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Items: 1 to 20 of 1550

1.

rs1490895508 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:114367652 (GRCh38)
    9:117129932 (GRCh37)
    Canonical SPDI:
    NC_000009.12:114367651:C:T
    Gene:
    AKNA (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.114367652C>T, NC_000009.11:g.117129932C>T, XM_005252247.6:c.1619G>A, XM_005252247.5:c.1619G>A, XM_005252247.4:c.1619G>A, XM_005252247.3:c.1619G>A, XM_005252247.2:c.1619G>A, XM_005252247.1:c.1619G>A, NM_030767.5:c.1619G>A, NM_030767.4:c.1619G>A, XR_929844.4:n.1855G>A, XR_929844.3:n.1855G>A, XR_929844.2:n.1949G>A, XR_929844.1:n.1855G>A, XM_005252248.4:c.1619G>A, XM_005252248.3:c.1619G>A, XM_005252248.2:c.1619G>A, XM_005252248.1:c.1619G>A, XM_011519066.4:c.1619G>A, XM_011519066.3:c.1619G>A, XM_011519066.2:c.1619G>A, XM_011519066.1:c.1619G>A, XM_005252244.3:c.1619G>A, XM_005252244.2:c.1619G>A, XM_005252244.1:c.1619G>A, XM_011519063.3:c.1262G>A, XM_011519063.2:c.1262G>A, XM_011519063.1:c.1262G>A, XM_011519065.3:c.1262G>A, XM_011519065.2:c.1262G>A, XM_011519065.1:c.1496G>A, XM_011519064.3:c.1619G>A, XM_011519064.2:c.1619G>A, XM_011519064.1:c.1619G>A, NM_001317950.2:c.1619G>A, NM_001317950.1:c.1619G>A, XM_005252245.2:c.1619G>A, XM_005252245.1:c.1619G>A, XM_006717294.2:c.1619G>A, XM_006717294.1:c.1619G>A, XM_047423922.1:c.1619G>A, XM_047423923.1:c.1466G>A, XM_047423925.1:c.1388G>A, XM_047423921.1:c.1619G>A, XM_047423924.1:c.1619G>A, NM_001317952.1:c.1262G>A, XM_047423926.1:c.1619G>A, XP_005252304.1:p.Ser540Asn, NP_110394.3:p.Ser540Asn, XP_005252305.1:p.Ser540Asn, XP_011517368.1:p.Ser540Asn, XP_005252301.1:p.Ser540Asn, XP_011517365.1:p.Ser421Asn, XP_011517367.2:p.Ser421Asn, XP_011517366.1:p.Ser540Asn, NP_001304879.1:p.Ser540Asn, XP_005252302.1:p.Ser540Asn, XP_006717357.1:p.Ser540Asn, XP_047279878.1:p.Ser540Asn, XP_047279879.1:p.Ser489Asn, XP_047279881.1:p.Ser463Asn, XP_047279877.1:p.Ser540Asn, XP_047279880.1:p.Ser540Asn, NP_001304881.1:p.Ser421Asn, XP_047279882.1:p.Ser540Asn

    2.

    rs1490225646 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      9:114341628 (GRCh38)
      9:117103908 (GRCh37)
      Canonical SPDI:
      NC_000009.12:114341627:T:G
      Gene:
      AKNA (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.114341628T>G, NC_000009.11:g.117103908T>G, XM_005252247.6:c.3972A>C, XM_005252247.5:c.3972A>C, XM_005252247.4:c.3972A>C, XM_005252247.3:c.3972A>C, XM_005252247.2:c.3972A>C, XM_005252247.1:c.3972A>C, NM_030767.5:c.3972A>C, NM_030767.4:c.3972A>C, XR_929844.4:n.4208A>C, XR_929844.3:n.4208A>C, XR_929844.2:n.4302A>C, XR_929844.1:n.4208A>C, XM_005252248.4:c.3876A>C, XM_005252248.3:c.3876A>C, XM_005252248.2:c.3876A>C, XM_005252248.1:c.3876A>C, XM_005252244.3:c.3972A>C, XM_005252244.2:c.3972A>C, XM_005252244.1:c.3972A>C, XM_011519063.3:c.3615A>C, XM_011519063.2:c.3615A>C, XM_011519063.1:c.3615A>C, XM_011519065.3:c.3615A>C, XM_011519065.2:c.3615A>C, XM_011519065.1:c.3849A>C, NM_001317950.2:c.3972A>C, NM_001317950.1:c.3972A>C, XM_005252245.2:c.3972A>C, XM_005252245.1:c.3972A>C, XM_006717294.2:c.3972A>C, XM_006717294.1:c.3972A>C, XM_047423922.1:c.3972A>C, XM_047423923.1:c.3819A>C, XM_047423925.1:c.3741A>C, XM_047423921.1:c.3972A>C, XM_047423924.1:c.3771A>C, NM_001317952.1:c.3615A>C

      3.

      rs1489661333 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        9:114356051 (GRCh38)
        9:117118331 (GRCh37)
        Canonical SPDI:
        NC_000009.12:114356050:G:T
        Gene:
        AKNA (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.0002/1 (ALFA)
        T=0.0002/1 (Estonian)
        HGVS:
        NC_000009.12:g.114356051G>T, NC_000009.11:g.117118331G>T, XM_005252247.6:c.2932C>A, XM_005252247.5:c.2932C>A, XM_005252247.4:c.2932C>A, XM_005252247.3:c.2932C>A, XM_005252247.2:c.2932C>A, XM_005252247.1:c.2932C>A, NM_030767.5:c.2932C>A, NM_030767.4:c.2932C>A, XR_929844.4:n.3168C>A, XR_929844.3:n.3168C>A, XR_929844.2:n.3262C>A, XR_929844.1:n.3168C>A, XM_005252248.4:c.2932C>A, XM_005252248.3:c.2932C>A, XM_005252248.2:c.2932C>A, XM_005252248.1:c.2932C>A, XM_005252244.3:c.2932C>A, XM_005252244.2:c.2932C>A, XM_005252244.1:c.2932C>A, XM_011519063.3:c.2575C>A, XM_011519063.2:c.2575C>A, XM_011519063.1:c.2575C>A, XM_011519065.3:c.2575C>A, XM_011519065.2:c.2575C>A, XM_011519065.1:c.2809C>A, XM_011519064.3:c.2932C>A, XM_011519064.2:c.2932C>A, XM_011519064.1:c.2932C>A, NM_001317950.2:c.2932C>A, NM_001317950.1:c.2932C>A, XM_005252245.2:c.2932C>A, XM_005252245.1:c.2932C>A, XM_006717294.2:c.2932C>A, XM_006717294.1:c.2932C>A, XM_047423922.1:c.2932C>A, XM_047423923.1:c.2779C>A, XM_047423925.1:c.2701C>A, XM_047423921.1:c.2932C>A, XM_047423924.1:c.2731C>A, NM_001317952.1:c.2575C>A, XM_047423926.1:c.2825C>A, XP_005252304.1:p.Pro978Thr, NP_110394.3:p.Pro978Thr, XP_005252305.1:p.Pro978Thr, XP_005252301.1:p.Pro978Thr, XP_011517365.1:p.Pro859Thr, XP_011517367.2:p.Pro859Thr, XP_011517366.1:p.Pro978Thr, NP_001304879.1:p.Pro978Thr, XP_005252302.1:p.Pro978Thr, XP_006717357.1:p.Pro978Thr, XP_047279878.1:p.Pro978Thr, XP_047279879.1:p.Pro927Thr, XP_047279881.1:p.Pro901Thr, XP_047279877.1:p.Pro978Thr, XP_047279880.1:p.Pro911Thr, NP_001304881.1:p.Pro859Thr, XP_047279882.1:p.Ser942Tyr

        4.

