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Items: 1 to 20 of 456

1.

rs1489963396 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    3:183651101 (GRCh38)
    3:183368889 (GRCh37)
    Canonical SPDI:
    NC_000003.12:183651100:C:A
    Gene:
    KLHL24 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000068/3 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000003.12:g.183651101C>A, NC_000003.11:g.183368889C>A, XM_005247552.3:c.745C>A, XM_005247552.2:c.745C>A, XM_005247552.1:c.745C>A, NM_017644.3:c.745C>A, XM_017006655.2:c.745C>A, XM_017006655.1:c.745C>A, XM_017006653.2:c.745C>A, XM_017006653.1:c.745C>A, XM_017006658.2:c.745C>A, XM_017006658.1:c.745C>A, NM_001349419.1:c.745C>A, XM_047448371.1:c.745C>A, XM_047448372.1:c.745C>A, XM_047448374.1:c.745C>A, NM_001349427.1:c.745C>A, NM_001349418.1:c.745C>A, NM_001349428.1:c.-222C>A, NM_001349417.1:c.745C>A, NM_001349429.1:c.-222C>A, NM_001349413.1:c.745C>A, NM_001349414.1:c.745C>A, NM_001349420.1:c.745C>A, NM_001349416.1:c.745C>A, NM_001349424.1:c.745C>A, NM_001349415.1:c.745C>A, XM_047448373.1:c.745C>A, NM_001349422.1:c.745C>A, NM_001349425.1:c.745C>A, NM_001349423.1:c.745C>A, NM_001349421.1:c.745C>A, NM_001349426.1:c.745C>A, NR_146170.1:n.1040C>A, NR_146169.1:n.977C>A, XM_047448375.1:c.745C>A, XP_005247609.1:p.His249Asn, NP_060114.2:p.His249Asn, XP_016862144.1:p.His249Asn, XP_016862142.1:p.His249Asn, XP_016862147.1:p.His249Asn, NP_001336348.1:p.His249Asn, XP_047304327.1:p.His249Asn, XP_047304328.1:p.His249Asn, XP_047304330.1:p.His249Asn, NP_001336347.1:p.His249Asn, NP_001336346.1:p.His249Asn, NP_001336342.1:p.His249Asn, NP_001336343.1:p.His249Asn, NP_001336349.1:p.His249Asn, NP_001336345.1:p.His249Asn, NP_001336353.1:p.His249Asn, NP_001336344.1:p.His249Asn, XP_047304329.1:p.His249Asn, NP_001336351.1:p.His249Asn, NP_001336354.1:p.His249Asn, NP_001336352.1:p.His249Asn, NP_001336350.1:p.His249Asn, NP_001336355.1:p.His249Asn, XP_047304331.1:p.His249Asn

    2.

    rs1488114447 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:183650386 (GRCh38)
      3:183368174 (GRCh37)
      Canonical SPDI:
      NC_000003.12:183650385:C:T
      Gene:
      KLHL24 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.183650386C>T, NC_000003.11:g.183368174C>T, XM_005247552.3:c.30C>T, XM_005247552.2:c.30C>T, XM_005247552.1:c.30C>T, NM_017644.3:c.30C>T, XM_017006655.2:c.30C>T, XM_017006655.1:c.30C>T, XM_017006653.2:c.30C>T, XM_017006653.1:c.30C>T, XM_017006658.2:c.30C>T, XM_017006658.1:c.30C>T, NM_001349419.1:c.30C>T, XM_047448371.1:c.30C>T, XM_047448372.1:c.30C>T, XM_047448374.1:c.30C>T, NM_001349427.1:c.30C>T, NM_001349418.1:c.30C>T, NM_001349428.1:c.-937C>T, NM_001349417.1:c.30C>T, NM_001349429.1:c.-937C>T, NM_001349413.1:c.30C>T, NM_001349414.1:c.30C>T, NM_001349420.1:c.30C>T, NM_001349416.1:c.30C>T, NM_001349424.1:c.30C>T, NM_001349415.1:c.30C>T, XM_047448373.1:c.30C>T, NM_001349422.1:c.30C>T, NM_001349425.1:c.30C>T, NM_001349423.1:c.30C>T, NM_001349421.1:c.30C>T, NM_001349426.1:c.30C>T, NR_146170.1:n.325C>T, NR_146169.1:n.262C>T, XM_047448375.1:c.30C>T

      3.

      rs1486934151 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:183665033 (GRCh38)
        3:183382821 (GRCh37)
        Canonical SPDI:
        NC_000003.12:183665032:T:C
        Gene:
        KLHL24 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.183665033T>C, NC_000003.11:g.183382821T>C, XM_005247552.3:c.1218T>C, XM_005247552.2:c.1218T>C, XM_005247552.1:c.1218T>C, NM_017644.3:c.1218T>C, XM_017006655.2:c.1218T>C, XM_017006655.1:c.1218T>C, XM_017006653.2:c.1218T>C, XM_017006653.1:c.1218T>C, XM_017006658.2:c.1218T>C, XM_017006658.1:c.1218T>C, NM_001349419.1:c.1218T>C, XM_047448371.1:c.1218T>C, XM_047448372.1:c.1218T>C, XM_047448374.1:c.1218T>C, NM_001349427.1:c.1218T>C, NM_001349418.1:c.1218T>C, NM_001349428.1:c.375T>C, NM_001349417.1:c.1218T>C, NM_001349429.1:c.375T>C, NM_001349413.1:c.1218T>C, NM_001349414.1:c.1218T>C, NM_001349420.1:c.1218T>C, NM_001349416.1:c.1218T>C, NM_001349424.1:c.1218T>C, NM_001349415.1:c.1218T>C, XM_047448373.1:c.1218T>C, NM_001349422.1:c.1218T>C, NM_001349425.1:c.1218T>C, NM_001349423.1:c.1218T>C, NM_001349421.1:c.1218T>C, NM_001349426.1:c.1218T>C

