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Items: 1 to 20 of 369

1.

rs1489472235 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>-,CC [Show Flanks]
    Chromosome:
    6:31664077 (GRCh38)
    6:31631854 (GRCh37)
    Canonical SPDI:
    NC_000006.12:31664076:CCCCCC:CCCCC,NC_000006.12:31664076:CCCCCC:CCCCCCC
    Gene:
    CSNK2B (Varview), GPANK1 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCC=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.31664082del, NC_000006.12:g.31664082dup, NC_000006.11:g.31631859del, NC_000006.11:g.31631859dup, NT_113891.3:g.3141373del, NT_113891.3:g.3141373dup, NT_113891.2:g.3141479del, NT_113891.2:g.3141479dup, NT_167248.2:g.2919906del, NT_167248.2:g.2919906dup, NT_167248.1:g.2925502del, NT_167248.1:g.2925502dup, NT_167245.2:g.2911853del, NT_167245.2:g.2911853dup, NT_167245.1:g.2917438del, NT_167245.1:g.2917438dup, NT_167249.2:g.2963366del, NT_167249.2:g.2963366dup, NT_167249.1:g.2962664del, NT_167249.1:g.2962664dup, NT_167246.2:g.2969129del, NT_167246.2:g.2969129dup, NT_167246.1:g.2974749del, NT_167246.1:g.2974749dup, NT_167247.2:g.3005954del, NT_167247.2:g.3005954dup, NT_167247.1:g.3011539del, NT_167247.1:g.3011539dup, XM_005249403.4:c.402del, XM_005249403.4:c.402dup, XM_005249403.3:c.402del, XM_005249403.3:c.402dup, XM_005249403.2:c.402del, XM_005249403.2:c.402dup, XM_005249403.1:c.402del, XM_005249403.1:c.402dup, NM_033177.4:c.402del, NM_033177.4:c.402dup, NM_033177.3:c.402del, NM_033177.3:c.402dup, XM_011514909.2:c.402del, XM_011514909.2:c.402dup, XM_011514909.1:c.402del, XM_011514909.1:c.402dup, XM_011514910.2:c.402del, XM_011514910.2:c.402dup, XM_011514910.1:c.402del, XM_011514910.1:c.402dup, XM_024446549.2:c.402del, XM_024446549.2:c.402dup, XM_024446549.1:c.402del, XM_024446549.1:c.402dup, XM_047419350.1:c.402del, XM_047419350.1:c.402dup, NM_001199237.1:c.402del, NM_001199237.1:c.402dup, NM_001199238.1:c.402del, NM_001199238.1:c.402dup, NM_001199239.1:c.402del, NM_001199239.1:c.402dup, NM_001199240.1:c.402del, NM_001199240.1:c.402dup, XM_047419351.1:c.402del, XM_047419351.1:c.402dup, XM_006715204.2:c.402del, XM_006715204.2:c.402dup, XM_006715204.1:c.402del, XM_006715204.1:c.402dup, XP_005249460.1:p.Asn135fs, XP_005249460.1:p.Asn135fs, NP_149417.1:p.Asn135fs, NP_149417.1:p.Asn135fs, XP_011513211.1:p.Asn135fs, XP_011513211.1:p.Asn135fs, XP_011513212.1:p.Asn135fs, XP_011513212.1:p.Asn135fs, XP_024302317.1:p.Asn135fs, XP_024302317.1:p.Asn135fs, XP_047275306.1:p.Asn135fs, XP_047275306.1:p.Asn135fs, NP_001186166.1:p.Asn135fs, NP_001186166.1:p.Asn135fs, NP_001186167.1:p.Asn135fs, NP_001186167.1:p.Asn135fs, NP_001186168.1:p.Asn135fs, NP_001186168.1:p.Asn135fs, NP_001186169.1:p.Asn135fs, NP_001186169.1:p.Asn135fs, XP_047275307.1:p.Asn135fs, XP_047275307.1:p.Asn135fs, XP_006715267.1:p.Asn135fs, XP_006715267.1:p.Asn135fs

    2.

    rs1488503120 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      6:31664431 (GRCh38)
      6:31632208 (GRCh37)
      Canonical SPDI:
      NC_000006.12:31664430:G:C
      Gene:
      CSNK2B (Varview), GPANK1 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.31664431G>C, NC_000006.11:g.31632208G>C, NT_113891.3:g.3141722G>C, NT_113891.2:g.3141828G>C, NT_167248.2:g.2920255G>C, NT_167248.1:g.2925851G>C, NT_167245.2:g.2912202G>C, NT_167245.1:g.2917787G>C, NT_167249.2:g.2963715G>C, NT_167249.1:g.2963013G>C, NT_167246.2:g.2969478G>C, NT_167246.1:g.2975098G>C, NT_167247.2:g.3006303G>C, NT_167247.1:g.3011888G>C, XM_005249403.4:c.48C>G, XM_005249403.3:c.48C>G, XM_005249403.2:c.48C>G, XM_005249403.1:c.48C>G, NM_033177.4:c.48C>G, NM_033177.3:c.48C>G, XM_011514909.2:c.48C>G, XM_011514909.1:c.48C>G, XM_011514910.2:c.48C>G, XM_011514910.1:c.48C>G, XM_006715204.2:c.48C>G, XM_006715204.1:c.48C>G, XM_024446549.2:c.48C>G, XM_024446549.1:c.48C>G, XM_047419350.1:c.48C>G, NM_001199238.1:c.48C>G, NM_001199239.1:c.48C>G, NM_001199240.1:c.48C>G, XM_047419351.1:c.48C>G, NM_001199237.1:c.48C>G, XP_005249460.1:p.Ser16Arg, NP_149417.1:p.Ser16Arg, XP_011513211.1:p.Ser16Arg, XP_011513212.1:p.Ser16Arg, XP_006715267.1:p.Ser16Arg, XP_024302317.1:p.Ser16Arg, XP_047275306.1:p.Ser16Arg, NP_001186167.1:p.Ser16Arg, NP_001186168.1:p.Ser16Arg, NP_001186169.1:p.Ser16Arg, XP_047275307.1:p.Ser16Arg, NP_001186166.1:p.Ser16Arg

