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Items: 1 to 20 of 686

1.

rs1490050129 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    20:46501554 (GRCh38)
    20:45130193 (GRCh37)
    Canonical SPDI:
    NC_000020.11:46501553:A:C
    Gene:
    ZNF334 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000020.11:g.46501554A>C, NC_000020.10:g.45130193A>C, NM_018102.6:c.1785T>G, NM_018102.5:c.1785T>G, NM_018102.4:c.1785T>G, NM_199441.3:c.1671T>G, NM_199441.2:c.1671T>G, NM_199441.1:c.1671T>G, NM_001270497.3:c.1782T>G, NM_001270497.2:c.1782T>G, NM_001270497.1:c.1782T>G, XM_017027937.2:c.1854T>G, XM_017027937.1:c.1854T>G, NM_001353819.2:c.1671T>G, NM_001353819.1:c.1671T>G, NM_001353822.2:c.1782T>G, NM_001353822.1:c.1782T>G, NM_001353826.2:c.1806T>G, NM_001353826.1:c.1806T>G, NM_001353823.2:c.1782T>G, NM_001353823.1:c.1782T>G, NM_001353824.2:c.1785T>G, NM_001353824.1:c.1785T>G, NM_001353820.2:c.1770T>G, NM_001353820.1:c.1770T>G, NM_001353814.2:c.1671T>G, NM_001353814.1:c.1671T>G, NM_001353825.2:c.1854T>G, NM_001353825.1:c.1854T>G, NM_001353818.2:c.1671T>G, NM_001353818.1:c.1671T>G, NM_001353821.2:c.1782T>G, NM_001353821.1:c.1782T>G, NM_001353817.2:c.1671T>G, NM_001353817.1:c.1671T>G, NM_001353813.2:c.1671T>G, NM_001353813.1:c.1671T>G, NM_001353815.2:c.1671T>G, NM_001353815.1:c.1671T>G, NM_001353816.2:c.1671T>G, NM_001353816.1:c.1671T>G, XM_047440283.1:c.1671T>G, XM_047440280.1:c.1806T>G, XM_047440279.1:c.1854T>G, XM_047440282.1:c.1782T>G, XM_047440284.1:c.1671T>G, XR_007067464.1:n.3086T>G, NR_073026.1:n.1941T>G, XM_047440281.1:c.1785T>G

    2.

    rs1488639558 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      20:46502406 (GRCh38)
      20:45131045 (GRCh37)
      Canonical SPDI:
      NC_000020.11:46502405:G:A
      Gene:
      ZNF334 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000015/4 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:
      NC_000020.11:g.46502406G>A, NC_000020.10:g.45131045G>A, NM_018102.6:c.933C>T, NM_018102.5:c.933C>T, NM_018102.4:c.933C>T, NM_199441.3:c.819C>T, NM_199441.2:c.819C>T, NM_199441.1:c.819C>T, NM_001270497.3:c.930C>T, NM_001270497.2:c.930C>T, NM_001270497.1:c.930C>T, XM_017027937.2:c.1002C>T, XM_017027937.1:c.1002C>T, NM_001353819.2:c.819C>T, NM_001353819.1:c.819C>T, NM_001353822.2:c.930C>T, NM_001353822.1:c.930C>T, NM_001353826.2:c.954C>T, NM_001353826.1:c.954C>T, NM_001353823.2:c.930C>T, NM_001353823.1:c.930C>T, NM_001353824.2:c.933C>T, NM_001353824.1:c.933C>T, NM_001353820.2:c.918C>T, NM_001353820.1:c.918C>T, NM_001353814.2:c.819C>T, NM_001353814.1:c.819C>T, NM_001353825.2:c.1002C>T, NM_001353825.1:c.1002C>T, NM_001353818.2:c.819C>T, NM_001353818.1:c.819C>T, NM_001353821.2:c.930C>T, NM_001353821.1:c.930C>T, NM_001353817.2:c.819C>T, NM_001353817.1:c.819C>T, NM_001353813.2:c.819C>T, NM_001353813.1:c.819C>T, NM_001353815.2:c.819C>T, NM_001353815.1:c.819C>T, NM_001353816.2:c.819C>T, NM_001353816.1:c.819C>T, XM_047440283.1:c.819C>T, XM_047440280.1:c.954C>T, XM_047440279.1:c.1002C>T, XM_047440282.1:c.930C>T, XM_047440284.1:c.819C>T, XR_007067464.1:n.2234C>T, NR_073026.1:n.1089C>T, XM_047440281.1:c.933C>T

      3.

      rs1488502990 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        20:46501615 (GRCh38)
        20:45130254 (GRCh37)
        Canonical SPDI:
        NC_000020.11:46501614:T:C
        Gene:
        ZNF334 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.46501615T>C, NC_000020.10:g.45130254T>C, NM_018102.6:c.1724A>G, NM_018102.5:c.1724A>G, NM_018102.4:c.1724A>G, NM_199441.3:c.1610A>G, NM_199441.2:c.1610A>G, NM_199441.1:c.1610A>G, NM_001270497.3:c.1721A>G, NM_001270497.2:c.1721A>G, NM_001270497.1:c.1721A>G, XM_017027937.2:c.1793A>G, XM_017027937.1:c.1793A>G, NM_001353819.2:c.1610A>G, NM_001353819.1:c.1610A>G, NM_001353822.2:c.1721A>G, NM_001353822.1:c.1721A>G, NM_001353826.2:c.1745A>G, NM_001353826.1:c.1745A>G, NM_001353823.2:c.1721A>G, NM_001353823.1:c.1721A>G, NM_001353824.2:c.1724A>G, NM_001353824.1:c.1724A>G, NM_001353820.2:c.1709A>G, NM_001353820.1:c.1709A>G, NM_001353814.2:c.1610A>G, NM_001353814.1:c.1610A>G, NM_001353825.2:c.1793A>G, NM_001353825.1:c.1793A>G, NM_001353818.2:c.1610A>G, NM_001353818.1:c.1610A>G, NM_001353821.2:c.1721A>G, NM_001353821.1:c.1721A>G, NM_001353817.2:c.1610A>G, NM_001353817.1:c.1610A>G, NM_001353813.2:c.1610A>G, NM_001353813.1:c.1610A>G, NM_001353815.2:c.1610A>G, NM_001353815.1:c.1610A>G, NM_001353816.2:c.1610A>G, NM_001353816.1:c.1610A>G, XM_047440283.1:c.1610A>G, XM_047440280.1:c.1745A>G, XM_047440279.1:c.1793A>G, XM_047440282.1:c.1721A>G, XM_047440284.1:c.1610A>G, XR_007067464.1:n.3025A>G, NR_073026.1:n.1880A>G, XM_047440281.1:c.1724A>G, NP_060572.3:p.Asn575Ser, NP_955473.1:p.Asn537Ser, NP_001257426.1:p.Asn574Ser, XP_016883426.1:p.Asn598Ser, NP_001340748.1:p.Asn537Ser, NP_001340751.1:p.Asn574Ser, NP_001340755.1:p.Asn582Ser, NP_001340752.1:p.Asn574Ser, NP_001340753.1:p.Asn575Ser, NP_001340749.1:p.Asn570Ser, NP_001340743.1:p.Asn537Ser, NP_001340754.1:p.Asn598Ser, NP_001340747.1:p.Asn537Ser, NP_001340750.1:p.Asn574Ser, NP_001340746.1:p.Asn537Ser, NP_001340742.1:p.Asn537Ser, NP_001340744.1:p.Asn537Ser, NP_001340745.1:p.Asn537Ser, XP_047296239.1:p.Asn537Ser, XP_047296236.1:p.Asn582Ser, XP_047296235.1:p.Asn598Ser, XP_047296238.1:p.Asn574Ser, XP_047296240.1:p.Asn537Ser, XP_047296237.1:p.Asn575Ser

        4.