        rs1489633145 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          9:114337153 (GRCh38)
          9:117099433 (GRCh37)
          Canonical SPDI:
          NC_000009.12:114337152:C:A,NC_000009.12:114337152:C:T
          Gene:
          AKNA (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          HGVS:
          NC_000009.12:g.114337153C>A, NC_000009.12:g.114337153C>T, NC_000009.11:g.117099433C>A, NC_000009.11:g.117099433C>T, XM_005252247.6:c.4221G>T, XM_005252247.6:c.4221G>A, XM_005252247.5:c.4221G>T, XM_005252247.5:c.4221G>A, XM_005252247.4:c.4221G>T, XM_005252247.4:c.4221G>A, XM_005252247.3:c.4221G>T, XM_005252247.3:c.4221G>A, XM_005252247.2:c.4221G>T, XM_005252247.2:c.4221G>A, XM_005252247.1:c.4221G>T, XM_005252247.1:c.4221G>A, NM_030767.5:c.4221G>T, NM_030767.5:c.4221G>A, NM_030767.4:c.4221G>T, NM_030767.4:c.4221G>A, XR_929844.4:n.4457G>T, XR_929844.4:n.4457G>A, XR_929844.3:n.4457G>T, XR_929844.3:n.4457G>A, XR_929844.2:n.4551G>T, XR_929844.2:n.4551G>A, XR_929844.1:n.4457G>T, XR_929844.1:n.4457G>A, XM_005252248.4:c.4125G>T, XM_005252248.4:c.4125G>A, XM_005252248.3:c.4125G>T, XM_005252248.3:c.4125G>A, XM_005252248.2:c.4125G>T, XM_005252248.2:c.4125G>A, XM_005252248.1:c.4125G>T, XM_005252248.1:c.4125G>A, XM_005252244.3:c.4221G>T, XM_005252244.3:c.4221G>A, XM_005252244.2:c.4221G>T, XM_005252244.2:c.4221G>A, XM_005252244.1:c.4221G>T, XM_005252244.1:c.4221G>A, XM_011519063.3:c.3864G>T, XM_011519063.3:c.3864G>A, XM_011519063.2:c.3864G>T, XM_011519063.2:c.3864G>A, XM_011519063.1:c.3864G>T, XM_011519063.1:c.3864G>A, XM_011519065.3:c.3864G>T, XM_011519065.3:c.3864G>A, XM_011519065.2:c.3864G>T, XM_011519065.2:c.3864G>A, XM_011519065.1:c.4098G>T, XM_011519065.1:c.4098G>A, NM_001317950.2:c.4221G>T, NM_001317950.2:c.4221G>A, NM_001317950.1:c.4221G>T, NM_001317950.1:c.4221G>A, XM_005252245.2:c.4221G>T, XM_005252245.2:c.4221G>A, XM_005252245.1:c.4221G>T, XM_005252245.1:c.4221G>A, XM_006717294.2:c.4221G>T, XM_006717294.2:c.4221G>A, XM_006717294.1:c.4221G>T, XM_006717294.1:c.4221G>A, XM_047423922.1:c.4221G>T, XM_047423922.1:c.4221G>A, XM_047423923.1:c.4068G>T, XM_047423923.1:c.4068G>A, XM_047423925.1:c.3990G>T, XM_047423925.1:c.3990G>A, XM_047423921.1:c.4221G>T, XM_047423921.1:c.4221G>A, XM_047423924.1:c.4020G>T, XM_047423924.1:c.4020G>A, NM_001317952.1:c.3864G>T, NM_001317952.1:c.3864G>A, XP_005252304.1:p.Gln1407His, NP_110394.3:p.Gln1407His, XP_005252305.1:p.Gln1375His, XP_005252301.1:p.Gln1407His, XP_011517365.1:p.Gln1288His, XP_011517367.2:p.Gln1288His, NP_001304879.1:p.Gln1407His, XP_005252302.1:p.Gln1407His, XP_006717357.1:p.Gln1407His, XP_047279878.1:p.Gln1407His, XP_047279879.1:p.Gln1356His, XP_047279881.1:p.Gln1330His, XP_047279877.1:p.Gln1407His, XP_047279880.1:p.Gln1340His, NP_001304881.1:p.Gln1288His

          5.

          rs1489239007 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:114358144 (GRCh38)
            9:117120424 (GRCh37)
            Canonical SPDI:
            NC_000009.12:114358143:G:A
            Gene:
            AKNA (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.114358144G>A, NC_000009.11:g.117120424G>A, XM_005252247.6:c.2516C>T, XM_005252247.5:c.2516C>T, XM_005252247.4:c.2516C>T, XM_005252247.3:c.2516C>T, XM_005252247.2:c.2516C>T, XM_005252247.1:c.2516C>T, NM_030767.5:c.2516C>T, NM_030767.4:c.2516C>T, XR_929844.4:n.2752C>T, XR_929844.3:n.2752C>T, XR_929844.2:n.2846C>T, XR_929844.1:n.2752C>T, XM_005252248.4:c.2516C>T, XM_005252248.3:c.2516C>T, XM_005252248.2:c.2516C>T, XM_005252248.1:c.2516C>T, XM_005252244.3:c.2516C>T, XM_005252244.2:c.2516C>T, XM_005252244.1:c.2516C>T, XM_011519063.3:c.2159C>T, XM_011519063.2:c.2159C>T, XM_011519063.1:c.2159C>T, XM_011519065.3:c.2159C>T, XM_011519065.2:c.2159C>T, XM_011519065.1:c.2393C>T, XM_011519064.3:c.2516C>T, XM_011519064.2:c.2516C>T, XM_011519064.1:c.2516C>T, NM_001317950.2:c.2516C>T, NM_001317950.1:c.2516C>T, XM_005252245.2:c.2516C>T, XM_005252245.1:c.2516C>T, XM_006717294.2:c.2516C>T, XM_006717294.1:c.2516C>T, XM_047423922.1:c.2516C>T, XM_047423923.1:c.2363C>T, XM_047423925.1:c.2285C>T, XM_047423921.1:c.2516C>T, XM_047423924.1:c.2315C>T, NM_001317952.1:c.2159C>T, XM_047423926.1:c.2516C>T, XP_005252304.1:p.Ser839Phe, NP_110394.3:p.Ser839Phe, XP_005252305.1:p.Ser839Phe, XP_005252301.1:p.Ser839Phe, XP_011517365.1:p.Ser720Phe, XP_011517367.2:p.Ser720Phe, XP_011517366.1:p.Ser839Phe, NP_001304879.1:p.Ser839Phe, XP_005252302.1:p.Ser839Phe, XP_006717357.1:p.Ser839Phe, XP_047279878.1:p.Ser839Phe, XP_047279879.1:p.Ser788Phe, XP_047279881.1:p.Ser762Phe, XP_047279877.1:p.Ser839Phe, XP_047279880.1:p.Ser772Phe, NP_001304881.1:p.Ser720Phe, XP_047279882.1:p.Ser839Phe

            6.

