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Items: 1 to 20 of 721

1.

rs1489116857 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>-,AA [Show Flanks]
    Chromosome:
    1:113956749 (GRCh38)
    1:114499371 (GRCh37)
    Canonical SPDI:
    NC_000001.11:113956748:AAAAA:AAAA,NC_000001.11:113956748:AAAAA:AAAAAA
    Gene:
    HIPK1 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.113956753del, NC_000001.11:g.113956753dup, NC_000001.10:g.114499375del, NC_000001.10:g.114499375dup, XM_005270610.6:c.1534del, XM_005270610.6:c.1534dup, XM_005270610.5:c.1534del, XM_005270610.5:c.1534dup, XM_005270610.4:c.1747del, XM_005270610.4:c.1747dup, XM_005270610.3:c.1747del, XM_005270610.3:c.1747dup, XM_005270610.2:c.1747del, XM_005270610.2:c.1747dup, XM_005270610.1:c.1747del, XM_005270610.1:c.1747dup, XM_005270611.6:c.1534del, XM_005270611.6:c.1534dup, XM_005270611.5:c.1534del, XM_005270611.5:c.1534dup, XM_005270611.4:c.1747del, XM_005270611.4:c.1747dup, XM_005270611.3:c.1747del, XM_005270611.3:c.1747dup, XM_005270611.2:c.1747del, XM_005270611.2:c.1747dup, XM_005270611.1:c.1747del, XM_005270611.1:c.1747dup, XM_006710443.5:c.1534del, XM_006710443.5:c.1534dup, XM_006710443.4:c.1534del, XM_006710443.4:c.1534dup, XM_006710443.3:c.1747del, XM_006710443.3:c.1747dup, XM_006710443.2:c.1747del, XM_006710443.2:c.1747dup, XM_006710443.1:c.1747del, XM_006710443.1:c.1747dup, XM_011540977.4:c.1414del, XM_011540977.4:c.1414dup, XM_011540977.3:c.1414del, XM_011540977.3:c.1414dup, XM_011540977.2:c.1627del, XM_011540977.2:c.1627dup, XM_011540977.1:c.1627del, XM_011540977.1:c.1627dup, NM_152696.4:c.1534del, NM_152696.4:c.1534dup, NM_152696.3:c.1534del, NM_152696.3:c.1534dup, NM_198268.3:c.1534del, NM_198268.3:c.1534dup, NM_198268.2:c.1534del, NM_198268.2:c.1534dup, NM_198269.3:c.412del, NM_198269.3:c.412dup, NM_198269.2:c.412del, NM_198269.2:c.412dup, NM_181358.3:c.352del, NM_181358.3:c.352dup, NM_181358.2:c.352del, NM_181358.2:c.352dup, XM_047449139.1:c.1534del, XM_047449139.1:c.1534dup, XM_047449134.1:c.1534del, XM_047449134.1:c.1534dup, XM_047449119.1:c.1534del, XM_047449119.1:c.1534dup, XM_047449128.1:c.1534del, XM_047449128.1:c.1534dup, NM_001369806.1:c.1534del, NM_001369806.1:c.1534dup, NM_001369807.1:c.1534del, NM_001369807.1:c.1534dup, XM_047449129.1:c.1414del, XM_047449129.1:c.1414dup, XM_047449130.1:c.1534del, XM_047449130.1:c.1534dup, XM_047449141.1:c.1534del, XM_047449141.1:c.1534dup, NM_001410847.1:c.1534del, NM_001410847.1:c.1534dup, XP_005270667.2:p.Thr512fs, XP_005270667.2:p.Thr512fs, XP_005270668.2:p.Thr512fs, XP_005270668.2:p.Thr512fs, XP_006710506.2:p.Thr512fs, XP_006710506.2:p.Thr512fs, XP_011539279.2:p.Thr472fs, XP_011539279.2:p.Thr472fs, NP_689909.2:p.Thr512fs, NP_689909.2:p.Thr512fs, NP_938009.1:p.Thr512fs, NP_938009.1:p.Thr512fs, NP_938010.1:p.Thr138fs, NP_938010.1:p.Thr138fs, NP_852003.1:p.Thr118fs, NP_852003.1:p.Thr118fs, XP_047305095.1:p.Thr512fs, XP_047305095.1:p.Thr512fs, XP_047305090.1:p.Thr512fs, XP_047305090.1:p.Thr512fs, XP_047305075.1:p.Thr512fs, XP_047305075.1:p.Thr512fs, XP_047305084.1:p.Thr512fs, XP_047305084.1:p.Thr512fs, NP_001356735.1:p.Thr512fs, NP_001356735.1:p.Thr512fs, NP_001356736.1:p.Thr512fs, NP_001356736.1:p.Thr512fs, XP_047305085.1:p.Thr472fs, XP_047305085.1:p.Thr472fs, XP_047305086.1:p.Thr512fs, XP_047305086.1:p.Thr512fs, XP_047305097.1:p.Thr512fs, XP_047305097.1:p.Thr512fs

    2.

    rs1488187573 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      1:113973245 (GRCh38)
      1:114515867 (GRCh37)
      Canonical SPDI:
      NC_000001.11:113973244:A:C,NC_000001.11:113973244:A:G
      Gene:
      HIPK1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000028/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000021/3 (GnomAD)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000001.11:g.113973245A>C, NC_000001.11:g.113973245A>G, NC_000001.10:g.114515867A>C, NC_000001.10:g.114515867A>G, XM_005270610.6:c.3363A>C, XM_005270610.6:c.3363A>G, XM_005270610.5:c.3363A>C, XM_005270610.5:c.3363A>G, XM_005270610.4:c.3576A>C, XM_005270610.4:c.3576A>G, XM_005270610.3:c.3576A>C, XM_005270610.3:c.3576A>G, XM_005270610.2:c.3576A>C, XM_005270610.2:c.3576A>G, XM_005270610.1:c.3576A>C, XM_005270610.1:c.3576A>G, XM_005270611.6:c.3291A>C, XM_005270611.6:c.3291A>G, XM_005270611.5:c.3291A>C, XM_005270611.5:c.3291A>G, XM_005270611.4:c.3504A>C, XM_005270611.4:c.3504A>G, XM_005270611.3:c.3504A>C, XM_005270611.3:c.3504A>G, XM_005270611.2:c.3504A>C, XM_005270611.2:c.3504A>G, XM_005270611.1:c.3504A>C, XM_005270611.1:c.3504A>G, XM_006710443.5:c.3264A>C, XM_006710443.5:c.3264A>G, XM_006710443.4:c.3264A>C, XM_006710443.4:c.3264A>G, XM_006710443.3:c.3477A>C, XM_006710443.3:c.3477A>G, XM_006710443.2:c.3477A>C, XM_006710443.2:c.3477A>G, XM_006710443.1:c.3477A>C, XM_006710443.1:c.3477A>G, XM_011540977.4:c.3246A>C, XM_011540977.4:c.3246A>G, XM_011540977.3:c.3246A>C, XM_011540977.3:c.3246A>G, XM_011540977.2:c.3459A>C, XM_011540977.2:c.3459A>G, XM_011540977.1:c.3459A>C, XM_011540977.1:c.3459A>G, NM_198268.3:c.3366A>C, NM_198268.3:c.3366A>G, NM_198268.2:c.3366A>C, NM_198268.2:c.3366A>G, NM_198269.3:c.2244A>C, NM_198269.3:c.2244A>G, NM_198269.2:c.2244A>C, NM_198269.2:c.2244A>G, NM_181358.3:c.2184A>C, NM_181358.3:c.2184A>G, NM_181358.2:c.2184A>C, NM_181358.2:c.2184A>G, XM_047449139.1:c.3366A>C, XM_047449139.1:c.3366A>G, XM_047449134.1:c.3366A>C, XM_047449134.1:c.3366A>G, XM_047449119.1:c.3288A>C, XM_047449119.1:c.3288A>G, XM_047449128.1:c.3261A>C, XM_047449128.1:c.3261A>G, NM_001369806.1:c.3366A>C, NM_001369806.1:c.3366A>G, NM_001369807.1:c.3363A>C, NM_001369807.1:c.3363A>G, XM_047449129.1:c.3243A>C, XM_047449129.1:c.3243A>G, XM_047449130.1:c.3189A>C, XM_047449130.1:c.3189A>G, XM_047449141.1:c.3264A>C, XM_047449141.1:c.3264A>G, NM_001410847.1:c.3264A>C, NM_001410847.1:c.3264A>G

