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Items: 1 to 20 of 253

1.

rs1490814436 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    2:201835740 (GRCh38)
    2:202700463 (GRCh37)
    Canonical SPDI:
    NC_000002.12:201835739:A:T
    Gene:
    CDK15 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.201835740A>T, NC_000002.11:g.202700463A>T, XM_011511655.3:c.288A>T, XM_011511655.2:c.288A>T, XM_011511655.1:c.288A>T, XM_011511656.3:c.288A>T, XM_011511656.2:c.288A>T, XM_011511656.1:c.288A>T, XM_011511657.3:c.258A>T, XM_011511657.2:c.258A>T, XM_011511657.1:c.258A>T, XM_011511654.3:c.828A>T, XM_011511654.2:c.828A>T, XM_011511654.1:c.828A>T, XM_011511650.3:c.828A>T, XM_011511650.2:c.828A>T, XM_011511650.1:c.828A>T, XR_922991.3:n.956A>T, XR_922991.2:n.914A>T, XR_922991.1:n.914A>T, NM_001366386.2:c.828A>T, NM_001366386.1:c.828A>T, NM_139158.2:c.675A>T, XM_011511652.2:c.828A>T, XM_011511652.1:c.828A>T, NM_001261435.1:c.828A>T, XM_047445553.1:c.423A>T, NM_001261436.1:c.828A>T, XM_047445552.1:c.828A>T, XP_011509957.1:p.Glu96Asp, XP_011509958.1:p.Glu96Asp, XP_011509959.1:p.Glu86Asp, XP_011509956.1:p.Glu276Asp, XP_011509952.1:p.Glu276Asp, NP_001353315.1:p.Glu276Asp, NP_631897.1:p.Glu225Asp, XP_011509954.1:p.Glu276Asp, NP_001248364.1:p.Glu276Asp, XP_047301509.1:p.Glu141Asp, NP_001248365.1:p.Glu276Asp, XP_047301508.1:p.Glu276Asp

    2.

    rs1488594759 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      2:201880072 (GRCh38)
      2:202744795 (GRCh37)
      Canonical SPDI:
      NC_000002.12:201880071:T:G
      Gene:
      CDK15 (Varview)
      Functional Consequence:
      terminator_codon_variant,intron_variant,stop_lost,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000002.12:g.201880072T>G, NC_000002.11:g.202744795T>G, XM_011511655.3:c.563T>G, XM_011511655.2:c.563T>G, XM_011511655.1:c.563T>G, XM_011511656.3:c.563T>G, XM_011511656.2:c.563T>G, XM_011511656.1:c.563T>G, XM_011511657.3:c.533T>G, XM_011511657.2:c.533T>G, XM_011511657.1:c.533T>G, XM_011511650.3:c.1103T>G, XM_011511650.2:c.1103T>G, XM_011511650.1:c.1103T>G, NM_001366386.2:c.1103T>G, NM_001366386.1:c.1103T>G, NM_139158.2:c.950T>G, NM_001261435.1:c.1103T>G, XM_047445553.1:c.698T>G, NM_001261436.1:c.1103T>G, XM_047445552.1:c.1054T>G, XP_011509957.1:p.Leu188Arg, XP_011509958.1:p.Leu188Arg, XP_011509959.1:p.Leu178Arg, XP_011509952.1:p.Leu368Arg, NP_001353315.1:p.Leu368Arg, NP_631897.1:p.Leu317Arg, NP_001248364.1:p.Leu368Arg, XP_047301509.1:p.Leu233Arg, NP_001248365.1:p.Leu368Arg, XP_047301508.1:p.Ter352Glu

      3.