            rs1488709277 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              9:114356058 (GRCh38)
              9:117118338 (GRCh37)
              Canonical SPDI:
              NC_000009.12:114356057:A:G,NC_000009.12:114356057:A:T
              Gene:
              AKNA (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.114356058A>G, NC_000009.12:g.114356058A>T, NC_000009.11:g.117118338A>G, NC_000009.11:g.117118338A>T, XM_005252247.6:c.2925T>C, XM_005252247.6:c.2925T>A, XM_005252247.5:c.2925T>C, XM_005252247.5:c.2925T>A, XM_005252247.4:c.2925T>C, XM_005252247.4:c.2925T>A, XM_005252247.3:c.2925T>C, XM_005252247.3:c.2925T>A, XM_005252247.2:c.2925T>C, XM_005252247.2:c.2925T>A, XM_005252247.1:c.2925T>C, XM_005252247.1:c.2925T>A, NM_030767.5:c.2925T>C, NM_030767.5:c.2925T>A, NM_030767.4:c.2925T>C, NM_030767.4:c.2925T>A, XR_929844.4:n.3161T>C, XR_929844.4:n.3161T>A, XR_929844.3:n.3161T>C, XR_929844.3:n.3161T>A, XR_929844.2:n.3255T>C, XR_929844.2:n.3255T>A, XR_929844.1:n.3161T>C, XR_929844.1:n.3161T>A, XM_005252248.4:c.2925T>C, XM_005252248.4:c.2925T>A, XM_005252248.3:c.2925T>C, XM_005252248.3:c.2925T>A, XM_005252248.2:c.2925T>C, XM_005252248.2:c.2925T>A, XM_005252248.1:c.2925T>C, XM_005252248.1:c.2925T>A, XM_005252244.3:c.2925T>C, XM_005252244.3:c.2925T>A, XM_005252244.2:c.2925T>C, XM_005252244.2:c.2925T>A, XM_005252244.1:c.2925T>C, XM_005252244.1:c.2925T>A, XM_011519063.3:c.2568T>C, XM_011519063.3:c.2568T>A, XM_011519063.2:c.2568T>C, XM_011519063.2:c.2568T>A, XM_011519063.1:c.2568T>C, XM_011519063.1:c.2568T>A, XM_011519065.3:c.2568T>C, XM_011519065.3:c.2568T>A, XM_011519065.2:c.2568T>C, XM_011519065.2:c.2568T>A, XM_011519065.1:c.2802T>C, XM_011519065.1:c.2802T>A, XM_011519064.3:c.2925T>C, XM_011519064.3:c.2925T>A, XM_011519064.2:c.2925T>C, XM_011519064.2:c.2925T>A, XM_011519064.1:c.2925T>C, XM_011519064.1:c.2925T>A, NM_001317950.2:c.2925T>C, NM_001317950.2:c.2925T>A, NM_001317950.1:c.2925T>C, NM_001317950.1:c.2925T>A, XM_005252245.2:c.2925T>C, XM_005252245.2:c.2925T>A, XM_005252245.1:c.2925T>C, XM_005252245.1:c.2925T>A, XM_006717294.2:c.2925T>C, XM_006717294.2:c.2925T>A, XM_006717294.1:c.2925T>C, XM_006717294.1:c.2925T>A, XM_047423922.1:c.2925T>C, XM_047423922.1:c.2925T>A, XM_047423923.1:c.2772T>C, XM_047423923.1:c.2772T>A, XM_047423925.1:c.2694T>C, XM_047423925.1:c.2694T>A, XM_047423921.1:c.2925T>C, XM_047423921.1:c.2925T>A, XM_047423924.1:c.2724T>C, XM_047423924.1:c.2724T>A, NM_001317952.1:c.2568T>C, NM_001317952.1:c.2568T>A, XM_047423926.1:c.2818T>C, XM_047423926.1:c.2818T>A, XP_047279882.1:p.Ser940Pro, XP_047279882.1:p.Ser940Thr

              7.

              rs1487576141 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                9:114377214 (GRCh38)
                9:117139494 (GRCh37)
                Canonical SPDI:
                NC_000009.12:114377213:G:A,NC_000009.12:114377213:G:T
                Gene:
                AKNA (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.114377214G>A, NC_000009.12:g.114377214G>T, NC_000009.11:g.117139494G>A, NC_000009.11:g.117139494G>T, XM_005252247.6:c.593C>T, XM_005252247.6:c.593C>A, XM_005252247.5:c.593C>T, XM_005252247.5:c.593C>A, XM_005252247.4:c.593C>T, XM_005252247.4:c.593C>A, XM_005252247.3:c.593C>T, XM_005252247.3:c.593C>A, XM_005252247.2:c.593C>T, XM_005252247.2:c.593C>A, XM_005252247.1:c.593C>T, XM_005252247.1:c.593C>A, NM_030767.5:c.593C>T, NM_030767.5:c.593C>A, NM_030767.4:c.593C>T, NM_030767.4:c.593C>A, XR_929844.4:n.829C>T, XR_929844.4:n.829C>A, XR_929844.3:n.829C>T, XR_929844.3:n.829C>A, XR_929844.2:n.923C>T, XR_929844.2:n.923C>A, XR_929844.1:n.829C>T, XR_929844.1:n.829C>A, XM_005252248.4:c.593C>T, XM_005252248.4:c.593C>A, XM_005252248.3:c.593C>T, XM_005252248.3:c.593C>A, XM_005252248.2:c.593C>T, XM_005252248.2:c.593C>A, XM_005252248.1:c.593C>T, XM_005252248.1:c.593C>A, XM_011519066.4:c.593C>T, XM_011519066.4:c.593C>A, XM_011519066.3:c.593C>T, XM_011519066.3:c.593C>A, XM_011519066.2:c.593C>T, XM_011519066.2:c.593C>A, XM_011519066.1:c.593C>T, XM_011519066.1:c.593C>A, XM_005252244.3:c.593C>T, XM_005252244.3:c.593C>A, XM_005252244.2:c.593C>T, XM_005252244.2:c.593C>A, XM_005252244.1:c.593C>T, XM_005252244.1:c.593C>A, XM_011519063.3:c.236C>T, XM_011519063.3:c.236C>A, XM_011519063.2:c.236C>T, XM_011519063.2:c.236C>A, XM_011519063.1:c.236C>T, XM_011519063.1:c.236C>A, XM_011519065.3:c.236C>T, XM_011519065.3:c.236C>A, XM_011519065.2:c.236C>T, XM_011519065.2:c.236C>A, XM_011519065.1:c.470C>T, XM_011519065.1:c.470C>A, XM_011519064.3:c.593C>T, XM_011519064.3:c.593C>A, XM_011519064.2:c.593C>T, XM_011519064.2:c.593C>A, XM_011519064.1:c.593C>T, XM_011519064.1:c.593C>A, NM_001317950.2:c.593C>T, NM_001317950.2:c.593C>A, NM_001317950.1:c.593C>T, NM_001317950.1:c.593C>A, XM_005252245.2:c.593C>T, XM_005252245.2:c.593C>A, XM_005252245.1:c.593C>T, XM_005252245.1:c.593C>A, XM_006717294.2:c.593C>T, XM_006717294.2:c.593C>A, XM_006717294.1:c.593C>T, XM_006717294.1:c.593C>A, XM_047423922.1:c.593C>T, XM_047423922.1:c.593C>A, XM_047423923.1:c.440C>T, XM_047423923.1:c.440C>A, XM_047423925.1:c.362C>T, XM_047423925.1:c.362C>A, XM_047423921.1:c.593C>T, XM_047423921.1:c.593C>A, XM_047423924.1:c.593C>T, XM_047423924.1:c.593C>A, NM_001317952.1:c.236C>T, NM_001317952.1:c.236C>A, XM_047423926.1:c.593C>T, XM_047423926.1:c.593C>A, XP_005252304.1:p.Ala198Val, XP_005252304.1:p.Ala198Glu, NP_110394.3:p.Ala198Val, NP_110394.3:p.Ala198Glu, XP_005252305.1:p.Ala198Val, XP_005252305.1:p.Ala198Glu, XP_011517368.1:p.Ala198Val, XP_011517368.1:p.Ala198Glu, XP_005252301.1:p.Ala198Val, XP_005252301.1:p.Ala198Glu, XP_011517365.1:p.Ala79Val, XP_011517365.1:p.Ala79Glu, XP_011517367.2:p.Ala79Val, XP_011517367.2:p.Ala79Glu, XP_011517366.1:p.Ala198Val, XP_011517366.1:p.Ala198Glu, NP_001304879.1:p.Ala198Val, NP_001304879.1:p.Ala198Glu, XP_005252302.1:p.Ala198Val, XP_005252302.1:p.Ala198Glu, XP_006717357.1:p.Ala198Val, XP_006717357.1:p.Ala198Glu, XP_047279878.1:p.Ala198Val, XP_047279878.1:p.Ala198Glu, XP_047279879.1:p.Ala147Val, XP_047279879.1:p.Ala147Glu, XP_047279881.1:p.Ala121Val, XP_047279881.1:p.Ala121Glu, XP_047279877.1:p.Ala198Val, XP_047279877.1:p.Ala198Glu, XP_047279880.1:p.Ala198Val, XP_047279880.1:p.Ala198Glu, NP_001304881.1:p.Ala79Val, NP_001304881.1:p.Ala79Glu, XP_047279882.1:p.Ala198Val, XP_047279882.1:p.Ala198Glu