        4.

        rs1486882431 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:183650725 (GRCh38)
          3:183368513 (GRCh37)
          Canonical SPDI:
          NC_000003.12:183650724:T:C
          Gene:
          KLHL24 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.183650725T>C, NC_000003.11:g.183368513T>C, XM_005247552.3:c.369T>C, XM_005247552.2:c.369T>C, XM_005247552.1:c.369T>C, NM_017644.3:c.369T>C, XM_017006655.2:c.369T>C, XM_017006655.1:c.369T>C, XM_017006653.2:c.369T>C, XM_017006653.1:c.369T>C, XM_017006658.2:c.369T>C, XM_017006658.1:c.369T>C, NM_001349419.1:c.369T>C, XM_047448371.1:c.369T>C, XM_047448372.1:c.369T>C, XM_047448374.1:c.369T>C, NM_001349427.1:c.369T>C, NM_001349418.1:c.369T>C, NM_001349428.1:c.-598T>C, NM_001349417.1:c.369T>C, NM_001349429.1:c.-598T>C, NM_001349413.1:c.369T>C, NM_001349414.1:c.369T>C, NM_001349420.1:c.369T>C, NM_001349416.1:c.369T>C, NM_001349424.1:c.369T>C, NM_001349415.1:c.369T>C, XM_047448373.1:c.369T>C, NM_001349422.1:c.369T>C, NM_001349425.1:c.369T>C, NM_001349423.1:c.369T>C, NM_001349421.1:c.369T>C, NM_001349426.1:c.369T>C, NR_146170.1:n.664T>C, NR_146169.1:n.601T>C, XM_047448375.1:c.369T>C

          5.

          rs1485380703 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:183679226 (GRCh38)
            3:183397014 (GRCh37)
            Canonical SPDI:
            NC_000003.12:183679225:A:G
            Gene:
            KLHL24 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_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_000003.12:g.183679226A>G, NC_000003.11:g.183397014A>G, XM_005247552.3:c.1743A>G, XM_005247552.2:c.1743A>G, XM_005247552.1:c.1743A>G, NM_017644.3:c.1743A>G, XM_017006655.2:c.1818A>G, XM_017006655.1:c.1818A>G, XM_017006653.2:c.1818A>G, XM_017006653.1:c.1818A>G, XM_017006658.2:c.1818A>G, XM_017006658.1:c.1818A>G, NM_001349419.1:c.1743A>G, XM_047448371.1:c.1818A>G, XM_047448372.1:c.1743A>G, XM_047448374.1:c.1743A>G, NM_001349427.1:c.1818A>G, NM_001349418.1:c.1818A>G, NM_001349428.1:c.900A>G, NM_001349417.1:c.1818A>G, NM_001349429.1:c.900A>G, NM_001349413.1:c.1818A>G, NM_001349414.1:c.1818A>G, NM_001349420.1:c.1743A>G, NM_001349416.1:c.1818A>G, NM_001349424.1:c.1743A>G, NM_001349415.1:c.1818A>G, XM_047448373.1:c.1743A>G, NM_001349422.1:c.1743A>G, NM_001349425.1:c.1743A>G, NM_001349423.1:c.1743A>G, NM_001349421.1:c.1743A>G, NM_001349426.1:c.1743A>G, NR_146170.1:n.1919A>G, NR_146169.1:n.1856A>G

            6.

            rs1475743458 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GCCG>- [Show Flanks]
              Chromosome:
              3:183664936 (GRCh38)
              3:183382724 (GRCh37)
              Canonical SPDI:
              NC_000003.12:183664935:GCCG:
              Gene:
              KLHL24 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,frameshift_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.183664936_183664939del, NC_000003.11:g.183382724_183382727del, XM_005247552.3:c.1121_1124del, XM_005247552.2:c.1121_1124del, XM_005247552.1:c.1121_1124del, NM_017644.3:c.1121_1124del, XM_017006655.2:c.1121_1124del, XM_017006655.1:c.1121_1124del, XM_017006653.2:c.1121_1124del, XM_017006653.1:c.1121_1124del, XM_017006658.2:c.1121_1124del, XM_017006658.1:c.1121_1124del, NM_001349419.1:c.1121_1124del, XM_047448371.1:c.1121_1124del, XM_047448372.1:c.1121_1124del, XM_047448374.1:c.1121_1124del, NM_001349427.1:c.1121_1124del, NM_001349418.1:c.1121_1124del, NM_001349428.1:c.278_281del, NM_001349417.1:c.1121_1124del, NM_001349429.1:c.278_281del, NM_001349413.1:c.1121_1124del, NM_001349414.1:c.1121_1124del, NM_001349420.1:c.1121_1124del, NM_001349416.1:c.1121_1124del, NM_001349424.1:c.1121_1124del, NM_001349415.1:c.1121_1124del, XM_047448373.1:c.1121_1124del, NM_001349422.1:c.1121_1124del, NM_001349425.1:c.1121_1124del, NM_001349423.1:c.1121_1124del, NM_001349421.1:c.1121_1124del, NM_001349426.1:c.1121_1124del, XP_005247609.1:p.Ser374fs, NP_060114.2:p.Ser374fs, XP_016862144.1:p.Ser374fs, XP_016862142.1:p.Ser374fs, XP_016862147.1:p.Ser374fs, NP_001336348.1:p.Ser374fs, XP_047304327.1:p.Ser374fs, XP_047304328.1:p.Ser374fs, XP_047304330.1:p.Ser374fs, NP_001336347.1:p.Ser374fs, NP_001336357.1:p.Ser93fs, NP_001336346.1:p.Ser374fs, NP_001336358.1:p.Ser93fs, NP_001336342.1:p.Ser374fs, NP_001336343.1:p.Ser374fs, NP_001336349.1:p.Ser374fs, NP_001336345.1:p.Ser374fs, NP_001336353.1:p.Ser374fs, NP_001336344.1:p.Ser374fs, XP_047304329.1:p.Ser374fs, NP_001336351.1:p.Ser374fs, NP_001336354.1:p.Ser374fs, NP_001336352.1:p.Ser374fs, NP_001336350.1:p.Ser374fs, NP_001336355.1:p.Ser374fs