      3.

      rs1487236065 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:113973172 (GRCh38)
        1:114515794 (GRCh37)
        Canonical SPDI:
        NC_000001.11:113973171:T:C
        Gene:
        HIPK1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.113973172T>C, NC_000001.10:g.114515794T>C, XM_005270610.6:c.3290T>C, XM_005270610.5:c.3290T>C, XM_005270610.4:c.3503T>C, XM_005270610.3:c.3503T>C, XM_005270610.2:c.3503T>C, XM_005270610.1:c.3503T>C, XM_005270611.6:c.3218T>C, XM_005270611.5:c.3218T>C, XM_005270611.4:c.3431T>C, XM_005270611.3:c.3431T>C, XM_005270611.2:c.3431T>C, XM_005270611.1:c.3431T>C, XM_006710443.5:c.3191T>C, XM_006710443.4:c.3191T>C, XM_006710443.3:c.3404T>C, XM_006710443.2:c.3404T>C, XM_006710443.1:c.3404T>C, XM_011540977.4:c.3173T>C, XM_011540977.3:c.3173T>C, XM_011540977.2:c.3386T>C, XM_011540977.1:c.3386T>C, NM_198268.3:c.3293T>C, NM_198268.2:c.3293T>C, NM_198269.3:c.2171T>C, NM_198269.2:c.2171T>C, NM_181358.3:c.2111T>C, NM_181358.2:c.2111T>C, XM_047449139.1:c.3293T>C, XM_047449134.1:c.3293T>C, XM_047449119.1:c.3215T>C, XM_047449128.1:c.3188T>C, NM_001369806.1:c.3293T>C, NM_001369807.1:c.3290T>C, XM_047449129.1:c.3170T>C, XM_047449130.1:c.3116T>C, XM_047449141.1:c.3191T>C, NM_001410847.1:c.3191T>C, XP_005270667.2:p.Leu1097Pro, XP_005270668.2:p.Leu1073Pro, XP_006710506.2:p.Leu1064Pro, XP_011539279.2:p.Leu1058Pro, NP_938009.1:p.Leu1098Pro, NP_938010.1:p.Leu724Pro, NP_852003.1:p.Leu704Pro, XP_047305095.1:p.Leu1098Pro, XP_047305090.1:p.Leu1098Pro, XP_047305075.1:p.Leu1072Pro, XP_047305084.1:p.Leu1063Pro, NP_001356735.1:p.Leu1098Pro, NP_001356736.1:p.Leu1097Pro, XP_047305085.1:p.Leu1057Pro, XP_047305086.1:p.Leu1039Pro, XP_047305097.1:p.Leu1064Pro

        4.

        rs1486574914 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:113970133 (GRCh38)
          1:114512755 (GRCh37)
          Canonical SPDI:
          NC_000001.11:113970132:C:T
          Gene:
          HIPK1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_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_000001.11:g.113970133C>T, NC_000001.10:g.114512755C>T, XM_005270610.6:c.2946C>T, XM_005270610.5:c.2946C>T, XM_005270610.4:c.3159C>T, XM_005270610.3:c.3159C>T, XM_005270610.2:c.3159C>T, XM_005270610.1:c.3159C>T, XM_005270611.6:c.2949C>T, XM_005270611.5:c.2949C>T, XM_005270611.4:c.3162C>T, XM_005270611.3:c.3162C>T, XM_005270611.2:c.3162C>T, XM_005270611.1:c.3162C>T, XM_006710443.5:c.2847C>T, XM_006710443.4:c.2847C>T, XM_006710443.3:c.3060C>T, XM_006710443.2:c.3060C>T, XM_006710443.1:c.3060C>T, XM_011540977.4:c.2829C>T, XM_011540977.3:c.2829C>T, XM_011540977.2:c.3042C>T, XM_011540977.1:c.3042C>T, NM_152696.4:c.2949C>T, NM_152696.3:c.2949C>T, NM_198268.3:c.2949C>T, NM_198268.2:c.2949C>T, NM_198269.3:c.1827C>T, NM_198269.2:c.1827C>T, NM_181358.3:c.1767C>T, NM_181358.2:c.1767C>T, XM_047449139.1:c.2949C>T, XM_047449134.1:c.2949C>T, XM_047449119.1:c.2946C>T, XM_047449128.1:c.2844C>T, NM_001369806.1:c.2949C>T, NM_001369807.1:c.2946C>T, XM_047449129.1:c.2826C>T, XM_047449130.1:c.2847C>T, XM_047449141.1:c.2847C>T, NM_001410847.1:c.2847C>T

          5.

          rs1486122382 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:113954717 (GRCh38)
            1:114497339 (GRCh37)
            Canonical SPDI:
            NC_000001.11:113954716:A:G
            Gene:
            HIPK1 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_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_000001.11:g.113954717A>G, NC_000001.10:g.114497339A>G, XM_005270610.6:c.1267A>G, XM_005270610.5:c.1267A>G, XM_005270610.4:c.1480A>G, XM_005270610.3:c.1480A>G, XM_005270610.2:c.1480A>G, XM_005270610.1:c.1480A>G, XM_005270611.6:c.1267A>G, XM_005270611.5:c.1267A>G, XM_005270611.4:c.1480A>G, XM_005270611.3:c.1480A>G, XM_005270611.2:c.1480A>G, XM_005270611.1:c.1480A>G, XM_006710443.5:c.1267A>G, XM_006710443.4:c.1267A>G, XM_006710443.3:c.1480A>G, XM_006710443.2:c.1480A>G, XM_006710443.1:c.1480A>G, NM_152696.4:c.1267A>G, NM_152696.3:c.1267A>G, NM_198268.3:c.1267A>G, NM_198268.2:c.1267A>G, NM_198269.3:c.145A>G, NM_198269.2:c.145A>G, NM_181358.3:c.85A>G, NM_181358.2:c.85A>G, XM_047449139.1:c.1267A>G, XM_047449134.1:c.1267A>G, XM_047449119.1:c.1267A>G, XM_047449128.1:c.1267A>G, NM_001369806.1:c.1267A>G, NM_001369807.1:c.1267A>G, XM_047449130.1:c.1267A>G, XM_047449141.1:c.1267A>G, NM_001410847.1:c.1267A>G, XP_005270667.2:p.Thr423Ala, XP_005270668.2:p.Thr423Ala, XP_006710506.2:p.Thr423Ala, NP_689909.2:p.Thr423Ala, NP_938009.1:p.Thr423Ala, NP_938010.1:p.Thr49Ala, NP_852003.1:p.Thr29Ala, XP_047305095.1:p.Thr423Ala, XP_047305090.1:p.Thr423Ala, XP_047305075.1:p.Thr423Ala, XP_047305084.1:p.Thr423Ala, NP_001356735.1:p.Thr423Ala, NP_001356736.1:p.Thr423Ala, XP_047305086.1:p.Thr423Ala, XP_047305097.1:p.Thr423Ala