                8.

                rs1486473957 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  9:114381289 (GRCh38)
                  9:117143569 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:114381288:C:A,NC_000009.12:114381288:C:G,NC_000009.12:114381288:C:T
                  Gene:
                  AKNA (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  NC_000009.12:g.114381289C>A, NC_000009.12:g.114381289C>G, NC_000009.12:g.114381289C>T, NC_000009.11:g.117143569C>A, NC_000009.11:g.117143569C>G, NC_000009.11:g.117143569C>T, XM_005252247.6:c.45G>T, XM_005252247.6:c.45G>C, XM_005252247.6:c.45G>A, XM_005252247.5:c.45G>T, XM_005252247.5:c.45G>C, XM_005252247.5:c.45G>A, XM_005252247.4:c.45G>T, XM_005252247.4:c.45G>C, XM_005252247.4:c.45G>A, XM_005252247.3:c.45G>T, XM_005252247.3:c.45G>C, XM_005252247.3:c.45G>A, XM_005252247.2:c.45G>T, XM_005252247.2:c.45G>C, XM_005252247.2:c.45G>A, XM_005252247.1:c.45G>T, XM_005252247.1:c.45G>C, XM_005252247.1:c.45G>A, NM_030767.5:c.45G>T, NM_030767.5:c.45G>C, NM_030767.5:c.45G>A, NM_030767.4:c.45G>T, NM_030767.4:c.45G>C, NM_030767.4:c.45G>A, XR_929844.4:n.281G>T, XR_929844.4:n.281G>C, XR_929844.4:n.281G>A, XR_929844.3:n.281G>T, XR_929844.3:n.281G>C, XR_929844.3:n.281G>A, XR_929844.2:n.375G>T, XR_929844.2:n.375G>C, XR_929844.2:n.375G>A, XR_929844.1:n.281G>T, XR_929844.1:n.281G>C, XR_929844.1:n.281G>A, XM_005252248.4:c.45G>T, XM_005252248.4:c.45G>C, XM_005252248.4:c.45G>A, XM_005252248.3:c.45G>T, XM_005252248.3:c.45G>C, XM_005252248.3:c.45G>A, XM_005252248.2:c.45G>T, XM_005252248.2:c.45G>C, XM_005252248.2:c.45G>A, XM_005252248.1:c.45G>T, XM_005252248.1:c.45G>C, XM_005252248.1:c.45G>A, XM_011519066.4:c.45G>T, XM_011519066.4:c.45G>C, XM_011519066.4:c.45G>A, XM_011519066.3:c.45G>T, XM_011519066.3:c.45G>C, XM_011519066.3:c.45G>A, XM_011519066.2:c.45G>T, XM_011519066.2:c.45G>C, XM_011519066.2:c.45G>A, XM_011519066.1:c.45G>T, XM_011519066.1:c.45G>C, XM_011519066.1:c.45G>A, XM_005252244.3:c.45G>T, XM_005252244.3:c.45G>C, XM_005252244.3:c.45G>A, XM_005252244.2:c.45G>T, XM_005252244.2:c.45G>C, XM_005252244.2:c.45G>A, XM_005252244.1:c.45G>T, XM_005252244.1:c.45G>C, XM_005252244.1:c.45G>A, XM_011519064.3:c.45G>T, XM_011519064.3:c.45G>C, XM_011519064.3:c.45G>A, XM_011519064.2:c.45G>T, XM_011519064.2:c.45G>C, XM_011519064.2:c.45G>A, XM_011519064.1:c.45G>T, XM_011519064.1:c.45G>C, XM_011519064.1:c.45G>A, NM_001317950.2:c.45G>T, NM_001317950.2:c.45G>C, NM_001317950.2:c.45G>A, NM_001317950.1:c.45G>T, NM_001317950.1:c.45G>C, NM_001317950.1:c.45G>A, XM_005252245.2:c.45G>T, XM_005252245.2:c.45G>C, XM_005252245.2:c.45G>A, XM_005252245.1:c.45G>T, XM_005252245.1:c.45G>C, XM_005252245.1:c.45G>A, XM_006717294.2:c.45G>T, XM_006717294.2:c.45G>C, XM_006717294.2:c.45G>A, XM_006717294.1:c.45G>T, XM_006717294.1:c.45G>C, XM_006717294.1:c.45G>A, XM_047423922.1:c.45G>T, XM_047423922.1:c.45G>C, XM_047423922.1:c.45G>A, XM_047423921.1:c.45G>T, XM_047423921.1:c.45G>C, XM_047423921.1:c.45G>A, XM_047423924.1:c.45G>T, XM_047423924.1:c.45G>C, XM_047423924.1:c.45G>A, XM_047423926.1:c.45G>T, XM_047423926.1:c.45G>C, XM_047423926.1:c.45G>A

                  9.

                  rs1486298351 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    9:114350955 (GRCh38)
                    9:117113236 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:114350955:TT:TTT
                    Gene:
                    AKNA (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.114350957dup, NC_000009.11:g.117113237dup, XM_005252247.6:c.3124dup, XM_005252247.5:c.3124dup, XM_005252247.4:c.3124dup, XM_005252247.3:c.3124dup, XM_005252247.2:c.3124dup, XM_005252247.1:c.3124dup, NM_030767.5:c.3124dup, NM_030767.4:c.3124dup, XR_929844.4:n.3360dup, XR_929844.3:n.3360dup, XR_929844.2:n.3454dup, XR_929844.1:n.3360dup, XM_005252248.4:c.3124dup, XM_005252248.3:c.3124dup, XM_005252248.2:c.3124dup, XM_005252248.1:c.3124dup, XM_005252244.3:c.3124dup, XM_005252244.2:c.3124dup, XM_005252244.1:c.3124dup, XM_011519063.3:c.2767dup, XM_011519063.2:c.2767dup, XM_011519063.1:c.2767dup, XM_011519065.3:c.2767dup, XM_011519065.2:c.2767dup, XM_011519065.1:c.3001dup, XM_011519064.3:c.3124dup, XM_011519064.2:c.3124dup, XM_011519064.1:c.3124dup, NM_001317950.2:c.3124dup, NM_001317950.1:c.3124dup, XM_005252245.2:c.3124dup, XM_005252245.1:c.3124dup, XM_006717294.2:c.3124dup, XM_006717294.1:c.3124dup, XM_047423922.1:c.3124dup, XM_047423923.1:c.2971dup, XM_047423925.1:c.2893dup, XM_047423921.1:c.3124dup, XM_047423924.1:c.2923dup, NM_001317952.1:c.2767dup, XM_047423926.1:c.*44dup, XP_005252304.1:p.Ile1042fs, NP_110394.3:p.Ile1042fs, XP_005252305.1:p.Ile1042fs, XP_005252301.1:p.Ile1042fs, XP_011517365.1:p.Ile923fs, XP_011517367.2:p.Ile923fs, XP_011517366.1:p.Ile1042fs, NP_001304879.1:p.Ile1042fs, XP_005252302.1:p.Ile1042fs, XP_006717357.1:p.Ile1042fs, XP_047279878.1:p.Ile1042fs, XP_047279879.1:p.Ile991fs, XP_047279881.1:p.Ile965fs, XP_047279877.1:p.Ile1042fs, XP_047279880.1:p.Ile975fs, NP_001304881.1:p.Ile923fs

                    10.

