U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 566

1.

rs1490829267 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    6:53032577 (GRCh38)
    6:52897375 (GRCh37)
    Canonical SPDI:
    NC_000006.12:53032576:G:T
    Gene:
    CILK1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000066/1 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000223/1 (Estonian)
    HGVS:

    2.

    rs1487371766 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:53041177 (GRCh38)
      6:52905975 (GRCh37)
      Canonical SPDI:
      NC_000006.12:53041176:C:T
      Gene:
      CILK1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1486425843 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:53011825 (GRCh38)
        6:52876623 (GRCh37)
        Canonical SPDI:
        NC_000006.12:53011824:G:A
        Gene:
        CILK1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000111/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.53011825G>A, NC_000006.11:g.52876623G>A, NG_012159.2:g.54978C>T, NM_016513.5:c.1436C>T, NM_016513.4:c.1436C>T, NM_014920.5:c.1436C>T, NM_014920.4:c.1436C>T, NM_014920.3:c.1436C>T, NM_001375398.1:c.1436C>T, NM_001375399.1:c.1436C>T, NM_001375402.1:c.1436C>T, NM_001375401.1:c.1436C>T, NM_001375400.1:c.1436C>T, NR_164684.1:n.1837C>T, NM_001375397.1:c.1457C>T, XM_011514420.3:c.1457C>T, XM_011514420.2:c.1457C>T, XM_011514420.1:c.1457C>T, XM_017010485.2:c.1457C>T, XM_017010485.1:c.1457C>T, XM_017010487.2:c.1457C>T, XM_017010487.1:c.1457C>T, XM_011514421.2:c.1457C>T, XM_011514421.1:c.1457C>T, XM_047418396.1:c.1436C>T, XM_047418394.1:c.1457C>T, XM_047418392.1:c.1457C>T, XM_047418395.1:c.1436C>T, XM_047418393.1:c.1457C>T, NP_057597.2:p.Pro479Leu, NP_055735.1:p.Pro479Leu, NP_001362327.1:p.Pro479Leu, NP_001362328.1:p.Pro479Leu, NP_001362331.1:p.Pro479Leu, NP_001362330.1:p.Pro479Leu, NP_001362329.1:p.Pro479Leu, NP_001362326.1:p.Pro486Leu, XP_011512722.1:p.Pro486Leu, XP_016865974.1:p.Pro486Leu, XP_016865976.1:p.Pro486Leu, XP_011512723.1:p.Pro486Leu, XP_047274352.1:p.Pro479Leu, XP_047274350.1:p.Pro486Leu, XP_047274348.1:p.Pro486Leu, XP_047274351.1:p.Pro479Leu, XP_047274349.1:p.Pro486Leu

        4.