            6.

            rs1483993400 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:113967838 (GRCh38)
              1:114510460 (GRCh37)
              Canonical SPDI:
              NC_000001.11:113967837:A:G
              Gene:
              HIPK1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.113967838A>G, NC_000001.10:g.114510460A>G, XM_005270610.6:c.2451A>G, XM_005270610.5:c.2451A>G, XM_005270610.4:c.2664A>G, XM_005270610.3:c.2664A>G, XM_005270610.2:c.2664A>G, XM_005270610.1:c.2664A>G, XM_005270611.6:c.2454A>G, XM_005270611.5:c.2454A>G, XM_005270611.4:c.2667A>G, XM_005270611.3:c.2667A>G, XM_005270611.2:c.2667A>G, XM_005270611.1:c.2667A>G, XM_006710443.5:c.2352A>G, XM_006710443.4:c.2352A>G, XM_006710443.3:c.2565A>G, XM_006710443.2:c.2565A>G, XM_006710443.1:c.2565A>G, XM_011540977.4:c.2334A>G, XM_011540977.3:c.2334A>G, XM_011540977.2:c.2547A>G, XM_011540977.1:c.2547A>G, NM_152696.4:c.2454A>G, NM_152696.3:c.2454A>G, NM_198268.3:c.2454A>G, NM_198268.2:c.2454A>G, NM_198269.3:c.1332A>G, NM_198269.2:c.1332A>G, NM_181358.3:c.1272A>G, NM_181358.2:c.1272A>G, XM_047449139.1:c.2454A>G, XM_047449134.1:c.2454A>G, XM_047449119.1:c.2451A>G, XM_047449128.1:c.2349A>G, NM_001369806.1:c.2454A>G, NM_001369807.1:c.2451A>G, XM_047449129.1:c.2331A>G, XM_047449130.1:c.2352A>G, XM_047449141.1:c.2352A>G, NM_001410847.1:c.2352A>G

              7.

              rs1483416688 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,T [Show Flanks]
                Chromosome:
                1:113966144 (GRCh38)
                1:114508766 (GRCh37)
                Canonical SPDI:
                NC_000001.11:113966143:A:C,NC_000001.11:113966143:A:T
                Gene:
                HIPK1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.113966144A>C, NC_000001.11:g.113966144A>T, NC_000001.10:g.114508766A>C, NC_000001.10:g.114508766A>T, XM_005270610.6:c.2250A>C, XM_005270610.6:c.2250A>T, XM_005270610.5:c.2250A>C, XM_005270610.5:c.2250A>T, XM_005270610.4:c.2463A>C, XM_005270610.4:c.2463A>T, XM_005270610.3:c.2463A>C, XM_005270610.3:c.2463A>T, XM_005270610.2:c.2463A>C, XM_005270610.2:c.2463A>T, XM_005270610.1:c.2463A>C, XM_005270610.1:c.2463A>T, XM_005270611.6:c.2253A>C, XM_005270611.6:c.2253A>T, XM_005270611.5:c.2253A>C, XM_005270611.5:c.2253A>T, XM_005270611.4:c.2466A>C, XM_005270611.4:c.2466A>T, XM_005270611.3:c.2466A>C, XM_005270611.3:c.2466A>T, XM_005270611.2:c.2466A>C, XM_005270611.2:c.2466A>T, XM_005270611.1:c.2466A>C, XM_005270611.1:c.2466A>T, XM_006710443.5:c.2151A>C, XM_006710443.5:c.2151A>T, XM_006710443.4:c.2151A>C, XM_006710443.4:c.2151A>T, XM_006710443.3:c.2364A>C, XM_006710443.3:c.2364A>T, XM_006710443.2:c.2364A>C, XM_006710443.2:c.2364A>T, XM_006710443.1:c.2364A>C, XM_006710443.1:c.2364A>T, XM_011540977.4:c.2133A>C, XM_011540977.4:c.2133A>T, XM_011540977.3:c.2133A>C, XM_011540977.3:c.2133A>T, XM_011540977.2:c.2346A>C, XM_011540977.2:c.2346A>T, XM_011540977.1:c.2346A>C, XM_011540977.1:c.2346A>T, NM_152696.4:c.2253A>C, NM_152696.4:c.2253A>T, NM_152696.3:c.2253A>C, NM_152696.3:c.2253A>T, NM_198268.3:c.2253A>C, NM_198268.3:c.2253A>T, NM_198268.2:c.2253A>C, NM_198268.2:c.2253A>T, NM_198269.3:c.1131A>C, NM_198269.3:c.1131A>T, NM_198269.2:c.1131A>C, NM_198269.2:c.1131A>T, NM_181358.3:c.1071A>C, NM_181358.3:c.1071A>T, NM_181358.2:c.1071A>C, NM_181358.2:c.1071A>T, XM_047449139.1:c.2253A>C, XM_047449139.1:c.2253A>T, XM_047449134.1:c.2253A>C, XM_047449134.1:c.2253A>T, XM_047449119.1:c.2250A>C, XM_047449119.1:c.2250A>T, XM_047449128.1:c.2148A>C, XM_047449128.1:c.2148A>T, NM_001369806.1:c.2253A>C, NM_001369806.1:c.2253A>T, NM_001369807.1:c.2250A>C, NM_001369807.1:c.2250A>T, XM_047449129.1:c.2130A>C, XM_047449129.1:c.2130A>T, XM_047449130.1:c.2151A>C, XM_047449130.1:c.2151A>T, XM_047449141.1:c.2151A>C, XM_047449141.1:c.2151A>T, NM_001410847.1:c.2151A>C, NM_001410847.1:c.2151A>T

                8.