                    rs1486249269 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      9:114346731 (GRCh38)
                      9:117109011 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:114346730:G:A,NC_000009.12:114346730:G:C
                      Gene:
                      AKNA (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.114346731G>A, NC_000009.12:g.114346731G>C, NC_000009.11:g.117109011G>A, NC_000009.11:g.117109011G>C, XM_005252247.6:c.3452C>T, XM_005252247.6:c.3452C>G, XM_005252247.5:c.3452C>T, XM_005252247.5:c.3452C>G, XM_005252247.4:c.3452C>T, XM_005252247.4:c.3452C>G, XM_005252247.3:c.3452C>T, XM_005252247.3:c.3452C>G, XM_005252247.2:c.3452C>T, XM_005252247.2:c.3452C>G, XM_005252247.1:c.3452C>T, XM_005252247.1:c.3452C>G, NM_030767.5:c.3452C>T, NM_030767.5:c.3452C>G, NM_030767.4:c.3452C>T, NM_030767.4:c.3452C>G, XR_929844.4:n.3688C>T, XR_929844.4:n.3688C>G, XR_929844.3:n.3688C>T, XR_929844.3:n.3688C>G, XR_929844.2:n.3782C>T, XR_929844.2:n.3782C>G, XR_929844.1:n.3688C>T, XR_929844.1:n.3688C>G, XM_005252248.4:c.3452C>T, XM_005252248.4:c.3452C>G, XM_005252248.3:c.3452C>T, XM_005252248.3:c.3452C>G, XM_005252248.2:c.3452C>T, XM_005252248.2:c.3452C>G, XM_005252248.1:c.3452C>T, XM_005252248.1:c.3452C>G, XM_005252244.3:c.3452C>T, XM_005252244.3:c.3452C>G, XM_005252244.2:c.3452C>T, XM_005252244.2:c.3452C>G, XM_005252244.1:c.3452C>T, XM_005252244.1:c.3452C>G, XM_011519063.3:c.3095C>T, XM_011519063.3:c.3095C>G, XM_011519063.2:c.3095C>T, XM_011519063.2:c.3095C>G, XM_011519063.1:c.3095C>T, XM_011519063.1:c.3095C>G, XM_011519065.3:c.3095C>T, XM_011519065.3:c.3095C>G, XM_011519065.2:c.3095C>T, XM_011519065.2:c.3095C>G, XM_011519065.1:c.3329C>T, XM_011519065.1:c.3329C>G, XM_011519064.3:c.3452C>T, XM_011519064.3:c.3452C>G, XM_011519064.2:c.3452C>T, XM_011519064.2:c.3452C>G, XM_011519064.1:c.3452C>T, XM_011519064.1:c.3452C>G, NM_001317950.2:c.3452C>T, NM_001317950.2:c.3452C>G, NM_001317950.1:c.3452C>T, NM_001317950.1:c.3452C>G, XM_005252245.2:c.3452C>T, XM_005252245.2:c.3452C>G, XM_005252245.1:c.3452C>T, XM_005252245.1:c.3452C>G, XM_006717294.2:c.3452C>T, XM_006717294.2:c.3452C>G, XM_006717294.1:c.3452C>T, XM_006717294.1:c.3452C>G, XM_047423922.1:c.3452C>T, XM_047423922.1:c.3452C>G, XM_047423923.1:c.3299C>T, XM_047423923.1:c.3299C>G, XM_047423925.1:c.3221C>T, XM_047423925.1:c.3221C>G, XM_047423921.1:c.3452C>T, XM_047423921.1:c.3452C>G, XM_047423924.1:c.3251C>T, XM_047423924.1:c.3251C>G, NM_001317952.1:c.3095C>T, NM_001317952.1:c.3095C>G, XP_005252304.1:p.Pro1151Leu, XP_005252304.1:p.Pro1151Arg, NP_110394.3:p.Pro1151Leu, NP_110394.3:p.Pro1151Arg, XP_005252305.1:p.Pro1151Leu, XP_005252305.1:p.Pro1151Arg, XP_005252301.1:p.Pro1151Leu, XP_005252301.1:p.Pro1151Arg, XP_011517365.1:p.Pro1032Leu, XP_011517365.1:p.Pro1032Arg, XP_011517367.2:p.Pro1032Leu, XP_011517367.2:p.Pro1032Arg, XP_011517366.1:p.Pro1151Leu, XP_011517366.1:p.Pro1151Arg, NP_001304879.1:p.Pro1151Leu, NP_001304879.1:p.Pro1151Arg, XP_005252302.1:p.Pro1151Leu, XP_005252302.1:p.Pro1151Arg, XP_006717357.1:p.Pro1151Leu, XP_006717357.1:p.Pro1151Arg, XP_047279878.1:p.Pro1151Leu, XP_047279878.1:p.Pro1151Arg, XP_047279879.1:p.Pro1100Leu, XP_047279879.1:p.Pro1100Arg, XP_047279881.1:p.Pro1074Leu, XP_047279881.1:p.Pro1074Arg, XP_047279877.1:p.Pro1151Leu, XP_047279877.1:p.Pro1151Arg, XP_047279880.1:p.Pro1084Leu, XP_047279880.1:p.Pro1084Arg, NP_001304881.1:p.Pro1032Leu, NP_001304881.1:p.Pro1032Arg

                      11.

                      rs1485809987 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:114377136 (GRCh38)
                        9:117139416 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:114377135:T:C
                        Gene:
                        AKNA (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000224/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000223/1 (Estonian)
                        HGVS:
                        NC_000009.12:g.114377136T>C, NC_000009.11:g.117139416T>C, XM_005252247.6:c.671A>G, XM_005252247.5:c.671A>G, XM_005252247.4:c.671A>G, XM_005252247.3:c.671A>G, XM_005252247.2:c.671A>G, XM_005252247.1:c.671A>G, NM_030767.5:c.671A>G, NM_030767.4:c.671A>G, XR_929844.4:n.907A>G, XR_929844.3:n.907A>G, XR_929844.2:n.1001A>G, XR_929844.1:n.907A>G, XM_005252248.4:c.671A>G, XM_005252248.3:c.671A>G, XM_005252248.2:c.671A>G, XM_005252248.1:c.671A>G, XM_011519066.4:c.671A>G, XM_011519066.3:c.671A>G, XM_011519066.2:c.671A>G, XM_011519066.1:c.671A>G, XM_005252244.3:c.671A>G, XM_005252244.2:c.671A>G, XM_005252244.1:c.671A>G, XM_011519063.3:c.314A>G, XM_011519063.2:c.314A>G, XM_011519063.1:c.314A>G, XM_011519065.3:c.314A>G, XM_011519065.2:c.314A>G, XM_011519065.1:c.548A>G, XM_011519064.3:c.671A>G, XM_011519064.2:c.671A>G, XM_011519064.1:c.671A>G, NM_001317950.2:c.671A>G, NM_001317950.1:c.671A>G, XM_005252245.2:c.671A>G, XM_005252245.1:c.671A>G, XM_006717294.2:c.671A>G, XM_006717294.1:c.671A>G, XM_047423922.1:c.671A>G, XM_047423923.1:c.518A>G, XM_047423925.1:c.440A>G, XM_047423921.1:c.671A>G, XM_047423924.1:c.671A>G, NM_001317952.1:c.314A>G, XM_047423926.1:c.671A>G, XP_005252304.1:p.Asp224Gly, NP_110394.3:p.Asp224Gly, XP_005252305.1:p.Asp224Gly, XP_011517368.1:p.Asp224Gly, XP_005252301.1:p.Asp224Gly, XP_011517365.1:p.Asp105Gly, XP_011517367.2:p.Asp105Gly, XP_011517366.1:p.Asp224Gly, NP_001304879.1:p.Asp224Gly, XP_005252302.1:p.Asp224Gly, XP_006717357.1:p.Asp224Gly, XP_047279878.1:p.Asp224Gly, XP_047279879.1:p.Asp173Gly, XP_047279881.1:p.Asp147Gly, XP_047279877.1:p.Asp224Gly, XP_047279880.1:p.Asp224Gly, NP_001304881.1:p.Asp105Gly, XP_047279882.1:p.Asp224Gly

                        12.