        rs1487385152 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          20:46502585 (GRCh38)
          20:45131224 (GRCh37)
          Canonical SPDI:
          NC_000020.11:46502584:G:A,NC_000020.11:46502584:G:C,NC_000020.11:46502584:G:T
          Gene:
          ZNF334 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000020.11:g.46502585G>A, NC_000020.11:g.46502585G>C, NC_000020.11:g.46502585G>T, NC_000020.10:g.45131224G>A, NC_000020.10:g.45131224G>C, NC_000020.10:g.45131224G>T, NM_018102.6:c.754C>T, NM_018102.6:c.754C>G, NM_018102.6:c.754C>A, NM_018102.5:c.754C>T, NM_018102.5:c.754C>G, NM_018102.5:c.754C>A, NM_018102.4:c.754C>T, NM_018102.4:c.754C>G, NM_018102.4:c.754C>A, NM_199441.3:c.640C>T, NM_199441.3:c.640C>G, NM_199441.3:c.640C>A, NM_199441.2:c.640C>T, NM_199441.2:c.640C>G, NM_199441.2:c.640C>A, NM_199441.1:c.640C>T, NM_199441.1:c.640C>G, NM_199441.1:c.640C>A, NM_001270497.3:c.751C>T, NM_001270497.3:c.751C>G, NM_001270497.3:c.751C>A, NM_001270497.2:c.751C>T, NM_001270497.2:c.751C>G, NM_001270497.2:c.751C>A, NM_001270497.1:c.751C>T, NM_001270497.1:c.751C>G, NM_001270497.1:c.751C>A, XM_017027937.2:c.823C>T, XM_017027937.2:c.823C>G, XM_017027937.2:c.823C>A, XM_017027937.1:c.823C>T, XM_017027937.1:c.823C>G, XM_017027937.1:c.823C>A, NM_001353819.2:c.640C>T, NM_001353819.2:c.640C>G, NM_001353819.2:c.640C>A, NM_001353819.1:c.640C>T, NM_001353819.1:c.640C>G, NM_001353819.1:c.640C>A, NM_001353822.2:c.751C>T, NM_001353822.2:c.751C>G, NM_001353822.2:c.751C>A, NM_001353822.1:c.751C>T, NM_001353822.1:c.751C>G, NM_001353822.1:c.751C>A, NM_001353826.2:c.775C>T, NM_001353826.2:c.775C>G, NM_001353826.2:c.775C>A, NM_001353826.1:c.775C>T, NM_001353826.1:c.775C>G, NM_001353826.1:c.775C>A, NM_001353823.2:c.751C>T, NM_001353823.2:c.751C>G, NM_001353823.2:c.751C>A, NM_001353823.1:c.751C>T, NM_001353823.1:c.751C>G, NM_001353823.1:c.751C>A, NM_001353824.2:c.754C>T, NM_001353824.2:c.754C>G, NM_001353824.2:c.754C>A, NM_001353824.1:c.754C>T, NM_001353824.1:c.754C>G, NM_001353824.1:c.754C>A, NM_001353820.2:c.739C>T, NM_001353820.2:c.739C>G, NM_001353820.2:c.739C>A, NM_001353820.1:c.739C>T, NM_001353820.1:c.739C>G, NM_001353820.1:c.739C>A, NM_001353814.2:c.640C>T, NM_001353814.2:c.640C>G, NM_001353814.2:c.640C>A, NM_001353814.1:c.640C>T, NM_001353814.1:c.640C>G, NM_001353814.1:c.640C>A, NM_001353825.2:c.823C>T, NM_001353825.2:c.823C>G, NM_001353825.2:c.823C>A, NM_001353825.1:c.823C>T, NM_001353825.1:c.823C>G, NM_001353825.1:c.823C>A, NM_001353818.2:c.640C>T, NM_001353818.2:c.640C>G, NM_001353818.2:c.640C>A, NM_001353818.1:c.640C>T, NM_001353818.1:c.640C>G, NM_001353818.1:c.640C>A, NM_001353821.2:c.751C>T, NM_001353821.2:c.751C>G, NM_001353821.2:c.751C>A, NM_001353821.1:c.751C>T, NM_001353821.1:c.751C>G, NM_001353821.1:c.751C>A, NM_001353817.2:c.640C>T, NM_001353817.2:c.640C>G, NM_001353817.2:c.640C>A, NM_001353817.1:c.640C>T, NM_001353817.1:c.640C>G, NM_001353817.1:c.640C>A, NM_001353813.2:c.640C>T, NM_001353813.2:c.640C>G, NM_001353813.2:c.640C>A, NM_001353813.1:c.640C>T, NM_001353813.1:c.640C>G, NM_001353813.1:c.640C>A, NM_001353815.2:c.640C>T, NM_001353815.2:c.640C>G, NM_001353815.2:c.640C>A, NM_001353815.1:c.640C>T, NM_001353815.1:c.640C>G, NM_001353815.1:c.640C>A, NM_001353816.2:c.640C>T, NM_001353816.2:c.640C>G, NM_001353816.2:c.640C>A, NM_001353816.1:c.640C>T, NM_001353816.1:c.640C>G, NM_001353816.1:c.640C>A, XM_047440283.1:c.640C>T, XM_047440283.1:c.640C>G, XM_047440283.1:c.640C>A, XM_047440280.1:c.775C>T, XM_047440280.1:c.775C>G, XM_047440280.1:c.775C>A, XM_047440279.1:c.823C>T, XM_047440279.1:c.823C>G, XM_047440279.1:c.823C>A, XM_047440282.1:c.751C>T, XM_047440282.1:c.751C>G, XM_047440282.1:c.751C>A, XM_047440284.1:c.640C>T, XM_047440284.1:c.640C>G, XM_047440284.1:c.640C>A, XR_007067464.1:n.2055C>T, XR_007067464.1:n.2055C>G, XR_007067464.1:n.2055C>A, NR_073026.1:n.910C>T, NR_073026.1:n.910C>G, NR_073026.1:n.910C>A, XM_047440281.1:c.754C>T, XM_047440281.1:c.754C>G, XM_047440281.1:c.754C>A, NP_060572.3:p.Leu252Phe, NP_060572.3:p.Leu252Val, NP_060572.3:p.Leu252Ile, NP_955473.1:p.Leu214Phe, NP_955473.1:p.Leu214Val, NP_955473.1:p.Leu214Ile, NP_001257426.1:p.Leu251Phe, NP_001257426.1:p.Leu251Val, NP_001257426.1:p.Leu251Ile, XP_016883426.1:p.Leu275Phe, XP_016883426.1:p.Leu275Val, XP_016883426.1:p.Leu275Ile, NP_001340748.1:p.Leu214Phe, NP_001340748.1:p.Leu214Val, NP_001340748.1:p.Leu214Ile, NP_001340751.1:p.Leu251Phe, NP_001340751.1:p.Leu251Val, NP_001340751.1:p.Leu251Ile, NP_001340755.1:p.Leu259Phe, NP_001340755.1:p.Leu259Val, NP_001340755.1:p.Leu259Ile, NP_001340752.1:p.Leu251Phe, NP_001340752.1:p.Leu251Val, NP_001340752.1:p.Leu251Ile, NP_001340753.1:p.Leu252Phe, NP_001340753.1:p.Leu252Val, NP_001340753.1:p.Leu252Ile, NP_001340749.1:p.Leu247Phe, NP_001340749.1:p.Leu247Val, NP_001340749.1:p.Leu247Ile, NP_001340743.1:p.Leu214Phe, NP_001340743.1:p.Leu214Val, NP_001340743.1:p.Leu214Ile, NP_001340754.1:p.Leu275Phe, NP_001340754.1:p.Leu275Val, NP_001340754.1:p.Leu275Ile, NP_001340747.1:p.Leu214Phe, NP_001340747.1:p.Leu214Val, NP_001340747.1:p.Leu214Ile, NP_001340750.1:p.Leu251Phe, NP_001340750.1:p.Leu251Val, NP_001340750.1:p.Leu251Ile, NP_001340746.1:p.Leu214Phe, NP_001340746.1:p.Leu214Val, NP_001340746.1:p.Leu214Ile, NP_001340742.1:p.Leu214Phe, NP_001340742.1:p.Leu214Val, NP_001340742.1:p.Leu214Ile, NP_001340744.1:p.Leu214Phe, NP_001340744.1:p.Leu214Val, NP_001340744.1:p.Leu214Ile, NP_001340745.1:p.Leu214Phe, NP_001340745.1:p.Leu214Val, NP_001340745.1:p.Leu214Ile, XP_047296239.1:p.Leu214Phe, XP_047296239.1:p.Leu214Val, XP_047296239.1:p.Leu214Ile, XP_047296236.1:p.Leu259Phe, XP_047296236.1:p.Leu259Val, XP_047296236.1:p.Leu259Ile, XP_047296235.1:p.Leu275Phe, XP_047296235.1:p.Leu275Val, XP_047296235.1:p.Leu275Ile, XP_047296238.1:p.Leu251Phe, XP_047296238.1:p.Leu251Val, XP_047296238.1:p.Leu251Ile, XP_047296240.1:p.Leu214Phe, XP_047296240.1:p.Leu214Val, XP_047296240.1:p.Leu214Ile, XP_047296237.1:p.Leu252Phe, XP_047296237.1:p.Leu252Val, XP_047296237.1:p.Leu252Ile