      3.

      rs1484463268 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:31662607 (GRCh38)
        6:31630384 (GRCh37)
        Canonical SPDI:
        NC_000006.12:31662606:G:A
        Gene:
        GPANK1 (Varview), C6orf47 (Varview)
        Functional Consequence:
        coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000028/1 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000006.12:g.31662607G>A, NC_000006.11:g.31630384G>A, NT_113891.3:g.3139897G>A, NT_113891.2:g.3140003G>A, NT_167248.2:g.2918430G>A, NT_167248.1:g.2924026G>A, NT_167245.2:g.2910378G>A, NT_167245.1:g.2915963G>A, NT_167249.2:g.2961889G>A, NT_167249.1:g.2961187G>A, NT_167246.2:g.2967654G>A, NT_167246.1:g.2973274G>A, NT_167247.2:g.3004479G>A, NT_167247.1:g.3010064G>A, XM_005249403.4:c.730C>T, XM_005249403.3:c.730C>T, XM_005249403.2:c.730C>T, XM_005249403.1:c.730C>T, NM_033177.4:c.730C>T, NM_033177.3:c.730C>T, XM_011514909.2:c.730C>T, XM_011514909.1:c.730C>T, XM_011514910.2:c.730C>T, XM_011514910.1:c.730C>T, XM_024446549.2:c.730C>T, XM_024446549.1:c.730C>T, XM_047419350.1:c.730C>T, NM_001199237.1:c.730C>T, NM_001199238.1:c.730C>T, NM_001199239.1:c.730C>T, NM_001199240.1:c.730C>T, XM_047419351.1:c.730C>T, XM_006715204.2:c.730C>T, XM_006715204.1:c.730C>T, XP_005249460.1:p.Pro244Ser, NP_149417.1:p.Pro244Ser, XP_011513211.1:p.Pro244Ser, XP_011513212.1:p.Pro244Ser, XP_024302317.1:p.Pro244Ser, XP_047275306.1:p.Pro244Ser, NP_001186166.1:p.Pro244Ser, NP_001186167.1:p.Pro244Ser, NP_001186168.1:p.Pro244Ser, NP_001186169.1:p.Pro244Ser, XP_047275307.1:p.Pro244Ser, XP_006715267.1:p.Pro244Ser

        4.

        rs1481437671 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:31663923 (GRCh38)
          6:31631700 (GRCh37)
          Canonical SPDI:
          NC_000006.12:31663922:C:T
          Gene:
          GPANK1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.31663923C>T, NC_000006.11:g.31631700C>T, NT_113891.3:g.3141214C>T, NT_113891.2:g.3141320C>T, NT_167248.2:g.2919747C>T, NT_167248.1:g.2925343C>T, NT_167245.2:g.2911694C>T, NT_167245.1:g.2917279C>T, NT_167249.2:g.2963207C>T, NT_167249.1:g.2962505C>T, NT_167246.2:g.2968970C>T, NT_167246.1:g.2974590C>T, NT_167247.2:g.3005795C>T, NT_167247.1:g.3011380C>T, XM_005249403.4:c.556G>A, XM_005249403.3:c.556G>A, XM_005249403.2:c.556G>A, XM_005249403.1:c.556G>A, NM_033177.4:c.556G>A, NM_033177.3:c.556G>A, XM_011514909.2:c.556G>A, XM_011514909.1:c.556G>A, XM_011514910.2:c.556G>A, XM_011514910.1:c.556G>A, XM_024446549.2:c.556G>A, XM_024446549.1:c.556G>A, XM_047419350.1:c.556G>A, NM_001199237.1:c.556G>A, NM_001199238.1:c.556G>A, NM_001199239.1:c.556G>A, NM_001199240.1:c.556G>A, XM_047419351.1:c.556G>A, XM_006715204.2:c.556G>A, XM_006715204.1:c.556G>A, XP_005249460.1:p.Glu186Lys, NP_149417.1:p.Glu186Lys, XP_011513211.1:p.Glu186Lys, XP_011513212.1:p.Glu186Lys, XP_024302317.1:p.Glu186Lys, XP_047275306.1:p.Glu186Lys, NP_001186166.1:p.Glu186Lys, NP_001186167.1:p.Glu186Lys, NP_001186168.1:p.Glu186Lys, NP_001186169.1:p.Glu186Lys, XP_047275307.1:p.Glu186Lys, XP_006715267.1:p.Glu186Lys

          5.