                        rs1484656315 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:114356080 (GRCh38)
                          9:117118360 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:114356079:G:A
                          Gene:
                          AKNA (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.114356080G>A, NC_000009.11:g.117118360G>A, XM_005252247.6:c.2903C>T, XM_005252247.5:c.2903C>T, XM_005252247.4:c.2903C>T, XM_005252247.3:c.2903C>T, XM_005252247.2:c.2903C>T, XM_005252247.1:c.2903C>T, NM_030767.5:c.2903C>T, NM_030767.4:c.2903C>T, XR_929844.4:n.3139C>T, XR_929844.3:n.3139C>T, XR_929844.2:n.3233C>T, XR_929844.1:n.3139C>T, XM_005252248.4:c.2903C>T, XM_005252248.3:c.2903C>T, XM_005252248.2:c.2903C>T, XM_005252248.1:c.2903C>T, XM_005252244.3:c.2903C>T, XM_005252244.2:c.2903C>T, XM_005252244.1:c.2903C>T, XM_011519063.3:c.2546C>T, XM_011519063.2:c.2546C>T, XM_011519063.1:c.2546C>T, XM_011519065.3:c.2546C>T, XM_011519065.2:c.2546C>T, XM_011519065.1:c.2780C>T, XM_011519064.3:c.2903C>T, XM_011519064.2:c.2903C>T, XM_011519064.1:c.2903C>T, NM_001317950.2:c.2903C>T, NM_001317950.1:c.2903C>T, XM_005252245.2:c.2903C>T, XM_005252245.1:c.2903C>T, XM_006717294.2:c.2903C>T, XM_006717294.1:c.2903C>T, XM_047423922.1:c.2903C>T, XM_047423923.1:c.2750C>T, XM_047423925.1:c.2672C>T, XM_047423921.1:c.2903C>T, XM_047423924.1:c.2702C>T, NM_001317952.1:c.2546C>T, XM_047423926.1:c.2796C>T, XP_005252304.1:p.Ser968Phe, NP_110394.3:p.Ser968Phe, XP_005252305.1:p.Ser968Phe, XP_005252301.1:p.Ser968Phe, XP_011517365.1:p.Ser849Phe, XP_011517367.2:p.Ser849Phe, XP_011517366.1:p.Ser968Phe, NP_001304879.1:p.Ser968Phe, XP_005252302.1:p.Ser968Phe, XP_006717357.1:p.Ser968Phe, XP_047279878.1:p.Ser968Phe, XP_047279879.1:p.Ser917Phe, XP_047279881.1:p.Ser891Phe, XP_047279877.1:p.Ser968Phe, XP_047279880.1:p.Ser901Phe, NP_001304881.1:p.Ser849Phe

                          13.

                          rs1484646534 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:114347852 (GRCh38)
                            9:117110132 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:114347851:C:T
                            Gene:
                            AKNA (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            HGVS:
                            NC_000009.12:g.114347852C>T, NC_000009.11:g.117110132C>T, XM_005252247.6:c.3270G>A, XM_005252247.5:c.3270G>A, XM_005252247.4:c.3270G>A, XM_005252247.3:c.3270G>A, XM_005252247.2:c.3270G>A, XM_005252247.1:c.3270G>A, NM_030767.5:c.3270G>A, NM_030767.4:c.3270G>A, XR_929844.4:n.3506G>A, XR_929844.3:n.3506G>A, XR_929844.2:n.3600G>A, XR_929844.1:n.3506G>A, XM_005252248.4:c.3270G>A, XM_005252248.3:c.3270G>A, XM_005252248.2:c.3270G>A, XM_005252248.1:c.3270G>A, XM_005252244.3:c.3270G>A, XM_005252244.2:c.3270G>A, XM_005252244.1:c.3270G>A, XM_011519063.3:c.2913G>A, XM_011519063.2:c.2913G>A, XM_011519063.1:c.2913G>A, XM_011519065.3:c.2913G>A, XM_011519065.2:c.2913G>A, XM_011519065.1:c.3147G>A, XM_011519064.3:c.3270G>A, XM_011519064.2:c.3270G>A, XM_011519064.1:c.3270G>A, NM_001317950.2:c.3270G>A, NM_001317950.1:c.3270G>A, XM_005252245.2:c.3270G>A, XM_005252245.1:c.3270G>A, XM_006717294.2:c.3270G>A, XM_006717294.1:c.3270G>A, XM_047423922.1:c.3270G>A, XM_047423923.1:c.3117G>A, XM_047423925.1:c.3039G>A, XM_047423921.1:c.3270G>A, XM_047423924.1:c.3069G>A, NM_001317952.1:c.2913G>A

                            14.

                            rs1483807851 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:114357931 (GRCh38)
                              9:117120211 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:114357930:G:A
                              Gene:
                              AKNA (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.114357931G>A, NC_000009.11:g.117120211G>A, XM_005252247.6:c.2729C>T, XM_005252247.5:c.2729C>T, XM_005252247.4:c.2729C>T, XM_005252247.3:c.2729C>T, XM_005252247.2:c.2729C>T, XM_005252247.1:c.2729C>T, NM_030767.5:c.2729C>T, NM_030767.4:c.2729C>T, XR_929844.4:n.2965C>T, XR_929844.3:n.2965C>T, XR_929844.2:n.3059C>T, XR_929844.1:n.2965C>T, XM_005252248.4:c.2729C>T, XM_005252248.3:c.2729C>T, XM_005252248.2:c.2729C>T, XM_005252248.1:c.2729C>T, XM_005252244.3:c.2729C>T, XM_005252244.2:c.2729C>T, XM_005252244.1:c.2729C>T, XM_011519063.3:c.2372C>T, XM_011519063.2:c.2372C>T, XM_011519063.1:c.2372C>T, XM_011519065.3:c.2372C>T, XM_011519065.2:c.2372C>T, XM_011519065.1:c.2606C>T, XM_011519064.3:c.2729C>T, XM_011519064.2:c.2729C>T, XM_011519064.1:c.2729C>T, NM_001317950.2:c.2729C>T, NM_001317950.1:c.2729C>T, XM_005252245.2:c.2729C>T, XM_005252245.1:c.2729C>T, XM_006717294.2:c.2729C>T, XM_006717294.1:c.2729C>T, XM_047423922.1:c.2729C>T, XM_047423923.1:c.2576C>T, XM_047423925.1:c.2498C>T, XM_047423921.1:c.2729C>T, XM_047423924.1:c.2528C>T, NM_001317952.1:c.2372C>T, XM_047423926.1:c.2729C>T, XP_005252304.1:p.Pro910Leu, NP_110394.3:p.Pro910Leu, XP_005252305.1:p.Pro910Leu, XP_005252301.1:p.Pro910Leu, XP_011517365.1:p.Pro791Leu, XP_011517367.2:p.Pro791Leu, XP_011517366.1:p.Pro910Leu, NP_001304879.1:p.Pro910Leu, XP_005252302.1:p.Pro910Leu, XP_006717357.1:p.Pro910Leu, XP_047279878.1:p.Pro910Leu, XP_047279879.1:p.Pro859Leu, XP_047279881.1:p.Pro833Leu, XP_047279877.1:p.Pro910Leu, XP_047279880.1:p.Pro843Leu, NP_001304881.1:p.Pro791Leu, XP_047279882.1:p.Pro910Leu

                              15.