                rs1482445900 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:113973324 (GRCh38)
                  1:114515946 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:113973323:C:T
                  Gene:
                  HIPK1 (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=0.000008/2 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.113973324C>T, NC_000001.10:g.114515946C>T, XM_005270610.6:c.3442C>T, XM_005270610.5:c.3442C>T, XM_005270610.4:c.3655C>T, XM_005270610.3:c.3655C>T, XM_005270610.2:c.3655C>T, XM_005270610.1:c.3655C>T, XM_005270611.6:c.3370C>T, XM_005270611.5:c.3370C>T, XM_005270611.4:c.3583C>T, XM_005270611.3:c.3583C>T, XM_005270611.2:c.3583C>T, XM_005270611.1:c.3583C>T, XM_006710443.5:c.3343C>T, XM_006710443.4:c.3343C>T, XM_006710443.3:c.3556C>T, XM_006710443.2:c.3556C>T, XM_006710443.1:c.3556C>T, XM_011540977.4:c.3325C>T, XM_011540977.3:c.3325C>T, XM_011540977.2:c.3538C>T, XM_011540977.1:c.3538C>T, NM_198268.3:c.3445C>T, NM_198268.2:c.3445C>T, NM_198269.3:c.2323C>T, NM_198269.2:c.2323C>T, NM_181358.3:c.2263C>T, NM_181358.2:c.2263C>T, XM_047449139.1:c.3445C>T, XM_047449134.1:c.3445C>T, XM_047449119.1:c.3367C>T, XM_047449128.1:c.3340C>T, NM_001369806.1:c.3445C>T, NM_001369807.1:c.3442C>T, XM_047449129.1:c.3322C>T, XM_047449130.1:c.3268C>T, XM_047449141.1:c.3343C>T, NM_001410847.1:c.3343C>T, XP_005270667.2:p.Pro1148Ser, XP_005270668.2:p.Pro1124Ser, XP_006710506.2:p.Pro1115Ser, XP_011539279.2:p.Pro1109Ser, NP_938009.1:p.Pro1149Ser, NP_938010.1:p.Pro775Ser, NP_852003.1:p.Pro755Ser, XP_047305095.1:p.Pro1149Ser, XP_047305090.1:p.Pro1149Ser, XP_047305075.1:p.Pro1123Ser, XP_047305084.1:p.Pro1114Ser, NP_001356735.1:p.Pro1149Ser, NP_001356736.1:p.Pro1148Ser, XP_047305085.1:p.Pro1108Ser, XP_047305086.1:p.Pro1090Ser, XP_047305097.1:p.Pro1115Ser

                  9.

                  rs1482212881 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:113968589 (GRCh38)
                    1:114511211 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:113968588:T:C
                    Gene:
                    HIPK1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000001.11:g.113968589T>C, NC_000001.10:g.114511211T>C, XM_005270610.6:c.2709T>C, XM_005270610.5:c.2709T>C, XM_005270610.4:c.2922T>C, XM_005270610.3:c.2922T>C, XM_005270610.2:c.2922T>C, XM_005270610.1:c.2922T>C, XM_005270611.6:c.2712T>C, XM_005270611.5:c.2712T>C, XM_005270611.4:c.2925T>C, XM_005270611.3:c.2925T>C, XM_005270611.2:c.2925T>C, XM_005270611.1:c.2925T>C, XM_006710443.5:c.2610T>C, XM_006710443.4:c.2610T>C, XM_006710443.3:c.2823T>C, XM_006710443.2:c.2823T>C, XM_006710443.1:c.2823T>C, XM_011540977.4:c.2592T>C, XM_011540977.3:c.2592T>C, XM_011540977.2:c.2805T>C, XM_011540977.1:c.2805T>C, NM_152696.4:c.2712T>C, NM_152696.3:c.2712T>C, NM_198268.3:c.2712T>C, NM_198268.2:c.2712T>C, NM_198269.3:c.1590T>C, NM_198269.2:c.1590T>C, NM_181358.3:c.1530T>C, NM_181358.2:c.1530T>C, XM_047449139.1:c.2712T>C, XM_047449134.1:c.2712T>C, XM_047449119.1:c.2709T>C, XM_047449128.1:c.2607T>C, NM_001369806.1:c.2712T>C, NM_001369807.1:c.2709T>C, XM_047449129.1:c.2589T>C, XM_047449130.1:c.2610T>C, XM_047449141.1:c.2610T>C, NM_001410847.1:c.2610T>C

                    10.

                    rs1480621607 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:113973401 (GRCh38)
                      1:114516023 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:113973400:G:A
                      Gene:
                      HIPK1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.113973401G>A, NC_000001.10:g.114516023G>A, XM_005270610.6:c.3519G>A, XM_005270610.5:c.3519G>A, XM_005270610.4:c.3732G>A, XM_005270610.3:c.3732G>A, XM_005270610.2:c.3732G>A, XM_005270610.1:c.3732G>A, XM_005270611.6:c.3447G>A, XM_005270611.5:c.3447G>A, XM_005270611.4:c.3660G>A, XM_005270611.3:c.3660G>A, XM_005270611.2:c.3660G>A, XM_005270611.1:c.3660G>A, XM_006710443.5:c.3420G>A, XM_006710443.4:c.3420G>A, XM_006710443.3:c.3633G>A, XM_006710443.2:c.3633G>A, XM_006710443.1:c.3633G>A, XM_011540977.4:c.3402G>A, XM_011540977.3:c.3402G>A, XM_011540977.2:c.3615G>A, XM_011540977.1:c.3615G>A, NM_198268.3:c.3522G>A, NM_198268.2:c.3522G>A, NM_198269.3:c.2400G>A, NM_198269.2:c.2400G>A, NM_181358.3:c.2340G>A, NM_181358.2:c.2340G>A, XM_047449139.1:c.3522G>A, XM_047449134.1:c.3522G>A, XM_047449119.1:c.3444G>A, XM_047449128.1:c.3417G>A, NM_001369806.1:c.3522G>A, NM_001369807.1:c.3519G>A, XM_047449129.1:c.3399G>A, XM_047449130.1:c.3345G>A, XM_047449141.1:c.3420G>A, NM_001410847.1:c.3420G>A

                      11.

                      rs1478618600 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:113956745 (GRCh38)
                        1:114499367 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:113956744:C:T
                        Gene:
                        HIPK1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000001.11:g.113956745C>T, NC_000001.10:g.114499367C>T, XM_005270610.6:c.1526C>T, XM_005270610.5:c.1526C>T, XM_005270610.4:c.1739C>T, XM_005270610.3:c.1739C>T, XM_005270610.2:c.1739C>T, XM_005270610.1:c.1739C>T, XM_005270611.6:c.1526C>T, XM_005270611.5:c.1526C>T, XM_005270611.4:c.1739C>T, XM_005270611.3:c.1739C>T, XM_005270611.2:c.1739C>T, XM_005270611.1:c.1739C>T, XM_006710443.5:c.1526C>T, XM_006710443.4:c.1526C>T, XM_006710443.3:c.1739C>T, XM_006710443.2:c.1739C>T, XM_006710443.1:c.1739C>T, XM_011540977.4:c.1406C>T, XM_011540977.3:c.1406C>T, XM_011540977.2:c.1619C>T, XM_011540977.1:c.1619C>T, NM_152696.4:c.1526C>T, NM_152696.3:c.1526C>T, NM_198268.3:c.1526C>T, NM_198268.2:c.1526C>T, NM_198269.3:c.404C>T, NM_198269.2:c.404C>T, NM_181358.3:c.344C>T, NM_181358.2:c.344C>T, XM_047449139.1:c.1526C>T, XM_047449134.1:c.1526C>T, XM_047449119.1:c.1526C>T, XM_047449128.1:c.1526C>T, NM_001369806.1:c.1526C>T, NM_001369807.1:c.1526C>T, XM_047449129.1:c.1406C>T, XM_047449130.1:c.1526C>T, XM_047449141.1:c.1526C>T, NM_001410847.1:c.1526C>T, XP_005270667.2:p.Pro509Leu, XP_005270668.2:p.Pro509Leu, XP_006710506.2:p.Pro509Leu, XP_011539279.2:p.Pro469Leu, NP_689909.2:p.Pro509Leu, NP_938009.1:p.Pro509Leu, NP_938010.1:p.Pro135Leu, NP_852003.1:p.Pro115Leu, XP_047305095.1:p.Pro509Leu, XP_047305090.1:p.Pro509Leu, XP_047305075.1:p.Pro509Leu, XP_047305084.1:p.Pro509Leu, NP_001356735.1:p.Pro509Leu, NP_001356736.1:p.Pro509Leu, XP_047305085.1:p.Pro469Leu, XP_047305086.1:p.Pro509Leu, XP_047305097.1:p.Pro509Leu

                        12.

