629.1:c.2747C>T, XM_011522625.3:c.2951C>G, XM_011522625.3:c.2951C>T, XM_011522625.2:c.2951C>G, XM_011522625.2:c.2951C>T, XM_011522625.1:c.2951C>G, XM_011522625.1:c.2951C>T, NM_005632.3:c.2747C>G, NM_005632.3:c.2747C>T, NM_005632.2:c.2747C>G, NM_005632.2:c.2747C>T, XM_011522631.3:c.2747C>G, XM_011522631.3:c.2747C>T, XM_011522631.2:c.2747C>G, XM_011522631.2:c.2747C>T, XM_011522631.1:c.2747C>G, XM_011522631.1:c.2747C>T, XM_047434534.1:c.2948C>G, XM_047434534.1:c.2948C>T, XM_047434525.1:c.2951C>G, XM_047434525.1:c.2951C>T, XM_047434530.1:c.2951C>G, XM_047434530.1:c.2951C>T, XM_047434526.1:c.2951C>G, XM_047434526.1:c.2951C>T, XM_047434527.1:c.2951C>G, XM_047434527.1:c.2951C>T, XM_047434528.1:c.2951C>G, XM_047434528.1:c.2951C>T, XM_047434529.1:c.2951C>G, XM_047434529.1:c.2951C>T, XM_047434533.1:c.2747C>G, XM_047434533.1:c.2747C>T, XM_047434535.1:c.2747C>G, XM_047434535.1:c.2747C>T, XM_047434531.1:c.2747C>G, XM_047434531.1:c.2747C>T, XM_047434532.1:c.2747C>G, XM_047434532.1:c.2747C>T, XP_011520930.1:p.Pro916Arg, XP_011520930.1:p.Pro916Leu, XP_011520931.1:p.Pro916Arg, XP_011520931.1:p.Pro916Leu, XP_011520927.1:p.Pro984Arg, XP_011520927.1:p.Pro984Leu, NP_005623.1:p.Pro916Arg, NP_005623.1:p.Pro916Leu, XP_011520933.1:p.Pro916Arg, XP_011520933.1:p.Pro916Leu, XP_047290490.1:p.Pro983Arg, XP_047290490.1:p.Pro983Leu, XP_047290481.1:p.Pro984Arg, XP_047290481.1:p.Pro984Leu, XP_047290486.1:p.Pro984Arg, XP_047290486.1:p.Pro984Leu, XP_047290482.1:p.Pro984Arg, XP_047290482.1:p.Pro984Leu, XP_047290483.1:p.Pro984Arg, XP_047290483.1:p.Pro984Leu, XP_047290484.1:p.Pro984Arg, XP_047290484.1:p.Pro984Leu, XP_047290485.1:p.Pro984Arg, XP_047290485.1:p.Pro984Leu, XP_047290489.1:p.Pro916Arg, XP_047290489.1:p.Pro916Leu, XP_047290491.1:p.Pro916Arg, XP_047290491.1:p.Pro916Leu, XP_047290487.1:p.Pro916Arg, XP_047290487.1:p.Pro916Leu, XP_047290488.1:p.Pro916Arg, XP_047290488.1:p.Pro916Leu

                                      19.

                                      rs1480709305 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        16:549633 (GRCh38)
                                        16:599633 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:549632:T:G
                                        Gene:
                                        CAPN15 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.549633T>G, NC_000016.9:g.599633T>G, XM_011522628.4:c.1861T>G, XM_011522628.3:c.1861T>G, XM_011522628.2:c.1861T>G, XM_011522628.1:c.1861T>G, XM_011522629.4:c.1861T>G, XM_011522629.3:c.1861T>G, XM_011522629.2:c.1861T>G, XM_011522629.1:c.1861T>G, XM_011522625.3:c.2065T>G, XM_011522625.2:c.2065T>G, XM_011522625.1:c.2065T>G, NM_005632.3:c.1861T>G, NM_005632.2:c.1861T>G, XM_011522631.3:c.1861T>G, XM_011522631.2:c.1861T>G, XM_011522631.1:c.1861T>G, XM_047434534.1:c.2062T>G, XM_047434525.1:c.2065T>G, XM_047434530.1:c.2065T>G, XM_047434526.1:c.2065T>G, XM_047434527.1:c.2065T>G, XM_047434528.1:c.2065T>G, XM_047434529.1:c.2065T>G, XM_047434533.1:c.1861T>G, XM_047434535.1:c.1861T>G, XM_047434531.1:c.1861T>G, XM_047434532.1:c.1861T>G, XP_011520930.1:p.Trp621Gly, XP_011520931.1:p.Trp621Gly, XP_011520927.1:p.Trp689Gly, NP_005623.1:p.Trp621Gly, XP_011520933.1:p.Trp621Gly, XP_047290490.1:p.Trp688Gly, XP_047290481.1:p.Trp689Gly, XP_047290486.1:p.Trp689Gly, XP_047290482.1:p.Trp689Gly, XP_047290483.1:p.Trp689Gly, XP_047290484.1:p.Trp689Gly, XP_047290485.1:p.Trp689Gly, XP_047290489.1:p.Trp621Gly, XP_047290491.1:p.Trp621Gly, XP_047290487.1:p.Trp621Gly, XP_047290488.1:p.Trp621Gly

                                        20.

                                        rs1479220781 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:552309 (GRCh38)
                                          16:602309 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:552308:A:G
                                          Gene:
                                          CAPN15 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000016.10:g.552309A>G, NC_000016.9:g.602309A>G, XM_011522628.4:c.2516A>G, XM_011522628.3:c.2516A>G, XM_011522628.2:c.2516A>G, XM_011522628.1:c.2516A>G, XM_011522629.4:c.2516A>G, XM_011522629.3:c.2516A>G, XM_011522629.2:c.2516A>G, XM_011522629.1:c.2516A>G, XM_011522625.3:c.2720A>G, XM_011522625.2:c.2720A>G, XM_011522625.1:c.2720A>G, NM_005632.3:c.2516A>G, NM_005632.2:c.2516A>G, XM_011522631.3:c.2516A>G, XM_011522631.2:c.2516A>G, XM_011522631.1:c.2516A>G, XM_047434534.1:c.2717A>G, XM_047434525.1:c.2720A>G, XM_047434530.1:c.2720A>G, XM_047434526.1:c.2720A>G, XM_047434527.1:c.2720A>G, XM_047434528.1:c.2720A>G, XM_047434529.1:c.2720A>G, XM_047434533.1:c.2516A>G, XM_047434535.1:c.2516A>G, XM_047434531.1:c.2516A>G, XM_047434532.1:c.2516A>G, XP_011520930.1:p.Asp839Gly, XP_011520931.1:p.Asp839Gly, XP_011520927.1:p.Asp907Gly, NP_005623.1:p.Asp839Gly, XP_011520933.1:p.Asp839Gly, XP_047290490.1:p.Asp906Gly, XP_047290481.1:p.Asp907Gly, XP_047290486.1:p.Asp907Gly, XP_047290482.1:p.Asp907Gly, XP_047290483.1:p.Asp907Gly, XP_047290484.1:p.Asp907Gly, XP_047290485.1:p.Asp907Gly, XP_047290489.1:p.Asp839Gly, XP_047290491.1:p.Asp839Gly, XP_047290487.1:p.Asp839Gly, XP_047290488.1:p.Asp839Gly

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