        rs1484452316 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:53013946 (GRCh38)
          6:52878744 (GRCh37)
          Canonical SPDI:
          NC_000006.12:53013945:G:A
          Gene:
          CILK1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1482486960 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            6:53019286 (GRCh38)
            6:52884084 (GRCh37)
            Canonical SPDI:
            NC_000006.12:53019285:A:C,NC_000006.12:53019285:A:G
            Gene:
            CILK1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000006.12:g.53019286A>C, NC_000006.12:g.53019286A>G, NC_000006.11:g.52884084A>C, NC_000006.11:g.52884084A>G, NG_012159.2:g.47517T>G, NG_012159.2:g.47517T>C, NM_016513.5:c.432T>G, NM_016513.5:c.432T>C, NM_016513.4:c.432T>G, NM_016513.4:c.432T>C, NM_014920.5:c.432T>G, NM_014920.5:c.432T>C, NM_014920.4:c.432T>G, NM_014920.4:c.432T>C, NM_014920.3:c.432T>G, NM_014920.3:c.432T>C, NM_001375398.1:c.432T>G, NM_001375398.1:c.432T>C, NM_001375399.1:c.432T>G, NM_001375399.1:c.432T>C, NM_001375402.1:c.432T>G, NM_001375402.1:c.432T>C, NM_001375401.1:c.432T>G, NM_001375401.1:c.432T>C, NM_001375400.1:c.432T>G, NM_001375400.1:c.432T>C, NR_164684.1:n.833T>G, NR_164684.1:n.833T>C, NM_001375397.1:c.432T>G, NM_001375397.1:c.432T>C, XM_011514420.3:c.432T>G, XM_011514420.3:c.432T>C, XM_011514420.2:c.432T>G, XM_011514420.2:c.432T>C, XM_011514420.1:c.432T>G, XM_011514420.1:c.432T>C, XM_017010485.2:c.432T>G, XM_017010485.2:c.432T>C, XM_017010485.1:c.432T>G, XM_017010485.1:c.432T>C, XM_017010487.2:c.432T>G, XM_017010487.2:c.432T>C, XM_017010487.1:c.432T>G, XM_017010487.1:c.432T>C, XM_011514421.2:c.432T>G, XM_011514421.2:c.432T>C, XM_011514421.1:c.432T>G, XM_011514421.1:c.432T>C, XM_047418396.1:c.432T>G, XM_047418396.1:c.432T>C, XM_047418394.1:c.432T>G, XM_047418394.1:c.432T>C, XM_047418392.1:c.432T>G, XM_047418392.1:c.432T>C, XM_047418395.1:c.432T>G, XM_047418395.1:c.432T>C, XM_047418393.1:c.432T>G, XM_047418393.1:c.432T>C, NM_173041.1:c.432T>G, NM_173041.1:c.432T>C, NP_057597.2:p.Phe144Leu, NP_055735.1:p.Phe144Leu, NP_001362327.1:p.Phe144Leu, NP_001362328.1:p.Phe144Leu, NP_001362331.1:p.Phe144Leu, NP_001362330.1:p.Phe144Leu, NP_001362329.1:p.Phe144Leu, NP_001362326.1:p.Phe144Leu, XP_011512722.1:p.Phe144Leu, XP_016865974.1:p.Phe144Leu, XP_016865976.1:p.Phe144Leu, XP_011512723.1:p.Phe144Leu, XP_047274352.1:p.Phe144Leu, XP_047274350.1:p.Phe144Leu, XP_047274348.1:p.Phe144Leu, XP_047274351.1:p.Phe144Leu, XP_047274349.1:p.Phe144Leu

            6.

            rs1482268900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:53005164 (GRCh38)
              6:52869962 (GRCh37)
              Canonical SPDI:
              NC_000006.12:53005163:G:A
              Gene:
              CILK1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1480195121 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                6:53011831 (GRCh38)
                6:52876629 (GRCh37)
                Canonical SPDI:
                NC_000006.12:53011830:T:A
                Gene:
                CILK1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                A=0.000011/3 (TOPMED)
                HGVS:
                NC_000006.12:g.53011831T>A, NC_000006.11:g.52876629T>A, NG_012159.2:g.54972A>T, NM_016513.5:c.1430A>T, NM_016513.4:c.1430A>T, NM_014920.5:c.1430A>T, NM_014920.4:c.1430A>T, NM_014920.3:c.1430A>T, NM_001375398.1:c.1430A>T, NM_001375399.1:c.1430A>T, NM_001375402.1:c.1430A>T, NM_001375401.1:c.1430A>T, NM_001375400.1:c.1430A>T, NR_164684.1:n.1831A>T, NM_001375397.1:c.1451A>T, XM_011514420.3:c.1451A>T, XM_011514420.2:c.1451A>T, XM_011514420.1:c.1451A>T, XM_017010485.2:c.1451A>T, XM_017010485.1:c.1451A>T, XM_017010487.2:c.1451A>T, XM_017010487.1:c.1451A>T, XM_011514421.2:c.1451A>T, XM_011514421.1:c.1451A>T, XM_047418396.1:c.1430A>T, XM_047418394.1:c.1451A>T, XM_047418392.1:c.1451A>T, XM_047418395.1:c.1430A>T, XM_047418393.1:c.1451A>T, NP_057597.2:p.Asp477Val, NP_055735.1:p.Asp477Val, NP_001362327.1:p.Asp477Val, NP_001362328.1:p.Asp477Val, NP_001362331.1:p.Asp477Val, NP_001362330.1:p.Asp477Val, NP_001362329.1:p.Asp477Val, NP_001362326.1:p.Asp484Val, XP_011512722.1:p.Asp484Val, XP_016865974.1:p.Asp484Val, XP_016865976.1:p.Asp484Val, XP_011512723.1:p.Asp484Val, XP_047274352.1:p.Asp477Val, XP_047274350.1:p.Asp484Val, XP_047274348.1:p.Asp484Val, XP_047274351.1:p.Asp477Val, XP_047274349.1:p.Asp484Val

