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Items: 1 to 20 of 202

1.

rs1486440173 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:12814261 (GRCh38)
    10:12856260 (GRCh37)
    Canonical SPDI:
    NC_000010.11:12814260:G:A
    Gene:
    CAMK1D (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000051/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000010.11:g.12814261G>A, NC_000010.10:g.12856260G>A, XM_006717483.5:c.708G>A, XM_006717483.4:c.708G>A, XM_006717483.3:c.708G>A, XM_006717483.2:c.708G>A, XM_006717483.1:c.708G>A, XM_011519593.4:c.486G>A, XM_011519593.3:c.486G>A, XM_011519593.2:c.486G>A, XM_011519593.1:c.486G>A, XM_011519592.4:c.498G>A, XM_011519592.3:c.498G>A, XM_011519592.2:c.498G>A, XM_011519592.1:c.498G>A, NM_153498.4:c.708G>A, NM_153498.3:c.708G>A, NM_153498.2:c.708G>A, XM_006717482.4:c.708G>A, XM_006717482.3:c.708G>A, XM_006717482.2:c.708G>A, XM_006717482.1:c.708G>A, XM_011519591.4:c.669G>A, XM_011519591.3:c.669G>A, XM_011519591.2:c.669G>A, XM_011519591.1:c.669G>A, XM_011519595.4:c.417G>A, XM_011519595.3:c.417G>A, XM_011519595.2:c.417G>A, XM_011519595.1:c.417G>A, NM_020397.4:c.708G>A, NM_020397.3:c.708G>A, NM_020397.2:c.708G>A, NM_001351032.2:c.417G>A, NM_001351032.1:c.417G>A, XM_047425537.1:c.417G>A

    2.

    rs1483193783 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:12816272 (GRCh38)
      10:12858271 (GRCh37)
      Canonical SPDI:
      NC_000010.11:12816271:G:A
      Gene:
      CAMK1D (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000010.11:g.12816272G>A, NC_000010.10:g.12858271G>A, XM_006717483.5:c.777G>A, XM_006717483.4:c.777G>A, XM_006717483.3:c.777G>A, XM_006717483.2:c.777G>A, XM_006717483.1:c.777G>A, XM_011519593.4:c.555G>A, XM_011519593.3:c.555G>A, XM_011519593.2:c.555G>A, XM_011519593.1:c.555G>A, XM_011519592.4:c.567G>A, XM_011519592.3:c.567G>A, XM_011519592.2:c.567G>A, XM_011519592.1:c.567G>A, NM_153498.4:c.777G>A, NM_153498.3:c.777G>A, NM_153498.2:c.777G>A, XM_006717482.4:c.777G>A, XM_006717482.3:c.777G>A, XM_006717482.2:c.777G>A, XM_006717482.1:c.777G>A, XM_011519591.4:c.738G>A, XM_011519591.3:c.738G>A, XM_011519591.2:c.738G>A, XM_011519591.1:c.738G>A, XM_011519595.4:c.486G>A, XM_011519595.3:c.486G>A, XM_011519595.2:c.486G>A, XM_011519595.1:c.486G>A, NM_020397.4:c.777G>A, NM_020397.3:c.777G>A, NM_020397.2:c.777G>A, NM_001351032.2:c.486G>A, NM_001351032.1:c.486G>A, XM_047425537.1:c.486G>A

      3.

      rs1462424421 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:12825651 (GRCh38)
        10:12867650 (GRCh37)
        Canonical SPDI:
        NC_000010.11:12825650:A:G
        Gene:
        CAMK1D (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.12825651A>G, NC_000010.10:g.12867650A>G, XM_006717483.5:c.1000A>G, XM_006717483.4:c.1000A>G, XM_006717483.3:c.1000A>G, XM_006717483.2:c.1000A>G, XM_006717483.1:c.1000A>G, XM_011519593.4:c.778A>G, XM_011519593.3:c.778A>G, XM_011519593.2:c.778A>G, XM_011519593.1:c.778A>G, XM_011519592.4:c.790A>G, XM_011519592.3:c.790A>G, XM_011519592.2:c.790A>G, XM_011519592.1:c.790A>G, NM_153498.4:c.1000A>G, NM_153498.3:c.1000A>G, NM_153498.2:c.1000A>G, XM_011519591.4:c.961A>G, XM_011519591.3:c.961A>G, XM_011519591.2:c.961A>G, XM_011519591.1:c.961A>G, XM_011519595.4:c.709A>G, XM_011519595.3:c.709A>G, XM_011519595.2:c.709A>G, XM_011519595.1:c.709A>G, NM_020397.4:c.1000A>G, NM_020397.3:c.1000A>G, NM_020397.2:c.1000A>G, NM_001351032.2:c.709A>G, NM_001351032.1:c.709A>G, XM_047425537.1:c.709A>G, XP_006717546.1:p.Ser334Gly, XP_011517895.1:p.Ser260Gly, XP_011517894.1:p.Ser264Gly, NP_705718.1:p.Ser334Gly, XP_011517893.1:p.Ser321Gly, XP_011517897.1:p.Ser237Gly, NP_065130.1:p.Ser334Gly, NP_001337961.1:p.Ser237Gly, XP_047281493.1:p.Ser237Gly