          rs1480710882 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            6:31663874 (GRCh38)
            6:31631651 (GRCh37)
            Canonical SPDI:
            NC_000006.12:31663873:T:A
            Gene:
            GPANK1 (Varview)
            Functional Consequence:
            coding_sequence_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_000006.12:g.31663874T>A, NC_000006.11:g.31631651T>A, NT_113891.3:g.3141165T>A, NT_113891.2:g.3141271T>A, NT_167248.2:g.2919698T>A, NT_167248.1:g.2925294T>A, NT_167245.2:g.2911645T>A, NT_167245.1:g.2917230T>A, NT_167249.2:g.2963158T>A, NT_167249.1:g.2962456T>A, NT_167246.2:g.2968921T>A, NT_167246.1:g.2974541T>A, NT_167247.2:g.3005746T>A, NT_167247.1:g.3011331T>A, XM_005249403.4:c.605A>T, XM_005249403.3:c.605A>T, XM_005249403.2:c.605A>T, XM_005249403.1:c.605A>T, NM_033177.4:c.605A>T, NM_033177.3:c.605A>T, XM_011514909.2:c.605A>T, XM_011514909.1:c.605A>T, XM_011514910.2:c.605A>T, XM_011514910.1:c.605A>T, XM_024446549.2:c.605A>T, XM_024446549.1:c.605A>T, XM_047419350.1:c.605A>T, NM_001199237.1:c.605A>T, NM_001199238.1:c.605A>T, NM_001199239.1:c.605A>T, NM_001199240.1:c.605A>T, XM_047419351.1:c.605A>T, XM_006715204.2:c.605A>T, XM_006715204.1:c.605A>T, XP_005249460.1:p.Glu202Val, NP_149417.1:p.Glu202Val, XP_011513211.1:p.Glu202Val, XP_011513212.1:p.Glu202Val, XP_024302317.1:p.Glu202Val, XP_047275306.1:p.Glu202Val, NP_001186166.1:p.Glu202Val, NP_001186167.1:p.Glu202Val, NP_001186168.1:p.Glu202Val, NP_001186169.1:p.Glu202Val, XP_047275307.1:p.Glu202Val, XP_006715267.1:p.Glu202Val

            6.

            rs1469856704 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:31662386 (GRCh38)
              6:31630163 (GRCh37)
              Canonical SPDI:
              NC_000006.12:31662385:C:T
              Gene:
              GPANK1 (Varview), C6orf47 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
              HGVS:
              NC_000006.12:g.31662386C>T, NC_000006.11:g.31630163C>T, NT_113891.3:g.3139676C>T, NT_113891.2:g.3139782C>T, NT_167248.2:g.2918209C>T, NT_167248.1:g.2923805C>T, NT_167245.2:g.2910157C>T, NT_167245.1:g.2915742C>T, NT_167249.2:g.2961668C>T, NT_167249.1:g.2960966C>T, NT_167246.2:g.2967433C>T, NT_167246.1:g.2973053C>T, NT_167247.2:g.3004258C>T, NT_167247.1:g.3009843C>T, XM_005249403.4:c.951G>A, XM_005249403.3:c.951G>A, XM_005249403.2:c.951G>A, XM_005249403.1:c.951G>A, NM_033177.4:c.951G>A, NM_033177.3:c.951G>A, XM_011514909.2:c.951G>A, XM_011514909.1:c.951G>A, XM_011514910.2:c.951G>A, XM_011514910.1:c.951G>A, XM_024446549.2:c.951G>A, XM_024446549.1:c.951G>A, XM_047419350.1:c.951G>A, NM_001199237.1:c.951G>A, NM_001199238.1:c.951G>A, NM_001199239.1:c.951G>A, NM_001199240.1:c.951G>A, XM_047419351.1:c.951G>A, XM_006715204.2:c.951G>A, XM_006715204.1:c.951G>A

              7.

              rs1469682073 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:31664162 (GRCh38)
                6:31631939 (GRCh37)
                Canonical SPDI:
                NC_000006.12:31664161:T:C
                Gene:
                CSNK2B (Varview), GPANK1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.31664162T>C, NC_000006.11:g.31631939T>C, NT_113891.3:g.3141453T>C, NT_113891.2:g.3141559T>C, NT_167248.2:g.2919986T>C, NT_167248.1:g.2925582T>C, NT_167245.2:g.2911933T>C, NT_167245.1:g.2917518T>C, NT_167249.2:g.2963446T>C, NT_167249.1:g.2962744T>C, NT_167246.2:g.2969209T>C, NT_167246.1:g.2974829T>C, NT_167247.2:g.3006034T>C, NT_167247.1:g.3011619T>C, XM_005249403.4:c.317A>G, XM_005249403.3:c.317A>G, XM_005249403.2:c.317A>G, XM_005249403.1:c.317A>G, NM_033177.4:c.317A>G, NM_033177.3:c.317A>G, XM_011514909.2:c.317A>G, XM_011514909.1:c.317A>G, XM_011514910.2:c.317A>G, XM_011514910.1:c.317A>G, XM_006715204.2:c.317A>G, XM_006715204.1:c.317A>G, XM_024446549.2:c.317A>G, XM_024446549.1:c.317A>G, XM_047419350.1:c.317A>G, NM_001199238.1:c.317A>G, NM_001199239.1:c.317A>G, NM_001199240.1:c.317A>G, XM_047419351.1:c.317A>G, NM_001199237.1:c.317A>G, XP_005249460.1:p.His106Arg, NP_149417.1:p.His106Arg, XP_011513211.1:p.His106Arg, XP_011513212.1:p.His106Arg, XP_006715267.1:p.His106Arg, XP_024302317.1:p.His106Arg, XP_047275306.1:p.His106Arg, NP_001186167.1:p.His106Arg, NP_001186168.1:p.His106Arg, NP_001186169.1:p.His106Arg, XP_047275307.1:p.His106Arg, NP_001186166.1:p.His106Arg

                8.