                              rs1483732409 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:114337178 (GRCh38)
                                9:117099458 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:114337177:T:C
                                Gene:
                                AKNA (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000015/4 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000009.12:g.114337178T>C, NC_000009.11:g.117099458T>C, XM_005252247.6:c.4196A>G, XM_005252247.5:c.4196A>G, XM_005252247.4:c.4196A>G, XM_005252247.3:c.4196A>G, XM_005252247.2:c.4196A>G, XM_005252247.1:c.4196A>G, NM_030767.5:c.4196A>G, NM_030767.4:c.4196A>G, XR_929844.4:n.4432A>G, XR_929844.3:n.4432A>G, XR_929844.2:n.4526A>G, XR_929844.1:n.4432A>G, XM_005252248.4:c.4100A>G, XM_005252248.3:c.4100A>G, XM_005252248.2:c.4100A>G, XM_005252248.1:c.4100A>G, XM_005252244.3:c.4196A>G, XM_005252244.2:c.4196A>G, XM_005252244.1:c.4196A>G, XM_011519063.3:c.3839A>G, XM_011519063.2:c.3839A>G, XM_011519063.1:c.3839A>G, XM_011519065.3:c.3839A>G, XM_011519065.2:c.3839A>G, XM_011519065.1:c.4073A>G, NM_001317950.2:c.4196A>G, NM_001317950.1:c.4196A>G, XM_005252245.2:c.4196A>G, XM_005252245.1:c.4196A>G, XM_006717294.2:c.4196A>G, XM_006717294.1:c.4196A>G, XM_047423922.1:c.4196A>G, XM_047423923.1:c.4043A>G, XM_047423925.1:c.3965A>G, XM_047423921.1:c.4196A>G, XM_047423924.1:c.3995A>G, NM_001317952.1:c.3839A>G, XP_005252304.1:p.Asn1399Ser, NP_110394.3:p.Asn1399Ser, XP_005252305.1:p.Asn1367Ser, XP_005252301.1:p.Asn1399Ser, XP_011517365.1:p.Asn1280Ser, XP_011517367.2:p.Asn1280Ser, NP_001304879.1:p.Asn1399Ser, XP_005252302.1:p.Asn1399Ser, XP_006717357.1:p.Asn1399Ser, XP_047279878.1:p.Asn1399Ser, XP_047279879.1:p.Asn1348Ser, XP_047279881.1:p.Asn1322Ser, XP_047279877.1:p.Asn1399Ser, XP_047279880.1:p.Asn1332Ser, NP_001304881.1:p.Asn1280Ser

                                16.

                                rs1482879598 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:114377525 (GRCh38)
                                  9:117139805 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:114377524:T:G
                                  Gene:
                                  AKNA (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.114377525T>G, NC_000009.11:g.117139805T>G, XM_005252247.6:c.282A>C, XM_005252247.5:c.282A>C, XM_005252247.4:c.282A>C, XM_005252247.3:c.282A>C, XM_005252247.2:c.282A>C, XM_005252247.1:c.282A>C, NM_030767.5:c.282A>C, NM_030767.4:c.282A>C, XR_929844.4:n.518A>C, XR_929844.3:n.518A>C, XR_929844.2:n.612A>C, XR_929844.1:n.518A>C, XM_005252248.4:c.282A>C, XM_005252248.3:c.282A>C, XM_005252248.2:c.282A>C, XM_005252248.1:c.282A>C, XM_011519066.4:c.282A>C, XM_011519066.3:c.282A>C, XM_011519066.2:c.282A>C, XM_011519066.1:c.282A>C, XM_005252244.3:c.282A>C, XM_005252244.2:c.282A>C, XM_005252244.1:c.282A>C, XM_011519063.3:c.-76A>C, XM_011519063.2:c.-76A>C, XM_011519063.1:c.-76A>C, XM_011519065.3:c.-76A>C, XM_011519065.2:c.-76A>C, XM_011519065.1:c.159A>C, XM_011519064.3:c.282A>C, XM_011519064.2:c.282A>C, XM_011519064.1:c.282A>C, NM_001317950.2:c.282A>C, NM_001317950.1:c.282A>C, XM_005252245.2:c.282A>C, XM_005252245.1:c.282A>C, XM_006717294.2:c.282A>C, XM_006717294.1:c.282A>C, XM_047423922.1:c.282A>C, XM_047423923.1:c.129A>C, XM_047423925.1:c.51A>C, XM_047423921.1:c.282A>C, XM_047423924.1:c.282A>C, NM_001317952.1:c.-76A>C, XM_047423926.1:c.282A>C, XP_005252304.1:p.Glu94Asp, NP_110394.3:p.Glu94Asp, XP_005252305.1:p.Glu94Asp, XP_011517368.1:p.Glu94Asp, XP_005252301.1:p.Glu94Asp, XP_011517366.1:p.Glu94Asp, NP_001304879.1:p.Glu94Asp, XP_005252302.1:p.Glu94Asp, XP_006717357.1:p.Glu94Asp, XP_047279878.1:p.Glu94Asp, XP_047279879.1:p.Glu43Asp, XP_047279881.1:p.Glu17Asp, XP_047279877.1:p.Glu94Asp, XP_047279880.1:p.Glu94Asp, XP_047279882.1:p.Glu94Asp

                                  17.

                                  rs1482740213 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:114346704 (GRCh38)
                                    9:117108984 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:114346703:G:A
                                    Gene:
                                    AKNA (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.114346704G>A, NC_000009.11:g.117108984G>A, XM_005252247.6:c.3479C>T, XM_005252247.5:c.3479C>T, XM_005252247.4:c.3479C>T, XM_005252247.3:c.3479C>T, XM_005252247.2:c.3479C>T, XM_005252247.1:c.3479C>T, NM_030767.5:c.3479C>T, NM_030767.4:c.3479C>T, XR_929844.4:n.3715C>T, XR_929844.3:n.3715C>T, XR_929844.2:n.3809C>T, XR_929844.1:n.3715C>T, XM_005252248.4:c.3479C>T, XM_005252248.3:c.3479C>T, XM_005252248.2:c.3479C>T, XM_005252248.1:c.3479C>T, XM_005252244.3:c.3479C>T, XM_005252244.2:c.3479C>T, XM_005252244.1:c.3479C>T, XM_011519063.3:c.3122C>T, XM_011519063.2:c.3122C>T, XM_011519063.1:c.3122C>T, XM_011519065.3:c.3122C>T, XM_011519065.2:c.3122C>T, XM_011519065.1:c.3356C>T, XM_011519064.3:c.3479C>T, XM_011519064.2:c.3479C>T, XM_011519064.1:c.3479C>T, NM_001317950.2:c.3479C>T, NM_001317950.1:c.3479C>T, XM_005252245.2:c.3479C>T, XM_005252245.1:c.3479C>T, XM_006717294.2:c.3479C>T, XM_006717294.1:c.3479C>T, XM_047423922.1:c.3479C>T, XM_047423923.1:c.3326C>T, XM_047423925.1:c.3248C>T, XM_047423921.1:c.3479C>T, XM_047423924.1:c.3278C>T, NM_001317952.1:c.3122C>T, XP_005252304.1:p.Ser1160Phe, NP_110394.3:p.Ser1160Phe, XP_005252305.1:p.Ser1160Phe, XP_005252301.1:p.Ser1160Phe, XP_011517365.1:p.Ser1041Phe, XP_011517367.2:p.Ser1041Phe, XP_011517366.1:p.Ser1160Phe, NP_001304879.1:p.Ser1160Phe, XP_005252302.1:p.Ser1160Phe, XP_006717357.1:p.Ser1160Phe, XP_047279878.1:p.Ser1160Phe, XP_047279879.1:p.Ser1109Phe, XP_047279881.1:p.Ser1083Phe, XP_047279877.1:p.Ser1160Phe, XP_047279880.1:p.Ser1093Phe, NP_001304881.1:p.Ser1041Phe

                                    18.