      rs1484105856 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:201828489 (GRCh38)
        2:202693212 (GRCh37)
        Canonical SPDI:
        NC_000002.12:201828488:G:A
        Gene:
        CDK15 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1479911782 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:201890891 (GRCh38)
          2:202755614 (GRCh37)
          Canonical SPDI:
          NC_000002.12:201890890:G:A
          Gene:
          CDK15 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1472650458 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:201835755 (GRCh38)
            2:202700478 (GRCh37)
            Canonical SPDI:
            NC_000002.12:201835754:G:A
            Gene:
            CDK15 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1472294012 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CC>- [Show Flanks]
              Chromosome:
              2:201872298 (GRCh38)
              2:202737021 (GRCh37)
              Canonical SPDI:
              NC_000002.12:201872297:CC:
              Gene:
              CDK15 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              NC_000002.12:g.201872298_201872299del, NC_000002.11:g.202737021_202737022del, XM_011511655.3:c.490_491del, XM_011511655.2:c.490_491del, XM_011511655.1:c.490_491del, XM_011511656.3:c.490_491del, XM_011511656.2:c.490_491del, XM_011511656.1:c.490_491del, XM_011511657.3:c.460_461del, XM_011511657.2:c.460_461del, XM_011511657.1:c.460_461del, XM_011511650.3:c.1030_1031del, XM_011511650.2:c.1030_1031del, XM_011511650.1:c.1030_1031del, NM_001366386.2:c.1030_1031del, NM_001366386.1:c.1030_1031del, NM_139158.2:c.877_878del, NM_001261435.1:c.1030_1031del, XM_047445553.1:c.625_626del, NM_001261436.1:c.1030_1031del, XP_011509957.1:p.Pro164fs, XP_011509958.1:p.Pro164fs, XP_011509959.1:p.Pro154fs, XP_011509952.1:p.Pro344fs, NP_001353315.1:p.Pro344fs, NP_631897.1:p.Pro293fs, NP_001248364.1:p.Pro344fs, XP_047301509.1:p.Pro209fs, NP_001248365.1:p.Pro344fs

              7.

              rs1472047870 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:201880121 (GRCh38)
                2:202744844 (GRCh37)
                Canonical SPDI:
                NC_000002.12:201880120:T:C
                Gene:
                CDK15 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000011/3 (TOPMED)
                C=0.000021/3 (GnomAD)
                HGVS:

                8.

                rs1471769325 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  2:201880164 (GRCh38)
                  2:202744887 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:201880163:G:C
                  Gene:
                  CDK15 (Varview)
                  Functional Consequence:
                  missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1470160703 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:201847442 (GRCh38)
                    2:202712165 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:201847441:A:C
                    Gene:
                    CDK15 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000047/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.201847442A>C, NC_000002.11:g.202712165A>C, XM_011511655.3:c.373A>C, XM_011511655.2:c.373A>C, XM_011511655.1:c.373A>C, XM_011511656.3:c.373A>C, XM_011511656.2:c.373A>C, XM_011511656.1:c.373A>C, XM_011511657.3:c.343A>C, XM_011511657.2:c.343A>C, XM_011511657.1:c.343A>C, XM_011511654.3:c.913A>C, XM_011511654.2:c.913A>C, XM_011511654.1:c.913A>C, XM_011511650.3:c.913A>C, XM_011511650.2:c.913A>C, XM_011511650.1:c.913A>C, XR_922991.3:n.1180A>C, XR_922991.2:n.1138A>C, XR_922991.1:n.1138A>C, NM_001366386.2:c.913A>C, NM_001366386.1:c.913A>C, NM_139158.2:c.760A>C, XM_011511652.2:c.913A>C, XM_011511652.1:c.913A>C, NM_001261435.1:c.913A>C, XM_047445553.1:c.508A>C, NM_001261436.1:c.913A>C, XM_047445552.1:c.913A>C, XP_011509957.1:p.Asn125His, XP_011509958.1:p.Asn125His, XP_011509959.1:p.Asn115His, XP_011509956.1:p.Asn305His, XP_011509952.1:p.Asn305His, NP_001353315.1:p.Asn305His, NP_631897.1:p.Asn254His, XP_011509954.1:p.Asn305His, NP_001248364.1:p.Asn305His, XP_047301509.1:p.Asn170His, NP_001248365.1:p.Asn305His, XP_047301508.1:p.Asn305His

                    10.