                rs1468285765 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  6:31664034 (GRCh38)
                  6:31631811 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:31664033:A:T
                  Gene:
                  GPANK1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.31664034A>T, NC_000006.11:g.31631811A>T, NT_113891.3:g.3141325A>T, NT_113891.2:g.3141431A>T, NT_167248.2:g.2919858A>T, NT_167248.1:g.2925454A>T, NT_167245.2:g.2911805A>T, NT_167245.1:g.2917390A>T, NT_167249.2:g.2963318A>T, NT_167249.1:g.2962616A>T, NT_167246.2:g.2969081A>T, NT_167246.1:g.2974701A>T, NT_167247.2:g.3005906A>T, NT_167247.1:g.3011491A>T, XM_005249403.4:c.445T>A, XM_005249403.3:c.445T>A, XM_005249403.2:c.445T>A, XM_005249403.1:c.445T>A, NM_033177.4:c.445T>A, NM_033177.3:c.445T>A, XM_011514909.2:c.445T>A, XM_011514909.1:c.445T>A, XM_011514910.2:c.445T>A, XM_011514910.1:c.445T>A, XM_024446549.2:c.445T>A, XM_024446549.1:c.445T>A, XM_047419350.1:c.445T>A, NM_001199237.1:c.445T>A, NM_001199238.1:c.445T>A, NM_001199239.1:c.445T>A, NM_001199240.1:c.445T>A, XM_047419351.1:c.445T>A, XM_006715204.2:c.445T>A, XM_006715204.1:c.445T>A, XP_005249460.1:p.Cys149Ser, NP_149417.1:p.Cys149Ser, XP_011513211.1:p.Cys149Ser, XP_011513212.1:p.Cys149Ser, XP_024302317.1:p.Cys149Ser, XP_047275306.1:p.Cys149Ser, NP_001186166.1:p.Cys149Ser, NP_001186167.1:p.Cys149Ser, NP_001186168.1:p.Cys149Ser, NP_001186169.1:p.Cys149Ser, XP_047275307.1:p.Cys149Ser, XP_006715267.1:p.Cys149Ser

                  9.

                  rs1460294107 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    6:31664140 (GRCh38)
                    6:31631917 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:31664139:C:G
                    Gene:
                    CSNK2B (Varview), GPANK1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    NC_000006.12:g.31664140C>G, NC_000006.11:g.31631917C>G, NT_113891.3:g.3141431C>G, NT_113891.2:g.3141537C>G, NT_167248.2:g.2919964C>G, NT_167248.1:g.2925560C>G, NT_167245.2:g.2911911C>G, NT_167245.1:g.2917496C>G, NT_167249.2:g.2963424C>G, NT_167249.1:g.2962722C>G, NT_167246.2:g.2969187C>G, NT_167246.1:g.2974807C>G, NT_167247.2:g.3006012C>G, NT_167247.1:g.3011597C>G, XM_005249403.4:c.339G>C, XM_005249403.3:c.339G>C, XM_005249403.2:c.339G>C, XM_005249403.1:c.339G>C, NM_033177.4:c.339G>C, NM_033177.3:c.339G>C, XM_011514909.2:c.339G>C, XM_011514909.1:c.339G>C, XM_011514910.2:c.339G>C, XM_011514910.1:c.339G>C, XM_024446549.2:c.339G>C, XM_024446549.1:c.339G>C, XM_047419350.1:c.339G>C, NM_001199237.1:c.339G>C, NM_001199238.1:c.339G>C, NM_001199239.1:c.339G>C, NM_001199240.1:c.339G>C, XM_047419351.1:c.339G>C, XM_006715204.2:c.339G>C, XM_006715204.1:c.339G>C, XP_005249460.1:p.Gln113His, NP_149417.1:p.Gln113His, XP_011513211.1:p.Gln113His, XP_011513212.1:p.Gln113His, XP_024302317.1:p.Gln113His, XP_047275306.1:p.Gln113His, NP_001186166.1:p.Gln113His, NP_001186167.1:p.Gln113His, NP_001186168.1:p.Gln113His, NP_001186169.1:p.Gln113His, XP_047275307.1:p.Gln113His, XP_006715267.1:p.Gln113His

                    10.

                    rs1458548074 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:31663873 (GRCh38)
                      6:31631650 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:31663872:C:T
                      Gene:
                      GPANK1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000005/1 (GnomAD_exomes)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000006.12:g.31663873C>T, NC_000006.11:g.31631650C>T, NT_113891.3:g.3141164C>T, NT_113891.2:g.3141270C>T, NT_167248.2:g.2919697C>T, NT_167248.1:g.2925293C>T, NT_167245.2:g.2911644C>T, NT_167245.1:g.2917229C>T, NT_167249.2:g.2963157C>T, NT_167249.1:g.2962455C>T, NT_167246.2:g.2968920C>T, NT_167246.1:g.2974540C>T, NT_167247.2:g.3005745C>T, NT_167247.1:g.3011330C>T, XM_005249403.4:c.606G>A, XM_005249403.3:c.606G>A, XM_005249403.2:c.606G>A, XM_005249403.1:c.606G>A, NM_033177.4:c.606G>A, NM_033177.3:c.606G>A, XM_011514909.2:c.606G>A, XM_011514909.1:c.606G>A, XM_011514910.2:c.606G>A, XM_011514910.1:c.606G>A, XM_024446549.2:c.606G>A, XM_024446549.1:c.606G>A, XM_047419350.1:c.606G>A, NM_001199237.1:c.606G>A, NM_001199238.1:c.606G>A, NM_001199239.1:c.606G>A, NM_001199240.1:c.606G>A, XM_047419351.1:c.606G>A, XM_006715204.2:c.606G>A, XM_006715204.1:c.606G>A

                      11.

