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Items: 1 to 20 of 3353

1.

rs1490883142 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    16:89279700 (GRCh38)
    16:89346108 (GRCh37)
    Canonical SPDI:
    NC_000016.10:89279699:T:C,NC_000016.10:89279699:T:G
    Gene:
    ANKRD11 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.89279700T>C, NC_000016.10:g.89279700T>G, NC_000016.9:g.89346108T>C, NC_000016.9:g.89346108T>G, NG_032003.2:g.215862A>G, NG_032003.2:g.215862A>C, NM_013275.6:c.6842A>G, NM_013275.6:c.6842A>C, NM_013275.5:c.6842A>G, NM_013275.5:c.6842A>C, NM_001256182.2:c.6842A>G, NM_001256182.2:c.6842A>C, NM_001256182.1:c.6842A>G, NM_001256182.1:c.6842A>C, NM_001256183.2:c.6842A>G, NM_001256183.2:c.6842A>C, NM_001256183.1:c.6842A>G, NM_001256183.1:c.6842A>C, XM_011523057.3:c.6842A>G, XM_011523057.3:c.6842A>C, XM_011523057.2:c.6842A>G, XM_011523057.2:c.6842A>C, XM_011523057.1:c.6842A>G, XM_011523057.1:c.6842A>C, XM_011523053.3:c.6842A>G, XM_011523053.3:c.6842A>C, XM_011523053.2:c.6842A>G, XM_011523053.2:c.6842A>C, XM_011523053.1:c.6842A>G, XM_011523053.1:c.6842A>C, XM_017023184.2:c.6842A>G, XM_017023184.2:c.6842A>C, XM_017023184.1:c.6842A>G, XM_017023184.1:c.6842A>C, XM_017023187.2:c.6842A>G, XM_017023187.2:c.6842A>C, XM_017023187.1:c.6842A>G, XM_017023187.1:c.6842A>C, XM_047434020.1:c.6842A>G, XM_047434020.1:c.6842A>C, XM_047434019.1:c.6842A>G, XM_047434019.1:c.6842A>C, XM_047434018.1:c.6842A>G, XM_047434018.1:c.6842A>C, XM_047434026.1:c.6842A>G, XM_047434026.1:c.6842A>C, XM_047434021.1:c.6842A>G, XM_047434021.1:c.6842A>C, XM_047434022.1:c.6842A>G, XM_047434022.1:c.6842A>C, XM_047434028.1:c.6842A>G, XM_047434028.1:c.6842A>C, XM_047434024.1:c.6842A>G, XM_047434024.1:c.6842A>C, XM_047434015.1:c.6842A>G, XM_047434015.1:c.6842A>C, XM_047434027.1:c.6842A>G, XM_047434027.1:c.6842A>C, XM_047434012.1:c.6842A>G, XM_047434012.1:c.6842A>C, XM_047434014.1:c.6842A>G, XM_047434014.1:c.6842A>C, XM_047434023.1:c.6842A>G, XM_047434023.1:c.6842A>C, XM_047434025.1:c.6842A>G, XM_047434025.1:c.6842A>C, XM_047434010.1:c.6842A>G, XM_047434010.1:c.6842A>C, XM_047434030.1:c.6740A>G, XM_047434030.1:c.6740A>C, XM_047434016.1:c.6842A>G, XM_047434016.1:c.6842A>C, XM_047434017.1:c.6842A>G, XM_047434017.1:c.6842A>C, XM_047434032.1:c.6713A>G, XM_047434032.1:c.6713A>C, XM_047434029.1:c.6740A>G, XM_047434029.1:c.6740A>C, XM_047434011.1:c.6842A>G, XM_047434011.1:c.6842A>C, XM_047434031.1:c.6740A>G, XM_047434031.1:c.6740A>C, NP_037407.4:p.Gln2281Arg, NP_037407.4:p.Gln2281Pro, NP_001243111.1:p.Gln2281Arg, NP_001243111.1:p.Gln2281Pro, NP_001243112.1:p.Gln2281Arg, NP_001243112.1:p.Gln2281Pro, XP_011521359.1:p.Gln2281Arg, XP_011521359.1:p.Gln2281Pro, XP_011521355.1:p.Gln2281Arg, XP_011521355.1:p.Gln2281Pro, XP_016878673.1:p.Gln2281Arg, XP_016878673.1:p.Gln2281Pro, XP_016878676.1:p.Gln2281Arg, XP_016878676.1:p.Gln2281Pro, XP_047289976.1:p.Gln2281Arg, XP_047289976.1:p.Gln2281Pro, XP_047289975.1:p.Gln2281Arg, XP_047289975.1:p.Gln2281Pro, XP_047289974.1:p.Gln2281Arg, XP_047289974.1:p.Gln2281Pro, XP_047289982.1:p.Gln2281Arg, XP_047289982.1:p.Gln2281Pro, XP_047289977.1:p.Gln2281Arg, XP_047289977.1:p.Gln2281Pro, XP_047289978.1:p.Gln2281Arg, XP_047289978.1:p.Gln2281Pro, XP_047289984.1:p.Gln2281Arg, XP_047289984.1:p.Gln2281Pro, XP_047289980.1:p.Gln2281Arg, XP_047289980.1:p.Gln2281Pro, XP_047289971.1:p.Gln2281Arg, XP_047289971.1:p.Gln2281Pro, XP_047289983.1:p.Gln2281Arg, XP_047289983.1:p.Gln2281Pro, XP_047289968.1:p.Gln2281Arg, XP_047289968.1:p.Gln2281Pro, XP_047289970.1:p.Gln2281Arg, XP_047289970.1:p.Gln2281Pro, XP_047289979.1:p.Gln2281Arg, XP_047289979.1:p.Gln2281Pro, XP_047289981.1:p.Gln2281Arg, XP_047289981.1:p.Gln2281Pro, XP_047289966.1:p.Gln2281Arg, XP_047289966.1:p.Gln2281Pro, XP_047289986.1:p.Gln2247Arg, XP_047289986.1:p.Gln2247Pro, XP_047289972.1:p.Gln2281Arg, XP_047289972.1:p.Gln2281Pro, XP_047289973.1:p.Gln2281Arg, XP_047289973.1:p.Gln2281Pro, XP_047289988.1:p.Gln2238Arg, XP_047289988.1:p.Gln2238Pro, XP_047289985.1:p.Gln2247Arg, XP_047289985.1:p.Gln2247Pro, XP_047289967.1:p.Gln2281Arg, XP_047289967.1:p.Gln2281Pro, XP_047289987.1:p.Gln2247Arg, XP_047289987.1:p.Gln2247Pro

    2.

    rs1490852338 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      16:89279121 (GRCh38)
      16:89345529 (GRCh37)
      Canonical SPDI:
      NC_000016.10:89279120:C:G
      Gene:
      ANKRD11 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.89279121C>G, NC_000016.9:g.89345529C>G, NG_032003.2:g.216441G>C, NM_013275.6:c.7421G>C, NM_013275.5:c.7421G>C, NM_001256182.2:c.7421G>C, NM_001256182.1:c.7421G>C, NM_001256183.2:c.7421G>C, NM_001256183.1:c.7421G>C, XM_011523057.3:c.7421G>C, XM_011523057.2:c.7421G>C, XM_011523057.1:c.7421G>C, XM_011523053.3:c.7421G>C, XM_011523053.2:c.7421G>C, XM_011523053.1:c.7421G>C, XM_017023184.2:c.7421G>C, XM_017023184.1:c.7421G>C, XM_017023187.2:c.7421G>C, XM_017023187.1:c.7421G>C, XM_047434020.1:c.7421G>C, XM_047434019.1:c.7421G>C, XM_047434018.1:c.7421G>C, XM_047434026.1:c.7421G>C, XM_047434021.1:c.7421G>C, XM_047434022.1:c.7421G>C, XM_047434028.1:c.7421G>C, XM_047434024.1:c.7421G>C, XM_047434015.1:c.7421G>C, XM_047434027.1:c.7421G>C, XM_047434012.1:c.7421G>C, XM_047434014.1:c.7421G>C, XM_047434023.1:c.7421G>C, XM_047434025.1:c.7421G>C, XM_047434010.1:c.7421G>C, XM_047434030.1:c.7319G>C, XM_047434016.1:c.7421G>C, XM_047434017.1:c.7421G>C, XM_047434032.1:c.7292G>C, XM_047434029.1:c.7319G>C, XM_047434011.1:c.7421G>C, XM_047434031.1:c.7319G>C, NP_037407.4:p.Gly2474Ala, NP_001243111.1:p.Gly2474Ala, NP_001243112.1:p.Gly2474Ala, XP_011521359.1:p.Gly2474Ala, XP_011521355.1:p.Gly2474Ala, XP_016878673.1:p.Gly2474Ala, XP_016878676.1:p.Gly2474Ala, XP_047289976.1:p.Gly2474Ala, XP_047289975.1:p.Gly2474Ala, XP_047289974.1:p.Gly2474Ala, XP_047289982.1:p.Gly2474Ala, XP_047289977.1:p.Gly2474Ala, XP_047289978.1:p.Gly2474Ala, XP_047289984.1:p.Gly2474Ala, XP_047289980.1:p.Gly2474Ala, XP_047289971.1:p.Gly2474Ala, XP_047289983.1:p.Gly2474Ala, XP_047289968.1:p.Gly2474Ala, XP_047289970.1:p.Gly2474Ala, XP_047289979.1:p.Gly2474Ala, XP_047289981.1:p.Gly2474Ala, XP_047289966.1:p.Gly2474Ala, XP_047289986.1:p.Gly2440Ala, XP_047289972.1:p.Gly2474Ala, XP_047289973.1:p.Gly2474Ala, XP_047289988.1:p.Gly2431Ala, XP_047289985.1:p.Gly2440Ala, XP_047289967.1:p.Gly2474Ala, XP_047289987.1:p.Gly2440Ala

      3.