                                    rs1482607687 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      9:114377092 (GRCh38)
                                      9:117139372 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:114377091:G:T
                                      Gene:
                                      AKNA (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.114377092G>T, NC_000009.11:g.117139372G>T, XM_005252247.6:c.715C>A, XM_005252247.5:c.715C>A, XM_005252247.4:c.715C>A, XM_005252247.3:c.715C>A, XM_005252247.2:c.715C>A, XM_005252247.1:c.715C>A, NM_030767.5:c.715C>A, NM_030767.4:c.715C>A, XR_929844.4:n.951C>A, XR_929844.3:n.951C>A, XR_929844.2:n.1045C>A, XR_929844.1:n.951C>A, XM_005252248.4:c.715C>A, XM_005252248.3:c.715C>A, XM_005252248.2:c.715C>A, XM_005252248.1:c.715C>A, XM_011519066.4:c.715C>A, XM_011519066.3:c.715C>A, XM_011519066.2:c.715C>A, XM_011519066.1:c.715C>A, XM_005252244.3:c.715C>A, XM_005252244.2:c.715C>A, XM_005252244.1:c.715C>A, XM_011519063.3:c.358C>A, XM_011519063.2:c.358C>A, XM_011519063.1:c.358C>A, XM_011519065.3:c.358C>A, XM_011519065.2:c.358C>A, XM_011519065.1:c.592C>A, XM_011519064.3:c.715C>A, XM_011519064.2:c.715C>A, XM_011519064.1:c.715C>A, NM_001317950.2:c.715C>A, NM_001317950.1:c.715C>A, XM_005252245.2:c.715C>A, XM_005252245.1:c.715C>A, XM_006717294.2:c.715C>A, XM_006717294.1:c.715C>A, XM_047423922.1:c.715C>A, XM_047423923.1:c.562C>A, XM_047423925.1:c.484C>A, XM_047423921.1:c.715C>A, XM_047423924.1:c.715C>A, NM_001317952.1:c.358C>A, XM_047423926.1:c.715C>A, XP_005252304.1:p.Pro239Thr, NP_110394.3:p.Pro239Thr, XP_005252305.1:p.Pro239Thr, XP_011517368.1:p.Pro239Thr, XP_005252301.1:p.Pro239Thr, XP_011517365.1:p.Pro120Thr, XP_011517367.2:p.Pro120Thr, XP_011517366.1:p.Pro239Thr, NP_001304879.1:p.Pro239Thr, XP_005252302.1:p.Pro239Thr, XP_006717357.1:p.Pro239Thr, XP_047279878.1:p.Pro239Thr, XP_047279879.1:p.Pro188Thr, XP_047279881.1:p.Pro162Thr, XP_047279877.1:p.Pro239Thr, XP_047279880.1:p.Pro239Thr, NP_001304881.1:p.Pro120Thr, XP_047279882.1:p.Pro239Thr

                                      19.

                                      rs1481578917 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        9:114367559 (GRCh38)
                                        9:117129839 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:114367558:C:A
                                        Gene:
                                        AKNA (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 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.114367559C>A, NC_000009.11:g.117129839C>A, XM_005252247.6:c.1712G>T, XM_005252247.5:c.1712G>T, XM_005252247.4:c.1712G>T, XM_005252247.3:c.1712G>T, XM_005252247.2:c.1712G>T, XM_005252247.1:c.1712G>T, NM_030767.5:c.1712G>T, NM_030767.4:c.1712G>T, XR_929844.4:n.1948G>T, XR_929844.3:n.1948G>T, XR_929844.2:n.2042G>T, XR_929844.1:n.1948G>T, XM_005252248.4:c.1712G>T, XM_005252248.3:c.1712G>T, XM_005252248.2:c.1712G>T, XM_005252248.1:c.1712G>T, XM_011519066.4:c.1712G>T, XM_011519066.3:c.1712G>T, XM_011519066.2:c.1712G>T, XM_011519066.1:c.1712G>T, XM_005252244.3:c.1712G>T, XM_005252244.2:c.1712G>T, XM_005252244.1:c.1712G>T, XM_011519063.3:c.1355G>T, XM_011519063.2:c.1355G>T, XM_011519063.1:c.1355G>T, XM_011519065.3:c.1355G>T, XM_011519065.2:c.1355G>T, XM_011519065.1:c.1589G>T, XM_011519064.3:c.1712G>T, XM_011519064.2:c.1712G>T, XM_011519064.1:c.1712G>T, NM_001317950.2:c.1712G>T, NM_001317950.1:c.1712G>T, XM_005252245.2:c.1712G>T, XM_005252245.1:c.1712G>T, XM_006717294.2:c.1712G>T, XM_006717294.1:c.1712G>T, XM_047423922.1:c.1712G>T, XM_047423923.1:c.1559G>T, XM_047423925.1:c.1481G>T, XM_047423921.1:c.1712G>T, XM_047423924.1:c.1712G>T, NM_001317952.1:c.1355G>T, XM_047423926.1:c.1712G>T, XP_005252304.1:p.Ser571Ile, NP_110394.3:p.Ser571Ile, XP_005252305.1:p.Ser571Ile, XP_011517368.1:p.Ser571Ile, XP_005252301.1:p.Ser571Ile, XP_011517365.1:p.Ser452Ile, XP_011517367.2:p.Ser452Ile, XP_011517366.1:p.Ser571Ile, NP_001304879.1:p.Ser571Ile, XP_005252302.1:p.Ser571Ile, XP_006717357.1:p.Ser571Ile, XP_047279878.1:p.Ser571Ile, XP_047279879.1:p.Ser520Ile, XP_047279881.1:p.Ser494Ile, XP_047279877.1:p.Ser571Ile, XP_047279880.1:p.Ser571Ile, NP_001304881.1:p.Ser452Ile, XP_047279882.1:p.Ser571Ile

                                        20.

                                        rs1479293333 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:114359634 (GRCh38)
                                          9:117121914 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:114359633:A:G
                                          Gene:
                                          AKNA (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.114359634A>G, NC_000009.11:g.117121914A>G, XM_005252247.6:c.2452T>C, XM_005252247.5:c.2452T>C, XM_005252247.4:c.2452T>C, XM_005252247.3:c.2452T>C, XM_005252247.2:c.2452T>C, XM_005252247.1:c.2452T>C, NM_030767.5:c.2452T>C, NM_030767.4:c.2452T>C, XR_929844.4:n.2688T>C, XR_929844.3:n.2688T>C, XR_929844.2:n.2782T>C, XR_929844.1:n.2688T>C, XM_005252248.4:c.2452T>C, XM_005252248.3:c.2452T>C, XM_005252248.2:c.2452T>C, XM_005252248.1:c.2452T>C, XM_011519066.4:c.2452T>C, XM_011519066.3:c.2452T>C, XM_011519066.2:c.2452T>C, XM_011519066.1:c.2452T>C, XM_005252244.3:c.2452T>C, XM_005252244.2:c.2452T>C, XM_005252244.1:c.2452T>C, XM_011519063.3:c.2095T>C, XM_011519063.2:c.2095T>C, XM_011519063.1:c.2095T>C, XM_011519065.3:c.2095T>C, XM_011519065.2:c.2095T>C, XM_011519065.1:c.2329T>C, XM_011519064.3:c.2452T>C, XM_011519064.2:c.2452T>C, XM_011519064.1:c.2452T>C, NM_001317950.2:c.2452T>C, NM_001317950.1:c.2452T>C, XM_005252245.2:c.2452T>C, XM_005252245.1:c.2452T>C, XM_006717294.2:c.2452T>C, XM_006717294.1:c.2452T>C, XM_047423922.1:c.2452T>C, XM_047423923.1:c.2299T>C, XM_047423925.1:c.2221T>C, XM_047423921.1:c.2452T>C, NM_001317952.1:c.2095T>C, XM_047423926.1:c.2452T>C, XP_005252304.1:p.Cys818Arg, NP_110394.3:p.Cys818Arg, XP_005252305.1:p.Cys818Arg, XP_011517368.1:p.Cys818Arg, XP_005252301.1:p.Cys818Arg, XP_011517365.1:p.Cys699Arg, XP_011517367.2:p.Cys699Arg, XP_011517366.1:p.Cys818Arg, NP_001304879.1:p.Cys818Arg, XP_005252302.1:p.Cys818Arg, XP_006717357.1:p.Cys818Arg, XP_047279878.1:p.Cys818Arg, XP_047279879.1:p.Cys767Arg, XP_047279881.1:p.Cys741Arg, XP_047279877.1:p.Cys818Arg, NP_001304881.1:p.Cys699Arg, XP_047279882.1:p.Cys818Arg

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