                      rs1454988512 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:31662574 (GRCh38)
                        6:31630351 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:31662573:T:C
                        Gene:
                        GPANK1 (Varview), C6orf47 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.31662574T>C, NC_000006.11:g.31630351T>C, NT_113891.3:g.3139864T>C, NT_113891.2:g.3139970T>C, NT_167248.2:g.2918397T>C, NT_167248.1:g.2923993T>C, NT_167245.2:g.2910345T>C, NT_167245.1:g.2915930T>C, NT_167249.2:g.2961856T>C, NT_167249.1:g.2961154T>C, NT_167246.2:g.2967621T>C, NT_167246.1:g.2973241T>C, NT_167247.2:g.3004446T>C, NT_167247.1:g.3010031T>C, XM_005249403.4:c.763A>G, XM_005249403.3:c.763A>G, XM_005249403.2:c.763A>G, XM_005249403.1:c.763A>G, NM_033177.4:c.763A>G, NM_033177.3:c.763A>G, XM_011514909.2:c.763A>G, XM_011514909.1:c.763A>G, XM_011514910.2:c.763A>G, XM_011514910.1:c.763A>G, XM_006715204.2:c.763A>G, XM_006715204.1:c.763A>G, XM_024446549.2:c.763A>G, XM_024446549.1:c.763A>G, XM_047419350.1:c.763A>G, NM_001199238.1:c.763A>G, NM_001199239.1:c.763A>G, NM_001199240.1:c.763A>G, XM_047419351.1:c.763A>G, NM_001199237.1:c.763A>G, XP_005249460.1:p.Ile255Val, NP_149417.1:p.Ile255Val, XP_011513211.1:p.Ile255Val, XP_011513212.1:p.Ile255Val, XP_006715267.1:p.Ile255Val, XP_024302317.1:p.Ile255Val, XP_047275306.1:p.Ile255Val, NP_001186167.1:p.Ile255Val, NP_001186168.1:p.Ile255Val, NP_001186169.1:p.Ile255Val, XP_047275307.1:p.Ile255Val, NP_001186166.1:p.Ile255Val

                        12.

                        rs1452658972 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          6:31664111 (GRCh38)
                          6:31631888 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:31664110:A:C
                          Gene:
                          CSNK2B (Varview), GPANK1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000006.12:g.31664111A>C, NC_000006.11:g.31631888A>C, NT_113891.3:g.3141402A>C, NT_113891.2:g.3141508A>C, NT_167248.2:g.2919935A>C, NT_167248.1:g.2925531A>C, NT_167245.2:g.2911882A>C, NT_167245.1:g.2917467A>C, NT_167249.2:g.2963395A>C, NT_167249.1:g.2962693A>C, NT_167246.2:g.2969158A>C, NT_167246.1:g.2974778A>C, NT_167247.2:g.3005983A>C, NT_167247.1:g.3011568A>C, XM_005249403.4:c.368T>G, XM_005249403.3:c.368T>G, XM_005249403.2:c.368T>G, XM_005249403.1:c.368T>G, NM_033177.4:c.368T>G, NM_033177.3:c.368T>G, XM_011514909.2:c.368T>G, XM_011514909.1:c.368T>G, XM_011514910.2:c.368T>G, XM_011514910.1:c.368T>G, XM_006715204.2:c.368T>G, XM_006715204.1:c.368T>G, XM_024446549.2:c.368T>G, XM_024446549.1:c.368T>G, XM_047419350.1:c.368T>G, NM_001199238.1:c.368T>G, NM_001199239.1:c.368T>G, NM_001199240.1:c.368T>G, XM_047419351.1:c.368T>G, NM_001199237.1:c.368T>G, XP_005249460.1:p.Leu123Arg, NP_149417.1:p.Leu123Arg, XP_011513211.1:p.Leu123Arg, XP_011513212.1:p.Leu123Arg, XP_006715267.1:p.Leu123Arg, XP_024302317.1:p.Leu123Arg, XP_047275306.1:p.Leu123Arg, NP_001186167.1:p.Leu123Arg, NP_001186168.1:p.Leu123Arg, NP_001186169.1:p.Leu123Arg, XP_047275307.1:p.Leu123Arg, NP_001186166.1:p.Leu123Arg

                          13.

                          rs1445256757 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            6:31662653 (GRCh38)
                            6:31630430 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:31662652:G:A,NC_000006.12:31662652:G:C,NC_000006.12:31662652:G:T
                            Gene:
                            GPANK1 (Varview), C6orf47 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.31662653G>A, NC_000006.12:g.31662653G>C, NC_000006.12:g.31662653G>T, NC_000006.11:g.31630430G>A, NC_000006.11:g.31630430G>C, NC_000006.11:g.31630430G>T, NT_113891.3:g.3139943G>A, NT_113891.3:g.3139943G>C, NT_113891.3:g.3139943G>T, NT_113891.2:g.3140049G>A, NT_113891.2:g.3140049G>C, NT_113891.2:g.3140049G>T, NT_167248.2:g.2918476G>A, NT_167248.2:g.2918476G>C, NT_167248.2:g.2918476G>T, NT_167248.1:g.2924072G>A, NT_167248.1:g.2924072G>C, NT_167248.1:g.2924072G>T, NT_167245.2:g.2910424G>A, NT_167245.2:g.2910424G>C, NT_167245.2:g.2910424G>T, NT_167245.1:g.2916009G>A, NT_167245.1:g.2916009G>C, NT_167245.1:g.2916009G>T, NT_167249.2:g.2961935G>A, NT_167249.2:g.2961935G>C, NT_167249.2:g.2961935G>T, NT_167249.1:g.2961233G>A, NT_167249.1:g.2961233G>C, NT_167249.1:g.2961233G>T, NT_167246.2:g.2967700G>A, NT_167246.2:g.2967700G>C, NT_167246.2:g.2967700G>T, NT_167246.1:g.2973320G>A, NT_167246.1:g.2973320G>C, NT_167246.1:g.2973320G>T, NT_167247.2:g.3004525G>A, NT_167247.2:g.3004525G>C, NT_167247.2:g.3004525G>T, NT_167247.1:g.3010110G>A, NT_167247.1:g.3010110G>C, NT_167247.1:g.3010110G>T, XM_005249403.4:c.684C>T, XM_005249403.4:c.684C>G, XM_005249403.4:c.684C>A, XM_005249403.3:c.684C>T, XM_005249403.3:c.684C>G, XM_005249403.3:c.684C>A, XM_005249403.2:c.684C>T, XM_005249403.2:c.684C>G, XM_005249403.2:c.684C>A, XM_005249403.1:c.684C>T, XM_005249403.1:c.684C>G, XM_005249403.1:c.684C>A, NM_033177.4:c.684C>T, NM_033177.4:c.684C>G, NM_033177.4:c.684C>A, NM_033177.3:c.684C>T, NM_033177.3:c.684C>G, NM_033177.3:c.684C>A, XM_011514909.2:c.684C>T, XM_011514909.2:c.684C>G, XM_011514909.2:c.684C>A, XM_011514909.1:c.684C>T, XM_011514909.1:c.684C>G, XM_011514909.1:c.684C>A, XM_011514910.2:c.684C>T, XM_011514910.2:c.684C>G, XM_011514910.2:c.684C>A, XM_011514910.1:c.684C>T, XM_011514910.1:c.684C>G, XM_011514910.1:c.684C>A, XM_006715204.2:c.684C>T, XM_006715204.2:c.684C>G, XM_006715204.2:c.684C>A, XM_006715204.1:c.684C>T, XM_006715204.1:c.684C>G, XM_006715204.1:c.684C>A, XM_024446549.2:c.684C>T, XM_024446549.2:c.684C>G, XM_024446549.2:c.684C>A, XM_024446549.1:c.684C>T, XM_024446549.1:c.684C>G, XM_024446549.1:c.684C>A, XM_047419350.1:c.684C>T, XM_047419350.1:c.684C>G, XM_047419350.1:c.684C>A, NM_001199238.1:c.684C>T, NM_001199238.1:c.684C>G, NM_001199238.1:c.684C>A, NM_001199239.1:c.684C>T, NM_001199239.1:c.684C>G, NM_001199239.1:c.684C>A, NM_001199240.1:c.684C>T, NM_001199240.1:c.684C>G, NM_001199240.1:c.684C>A, XM_047419351.1:c.684C>T, XM_047419351.1:c.684C>G, XM_047419351.1:c.684C>A, NM_001199237.1:c.684C>T, NM_001199237.1:c.684C>G, NM_001199237.1:c.684C>A