              7.

              rs1475287654 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:183671156 (GRCh38)
                3:183388944 (GRCh37)
                Canonical SPDI:
                NC_000003.12:183671155:G:A
                Gene:
                KLHL24 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                A=0.000015/4 (TOPMED)
                HGVS:
                NC_000003.12:g.183671156G>A, NC_000003.11:g.183388944G>A, XM_005247552.3:c.1347G>A, XM_005247552.2:c.1347G>A, XM_005247552.1:c.1347G>A, NM_017644.3:c.1347G>A, XM_017006655.2:c.1422G>A, XM_017006655.1:c.1422G>A, XM_017006653.2:c.1422G>A, XM_017006653.1:c.1422G>A, XM_017006658.2:c.1422G>A, XM_017006658.1:c.1422G>A, NM_001349419.1:c.1347G>A, XM_047448371.1:c.1422G>A, XM_047448372.1:c.1347G>A, XM_047448374.1:c.1347G>A, NM_001349427.1:c.1422G>A, NM_001349418.1:c.1422G>A, NM_001349428.1:c.504G>A, NM_001349417.1:c.1422G>A, NM_001349429.1:c.504G>A, NM_001349413.1:c.1422G>A, NM_001349414.1:c.1422G>A, NM_001349420.1:c.1347G>A, NM_001349416.1:c.1422G>A, NM_001349424.1:c.1347G>A, NM_001349415.1:c.1422G>A, XM_047448373.1:c.1347G>A, NM_001349422.1:c.1347G>A, NM_001349425.1:c.1347G>A, NM_001349423.1:c.1347G>A, NM_001349421.1:c.1347G>A, NM_001349426.1:c.1347G>A, NR_146170.1:n.1523G>A, NR_146169.1:n.1460G>A, XM_047448375.1:c.*100G>A

                8.

                rs1475239193 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:183651031 (GRCh38)
                  3:183368819 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:183651030:A:G
                  Gene:
                  KLHL24 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000015/4 (TOPMED)
                  G=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000003.12:g.183651031A>G, NC_000003.11:g.183368819A>G, XM_005247552.3:c.675A>G, XM_005247552.2:c.675A>G, XM_005247552.1:c.675A>G, NM_017644.3:c.675A>G, XM_017006655.2:c.675A>G, XM_017006655.1:c.675A>G, XM_017006653.2:c.675A>G, XM_017006653.1:c.675A>G, XM_017006658.2:c.675A>G, XM_017006658.1:c.675A>G, NM_001349419.1:c.675A>G, XM_047448371.1:c.675A>G, XM_047448372.1:c.675A>G, XM_047448374.1:c.675A>G, NM_001349427.1:c.675A>G, NM_001349418.1:c.675A>G, NM_001349428.1:c.-292A>G, NM_001349417.1:c.675A>G, NM_001349429.1:c.-292A>G, NM_001349413.1:c.675A>G, NM_001349414.1:c.675A>G, NM_001349420.1:c.675A>G, NM_001349416.1:c.675A>G, NM_001349424.1:c.675A>G, NM_001349415.1:c.675A>G, XM_047448373.1:c.675A>G, NM_001349422.1:c.675A>G, NM_001349425.1:c.675A>G, NM_001349423.1:c.675A>G, NM_001349421.1:c.675A>G, NM_001349426.1:c.675A>G, NR_146170.1:n.970A>G, NR_146169.1:n.907A>G, XM_047448375.1:c.675A>G

                  9.