          5.

          rs1487142514 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:46502803 (GRCh38)
            20:45131442 (GRCh37)
            Canonical SPDI:
            NC_000020.11:46502802:T:C
            Gene:
            ZNF334 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.46502803T>C, NC_000020.10:g.45131442T>C, NM_018102.6:c.536A>G, NM_018102.5:c.536A>G, NM_018102.4:c.536A>G, NM_199441.3:c.422A>G, NM_199441.2:c.422A>G, NM_199441.1:c.422A>G, NM_001270497.3:c.533A>G, NM_001270497.2:c.533A>G, NM_001270497.1:c.533A>G, XM_017027937.2:c.605A>G, XM_017027937.1:c.605A>G, NM_001353819.2:c.422A>G, NM_001353819.1:c.422A>G, NM_001353822.2:c.533A>G, NM_001353822.1:c.533A>G, NM_001353826.2:c.557A>G, NM_001353826.1:c.557A>G, NM_001353823.2:c.533A>G, NM_001353823.1:c.533A>G, NM_001353824.2:c.536A>G, NM_001353824.1:c.536A>G, NM_001353820.2:c.521A>G, NM_001353820.1:c.521A>G, NM_001353814.2:c.422A>G, NM_001353814.1:c.422A>G, NM_001353825.2:c.605A>G, NM_001353825.1:c.605A>G, NM_001353818.2:c.422A>G, NM_001353818.1:c.422A>G, NM_001353821.2:c.533A>G, NM_001353821.1:c.533A>G, NM_001353817.2:c.422A>G, NM_001353817.1:c.422A>G, NM_001353813.2:c.422A>G, NM_001353813.1:c.422A>G, NM_001353815.2:c.422A>G, NM_001353815.1:c.422A>G, NM_001353816.2:c.422A>G, NM_001353816.1:c.422A>G, XM_047440283.1:c.422A>G, XM_047440280.1:c.557A>G, XM_047440279.1:c.605A>G, XM_047440282.1:c.533A>G, XM_047440284.1:c.422A>G, XR_007067464.1:n.1837A>G, NR_073026.1:n.692A>G, XM_047440281.1:c.536A>G, NP_060572.3:p.Lys179Arg, NP_955473.1:p.Lys141Arg, NP_001257426.1:p.Lys178Arg, XP_016883426.1:p.Lys202Arg, NP_001340748.1:p.Lys141Arg, NP_001340751.1:p.Lys178Arg, NP_001340755.1:p.Lys186Arg, NP_001340752.1:p.Lys178Arg, NP_001340753.1:p.Lys179Arg, NP_001340749.1:p.Lys174Arg, NP_001340743.1:p.Lys141Arg, NP_001340754.1:p.Lys202Arg, NP_001340747.1:p.Lys141Arg, NP_001340750.1:p.Lys178Arg, NP_001340746.1:p.Lys141Arg, NP_001340742.1:p.Lys141Arg, NP_001340744.1:p.Lys141Arg, NP_001340745.1:p.Lys141Arg, XP_047296239.1:p.Lys141Arg, XP_047296236.1:p.Lys186Arg, XP_047296235.1:p.Lys202Arg, XP_047296238.1:p.Lys178Arg, XP_047296240.1:p.Lys141Arg, XP_047296237.1:p.Lys179Arg

            6.

            rs1487041749 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              20:46502164 (GRCh38)
              20:45130803 (GRCh37)
              Canonical SPDI:
              NC_000020.11:46502163:A:G
              Gene:
              ZNF334 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (GnomAD_exomes)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000020.11:g.46502164A>G, NC_000020.10:g.45130803A>G, NM_018102.6:c.1175T>C, NM_018102.5:c.1175T>C, NM_018102.4:c.1175T>C, NM_199441.3:c.1061T>C, NM_199441.2:c.1061T>C, NM_199441.1:c.1061T>C, NM_001270497.3:c.1172T>C, NM_001270497.2:c.1172T>C, NM_001270497.1:c.1172T>C, XM_017027937.2:c.1244T>C, XM_017027937.1:c.1244T>C, NM_001353819.2:c.1061T>C, NM_001353819.1:c.1061T>C, NM_001353822.2:c.1172T>C, NM_001353822.1:c.1172T>C, NM_001353826.2:c.1196T>C, NM_001353826.1:c.1196T>C, NM_001353823.2:c.1172T>C, NM_001353823.1:c.1172T>C, NM_001353824.2:c.1175T>C, NM_001353824.1:c.1175T>C, NM_001353820.2:c.1160T>C, NM_001353820.1:c.1160T>C, NM_001353814.2:c.1061T>C, NM_001353814.1:c.1061T>C, NM_001353825.2:c.1244T>C, NM_001353825.1:c.1244T>C, NM_001353818.2:c.1061T>C, NM_001353818.1:c.1061T>C, NM_001353821.2:c.1172T>C, NM_001353821.1:c.1172T>C, NM_001353817.2:c.1061T>C, NM_001353817.1:c.1061T>C, NM_001353813.2:c.1061T>C, NM_001353813.1:c.1061T>C, NM_001353815.2:c.1061T>C, NM_001353815.1:c.1061T>C, NM_001353816.2:c.1061T>C, NM_001353816.1:c.1061T>C, XM_047440283.1:c.1061T>C, XM_047440280.1:c.1196T>C, XM_047440279.1:c.1244T>C, XM_047440282.1:c.1172T>C, XM_047440284.1:c.1061T>C, XR_007067464.1:n.2476T>C, NR_073026.1:n.1331T>C, XM_047440281.1:c.1175T>C, NP_060572.3:p.Leu392Pro, NP_955473.1:p.Leu354Pro, NP_001257426.1:p.Leu391Pro, XP_016883426.1:p.Leu415Pro, NP_001340748.1:p.Leu354Pro, NP_001340751.1:p.Leu391Pro, NP_001340755.1:p.Leu399Pro, NP_001340752.1:p.Leu391Pro, NP_001340753.1:p.Leu392Pro, NP_001340749.1:p.Leu387Pro, NP_001340743.1:p.Leu354Pro, NP_001340754.1:p.Leu415Pro, NP_001340747.1:p.Leu354Pro, NP_001340750.1:p.Leu391Pro, NP_001340746.1:p.Leu354Pro, NP_001340742.1:p.Leu354Pro, NP_001340744.1:p.Leu354Pro, NP_001340745.1:p.Leu354Pro, XP_047296239.1:p.Leu354Pro, XP_047296236.1:p.Leu399Pro, XP_047296235.1:p.Leu415Pro, XP_047296238.1:p.Leu391Pro, XP_047296240.1:p.Leu354Pro, XP_047296237.1:p.Leu392Pro

              7.

              rs1483917380 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                20:46502743 (GRCh38)
                20:45131382 (GRCh37)
                Canonical SPDI:
                NC_000020.11:46502742:T:C
                Gene:
                ZNF334 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.46502743T>C, NC_000020.10:g.45131382T>C, NM_018102.6:c.596A>G, NM_018102.5:c.596A>G, NM_018102.4:c.596A>G, NM_199441.3:c.482A>G, NM_199441.2:c.482A>G, NM_199441.1:c.482A>G, NM_001270497.3:c.593A>G, NM_001270497.2:c.593A>G, NM_001270497.1:c.593A>G, XM_017027937.2:c.665A>G, XM_017027937.1:c.665A>G, NM_001353819.2:c.482A>G, NM_001353819.1:c.482A>G, NM_001353822.2:c.593A>G, NM_001353822.1:c.593A>G, NM_001353826.2:c.617A>G, NM_001353826.1:c.617A>G, NM_001353823.2:c.593A>G, NM_001353823.1:c.593A>G, NM_001353824.2:c.596A>G, NM_001353824.1:c.596A>G, NM_001353820.2:c.581A>G, NM_001353820.1:c.581A>G, NM_001353814.2:c.482A>G, NM_001353814.1:c.482A>G, NM_001353825.2:c.665A>G, NM_001353825.1:c.665A>G, NM_001353818.2:c.482A>G, NM_001353818.1:c.482A>G, NM_001353821.2:c.593A>G, NM_001353821.1:c.593A>G, NM_001353817.2:c.482A>G, NM_001353817.1:c.482A>G, NM_001353813.2:c.482A>G, NM_001353813.1:c.482A>G, NM_001353815.2:c.482A>G, NM_001353815.1:c.482A>G, NM_001353816.2:c.482A>G, NM_001353816.1:c.482A>G, XM_047440283.1:c.482A>G, XM_047440280.1:c.617A>G, XM_047440279.1:c.665A>G, XM_047440282.1:c.593A>G, XM_047440284.1:c.482A>G, XR_007067464.1:n.1897A>G, NR_073026.1:n.752A>G, XM_047440281.1:c.596A>G, NP_060572.3:p.His199Arg, NP_955473.1:p.His161Arg, NP_001257426.1:p.His198Arg, XP_016883426.1:p.His222Arg, NP_001340748.1:p.His161Arg, NP_001340751.1:p.His198Arg, NP_001340755.1:p.His206Arg, NP_001340752.1:p.His198Arg, NP_001340753.1:p.His199Arg, NP_001340749.1:p.His194Arg, NP_001340743.1:p.His161Arg, NP_001340754.1:p.His222Arg, NP_001340747.1:p.His161Arg, NP_001340750.1:p.His198Arg, NP_001340746.1:p.His161Arg, NP_001340742.1:p.His161Arg, NP_001340744.1:p.His161Arg, NP_001340745.1:p.His161Arg, XP_047296239.1:p.His161Arg, XP_047296236.1:p.His206Arg, XP_047296235.1:p.His222Arg, XP_047296238.1:p.His198Arg, XP_047296240.1:p.His161Arg, XP_047296237.1:p.His199Arg