        4.

        rs1455952139 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:12761061 (GRCh38)
          10:12803060 (GRCh37)
          Canonical SPDI:
          NC_000010.11:12761060:T:C
          Gene:
          CAMK1D (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.12761061T>C, NC_000010.10:g.12803060T>C, XM_006717483.5:c.413T>C, XM_006717483.4:c.413T>C, XM_006717483.3:c.413T>C, XM_006717483.2:c.413T>C, XM_006717483.1:c.413T>C, XM_011519593.4:c.191T>C, XM_011519593.3:c.191T>C, XM_011519593.2:c.191T>C, XM_011519593.1:c.191T>C, XM_011519592.4:c.203T>C, XM_011519592.3:c.203T>C, XM_011519592.2:c.203T>C, XM_011519592.1:c.203T>C, NM_153498.4:c.413T>C, NM_153498.3:c.413T>C, NM_153498.2:c.413T>C, XM_006717482.4:c.413T>C, XM_006717482.3:c.413T>C, XM_006717482.2:c.413T>C, XM_006717482.1:c.413T>C, XM_011519591.4:c.374T>C, XM_011519591.3:c.374T>C, XM_011519591.2:c.374T>C, XM_011519591.1:c.374T>C, XM_011519595.4:c.122T>C, XM_011519595.3:c.122T>C, XM_011519595.2:c.122T>C, XM_011519595.1:c.122T>C, NM_020397.4:c.413T>C, NM_020397.3:c.413T>C, NM_020397.2:c.413T>C, NM_001351032.2:c.122T>C, NM_001351032.1:c.122T>C, XM_047425537.1:c.122T>C, XP_006717546.1:p.Met138Thr, XP_011517895.1:p.Met64Thr, XP_011517894.1:p.Met68Thr, NP_705718.1:p.Met138Thr, XP_006717545.1:p.Met138Thr, XP_011517893.1:p.Met125Thr, XP_011517897.1:p.Met41Thr, NP_065130.1:p.Met138Thr, NP_001337961.1:p.Met41Thr, XP_047281493.1:p.Met41Thr

          5.

          rs1442420057 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            10:12825584 (GRCh38)
            10:12867583 (GRCh37)
            Canonical SPDI:
            NC_000010.11:12825583:T:C
            Gene:
            CAMK1D (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.12825584T>C, NC_000010.10:g.12867583T>C, XM_006717483.5:c.933T>C, XM_006717483.4:c.933T>C, XM_006717483.3:c.933T>C, XM_006717483.2:c.933T>C, XM_006717483.1:c.933T>C, XM_011519593.4:c.711T>C, XM_011519593.3:c.711T>C, XM_011519593.2:c.711T>C, XM_011519593.1:c.711T>C, XM_011519592.4:c.723T>C, XM_011519592.3:c.723T>C, XM_011519592.2:c.723T>C, XM_011519592.1:c.723T>C, NM_153498.4:c.933T>C, NM_153498.3:c.933T>C, NM_153498.2:c.933T>C, XM_006717482.4:c.933T>C, XM_006717482.3:c.933T>C, XM_006717482.2:c.933T>C, XM_006717482.1:c.933T>C, XM_011519591.4:c.894T>C, XM_011519591.3:c.894T>C, XM_011519591.2:c.894T>C, XM_011519591.1:c.894T>C, XM_011519595.4:c.642T>C, XM_011519595.3:c.642T>C, XM_011519595.2:c.642T>C, XM_011519595.1:c.642T>C, NM_020397.4:c.933T>C, NM_020397.3:c.933T>C, NM_020397.2:c.933T>C, NM_001351032.2:c.642T>C, NM_001351032.1:c.642T>C, XM_047425537.1:c.642T>C

            6.