                  rs1473663682 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    3:183650715 (GRCh38)
                    3:183368503 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:183650714:T:G
                    Gene:
                    KLHL24 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_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_000003.12:g.183650715T>G, NC_000003.11:g.183368503T>G, XM_005247552.3:c.359T>G, XM_005247552.2:c.359T>G, XM_005247552.1:c.359T>G, NM_017644.3:c.359T>G, XM_017006655.2:c.359T>G, XM_017006655.1:c.359T>G, XM_017006653.2:c.359T>G, XM_017006653.1:c.359T>G, XM_017006658.2:c.359T>G, XM_017006658.1:c.359T>G, NM_001349419.1:c.359T>G, XM_047448371.1:c.359T>G, XM_047448372.1:c.359T>G, XM_047448374.1:c.359T>G, NM_001349427.1:c.359T>G, NM_001349418.1:c.359T>G, NM_001349428.1:c.-608T>G, NM_001349417.1:c.359T>G, NM_001349429.1:c.-608T>G, NM_001349413.1:c.359T>G, NM_001349414.1:c.359T>G, NM_001349420.1:c.359T>G, NM_001349416.1:c.359T>G, NM_001349424.1:c.359T>G, NM_001349415.1:c.359T>G, XM_047448373.1:c.359T>G, NM_001349422.1:c.359T>G, NM_001349425.1:c.359T>G, NM_001349423.1:c.359T>G, NM_001349421.1:c.359T>G, NM_001349426.1:c.359T>G, NR_146170.1:n.654T>G, NR_146169.1:n.591T>G, XM_047448375.1:c.359T>G, XP_005247609.1:p.Phe120Cys, NP_060114.2:p.Phe120Cys, XP_016862144.1:p.Phe120Cys, XP_016862142.1:p.Phe120Cys, XP_016862147.1:p.Phe120Cys, NP_001336348.1:p.Phe120Cys, XP_047304327.1:p.Phe120Cys, XP_047304328.1:p.Phe120Cys, XP_047304330.1:p.Phe120Cys, NP_001336347.1:p.Phe120Cys, NP_001336346.1:p.Phe120Cys, NP_001336342.1:p.Phe120Cys, NP_001336343.1:p.Phe120Cys, NP_001336349.1:p.Phe120Cys, NP_001336345.1:p.Phe120Cys, NP_001336353.1:p.Phe120Cys, NP_001336344.1:p.Phe120Cys, XP_047304329.1:p.Phe120Cys, NP_001336351.1:p.Phe120Cys, NP_001336354.1:p.Phe120Cys, NP_001336352.1:p.Phe120Cys, NP_001336350.1:p.Phe120Cys, NP_001336355.1:p.Phe120Cys, XP_047304331.1:p.Phe120Cys

                    10.

                    rs1469561419 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:183663460 (GRCh38)
                      3:183381248 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:183663459:C:T
                      Gene:
                      KLHL24 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.183663460C>T, NC_000003.11:g.183381248C>T, XM_005247552.3:c.923C>T, XM_005247552.2:c.923C>T, XM_005247552.1:c.923C>T, NM_017644.3:c.923C>T, XM_017006655.2:c.923C>T, XM_017006655.1:c.923C>T, XM_017006653.2:c.923C>T, XM_017006653.1:c.923C>T, XM_017006658.2:c.923C>T, XM_017006658.1:c.923C>T, NM_001349419.1:c.923C>T, XM_047448371.1:c.923C>T, XM_047448372.1:c.923C>T, XM_047448374.1:c.923C>T, NM_001349427.1:c.923C>T, NM_001349418.1:c.923C>T, NM_001349428.1:c.80C>T, NM_001349417.1:c.923C>T, NM_001349429.1:c.80C>T, NM_001349413.1:c.923C>T, NM_001349414.1:c.923C>T, NM_001349420.1:c.923C>T, NM_001349416.1:c.923C>T, NM_001349424.1:c.923C>T, NM_001349415.1:c.923C>T, XM_047448373.1:c.923C>T, NM_001349422.1:c.923C>T, NM_001349425.1:c.923C>T, NM_001349423.1:c.923C>T, NM_001349421.1:c.923C>T, NM_001349426.1:c.923C>T, NR_146170.1:n.1218C>T, NR_146169.1:n.1155C>T, XM_047448375.1:c.923C>T, XP_005247609.1:p.Ser308Phe, NP_060114.2:p.Ser308Phe, XP_016862144.1:p.Ser308Phe, XP_016862142.1:p.Ser308Phe, XP_016862147.1:p.Ser308Phe, NP_001336348.1:p.Ser308Phe, XP_047304327.1:p.Ser308Phe, XP_047304328.1:p.Ser308Phe, XP_047304330.1:p.Ser308Phe, NP_001336347.1:p.Ser308Phe, NP_001336357.1:p.Ser27Phe, NP_001336346.1:p.Ser308Phe, NP_001336358.1:p.Ser27Phe, NP_001336342.1:p.Ser308Phe, NP_001336343.1:p.Ser308Phe, NP_001336349.1:p.Ser308Phe, NP_001336345.1:p.Ser308Phe, NP_001336353.1:p.Ser308Phe, NP_001336344.1:p.Ser308Phe, XP_047304329.1:p.Ser308Phe, NP_001336351.1:p.Ser308Phe, NP_001336354.1:p.Ser308Phe, NP_001336352.1:p.Ser308Phe, NP_001336350.1:p.Ser308Phe, NP_001336355.1:p.Ser308Phe, XP_047304331.1:p.Ser308Phe

                      11.