                8.

                rs1478579468 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:53037975 (GRCh38)
                  6:52902773 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:53037974:A:G
                  Gene:
                  CILK1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0./0 (GnomAD)
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1474941195 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:53012156 (GRCh38)
                    6:52876954 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:53012155:A:G
                    Gene:
                    CILK1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1472952242 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      6:53032567 (GRCh38)
                      6:52897365 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:53032566:T:G
                      Gene:
                      CILK1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.53032567T>G, NC_000006.11:g.52897365T>G, NG_012159.2:g.34236A>C, NM_016513.5:c.244A>C, NM_016513.4:c.244A>C, NM_014920.5:c.244A>C, NM_014920.4:c.244A>C, NM_014920.3:c.244A>C, NM_001375398.1:c.244A>C, NM_001375399.1:c.244A>C, NM_001375402.1:c.244A>C, NM_001375401.1:c.244A>C, NM_001375400.1:c.244A>C, NR_164684.1:n.645A>C, NM_001375397.1:c.244A>C, XM_011514420.3:c.244A>C, XM_011514420.2:c.244A>C, XM_011514420.1:c.244A>C, XM_017010485.2:c.244A>C, XM_017010485.1:c.244A>C, XM_017010487.2:c.244A>C, XM_017010487.1:c.244A>C, XM_011514421.2:c.244A>C, XM_011514421.1:c.244A>C, XM_047418396.1:c.244A>C, XM_047418394.1:c.244A>C, XM_047418392.1:c.244A>C, XM_047418395.1:c.244A>C, XM_047418393.1:c.244A>C, NM_173041.1:c.244A>C, NP_057597.2:p.Met82Leu, NP_055735.1:p.Met82Leu, NP_001362327.1:p.Met82Leu, NP_001362328.1:p.Met82Leu, NP_001362331.1:p.Met82Leu, NP_001362330.1:p.Met82Leu, NP_001362329.1:p.Met82Leu, NP_001362326.1:p.Met82Leu, XP_011512722.1:p.Met82Leu, XP_016865974.1:p.Met82Leu, XP_016865976.1:p.Met82Leu, XP_011512723.1:p.Met82Leu, XP_047274352.1:p.Met82Leu, XP_047274350.1:p.Met82Leu, XP_047274348.1:p.Met82Leu, XP_047274351.1:p.Met82Leu, XP_047274349.1:p.Met82Leu

                      11.