            rs1442102703 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:12769679 (GRCh38)
              10:12811678 (GRCh37)
              Canonical SPDI:
              NC_000010.11:12769678:A:G
              Gene:
              CAMK1D (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.12769679A>G, NC_000010.10:g.12811678A>G, XM_006717483.5:c.445A>G, XM_006717483.4:c.445A>G, XM_006717483.3:c.445A>G, XM_006717483.2:c.445A>G, XM_006717483.1:c.445A>G, XM_011519593.4:c.223A>G, XM_011519593.3:c.223A>G, XM_011519593.2:c.223A>G, XM_011519593.1:c.223A>G, XM_011519592.4:c.235A>G, XM_011519592.3:c.235A>G, XM_011519592.2:c.235A>G, XM_011519592.1:c.235A>G, NM_153498.4:c.445A>G, NM_153498.3:c.445A>G, NM_153498.2:c.445A>G, XM_006717482.4:c.445A>G, XM_006717482.3:c.445A>G, XM_006717482.2:c.445A>G, XM_006717482.1:c.445A>G, XM_011519591.4:c.406A>G, XM_011519591.3:c.406A>G, XM_011519591.2:c.406A>G, XM_011519591.1:c.406A>G, XM_011519595.4:c.154A>G, XM_011519595.3:c.154A>G, XM_011519595.2:c.154A>G, XM_011519595.1:c.154A>G, NM_020397.4:c.445A>G, NM_020397.3:c.445A>G, NM_020397.2:c.445A>G, NM_001351032.2:c.154A>G, NM_001351032.1:c.154A>G, XM_047425537.1:c.154A>G, XP_006717546.1:p.Asn149Asp, XP_011517895.1:p.Asn75Asp, XP_011517894.1:p.Asn79Asp, NP_705718.1:p.Asn149Asp, XP_006717545.1:p.Asn149Asp, XP_011517893.1:p.Asn136Asp, XP_011517897.1:p.Asn52Asp, NP_065130.1:p.Asn149Asp, NP_001337961.1:p.Asn52Asp, XP_047281493.1:p.Asn52Asp

              7.

              rs1435788333 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:12760982 (GRCh38)
                10:12802981 (GRCh37)
                Canonical SPDI:
                NC_000010.11:12760981:G:A
                Gene:
                CAMK1D (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.12760982G>A, NC_000010.10:g.12802981G>A, XM_006717483.5:c.334G>A, XM_006717483.4:c.334G>A, XM_006717483.3:c.334G>A, XM_006717483.2:c.334G>A, XM_006717483.1:c.334G>A, XM_011519593.4:c.112G>A, XM_011519593.3:c.112G>A, XM_011519593.2:c.112G>A, XM_011519593.1:c.112G>A, XM_011519592.4:c.124G>A, XM_011519592.3:c.124G>A, XM_011519592.2:c.124G>A, XM_011519592.1:c.124G>A, NM_153498.4:c.334G>A, NM_153498.3:c.334G>A, NM_153498.2:c.334G>A, XM_006717482.4:c.334G>A, XM_006717482.3:c.334G>A, XM_006717482.2:c.334G>A, XM_006717482.1:c.334G>A, XM_011519591.4:c.295G>A, XM_011519591.3:c.295G>A, XM_011519591.2:c.295G>A, XM_011519591.1:c.295G>A, XM_011519595.4:c.43G>A, XM_011519595.3:c.43G>A, XM_011519595.2:c.43G>A, XM_011519595.1:c.43G>A, NM_020397.4:c.334G>A, NM_020397.3:c.334G>A, NM_020397.2:c.334G>A, NM_001351032.2:c.43G>A, NM_001351032.1:c.43G>A, XM_047425537.1:c.43G>A, XP_006717546.1:p.Glu112Lys, XP_011517895.1:p.Glu38Lys, XP_011517894.1:p.Glu42Lys, NP_705718.1:p.Glu112Lys, XP_006717545.1:p.Glu112Lys, XP_011517893.1:p.Glu99Lys, XP_011517897.1:p.Glu15Lys, NP_065130.1:p.Glu112Lys, NP_001337961.1:p.Glu15Lys, XP_047281493.1:p.Glu15Lys

                8.

                rs1433088142 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:12825721 (GRCh38)
                  10:12867720 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:12825720:G:A
                  Gene:
                  CAMK1D (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000019/5 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  HGVS:

                  9.