                8.

                rs1483832480 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CCT>- [Show Flanks]
                  Chromosome:
                  20:46501799 (GRCh38)
                  20:45130438 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:46501796:CTCCT:CT
                  Gene:
                  ZNF334 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CT=0./0 (ALFA)
                  -=0.000004/1 (GnomAD_exomes)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000020.11:g.46501799_46501801del, NC_000020.10:g.45130438_45130440del, NM_018102.6:c.1540_1542del, NM_018102.5:c.1540_1542del, NM_018102.4:c.1540_1542del, NM_199441.3:c.1426_1428del, NM_199441.2:c.1426_1428del, NM_199441.1:c.1426_1428del, NM_001270497.3:c.1537_1539del, NM_001270497.2:c.1537_1539del, NM_001270497.1:c.1537_1539del, XM_017027937.2:c.1609_1611del, XM_017027937.1:c.1609_1611del, NM_001353819.2:c.1426_1428del, NM_001353819.1:c.1426_1428del, NM_001353822.2:c.1537_1539del, NM_001353822.1:c.1537_1539del, NM_001353826.2:c.1561_1563del, NM_001353826.1:c.1561_1563del, NM_001353823.2:c.1537_1539del, NM_001353823.1:c.1537_1539del, NM_001353824.2:c.1540_1542del, NM_001353824.1:c.1540_1542del, NM_001353820.2:c.1525_1527del, NM_001353820.1:c.1525_1527del, NM_001353814.2:c.1426_1428del, NM_001353814.1:c.1426_1428del, NM_001353825.2:c.1609_1611del, NM_001353825.1:c.1609_1611del, NM_001353818.2:c.1426_1428del, NM_001353818.1:c.1426_1428del, NM_001353821.2:c.1537_1539del, NM_001353821.1:c.1537_1539del, NM_001353817.2:c.1426_1428del, NM_001353817.1:c.1426_1428del, NM_001353813.2:c.1426_1428del, NM_001353813.1:c.1426_1428del, NM_001353815.2:c.1426_1428del, NM_001353815.1:c.1426_1428del, NM_001353816.2:c.1426_1428del, NM_001353816.1:c.1426_1428del, XM_047440283.1:c.1426_1428del, XM_047440280.1:c.1561_1563del, XM_047440279.1:c.1609_1611del, XM_047440282.1:c.1537_1539del, XM_047440284.1:c.1426_1428del, XR_007067464.1:n.2841_2843del, NR_073026.1:n.1696_1698del, XM_047440281.1:c.1540_1542del, NP_060572.3:p.Glu514del, NP_955473.1:p.Glu476del, NP_001257426.1:p.Glu513del, XP_016883426.1:p.Glu537del, NP_001340748.1:p.Glu476del, NP_001340751.1:p.Glu513del, NP_001340755.1:p.Glu521del, NP_001340752.1:p.Glu513del, NP_001340753.1:p.Glu514del, NP_001340749.1:p.Glu509del, NP_001340743.1:p.Glu476del, NP_001340754.1:p.Glu537del, NP_001340747.1:p.Glu476del, NP_001340750.1:p.Glu513del, NP_001340746.1:p.Glu476del, NP_001340742.1:p.Glu476del, NP_001340744.1:p.Glu476del, NP_001340745.1:p.Glu476del, XP_047296239.1:p.Glu476del, XP_047296236.1:p.Glu521del, XP_047296235.1:p.Glu537del, XP_047296238.1:p.Glu513del, XP_047296240.1:p.Glu476del, XP_047296237.1:p.Glu514del

                  9.

                  rs1482666299 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:46502632 (GRCh38)
                    20:45131271 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:46502631:G:A
                    Gene:
                    ZNF334 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_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_000020.11:g.46502632G>A, NC_000020.10:g.45131271G>A, NM_018102.6:c.707C>T, NM_018102.5:c.707C>T, NM_018102.4:c.707C>T, NM_199441.3:c.593C>T, NM_199441.2:c.593C>T, NM_199441.1:c.593C>T, NM_001270497.3:c.704C>T, NM_001270497.2:c.704C>T, NM_001270497.1:c.704C>T, XM_017027937.2:c.776C>T, XM_017027937.1:c.776C>T, NM_001353819.2:c.593C>T, NM_001353819.1:c.593C>T, NM_001353822.2:c.704C>T, NM_001353822.1:c.704C>T, NM_001353826.2:c.728C>T, NM_001353826.1:c.728C>T, NM_001353823.2:c.704C>T, NM_001353823.1:c.704C>T, NM_001353824.2:c.707C>T, NM_001353824.1:c.707C>T, NM_001353820.2:c.692C>T, NM_001353820.1:c.692C>T, NM_001353814.2:c.593C>T, NM_001353814.1:c.593C>T, NM_001353825.2:c.776C>T, NM_001353825.1:c.776C>T, NM_001353818.2:c.593C>T, NM_001353818.1:c.593C>T, NM_001353821.2:c.704C>T, NM_001353821.1:c.704C>T, NM_001353817.2:c.593C>T, NM_001353817.1:c.593C>T, NM_001353813.2:c.593C>T, NM_001353813.1:c.593C>T, NM_001353815.2:c.593C>T, NM_001353815.1:c.593C>T, NM_001353816.2:c.593C>T, NM_001353816.1:c.593C>T, XM_047440283.1:c.593C>T, XM_047440280.1:c.728C>T, XM_047440279.1:c.776C>T, XM_047440282.1:c.704C>T, XM_047440284.1:c.593C>T, XR_007067464.1:n.2008C>T, NR_073026.1:n.863C>T, XM_047440281.1:c.707C>T, NP_060572.3:p.Pro236Leu, NP_955473.1:p.Pro198Leu, NP_001257426.1:p.Pro235Leu, XP_016883426.1:p.Pro259Leu, NP_001340748.1:p.Pro198Leu, NP_001340751.1:p.Pro235Leu, NP_001340755.1:p.Pro243Leu, NP_001340752.1:p.Pro235Leu, NP_001340753.1:p.Pro236Leu, NP_001340749.1:p.Pro231Leu, NP_001340743.1:p.Pro198Leu, NP_001340754.1:p.Pro259Leu, NP_001340747.1:p.Pro198Leu, NP_001340750.1:p.Pro235Leu, NP_001340746.1:p.Pro198Leu, NP_001340742.1:p.Pro198Leu, NP_001340744.1:p.Pro198Leu, NP_001340745.1:p.Pro198Leu, XP_047296239.1:p.Pro198Leu, XP_047296236.1:p.Pro243Leu, XP_047296235.1:p.Pro259Leu, XP_047296238.1:p.Pro235Leu, XP_047296240.1:p.Pro198Leu, XP_047296237.1:p.Pro236Leu

                    10.