                      rs1472462652 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:53013801 (GRCh38)
                        6:52878599 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:53013800:T:C
                        Gene:
                        CILK1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000006.12:g.53013801T>C, NC_000006.11:g.52878599T>C, NG_012159.2:g.53002A>G, NM_016513.5:c.1013A>G, NM_016513.4:c.1013A>G, NM_014920.5:c.1013A>G, NM_014920.4:c.1013A>G, NM_014920.3:c.1013A>G, NM_001375398.1:c.1013A>G, NM_001375399.1:c.1013A>G, NM_001375402.1:c.1013A>G, NM_001375401.1:c.1013A>G, NM_001375400.1:c.1013A>G, NR_164684.1:n.1414A>G, NM_001375397.1:c.1013A>G, XM_011514420.3:c.1013A>G, XM_011514420.2:c.1013A>G, XM_011514420.1:c.1013A>G, XM_017010485.2:c.1013A>G, XM_017010485.1:c.1013A>G, XM_017010487.2:c.1013A>G, XM_017010487.1:c.1013A>G, XM_011514421.2:c.1013A>G, XM_011514421.1:c.1013A>G, XM_047418396.1:c.1013A>G, XM_047418394.1:c.1013A>G, XM_047418392.1:c.1013A>G, XM_047418395.1:c.1013A>G, XM_047418393.1:c.1013A>G, NP_057597.2:p.His338Arg, NP_055735.1:p.His338Arg, NP_001362327.1:p.His338Arg, NP_001362328.1:p.His338Arg, NP_001362331.1:p.His338Arg, NP_001362330.1:p.His338Arg, NP_001362329.1:p.His338Arg, NP_001362326.1:p.His338Arg, XP_011512722.1:p.His338Arg, XP_016865974.1:p.His338Arg, XP_016865976.1:p.His338Arg, XP_011512723.1:p.His338Arg, XP_047274352.1:p.His338Arg, XP_047274350.1:p.His338Arg, XP_047274348.1:p.His338Arg, XP_047274351.1:p.His338Arg, XP_047274349.1:p.His338Arg

                        12.

                        rs1466216318 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:53013868 (GRCh38)
                          6:52878666 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:53013867:A:G
                          Gene:
                          CILK1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.53013868A>G, NC_000006.11:g.52878666A>G, NG_012159.2:g.52935T>C, NM_016513.5:c.946T>C, NM_016513.4:c.946T>C, NM_014920.5:c.946T>C, NM_014920.4:c.946T>C, NM_014920.3:c.946T>C, NM_001375398.1:c.946T>C, NM_001375399.1:c.946T>C, NM_001375402.1:c.946T>C, NM_001375401.1:c.946T>C, NM_001375400.1:c.946T>C, NR_164684.1:n.1347T>C, NM_001375397.1:c.946T>C, XM_011514420.3:c.946T>C, XM_011514420.2:c.946T>C, XM_011514420.1:c.946T>C, XM_017010485.2:c.946T>C, XM_017010485.1:c.946T>C, XM_017010487.2:c.946T>C, XM_017010487.1:c.946T>C, XM_011514421.2:c.946T>C, XM_011514421.1:c.946T>C, XM_047418396.1:c.946T>C, XM_047418394.1:c.946T>C, XM_047418392.1:c.946T>C, XM_047418395.1:c.946T>C, XM_047418393.1:c.946T>C, NP_057597.2:p.Tyr316His, NP_055735.1:p.Tyr316His, NP_001362327.1:p.Tyr316His, NP_001362328.1:p.Tyr316His, NP_001362331.1:p.Tyr316His, NP_001362330.1:p.Tyr316His, NP_001362329.1:p.Tyr316His, NP_001362326.1:p.Tyr316His, XP_011512722.1:p.Tyr316His, XP_016865974.1:p.Tyr316His, XP_016865976.1:p.Tyr316His, XP_011512723.1:p.Tyr316His, XP_047274352.1:p.Tyr316His, XP_047274350.1:p.Tyr316His, XP_047274348.1:p.Tyr316His, XP_047274351.1:p.Tyr316His, XP_047274349.1:p.Tyr316His

                          13.