      rs1490360414 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        16:89281376 (GRCh38)
        16:89347784 (GRCh37)
        Canonical SPDI:
        NC_000016.10:89281375:G:A,NC_000016.10:89281375:G:C
        Gene:
        ANKRD11 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        NC_000016.10:g.89281376G>A, NC_000016.10:g.89281376G>C, NC_000016.9:g.89347784G>A, NC_000016.9:g.89347784G>C, NG_032003.2:g.214186C>T, NG_032003.2:g.214186C>G, NM_013275.6:c.5166C>T, NM_013275.6:c.5166C>G, NM_013275.5:c.5166C>T, NM_013275.5:c.5166C>G, NM_001256182.2:c.5166C>T, NM_001256182.2:c.5166C>G, NM_001256182.1:c.5166C>T, NM_001256182.1:c.5166C>G, NM_001256183.2:c.5166C>T, NM_001256183.2:c.5166C>G, NM_001256183.1:c.5166C>T, NM_001256183.1:c.5166C>G, XM_011523057.3:c.5166C>T, XM_011523057.3:c.5166C>G, XM_011523057.2:c.5166C>T, XM_011523057.2:c.5166C>G, XM_011523057.1:c.5166C>T, XM_011523057.1:c.5166C>G, XM_011523053.3:c.5166C>T, XM_011523053.3:c.5166C>G, XM_011523053.2:c.5166C>T, XM_011523053.2:c.5166C>G, XM_011523053.1:c.5166C>T, XM_011523053.1:c.5166C>G, XM_017023184.2:c.5166C>T, XM_017023184.2:c.5166C>G, XM_017023184.1:c.5166C>T, XM_017023184.1:c.5166C>G, XM_017023187.2:c.5166C>T, XM_017023187.2:c.5166C>G, XM_017023187.1:c.5166C>T, XM_017023187.1:c.5166C>G, XM_047434020.1:c.5166C>T, XM_047434020.1:c.5166C>G, XM_047434019.1:c.5166C>T, XM_047434019.1:c.5166C>G, XM_047434018.1:c.5166C>T, XM_047434018.1:c.5166C>G, XM_047434026.1:c.5166C>T, XM_047434026.1:c.5166C>G, XM_047434021.1:c.5166C>T, XM_047434021.1:c.5166C>G, XM_047434022.1:c.5166C>T, XM_047434022.1:c.5166C>G, XM_047434028.1:c.5166C>T, XM_047434028.1:c.5166C>G, XM_047434024.1:c.5166C>T, XM_047434024.1:c.5166C>G, XM_047434015.1:c.5166C>T, XM_047434015.1:c.5166C>G, XM_047434027.1:c.5166C>T, XM_047434027.1:c.5166C>G, XM_047434012.1:c.5166C>T, XM_047434012.1:c.5166C>G, XM_047434014.1:c.5166C>T, XM_047434014.1:c.5166C>G, XM_047434023.1:c.5166C>T, XM_047434023.1:c.5166C>G, XM_047434025.1:c.5166C>T, XM_047434025.1:c.5166C>G, XM_047434010.1:c.5166C>T, XM_047434010.1:c.5166C>G, XM_047434030.1:c.5064C>T, XM_047434030.1:c.5064C>G, XM_047434016.1:c.5166C>T, XM_047434016.1:c.5166C>G, XM_047434017.1:c.5166C>T, XM_047434017.1:c.5166C>G, XM_047434032.1:c.5037C>T, XM_047434032.1:c.5037C>G, XM_047434029.1:c.5064C>T, XM_047434029.1:c.5064C>G, XM_047434011.1:c.5166C>T, XM_047434011.1:c.5166C>G, XM_047434031.1:c.5064C>T, XM_047434031.1:c.5064C>G

        4.

        rs1490112689 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:89283648 (GRCh38)
          16:89350056 (GRCh37)
          Canonical SPDI:
          NC_000016.10:89283647:C:T
          Gene:
          ANKRD11 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000016.10:g.89283648C>T, NC_000016.9:g.89350056C>T, NG_032003.2:g.211914G>A, NM_013275.6:c.2894G>A, NM_013275.5:c.2894G>A, NM_001256182.2:c.2894G>A, NM_001256182.1:c.2894G>A, NM_001256183.2:c.2894G>A, NM_001256183.1:c.2894G>A, XM_011523057.3:c.2894G>A, XM_011523057.2:c.2894G>A, XM_011523057.1:c.2894G>A, XM_011523053.3:c.2894G>A, XM_011523053.2:c.2894G>A, XM_011523053.1:c.2894G>A, XM_017023184.2:c.2894G>A, XM_017023184.1:c.2894G>A, XM_017023187.2:c.2894G>A, XM_017023187.1:c.2894G>A, XM_047434020.1:c.2894G>A, XM_047434019.1:c.2894G>A, XM_047434018.1:c.2894G>A, XM_047434026.1:c.2894G>A, XM_047434021.1:c.2894G>A, XM_047434022.1:c.2894G>A, XM_047434028.1:c.2894G>A, XM_047434024.1:c.2894G>A, XM_047434015.1:c.2894G>A, XM_047434027.1:c.2894G>A, XM_047434012.1:c.2894G>A, XM_047434014.1:c.2894G>A, XM_047434023.1:c.2894G>A, XM_047434025.1:c.2894G>A, XM_047434010.1:c.2894G>A, XM_047434030.1:c.2792G>A, XM_047434016.1:c.2894G>A, XM_047434017.1:c.2894G>A, XM_047434032.1:c.2765G>A, XM_047434029.1:c.2792G>A, XM_047434011.1:c.2894G>A, XM_047434031.1:c.2792G>A, NP_037407.4:p.Arg965Lys, NP_001243111.1:p.Arg965Lys, NP_001243112.1:p.Arg965Lys, XP_011521359.1:p.Arg965Lys, XP_011521355.1:p.Arg965Lys, XP_016878673.1:p.Arg965Lys, XP_016878676.1:p.Arg965Lys, XP_047289976.1:p.Arg965Lys, XP_047289975.1:p.Arg965Lys, XP_047289974.1:p.Arg965Lys, XP_047289982.1:p.Arg965Lys, XP_047289977.1:p.Arg965Lys, XP_047289978.1:p.Arg965Lys, XP_047289984.1:p.Arg965Lys, XP_047289980.1:p.Arg965Lys, XP_047289971.1:p.Arg965Lys, XP_047289983.1:p.Arg965Lys, XP_047289968.1:p.Arg965Lys, XP_047289970.1:p.Arg965Lys, XP_047289979.1:p.Arg965Lys, XP_047289981.1:p.Arg965Lys, XP_047289966.1:p.Arg965Lys, XP_047289986.1:p.Arg931Lys, XP_047289972.1:p.Arg965Lys, XP_047289973.1:p.Arg965Lys, XP_047289988.1:p.Arg922Lys, XP_047289985.1:p.Arg931Lys, XP_047289967.1:p.Arg965Lys, XP_047289987.1:p.Arg931Lys

          5.

          rs1490081896 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:89279857 (GRCh38)
            16:89346265 (GRCh37)
            Canonical SPDI:
            NC_000016.10:89279856:C:T
            Gene:
            ANKRD11 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            HGVS:
            NC_000016.10:g.89279857C>T, NC_000016.9:g.89346265C>T, NG_032003.2:g.215705G>A, NM_013275.6:c.6685G>A, NM_013275.5:c.6685G>A, NM_001256182.2:c.6685G>A, NM_001256182.1:c.6685G>A, NM_001256183.2:c.6685G>A, NM_001256183.1:c.6685G>A, XM_011523057.3:c.6685G>A, XM_011523057.2:c.6685G>A, XM_011523057.1:c.6685G>A, XM_011523053.3:c.6685G>A, XM_011523053.2:c.6685G>A, XM_011523053.1:c.6685G>A, XM_017023184.2:c.6685G>A, XM_017023184.1:c.6685G>A, XM_017023187.2:c.6685G>A, XM_017023187.1:c.6685G>A, XM_047434020.1:c.6685G>A, XM_047434019.1:c.6685G>A, XM_047434018.1:c.6685G>A, XM_047434026.1:c.6685G>A, XM_047434021.1:c.6685G>A, XM_047434022.1:c.6685G>A, XM_047434028.1:c.6685G>A, XM_047434024.1:c.6685G>A, XM_047434015.1:c.6685G>A, XM_047434027.1:c.6685G>A, XM_047434012.1:c.6685G>A, XM_047434014.1:c.6685G>A, XM_047434023.1:c.6685G>A, XM_047434025.1:c.6685G>A, XM_047434010.1:c.6685G>A, XM_047434030.1:c.6583G>A, XM_047434016.1:c.6685G>A, XM_047434017.1:c.6685G>A, XM_047434032.1:c.6556G>A, XM_047434029.1:c.6583G>A, XM_047434011.1:c.6685G>A, XM_047434031.1:c.6583G>A, NP_037407.4:p.Glu2229Lys, NP_001243111.1:p.Glu2229Lys, NP_001243112.1:p.Glu2229Lys, XP_011521359.1:p.Glu2229Lys, XP_011521355.1:p.Glu2229Lys, XP_016878673.1:p.Glu2229Lys, XP_016878676.1:p.Glu2229Lys, XP_047289976.1:p.Glu2229Lys, XP_047289975.1:p.Glu2229Lys, XP_047289974.1:p.Glu2229Lys, XP_047289982.1:p.Glu2229Lys, XP_047289977.1:p.Glu2229Lys, XP_047289978.1:p.Glu2229Lys, XP_047289984.1:p.Glu2229Lys, XP_047289980.1:p.Glu2229Lys, XP_047289971.1:p.Glu2229Lys, XP_047289983.1:p.Glu2229Lys, XP_047289968.1:p.Glu2229Lys, XP_047289970.1:p.Glu2229Lys, XP_047289979.1:p.Glu2229Lys, XP_047289981.1:p.Glu2229Lys, XP_047289966.1:p.Glu2229Lys, XP_047289986.1:p.Glu2195Lys, XP_047289972.1:p.Glu2229Lys, XP_047289973.1:p.Glu2229Lys, XP_047289988.1:p.Glu2186Lys, XP_047289985.1:p.Glu2195Lys, XP_047289967.1:p.Glu2229Lys, XP_047289987.1:p.Glu2195Lys