                      rs1464275604 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        3:183663539 (GRCh38)
                        3:183381327 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:183663538:C:G
                        Gene:
                        KLHL24 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.183663539C>G, NC_000003.11:g.183381327C>G, XM_005247552.3:c.1002C>G, XM_005247552.2:c.1002C>G, XM_005247552.1:c.1002C>G, NM_017644.3:c.1002C>G, XM_017006655.2:c.1002C>G, XM_017006655.1:c.1002C>G, XM_017006653.2:c.1002C>G, XM_017006653.1:c.1002C>G, XM_017006658.2:c.1002C>G, XM_017006658.1:c.1002C>G, NM_001349419.1:c.1002C>G, XM_047448371.1:c.1002C>G, XM_047448372.1:c.1002C>G, XM_047448374.1:c.1002C>G, NM_001349427.1:c.1002C>G, NM_001349418.1:c.1002C>G, NM_001349428.1:c.159C>G, NM_001349417.1:c.1002C>G, NM_001349429.1:c.159C>G, NM_001349413.1:c.1002C>G, NM_001349414.1:c.1002C>G, NM_001349420.1:c.1002C>G, NM_001349416.1:c.1002C>G, NM_001349424.1:c.1002C>G, NM_001349415.1:c.1002C>G, XM_047448373.1:c.1002C>G, NM_001349422.1:c.1002C>G, NM_001349425.1:c.1002C>G, NM_001349423.1:c.1002C>G, NM_001349421.1:c.1002C>G, NM_001349426.1:c.1002C>G, NR_146170.1:n.1297C>G, NR_146169.1:n.1234C>G, XM_047448375.1:c.1002C>G, XP_005247609.1:p.Cys334Trp, NP_060114.2:p.Cys334Trp, XP_016862144.1:p.Cys334Trp, XP_016862142.1:p.Cys334Trp, XP_016862147.1:p.Cys334Trp, NP_001336348.1:p.Cys334Trp, XP_047304327.1:p.Cys334Trp, XP_047304328.1:p.Cys334Trp, XP_047304330.1:p.Cys334Trp, NP_001336347.1:p.Cys334Trp, NP_001336357.1:p.Cys53Trp, NP_001336346.1:p.Cys334Trp, NP_001336358.1:p.Cys53Trp, NP_001336342.1:p.Cys334Trp, NP_001336343.1:p.Cys334Trp, NP_001336349.1:p.Cys334Trp, NP_001336345.1:p.Cys334Trp, NP_001336353.1:p.Cys334Trp, NP_001336344.1:p.Cys334Trp, XP_047304329.1:p.Cys334Trp, NP_001336351.1:p.Cys334Trp, NP_001336354.1:p.Cys334Trp, NP_001336352.1:p.Cys334Trp, NP_001336350.1:p.Cys334Trp, NP_001336355.1:p.Cys334Trp, XP_047304331.1:p.Cys334Trp

                        12.

                        rs1463744042 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          3:183650477 (GRCh38)
                          3:183368265 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:183650476:G:T
                          Gene:
                          KLHL24 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.183650477G>T, NC_000003.11:g.183368265G>T, XM_005247552.3:c.121G>T, XM_005247552.2:c.121G>T, XM_005247552.1:c.121G>T, NM_017644.3:c.121G>T, XM_017006655.2:c.121G>T, XM_017006655.1:c.121G>T, XM_017006653.2:c.121G>T, XM_017006653.1:c.121G>T, XM_017006658.2:c.121G>T, XM_017006658.1:c.121G>T, NM_001349419.1:c.121G>T, XM_047448371.1:c.121G>T, XM_047448372.1:c.121G>T, XM_047448374.1:c.121G>T, NM_001349427.1:c.121G>T, NM_001349418.1:c.121G>T, NM_001349428.1:c.-846G>T, NM_001349417.1:c.121G>T, NM_001349429.1:c.-846G>T, NM_001349413.1:c.121G>T, NM_001349414.1:c.121G>T, NM_001349420.1:c.121G>T, NM_001349416.1:c.121G>T, NM_001349424.1:c.121G>T, NM_001349415.1:c.121G>T, XM_047448373.1:c.121G>T, NM_001349422.1:c.121G>T, NM_001349425.1:c.121G>T, NM_001349423.1:c.121G>T, NM_001349421.1:c.121G>T, NM_001349426.1:c.121G>T, NR_146170.1:n.416G>T, NR_146169.1:n.353G>T, XM_047448375.1:c.121G>T, XP_005247609.1:p.Asp41Tyr, NP_060114.2:p.Asp41Tyr, XP_016862144.1:p.Asp41Tyr, XP_016862142.1:p.Asp41Tyr, XP_016862147.1:p.Asp41Tyr, NP_001336348.1:p.Asp41Tyr, XP_047304327.1:p.Asp41Tyr, XP_047304328.1:p.Asp41Tyr, XP_047304330.1:p.Asp41Tyr, NP_001336347.1:p.Asp41Tyr, NP_001336346.1:p.Asp41Tyr, NP_001336342.1:p.Asp41Tyr, NP_001336343.1:p.Asp41Tyr, NP_001336349.1:p.Asp41Tyr, NP_001336345.1:p.Asp41Tyr, NP_001336353.1:p.Asp41Tyr, NP_001336344.1:p.Asp41Tyr, XP_047304329.1:p.Asp41Tyr, NP_001336351.1:p.Asp41Tyr, NP_001336354.1:p.Asp41Tyr, NP_001336352.1:p.Asp41Tyr, NP_001336350.1:p.Asp41Tyr, NP_001336355.1:p.Asp41Tyr, XP_047304331.1:p.Asp41Tyr

                          13.