                          rs1461807973 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            6:53012215 (GRCh38)
                            6:52877013 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:53012214:C:A
                            Gene:
                            CILK1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.53012215C>A, NC_000006.11:g.52877013C>A, NG_012159.2:g.54588G>T, NM_016513.5:c.1165G>T, NM_016513.4:c.1165G>T, NM_014920.5:c.1165G>T, NM_014920.4:c.1165G>T, NM_014920.3:c.1165G>T, NM_001375398.1:c.1165G>T, NM_001375399.1:c.1165G>T, NM_001375402.1:c.1165G>T, NM_001375401.1:c.1165G>T, NM_001375400.1:c.1165G>T, NR_164684.1:n.1566G>T, NM_001375397.1:c.1186G>T, XM_011514420.3:c.1186G>T, XM_011514420.2:c.1186G>T, XM_011514420.1:c.1186G>T, XM_017010485.2:c.1186G>T, XM_017010485.1:c.1186G>T, XM_017010487.2:c.1186G>T, XM_017010487.1:c.1186G>T, XM_011514421.2:c.1186G>T, XM_011514421.1:c.1186G>T, XM_047418396.1:c.1165G>T, XM_047418394.1:c.1186G>T, XM_047418392.1:c.1186G>T, XM_047418395.1:c.1165G>T, XM_047418393.1:c.1186G>T, NP_057597.2:p.Gly389Cys, NP_055735.1:p.Gly389Cys, NP_001362327.1:p.Gly389Cys, NP_001362328.1:p.Gly389Cys, NP_001362331.1:p.Gly389Cys, NP_001362330.1:p.Gly389Cys, NP_001362329.1:p.Gly389Cys, NP_001362326.1:p.Gly396Cys, XP_011512722.1:p.Gly396Cys, XP_016865974.1:p.Gly396Cys, XP_016865976.1:p.Gly396Cys, XP_011512723.1:p.Gly396Cys, XP_047274352.1:p.Gly389Cys, XP_047274350.1:p.Gly396Cys, XP_047274348.1:p.Gly396Cys, XP_047274351.1:p.Gly389Cys, XP_047274349.1:p.Gly396Cys

                            14.

                            rs1451965521 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:53009530 (GRCh38)
                              6:52874328 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:53009529:G:A
                              Gene:
                              CILK1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1451887995 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                6:53013879 (GRCh38)
                                6:52878677 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:53013878:C:A
                                Gene:
                                CILK1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.53013879C>A, NC_000006.11:g.52878677C>A, NG_012159.2:g.52924G>T, NM_016513.5:c.935G>T, NM_016513.4:c.935G>T, NM_014920.5:c.935G>T, NM_014920.4:c.935G>T, NM_014920.3:c.935G>T, NM_001375398.1:c.935G>T, NM_001375399.1:c.935G>T, NM_001375402.1:c.935G>T, NM_001375401.1:c.935G>T, NM_001375400.1:c.935G>T, NR_164684.1:n.1336G>T, NM_001375397.1:c.935G>T, XM_011514420.3:c.935G>T, XM_011514420.2:c.935G>T, XM_011514420.1:c.935G>T, XM_017010485.2:c.935G>T, XM_017010485.1:c.935G>T, XM_017010487.2:c.935G>T, XM_017010487.1:c.935G>T, XM_011514421.2:c.935G>T, XM_011514421.1:c.935G>T, XM_047418396.1:c.935G>T, XM_047418394.1:c.935G>T, XM_047418392.1:c.935G>T, XM_047418395.1:c.935G>T, XM_047418393.1:c.935G>T, NP_057597.2:p.Gly312Val, NP_055735.1:p.Gly312Val, NP_001362327.1:p.Gly312Val, NP_001362328.1:p.Gly312Val, NP_001362331.1:p.Gly312Val, NP_001362330.1:p.Gly312Val, NP_001362329.1:p.Gly312Val, NP_001362326.1:p.Gly312Val, XP_011512722.1:p.Gly312Val, XP_016865974.1:p.Gly312Val, XP_016865976.1:p.Gly312Val, XP_011512723.1:p.Gly312Val, XP_047274352.1:p.Gly312Val, XP_047274350.1:p.Gly312Val, XP_047274348.1:p.Gly312Val, XP_047274351.1:p.Gly312Val, XP_047274349.1:p.Gly312Val

                                16.