                    rs1469591060 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:201828494 (GRCh38)
                      2:202693217 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:201828493:A:G
                      Gene:
                      CDK15 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1454781903 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:201833945 (GRCh38)
                        2:202698668 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:201833944:T:G
                        Gene:
                        CDK15 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.201833945T>G, NC_000002.11:g.202698668T>G, XM_011511655.3:c.164T>G, XM_011511655.2:c.164T>G, XM_011511655.1:c.164T>G, XM_011511656.3:c.164T>G, XM_011511656.2:c.164T>G, XM_011511656.1:c.164T>G, XM_011511657.3:c.134T>G, XM_011511657.2:c.134T>G, XM_011511657.1:c.134T>G, XM_011511654.3:c.704T>G, XM_011511654.2:c.704T>G, XM_011511654.1:c.704T>G, XM_011511650.3:c.704T>G, XM_011511650.2:c.704T>G, XM_011511650.1:c.704T>G, XR_922991.3:n.832T>G, XR_922991.2:n.790T>G, XR_922991.1:n.790T>G, NM_001366386.2:c.704T>G, NM_001366386.1:c.704T>G, NM_139158.2:c.551T>G, XM_011511652.2:c.704T>G, XM_011511652.1:c.704T>G, NM_001261435.1:c.704T>G, XM_047445553.1:c.299T>G, NM_001261436.1:c.704T>G, XM_047445552.1:c.704T>G, XP_011509957.1:p.Leu55Arg, XP_011509958.1:p.Leu55Arg, XP_011509959.1:p.Leu45Arg, XP_011509956.1:p.Leu235Arg, XP_011509952.1:p.Leu235Arg, NP_001353315.1:p.Leu235Arg, NP_631897.1:p.Leu184Arg, XP_011509954.1:p.Leu235Arg, NP_001248364.1:p.Leu235Arg, XP_047301509.1:p.Leu100Arg, NP_001248365.1:p.Leu235Arg, XP_047301508.1:p.Leu235Arg

                        12.

                        rs1453537815 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:201890790 (GRCh38)
                          2:202755513 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:201890789:T:C
                          Gene:
                          CDK15 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1451626749 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:201854929 (GRCh38)
                            2:202719652 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:201854928:A:G
                            Gene:
                            CDK15 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.201854929A>G, NC_000002.11:g.202719652A>G, XM_011511655.3:c.461A>G, XM_011511655.2:c.461A>G, XM_011511655.1:c.461A>G, XM_011511656.3:c.461A>G, XM_011511656.2:c.461A>G, XM_011511656.1:c.461A>G, XM_011511657.3:c.431A>G, XM_011511657.2:c.431A>G, XM_011511657.1:c.431A>G, XM_011511654.3:c.1001A>G, XM_011511654.2:c.1001A>G, XM_011511654.1:c.1001A>G, XM_011511650.3:c.1001A>G, XM_011511650.2:c.1001A>G, XM_011511650.1:c.1001A>G, NM_001366386.2:c.1001A>G, NM_001366386.1:c.1001A>G, NM_139158.2:c.848A>G, XM_011511652.2:c.1001A>G, XM_011511652.1:c.1001A>G, NM_001261435.1:c.1001A>G, XM_047445553.1:c.596A>G, NM_001261436.1:c.1001A>G, XM_047445552.1:c.1001A>G, XP_011509957.1:p.Tyr154Cys, XP_011509958.1:p.Tyr154Cys, XP_011509959.1:p.Tyr144Cys, XP_011509956.1:p.Tyr334Cys, XP_011509952.1:p.Tyr334Cys, NP_001353315.1:p.Tyr334Cys, NP_631897.1:p.Tyr283Cys, XP_011509954.1:p.Tyr334Cys, NP_001248364.1:p.Tyr334Cys, XP_047301509.1:p.Tyr199Cys, NP_001248365.1:p.Tyr334Cys, XP_047301508.1:p.Tyr334Cys

                            14.

                            rs1449136461 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              2:201880144 (GRCh38)
                              2:202744867 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:201880143:C:G
                              Gene:
                              CDK15 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1437701772 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:201828478 (GRCh38)
                                2:202693201 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:201828477:A:G
                                Gene:
                                CDK15 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1431543272 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  2:201880036 (GRCh38)
                                  2:202744759 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:201880035:GGG:GG
                                  Gene:
                                  CDK15 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0.000071/1 (ALFA)
                                  -=0.000008/2 (GnomAD_exomes)
                                  -=0.000014/2 (GnomAD)
                                  -=0.000019/5 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.201880038del, NC_000002.11:g.202744761del, XM_011511655.3:c.529del, XM_011511655.2:c.529del, XM_011511655.1:c.529del, XM_011511656.3:c.529del, XM_011511656.2:c.529del, XM_011511656.1:c.529del, XM_011511657.3:c.499del, XM_011511657.2:c.499del, XM_011511657.1:c.499del, XM_011511650.3:c.1069del, XM_011511650.2:c.1069del, XM_011511650.1:c.1069del, NM_001366386.2:c.1069del, NM_001366386.1:c.1069del, NM_139158.2:c.916del, NM_001261435.1:c.1069del, XM_047445553.1:c.664del, NM_001261436.1:c.1069del, XM_047445552.1:c.1020del, XP_011509957.1:p.Val177fs, XP_011509958.1:p.Val177fs, XP_011509959.1:p.Val167fs, XP_011509952.1:p.Val357fs, NP_001353315.1:p.Val357fs, NP_631897.1:p.Val306fs, NP_001248364.1:p.Val357fs, XP_047301509.1:p.Val222fs, NP_001248365.1:p.Val357fs, XP_047301508.1:p.Phe341fs

                                  17.

