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Items: 1 to 20 of 708

1.

rs1490863601 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:53070104 (GRCh38)
    19:53573357 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53070103:G:A
    Gene:
    ZNF160 (Varview)
    Functional Consequence:
    stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.53070104G>A, NC_000019.9:g.53573357G>A, NM_033288.4:c.430C>T, NM_033288.3:c.430C>T, NM_198893.3:c.430C>T, NM_198893.2:c.430C>T, NM_001322130.2:c.430C>T, NM_001322130.1:c.430C>T, NM_001322139.2:c.322C>T, NM_001322139.1:c.322C>T, NM_001322131.2:c.430C>T, NM_001322131.1:c.430C>T, NM_001322129.2:c.430C>T, NM_001322129.1:c.430C>T, NM_001322137.2:c.322C>T, NM_001322137.1:c.322C>T, NM_001322134.2:c.430C>T, NM_001322134.1:c.430C>T, NM_001322133.2:c.430C>T, NM_001322133.1:c.430C>T, NM_001322128.2:c.430C>T, NM_001322128.1:c.430C>T, NM_001102603.2:c.430C>T, NM_001102603.1:c.430C>T, NM_001322132.2:c.430C>T, NM_001322132.1:c.430C>T, NM_001322138.2:c.322C>T, NM_001322138.1:c.322C>T, NM_001322135.2:c.430C>T, NM_001322135.1:c.430C>T, XM_047439624.1:c.487C>T, XM_047439617.1:c.487C>T, XM_047439619.1:c.430C>T, XM_047439623.1:c.430C>T, XM_047439627.1:c.322C>T, XM_047439641.1:c.322C>T, XM_047439626.1:c.322C>T, XM_047439625.1:c.322C>T, XM_047439630.1:c.322C>T, XM_047439629.1:c.322C>T, XM_047439631.1:c.322C>T, XM_047439632.1:c.322C>T, XM_047439637.1:c.322C>T, XM_047439636.1:c.322C>T, XM_047439628.1:c.322C>T, XM_047439635.1:c.322C>T, XM_047439638.1:c.322C>T, XM_047439633.1:c.322C>T, XM_047439620.1:c.430C>T, XM_047439634.1:c.322C>T, XM_047439618.1:c.430C>T, XM_047439622.1:c.430C>T, XM_047439621.1:c.430C>T, XM_047439639.1:c.322C>T, XM_047439640.1:c.322C>T, XM_047439642.1:c.322C>T, XM_047439616.1:c.430C>T, NM_001322136.1:c.430C>T, NP_150630.2:p.Gln144Ter, NP_942596.1:p.Gln144Ter, NP_001309059.1:p.Gln144Ter, NP_001309068.1:p.Gln108Ter, NP_001309060.1:p.Gln144Ter, NP_001309058.1:p.Gln144Ter, NP_001309066.1:p.Gln108Ter, NP_001309063.1:p.Gln144Ter, NP_001309062.1:p.Gln144Ter, NP_001309057.1:p.Gln144Ter, NP_001096073.1:p.Gln144Ter, NP_001309061.1:p.Gln144Ter, NP_001309067.1:p.Gln108Ter, NP_001309064.1:p.Gln144Ter, XP_047295580.1:p.Gln163Ter, XP_047295573.1:p.Gln163Ter, XP_047295575.1:p.Gln144Ter, XP_047295579.1:p.Gln144Ter, XP_047295583.1:p.Gln108Ter, XP_047295597.1:p.Gln108Ter, XP_047295582.1:p.Gln108Ter, XP_047295581.1:p.Gln108Ter, XP_047295586.1:p.Gln108Ter, XP_047295585.1:p.Gln108Ter, XP_047295587.1:p.Gln108Ter, XP_047295588.1:p.Gln108Ter, XP_047295593.1:p.Gln108Ter, XP_047295592.1:p.Gln108Ter, XP_047295584.1:p.Gln108Ter, XP_047295591.1:p.Gln108Ter, XP_047295594.1:p.Gln108Ter, XP_047295589.1:p.Gln108Ter, XP_047295576.1:p.Gln144Ter, XP_047295590.1:p.Gln108Ter, XP_047295574.1:p.Gln144Ter, XP_047295578.1:p.Gln144Ter, XP_047295577.1:p.Gln144Ter, XP_047295595.1:p.Gln108Ter, XP_047295596.1:p.Gln108Ter, XP_047295598.1:p.Gln108Ter, XP_047295572.1:p.Gln144Ter, NP_001309065.1:p.Gln144Ter

    2.