            6.

            rs1489922185 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:89282384 (GRCh38)
              16:89348792 (GRCh37)
              Canonical SPDI:
              NC_000016.10:89282383:C:T
              Gene:
              ANKRD11 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000016.10:g.89282384C>T, NC_000016.9:g.89348792C>T, NG_032003.2:g.213178G>A, NM_013275.6:c.4158G>A, NM_013275.5:c.4158G>A, NM_001256182.2:c.4158G>A, NM_001256182.1:c.4158G>A, NM_001256183.2:c.4158G>A, NM_001256183.1:c.4158G>A, XM_011523057.3:c.4158G>A, XM_011523057.2:c.4158G>A, XM_011523057.1:c.4158G>A, XM_011523053.3:c.4158G>A, XM_011523053.2:c.4158G>A, XM_011523053.1:c.4158G>A, XM_017023184.2:c.4158G>A, XM_017023184.1:c.4158G>A, XM_017023187.2:c.4158G>A, XM_017023187.1:c.4158G>A, XM_047434020.1:c.4158G>A, XM_047434019.1:c.4158G>A, XM_047434018.1:c.4158G>A, XM_047434026.1:c.4158G>A, XM_047434021.1:c.4158G>A, XM_047434022.1:c.4158G>A, XM_047434028.1:c.4158G>A, XM_047434024.1:c.4158G>A, XM_047434015.1:c.4158G>A, XM_047434027.1:c.4158G>A, XM_047434012.1:c.4158G>A, XM_047434014.1:c.4158G>A, XM_047434023.1:c.4158G>A, XM_047434025.1:c.4158G>A, XM_047434010.1:c.4158G>A, XM_047434030.1:c.4056G>A, XM_047434016.1:c.4158G>A, XM_047434017.1:c.4158G>A, XM_047434032.1:c.4029G>A, XM_047434029.1:c.4056G>A, XM_047434011.1:c.4158G>A, XM_047434031.1:c.4056G>A

              7.

              rs1489493167 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:89291148 (GRCh38)
                16:89357556 (GRCh37)
                Canonical SPDI:
                NC_000016.10:89291147:C:T
                Gene:
                ANKRD11 (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 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.89291148C>T, NC_000016.9:g.89357556C>T, NG_032003.2:g.204414G>A, NM_013275.6:c.262G>A, NM_013275.5:c.262G>A, NM_001256182.2:c.262G>A, NM_001256182.1:c.262G>A, NM_001256183.2:c.262G>A, NM_001256183.1:c.262G>A, NR_045839.2:n.1093G>A, NR_045839.1:n.1093G>A, XM_011523057.3:c.262G>A, XM_011523057.2:c.262G>A, XM_011523057.1:c.262G>A, XM_011523053.3:c.262G>A, XM_011523053.2:c.262G>A, XM_011523053.1:c.262G>A, XM_017023184.2:c.262G>A, XM_017023184.1:c.262G>A, XM_017023187.2:c.262G>A, XM_017023187.1:c.262G>A, XM_047434020.1:c.262G>A, XM_047434019.1:c.262G>A, XM_047434018.1:c.262G>A, XM_047434026.1:c.262G>A, XM_047434021.1:c.262G>A, XM_047434022.1:c.262G>A, XM_047434028.1:c.262G>A, XM_047434024.1:c.262G>A, XM_047434015.1:c.262G>A, XM_047434027.1:c.262G>A, XM_047434012.1:c.262G>A, XM_047434014.1:c.262G>A, XM_047434023.1:c.262G>A, XM_047434025.1:c.262G>A, XM_047434010.1:c.262G>A, XM_047434030.1:c.160G>A, XM_047434016.1:c.262G>A, XM_047434017.1:c.262G>A, XM_047434032.1:c.133G>A, XM_047434029.1:c.160G>A, XM_047434011.1:c.262G>A, XM_047434031.1:c.160G>A, NP_037407.4:p.Glu88Lys, NP_001243111.1:p.Glu88Lys, NP_001243112.1:p.Glu88Lys, XP_011521359.1:p.Glu88Lys, XP_011521355.1:p.Glu88Lys, XP_016878673.1:p.Glu88Lys, XP_016878676.1:p.Glu88Lys, XP_047289976.1:p.Glu88Lys, XP_047289975.1:p.Glu88Lys, XP_047289974.1:p.Glu88Lys, XP_047289982.1:p.Glu88Lys, XP_047289977.1:p.Glu88Lys, XP_047289978.1:p.Glu88Lys, XP_047289984.1:p.Glu88Lys, XP_047289980.1:p.Glu88Lys, XP_047289971.1:p.Glu88Lys, XP_047289983.1:p.Glu88Lys, XP_047289968.1:p.Glu88Lys, XP_047289970.1:p.Glu88Lys, XP_047289979.1:p.Glu88Lys, XP_047289981.1:p.Glu88Lys, XP_047289966.1:p.Glu88Lys, XP_047289986.1:p.Glu54Lys, XP_047289972.1:p.Glu88Lys, XP_047289973.1:p.Glu88Lys, XP_047289988.1:p.Glu45Lys, XP_047289985.1:p.Glu54Lys, XP_047289967.1:p.Glu88Lys, XP_047289987.1:p.Glu54Lys

                8.

                rs1489486003 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:89282085 (GRCh38)
                  16:89348493 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:89282084:C:T
                  Gene:
                  ANKRD11 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.89282085C>T, NC_000016.9:g.89348493C>T, NG_032003.2:g.213477G>A, NM_013275.6:c.4457G>A, NM_013275.5:c.4457G>A, NM_001256182.2:c.4457G>A, NM_001256182.1:c.4457G>A, NM_001256183.2:c.4457G>A, NM_001256183.1:c.4457G>A, XM_011523057.3:c.4457G>A, XM_011523057.2:c.4457G>A, XM_011523057.1:c.4457G>A, XM_011523053.3:c.4457G>A, XM_011523053.2:c.4457G>A, XM_011523053.1:c.4457G>A, XM_017023184.2:c.4457G>A, XM_017023184.1:c.4457G>A, XM_017023187.2:c.4457G>A, XM_017023187.1:c.4457G>A, XM_047434020.1:c.4457G>A, XM_047434019.1:c.4457G>A, XM_047434018.1:c.4457G>A, XM_047434026.1:c.4457G>A, XM_047434021.1:c.4457G>A, XM_047434022.1:c.4457G>A, XM_047434028.1:c.4457G>A, XM_047434024.1:c.4457G>A, XM_047434015.1:c.4457G>A, XM_047434027.1:c.4457G>A, XM_047434012.1:c.4457G>A, XM_047434014.1:c.4457G>A, XM_047434023.1:c.4457G>A, XM_047434025.1:c.4457G>A, XM_047434010.1:c.4457G>A, XM_047434030.1:c.4355G>A, XM_047434016.1:c.4457G>A, XM_047434017.1:c.4457G>A, XM_047434032.1:c.4328G>A, XM_047434029.1:c.4355G>A, XM_047434011.1:c.4457G>A, XM_047434031.1:c.4355G>A, NP_037407.4:p.Arg1486Gln, NP_001243111.1:p.Arg1486Gln, NP_001243112.1:p.Arg1486Gln, XP_011521359.1:p.Arg1486Gln, XP_011521355.1:p.Arg1486Gln, XP_016878673.1:p.Arg1486Gln, XP_016878676.1:p.Arg1486Gln, XP_047289976.1:p.Arg1486Gln, XP_047289975.1:p.Arg1486Gln, XP_047289974.1:p.Arg1486Gln, XP_047289982.1:p.Arg1486Gln, XP_047289977.1:p.Arg1486Gln, XP_047289978.1:p.Arg1486Gln, XP_047289984.1:p.Arg1486Gln, XP_047289980.1:p.Arg1486Gln, XP_047289971.1:p.Arg1486Gln, XP_047289983.1:p.Arg1486Gln, XP_047289968.1:p.Arg1486Gln, XP_047289970.1:p.Arg1486Gln, XP_047289979.1:p.Arg1486Gln, XP_047289981.1:p.Arg1486Gln, XP_047289966.1:p.Arg1486Gln, XP_047289986.1:p.Arg1452Gln, XP_047289972.1:p.Arg1486Gln, XP_047289973.1:p.Arg1486Gln, XP_047289988.1:p.Arg1443Gln, XP_047289985.1:p.Arg1452Gln, XP_047289967.1:p.Arg1486Gln, XP_047289987.1:p.Arg1452Gln

                  9.

                  rs1489439356 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:89284088 (GRCh38)
                    16:89350496 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:89284087:A:G
                    Gene:
                    ANKRD11 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.89284088A>G, NC_000016.9:g.89350496A>G, NG_032003.2:g.211474T>C, NM_013275.6:c.2454T>C, NM_013275.5:c.2454T>C, NM_001256182.2:c.2454T>C, NM_001256182.1:c.2454T>C, NM_001256183.2:c.2454T>C, NM_001256183.1:c.2454T>C, XM_011523057.3:c.2454T>C, XM_011523057.2:c.2454T>C, XM_011523057.1:c.2454T>C, XM_011523053.3:c.2454T>C, XM_011523053.2:c.2454T>C, XM_011523053.1:c.2454T>C, XM_017023184.2:c.2454T>C, XM_017023184.1:c.2454T>C, XM_017023187.2:c.2454T>C, XM_017023187.1:c.2454T>C, XM_047434020.1:c.2454T>C, XM_047434019.1:c.2454T>C, XM_047434018.1:c.2454T>C, XM_047434026.1:c.2454T>C, XM_047434021.1:c.2454T>C, XM_047434022.1:c.2454T>C, XM_047434028.1:c.2454T>C, XM_047434024.1:c.2454T>C, XM_047434015.1:c.2454T>C, XM_047434027.1:c.2454T>C, XM_047434012.1:c.2454T>C, XM_047434014.1:c.2454T>C, XM_047434023.1:c.2454T>C, XM_047434025.1:c.2454T>C, XM_047434010.1:c.2454T>C, XM_047434030.1:c.2352T>C, XM_047434016.1:c.2454T>C, XM_047434017.1:c.2454T>C, XM_047434032.1:c.2325T>C, XM_047434029.1:c.2352T>C, XM_047434011.1:c.2454T>C, XM_047434031.1:c.2352T>C