                        rs1478468413 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:113973175 (GRCh38)
                          1:114515797 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:113973174:C:T
                          Gene:
                          HIPK1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.113973175C>T, NC_000001.10:g.114515797C>T, XM_005270610.6:c.3293C>T, XM_005270610.5:c.3293C>T, XM_005270610.4:c.3506C>T, XM_005270610.3:c.3506C>T, XM_005270610.2:c.3506C>T, XM_005270610.1:c.3506C>T, XM_005270611.6:c.3221C>T, XM_005270611.5:c.3221C>T, XM_005270611.4:c.3434C>T, XM_005270611.3:c.3434C>T, XM_005270611.2:c.3434C>T, XM_005270611.1:c.3434C>T, XM_006710443.5:c.3194C>T, XM_006710443.4:c.3194C>T, XM_006710443.3:c.3407C>T, XM_006710443.2:c.3407C>T, XM_006710443.1:c.3407C>T, XM_011540977.4:c.3176C>T, XM_011540977.3:c.3176C>T, XM_011540977.2:c.3389C>T, XM_011540977.1:c.3389C>T, NM_198268.3:c.3296C>T, NM_198268.2:c.3296C>T, NM_198269.3:c.2174C>T, NM_198269.2:c.2174C>T, NM_181358.3:c.2114C>T, NM_181358.2:c.2114C>T, XM_047449139.1:c.3296C>T, XM_047449134.1:c.3296C>T, XM_047449119.1:c.3218C>T, XM_047449128.1:c.3191C>T, NM_001369806.1:c.3296C>T, NM_001369807.1:c.3293C>T, XM_047449129.1:c.3173C>T, XM_047449130.1:c.3119C>T, XM_047449141.1:c.3194C>T, NM_001410847.1:c.3194C>T, XP_005270667.2:p.Ala1098Val, XP_005270668.2:p.Ala1074Val, XP_006710506.2:p.Ala1065Val, XP_011539279.2:p.Ala1059Val, NP_938009.1:p.Ala1099Val, NP_938010.1:p.Ala725Val, NP_852003.1:p.Ala705Val, XP_047305095.1:p.Ala1099Val, XP_047305090.1:p.Ala1099Val, XP_047305075.1:p.Ala1073Val, XP_047305084.1:p.Ala1064Val, NP_001356735.1:p.Ala1099Val, NP_001356736.1:p.Ala1098Val, XP_047305085.1:p.Ala1058Val, XP_047305086.1:p.Ala1040Val, XP_047305097.1:p.Ala1065Val

                          13.

                          rs1474429308 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:113968484 (GRCh38)
                            1:114511106 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:113968483:T:C
                            Gene:
                            HIPK1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.113968484T>C, NC_000001.10:g.114511106T>C, XM_005270610.6:c.2604T>C, XM_005270610.5:c.2604T>C, XM_005270610.4:c.2817T>C, XM_005270610.3:c.2817T>C, XM_005270610.2:c.2817T>C, XM_005270610.1:c.2817T>C, XM_005270611.6:c.2607T>C, XM_005270611.5:c.2607T>C, XM_005270611.4:c.2820T>C, XM_005270611.3:c.2820T>C, XM_005270611.2:c.2820T>C, XM_005270611.1:c.2820T>C, XM_006710443.5:c.2505T>C, XM_006710443.4:c.2505T>C, XM_006710443.3:c.2718T>C, XM_006710443.2:c.2718T>C, XM_006710443.1:c.2718T>C, XM_011540977.4:c.2487T>C, XM_011540977.3:c.2487T>C, XM_011540977.2:c.2700T>C, XM_011540977.1:c.2700T>C, NM_152696.4:c.2607T>C, NM_152696.3:c.2607T>C, NM_198268.3:c.2607T>C, NM_198268.2:c.2607T>C, NM_198269.3:c.1485T>C, NM_198269.2:c.1485T>C, NM_181358.3:c.1425T>C, NM_181358.2:c.1425T>C, XM_047449139.1:c.2607T>C, XM_047449134.1:c.2607T>C, XM_047449119.1:c.2604T>C, XM_047449128.1:c.2502T>C, NM_001369806.1:c.2607T>C, NM_001369807.1:c.2604T>C, XM_047449129.1:c.2484T>C, XM_047449130.1:c.2505T>C, XM_047449141.1:c.2505T>C, NM_001410847.1:c.2505T>C

                            14.

                            rs1468169688 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:113962355 (GRCh38)
                              1:114504977 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:113962354:G:A
                              Gene:
                              HIPK1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.113962355G>A, NC_000001.10:g.114504977G>A, XM_005270610.6:c.2020G>A, XM_005270610.5:c.2020G>A, XM_005270610.4:c.2233G>A, XM_005270610.3:c.2233G>A, XM_005270610.2:c.2233G>A, XM_005270610.1:c.2233G>A, XM_005270611.6:c.2020G>A, XM_005270611.5:c.2020G>A, XM_005270611.4:c.2233G>A, XM_005270611.3:c.2233G>A, XM_005270611.2:c.2233G>A, XM_005270611.1:c.2233G>A, XM_006710443.5:c.1918G>A, XM_006710443.4:c.1918G>A, XM_006710443.3:c.2131G>A, XM_006710443.2:c.2131G>A, XM_006710443.1:c.2131G>A, XM_011540977.4:c.1900G>A, XM_011540977.3:c.1900G>A, XM_011540977.2:c.2113G>A, XM_011540977.1:c.2113G>A, NM_152696.4:c.2020G>A, NM_152696.3:c.2020G>A, NM_198268.3:c.2020G>A, NM_198268.2:c.2020G>A, NM_198269.3:c.898G>A, NM_198269.2:c.898G>A, NM_181358.3:c.838G>A, NM_181358.2:c.838G>A, XM_047449139.1:c.2020G>A, XM_047449134.1:c.2020G>A, XM_047449119.1:c.2020G>A, XM_047449128.1:c.1918G>A, NM_001369806.1:c.2020G>A, NM_001369807.1:c.2020G>A, XM_047449129.1:c.1900G>A, XM_047449130.1:c.1918G>A, XM_047449141.1:c.1918G>A, NM_001410847.1:c.1918G>A, XP_005270667.2:p.Val674Met, XP_005270668.2:p.Val674Met, XP_006710506.2:p.Val640Met, XP_011539279.2:p.Val634Met, NP_689909.2:p.Val674Met, NP_938009.1:p.Val674Met, NP_938010.1:p.Val300Met, NP_852003.1:p.Val280Met, XP_047305095.1:p.Val674Met, XP_047305090.1:p.Val674Met, XP_047305075.1:p.Val674Met, XP_047305084.1:p.Val640Met, NP_001356735.1:p.Val674Met, NP_001356736.1:p.Val674Met, XP_047305085.1:p.Val634Met, XP_047305086.1:p.Val640Met, XP_047305097.1:p.Val640Met

                              15.