                          rs1461654425 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:183671047 (GRCh38)
                            3:183388835 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:183671046:G:A
                            Gene:
                            KLHL24 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.183671047G>A, NC_000003.11:g.183388835G>A, XM_005247552.3:c.1238G>A, XM_005247552.2:c.1238G>A, XM_005247552.1:c.1238G>A, NM_017644.3:c.1238G>A, XM_017006655.2:c.1313G>A, XM_017006655.1:c.1313G>A, XM_017006653.2:c.1313G>A, XM_017006653.1:c.1313G>A, XM_017006658.2:c.1313G>A, XM_017006658.1:c.1313G>A, NM_001349419.1:c.1238G>A, XM_047448371.1:c.1313G>A, XM_047448372.1:c.1238G>A, XM_047448374.1:c.1238G>A, NM_001349427.1:c.1313G>A, NM_001349418.1:c.1313G>A, NM_001349428.1:c.395G>A, NM_001349417.1:c.1313G>A, NM_001349429.1:c.395G>A, NM_001349413.1:c.1313G>A, NM_001349414.1:c.1313G>A, NM_001349420.1:c.1238G>A, NM_001349416.1:c.1313G>A, NM_001349424.1:c.1238G>A, NM_001349415.1:c.1313G>A, XM_047448373.1:c.1238G>A, NM_001349422.1:c.1238G>A, NM_001349425.1:c.1238G>A, NM_001349423.1:c.1238G>A, NM_001349421.1:c.1238G>A, NM_001349426.1:c.1238G>A, NR_146170.1:n.1414G>A, NR_146169.1:n.1351G>A, XM_047448375.1:c.1119G>A, XP_005247609.1:p.Gly413Asp, NP_060114.2:p.Gly413Asp, XP_016862144.1:p.Gly438Asp, XP_016862142.1:p.Gly438Asp, XP_016862147.1:p.Gly438Asp, NP_001336348.1:p.Gly413Asp, XP_047304327.1:p.Gly438Asp, XP_047304328.1:p.Gly413Asp, XP_047304330.1:p.Gly413Asp, NP_001336347.1:p.Gly438Asp, NP_001336357.1:p.Gly132Asp, NP_001336346.1:p.Gly438Asp, NP_001336358.1:p.Gly132Asp, NP_001336342.1:p.Gly438Asp, NP_001336343.1:p.Gly438Asp, NP_001336349.1:p.Gly413Asp, NP_001336345.1:p.Gly438Asp, NP_001336353.1:p.Gly413Asp, NP_001336344.1:p.Gly438Asp, XP_047304329.1:p.Gly413Asp, NP_001336351.1:p.Gly413Asp, NP_001336354.1:p.Gly413Asp, NP_001336352.1:p.Gly413Asp, NP_001336350.1:p.Gly413Asp, NP_001336355.1:p.Gly413Asp

                            14.

                            rs1461136736 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              3:183672421 (GRCh38)
                              3:183390209 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:183672420:A:C
                              Gene:
                              KLHL24 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              C=0.000016/4 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.183672421A>C, NC_000003.11:g.183390209A>C, XM_005247552.3:c.1539A>C, XM_005247552.2:c.1539A>C, XM_005247552.1:c.1539A>C, NM_017644.3:c.1539A>C, XM_017006655.2:c.1614A>C, XM_017006655.1:c.1614A>C, XM_017006653.2:c.1614A>C, XM_017006653.1:c.1614A>C, XM_017006658.2:c.1614A>C, XM_017006658.1:c.1614A>C, NM_001349419.1:c.1539A>C, XM_047448371.1:c.1614A>C, XM_047448372.1:c.1539A>C, XM_047448374.1:c.1539A>C, NM_001349427.1:c.1614A>C, NM_001349418.1:c.1614A>C, NM_001349428.1:c.696A>C, NM_001349417.1:c.1614A>C, NM_001349429.1:c.696A>C, NM_001349413.1:c.1614A>C, NM_001349414.1:c.1614A>C, NM_001349420.1:c.1539A>C, NM_001349416.1:c.1614A>C, NM_001349424.1:c.1539A>C, NM_001349415.1:c.1614A>C, XM_047448373.1:c.1539A>C, NM_001349422.1:c.1539A>C, NM_001349425.1:c.1539A>C, NM_001349423.1:c.1539A>C, NM_001349421.1:c.1539A>C, NM_001349426.1:c.1539A>C, NR_146170.1:n.1715A>C, NR_146169.1:n.1652A>C

                              15.