                    10.

                    rs1489424931 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:89281513 (GRCh38)
                      16:89347921 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:89281512:T:C
                      Gene:
                      ANKRD11 (Varview)
                      Functional Consequence:
                      coding_sequence_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=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000016.10:g.89281513T>C, NC_000016.9:g.89347921T>C, NG_032003.2:g.214049A>G, NM_013275.6:c.5029A>G, NM_013275.5:c.5029A>G, NM_001256182.2:c.5029A>G, NM_001256182.1:c.5029A>G, NM_001256183.2:c.5029A>G, NM_001256183.1:c.5029A>G, XM_011523057.3:c.5029A>G, XM_011523057.2:c.5029A>G, XM_011523057.1:c.5029A>G, XM_011523053.3:c.5029A>G, XM_011523053.2:c.5029A>G, XM_011523053.1:c.5029A>G, XM_017023184.2:c.5029A>G, XM_017023184.1:c.5029A>G, XM_017023187.2:c.5029A>G, XM_017023187.1:c.5029A>G, XM_047434020.1:c.5029A>G, XM_047434019.1:c.5029A>G, XM_047434018.1:c.5029A>G, XM_047434026.1:c.5029A>G, XM_047434021.1:c.5029A>G, XM_047434022.1:c.5029A>G, XM_047434028.1:c.5029A>G, XM_047434024.1:c.5029A>G, XM_047434015.1:c.5029A>G, XM_047434027.1:c.5029A>G, XM_047434012.1:c.5029A>G, XM_047434014.1:c.5029A>G, XM_047434023.1:c.5029A>G, XM_047434025.1:c.5029A>G, XM_047434010.1:c.5029A>G, XM_047434030.1:c.4927A>G, XM_047434016.1:c.5029A>G, XM_047434017.1:c.5029A>G, XM_047434032.1:c.4900A>G, XM_047434029.1:c.4927A>G, XM_047434011.1:c.5029A>G, XM_047434031.1:c.4927A>G, NP_037407.4:p.Lys1677Glu, NP_001243111.1:p.Lys1677Glu, NP_001243112.1:p.Lys1677Glu, XP_011521359.1:p.Lys1677Glu, XP_011521355.1:p.Lys1677Glu, XP_016878673.1:p.Lys1677Glu, XP_016878676.1:p.Lys1677Glu, XP_047289976.1:p.Lys1677Glu, XP_047289975.1:p.Lys1677Glu, XP_047289974.1:p.Lys1677Glu, XP_047289982.1:p.Lys1677Glu, XP_047289977.1:p.Lys1677Glu, XP_047289978.1:p.Lys1677Glu, XP_047289984.1:p.Lys1677Glu, XP_047289980.1:p.Lys1677Glu, XP_047289971.1:p.Lys1677Glu, XP_047289983.1:p.Lys1677Glu, XP_047289968.1:p.Lys1677Glu, XP_047289970.1:p.Lys1677Glu, XP_047289979.1:p.Lys1677Glu, XP_047289981.1:p.Lys1677Glu, XP_047289966.1:p.Lys1677Glu, XP_047289986.1:p.Lys1643Glu, XP_047289972.1:p.Lys1677Glu, XP_047289973.1:p.Lys1677Glu, XP_047289988.1:p.Lys1634Glu, XP_047289985.1:p.Lys1643Glu, XP_047289967.1:p.Lys1677Glu, XP_047289987.1:p.Lys1643Glu

                      11.

                      rs1488664550 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        16:89282827 (GRCh38)
                        16:89349235 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:89282826:G:A,NC_000016.10:89282826:G:T
                        Gene:
                        ANKRD11 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000016.10:g.89282827G>A, NC_000016.10:g.89282827G>T, NC_000016.9:g.89349235G>A, NC_000016.9:g.89349235G>T, NG_032003.2:g.212735C>T, NG_032003.2:g.212735C>A, NM_013275.6:c.3715C>T, NM_013275.6:c.3715C>A, NM_013275.5:c.3715C>T, NM_013275.5:c.3715C>A, NM_001256182.2:c.3715C>T, NM_001256182.2:c.3715C>A, NM_001256182.1:c.3715C>T, NM_001256182.1:c.3715C>A, NM_001256183.2:c.3715C>T, NM_001256183.2:c.3715C>A, NM_001256183.1:c.3715C>T, NM_001256183.1:c.3715C>A, XM_011523057.3:c.3715C>T, XM_011523057.3:c.3715C>A, XM_011523057.2:c.3715C>T, XM_011523057.2:c.3715C>A, XM_011523057.1:c.3715C>T, XM_011523057.1:c.3715C>A, XM_011523053.3:c.3715C>T, XM_011523053.3:c.3715C>A, XM_011523053.2:c.3715C>T, XM_011523053.2:c.3715C>A, XM_011523053.1:c.3715C>T, XM_011523053.1:c.3715C>A, XM_017023184.2:c.3715C>T, XM_017023184.2:c.3715C>A, XM_017023184.1:c.3715C>T, XM_017023184.1:c.3715C>A, XM_017023187.2:c.3715C>T, XM_017023187.2:c.3715C>A, XM_017023187.1:c.3715C>T, XM_017023187.1:c.3715C>A, XM_047434020.1:c.3715C>T, XM_047434020.1:c.3715C>A, XM_047434019.1:c.3715C>T, XM_047434019.1:c.3715C>A, XM_047434018.1:c.3715C>T, XM_047434018.1:c.3715C>A, XM_047434026.1:c.3715C>T, XM_047434026.1:c.3715C>A, XM_047434021.1:c.3715C>T, XM_047434021.1:c.3715C>A, XM_047434022.1:c.3715C>T, XM_047434022.1:c.3715C>A, XM_047434028.1:c.3715C>T, XM_047434028.1:c.3715C>A, XM_047434024.1:c.3715C>T, XM_047434024.1:c.3715C>A, XM_047434015.1:c.3715C>T, XM_047434015.1:c.3715C>A, XM_047434027.1:c.3715C>T, XM_047434027.1:c.3715C>A, XM_047434012.1:c.3715C>T, XM_047434012.1:c.3715C>A, XM_047434014.1:c.3715C>T, XM_047434014.1:c.3715C>A, XM_047434023.1:c.3715C>T, XM_047434023.1:c.3715C>A, XM_047434025.1:c.3715C>T, XM_047434025.1:c.3715C>A, XM_047434010.1:c.3715C>T, XM_047434010.1:c.3715C>A, XM_047434030.1:c.3613C>T, XM_047434030.1:c.3613C>A, XM_047434016.1:c.3715C>T, XM_047434016.1:c.3715C>A, XM_047434017.1:c.3715C>T, XM_047434017.1:c.3715C>A, XM_047434032.1:c.3586C>T, XM_047434032.1:c.3586C>A, XM_047434029.1:c.3613C>T, XM_047434029.1:c.3613C>A, XM_047434011.1:c.3715C>T, XM_047434011.1:c.3715C>A, XM_047434031.1:c.3613C>T, XM_047434031.1:c.3613C>A, NP_037407.4:p.Pro1239Ser, NP_037407.4:p.Pro1239Thr, NP_001243111.1:p.Pro1239Ser, NP_001243111.1:p.Pro1239Thr, NP_001243112.1:p.Pro1239Ser, NP_001243112.1:p.Pro1239Thr, XP_011521359.1:p.Pro1239Ser, XP_011521359.1:p.Pro1239Thr, XP_011521355.1:p.Pro1239Ser, XP_011521355.1:p.Pro1239Thr, XP_016878673.1:p.Pro1239Ser, XP_016878673.1:p.Pro1239Thr, XP_016878676.1:p.Pro1239Ser, XP_016878676.1:p.Pro1239Thr, XP_047289976.1:p.Pro1239Ser, XP_047289976.1:p.Pro1239Thr, XP_047289975.1:p.Pro1239Ser, XP_047289975.1:p.Pro1239Thr, XP_047289974.1:p.Pro1239Ser, XP_047289974.1:p.Pro1239Thr, XP_047289982.1:p.Pro1239Ser, XP_047289982.1:p.Pro1239Thr, XP_047289977.1:p.Pro1239Ser, XP_047289977.1:p.Pro1239Thr, XP_047289978.1:p.Pro1239Ser, XP_047289978.1:p.Pro1239Thr, XP_047289984.1:p.Pro1239Ser, XP_047289984.1:p.Pro1239Thr, XP_047289980.1:p.Pro1239Ser, XP_047289980.1:p.Pro1239Thr, XP_047289971.1:p.Pro1239Ser, XP_047289971.1:p.Pro1239Thr, XP_047289983.1:p.Pro1239Ser, XP_047289983.1:p.Pro1239Thr, XP_047289968.1:p.Pro1239Ser, XP_047289968.1:p.Pro1239Thr, XP_047289970.1:p.Pro1239Ser, XP_047289970.1:p.Pro1239Thr, XP_047289979.1:p.Pro1239Ser, XP_047289979.1:p.Pro1239Thr, XP_047289981.1:p.Pro1239Ser, XP_047289981.1:p.Pro1239Thr, XP_047289966.1:p.Pro1239Ser, XP_047289966.1:p.Pro1239Thr, XP_047289986.1:p.Pro1205Ser, XP_047289986.1:p.Pro1205Thr, XP_047289972.1:p.Pro1239Ser, XP_047289972.1:p.Pro1239Thr, XP_047289973.1:p.Pro1239Ser, XP_047289973.1:p.Pro1239Thr, XP_047289988.1:p.Pro1196Ser, XP_047289988.1:p.Pro1196Thr, XP_047289985.1:p.Pro1205Ser, XP_047289985.1:p.Pro1205Thr, XP_047289967.1:p.Pro1239Ser, XP_047289967.1:p.Pro1239Thr, XP_047289987.1:p.Pro1205Ser, XP_047289987.1:p.Pro1205Thr

                        12.