                    rs1480703963 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      20:46501718 (GRCh38)
                      20:45130357 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:46501717:C:T
                      Gene:
                      ZNF334 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000020.11:g.46501718C>T, NC_000020.10:g.45130357C>T, NM_018102.6:c.1621G>A, NM_018102.5:c.1621G>A, NM_018102.4:c.1621G>A, NM_199441.3:c.1507G>A, NM_199441.2:c.1507G>A, NM_199441.1:c.1507G>A, NM_001270497.3:c.1618G>A, NM_001270497.2:c.1618G>A, NM_001270497.1:c.1618G>A, XM_017027937.2:c.1690G>A, XM_017027937.1:c.1690G>A, NM_001353819.2:c.1507G>A, NM_001353819.1:c.1507G>A, NM_001353822.2:c.1618G>A, NM_001353822.1:c.1618G>A, NM_001353826.2:c.1642G>A, NM_001353826.1:c.1642G>A, NM_001353823.2:c.1618G>A, NM_001353823.1:c.1618G>A, NM_001353824.2:c.1621G>A, NM_001353824.1:c.1621G>A, NM_001353820.2:c.1606G>A, NM_001353820.1:c.1606G>A, NM_001353814.2:c.1507G>A, NM_001353814.1:c.1507G>A, NM_001353825.2:c.1690G>A, NM_001353825.1:c.1690G>A, NM_001353818.2:c.1507G>A, NM_001353818.1:c.1507G>A, NM_001353821.2:c.1618G>A, NM_001353821.1:c.1618G>A, NM_001353817.2:c.1507G>A, NM_001353817.1:c.1507G>A, NM_001353813.2:c.1507G>A, NM_001353813.1:c.1507G>A, NM_001353815.2:c.1507G>A, NM_001353815.1:c.1507G>A, NM_001353816.2:c.1507G>A, NM_001353816.1:c.1507G>A, XM_047440283.1:c.1507G>A, XM_047440280.1:c.1642G>A, XM_047440279.1:c.1690G>A, XM_047440282.1:c.1618G>A, XM_047440284.1:c.1507G>A, XR_007067464.1:n.2922G>A, NR_073026.1:n.1777G>A, XM_047440281.1:c.1621G>A, NP_060572.3:p.Glu541Lys, NP_955473.1:p.Glu503Lys, NP_001257426.1:p.Glu540Lys, XP_016883426.1:p.Glu564Lys, NP_001340748.1:p.Glu503Lys, NP_001340751.1:p.Glu540Lys, NP_001340755.1:p.Glu548Lys, NP_001340752.1:p.Glu540Lys, NP_001340753.1:p.Glu541Lys, NP_001340749.1:p.Glu536Lys, NP_001340743.1:p.Glu503Lys, NP_001340754.1:p.Glu564Lys, NP_001340747.1:p.Glu503Lys, NP_001340750.1:p.Glu540Lys, NP_001340746.1:p.Glu503Lys, NP_001340742.1:p.Glu503Lys, NP_001340744.1:p.Glu503Lys, NP_001340745.1:p.Glu503Lys, XP_047296239.1:p.Glu503Lys, XP_047296236.1:p.Glu548Lys, XP_047296235.1:p.Glu564Lys, XP_047296238.1:p.Glu540Lys, XP_047296240.1:p.Glu503Lys, XP_047296237.1:p.Glu541Lys

                      11.

                      rs1479981404 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        20:46503091 (GRCh38)
                        20:45131730 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:46503090:T:A,NC_000020.11:46503090:T:C
                        Gene:
                        ZNF334 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000020.11:g.46503091T>A, NC_000020.11:g.46503091T>C, NC_000020.10:g.45131730T>A, NC_000020.10:g.45131730T>C, NM_018102.6:c.248A>T, NM_018102.6:c.248A>G, NM_018102.5:c.248A>T, NM_018102.5:c.248A>G, NM_018102.4:c.248A>T, NM_018102.4:c.248A>G, NM_199441.3:c.134A>T, NM_199441.3:c.134A>G, NM_199441.2:c.134A>T, NM_199441.2:c.134A>G, NM_199441.1:c.134A>T, NM_199441.1:c.134A>G, NM_001270497.3:c.245A>T, NM_001270497.3:c.245A>G, NM_001270497.2:c.245A>T, NM_001270497.2:c.245A>G, NM_001270497.1:c.245A>T, NM_001270497.1:c.245A>G, XM_017027937.2:c.317A>T, XM_017027937.2:c.317A>G, XM_017027937.1:c.317A>T, XM_017027937.1:c.317A>G, NM_001353819.2:c.134A>T, NM_001353819.2:c.134A>G, NM_001353819.1:c.134A>T, NM_001353819.1:c.134A>G, NM_001353822.2:c.245A>T, NM_001353822.2:c.245A>G, NM_001353822.1:c.245A>T, NM_001353822.1:c.245A>G, NM_001353826.2:c.269A>T, NM_001353826.2:c.269A>G, NM_001353826.1:c.269A>T, NM_001353826.1:c.269A>G, NM_001353823.2:c.245A>T, NM_001353823.2:c.245A>G, NM_001353823.1:c.245A>T, NM_001353823.1:c.245A>G, NM_001353824.2:c.248A>T, NM_001353824.2:c.248A>G, NM_001353824.1:c.248A>T, NM_001353824.1:c.248A>G, NM_001353820.2:c.233A>T, NM_001353820.2:c.233A>G, NM_001353820.1:c.233A>T, NM_001353820.1:c.233A>G, NM_001353814.2:c.134A>T, NM_001353814.2:c.134A>G, NM_001353814.1:c.134A>T, NM_001353814.1:c.134A>G, NM_001353825.2:c.317A>T, NM_001353825.2:c.317A>G, NM_001353825.1:c.317A>T, NM_001353825.1:c.317A>G, NM_001353818.2:c.134A>T, NM_001353818.2:c.134A>G, NM_001353818.1:c.134A>T, NM_001353818.1:c.134A>G, NM_001353821.2:c.245A>T, NM_001353821.2:c.245A>G, NM_001353821.1:c.245A>T, NM_001353821.1:c.245A>G, NM_001353817.2:c.134A>T, NM_001353817.2:c.134A>G, NM_001353817.1:c.134A>T, NM_001353817.1:c.134A>G, NM_001353813.2:c.134A>T, NM_001353813.2:c.134A>G, NM_001353813.1:c.134A>T, NM_001353813.1:c.134A>G, NM_001353815.2:c.134A>T, NM_001353815.2:c.134A>G, NM_001353815.1:c.134A>T, NM_001353815.1:c.134A>G, NM_001353816.2:c.134A>T, NM_001353816.2:c.134A>G, NM_001353816.1:c.134A>T, NM_001353816.1:c.134A>G, XM_047440283.1:c.134A>T, XM_047440283.1:c.134A>G, XM_047440280.1:c.269A>T, XM_047440280.1:c.269A>G, XM_047440279.1:c.317A>T, XM_047440279.1:c.317A>G, XM_047440282.1:c.245A>T, XM_047440282.1:c.245A>G, XM_047440284.1:c.134A>T, XM_047440284.1:c.134A>G, XR_007067464.1:n.1549A>T, XR_007067464.1:n.1549A>G, NR_073026.1:n.404A>T, NR_073026.1:n.404A>G, XM_047440281.1:c.248A>T, XM_047440281.1:c.248A>G, NP_060572.3:p.Asp83Val, NP_060572.3:p.Asp83Gly, NP_955473.1:p.Asp45Val, NP_955473.1:p.Asp45Gly, NP_001257426.1:p.Asp82Val, NP_001257426.1:p.Asp82Gly, XP_016883426.1:p.Asp106Val, XP_016883426.1:p.Asp106Gly, NP_001340748.1:p.Asp45Val, NP_001340748.1:p.Asp45Gly, NP_001340751.1:p.Asp82Val, NP_001340751.1:p.Asp82Gly, NP_001340755.1:p.Asp90Val, NP_001340755.1:p.Asp90Gly, NP_001340752.1:p.Asp82Val, NP_001340752.1:p.Asp82Gly, NP_001340753.1:p.Asp83Val, NP_001340753.1:p.Asp83Gly, NP_001340749.1:p.Asp78Val, NP_001340749.1:p.Asp78Gly, NP_001340743.1:p.Asp45Val, NP_001340743.1:p.Asp45Gly, NP_001340754.1:p.Asp106Val, NP_001340754.1:p.Asp106Gly, NP_001340747.1:p.Asp45Val, NP_001340747.1:p.Asp45Gly, NP_001340750.1:p.Asp82Val, NP_001340750.1:p.Asp82Gly, NP_001340746.1:p.Asp45Val, NP_001340746.1:p.Asp45Gly, NP_001340742.1:p.Asp45Val, NP_001340742.1:p.Asp45Gly, NP_001340744.1:p.Asp45Val, NP_001340744.1:p.Asp45Gly, NP_001340745.1:p.Asp45Val, NP_001340745.1:p.Asp45Gly, XP_047296239.1:p.Asp45Val, XP_047296239.1:p.Asp45Gly, XP_047296236.1:p.Asp90Val, XP_047296236.1:p.Asp90Gly, XP_047296235.1:p.Asp106Val, XP_047296235.1:p.Asp106Gly, XP_047296238.1:p.Asp82Val, XP_047296238.1:p.Asp82Gly, XP_047296240.1:p.Asp45Val, XP_047296240.1:p.Asp45Gly, XP_047296237.1:p.Asp83Val, XP_047296237.1:p.Asp83Gly

                        12.