                              rs1468086674 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                1:113973076 (GRCh38)
                                1:114515698 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:113973075:C:A,NC_000001.11:113973075:C:G,NC_000001.11:113973075:C:T
                                Gene:
                                HIPK1 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000005/1 (GnomAD_exomes)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.113973076C>A, NC_000001.11:g.113973076C>G, NC_000001.11:g.113973076C>T, NC_000001.10:g.114515698C>A, NC_000001.10:g.114515698C>G, NC_000001.10:g.114515698C>T, XM_005270610.6:c.3194C>A, XM_005270610.6:c.3194C>G, XM_005270610.6:c.3194C>T, XM_005270610.5:c.3194C>A, XM_005270610.5:c.3194C>G, XM_005270610.5:c.3194C>T, XM_005270610.4:c.3407C>A, XM_005270610.4:c.3407C>G, XM_005270610.4:c.3407C>T, XM_005270610.3:c.3407C>A, XM_005270610.3:c.3407C>G, XM_005270610.3:c.3407C>T, XM_005270610.2:c.3407C>A, XM_005270610.2:c.3407C>G, XM_005270610.2:c.3407C>T, XM_005270610.1:c.3407C>A, XM_005270610.1:c.3407C>G, XM_005270610.1:c.3407C>T, XM_005270611.6:c.3122C>A, XM_005270611.6:c.3122C>G, XM_005270611.6:c.3122C>T, XM_005270611.5:c.3122C>A, XM_005270611.5:c.3122C>G, XM_005270611.5:c.3122C>T, XM_005270611.4:c.3335C>A, XM_005270611.4:c.3335C>G, XM_005270611.4:c.3335C>T, XM_005270611.3:c.3335C>A, XM_005270611.3:c.3335C>G, XM_005270611.3:c.3335C>T, XM_005270611.2:c.3335C>A, XM_005270611.2:c.3335C>G, XM_005270611.2:c.3335C>T, XM_005270611.1:c.3335C>A, XM_005270611.1:c.3335C>G, XM_005270611.1:c.3335C>T, XM_006710443.5:c.3095C>A, XM_006710443.5:c.3095C>G, XM_006710443.5:c.3095C>T, XM_006710443.4:c.3095C>A, XM_006710443.4:c.3095C>G, XM_006710443.4:c.3095C>T, XM_006710443.3:c.3308C>A, XM_006710443.3:c.3308C>G, XM_006710443.3:c.3308C>T, XM_006710443.2:c.3308C>A, XM_006710443.2:c.3308C>G, XM_006710443.2:c.3308C>T, XM_006710443.1:c.3308C>A, XM_006710443.1:c.3308C>G, XM_006710443.1:c.3308C>T, XM_011540977.4:c.3077C>A, XM_011540977.4:c.3077C>G, XM_011540977.4:c.3077C>T, XM_011540977.3:c.3077C>A, XM_011540977.3:c.3077C>G, XM_011540977.3:c.3077C>T, XM_011540977.2:c.3290C>A, XM_011540977.2:c.3290C>G, XM_011540977.2:c.3290C>T, XM_011540977.1:c.3290C>A, XM_011540977.1:c.3290C>G, XM_011540977.1:c.3290C>T, NM_198268.3:c.3197C>A, NM_198268.3:c.3197C>G, NM_198268.3:c.3197C>T, NM_198268.2:c.3197C>A, NM_198268.2:c.3197C>G, NM_198268.2:c.3197C>T, NM_198269.3:c.2075C>A, NM_198269.3:c.2075C>G, NM_198269.3:c.2075C>T, NM_198269.2:c.2075C>A, NM_198269.2:c.2075C>G, NM_198269.2:c.2075C>T, NM_181358.3:c.2015C>A, NM_181358.3:c.2015C>G, NM_181358.3:c.2015C>T, NM_181358.2:c.2015C>A, NM_181358.2:c.2015C>G, NM_181358.2:c.2015C>T, XM_047449139.1:c.3197C>A, XM_047449139.1:c.3197C>G, XM_047449139.1:c.3197C>T, XM_047449134.1:c.3197C>A, XM_047449134.1:c.3197C>G, XM_047449134.1:c.3197C>T, XM_047449119.1:c.3119C>A, XM_047449119.1:c.3119C>G, XM_047449119.1:c.3119C>T, XM_047449128.1:c.3092C>A, XM_047449128.1:c.3092C>G, XM_047449128.1:c.3092C>T, NM_001369806.1:c.3197C>A, NM_001369806.1:c.3197C>G, NM_001369806.1:c.3197C>T, NM_001369807.1:c.3194C>A, NM_001369807.1:c.3194C>G, NM_001369807.1:c.3194C>T, XM_047449129.1:c.3074C>A, XM_047449129.1:c.3074C>G, XM_047449129.1:c.3074C>T, XM_047449130.1:c.3020C>A, XM_047449130.1:c.3020C>G, XM_047449130.1:c.3020C>T, XM_047449141.1:c.3095C>A, XM_047449141.1:c.3095C>G, XM_047449141.1:c.3095C>T, NM_001410847.1:c.3095C>A, NM_001410847.1:c.3095C>G, NM_001410847.1:c.3095C>T, XP_005270667.2:p.Ala1065Asp, XP_005270667.2:p.Ala1065Gly, XP_005270667.2:p.Ala1065Val, XP_005270668.2:p.Ala1041Asp, XP_005270668.2:p.Ala1041Gly, XP_005270668.2:p.Ala1041Val, XP_006710506.2:p.Ala1032Asp, XP_006710506.2:p.Ala1032Gly, XP_006710506.2:p.Ala1032Val, XP_011539279.2:p.Ala1026Asp, XP_011539279.2:p.Ala1026Gly, XP_011539279.2:p.Ala1026Val, NP_938009.1:p.Ala1066Asp, NP_938009.1:p.Ala1066Gly, NP_938009.1:p.Ala1066Val, NP_938010.1:p.Ala692Asp, NP_938010.1:p.Ala692Gly, NP_938010.1:p.Ala692Val, NP_852003.1:p.Ala672Asp, NP_852003.1:p.Ala672Gly, NP_852003.1:p.Ala672Val, XP_047305095.1:p.Ala1066Asp, XP_047305095.1:p.Ala1066Gly, XP_047305095.1:p.Ala1066Val, XP_047305090.1:p.Ala1066Asp, XP_047305090.1:p.Ala1066Gly, XP_047305090.1:p.Ala1066Val, XP_047305075.1:p.Ala1040Asp, XP_047305075.1:p.Ala1040Gly, XP_047305075.1:p.Ala1040Val, XP_047305084.1:p.Ala1031Asp, XP_047305084.1:p.Ala1031Gly, XP_047305084.1:p.Ala1031Val, NP_001356735.1:p.Ala1066Asp, NP_001356735.1:p.Ala1066Gly, NP_001356735.1:p.Ala1066Val, NP_001356736.1:p.Ala1065Asp, NP_001356736.1:p.Ala1065Gly, NP_001356736.1:p.Ala1065Val, XP_047305085.1:p.Ala1025Asp, XP_047305085.1:p.Ala1025Gly, XP_047305085.1:p.Ala1025Val, XP_047305086.1:p.Ala1007Asp, XP_047305086.1:p.Ala1007Gly, XP_047305086.1:p.Ala1007Val, XP_047305097.1:p.Ala1032Asp, XP_047305097.1:p.Ala1032Gly, XP_047305097.1:p.Ala1032Val

                                16.