                  rs1427849008 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:12791194 (GRCh38)
                    10:12833193 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:12791193:C:T
                    Gene:
                    CAMK1D (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000010.11:g.12791194C>T, NC_000010.10:g.12833193C>T, XM_006717483.5:c.602C>T, XM_006717483.4:c.602C>T, XM_006717483.3:c.602C>T, XM_006717483.2:c.602C>T, XM_006717483.1:c.602C>T, XM_011519593.4:c.380C>T, XM_011519593.3:c.380C>T, XM_011519593.2:c.380C>T, XM_011519593.1:c.380C>T, XM_011519592.4:c.392C>T, XM_011519592.3:c.392C>T, XM_011519592.2:c.392C>T, XM_011519592.1:c.392C>T, NM_153498.4:c.602C>T, NM_153498.3:c.602C>T, NM_153498.2:c.602C>T, XM_006717482.4:c.602C>T, XM_006717482.3:c.602C>T, XM_006717482.2:c.602C>T, XM_006717482.1:c.602C>T, XM_011519591.4:c.563C>T, XM_011519591.3:c.563C>T, XM_011519591.2:c.563C>T, XM_011519591.1:c.563C>T, XM_011519595.4:c.311C>T, XM_011519595.3:c.311C>T, XM_011519595.2:c.311C>T, XM_011519595.1:c.311C>T, NM_020397.4:c.602C>T, NM_020397.3:c.602C>T, NM_020397.2:c.602C>T, NM_001351032.2:c.311C>T, NM_001351032.1:c.311C>T, XM_047425537.1:c.311C>T, XP_006717546.1:p.Ala201Val, XP_011517895.1:p.Ala127Val, XP_011517894.1:p.Ala131Val, NP_705718.1:p.Ala201Val, XP_006717545.1:p.Ala201Val, XP_011517893.1:p.Ala188Val, XP_011517897.1:p.Ala104Val, NP_065130.1:p.Ala201Val, NP_001337961.1:p.Ala104Val, XP_047281493.1:p.Ala104Val

                    10.

                    rs1420386279 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TACCCTCCTTTTTATGATGA>- [Show Flanks]
                      Chromosome:
                      10:12814205 (GRCh38)
                      10:12856204 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:12814204:TACCCTCCTTTTTATGATGA:
                      Gene:
                      CAMK1D (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000010.11:g.12814205_12814224del, NC_000010.10:g.12856204_12856223del, XM_006717483.5:c.652_671del, XM_006717483.4:c.652_671del, XM_006717483.3:c.652_671del, XM_006717483.2:c.652_671del, XM_006717483.1:c.652_671del, XM_011519593.4:c.430_449del, XM_011519593.3:c.430_449del, XM_011519593.2:c.430_449del, XM_011519593.1:c.430_449del, XM_011519592.4:c.442_461del, XM_011519592.3:c.442_461del, XM_011519592.2:c.442_461del, XM_011519592.1:c.442_461del, NM_153498.4:c.652_671del, NM_153498.3:c.652_671del, NM_153498.2:c.652_671del, XM_006717482.4:c.652_671del, XM_006717482.3:c.652_671del, XM_006717482.2:c.652_671del, XM_006717482.1:c.652_671del, XM_011519591.4:c.613_632del, XM_011519591.3:c.613_632del, XM_011519591.2:c.613_632del, XM_011519591.1:c.613_632del, XM_011519595.4:c.361_380del, XM_011519595.3:c.361_380del, XM_011519595.2:c.361_380del, XM_011519595.1:c.361_380del, NM_020397.4:c.652_671del, NM_020397.3:c.652_671del, NM_020397.2:c.652_671del, NM_001351032.2:c.361_380del, NM_001351032.1:c.361_380del, XM_047425537.1:c.361_380del, XP_006717546.1:p.Tyr218fs, XP_011517895.1:p.Tyr144fs, XP_011517894.1:p.Tyr148fs, NP_705718.1:p.Tyr218fs, XP_006717545.1:p.Tyr218fs, XP_011517893.1:p.Tyr205fs, XP_011517897.1:p.Tyr121fs, NP_065130.1:p.Tyr218fs, NP_001337961.1:p.Tyr121fs, XP_047281493.1:p.Tyr121fs

                      11.