                        rs1479198457 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          20:46502186 (GRCh38)
                          20:45130825 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:46502185:T:C
                          Gene:
                          ZNF334 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000020.11:g.46502186T>C, NC_000020.10:g.45130825T>C, NM_018102.6:c.1153A>G, NM_018102.5:c.1153A>G, NM_018102.4:c.1153A>G, NM_199441.3:c.1039A>G, NM_199441.2:c.1039A>G, NM_199441.1:c.1039A>G, NM_001270497.3:c.1150A>G, NM_001270497.2:c.1150A>G, NM_001270497.1:c.1150A>G, XM_017027937.2:c.1222A>G, XM_017027937.1:c.1222A>G, NM_001353819.2:c.1039A>G, NM_001353819.1:c.1039A>G, NM_001353822.2:c.1150A>G, NM_001353822.1:c.1150A>G, NM_001353826.2:c.1174A>G, NM_001353826.1:c.1174A>G, NM_001353823.2:c.1150A>G, NM_001353823.1:c.1150A>G, NM_001353824.2:c.1153A>G, NM_001353824.1:c.1153A>G, NM_001353820.2:c.1138A>G, NM_001353820.1:c.1138A>G, NM_001353814.2:c.1039A>G, NM_001353814.1:c.1039A>G, NM_001353825.2:c.1222A>G, NM_001353825.1:c.1222A>G, NM_001353818.2:c.1039A>G, NM_001353818.1:c.1039A>G, NM_001353821.2:c.1150A>G, NM_001353821.1:c.1150A>G, NM_001353817.2:c.1039A>G, NM_001353817.1:c.1039A>G, NM_001353813.2:c.1039A>G, NM_001353813.1:c.1039A>G, NM_001353815.2:c.1039A>G, NM_001353815.1:c.1039A>G, NM_001353816.2:c.1039A>G, NM_001353816.1:c.1039A>G, XM_047440283.1:c.1039A>G, XM_047440280.1:c.1174A>G, XM_047440279.1:c.1222A>G, XM_047440282.1:c.1150A>G, XM_047440284.1:c.1039A>G, XR_007067464.1:n.2454A>G, NR_073026.1:n.1309A>G, XM_047440281.1:c.1153A>G, NP_060572.3:p.Thr385Ala, NP_955473.1:p.Thr347Ala, NP_001257426.1:p.Thr384Ala, XP_016883426.1:p.Thr408Ala, NP_001340748.1:p.Thr347Ala, NP_001340751.1:p.Thr384Ala, NP_001340755.1:p.Thr392Ala, NP_001340752.1:p.Thr384Ala, NP_001340753.1:p.Thr385Ala, NP_001340749.1:p.Thr380Ala, NP_001340743.1:p.Thr347Ala, NP_001340754.1:p.Thr408Ala, NP_001340747.1:p.Thr347Ala, NP_001340750.1:p.Thr384Ala, NP_001340746.1:p.Thr347Ala, NP_001340742.1:p.Thr347Ala, NP_001340744.1:p.Thr347Ala, NP_001340745.1:p.Thr347Ala, XP_047296239.1:p.Thr347Ala, XP_047296236.1:p.Thr392Ala, XP_047296235.1:p.Thr408Ala, XP_047296238.1:p.Thr384Ala, XP_047296240.1:p.Thr347Ala, XP_047296237.1:p.Thr385Ala

                          13.

                          rs1477112234 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            20:46501992 (GRCh38)
                            20:45130631 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:46501991:A:T
                            Gene:
                            ZNF334 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000020.11:g.46501992A>T, NC_000020.10:g.45130631A>T, NM_018102.6:c.1347T>A, NM_018102.5:c.1347T>A, NM_018102.4:c.1347T>A, NM_199441.3:c.1233T>A, NM_199441.2:c.1233T>A, NM_199441.1:c.1233T>A, NM_001270497.3:c.1344T>A, NM_001270497.2:c.1344T>A, NM_001270497.1:c.1344T>A, XM_017027937.2:c.1416T>A, XM_017027937.1:c.1416T>A, NM_001353819.2:c.1233T>A, NM_001353819.1:c.1233T>A, NM_001353822.2:c.1344T>A, NM_001353822.1:c.1344T>A, NM_001353826.2:c.1368T>A, NM_001353826.1:c.1368T>A, NM_001353823.2:c.1344T>A, NM_001353823.1:c.1344T>A, NM_001353824.2:c.1347T>A, NM_001353824.1:c.1347T>A, NM_001353820.2:c.1332T>A, NM_001353820.1:c.1332T>A, NM_001353814.2:c.1233T>A, NM_001353814.1:c.1233T>A, NM_001353825.2:c.1416T>A, NM_001353825.1:c.1416T>A, NM_001353818.2:c.1233T>A, NM_001353818.1:c.1233T>A, NM_001353821.2:c.1344T>A, NM_001353821.1:c.1344T>A, NM_001353817.2:c.1233T>A, NM_001353817.1:c.1233T>A, NM_001353813.2:c.1233T>A, NM_001353813.1:c.1233T>A, NM_001353815.2:c.1233T>A, NM_001353815.1:c.1233T>A, NM_001353816.2:c.1233T>A, NM_001353816.1:c.1233T>A, XM_047440283.1:c.1233T>A, XM_047440280.1:c.1368T>A, XM_047440279.1:c.1416T>A, XM_047440282.1:c.1344T>A, XM_047440284.1:c.1233T>A, XR_007067464.1:n.2648T>A, NR_073026.1:n.1503T>A, XM_047440281.1:c.1347T>A

                            14.

                            rs1476541308 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              20:46502106 (GRCh38)
                              20:45130745 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:46502105:C:T
                              Gene:
                              ZNF334 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000020.11:g.46502106C>T, NC_000020.10:g.45130745C>T, NM_018102.6:c.1233G>A, NM_018102.5:c.1233G>A, NM_018102.4:c.1233G>A, NM_199441.3:c.1119G>A, NM_199441.2:c.1119G>A, NM_199441.1:c.1119G>A, NM_001270497.3:c.1230G>A, NM_001270497.2:c.1230G>A, NM_001270497.1:c.1230G>A, XM_017027937.2:c.1302G>A, XM_017027937.1:c.1302G>A, NM_001353819.2:c.1119G>A, NM_001353819.1:c.1119G>A, NM_001353822.2:c.1230G>A, NM_001353822.1:c.1230G>A, NM_001353826.2:c.1254G>A, NM_001353826.1:c.1254G>A, NM_001353823.2:c.1230G>A, NM_001353823.1:c.1230G>A, NM_001353824.2:c.1233G>A, NM_001353824.1:c.1233G>A, NM_001353820.2:c.1218G>A, NM_001353820.1:c.1218G>A, NM_001353814.2:c.1119G>A, NM_001353814.1:c.1119G>A, NM_001353825.2:c.1302G>A, NM_001353825.1:c.1302G>A, NM_001353818.2:c.1119G>A, NM_001353818.1:c.1119G>A, NM_001353821.2:c.1230G>A, NM_001353821.1:c.1230G>A, NM_001353817.2:c.1119G>A, NM_001353817.1:c.1119G>A, NM_001353813.2:c.1119G>A, NM_001353813.1:c.1119G>A, NM_001353815.2:c.1119G>A, NM_001353815.1:c.1119G>A, NM_001353816.2:c.1119G>A, NM_001353816.1:c.1119G>A, XM_047440283.1:c.1119G>A, XM_047440280.1:c.1254G>A, XM_047440279.1:c.1302G>A, XM_047440282.1:c.1230G>A, XM_047440284.1:c.1119G>A, XR_007067464.1:n.2534G>A, NR_073026.1:n.1389G>A, XM_047440281.1:c.1233G>A

                              15.