                        rs1488507469 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:89281813 (GRCh38)
                          16:89348221 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:89281812:C:T
                          Gene:
                          ANKRD11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_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_000016.10:g.89281813C>T, NC_000016.9:g.89348221C>T, NG_032003.2:g.213749G>A, NM_013275.6:c.4729G>A, NM_013275.5:c.4729G>A, NM_001256182.2:c.4729G>A, NM_001256182.1:c.4729G>A, NM_001256183.2:c.4729G>A, NM_001256183.1:c.4729G>A, XM_011523057.3:c.4729G>A, XM_011523057.2:c.4729G>A, XM_011523057.1:c.4729G>A, XM_011523053.3:c.4729G>A, XM_011523053.2:c.4729G>A, XM_011523053.1:c.4729G>A, XM_017023184.2:c.4729G>A, XM_017023184.1:c.4729G>A, XM_017023187.2:c.4729G>A, XM_017023187.1:c.4729G>A, XM_047434020.1:c.4729G>A, XM_047434019.1:c.4729G>A, XM_047434018.1:c.4729G>A, XM_047434026.1:c.4729G>A, XM_047434021.1:c.4729G>A, XM_047434022.1:c.4729G>A, XM_047434028.1:c.4729G>A, XM_047434024.1:c.4729G>A, XM_047434015.1:c.4729G>A, XM_047434027.1:c.4729G>A, XM_047434012.1:c.4729G>A, XM_047434014.1:c.4729G>A, XM_047434023.1:c.4729G>A, XM_047434025.1:c.4729G>A, XM_047434010.1:c.4729G>A, XM_047434030.1:c.4627G>A, XM_047434016.1:c.4729G>A, XM_047434017.1:c.4729G>A, XM_047434032.1:c.4600G>A, XM_047434029.1:c.4627G>A, XM_047434011.1:c.4729G>A, XM_047434031.1:c.4627G>A, NP_037407.4:p.Asp1577Asn, NP_001243111.1:p.Asp1577Asn, NP_001243112.1:p.Asp1577Asn, XP_011521359.1:p.Asp1577Asn, XP_011521355.1:p.Asp1577Asn, XP_016878673.1:p.Asp1577Asn, XP_016878676.1:p.Asp1577Asn, XP_047289976.1:p.Asp1577Asn, XP_047289975.1:p.Asp1577Asn, XP_047289974.1:p.Asp1577Asn, XP_047289982.1:p.Asp1577Asn, XP_047289977.1:p.Asp1577Asn, XP_047289978.1:p.Asp1577Asn, XP_047289984.1:p.Asp1577Asn, XP_047289980.1:p.Asp1577Asn, XP_047289971.1:p.Asp1577Asn, XP_047289983.1:p.Asp1577Asn, XP_047289968.1:p.Asp1577Asn, XP_047289970.1:p.Asp1577Asn, XP_047289979.1:p.Asp1577Asn, XP_047289981.1:p.Asp1577Asn, XP_047289966.1:p.Asp1577Asn, XP_047289986.1:p.Asp1543Asn, XP_047289972.1:p.Asp1577Asn, XP_047289973.1:p.Asp1577Asn, XP_047289988.1:p.Asp1534Asn, XP_047289985.1:p.Asp1543Asn, XP_047289967.1:p.Asp1577Asn, XP_047289987.1:p.Asp1543Asn

                          13.

                          rs1488246679 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:89279793 (GRCh38)
                            16:89346201 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:89279792:G:A
                            Gene:
                            ANKRD11 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.89279793G>A, NC_000016.9:g.89346201G>A, NG_032003.2:g.215769C>T, NM_013275.6:c.6749C>T, NM_013275.5:c.6749C>T, NM_001256182.2:c.6749C>T, NM_001256182.1:c.6749C>T, NM_001256183.2:c.6749C>T, NM_001256183.1:c.6749C>T, XM_011523057.3:c.6749C>T, XM_011523057.2:c.6749C>T, XM_011523057.1:c.6749C>T, XM_011523053.3:c.6749C>T, XM_011523053.2:c.6749C>T, XM_011523053.1:c.6749C>T, XM_017023184.2:c.6749C>T, XM_017023184.1:c.6749C>T, XM_017023187.2:c.6749C>T, XM_017023187.1:c.6749C>T, XM_047434020.1:c.6749C>T, XM_047434019.1:c.6749C>T, XM_047434018.1:c.6749C>T, XM_047434026.1:c.6749C>T, XM_047434021.1:c.6749C>T, XM_047434022.1:c.6749C>T, XM_047434028.1:c.6749C>T, XM_047434024.1:c.6749C>T, XM_047434015.1:c.6749C>T, XM_047434027.1:c.6749C>T, XM_047434012.1:c.6749C>T, XM_047434014.1:c.6749C>T, XM_047434023.1:c.6749C>T, XM_047434025.1:c.6749C>T, XM_047434010.1:c.6749C>T, XM_047434030.1:c.6647C>T, XM_047434016.1:c.6749C>T, XM_047434017.1:c.6749C>T, XM_047434032.1:c.6620C>T, XM_047434029.1:c.6647C>T, XM_047434011.1:c.6749C>T, XM_047434031.1:c.6647C>T, NP_037407.4:p.Pro2250Leu, NP_001243111.1:p.Pro2250Leu, NP_001243112.1:p.Pro2250Leu, XP_011521359.1:p.Pro2250Leu, XP_011521355.1:p.Pro2250Leu, XP_016878673.1:p.Pro2250Leu, XP_016878676.1:p.Pro2250Leu, XP_047289976.1:p.Pro2250Leu, XP_047289975.1:p.Pro2250Leu, XP_047289974.1:p.Pro2250Leu, XP_047289982.1:p.Pro2250Leu, XP_047289977.1:p.Pro2250Leu, XP_047289978.1:p.Pro2250Leu, XP_047289984.1:p.Pro2250Leu, XP_047289980.1:p.Pro2250Leu, XP_047289971.1:p.Pro2250Leu, XP_047289983.1:p.Pro2250Leu, XP_047289968.1:p.Pro2250Leu, XP_047289970.1:p.Pro2250Leu, XP_047289979.1:p.Pro2250Leu, XP_047289981.1:p.Pro2250Leu, XP_047289966.1:p.Pro2250Leu, XP_047289986.1:p.Pro2216Leu, XP_047289972.1:p.Pro2250Leu, XP_047289973.1:p.Pro2250Leu, XP_047289988.1:p.Pro2207Leu, XP_047289985.1:p.Pro2216Leu, XP_047289967.1:p.Pro2250Leu, XP_047289987.1:p.Pro2216Leu

                            14.