                      rs1416718650 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:12814235 (GRCh38)
                        10:12856234 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:12814234:A:G
                        Gene:
                        CAMK1D (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.12814235A>G, NC_000010.10:g.12856234A>G, XM_006717483.5:c.682A>G, XM_006717483.4:c.682A>G, XM_006717483.3:c.682A>G, XM_006717483.2:c.682A>G, XM_006717483.1:c.682A>G, XM_011519593.4:c.460A>G, XM_011519593.3:c.460A>G, XM_011519593.2:c.460A>G, XM_011519593.1:c.460A>G, XM_011519592.4:c.472A>G, XM_011519592.3:c.472A>G, XM_011519592.2:c.472A>G, XM_011519592.1:c.472A>G, NM_153498.4:c.682A>G, NM_153498.3:c.682A>G, NM_153498.2:c.682A>G, XM_006717482.4:c.682A>G, XM_006717482.3:c.682A>G, XM_006717482.2:c.682A>G, XM_006717482.1:c.682A>G, XM_011519591.4:c.643A>G, XM_011519591.3:c.643A>G, XM_011519591.2:c.643A>G, XM_011519591.1:c.643A>G, XM_011519595.4:c.391A>G, XM_011519595.3:c.391A>G, XM_011519595.2:c.391A>G, XM_011519595.1:c.391A>G, NM_020397.4:c.682A>G, NM_020397.3:c.682A>G, NM_020397.2:c.682A>G, NM_001351032.2:c.391A>G, NM_001351032.1:c.391A>G, XM_047425537.1:c.391A>G, XP_006717546.1:p.Lys228Glu, XP_011517895.1:p.Lys154Glu, XP_011517894.1:p.Lys158Glu, NP_705718.1:p.Lys228Glu, XP_006717545.1:p.Lys228Glu, XP_011517893.1:p.Lys215Glu, XP_011517897.1:p.Lys131Glu, NP_065130.1:p.Lys228Glu, NP_001337961.1:p.Lys131Glu, XP_047281493.1:p.Lys131Glu

                        12.

                        rs1410471308 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          10:12814197 (GRCh38)
                          10:12856196 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:12814196:T:G
                          Gene:
                          CAMK1D (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.12814197T>G, NC_000010.10:g.12856196T>G, XM_006717483.5:c.644T>G, XM_006717483.4:c.644T>G, XM_006717483.3:c.644T>G, XM_006717483.2:c.644T>G, XM_006717483.1:c.644T>G, XM_011519593.4:c.422T>G, XM_011519593.3:c.422T>G, XM_011519593.2:c.422T>G, XM_011519593.1:c.422T>G, XM_011519592.4:c.434T>G, XM_011519592.3:c.434T>G, XM_011519592.2:c.434T>G, XM_011519592.1:c.434T>G, NM_153498.4:c.644T>G, NM_153498.3:c.644T>G, NM_153498.2:c.644T>G, XM_006717482.4:c.644T>G, XM_006717482.3:c.644T>G, XM_006717482.2:c.644T>G, XM_006717482.1:c.644T>G, XM_011519591.4:c.605T>G, XM_011519591.3:c.605T>G, XM_011519591.2:c.605T>G, XM_011519591.1:c.605T>G, XM_011519595.4:c.353T>G, XM_011519595.3:c.353T>G, XM_011519595.2:c.353T>G, XM_011519595.1:c.353T>G, NM_020397.4:c.644T>G, NM_020397.3:c.644T>G, NM_020397.2:c.644T>G, NM_001351032.2:c.353T>G, NM_001351032.1:c.353T>G, XM_047425537.1:c.353T>G, XP_006717546.1:p.Leu215Arg, XP_011517895.1:p.Leu141Arg, XP_011517894.1:p.Leu145Arg, NP_705718.1:p.Leu215Arg, XP_006717545.1:p.Leu215Arg, XP_011517893.1:p.Leu202Arg, XP_011517897.1:p.Leu118Arg, NP_065130.1:p.Leu215Arg, NP_001337961.1:p.Leu118Arg, XP_047281493.1:p.Leu118Arg

                          13.

                          rs1406374786 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:12825708 (GRCh38)
                            10:12867707 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:12825707:C:T
                            Gene:
                            CAMK1D (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000045/2 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000014/2 (GnomAD)
                            T=0.000015/4 (TOPMED)
                            HGVS:

                            14.

                            rs1401203311 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:12769700 (GRCh38)
                              10:12811699 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:12769699:G:A
                              Gene:
                              CAMK1D (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.12769700G>A, NC_000010.10:g.12811699G>A, XM_006717483.5:c.466G>A, XM_006717483.4:c.466G>A, XM_006717483.3:c.466G>A, XM_006717483.2:c.466G>A, XM_006717483.1:c.466G>A, XM_011519593.4:c.244G>A, XM_011519593.3:c.244G>A, XM_011519593.2:c.244G>A, XM_011519593.1:c.244G>A, XM_011519592.4:c.256G>A, XM_011519592.3:c.256G>A, XM_011519592.2:c.256G>A, XM_011519592.1:c.256G>A, NM_153498.4:c.466G>A, NM_153498.3:c.466G>A, NM_153498.2:c.466G>A, XM_006717482.4:c.466G>A, XM_006717482.3:c.466G>A, XM_006717482.2:c.466G>A, XM_006717482.1:c.466G>A, XM_011519591.4:c.427G>A, XM_011519591.3:c.427G>A, XM_011519591.2:c.427G>A, XM_011519591.1:c.427G>A, XM_011519595.4:c.175G>A, XM_011519595.3:c.175G>A, XM_011519595.2:c.175G>A, XM_011519595.1:c.175G>A, NM_020397.4:c.466G>A, NM_020397.3:c.466G>A, NM_020397.2:c.466G>A, NM_001351032.2:c.175G>A, NM_001351032.1:c.175G>A, XM_047425537.1:c.175G>A, XP_006717546.1:p.Asp156Asn, XP_011517895.1:p.Asp82Asn, XP_011517894.1:p.Asp86Asn, NP_705718.1:p.Asp156Asn, XP_006717545.1:p.Asp156Asn, XP_011517893.1:p.Asp143Asn, XP_011517897.1:p.Asp59Asn, NP_065130.1:p.Asp156Asn, NP_001337961.1:p.Asp59Asn, XP_047281493.1:p.Asp59Asn