                              rs1475918377 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                20:46502813 (GRCh38)
                                20:45131452 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:46502812:A:C
                                Gene:
                                ZNF334 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000020.11:g.46502813A>C, NC_000020.10:g.45131452A>C, NM_018102.6:c.526T>G, NM_018102.5:c.526T>G, NM_018102.4:c.526T>G, NM_199441.3:c.412T>G, NM_199441.2:c.412T>G, NM_199441.1:c.412T>G, NM_001270497.3:c.523T>G, NM_001270497.2:c.523T>G, NM_001270497.1:c.523T>G, XM_017027937.2:c.595T>G, XM_017027937.1:c.595T>G, NM_001353819.2:c.412T>G, NM_001353819.1:c.412T>G, NM_001353822.2:c.523T>G, NM_001353822.1:c.523T>G, NM_001353826.2:c.547T>G, NM_001353826.1:c.547T>G, NM_001353823.2:c.523T>G, NM_001353823.1:c.523T>G, NM_001353824.2:c.526T>G, NM_001353824.1:c.526T>G, NM_001353820.2:c.511T>G, NM_001353820.1:c.511T>G, NM_001353814.2:c.412T>G, NM_001353814.1:c.412T>G, NM_001353825.2:c.595T>G, NM_001353825.1:c.595T>G, NM_001353818.2:c.412T>G, NM_001353818.1:c.412T>G, NM_001353821.2:c.523T>G, NM_001353821.1:c.523T>G, NM_001353817.2:c.412T>G, NM_001353817.1:c.412T>G, NM_001353813.2:c.412T>G, NM_001353813.1:c.412T>G, NM_001353815.2:c.412T>G, NM_001353815.1:c.412T>G, NM_001353816.2:c.412T>G, NM_001353816.1:c.412T>G, XM_047440283.1:c.412T>G, XM_047440280.1:c.547T>G, XM_047440279.1:c.595T>G, XM_047440282.1:c.523T>G, XM_047440284.1:c.412T>G, XR_007067464.1:n.1827T>G, NR_073026.1:n.682T>G, XM_047440281.1:c.526T>G, NP_060572.3:p.Leu176Val, NP_955473.1:p.Leu138Val, NP_001257426.1:p.Leu175Val, XP_016883426.1:p.Leu199Val, NP_001340748.1:p.Leu138Val, NP_001340751.1:p.Leu175Val, NP_001340755.1:p.Leu183Val, NP_001340752.1:p.Leu175Val, NP_001340753.1:p.Leu176Val, NP_001340749.1:p.Leu171Val, NP_001340743.1:p.Leu138Val, NP_001340754.1:p.Leu199Val, NP_001340747.1:p.Leu138Val, NP_001340750.1:p.Leu175Val, NP_001340746.1:p.Leu138Val, NP_001340742.1:p.Leu138Val, NP_001340744.1:p.Leu138Val, NP_001340745.1:p.Leu138Val, XP_047296239.1:p.Leu138Val, XP_047296236.1:p.Leu183Val, XP_047296235.1:p.Leu199Val, XP_047296238.1:p.Leu175Val, XP_047296240.1:p.Leu138Val, XP_047296237.1:p.Leu176Val

                                16.

                                rs1475696816 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:46502356 (GRCh38)
                                  20:45130995 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:46502355:T:C
                                  Gene:
                                  ZNF334 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000051/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.46502356T>C, NC_000020.10:g.45130995T>C, NM_018102.6:c.983A>G, NM_018102.5:c.983A>G, NM_018102.4:c.983A>G, NM_199441.3:c.869A>G, NM_199441.2:c.869A>G, NM_199441.1:c.869A>G, NM_001270497.3:c.980A>G, NM_001270497.2:c.980A>G, NM_001270497.1:c.980A>G, XM_017027937.2:c.1052A>G, XM_017027937.1:c.1052A>G, NM_001353819.2:c.869A>G, NM_001353819.1:c.869A>G, NM_001353822.2:c.980A>G, NM_001353822.1:c.980A>G, NM_001353826.2:c.1004A>G, NM_001353826.1:c.1004A>G, NM_001353823.2:c.980A>G, NM_001353823.1:c.980A>G, NM_001353824.2:c.983A>G, NM_001353824.1:c.983A>G, NM_001353820.2:c.968A>G, NM_001353820.1:c.968A>G, NM_001353814.2:c.869A>G, NM_001353814.1:c.869A>G, NM_001353825.2:c.1052A>G, NM_001353825.1:c.1052A>G, NM_001353818.2:c.869A>G, NM_001353818.1:c.869A>G, NM_001353821.2:c.980A>G, NM_001353821.1:c.980A>G, NM_001353817.2:c.869A>G, NM_001353817.1:c.869A>G, NM_001353813.2:c.869A>G, NM_001353813.1:c.869A>G, NM_001353815.2:c.869A>G, NM_001353815.1:c.869A>G, NM_001353816.2:c.869A>G, NM_001353816.1:c.869A>G, XM_047440283.1:c.869A>G, XM_047440280.1:c.1004A>G, XM_047440279.1:c.1052A>G, XM_047440282.1:c.980A>G, XM_047440284.1:c.869A>G, XR_007067464.1:n.2284A>G, NR_073026.1:n.1139A>G, XM_047440281.1:c.983A>G, NP_060572.3:p.Lys328Arg, NP_955473.1:p.Lys290Arg, NP_001257426.1:p.Lys327Arg, XP_016883426.1:p.Lys351Arg, NP_001340748.1:p.Lys290Arg, NP_001340751.1:p.Lys327Arg, NP_001340755.1:p.Lys335Arg, NP_001340752.1:p.Lys327Arg, NP_001340753.1:p.Lys328Arg, NP_001340749.1:p.Lys323Arg, NP_001340743.1:p.Lys290Arg, NP_001340754.1:p.Lys351Arg, NP_001340747.1:p.Lys290Arg, NP_001340750.1:p.Lys327Arg, NP_001340746.1:p.Lys290Arg, NP_001340742.1:p.Lys290Arg, NP_001340744.1:p.Lys290Arg, NP_001340745.1:p.Lys290Arg, XP_047296239.1:p.Lys290Arg, XP_047296236.1:p.Lys335Arg, XP_047296235.1:p.Lys351Arg, XP_047296238.1:p.Lys327Arg, XP_047296240.1:p.Lys290Arg, XP_047296237.1:p.Lys328Arg

                                  17.

                                  rs1474935397 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    20:46502132 (GRCh38)
                                    20:45130771 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:46502131:T:C
                                    Gene:
                                    ZNF334 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000020.11:g.46502132T>C, NC_000020.10:g.45130771T>C, NM_018102.6:c.1207A>G, NM_018102.5:c.1207A>G, NM_018102.4:c.1207A>G, NM_199441.3:c.1093A>G, NM_199441.2:c.1093A>G, NM_199441.1:c.1093A>G, NM_001270497.3:c.1204A>G, NM_001270497.2:c.1204A>G, NM_001270497.1:c.1204A>G, XM_017027937.2:c.1276A>G, XM_017027937.1:c.1276A>G, NM_001353819.2:c.1093A>G, NM_001353819.1:c.1093A>G, NM_001353822.2:c.1204A>G, NM_001353822.1:c.1204A>G, NM_001353826.2:c.1228A>G, NM_001353826.1:c.1228A>G, NM_001353823.2:c.1204A>G, NM_001353823.1:c.1204A>G, NM_001353824.2:c.1207A>G, NM_001353824.1:c.1207A>G, NM_001353820.2:c.1192A>G, NM_001353820.1:c.1192A>G, NM_001353814.2:c.1093A>G, NM_001353814.1:c.1093A>G, NM_001353825.2:c.1276A>G, NM_001353825.1:c.1276A>G, NM_001353818.2:c.1093A>G, NM_001353818.1:c.1093A>G, NM_001353821.2:c.1204A>G, NM_001353821.1:c.1204A>G, NM_001353817.2:c.1093A>G, NM_001353817.1:c.1093A>G, NM_001353813.2:c.1093A>G, NM_001353813.1:c.1093A>G, NM_001353815.2:c.1093A>G, NM_001353815.1:c.1093A>G, NM_001353816.2:c.1093A>G, NM_001353816.1:c.1093A>G, XM_047440283.1:c.1093A>G, XM_047440280.1:c.1228A>G, XM_047440279.1:c.1276A>G, XM_047440282.1:c.1204A>G, XM_047440284.1:c.1093A>G, XR_007067464.1:n.2508A>G, NR_073026.1:n.1363A>G, XM_047440281.1:c.1207A>G, NP_060572.3:p.Lys403Glu, NP_955473.1:p.Lys365Glu, NP_001257426.1:p.Lys402Glu, XP_016883426.1:p.Lys426Glu, NP_001340748.1:p.Lys365Glu, NP_001340751.1:p.Lys402Glu, NP_001340755.1:p.Lys410Glu, NP_001340752.1:p.Lys402Glu, NP_001340753.1:p.Lys403Glu, NP_001340749.1:p.Lys398Glu, NP_001340743.1:p.Lys365Glu, NP_001340754.1:p.Lys426Glu, NP_001340747.1:p.Lys365Glu, NP_001340750.1:p.Lys402Glu, NP_001340746.1:p.Lys365Glu, NP_001340742.1:p.Lys365Glu, NP_001340744.1:p.Lys365Glu, NP_001340745.1:p.Lys365Glu, XP_047296239.1:p.Lys365Glu, XP_047296236.1:p.Lys410Glu, XP_047296235.1:p.Lys426Glu, XP_047296238.1:p.Lys402Glu, XP_047296240.1:p.Lys365Glu, XP_047296237.1:p.Lys403Glu

                                    18.