                            rs1488196793 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GATCACCTCCCGCGTCTGCTG>-,GATCACCTCCCGCGTCTGCTGGATCACCTCCCGCGTCTGCTG [Show Flanks]
                              Chromosome:
                              16:89279309 (GRCh38)
                              16:89345717 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:89279298:GCGTCTGCTGGATCACCTCCCGCGTCTGCTG:GCGTCTGCTG,NC_000016.10:89279298:GCGTCTGCTGGATCACCTCCCGCGTCTGCTG:GCGTCTGCTGGATCACCTCCCGCGTCTGCTGGATCACCTCCCGCGTCTGCTG
                              Gene:
                              ANKRD11 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant,inframe_insertion
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GCGTCTGCTGGATCACCTCCCGCGTCTGCTGGATCACCTCCCGCGTCTGCTG=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000016.10:g.89279309_89279329del, NC_000016.10:g.89279309_89279329dup, NC_000016.9:g.89345717_89345737del, NC_000016.9:g.89345717_89345737dup, NG_032003.2:g.216243_216263del, NG_032003.2:g.216243_216263dup, NM_013275.6:c.7223_7243del, NM_013275.6:c.7223_7243dup, NM_013275.5:c.7223_7243del, NM_013275.5:c.7223_7243dup, NM_001256182.2:c.7223_7243del, NM_001256182.2:c.7223_7243dup, NM_001256182.1:c.7223_7243del, NM_001256182.1:c.7223_7243dup, NM_001256183.2:c.7223_7243del, NM_001256183.2:c.7223_7243dup, NM_001256183.1:c.7223_7243del, NM_001256183.1:c.7223_7243dup, XM_011523057.3:c.7223_7243del, XM_011523057.3:c.7223_7243dup, XM_011523057.2:c.7223_7243del, XM_011523057.2:c.7223_7243dup, XM_011523057.1:c.7223_7243del, XM_011523057.1:c.7223_7243dup, XM_011523053.3:c.7223_7243del, XM_011523053.3:c.7223_7243dup, XM_011523053.2:c.7223_7243del, XM_011523053.2:c.7223_7243dup, XM_011523053.1:c.7223_7243del, XM_011523053.1:c.7223_7243dup, XM_017023184.2:c.7223_7243del, XM_017023184.2:c.7223_7243dup, XM_017023184.1:c.7223_7243del, XM_017023184.1:c.7223_7243dup, XM_017023187.2:c.7223_7243del, XM_017023187.2:c.7223_7243dup, XM_017023187.1:c.7223_7243del, XM_017023187.1:c.7223_7243dup, XM_047434020.1:c.7223_7243del, XM_047434020.1:c.7223_7243dup, XM_047434019.1:c.7223_7243del, XM_047434019.1:c.7223_7243dup, XM_047434018.1:c.7223_7243del, XM_047434018.1:c.7223_7243dup, XM_047434026.1:c.7223_7243del, XM_047434026.1:c.7223_7243dup, XM_047434021.1:c.7223_7243del, XM_047434021.1:c.7223_7243dup, XM_047434022.1:c.7223_7243del, XM_047434022.1:c.7223_7243dup, XM_047434028.1:c.7223_7243del, XM_047434028.1:c.7223_7243dup, XM_047434024.1:c.7223_7243del, XM_047434024.1:c.7223_7243dup, XM_047434015.1:c.7223_7243del, XM_047434015.1:c.7223_7243dup, XM_047434027.1:c.7223_7243del, XM_047434027.1:c.7223_7243dup, XM_047434012.1:c.7223_7243del, XM_047434012.1:c.7223_7243dup, XM_047434014.1:c.7223_7243del, XM_047434014.1:c.7223_7243dup, XM_047434023.1:c.7223_7243del, XM_047434023.1:c.7223_7243dup, XM_047434025.1:c.7223_7243del, XM_047434025.1:c.7223_7243dup, XM_047434010.1:c.7223_7243del, XM_047434010.1:c.7223_7243dup, XM_047434030.1:c.7121_7141del, XM_047434030.1:c.7121_7141dup, XM_047434016.1:c.7223_7243del, XM_047434016.1:c.7223_7243dup, XM_047434017.1:c.7223_7243del, XM_047434017.1:c.7223_7243dup, XM_047434032.1:c.7094_7114del, XM_047434032.1:c.7094_7114dup, XM_047434029.1:c.7121_7141del, XM_047434029.1:c.7121_7141dup, XM_047434011.1:c.7223_7243del, XM_047434011.1:c.7223_7243dup, XM_047434031.1:c.7121_7141del, XM_047434031.1:c.7121_7141dup, NP_037407.4:p.Arg2408_Thr2414del, NP_037407.4:p.Arg2408_Thr2414dup, NP_001243111.1:p.Arg2408_Thr2414del, NP_001243111.1:p.Arg2408_Thr2414dup, NP_001243112.1:p.Arg2408_Thr2414del, NP_001243112.1:p.Arg2408_Thr2414dup, XP_011521359.1:p.Arg2408_Thr2414del, XP_011521359.1:p.Arg2408_Thr2414dup, XP_011521355.1:p.Arg2408_Thr2414del, XP_011521355.1:p.Arg2408_Thr2414dup, XP_016878673.1:p.Arg2408_Thr2414del, XP_016878673.1:p.Arg2408_Thr2414dup, XP_016878676.1:p.Arg2408_Thr2414del, XP_016878676.1:p.Arg2408_Thr2414dup, XP_047289976.1:p.Arg2408_Thr2414del, XP_047289976.1:p.Arg2408_Thr2414dup, XP_047289975.1:p.Arg2408_Thr2414del, XP_047289975.1:p.Arg2408_Thr2414dup, XP_047289974.1:p.Arg2408_Thr2414del, XP_047289974.1:p.Arg2408_Thr2414dup, XP_047289982.1:p.Arg2408_Thr2414del, XP_047289982.1:p.Arg2408_Thr2414dup, XP_047289977.1:p.Arg2408_Thr2414del, XP_047289977.1:p.Arg2408_Thr2414dup, XP_047289978.1:p.Arg2408_Thr2414del, XP_047289978.1:p.Arg2408_Thr2414dup, XP_047289984.1:p.Arg2408_Thr2414del, XP_047289984.1:p.Arg2408_Thr2414dup, XP_047289980.1:p.Arg2408_Thr2414del, XP_047289980.1:p.Arg2408_Thr2414dup, XP_047289971.1:p.Arg2408_Thr2414del, XP_047289971.1:p.Arg2408_Thr2414dup, XP_047289983.1:p.Arg2408_Thr2414del, XP_047289983.1:p.Arg2408_Thr2414dup, XP_047289968.1:p.Arg2408_Thr2414del, XP_047289968.1:p.Arg2408_Thr2414dup, XP_047289970.1:p.Arg2408_Thr2414del, XP_047289970.1:p.Arg2408_Thr2414dup, XP_047289979.1:p.Arg2408_Thr2414del, XP_047289979.1:p.Arg2408_Thr2414dup, XP_047289981.1:p.Arg2408_Thr2414del, XP_047289981.1:p.Arg2408_Thr2414dup, XP_047289966.1:p.Arg2408_Thr2414del, XP_047289966.1:p.Arg2408_Thr2414dup, XP_047289986.1:p.Arg2374_Thr2380del, XP_047289986.1:p.Arg2374_Thr2380dup, XP_047289972.1:p.Arg2408_Thr2414del, XP_047289972.1:p.Arg2408_Thr2414dup, XP_047289973.1:p.Arg2408_Thr2414del, XP_047289973.1:p.Arg2408_Thr2414dup, XP_047289988.1:p.Arg2365_Thr2371del, XP_047289988.1:p.Arg2365_Thr2371dup, XP_047289985.1:p.Arg2374_Thr2380del, XP_047289985.1:p.Arg2374_Thr2380dup, XP_047289967.1:p.Arg2408_Thr2414del, XP_047289967.1:p.Arg2408_Thr2414dup, XP_047289987.1:p.Arg2374_Thr2380del, XP_047289987.1:p.Arg2374_Thr2380dup

                              15.

                              rs1488159445 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                16:89279608 (GRCh38)
                                16:89346016 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:89279607:G:A,NC_000016.10:89279607:G:T
                                Gene:
                                ANKRD11 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000016.10:g.89279608G>A, NC_000016.10:g.89279608G>T, NC_000016.9:g.89346016G>A, NC_000016.9:g.89346016G>T, NG_032003.2:g.215954C>T, NG_032003.2:g.215954C>A, NM_013275.6:c.6934C>T, NM_013275.6:c.6934C>A, NM_013275.5:c.6934C>T, NM_013275.5:c.6934C>A, NM_001256182.2:c.6934C>T, NM_001256182.2:c.6934C>A, NM_001256182.1:c.6934C>T, NM_001256182.1:c.6934C>A, NM_001256183.2:c.6934C>T, NM_001256183.2:c.6934C>A, NM_001256183.1:c.6934C>T, NM_001256183.1:c.6934C>A, XM_011523057.3:c.6934C>T, XM_011523057.3:c.6934C>A, XM_011523057.2:c.6934C>T, XM_011523057.2:c.6934C>A, XM_011523057.1:c.6934C>T, XM_011523057.1:c.6934C>A, XM_011523053.3:c.6934C>T, XM_011523053.3:c.6934C>A, XM_011523053.2:c.6934C>T, XM_011523053.2:c.6934C>A, XM_011523053.1:c.6934C>T, XM_011523053.1:c.6934C>A, XM_017023184.2:c.6934C>T, XM_017023184.2:c.6934C>A, XM_017023184.1:c.6934C>T, XM_017023184.1:c.6934C>A, XM_017023187.2:c.6934C>T, XM_017023187.2:c.6934C>A, XM_017023187.1:c.6934C>T, XM_017023187.1:c.6934C>A, XM_047434020.1:c.6934C>T, XM_047434020.1:c.6934C>A, XM_047434019.1:c.6934C>T, XM_047434019.1:c.6934C>A, XM_047434018.1:c.6934C>T, XM_047434018.1:c.6934C>A, XM_047434026.1:c.6934C>T, XM_047434026.1:c.6934C>A, XM_047434021.1:c.6934C>T, XM_047434021.1:c.6934C>A, XM_047434022.1:c.6934C>T, XM_047434022.1:c.6934C>A, XM_047434028.1:c.6934C>T, XM_047434028.1:c.6934C>A, XM_047434024.1:c.6934C>T, XM_047434024.1:c.6934C>A, XM_047434015.1:c.6934C>T, XM_047434015.1:c.6934C>A, XM_047434027.1:c.6934C>T, XM_047434027.1:c.6934C>A, XM_047434012.1:c.6934C>T, XM_047434012.1:c.6934C>A, XM_047434014.1:c.6934C>T, XM_047434014.1:c.6934C>A, XM_047434023.1:c.6934C>T, XM_047434023.1:c.6934C>A, XM_047434025.1:c.6934C>T, XM_047434025.1:c.6934C>A, XM_047434010.1:c.6934C>T, XM_047434010.1:c.6934C>A, XM_047434030.1:c.6832C>T, XM_047434030.1:c.6832C>A, XM_047434016.1:c.6934C>T, XM_047434016.1:c.6934C>A, XM_047434017.1:c.6934C>T, XM_047434017.1:c.6934C>A, XM_047434032.1:c.6805C>T, XM_047434032.1:c.6805C>A, XM_047434029.1:c.6832C>T, XM_047434029.1:c.6832C>A, XM_047434011.1:c.6934C>T, XM_047434011.1:c.6934C>A, XM_047434031.1:c.6832C>T, XM_047434031.1:c.6832C>A, NP_037407.4:p.Pro2312Ser, NP_037407.4:p.Pro2312Thr, NP_001243111.1:p.Pro2312Ser, NP_001243111.1:p.Pro2312Thr, NP_001243112.1:p.Pro2312Ser, NP_001243112.1:p.Pro2312Thr, XP_011521359.1:p.Pro2312Ser, XP_011521359.1:p.Pro2312Thr, XP_011521355.1:p.Pro2312Ser, XP_011521355.1:p.Pro2312Thr, XP_016878673.1:p.Pro2312Ser, XP_016878673.1:p.Pro2312Thr, XP_016878676.1:p.Pro2312Ser, XP_016878676.1:p.Pro2312Thr, XP_047289976.1:p.Pro2312Ser, XP_047289976.1:p.Pro2312Thr, XP_047289975.1:p.Pro2312Ser, XP_047289975.1:p.Pro2312Thr, XP_047289974.1:p.Pro2312Ser, XP_047289974.1:p.Pro2312Thr, XP_047289982.1:p.Pro2312Ser, XP_047289982.1:p.Pro2312Thr, XP_047289977.1:p.Pro2312Ser, XP_047289977.1:p.Pro2312Thr, XP_047289978.1:p.Pro2312Ser, XP_047289978.1:p.Pro2312Thr, XP_047289984.1:p.Pro2312Ser, XP_047289984.1:p.Pro2312Thr, XP_047289980.1:p.Pro2312Ser, XP_047289980.1:p.Pro2312Thr, XP_047289971.1:p.Pro2312Ser, XP_047289971.1:p.Pro2312Thr, XP_047289983.1:p.Pro2312Ser, XP_047289983.1:p.Pro2312Thr, XP_047289968.1:p.Pro2312Ser, XP_047289968.1:p.Pro2312Thr, XP_047289970.1:p.Pro2312Ser, XP_047289970.1:p.Pro2312Thr, XP_047289979.1:p.Pro2312Ser, XP_047289979.1:p.Pro2312Thr, XP_047289981.1:p.Pro2312Ser, XP_047289981.1:p.Pro2312Thr, XP_047289966.1:p.Pro2312Ser, XP_047289966.1:p.Pro2312Thr, XP_047289986.1:p.Pro2278Ser, XP_047289986.1:p.Pro2278Thr, XP_047289972.1:p.Pro2312Ser, XP_047289972.1:p.Pro2312Thr, XP_047289973.1:p.Pro2312Ser, XP_047289973.1:p.Pro2312Thr, XP_047289988.1:p.Pro2269Ser, XP_047289988.1:p.Pro2269Thr, XP_047289985.1:p.Pro2278Ser, XP_047289985.1:p.Pro2278Thr, XP_047289967.1:p.Pro2312Ser, XP_047289967.1:p.Pro2312Thr, XP_047289987.1:p.Pro2278Ser, XP_047289987.1:p.Pro2278Thr

                                16.