                            14.

                            rs1445059525 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:31664417 (GRCh38)
                              6:31632194 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:31664416:T:C
                              Gene:
                              CSNK2B (Varview), GPANK1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.31664417T>C, NC_000006.11:g.31632194T>C, NT_113891.3:g.3141708T>C, NT_113891.2:g.3141814T>C, NT_167248.2:g.2920241T>C, NT_167248.1:g.2925837T>C, NT_167245.2:g.2912188T>C, NT_167245.1:g.2917773T>C, NT_167249.2:g.2963701T>C, NT_167249.1:g.2962999T>C, NT_167246.2:g.2969464T>C, NT_167246.1:g.2975084T>C, NT_167247.2:g.3006289T>C, NT_167247.1:g.3011874T>C, XM_005249403.4:c.62A>G, XM_005249403.3:c.62A>G, XM_005249403.2:c.62A>G, XM_005249403.1:c.62A>G, NM_033177.4:c.62A>G, NM_033177.3:c.62A>G, XM_011514909.2:c.62A>G, XM_011514909.1:c.62A>G, XM_011514910.2:c.62A>G, XM_011514910.1:c.62A>G, XM_024446549.2:c.62A>G, XM_024446549.1:c.62A>G, XM_047419350.1:c.62A>G, NM_001199237.1:c.62A>G, NM_001199238.1:c.62A>G, NM_001199239.1:c.62A>G, NM_001199240.1:c.62A>G, XM_047419351.1:c.62A>G, XM_006715204.2:c.62A>G, XM_006715204.1:c.62A>G, XP_005249460.1:p.Asp21Gly, NP_149417.1:p.Asp21Gly, XP_011513211.1:p.Asp21Gly, XP_011513212.1:p.Asp21Gly, XP_024302317.1:p.Asp21Gly, XP_047275306.1:p.Asp21Gly, NP_001186166.1:p.Asp21Gly, NP_001186167.1:p.Asp21Gly, NP_001186168.1:p.Asp21Gly, NP_001186169.1:p.Asp21Gly, XP_047275307.1:p.Asp21Gly, XP_006715267.1:p.Asp21Gly

                              15.

                              rs1440394987 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:31662302 (GRCh38)
                                6:31630079 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:31662301:C:T
                                Gene:
                                GPANK1 (Varview), C6orf47 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000006.12:g.31662302C>T, NC_000006.11:g.31630079C>T, NT_113891.3:g.3139592C>T, NT_113891.2:g.3139698C>T, NT_167248.2:g.2918125C>T, NT_167248.1:g.2923721C>T, NT_167245.2:g.2910073C>T, NT_167245.1:g.2915658C>T, NT_167249.2:g.2961584C>T, NT_167249.1:g.2960882C>T, NT_167246.2:g.2967349C>T, NT_167246.1:g.2972969C>T, NT_167247.2:g.3004174C>T, NT_167247.1:g.3009759C>T, XM_005249403.4:c.1035G>A, XM_005249403.3:c.1035G>A, XM_005249403.2:c.1035G>A, XM_005249403.1:c.1035G>A, NM_033177.4:c.1035G>A, NM_033177.3:c.1035G>A, XM_011514909.2:c.1035G>A, XM_011514909.1:c.1035G>A, XM_011514910.2:c.1035G>A, XM_011514910.1:c.1035G>A, XM_024446549.2:c.1035G>A, XM_024446549.1:c.1035G>A, XM_047419350.1:c.1035G>A, NM_001199237.1:c.1035G>A, NM_001199238.1:c.1035G>A, NM_001199239.1:c.1035G>A, NM_001199240.1:c.1035G>A, XM_047419351.1:c.1035G>A, XM_006715204.2:c.1035G>A, XM_006715204.1:c.1035G>A

                                16.