                                rs1449080271 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  6:53032618 (GRCh38)
                                  6:52897416 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:53032617:A:T
                                  Gene:
                                  CILK1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000006.12:g.53032618A>T, NC_000006.11:g.52897416A>T, NG_012159.2:g.34185T>A, NM_016513.5:c.193T>A, NM_016513.4:c.193T>A, NM_014920.5:c.193T>A, NM_014920.4:c.193T>A, NM_014920.3:c.193T>A, NM_001375398.1:c.193T>A, NM_001375399.1:c.193T>A, NM_001375402.1:c.193T>A, NM_001375401.1:c.193T>A, NM_001375400.1:c.193T>A, NR_164684.1:n.594T>A, NM_001375397.1:c.193T>A, XM_011514420.3:c.193T>A, XM_011514420.2:c.193T>A, XM_011514420.1:c.193T>A, XM_017010485.2:c.193T>A, XM_017010485.1:c.193T>A, XM_017010487.2:c.193T>A, XM_017010487.1:c.193T>A, XM_011514421.2:c.193T>A, XM_011514421.1:c.193T>A, XM_047418396.1:c.193T>A, XM_047418394.1:c.193T>A, XM_047418392.1:c.193T>A, XM_047418395.1:c.193T>A, XM_047418393.1:c.193T>A, NM_173041.1:c.193T>A, NP_057597.2:p.Leu65Ile, NP_055735.1:p.Leu65Ile, NP_001362327.1:p.Leu65Ile, NP_001362328.1:p.Leu65Ile, NP_001362331.1:p.Leu65Ile, NP_001362330.1:p.Leu65Ile, NP_001362329.1:p.Leu65Ile, NP_001362326.1:p.Leu65Ile, XP_011512722.1:p.Leu65Ile, XP_016865974.1:p.Leu65Ile, XP_016865976.1:p.Leu65Ile, XP_011512723.1:p.Leu65Ile, XP_047274352.1:p.Leu65Ile, XP_047274350.1:p.Leu65Ile, XP_047274348.1:p.Leu65Ile, XP_047274351.1:p.Leu65Ile, XP_047274349.1:p.Leu65Ile

                                  17.

                                  rs1448681289 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:53019293 (GRCh38)
                                    6:52884091 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:53019292:G:A
                                    Gene:
                                    CILK1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_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_000006.12:g.53019293G>A, NC_000006.11:g.52884091G>A, NG_012159.2:g.47510C>T, NM_016513.5:c.425C>T, NM_016513.4:c.425C>T, NM_014920.5:c.425C>T, NM_014920.4:c.425C>T, NM_014920.3:c.425C>T, NM_001375398.1:c.425C>T, NM_001375399.1:c.425C>T, NM_001375402.1:c.425C>T, NM_001375401.1:c.425C>T, NM_001375400.1:c.425C>T, NR_164684.1:n.826C>T, NM_001375397.1:c.425C>T, XM_011514420.3:c.425C>T, XM_011514420.2:c.425C>T, XM_011514420.1:c.425C>T, XM_017010485.2:c.425C>T, XM_017010485.1:c.425C>T, XM_017010487.2:c.425C>T, XM_017010487.1:c.425C>T, XM_011514421.2:c.425C>T, XM_011514421.1:c.425C>T, XM_047418396.1:c.425C>T, XM_047418394.1:c.425C>T, XM_047418392.1:c.425C>T, XM_047418395.1:c.425C>T, XM_047418393.1:c.425C>T, NM_173041.1:c.425C>T, NP_057597.2:p.Ala142Val, NP_055735.1:p.Ala142Val, NP_001362327.1:p.Ala142Val, NP_001362328.1:p.Ala142Val, NP_001362331.1:p.Ala142Val, NP_001362330.1:p.Ala142Val, NP_001362329.1:p.Ala142Val, NP_001362326.1:p.Ala142Val, XP_011512722.1:p.Ala142Val, XP_016865974.1:p.Ala142Val, XP_016865976.1:p.Ala142Val, XP_011512723.1:p.Ala142Val, XP_047274352.1:p.Ala142Val, XP_047274350.1:p.Ala142Val, XP_047274348.1:p.Ala142Val, XP_047274351.1:p.Ala142Val, XP_047274349.1:p.Ala142Val

                                    18.