    rs1490019291 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:53069342 (GRCh38)
      19:53572595 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53069341:T:C
      Gene:
      ZNF160 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.53069342T>C, NC_000019.9:g.53572595T>C, NM_033288.4:c.1192A>G, NM_033288.3:c.1192A>G, NM_198893.3:c.1192A>G, NM_198893.2:c.1192A>G, NM_001322130.2:c.1192A>G, NM_001322130.1:c.1192A>G, NM_001322139.2:c.1084A>G, NM_001322139.1:c.1084A>G, NM_001322131.2:c.1192A>G, NM_001322131.1:c.1192A>G, NM_001322129.2:c.1192A>G, NM_001322129.1:c.1192A>G, NM_001322137.2:c.1084A>G, NM_001322137.1:c.1084A>G, NM_001322134.2:c.1192A>G, NM_001322134.1:c.1192A>G, NM_001322133.2:c.1192A>G, NM_001322133.1:c.1192A>G, NM_001322128.2:c.1192A>G, NM_001322128.1:c.1192A>G, NM_001102603.2:c.1192A>G, NM_001102603.1:c.1192A>G, NM_001322132.2:c.1192A>G, NM_001322132.1:c.1192A>G, NM_001322138.2:c.1084A>G, NM_001322138.1:c.1084A>G, NM_001322135.2:c.1192A>G, NM_001322135.1:c.1192A>G, XM_047439624.1:c.1249A>G, XM_047439617.1:c.1249A>G, XM_047439619.1:c.1192A>G, XM_047439623.1:c.1192A>G, XM_047439627.1:c.1084A>G, XM_047439641.1:c.1084A>G, XM_047439626.1:c.1084A>G, XM_047439625.1:c.1084A>G, XM_047439630.1:c.1084A>G, XM_047439629.1:c.1084A>G, XM_047439631.1:c.1084A>G, XM_047439632.1:c.1084A>G, XM_047439637.1:c.1084A>G, XM_047439636.1:c.1084A>G, XM_047439628.1:c.1084A>G, XM_047439635.1:c.1084A>G, XM_047439638.1:c.1084A>G, XM_047439633.1:c.1084A>G, XM_047439620.1:c.1192A>G, XM_047439634.1:c.1084A>G, XM_047439618.1:c.1192A>G, XM_047439622.1:c.1192A>G, XM_047439621.1:c.1192A>G, XM_047439639.1:c.1084A>G, XM_047439640.1:c.1084A>G, XM_047439642.1:c.1084A>G, XM_047439616.1:c.1192A>G, NM_001322136.1:c.1192A>G, NP_150630.2:p.Lys398Glu, NP_942596.1:p.Lys398Glu, NP_001309059.1:p.Lys398Glu, NP_001309068.1:p.Lys362Glu, NP_001309060.1:p.Lys398Glu, NP_001309058.1:p.Lys398Glu, NP_001309066.1:p.Lys362Glu, NP_001309063.1:p.Lys398Glu, NP_001309062.1:p.Lys398Glu, NP_001309057.1:p.Lys398Glu, NP_001096073.1:p.Lys398Glu, NP_001309061.1:p.Lys398Glu, NP_001309067.1:p.Lys362Glu, NP_001309064.1:p.Lys398Glu, XP_047295580.1:p.Lys417Glu, XP_047295573.1:p.Lys417Glu, XP_047295575.1:p.Lys398Glu, XP_047295579.1:p.Lys398Glu, XP_047295583.1:p.Lys362Glu, XP_047295597.1:p.Lys362Glu, XP_047295582.1:p.Lys362Glu, XP_047295581.1:p.Lys362Glu, XP_047295586.1:p.Lys362Glu, XP_047295585.1:p.Lys362Glu, XP_047295587.1:p.Lys362Glu, XP_047295588.1:p.Lys362Glu, XP_047295593.1:p.Lys362Glu, XP_047295592.1:p.Lys362Glu, XP_047295584.1:p.Lys362Glu, XP_047295591.1:p.Lys362Glu, XP_047295594.1:p.Lys362Glu, XP_047295589.1:p.Lys362Glu, XP_047295576.1:p.Lys398Glu, XP_047295590.1:p.Lys362Glu, XP_047295574.1:p.Lys398Glu, XP_047295578.1:p.Lys398Glu, XP_047295577.1:p.Lys398Glu, XP_047295595.1:p.Lys362Glu, XP_047295596.1:p.Lys362Glu, XP_047295598.1:p.Lys362Glu, XP_047295572.1:p.Lys398Glu, NP_001309065.1:p.Lys398Glu

      3.