                                rs1466897319 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GATACT [Show Flanks]
                                  Chromosome:
                                  1:113970064 (GRCh38)
                                  1:114512687 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:113970064:CT:CTGATACT
                                  Gene:
                                  HIPK1 (Varview)
                                  Functional Consequence:
                                  inframe_insertion,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  CTGATA=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.113970066_113970067insGATACT, NC_000001.10:g.114512688_114512689insGATACT, XM_005270610.6:c.2879_2880insGATACT, XM_005270610.5:c.2879_2880insGATACT, XM_005270610.4:c.3092_3093insGATACT, XM_005270610.3:c.3092_3093insGATACT, XM_005270610.2:c.3092_3093insGATACT, XM_005270610.1:c.3092_3093insGATACT, XM_005270611.6:c.2882_2883insGATACT, XM_005270611.5:c.2882_2883insGATACT, XM_005270611.4:c.3095_3096insGATACT, XM_005270611.3:c.3095_3096insGATACT, XM_005270611.2:c.3095_3096insGATACT, XM_005270611.1:c.3095_3096insGATACT, XM_006710443.5:c.2780_2781insGATACT, XM_006710443.4:c.2780_2781insGATACT, XM_006710443.3:c.2993_2994insGATACT, XM_006710443.2:c.2993_2994insGATACT, XM_006710443.1:c.2993_2994insGATACT, XM_011540977.4:c.2762_2763insGATACT, XM_011540977.3:c.2762_2763insGATACT, XM_011540977.2:c.2975_2976insGATACT, XM_011540977.1:c.2975_2976insGATACT, NM_152696.4:c.2882_2883insGATACT, NM_152696.3:c.2882_2883insGATACT, NM_198268.3:c.2882_2883insGATACT, NM_198268.2:c.2882_2883insGATACT, NM_198269.3:c.1760_1761insGATACT, NM_198269.2:c.1760_1761insGATACT, NM_181358.3:c.1700_1701insGATACT, NM_181358.2:c.1700_1701insGATACT, XM_047449139.1:c.2882_2883insGATACT, XM_047449134.1:c.2882_2883insGATACT, XM_047449119.1:c.2879_2880insGATACT, XM_047449128.1:c.2777_2778insGATACT, NM_001369806.1:c.2882_2883insGATACT, NM_001369807.1:c.2879_2880insGATACT, XM_047449129.1:c.2759_2760insGATACT, XM_047449130.1:c.2780_2781insGATACT, XM_047449141.1:c.2780_2781insGATACT, NM_001410847.1:c.2780_2781insGATACT, XP_005270667.2:p.Arg961_Gly962insIleLeu, XP_005270668.2:p.Arg962_Gly963insIleLeu, XP_006710506.2:p.Arg928_Gly929insIleLeu, XP_011539279.2:p.Arg922_Gly923insIleLeu, NP_689909.2:p.Arg962_Gly963insIleLeu, NP_938009.1:p.Arg962_Gly963insIleLeu, NP_938010.1:p.Arg588_Gly589insIleLeu, NP_852003.1:p.Arg568_Gly569insIleLeu, XP_047305095.1:p.Arg962_Gly963insIleLeu, XP_047305090.1:p.Arg962_Gly963insIleLeu, XP_047305075.1:p.Arg961_Gly962insIleLeu, XP_047305084.1:p.Arg927_Gly928insIleLeu, NP_001356735.1:p.Arg962_Gly963insIleLeu, NP_001356736.1:p.Arg961_Gly962insIleLeu, XP_047305085.1:p.Arg921_Gly922insIleLeu, XP_047305086.1:p.Arg928_Gly929insIleLeu, XP_047305097.1:p.Arg928_Gly929insIleLeu

                                  17.

                                  rs1466571093 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:113973122 (GRCh38)
                                    1:114515744 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:113973121:C:T
                                    Gene:
                                    HIPK1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.113973122C>T, NC_000001.10:g.114515744C>T, XM_005270610.6:c.3240C>T, XM_005270610.5:c.3240C>T, XM_005270610.4:c.3453C>T, XM_005270610.3:c.3453C>T, XM_005270610.2:c.3453C>T, XM_005270610.1:c.3453C>T, XM_005270611.6:c.3168C>T, XM_005270611.5:c.3168C>T, XM_005270611.4:c.3381C>T, XM_005270611.3:c.3381C>T, XM_005270611.2:c.3381C>T, XM_005270611.1:c.3381C>T, XM_006710443.5:c.3141C>T, XM_006710443.4:c.3141C>T, XM_006710443.3:c.3354C>T, XM_006710443.2:c.3354C>T, XM_006710443.1:c.3354C>T, XM_011540977.4:c.3123C>T, XM_011540977.3:c.3123C>T, XM_011540977.2:c.3336C>T, XM_011540977.1:c.3336C>T, NM_198268.3:c.3243C>T, NM_198268.2:c.3243C>T, NM_198269.3:c.2121C>T, NM_198269.2:c.2121C>T, NM_181358.3:c.2061C>T, NM_181358.2:c.2061C>T, XM_047449139.1:c.3243C>T, XM_047449134.1:c.3243C>T, XM_047449119.1:c.3165C>T, XM_047449128.1:c.3138C>T, NM_001369806.1:c.3243C>T, NM_001369807.1:c.3240C>T, XM_047449129.1:c.3120C>T, XM_047449130.1:c.3066C>T, XM_047449141.1:c.3141C>T, NM_001410847.1:c.3141C>T

                                    18.

                                    rs1466546560 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:113958113 (GRCh38)
                                      1:114500735 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:113958112:T:C
                                      Gene:
                                      HIPK1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.113958113T>C, NC_000001.10:g.114500735T>C, XM_005270610.6:c.1803T>C, XM_005270610.5:c.1803T>C, XM_005270610.4:c.2016T>C, XM_005270610.3:c.2016T>C, XM_005270610.2:c.2016T>C, XM_005270610.1:c.2016T>C, XM_005270611.6:c.1803T>C, XM_005270611.5:c.1803T>C, XM_005270611.4:c.2016T>C, XM_005270611.3:c.2016T>C, XM_005270611.2:c.2016T>C, XM_005270611.1:c.2016T>C, XM_006710443.5:c.1701T>C, XM_006710443.4:c.1701T>C, XM_006710443.3:c.1914T>C, XM_006710443.2:c.1914T>C, XM_006710443.1:c.1914T>C, XM_011540977.4:c.1683T>C, XM_011540977.3:c.1683T>C, XM_011540977.2:c.1896T>C, XM_011540977.1:c.1896T>C, NM_152696.4:c.1803T>C, NM_152696.3:c.1803T>C, NM_198268.3:c.1803T>C, NM_198268.2:c.1803T>C, NM_198269.3:c.681T>C, NM_198269.2:c.681T>C, NM_181358.3:c.621T>C, NM_181358.2:c.621T>C, XM_047449139.1:c.1803T>C, XM_047449134.1:c.1803T>C, XM_047449119.1:c.1803T>C, XM_047449128.1:c.1701T>C, NM_001369806.1:c.1803T>C, NM_001369807.1:c.1803T>C, XM_047449129.1:c.1683T>C, XM_047449130.1:c.1701T>C, XM_047449141.1:c.1701T>C, NM_001410847.1:c.1701T>C

                                      19.