                                  rs1431388342 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:201833947 (GRCh38)
                                    2:202698670 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:201833946:G:A
                                    Gene:
                                    CDK15 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_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_000002.12:g.201833947G>A, NC_000002.11:g.202698670G>A, XM_011511655.3:c.166G>A, XM_011511655.2:c.166G>A, XM_011511655.1:c.166G>A, XM_011511656.3:c.166G>A, XM_011511656.2:c.166G>A, XM_011511656.1:c.166G>A, XM_011511657.3:c.136G>A, XM_011511657.2:c.136G>A, XM_011511657.1:c.136G>A, XM_011511654.3:c.706G>A, XM_011511654.2:c.706G>A, XM_011511654.1:c.706G>A, XM_011511650.3:c.706G>A, XM_011511650.2:c.706G>A, XM_011511650.1:c.706G>A, XR_922991.3:n.834G>A, XR_922991.2:n.792G>A, XR_922991.1:n.792G>A, NM_001366386.2:c.706G>A, NM_001366386.1:c.706G>A, NM_139158.2:c.553G>A, XM_011511652.2:c.706G>A, XM_011511652.1:c.706G>A, NM_001261435.1:c.706G>A, XM_047445553.1:c.301G>A, NM_001261436.1:c.706G>A, XM_047445552.1:c.706G>A, XP_011509957.1:p.Gly56Arg, XP_011509958.1:p.Gly56Arg, XP_011509959.1:p.Gly46Arg, XP_011509956.1:p.Gly236Arg, XP_011509952.1:p.Gly236Arg, NP_001353315.1:p.Gly236Arg, NP_631897.1:p.Gly185Arg, XP_011509954.1:p.Gly236Arg, NP_001248364.1:p.Gly236Arg, XP_047301509.1:p.Gly101Arg, NP_001248365.1:p.Gly236Arg, XP_047301508.1:p.Gly236Arg

                                    18.

                                    rs1429884522 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      2:201890823 (GRCh38)
                                      2:202755546 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:201890822:C:G,NC_000002.12:201890822:C:T
                                      Gene:
                                      CDK15 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000031/1 (ALFA)
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.201890823C>G, NC_000002.12:g.201890823C>T, NC_000002.11:g.202755546C>G, NC_000002.11:g.202755546C>T, XM_011511655.3:c.697C>G, XM_011511655.3:c.697C>T, XM_011511655.2:c.697C>G, XM_011511655.2:c.697C>T, XM_011511655.1:c.697C>G, XM_011511655.1:c.697C>T, XM_011511656.3:c.697C>G, XM_011511656.3:c.697C>T, XM_011511656.2:c.697C>G, XM_011511656.2:c.697C>T, XM_011511656.1:c.697C>G, XM_011511656.1:c.697C>T, XM_011511657.3:c.667C>G, XM_011511657.3:c.667C>T, XM_011511657.2:c.667C>G, XM_011511657.2:c.667C>T, XM_011511657.1:c.667C>G, XM_011511657.1:c.667C>T, NM_001366386.2:c.1237C>G, NM_001366386.2:c.1237C>T, NM_001366386.1:c.1237C>G, NM_001366386.1:c.1237C>T, NM_139158.2:c.1084C>G, NM_139158.2:c.1084C>T, XM_011511652.2:c.1048C>G, XM_011511652.2:c.1048C>T, XM_011511652.1:c.1048C>G, XM_011511652.1:c.1048C>T, NM_001261435.1:c.1219C>G, NM_001261435.1:c.1219C>T, XM_047445553.1:c.832C>G, XM_047445553.1:c.832C>T, XP_011509957.1:p.Pro233Ala, XP_011509957.1:p.Pro233Ser, XP_011509958.1:p.Pro233Ala, XP_011509958.1:p.Pro233Ser, XP_011509959.1:p.Pro223Ala, XP_011509959.1:p.Pro223Ser, NP_001353315.1:p.Pro413Ala, NP_001353315.1:p.Pro413Ser, NP_631897.1:p.Pro362Ala, NP_631897.1:p.Pro362Ser, XP_011509954.1:p.Pro350Ala, XP_011509954.1:p.Pro350Ser, NP_001248364.1:p.Pro407Ala, NP_001248364.1:p.Pro407Ser, XP_047301509.1:p.Pro278Ala, XP_047301509.1:p.Pro278Ser

                                      19.