                                rs1440276724 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:31664178 (GRCh38)
                                  6:31631955 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:31664177:C:T
                                  Gene:
                                  CSNK2B (Varview), GPANK1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.31664178C>T, NC_000006.11:g.31631955C>T, NT_113891.3:g.3141469C>T, NT_113891.2:g.3141575C>T, NT_167248.2:g.2920002C>T, NT_167248.1:g.2925598C>T, NT_167245.2:g.2911949C>T, NT_167245.1:g.2917534C>T, NT_167249.2:g.2963462C>T, NT_167249.1:g.2962760C>T, NT_167246.2:g.2969225C>T, NT_167246.1:g.2974845C>T, NT_167247.2:g.3006050C>T, NT_167247.1:g.3011635C>T, XM_005249403.4:c.301G>A, XM_005249403.3:c.301G>A, XM_005249403.2:c.301G>A, XM_005249403.1:c.301G>A, NM_033177.4:c.301G>A, NM_033177.3:c.301G>A, XM_011514909.2:c.301G>A, XM_011514909.1:c.301G>A, XM_011514910.2:c.301G>A, XM_011514910.1:c.301G>A, XM_006715204.2:c.301G>A, XM_006715204.1:c.301G>A, XM_024446549.2:c.301G>A, XM_024446549.1:c.301G>A, XM_047419350.1:c.301G>A, NM_001199238.1:c.301G>A, NM_001199239.1:c.301G>A, NM_001199240.1:c.301G>A, XM_047419351.1:c.301G>A, NM_001199237.1:c.301G>A, XP_005249460.1:p.Glu101Lys, NP_149417.1:p.Glu101Lys, XP_011513211.1:p.Glu101Lys, XP_011513212.1:p.Glu101Lys, XP_006715267.1:p.Glu101Lys, XP_024302317.1:p.Glu101Lys, XP_047275306.1:p.Glu101Lys, NP_001186167.1:p.Glu101Lys, NP_001186168.1:p.Glu101Lys, NP_001186169.1:p.Glu101Lys, XP_047275307.1:p.Glu101Lys, NP_001186166.1:p.Glu101Lys

                                  17.

                                  rs1438658226 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:31662516 (GRCh38)
                                    6:31630293 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:31662515:A:G
                                    Gene:
                                    GPANK1 (Varview), C6orf47 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.31662516A>G, NC_000006.11:g.31630293A>G, NT_113891.3:g.3139806A>G, NT_113891.2:g.3139912A>G, NT_167248.2:g.2918339A>G, NT_167248.1:g.2923935A>G, NT_167245.2:g.2910287A>G, NT_167245.1:g.2915872A>G, NT_167249.2:g.2961798A>G, NT_167249.1:g.2961096A>G, NT_167246.2:g.2967563A>G, NT_167246.1:g.2973183A>G, NT_167247.2:g.3004388A>G, NT_167247.1:g.3009973A>G, XM_005249403.4:c.821T>C, XM_005249403.3:c.821T>C, XM_005249403.2:c.821T>C, XM_005249403.1:c.821T>C, NM_033177.4:c.821T>C, NM_033177.3:c.821T>C, XM_011514909.2:c.821T>C, XM_011514909.1:c.821T>C, XM_011514910.2:c.821T>C, XM_011514910.1:c.821T>C, XM_024446549.2:c.821T>C, XM_024446549.1:c.821T>C, XM_047419350.1:c.821T>C, NM_001199237.1:c.821T>C, NM_001199238.1:c.821T>C, NM_001199239.1:c.821T>C, NM_001199240.1:c.821T>C, XM_047419351.1:c.821T>C, XM_006715204.2:c.821T>C, XM_006715204.1:c.821T>C, XP_005249460.1:p.Leu274Pro, NP_149417.1:p.Leu274Pro, XP_011513211.1:p.Leu274Pro, XP_011513212.1:p.Leu274Pro, XP_024302317.1:p.Leu274Pro, XP_047275306.1:p.Leu274Pro, NP_001186166.1:p.Leu274Pro, NP_001186167.1:p.Leu274Pro, NP_001186168.1:p.Leu274Pro, NP_001186169.1:p.Leu274Pro, XP_047275307.1:p.Leu274Pro, XP_006715267.1:p.Leu274Pro

                                    18.