                                    rs1474544029 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      20:46504242 (GRCh38)
                                      20:45132881 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:46504241:C:G
                                      Gene:
                                      ZNF334 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000020.11:g.46504242C>G, NC_000020.10:g.45132881C>G, NM_018102.6:c.213G>C, NM_018102.5:c.213G>C, NM_018102.4:c.213G>C, NM_199441.3:c.99G>C, NM_199441.2:c.99G>C, NM_199441.1:c.99G>C, NM_001270497.3:c.210G>C, NM_001270497.2:c.210G>C, NM_001270497.1:c.210G>C, XM_017027937.2:c.282G>C, XM_017027937.1:c.282G>C, NM_001353819.2:c.99G>C, NM_001353819.1:c.99G>C, NM_001353822.2:c.210G>C, NM_001353822.1:c.210G>C, NM_001353826.2:c.234G>C, NM_001353826.1:c.234G>C, NM_001353823.2:c.210G>C, NM_001353823.1:c.210G>C, NM_001353824.2:c.213G>C, NM_001353824.1:c.213G>C, NM_001353820.2:c.198G>C, NM_001353820.1:c.198G>C, NM_001353814.2:c.99G>C, NM_001353814.1:c.99G>C, NM_001353825.2:c.282G>C, NM_001353825.1:c.282G>C, NM_001353818.2:c.99G>C, NM_001353818.1:c.99G>C, NM_001353821.2:c.210G>C, NM_001353821.1:c.210G>C, NM_001353817.2:c.99G>C, NM_001353817.1:c.99G>C, NM_001353813.2:c.99G>C, NM_001353813.1:c.99G>C, NM_001353815.2:c.99G>C, NM_001353815.1:c.99G>C, NM_001353816.2:c.99G>C, NM_001353816.1:c.99G>C, XM_047440283.1:c.99G>C, XM_047440280.1:c.234G>C, XM_047440279.1:c.282G>C, XM_047440282.1:c.210G>C, XM_047440284.1:c.99G>C, XR_007067464.1:n.1514G>C, NR_073026.1:n.369G>C, XM_047440281.1:c.213G>C

                                      19.

                                      rs1472614582 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:46503017 (GRCh38)
                                        20:45131656 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:46503016:G:A
                                        Gene:
                                        ZNF334 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000020.11:g.46503017G>A, NC_000020.10:g.45131656G>A, NM_018102.6:c.322C>T, NM_018102.5:c.322C>T, NM_018102.4:c.322C>T, NM_199441.3:c.208C>T, NM_199441.2:c.208C>T, NM_199441.1:c.208C>T, NM_001270497.3:c.319C>T, NM_001270497.2:c.319C>T, NM_001270497.1:c.319C>T, XM_017027937.2:c.391C>T, XM_017027937.1:c.391C>T, NM_001353819.2:c.208C>T, NM_001353819.1:c.208C>T, NM_001353822.2:c.319C>T, NM_001353822.1:c.319C>T, NM_001353826.2:c.343C>T, NM_001353826.1:c.343C>T, NM_001353823.2:c.319C>T, NM_001353823.1:c.319C>T, NM_001353824.2:c.322C>T, NM_001353824.1:c.322C>T, NM_001353820.2:c.307C>T, NM_001353820.1:c.307C>T, NM_001353814.2:c.208C>T, NM_001353814.1:c.208C>T, NM_001353825.2:c.391C>T, NM_001353825.1:c.391C>T, NM_001353818.2:c.208C>T, NM_001353818.1:c.208C>T, NM_001353821.2:c.319C>T, NM_001353821.1:c.319C>T, NM_001353817.2:c.208C>T, NM_001353817.1:c.208C>T, NM_001353813.2:c.208C>T, NM_001353813.1:c.208C>T, NM_001353815.2:c.208C>T, NM_001353815.1:c.208C>T, NM_001353816.2:c.208C>T, NM_001353816.1:c.208C>T, XM_047440283.1:c.208C>T, XM_047440280.1:c.343C>T, XM_047440279.1:c.391C>T, XM_047440282.1:c.319C>T, XM_047440284.1:c.208C>T, XR_007067464.1:n.1623C>T, NR_073026.1:n.478C>T, XM_047440281.1:c.322C>T

                                        20.

                                        rs1470652105 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          20:46502017 (GRCh38)
                                          20:45130656 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:46502016:A:G
                                          Gene:
                                          ZNF334 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.46502017A>G, NC_000020.10:g.45130656A>G, NM_018102.6:c.1322T>C, NM_018102.5:c.1322T>C, NM_018102.4:c.1322T>C, NM_199441.3:c.1208T>C, NM_199441.2:c.1208T>C, NM_199441.1:c.1208T>C, NM_001270497.3:c.1319T>C, NM_001270497.2:c.1319T>C, NM_001270497.1:c.1319T>C, XM_017027937.2:c.1391T>C, XM_017027937.1:c.1391T>C, NM_001353819.2:c.1208T>C, NM_001353819.1:c.1208T>C, NM_001353822.2:c.1319T>C, NM_001353822.1:c.1319T>C, NM_001353826.2:c.1343T>C, NM_001353826.1:c.1343T>C, NM_001353823.2:c.1319T>C, NM_001353823.1:c.1319T>C, NM_001353824.2:c.1322T>C, NM_001353824.1:c.1322T>C, NM_001353820.2:c.1307T>C, NM_001353820.1:c.1307T>C, NM_001353814.2:c.1208T>C, NM_001353814.1:c.1208T>C, NM_001353825.2:c.1391T>C, NM_001353825.1:c.1391T>C, NM_001353818.2:c.1208T>C, NM_001353818.1:c.1208T>C, NM_001353821.2:c.1319T>C, NM_001353821.1:c.1319T>C, NM_001353817.2:c.1208T>C, NM_001353817.1:c.1208T>C, NM_001353813.2:c.1208T>C, NM_001353813.1:c.1208T>C, NM_001353815.2:c.1208T>C, NM_001353815.1:c.1208T>C, NM_001353816.2:c.1208T>C, NM_001353816.1:c.1208T>C, XM_047440283.1:c.1208T>C, XM_047440280.1:c.1343T>C, XM_047440279.1:c.1391T>C, XM_047440282.1:c.1319T>C, XM_047440284.1:c.1208T>C, XR_007067464.1:n.2623T>C, NR_073026.1:n.1478T>C, XM_047440281.1:c.1322T>C, NP_060572.3:p.Phe441Ser, NP_955473.1:p.Phe403Ser, NP_001257426.1:p.Phe440Ser, XP_016883426.1:p.Phe464Ser, NP_001340748.1:p.Phe403Ser, NP_001340751.1:p.Phe440Ser, NP_001340755.1:p.Phe448Ser, NP_001340752.1:p.Phe440Ser, NP_001340753.1:p.Phe441Ser, NP_001340749.1:p.Phe436Ser, NP_001340743.1:p.Phe403Ser, NP_001340754.1:p.Phe464Ser, NP_001340747.1:p.Phe403Ser, NP_001340750.1:p.Phe440Ser, NP_001340746.1:p.Phe403Ser, NP_001340742.1:p.Phe403Ser, NP_001340744.1:p.Phe403Ser, NP_001340745.1:p.Phe403Ser, XP_047296239.1:p.Phe403Ser, XP_047296236.1:p.Phe448Ser, XP_047296235.1:p.Phe464Ser, XP_047296238.1:p.Phe440Ser, XP_047296240.1:p.Phe403Ser, XP_047296237.1:p.Phe441Ser

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