                              15.

                              rs1390244057 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                10:12824502 (GRCh38)
                                10:12866501 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:12824501:G:A,NC_000010.11:12824501:G:T
                                Gene:
                                CAMK1D (Varview)
                                Functional Consequence:
                                missense_variant,stop_gained,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (GnomAD_exomes)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000010.11:g.12824502G>A, NC_000010.11:g.12824502G>T, NC_000010.10:g.12866501G>A, NC_000010.10:g.12866501G>T, XM_006717483.5:c.871G>A, XM_006717483.5:c.871G>T, XM_006717483.4:c.871G>A, XM_006717483.4:c.871G>T, XM_006717483.3:c.871G>A, XM_006717483.3:c.871G>T, XM_006717483.2:c.871G>A, XM_006717483.2:c.871G>T, XM_006717483.1:c.871G>A, XM_006717483.1:c.871G>T, XM_011519593.4:c.649G>A, XM_011519593.4:c.649G>T, XM_011519593.3:c.649G>A, XM_011519593.3:c.649G>T, XM_011519593.2:c.649G>A, XM_011519593.2:c.649G>T, XM_011519593.1:c.649G>A, XM_011519593.1:c.649G>T, XM_011519592.4:c.661G>A, XM_011519592.4:c.661G>T, XM_011519592.3:c.661G>A, XM_011519592.3:c.661G>T, XM_011519592.2:c.661G>A, XM_011519592.2:c.661G>T, XM_011519592.1:c.661G>A, XM_011519592.1:c.661G>T, NM_153498.4:c.871G>A, NM_153498.4:c.871G>T, NM_153498.3:c.871G>A, NM_153498.3:c.871G>T, NM_153498.2:c.871G>A, NM_153498.2:c.871G>T, XM_006717482.4:c.871G>A, XM_006717482.4:c.871G>T, XM_006717482.3:c.871G>A, XM_006717482.3:c.871G>T, XM_006717482.2:c.871G>A, XM_006717482.2:c.871G>T, XM_006717482.1:c.871G>A, XM_006717482.1:c.871G>T, XM_011519591.4:c.832G>A, XM_011519591.4:c.832G>T, XM_011519591.3:c.832G>A, XM_011519591.3:c.832G>T, XM_011519591.2:c.832G>A, XM_011519591.2:c.832G>T, XM_011519591.1:c.832G>A, XM_011519591.1:c.832G>T, XM_011519595.4:c.580G>A, XM_011519595.4:c.580G>T, XM_011519595.3:c.580G>A, XM_011519595.3:c.580G>T, XM_011519595.2:c.580G>A, XM_011519595.2:c.580G>T, XM_011519595.1:c.580G>A, XM_011519595.1:c.580G>T, NM_020397.4:c.871G>A, NM_020397.4:c.871G>T, NM_020397.3:c.871G>A, NM_020397.3:c.871G>T, NM_020397.2:c.871G>A, NM_020397.2:c.871G>T, NM_001351032.2:c.580G>A, NM_001351032.2:c.580G>T, NM_001351032.1:c.580G>A, NM_001351032.1:c.580G>T, XM_047425537.1:c.580G>A, XM_047425537.1:c.580G>T, XP_006717546.1:p.Glu291Lys, XP_006717546.1:p.Glu291Ter, XP_011517895.1:p.Glu217Lys, XP_011517895.1:p.Glu217Ter, XP_011517894.1:p.Glu221Lys, XP_011517894.1:p.Glu221Ter, NP_705718.1:p.Glu291Lys, NP_705718.1:p.Glu291Ter, XP_006717545.1:p.Glu291Lys, XP_006717545.1:p.Glu291Ter, XP_011517893.1:p.Glu278Lys, XP_011517893.1:p.Glu278Ter, XP_011517897.1:p.Glu194Lys, XP_011517897.1:p.Glu194Ter, NP_065130.1:p.Glu291Lys, NP_065130.1:p.Glu291Ter, NP_001337961.1:p.Glu194Lys, NP_001337961.1:p.Glu194Ter, XP_047281493.1:p.Glu194Lys, XP_047281493.1:p.Glu194Ter

                                16.