                              rs1460919764 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                3:183650771 (GRCh38)
                                3:183368559 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:183650770:C:G
                                Gene:
                                KLHL24 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000003.12:g.183650771C>G, NC_000003.11:g.183368559C>G, XM_005247552.3:c.415C>G, XM_005247552.2:c.415C>G, XM_005247552.1:c.415C>G, NM_017644.3:c.415C>G, XM_017006655.2:c.415C>G, XM_017006655.1:c.415C>G, XM_017006653.2:c.415C>G, XM_017006653.1:c.415C>G, XM_017006658.2:c.415C>G, XM_017006658.1:c.415C>G, NM_001349419.1:c.415C>G, XM_047448371.1:c.415C>G, XM_047448372.1:c.415C>G, XM_047448374.1:c.415C>G, NM_001349427.1:c.415C>G, NM_001349418.1:c.415C>G, NM_001349428.1:c.-552C>G, NM_001349417.1:c.415C>G, NM_001349429.1:c.-552C>G, NM_001349413.1:c.415C>G, NM_001349414.1:c.415C>G, NM_001349420.1:c.415C>G, NM_001349416.1:c.415C>G, NM_001349424.1:c.415C>G, NM_001349415.1:c.415C>G, XM_047448373.1:c.415C>G, NM_001349422.1:c.415C>G, NM_001349425.1:c.415C>G, NM_001349423.1:c.415C>G, NM_001349421.1:c.415C>G, NM_001349426.1:c.415C>G, NR_146170.1:n.710C>G, NR_146169.1:n.647C>G, XM_047448375.1:c.415C>G, XP_005247609.1:p.Leu139Val, NP_060114.2:p.Leu139Val, XP_016862144.1:p.Leu139Val, XP_016862142.1:p.Leu139Val, XP_016862147.1:p.Leu139Val, NP_001336348.1:p.Leu139Val, XP_047304327.1:p.Leu139Val, XP_047304328.1:p.Leu139Val, XP_047304330.1:p.Leu139Val, NP_001336347.1:p.Leu139Val, NP_001336346.1:p.Leu139Val, NP_001336342.1:p.Leu139Val, NP_001336343.1:p.Leu139Val, NP_001336349.1:p.Leu139Val, NP_001336345.1:p.Leu139Val, NP_001336353.1:p.Leu139Val, NP_001336344.1:p.Leu139Val, XP_047304329.1:p.Leu139Val, NP_001336351.1:p.Leu139Val, NP_001336354.1:p.Leu139Val, NP_001336352.1:p.Leu139Val, NP_001336350.1:p.Leu139Val, NP_001336355.1:p.Leu139Val, XP_047304331.1:p.Leu139Val

                                16.

                                rs1458043444 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:183679088 (GRCh38)
                                  3:183396876 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:183679087:A:G
                                  Gene:
                                  KLHL24 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.183679088A>G, NC_000003.11:g.183396876A>G, XM_005247552.3:c.1605A>G, XM_005247552.2:c.1605A>G, XM_005247552.1:c.1605A>G, NM_017644.3:c.1605A>G, XM_017006655.2:c.1680A>G, XM_017006655.1:c.1680A>G, XM_017006653.2:c.1680A>G, XM_017006653.1:c.1680A>G, XM_017006658.2:c.1680A>G, XM_017006658.1:c.1680A>G, NM_001349419.1:c.1605A>G, XM_047448371.1:c.1680A>G, XM_047448372.1:c.1605A>G, XM_047448374.1:c.1605A>G, NM_001349427.1:c.1680A>G, NM_001349418.1:c.1680A>G, NM_001349428.1:c.762A>G, NM_001349417.1:c.1680A>G, NM_001349429.1:c.762A>G, NM_001349413.1:c.1680A>G, NM_001349414.1:c.1680A>G, NM_001349420.1:c.1605A>G, NM_001349416.1:c.1680A>G, NM_001349424.1:c.1605A>G, NM_001349415.1:c.1680A>G, XM_047448373.1:c.1605A>G, NM_001349422.1:c.1605A>G, NM_001349425.1:c.1605A>G, NM_001349423.1:c.1605A>G, NM_001349421.1:c.1605A>G, NM_001349426.1:c.1605A>G, NR_146170.1:n.1781A>G, NR_146169.1:n.1718A>G

                                  17.

                                  rs1457505642 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    3:183650969 (GRCh38)
                                    3:183368757 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:183650968:C:A
                                    Gene:
                                    KLHL24 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000012/3 (GnomAD_exomes)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.183650969C>A, NC_000003.11:g.183368757C>A, XM_005247552.3:c.613C>A, XM_005247552.2:c.613C>A, XM_005247552.1:c.613C>A, NM_017644.3:c.613C>A, XM_017006655.2:c.613C>A, XM_017006655.1:c.613C>A, XM_017006653.2:c.613C>A, XM_017006653.1:c.613C>A, XM_017006658.2:c.613C>A, XM_017006658.1:c.613C>A, NM_001349419.1:c.613C>A, XM_047448371.1:c.613C>A, XM_047448372.1:c.613C>A, XM_047448374.1:c.613C>A, NM_001349427.1:c.613C>A, NM_001349418.1:c.613C>A, NM_001349428.1:c.-354C>A, NM_001349417.1:c.613C>A, NM_001349429.1:c.-354C>A, NM_001349413.1:c.613C>A, NM_001349414.1:c.613C>A, NM_001349420.1:c.613C>A, NM_001349416.1:c.613C>A, NM_001349424.1:c.613C>A, NM_001349415.1:c.613C>A, XM_047448373.1:c.613C>A, NM_001349422.1:c.613C>A, NM_001349425.1:c.613C>A, NM_001349423.1:c.613C>A, NM_001349421.1:c.613C>A, NM_001349426.1:c.613C>A, NR_146170.1:n.908C>A, NR_146169.1:n.845C>A, XM_047448375.1:c.613C>A, XP_005247609.1:p.Leu205Ile, NP_060114.2:p.Leu205Ile, XP_016862144.1:p.Leu205Ile, XP_016862142.1:p.Leu205Ile, XP_016862147.1:p.Leu205Ile, NP_001336348.1:p.Leu205Ile, XP_047304327.1:p.Leu205Ile, XP_047304328.1:p.Leu205Ile, XP_047304330.1:p.Leu205Ile, NP_001336347.1:p.Leu205Ile, NP_001336346.1:p.Leu205Ile, NP_001336342.1:p.Leu205Ile, NP_001336343.1:p.Leu205Ile, NP_001336349.1:p.Leu205Ile, NP_001336345.1:p.Leu205Ile, NP_001336353.1:p.Leu205Ile, NP_001336344.1:p.Leu205Ile, XP_047304329.1:p.Leu205Ile, NP_001336351.1:p.Leu205Ile, NP_001336354.1:p.Leu205Ile, NP_001336352.1:p.Leu205Ile, NP_001336350.1:p.Leu205Ile, NP_001336355.1:p.Leu205Ile, XP_047304331.1:p.Leu205Ile

                                    18.