                                    rs1447479896 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:53019228 (GRCh38)
                                      6:52884026 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:53019227:A:G
                                      Gene:
                                      CILK1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.53019228A>G, NC_000006.11:g.52884026A>G, NG_012159.2:g.47575T>C, NM_016513.5:c.490T>C, NM_016513.4:c.490T>C, NM_014920.5:c.490T>C, NM_014920.4:c.490T>C, NM_014920.3:c.490T>C, NM_001375398.1:c.490T>C, NM_001375399.1:c.490T>C, NM_001375402.1:c.490T>C, NM_001375401.1:c.490T>C, NM_001375400.1:c.490T>C, NR_164684.1:n.891T>C, NM_001375397.1:c.490T>C, XM_011514420.3:c.490T>C, XM_011514420.2:c.490T>C, XM_011514420.1:c.490T>C, XM_017010485.2:c.490T>C, XM_017010485.1:c.490T>C, XM_017010487.2:c.490T>C, XM_017010487.1:c.490T>C, XM_011514421.2:c.490T>C, XM_011514421.1:c.490T>C, XM_047418396.1:c.490T>C, XM_047418394.1:c.490T>C, XM_047418392.1:c.490T>C, XM_047418395.1:c.490T>C, XM_047418393.1:c.490T>C, NM_173041.1:c.490T>C, NP_057597.2:p.Trp164Arg, NP_055735.1:p.Trp164Arg, NP_001362327.1:p.Trp164Arg, NP_001362328.1:p.Trp164Arg, NP_001362331.1:p.Trp164Arg, NP_001362330.1:p.Trp164Arg, NP_001362329.1:p.Trp164Arg, NP_001362326.1:p.Trp164Arg, XP_011512722.1:p.Trp164Arg, XP_016865974.1:p.Trp164Arg, XP_016865976.1:p.Trp164Arg, XP_011512723.1:p.Trp164Arg, XP_047274352.1:p.Trp164Arg, XP_047274350.1:p.Trp164Arg, XP_047274348.1:p.Trp164Arg, XP_047274351.1:p.Trp164Arg, XP_047274349.1:p.Trp164Arg

                                      19.

                                      rs1447163434 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:53041171 (GRCh38)
                                        6:52905969 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:53041170:T:C
                                        Gene:
                                        CILK1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1446259833 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:53018361 (GRCh38)
                                          6:52883159 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:53018360:T:C
                                          Gene:
                                          CILK1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.53018361T>C, NC_000006.11:g.52883159T>C, NG_012159.2:g.48442A>G, NM_016513.5:c.632A>G, NM_016513.4:c.632A>G, NM_014920.5:c.632A>G, NM_014920.4:c.632A>G, NM_014920.3:c.632A>G, NM_001375398.1:c.632A>G, NM_001375399.1:c.632A>G, NM_001375402.1:c.632A>G, NM_001375401.1:c.632A>G, NM_001375400.1:c.632A>G, NR_164684.1:n.1033A>G, NM_001375397.1:c.632A>G, XM_011514420.3:c.632A>G, XM_011514420.2:c.632A>G, XM_011514420.1:c.632A>G, XM_017010485.2:c.632A>G, XM_017010485.1:c.632A>G, XM_017010487.2:c.632A>G, XM_017010487.1:c.632A>G, XM_011514421.2:c.632A>G, XM_011514421.1:c.632A>G, XM_047418396.1:c.632A>G, XM_047418394.1:c.632A>G, XM_047418392.1:c.632A>G, XM_047418395.1:c.632A>G, XM_047418393.1:c.632A>G, NM_173041.1:c.632A>G, NP_057597.2:p.Lys211Arg, NP_055735.1:p.Lys211Arg, NP_001362327.1:p.Lys211Arg, NP_001362328.1:p.Lys211Arg, NP_001362331.1:p.Lys211Arg, NP_001362330.1:p.Lys211Arg, NP_001362329.1:p.Lys211Arg, NP_001362326.1:p.Lys211Arg, XP_011512722.1:p.Lys211Arg, XP_016865974.1:p.Lys211Arg, XP_016865976.1:p.Lys211Arg, XP_011512723.1:p.Lys211Arg, XP_047274352.1:p.Lys211Arg, XP_047274350.1:p.Lys211Arg, XP_047274348.1:p.Lys211Arg, XP_047274351.1:p.Lys211Arg, XP_047274349.1:p.Lys211Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...