                                    rs1437508240 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      6:31664241 (GRCh38)
                                      6:31632018 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:31664240:C:A,NC_000006.12:31664240:C:T
                                      Gene:
                                      CSNK2B (Varview), GPANK1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000043/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.31664241C>A, NC_000006.12:g.31664241C>T, NC_000006.11:g.31632018C>A, NC_000006.11:g.31632018C>T, NT_113891.3:g.3141532C>A, NT_113891.3:g.3141532C>T, NT_113891.2:g.3141638C>A, NT_113891.2:g.3141638C>T, NT_167248.2:g.2920065C>A, NT_167248.2:g.2920065C>T, NT_167248.1:g.2925661C>A, NT_167248.1:g.2925661C>T, NT_167245.2:g.2912012C>A, NT_167245.2:g.2912012C>T, NT_167245.1:g.2917597C>A, NT_167245.1:g.2917597C>T, NT_167249.2:g.2963525C>A, NT_167249.2:g.2963525C>T, NT_167249.1:g.2962823C>A, NT_167249.1:g.2962823C>T, NT_167246.2:g.2969288C>A, NT_167246.2:g.2969288C>T, NT_167246.1:g.2974908C>A, NT_167246.1:g.2974908C>T, NT_167247.2:g.3006113C>A, NT_167247.2:g.3006113C>T, NT_167247.1:g.3011698C>A, NT_167247.1:g.3011698C>T, XM_005249403.4:c.238G>T, XM_005249403.4:c.238G>A, XM_005249403.3:c.238G>T, XM_005249403.3:c.238G>A, XM_005249403.2:c.238G>T, XM_005249403.2:c.238G>A, XM_005249403.1:c.238G>T, XM_005249403.1:c.238G>A, NM_033177.4:c.238G>T, NM_033177.4:c.238G>A, NM_033177.3:c.238G>T, NM_033177.3:c.238G>A, XM_011514909.2:c.238G>T, XM_011514909.2:c.238G>A, XM_011514909.1:c.238G>T, XM_011514909.1:c.238G>A, XM_011514910.2:c.238G>T, XM_011514910.2:c.238G>A, XM_011514910.1:c.238G>T, XM_011514910.1:c.238G>A, XM_024446549.2:c.238G>T, XM_024446549.2:c.238G>A, XM_024446549.1:c.238G>T, XM_024446549.1:c.238G>A, XM_047419350.1:c.238G>T, XM_047419350.1:c.238G>A, NM_001199237.1:c.238G>T, NM_001199237.1:c.238G>A, NM_001199238.1:c.238G>T, NM_001199238.1:c.238G>A, NM_001199239.1:c.238G>T, NM_001199239.1:c.238G>A, NM_001199240.1:c.238G>T, NM_001199240.1:c.238G>A, XM_047419351.1:c.238G>T, XM_047419351.1:c.238G>A, XM_006715204.2:c.238G>T, XM_006715204.2:c.238G>A, XM_006715204.1:c.238G>T, XM_006715204.1:c.238G>A, XP_005249460.1:p.Ala80Ser, XP_005249460.1:p.Ala80Thr, NP_149417.1:p.Ala80Ser, NP_149417.1:p.Ala80Thr, XP_011513211.1:p.Ala80Ser, XP_011513211.1:p.Ala80Thr, XP_011513212.1:p.Ala80Ser, XP_011513212.1:p.Ala80Thr, XP_024302317.1:p.Ala80Ser, XP_024302317.1:p.Ala80Thr, XP_047275306.1:p.Ala80Ser, XP_047275306.1:p.Ala80Thr, NP_001186166.1:p.Ala80Ser, NP_001186166.1:p.Ala80Thr, NP_001186167.1:p.Ala80Ser, NP_001186167.1:p.Ala80Thr, NP_001186168.1:p.Ala80Ser, NP_001186168.1:p.Ala80Thr, NP_001186169.1:p.Ala80Ser, NP_001186169.1:p.Ala80Thr, XP_047275307.1:p.Ala80Ser, XP_047275307.1:p.Ala80Thr, XP_006715267.1:p.Ala80Ser, XP_006715267.1:p.Ala80Thr

                                      19.

                                      rs1437416101 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:31662451 (GRCh38)
                                        6:31630228 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:31662450:G:A
                                        Gene:
                                        GPANK1 (Varview), C6orf47 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.31662451G>A, NC_000006.11:g.31630228G>A, NT_113891.3:g.3139741G>A, NT_113891.2:g.3139847G>A, NT_167248.2:g.2918274G>A, NT_167248.1:g.2923870G>A, NT_167245.2:g.2910222G>A, NT_167245.1:g.2915807G>A, NT_167249.2:g.2961733G>A, NT_167249.1:g.2961031G>A, NT_167246.2:g.2967498G>A, NT_167246.1:g.2973118G>A, NT_167247.2:g.3004323G>A, NT_167247.1:g.3009908G>A, XM_005249403.4:c.886C>T, XM_005249403.3:c.886C>T, XM_005249403.2:c.886C>T, XM_005249403.1:c.886C>T, NM_033177.4:c.886C>T, NM_033177.3:c.886C>T, XM_011514909.2:c.886C>T, XM_011514909.1:c.886C>T, XM_011514910.2:c.886C>T, XM_011514910.1:c.886C>T, XM_024446549.2:c.886C>T, XM_024446549.1:c.886C>T, XM_047419350.1:c.886C>T, NM_001199237.1:c.886C>T, NM_001199238.1:c.886C>T, NM_001199239.1:c.886C>T, NM_001199240.1:c.886C>T, XM_047419351.1:c.886C>T, XM_006715204.2:c.886C>T, XM_006715204.1:c.886C>T

                                        20.

                                        rs1431064132 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:31662677 (GRCh38)
                                          6:31630454 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:31662676:G:A
                                          Gene:
                                          GPANK1 (Varview), C6orf47 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.31662677G>A, NC_000006.11:g.31630454G>A, NT_113891.3:g.3139967G>A, NT_113891.2:g.3140073G>A, NT_167248.2:g.2918500G>A, NT_167248.1:g.2924096G>A, NT_167245.2:g.2910448G>A, NT_167245.1:g.2916033G>A, NT_167249.2:g.2961959G>A, NT_167249.1:g.2961257G>A, NT_167246.2:g.2967724G>A, NT_167246.1:g.2973344G>A, NT_167247.2:g.3004549G>A, NT_167247.1:g.3010134G>A, XM_005249403.4:c.660C>T, XM_005249403.3:c.660C>T, XM_005249403.2:c.660C>T, XM_005249403.1:c.660C>T, NM_033177.4:c.660C>T, NM_033177.3:c.660C>T, XM_011514909.2:c.660C>T, XM_011514909.1:c.660C>T, XM_011514910.2:c.660C>T, XM_011514910.1:c.660C>T, XM_006715204.2:c.660C>T, XM_006715204.1:c.660C>T, XM_024446549.2:c.660C>T, XM_024446549.1:c.660C>T, XM_047419350.1:c.660C>T, NM_001199238.1:c.660C>T, NM_001199239.1:c.660C>T, NM_001199240.1:c.660C>T, XM_047419351.1:c.660C>T, NM_001199237.1:c.660C>T

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