                                    rs1457241552 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:183671138 (GRCh38)
                                      3:183388926 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:183671137:C:T
                                      Gene:
                                      KLHL24 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00003/8 (TOPMED)
                                      T=0.000043/6 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.183671138C>T, NC_000003.11:g.183388926C>T, XM_005247552.3:c.1329C>T, XM_005247552.2:c.1329C>T, XM_005247552.1:c.1329C>T, NM_017644.3:c.1329C>T, XM_017006655.2:c.1404C>T, XM_017006655.1:c.1404C>T, XM_017006653.2:c.1404C>T, XM_017006653.1:c.1404C>T, XM_017006658.2:c.1404C>T, XM_017006658.1:c.1404C>T, NM_001349419.1:c.1329C>T, XM_047448371.1:c.1404C>T, XM_047448372.1:c.1329C>T, XM_047448374.1:c.1329C>T, NM_001349427.1:c.1404C>T, NM_001349418.1:c.1404C>T, NM_001349428.1:c.486C>T, NM_001349417.1:c.1404C>T, NM_001349429.1:c.486C>T, NM_001349413.1:c.1404C>T, NM_001349414.1:c.1404C>T, NM_001349420.1:c.1329C>T, NM_001349416.1:c.1404C>T, NM_001349424.1:c.1329C>T, NM_001349415.1:c.1404C>T, XM_047448373.1:c.1329C>T, NM_001349422.1:c.1329C>T, NM_001349425.1:c.1329C>T, NM_001349423.1:c.1329C>T, NM_001349421.1:c.1329C>T, NM_001349426.1:c.1329C>T, NR_146170.1:n.1505C>T, NR_146169.1:n.1442C>T, XM_047448375.1:c.*82C>T

                                      19.

                                      rs1456808930 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:183650626 (GRCh38)
                                        3:183368414 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:183650625:C:T
                                        Gene:
                                        KLHL24 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.183650626C>T, NC_000003.11:g.183368414C>T, XM_005247552.3:c.270C>T, XM_005247552.2:c.270C>T, XM_005247552.1:c.270C>T, NM_017644.3:c.270C>T, XM_017006655.2:c.270C>T, XM_017006655.1:c.270C>T, XM_017006653.2:c.270C>T, XM_017006653.1:c.270C>T, XM_017006658.2:c.270C>T, XM_017006658.1:c.270C>T, NM_001349419.1:c.270C>T, XM_047448371.1:c.270C>T, XM_047448372.1:c.270C>T, XM_047448374.1:c.270C>T, NM_001349427.1:c.270C>T, NM_001349418.1:c.270C>T, NM_001349428.1:c.-697C>T, NM_001349417.1:c.270C>T, NM_001349429.1:c.-697C>T, NM_001349413.1:c.270C>T, NM_001349414.1:c.270C>T, NM_001349420.1:c.270C>T, NM_001349416.1:c.270C>T, NM_001349424.1:c.270C>T, NM_001349415.1:c.270C>T, XM_047448373.1:c.270C>T, NM_001349422.1:c.270C>T, NM_001349425.1:c.270C>T, NM_001349423.1:c.270C>T, NM_001349421.1:c.270C>T, NM_001349426.1:c.270C>T, NR_146170.1:n.565C>T, NR_146169.1:n.502C>T, XM_047448375.1:c.270C>T

                                        20.

                                        rs1452640245 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:183663545 (GRCh38)
                                          3:183381333 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:183663544:T:C
                                          Gene:
                                          KLHL24 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000003.12:g.183663545T>C, NC_000003.11:g.183381333T>C, XM_005247552.3:c.1008T>C, XM_005247552.2:c.1008T>C, XM_005247552.1:c.1008T>C, NM_017644.3:c.1008T>C, XM_017006655.2:c.1008T>C, XM_017006655.1:c.1008T>C, XM_017006653.2:c.1008T>C, XM_017006653.1:c.1008T>C, XM_017006658.2:c.1008T>C, XM_017006658.1:c.1008T>C, NM_001349419.1:c.1008T>C, XM_047448371.1:c.1008T>C, XM_047448372.1:c.1008T>C, XM_047448374.1:c.1008T>C, NM_001349427.1:c.1008T>C, NM_001349418.1:c.1008T>C, NM_001349428.1:c.165T>C, NM_001349417.1:c.1008T>C, NM_001349429.1:c.165T>C, NM_001349413.1:c.1008T>C, NM_001349414.1:c.1008T>C, NM_001349420.1:c.1008T>C, NM_001349416.1:c.1008T>C, NM_001349424.1:c.1008T>C, NM_001349415.1:c.1008T>C, XM_047448373.1:c.1008T>C, NM_001349422.1:c.1008T>C, NM_001349425.1:c.1008T>C, NM_001349423.1:c.1008T>C, NM_001349421.1:c.1008T>C, NM_001349426.1:c.1008T>C, NR_146170.1:n.1303T>C, NR_146169.1:n.1240T>C, XM_047448375.1:c.1008T>C

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