                                      rs1429753554 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:201847413 (GRCh38)
                                        2:202712136 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:201847412:A:G
                                        Gene:
                                        CDK15 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.201847413A>G, NC_000002.11:g.202712136A>G, XM_011511655.3:c.344A>G, XM_011511655.2:c.344A>G, XM_011511655.1:c.344A>G, XM_011511656.3:c.344A>G, XM_011511656.2:c.344A>G, XM_011511656.1:c.344A>G, XM_011511657.3:c.314A>G, XM_011511657.2:c.314A>G, XM_011511657.1:c.314A>G, XM_011511654.3:c.884A>G, XM_011511654.2:c.884A>G, XM_011511654.1:c.884A>G, XM_011511650.3:c.884A>G, XM_011511650.2:c.884A>G, XM_011511650.1:c.884A>G, XR_922991.3:n.1151A>G, XR_922991.2:n.1109A>G, XR_922991.1:n.1109A>G, NM_001366386.2:c.884A>G, NM_001366386.1:c.884A>G, NM_139158.2:c.731A>G, XM_011511652.2:c.884A>G, XM_011511652.1:c.884A>G, NM_001261435.1:c.884A>G, XM_047445553.1:c.479A>G, NM_001261436.1:c.884A>G, XM_047445552.1:c.884A>G, XP_011509957.1:p.Gln115Arg, XP_011509958.1:p.Gln115Arg, XP_011509959.1:p.Gln105Arg, XP_011509956.1:p.Gln295Arg, XP_011509952.1:p.Gln295Arg, NP_001353315.1:p.Gln295Arg, NP_631897.1:p.Gln244Arg, XP_011509954.1:p.Gln295Arg, NP_001248364.1:p.Gln295Arg, XP_047301509.1:p.Gln160Arg, NP_001248365.1:p.Gln295Arg, XP_047301508.1:p.Gln295Arg

                                        20.

                                        rs1423036415 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          2:201833930 (GRCh38)
                                          2:202698654 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:201833930:A:AA
                                          Gene:
                                          CDK15 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.001092/2 (Korea1K)
                                          HGVS:
                                          NC_000002.12:g.201833931dup, NC_000002.11:g.202698654dup, XM_011511655.3:c.150dup, XM_011511655.2:c.150dup, XM_011511655.1:c.150dup, XM_011511656.3:c.150dup, XM_011511656.2:c.150dup, XM_011511656.1:c.150dup, XM_011511657.3:c.120dup, XM_011511657.2:c.120dup, XM_011511657.1:c.120dup, XM_011511654.3:c.690dup, XM_011511654.2:c.690dup, XM_011511654.1:c.690dup, XM_011511650.3:c.690dup, XM_011511650.2:c.690dup, XM_011511650.1:c.690dup, XR_922991.3:n.818dup, XR_922991.2:n.776dup, XR_922991.1:n.776dup, NM_001366386.2:c.690dup, NM_001366386.1:c.690dup, NM_139158.2:c.537dup, XM_011511652.2:c.690dup, XM_011511652.1:c.690dup, NM_001261435.1:c.690dup, XM_047445553.1:c.285dup, NM_001261436.1:c.690dup, XM_047445552.1:c.690dup, XP_011509957.1:p.Leu51fs, XP_011509958.1:p.Leu51fs, XP_011509959.1:p.Leu41fs, XP_011509956.1:p.Leu231fs, XP_011509952.1:p.Leu231fs, NP_001353315.1:p.Leu231fs, NP_631897.1:p.Leu180fs, XP_011509954.1:p.Leu231fs, NP_001248364.1:p.Leu231fs, XP_047301509.1:p.Leu96fs, NP_001248365.1:p.Leu231fs, XP_047301508.1:p.Leu231fs

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