                                      rs1465364354 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        1:113973127 (GRCh38)
                                        1:114515749 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:113973126:C:A
                                        Gene:
                                        HIPK1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.113973127C>A, NC_000001.10:g.114515749C>A, XM_005270610.6:c.3245C>A, XM_005270610.5:c.3245C>A, XM_005270610.4:c.3458C>A, XM_005270610.3:c.3458C>A, XM_005270610.2:c.3458C>A, XM_005270610.1:c.3458C>A, XM_005270611.6:c.3173C>A, XM_005270611.5:c.3173C>A, XM_005270611.4:c.3386C>A, XM_005270611.3:c.3386C>A, XM_005270611.2:c.3386C>A, XM_005270611.1:c.3386C>A, XM_006710443.5:c.3146C>A, XM_006710443.4:c.3146C>A, XM_006710443.3:c.3359C>A, XM_006710443.2:c.3359C>A, XM_006710443.1:c.3359C>A, XM_011540977.4:c.3128C>A, XM_011540977.3:c.3128C>A, XM_011540977.2:c.3341C>A, XM_011540977.1:c.3341C>A, NM_198268.3:c.3248C>A, NM_198268.2:c.3248C>A, NM_198269.3:c.2126C>A, NM_198269.2:c.2126C>A, NM_181358.3:c.2066C>A, NM_181358.2:c.2066C>A, XM_047449139.1:c.3248C>A, XM_047449134.1:c.3248C>A, XM_047449119.1:c.3170C>A, XM_047449128.1:c.3143C>A, NM_001369806.1:c.3248C>A, NM_001369807.1:c.3245C>A, XM_047449129.1:c.3125C>A, XM_047449130.1:c.3071C>A, XM_047449141.1:c.3146C>A, NM_001410847.1:c.3146C>A, XP_005270667.2:p.Thr1082Asn, XP_005270668.2:p.Thr1058Asn, XP_006710506.2:p.Thr1049Asn, XP_011539279.2:p.Thr1043Asn, NP_938009.1:p.Thr1083Asn, NP_938010.1:p.Thr709Asn, NP_852003.1:p.Thr689Asn, XP_047305095.1:p.Thr1083Asn, XP_047305090.1:p.Thr1083Asn, XP_047305075.1:p.Thr1057Asn, XP_047305084.1:p.Thr1048Asn, NP_001356735.1:p.Thr1083Asn, NP_001356736.1:p.Thr1082Asn, XP_047305085.1:p.Thr1042Asn, XP_047305086.1:p.Thr1024Asn, XP_047305097.1:p.Thr1049Asn

                                        20.

                                        rs1464332943 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          1:113958238 (GRCh38)
                                          1:114500860 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:113958237:C:G,NC_000001.11:113958237:C:T
                                          Gene:
                                          HIPK1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000001.11:g.113958238C>G, NC_000001.11:g.113958238C>T, NC_000001.10:g.114500860C>G, NC_000001.10:g.114500860C>T, XM_005270610.6:c.1928C>G, XM_005270610.6:c.1928C>T, XM_005270610.5:c.1928C>G, XM_005270610.5:c.1928C>T, XM_005270610.4:c.2141C>G, XM_005270610.4:c.2141C>T, XM_005270610.3:c.2141C>G, XM_005270610.3:c.2141C>T, XM_005270610.2:c.2141C>G, XM_005270610.2:c.2141C>T, XM_005270610.1:c.2141C>G, XM_005270610.1:c.2141C>T, XM_005270611.6:c.1928C>G, XM_005270611.6:c.1928C>T, XM_005270611.5:c.1928C>G, XM_005270611.5:c.1928C>T, XM_005270611.4:c.2141C>G, XM_005270611.4:c.2141C>T, XM_005270611.3:c.2141C>G, XM_005270611.3:c.2141C>T, XM_005270611.2:c.2141C>G, XM_005270611.2:c.2141C>T, XM_005270611.1:c.2141C>G, XM_005270611.1:c.2141C>T, XM_006710443.5:c.1826C>G, XM_006710443.5:c.1826C>T, XM_006710443.4:c.1826C>G, XM_006710443.4:c.1826C>T, XM_006710443.3:c.2039C>G, XM_006710443.3:c.2039C>T, XM_006710443.2:c.2039C>G, XM_006710443.2:c.2039C>T, XM_006710443.1:c.2039C>G, XM_006710443.1:c.2039C>T, XM_011540977.4:c.1808C>G, XM_011540977.4:c.1808C>T, XM_011540977.3:c.1808C>G, XM_011540977.3:c.1808C>T, XM_011540977.2:c.2021C>G, XM_011540977.2:c.2021C>T, XM_011540977.1:c.2021C>G, XM_011540977.1:c.2021C>T, NM_152696.4:c.1928C>G, NM_152696.4:c.1928C>T, NM_152696.3:c.1928C>G, NM_152696.3:c.1928C>T, NM_198268.3:c.1928C>G, NM_198268.3:c.1928C>T, NM_198268.2:c.1928C>G, NM_198268.2:c.1928C>T, NM_198269.3:c.806C>G, NM_198269.3:c.806C>T, NM_198269.2:c.806C>G, NM_198269.2:c.806C>T, NM_181358.3:c.746C>G, NM_181358.3:c.746C>T, NM_181358.2:c.746C>G, NM_181358.2:c.746C>T, XM_047449139.1:c.1928C>G, XM_047449139.1:c.1928C>T, XM_047449134.1:c.1928C>G, XM_047449134.1:c.1928C>T, XM_047449119.1:c.1928C>G, XM_047449119.1:c.1928C>T, XM_047449128.1:c.1826C>G, XM_047449128.1:c.1826C>T, NM_001369806.1:c.1928C>G, NM_001369806.1:c.1928C>T, NM_001369807.1:c.1928C>G, NM_001369807.1:c.1928C>T, XM_047449129.1:c.1808C>G, XM_047449129.1:c.1808C>T, XM_047449130.1:c.1826C>G, XM_047449130.1:c.1826C>T, XM_047449141.1:c.1826C>G, XM_047449141.1:c.1826C>T, NM_001410847.1:c.1826C>G, NM_001410847.1:c.1826C>T, XP_005270667.2:p.Thr643Ser, XP_005270667.2:p.Thr643Ile, XP_005270668.2:p.Thr643Ser, XP_005270668.2:p.Thr643Ile, XP_006710506.2:p.Thr609Ser, XP_006710506.2:p.Thr609Ile, XP_011539279.2:p.Thr603Ser, XP_011539279.2:p.Thr603Ile, NP_689909.2:p.Thr643Ser, NP_689909.2:p.Thr643Ile, NP_938009.1:p.Thr643Ser, NP_938009.1:p.Thr643Ile, NP_938010.1:p.Thr269Ser, NP_938010.1:p.Thr269Ile, NP_852003.1:p.Thr249Ser, NP_852003.1:p.Thr249Ile, XP_047305095.1:p.Thr643Ser, XP_047305095.1:p.Thr643Ile, XP_047305090.1:p.Thr643Ser, XP_047305090.1:p.Thr643Ile, XP_047305075.1:p.Thr643Ser, XP_047305075.1:p.Thr643Ile, XP_047305084.1:p.Thr609Ser, XP_047305084.1:p.Thr609Ile, NP_001356735.1:p.Thr643Ser, NP_001356735.1:p.Thr643Ile, NP_001356736.1:p.Thr643Ser, NP_001356736.1:p.Thr643Ile, XP_047305085.1:p.Thr603Ser, XP_047305085.1:p.Thr603Ile, XP_047305086.1:p.Thr609Ser, XP_047305086.1:p.Thr609Ile, XP_047305097.1:p.Thr609Ser, XP_047305097.1:p.Thr609Ile

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