                                rs1381853441 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:12825588 (GRCh38)
                                  10:12867587 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:12825587:A:G
                                  Gene:
                                  CAMK1D (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.12825588A>G, NC_000010.10:g.12867587A>G, XM_006717483.5:c.937A>G, XM_006717483.4:c.937A>G, XM_006717483.3:c.937A>G, XM_006717483.2:c.937A>G, XM_006717483.1:c.937A>G, XM_011519593.4:c.715A>G, XM_011519593.3:c.715A>G, XM_011519593.2:c.715A>G, XM_011519593.1:c.715A>G, XM_011519592.4:c.727A>G, XM_011519592.3:c.727A>G, XM_011519592.2:c.727A>G, XM_011519592.1:c.727A>G, NM_153498.4:c.937A>G, NM_153498.3:c.937A>G, NM_153498.2:c.937A>G, XM_006717482.4:c.937A>G, XM_006717482.3:c.937A>G, XM_006717482.2:c.937A>G, XM_006717482.1:c.937A>G, XM_011519591.4:c.898A>G, XM_011519591.3:c.898A>G, XM_011519591.2:c.898A>G, XM_011519591.1:c.898A>G, XM_011519595.4:c.646A>G, XM_011519595.3:c.646A>G, XM_011519595.2:c.646A>G, XM_011519595.1:c.646A>G, NM_020397.4:c.937A>G, NM_020397.3:c.937A>G, NM_020397.2:c.937A>G, NM_001351032.2:c.646A>G, NM_001351032.1:c.646A>G, XM_047425537.1:c.646A>G, XP_006717546.1:p.Thr313Ala, XP_011517895.1:p.Thr239Ala, XP_011517894.1:p.Thr243Ala, NP_705718.1:p.Thr313Ala, XP_006717545.1:p.Thr313Ala, XP_011517893.1:p.Thr300Ala, XP_011517897.1:p.Thr216Ala, NP_065130.1:p.Thr313Ala, NP_001337961.1:p.Thr216Ala, XP_047281493.1:p.Thr216Ala

                                  17.

                                  rs1372773187 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:12816270 (GRCh38)
                                    10:12858269 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:12816269:C:T
                                    Gene:
                                    CAMK1D (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.12816270C>T, NC_000010.10:g.12858269C>T, XM_006717483.5:c.775C>T, XM_006717483.4:c.775C>T, XM_006717483.3:c.775C>T, XM_006717483.2:c.775C>T, XM_006717483.1:c.775C>T, XM_011519593.4:c.553C>T, XM_011519593.3:c.553C>T, XM_011519593.2:c.553C>T, XM_011519593.1:c.553C>T, XM_011519592.4:c.565C>T, XM_011519592.3:c.565C>T, XM_011519592.2:c.565C>T, XM_011519592.1:c.565C>T, NM_153498.4:c.775C>T, NM_153498.3:c.775C>T, NM_153498.2:c.775C>T, XM_006717482.4:c.775C>T, XM_006717482.3:c.775C>T, XM_006717482.2:c.775C>T, XM_006717482.1:c.775C>T, XM_011519591.4:c.736C>T, XM_011519591.3:c.736C>T, XM_011519591.2:c.736C>T, XM_011519591.1:c.736C>T, XM_011519595.4:c.484C>T, XM_011519595.3:c.484C>T, XM_011519595.2:c.484C>T, XM_011519595.1:c.484C>T, NM_020397.4:c.775C>T, NM_020397.3:c.775C>T, NM_020397.2:c.775C>T, NM_001351032.2:c.484C>T, NM_001351032.1:c.484C>T, XM_047425537.1:c.484C>T

                                    18.