                                rs1487348306 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  16:89282244 (GRCh38)
                                  16:89348652 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:89282243:G:A,NC_000016.10:89282243:G:C
                                  Gene:
                                  ANKRD11 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.89282244G>A, NC_000016.10:g.89282244G>C, NC_000016.9:g.89348652G>A, NC_000016.9:g.89348652G>C, NG_032003.2:g.213318C>T, NG_032003.2:g.213318C>G, NM_013275.6:c.4298C>T, NM_013275.6:c.4298C>G, NM_013275.5:c.4298C>T, NM_013275.5:c.4298C>G, NM_001256182.2:c.4298C>T, NM_001256182.2:c.4298C>G, NM_001256182.1:c.4298C>T, NM_001256182.1:c.4298C>G, NM_001256183.2:c.4298C>T, NM_001256183.2:c.4298C>G, NM_001256183.1:c.4298C>T, NM_001256183.1:c.4298C>G, XM_011523057.3:c.4298C>T, XM_011523057.3:c.4298C>G, XM_011523057.2:c.4298C>T, XM_011523057.2:c.4298C>G, XM_011523057.1:c.4298C>T, XM_011523057.1:c.4298C>G, XM_011523053.3:c.4298C>T, XM_011523053.3:c.4298C>G, XM_011523053.2:c.4298C>T, XM_011523053.2:c.4298C>G, XM_011523053.1:c.4298C>T, XM_011523053.1:c.4298C>G, XM_017023184.2:c.4298C>T, XM_017023184.2:c.4298C>G, XM_017023184.1:c.4298C>T, XM_017023184.1:c.4298C>G, XM_017023187.2:c.4298C>T, XM_017023187.2:c.4298C>G, XM_017023187.1:c.4298C>T, XM_017023187.1:c.4298C>G, XM_047434020.1:c.4298C>T, XM_047434020.1:c.4298C>G, XM_047434019.1:c.4298C>T, XM_047434019.1:c.4298C>G, XM_047434018.1:c.4298C>T, XM_047434018.1:c.4298C>G, XM_047434026.1:c.4298C>T, XM_047434026.1:c.4298C>G, XM_047434021.1:c.4298C>T, XM_047434021.1:c.4298C>G, XM_047434022.1:c.4298C>T, XM_047434022.1:c.4298C>G, XM_047434028.1:c.4298C>T, XM_047434028.1:c.4298C>G, XM_047434024.1:c.4298C>T, XM_047434024.1:c.4298C>G, XM_047434015.1:c.4298C>T, XM_047434015.1:c.4298C>G, XM_047434027.1:c.4298C>T, XM_047434027.1:c.4298C>G, XM_047434012.1:c.4298C>T, XM_047434012.1:c.4298C>G, XM_047434014.1:c.4298C>T, XM_047434014.1:c.4298C>G, XM_047434023.1:c.4298C>T, XM_047434023.1:c.4298C>G, XM_047434025.1:c.4298C>T, XM_047434025.1:c.4298C>G, XM_047434010.1:c.4298C>T, XM_047434010.1:c.4298C>G, XM_047434030.1:c.4196C>T, XM_047434030.1:c.4196C>G, XM_047434016.1:c.4298C>T, XM_047434016.1:c.4298C>G, XM_047434017.1:c.4298C>T, XM_047434017.1:c.4298C>G, XM_047434032.1:c.4169C>T, XM_047434032.1:c.4169C>G, XM_047434029.1:c.4196C>T, XM_047434029.1:c.4196C>G, XM_047434011.1:c.4298C>T, XM_047434011.1:c.4298C>G, XM_047434031.1:c.4196C>T, XM_047434031.1:c.4196C>G, NP_037407.4:p.Ser1433Phe, NP_037407.4:p.Ser1433Cys, NP_001243111.1:p.Ser1433Phe, NP_001243111.1:p.Ser1433Cys, NP_001243112.1:p.Ser1433Phe, NP_001243112.1:p.Ser1433Cys, XP_011521359.1:p.Ser1433Phe, XP_011521359.1:p.Ser1433Cys, XP_011521355.1:p.Ser1433Phe, XP_011521355.1:p.Ser1433Cys, XP_016878673.1:p.Ser1433Phe, XP_016878673.1:p.Ser1433Cys, XP_016878676.1:p.Ser1433Phe, XP_016878676.1:p.Ser1433Cys, XP_047289976.1:p.Ser1433Phe, XP_047289976.1:p.Ser1433Cys, XP_047289975.1:p.Ser1433Phe, XP_047289975.1:p.Ser1433Cys, XP_047289974.1:p.Ser1433Phe, XP_047289974.1:p.Ser1433Cys, XP_047289982.1:p.Ser1433Phe, XP_047289982.1:p.Ser1433Cys, XP_047289977.1:p.Ser1433Phe, XP_047289977.1:p.Ser1433Cys, XP_047289978.1:p.Ser1433Phe, XP_047289978.1:p.Ser1433Cys, XP_047289984.1:p.Ser1433Phe, XP_047289984.1:p.Ser1433Cys, XP_047289980.1:p.Ser1433Phe, XP_047289980.1:p.Ser1433Cys, XP_047289971.1:p.Ser1433Phe, XP_047289971.1:p.Ser1433Cys, XP_047289983.1:p.Ser1433Phe, XP_047289983.1:p.Ser1433Cys, XP_047289968.1:p.Ser1433Phe, XP_047289968.1:p.Ser1433Cys, XP_047289970.1:p.Ser1433Phe, XP_047289970.1:p.Ser1433Cys, XP_047289979.1:p.Ser1433Phe, XP_047289979.1:p.Ser1433Cys, XP_047289981.1:p.Ser1433Phe, XP_047289981.1:p.Ser1433Cys, XP_047289966.1:p.Ser1433Phe, XP_047289966.1:p.Ser1433Cys, XP_047289986.1:p.Ser1399Phe, XP_047289986.1:p.Ser1399Cys, XP_047289972.1:p.Ser1433Phe, XP_047289972.1:p.Ser1433Cys, XP_047289973.1:p.Ser1433Phe, XP_047289973.1:p.Ser1433Cys, XP_047289988.1:p.Ser1390Phe, XP_047289988.1:p.Ser1390Cys, XP_047289985.1:p.Ser1399Phe, XP_047289985.1:p.Ser1399Cys, XP_047289967.1:p.Ser1433Phe, XP_047289967.1:p.Ser1433Cys, XP_047289987.1:p.Ser1399Phe, XP_047289987.1:p.Ser1399Cys

                                  17.

                                  rs1486954020 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:89281065 (GRCh38)
                                    16:89347473 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:89281064:G:A
                                    Gene:
                                    ANKRD11 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.89281065G>A, NC_000016.9:g.89347473G>A, NG_032003.2:g.214497C>T, NM_013275.6:c.5477C>T, NM_013275.5:c.5477C>T, NM_001256182.2:c.5477C>T, NM_001256182.1:c.5477C>T, NM_001256183.2:c.5477C>T, NM_001256183.1:c.5477C>T, XM_011523057.3:c.5477C>T, XM_011523057.2:c.5477C>T, XM_011523057.1:c.5477C>T, XM_011523053.3:c.5477C>T, XM_011523053.2:c.5477C>T, XM_011523053.1:c.5477C>T, XM_017023184.2:c.5477C>T, XM_017023184.1:c.5477C>T, XM_017023187.2:c.5477C>T, XM_017023187.1:c.5477C>T, XM_047434020.1:c.5477C>T, XM_047434019.1:c.5477C>T, XM_047434018.1:c.5477C>T, XM_047434026.1:c.5477C>T, XM_047434021.1:c.5477C>T, XM_047434022.1:c.5477C>T, XM_047434028.1:c.5477C>T, XM_047434024.1:c.5477C>T, XM_047434015.1:c.5477C>T, XM_047434027.1:c.5477C>T, XM_047434012.1:c.5477C>T, XM_047434014.1:c.5477C>T, XM_047434023.1:c.5477C>T, XM_047434025.1:c.5477C>T, XM_047434010.1:c.5477C>T, XM_047434030.1:c.5375C>T, XM_047434016.1:c.5477C>T, XM_047434017.1:c.5477C>T, XM_047434032.1:c.5348C>T, XM_047434029.1:c.5375C>T, XM_047434011.1:c.5477C>T, XM_047434031.1:c.5375C>T, NP_037407.4:p.Pro1826Leu, NP_001243111.1:p.Pro1826Leu, NP_001243112.1:p.Pro1826Leu, XP_011521359.1:p.Pro1826Leu, XP_011521355.1:p.Pro1826Leu, XP_016878673.1:p.Pro1826Leu, XP_016878676.1:p.Pro1826Leu, XP_047289976.1:p.Pro1826Leu, XP_047289975.1:p.Pro1826Leu, XP_047289974.1:p.Pro1826Leu, XP_047289982.1:p.Pro1826Leu, XP_047289977.1:p.Pro1826Leu, XP_047289978.1:p.Pro1826Leu, XP_047289984.1:p.Pro1826Leu, XP_047289980.1:p.Pro1826Leu, XP_047289971.1:p.Pro1826Leu, XP_047289983.1:p.Pro1826Leu, XP_047289968.1:p.Pro1826Leu, XP_047289970.1:p.Pro1826Leu, XP_047289979.1:p.Pro1826Leu, XP_047289981.1:p.Pro1826Leu, XP_047289966.1:p.Pro1826Leu, XP_047289986.1:p.Pro1792Leu, XP_047289972.1:p.Pro1826Leu, XP_047289973.1:p.Pro1826Leu, XP_047289988.1:p.Pro1783Leu, XP_047289985.1:p.Pro1792Leu, XP_047289967.1:p.Pro1826Leu, XP_047289987.1:p.Pro1792Leu

                                    18.