                                    rs1367464554 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:12816306 (GRCh38)
                                      10:12858305 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:12816305:G:A
                                      Gene:
                                      CAMK1D (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_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_000010.11:g.12816306G>A, NC_000010.10:g.12858305G>A, XM_006717483.5:c.811G>A, XM_006717483.4:c.811G>A, XM_006717483.3:c.811G>A, XM_006717483.2:c.811G>A, XM_006717483.1:c.811G>A, XM_011519593.4:c.589G>A, XM_011519593.3:c.589G>A, XM_011519593.2:c.589G>A, XM_011519593.1:c.589G>A, XM_011519592.4:c.601G>A, XM_011519592.3:c.601G>A, XM_011519592.2:c.601G>A, XM_011519592.1:c.601G>A, NM_153498.4:c.811G>A, NM_153498.3:c.811G>A, NM_153498.2:c.811G>A, XM_006717482.4:c.811G>A, XM_006717482.3:c.811G>A, XM_006717482.2:c.811G>A, XM_006717482.1:c.811G>A, XM_011519591.4:c.772G>A, XM_011519591.3:c.772G>A, XM_011519591.2:c.772G>A, XM_011519591.1:c.772G>A, XM_011519595.4:c.520G>A, XM_011519595.3:c.520G>A, XM_011519595.2:c.520G>A, XM_011519595.1:c.520G>A, NM_020397.4:c.811G>A, NM_020397.3:c.811G>A, NM_020397.2:c.811G>A, NM_001351032.2:c.520G>A, NM_001351032.1:c.520G>A, XM_047425537.1:c.520G>A, XP_006717546.1:p.Glu271Lys, XP_011517895.1:p.Glu197Lys, XP_011517894.1:p.Glu201Lys, NP_705718.1:p.Glu271Lys, XP_006717545.1:p.Glu271Lys, XP_011517893.1:p.Glu258Lys, XP_011517897.1:p.Glu174Lys, NP_065130.1:p.Glu271Lys, NP_001337961.1:p.Glu174Lys, XP_047281493.1:p.Glu174Lys

                                      19.

                                      rs1356265269 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:12814234 (GRCh38)
                                        10:12856233 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:12814233:C:G
                                        Gene:
                                        CAMK1D (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.12814234C>G, NC_000010.10:g.12856233C>G, XM_006717483.5:c.681C>G, XM_006717483.4:c.681C>G, XM_006717483.3:c.681C>G, XM_006717483.2:c.681C>G, XM_006717483.1:c.681C>G, XM_011519593.4:c.459C>G, XM_011519593.3:c.459C>G, XM_011519593.2:c.459C>G, XM_011519593.1:c.459C>G, XM_011519592.4:c.471C>G, XM_011519592.3:c.471C>G, XM_011519592.2:c.471C>G, XM_011519592.1:c.471C>G, NM_153498.4:c.681C>G, NM_153498.3:c.681C>G, NM_153498.2:c.681C>G, XM_006717482.4:c.681C>G, XM_006717482.3:c.681C>G, XM_006717482.2:c.681C>G, XM_006717482.1:c.681C>G, XM_011519591.4:c.642C>G, XM_011519591.3:c.642C>G, XM_011519591.2:c.642C>G, XM_011519591.1:c.642C>G, XM_011519595.4:c.390C>G, XM_011519595.3:c.390C>G, XM_011519595.2:c.390C>G, XM_011519595.1:c.390C>G, NM_020397.4:c.681C>G, NM_020397.3:c.681C>G, NM_020397.2:c.681C>G, NM_001351032.2:c.390C>G, NM_001351032.1:c.390C>G, XM_047425537.1:c.390C>G

                                        20.

                                        rs1356033553 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          10:12761032 (GRCh38)
                                          10:12803031 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:12761031:C:A
                                          Gene:
                                          CAMK1D (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.12761032C>A, NC_000010.10:g.12803031C>A, XM_006717483.5:c.384C>A, XM_006717483.4:c.384C>A, XM_006717483.3:c.384C>A, XM_006717483.2:c.384C>A, XM_006717483.1:c.384C>A, XM_011519593.4:c.162C>A, XM_011519593.3:c.162C>A, XM_011519593.2:c.162C>A, XM_011519593.1:c.162C>A, XM_011519592.4:c.174C>A, XM_011519592.3:c.174C>A, XM_011519592.2:c.174C>A, XM_011519592.1:c.174C>A, NM_153498.4:c.384C>A, NM_153498.3:c.384C>A, NM_153498.2:c.384C>A, XM_006717482.4:c.384C>A, XM_006717482.3:c.384C>A, XM_006717482.2:c.384C>A, XM_006717482.1:c.384C>A, XM_011519591.4:c.345C>A, XM_011519591.3:c.345C>A, XM_011519591.2:c.345C>A, XM_011519591.1:c.345C>A, XM_011519595.4:c.93C>A, XM_011519595.3:c.93C>A, XM_011519595.2:c.93C>A, XM_011519595.1:c.93C>A, NM_020397.4:c.384C>A, NM_020397.3:c.384C>A, NM_020397.2:c.384C>A, NM_001351032.2:c.93C>A, NM_001351032.1:c.93C>A, XM_047425537.1:c.93C>A

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