                                    rs1486757557 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:89305322 (GRCh38)
                                      16:89371730 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:89305321:G:A
                                      Gene:
                                      ANKRD11 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.89305322G>A, NC_000016.9:g.89371730G>A, NG_032003.2:g.190240C>T, NM_013275.6:c.110C>T, NM_013275.5:c.110C>T, NM_001256182.2:c.110C>T, NM_001256182.1:c.110C>T, NM_001256183.2:c.110C>T, NM_001256183.1:c.110C>T, NR_045839.2:n.844C>T, NR_045839.1:n.844C>T, XM_011523057.3:c.110C>T, XM_011523057.2:c.110C>T, XM_011523057.1:c.110C>T, XM_011523053.3:c.110C>T, XM_011523053.2:c.110C>T, XM_011523053.1:c.110C>T, XM_017023184.2:c.110C>T, XM_017023184.1:c.110C>T, XM_017023187.2:c.110C>T, XM_017023187.1:c.110C>T, XM_047434020.1:c.110C>T, XM_047434019.1:c.110C>T, XM_047434018.1:c.110C>T, XM_047434026.1:c.110C>T, XM_047434021.1:c.110C>T, XM_047434022.1:c.110C>T, XM_047434028.1:c.110C>T, XM_047434024.1:c.110C>T, XM_047434015.1:c.110C>T, XM_047434027.1:c.110C>T, XM_047434012.1:c.110C>T, XM_047434014.1:c.110C>T, XM_047434023.1:c.110C>T, XM_047434025.1:c.110C>T, XM_047434010.1:c.110C>T, XM_047434030.1:c.-90C>T, XM_047434016.1:c.110C>T, XM_047434017.1:c.110C>T, XM_047434032.1:c.-139C>T, XM_047434029.1:c.-90C>T, XM_047434011.1:c.110C>T, XM_047434031.1:c.-90C>T, NP_037407.4:p.Thr37Ile, NP_001243111.1:p.Thr37Ile, NP_001243112.1:p.Thr37Ile, XP_011521359.1:p.Thr37Ile, XP_011521355.1:p.Thr37Ile, XP_016878673.1:p.Thr37Ile, XP_016878676.1:p.Thr37Ile, XP_047289976.1:p.Thr37Ile, XP_047289975.1:p.Thr37Ile, XP_047289974.1:p.Thr37Ile, XP_047289982.1:p.Thr37Ile, XP_047289977.1:p.Thr37Ile, XP_047289978.1:p.Thr37Ile, XP_047289984.1:p.Thr37Ile, XP_047289980.1:p.Thr37Ile, XP_047289971.1:p.Thr37Ile, XP_047289983.1:p.Thr37Ile, XP_047289968.1:p.Thr37Ile, XP_047289970.1:p.Thr37Ile, XP_047289979.1:p.Thr37Ile, XP_047289981.1:p.Thr37Ile, XP_047289966.1:p.Thr37Ile, XP_047289972.1:p.Thr37Ile, XP_047289973.1:p.Thr37Ile, XP_047289967.1:p.Thr37Ile

                                      19.

                                      rs1486685507 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:89280234 (GRCh38)
                                        16:89346642 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:89280233:A:G
                                        Gene:
                                        ANKRD11 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.89280234A>G, NC_000016.9:g.89346642A>G, NG_032003.2:g.215328T>C, NM_013275.6:c.6308T>C, NM_013275.5:c.6308T>C, NM_001256182.2:c.6308T>C, NM_001256182.1:c.6308T>C, NM_001256183.2:c.6308T>C, NM_001256183.1:c.6308T>C, XM_011523057.3:c.6308T>C, XM_011523057.2:c.6308T>C, XM_011523057.1:c.6308T>C, XM_011523053.3:c.6308T>C, XM_011523053.2:c.6308T>C, XM_011523053.1:c.6308T>C, XM_017023184.2:c.6308T>C, XM_017023184.1:c.6308T>C, XM_017023187.2:c.6308T>C, XM_017023187.1:c.6308T>C, XM_047434020.1:c.6308T>C, XM_047434019.1:c.6308T>C, XM_047434018.1:c.6308T>C, XM_047434026.1:c.6308T>C, XM_047434021.1:c.6308T>C, XM_047434022.1:c.6308T>C, XM_047434028.1:c.6308T>C, XM_047434024.1:c.6308T>C, XM_047434015.1:c.6308T>C, XM_047434027.1:c.6308T>C, XM_047434012.1:c.6308T>C, XM_047434014.1:c.6308T>C, XM_047434023.1:c.6308T>C, XM_047434025.1:c.6308T>C, XM_047434010.1:c.6308T>C, XM_047434030.1:c.6206T>C, XM_047434016.1:c.6308T>C, XM_047434017.1:c.6308T>C, XM_047434032.1:c.6179T>C, XM_047434029.1:c.6206T>C, XM_047434011.1:c.6308T>C, XM_047434031.1:c.6206T>C, NP_037407.4:p.Leu2103Pro, NP_001243111.1:p.Leu2103Pro, NP_001243112.1:p.Leu2103Pro, XP_011521359.1:p.Leu2103Pro, XP_011521355.1:p.Leu2103Pro, XP_016878673.1:p.Leu2103Pro, XP_016878676.1:p.Leu2103Pro, XP_047289976.1:p.Leu2103Pro, XP_047289975.1:p.Leu2103Pro, XP_047289974.1:p.Leu2103Pro, XP_047289982.1:p.Leu2103Pro, XP_047289977.1:p.Leu2103Pro, XP_047289978.1:p.Leu2103Pro, XP_047289984.1:p.Leu2103Pro, XP_047289980.1:p.Leu2103Pro, XP_047289971.1:p.Leu2103Pro, XP_047289983.1:p.Leu2103Pro, XP_047289968.1:p.Leu2103Pro, XP_047289970.1:p.Leu2103Pro, XP_047289979.1:p.Leu2103Pro, XP_047289981.1:p.Leu2103Pro, XP_047289966.1:p.Leu2103Pro, XP_047289986.1:p.Leu2069Pro, XP_047289972.1:p.Leu2103Pro, XP_047289973.1:p.Leu2103Pro, XP_047289988.1:p.Leu2060Pro, XP_047289985.1:p.Leu2069Pro, XP_047289967.1:p.Leu2103Pro, XP_047289987.1:p.Leu2069Pro

                                        20.

                                        rs1486498219 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          16:89285372 (GRCh38)
                                          16:89351780 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:89285371:A:C
                                          Gene:
                                          ANKRD11 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.89285372A>C, NC_000016.9:g.89351780A>C, NG_032003.2:g.210190T>G, NM_013275.6:c.1170T>G, NM_013275.5:c.1170T>G, NM_001256182.2:c.1170T>G, NM_001256182.1:c.1170T>G, NM_001256183.2:c.1170T>G, NM_001256183.1:c.1170T>G, XM_011523057.3:c.1170T>G, XM_011523057.2:c.1170T>G, XM_011523057.1:c.1170T>G, XM_011523053.3:c.1170T>G, XM_011523053.2:c.1170T>G, XM_011523053.1:c.1170T>G, XM_017023184.2:c.1170T>G, XM_017023184.1:c.1170T>G, XM_017023187.2:c.1170T>G, XM_017023187.1:c.1170T>G, XM_047434020.1:c.1170T>G, XM_047434019.1:c.1170T>G, XM_047434018.1:c.1170T>G, XM_047434026.1:c.1170T>G, XM_047434021.1:c.1170T>G, XM_047434022.1:c.1170T>G, XM_047434028.1:c.1170T>G, XM_047434024.1:c.1170T>G, XM_047434015.1:c.1170T>G, XM_047434027.1:c.1170T>G, XM_047434012.1:c.1170T>G, XM_047434014.1:c.1170T>G, XM_047434023.1:c.1170T>G, XM_047434025.1:c.1170T>G, XM_047434010.1:c.1170T>G, XM_047434030.1:c.1068T>G, XM_047434016.1:c.1170T>G, XM_047434017.1:c.1170T>G, XM_047434032.1:c.1041T>G, XM_047434029.1:c.1068T>G, XM_047434011.1:c.1170T>G, XM_047434031.1:c.1068T>G, NP_037407.4:p.Ser390Arg, NP_001243111.1:p.Ser390Arg, NP_001243112.1:p.Ser390Arg, XP_011521359.1:p.Ser390Arg, XP_011521355.1:p.Ser390Arg, XP_016878673.1:p.Ser390Arg, XP_016878676.1:p.Ser390Arg, XP_047289976.1:p.Ser390Arg, XP_047289975.1:p.Ser390Arg, XP_047289974.1:p.Ser390Arg, XP_047289982.1:p.Ser390Arg, XP_047289977.1:p.Ser390Arg, XP_047289978.1:p.Ser390Arg, XP_047289984.1:p.Ser390Arg, XP_047289980.1:p.Ser390Arg, XP_047289971.1:p.Ser390Arg, XP_047289983.1:p.Ser390Arg, XP_047289968.1:p.Ser390Arg, XP_047289970.1:p.Ser390Arg, XP_047289979.1:p.Ser390Arg, XP_047289981.1:p.Ser390Arg, XP_047289966.1:p.Ser390Arg, XP_047289986.1:p.Ser356Arg, XP_047289972.1:p.Ser390Arg, XP_047289973.1:p.Ser390Arg, XP_047289988.1:p.Ser347Arg, XP_047289985.1:p.Ser356Arg, XP_047289967.1:p.Ser390Arg, XP_047289987.1:p.Ser356Arg

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