      rs1489952410 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        19:53068381 (GRCh38)
        19:53571634 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53068380:GA:
        Gene:
        ZNF160 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.53068381_53068382del, NC_000019.9:g.53571634_53571635del, NM_033288.4:c.2152_2153del, NM_033288.3:c.2152_2153del, NM_198893.3:c.2152_2153del, NM_198893.2:c.2152_2153del, NM_001322130.2:c.2152_2153del, NM_001322130.1:c.2152_2153del, NM_001322139.2:c.2044_2045del, NM_001322139.1:c.2044_2045del, NM_001322131.2:c.2152_2153del, NM_001322131.1:c.2152_2153del, NM_001322129.2:c.2152_2153del, NM_001322129.1:c.2152_2153del, NM_001322137.2:c.2044_2045del, NM_001322137.1:c.2044_2045del, NM_001322134.2:c.2152_2153del, NM_001322134.1:c.2152_2153del, NM_001322133.2:c.2152_2153del, NM_001322133.1:c.2152_2153del, NM_001322128.2:c.2152_2153del, NM_001322128.1:c.2152_2153del, NM_001102603.2:c.2152_2153del, NM_001102603.1:c.2152_2153del, NM_001322132.2:c.2152_2153del, NM_001322132.1:c.2152_2153del, NM_001322138.2:c.2044_2045del, NM_001322138.1:c.2044_2045del, NM_001322135.2:c.2152_2153del, NM_001322135.1:c.2152_2153del, XM_047439624.1:c.2209_2210del, XM_047439617.1:c.2209_2210del, XM_047439619.1:c.2152_2153del, XM_047439623.1:c.2152_2153del, XM_047439627.1:c.2044_2045del, XM_047439641.1:c.2044_2045del, XM_047439626.1:c.2044_2045del, XM_047439625.1:c.2044_2045del, XM_047439630.1:c.2044_2045del, XM_047439629.1:c.2044_2045del, XM_047439631.1:c.2044_2045del, XM_047439632.1:c.2044_2045del, XM_047439637.1:c.2044_2045del, XM_047439636.1:c.2044_2045del, XM_047439628.1:c.2044_2045del, XM_047439635.1:c.2044_2045del, XM_047439638.1:c.2044_2045del, XM_047439633.1:c.2044_2045del, XM_047439620.1:c.2152_2153del, XM_047439634.1:c.2044_2045del, XM_047439618.1:c.2152_2153del, XM_047439622.1:c.2152_2153del, XM_047439621.1:c.2152_2153del, XM_047439639.1:c.2044_2045del, XM_047439640.1:c.2044_2045del, XM_047439642.1:c.2044_2045del, XM_047439616.1:c.2152_2153del, NM_001322136.1:c.2152_2153del, NP_150630.2:p.Ser718fs, NP_942596.1:p.Ser718fs, NP_001309059.1:p.Ser718fs, NP_001309068.1:p.Ser682fs, NP_001309060.1:p.Ser718fs, NP_001309058.1:p.Ser718fs, NP_001309066.1:p.Ser682fs, NP_001309063.1:p.Ser718fs, NP_001309062.1:p.Ser718fs, NP_001309057.1:p.Ser718fs, NP_001096073.1:p.Ser718fs, NP_001309061.1:p.Ser718fs, NP_001309067.1:p.Ser682fs, NP_001309064.1:p.Ser718fs, XP_047295580.1:p.Ser737fs, XP_047295573.1:p.Ser737fs, XP_047295575.1:p.Ser718fs, XP_047295579.1:p.Ser718fs, XP_047295583.1:p.Ser682fs, XP_047295597.1:p.Ser682fs, XP_047295582.1:p.Ser682fs, XP_047295581.1:p.Ser682fs, XP_047295586.1:p.Ser682fs, XP_047295585.1:p.Ser682fs, XP_047295587.1:p.Ser682fs, XP_047295588.1:p.Ser682fs, XP_047295593.1:p.Ser682fs, XP_047295592.1:p.Ser682fs, XP_047295584.1:p.Ser682fs, XP_047295591.1:p.Ser682fs, XP_047295594.1:p.Ser682fs, XP_047295589.1:p.Ser682fs, XP_047295576.1:p.Ser718fs, XP_047295590.1:p.Ser682fs, XP_047295574.1:p.Ser718fs, XP_047295578.1:p.Ser718fs, XP_047295577.1:p.Ser718fs, XP_047295595.1:p.Ser682fs, XP_047295596.1:p.Ser682fs, XP_047295598.1:p.Ser682fs, XP_047295572.1:p.Ser718fs, NP_001309065.1:p.Ser718fs

        4.

        rs1489244598 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          19:53068759 (GRCh38)
          19:53572012 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53068758:G:C
          Gene:
          ZNF160 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.53068759G>C, NC_000019.9:g.53572012G>C, NM_033288.4:c.1775C>G, NM_033288.3:c.1775C>G, NM_198893.3:c.1775C>G, NM_198893.2:c.1775C>G, NM_001322130.2:c.1775C>G, NM_001322130.1:c.1775C>G, NM_001322139.2:c.1667C>G, NM_001322139.1:c.1667C>G, NM_001322131.2:c.1775C>G, NM_001322131.1:c.1775C>G, NM_001322129.2:c.1775C>G, NM_001322129.1:c.1775C>G, NM_001322137.2:c.1667C>G, NM_001322137.1:c.1667C>G, NM_001322134.2:c.1775C>G, NM_001322134.1:c.1775C>G, NM_001322133.2:c.1775C>G, NM_001322133.1:c.1775C>G, NM_001322128.2:c.1775C>G, NM_001322128.1:c.1775C>G, NM_001102603.2:c.1775C>G, NM_001102603.1:c.1775C>G, NM_001322132.2:c.1775C>G, NM_001322132.1:c.1775C>G, NM_001322138.2:c.1667C>G, NM_001322138.1:c.1667C>G, NM_001322135.2:c.1775C>G, NM_001322135.1:c.1775C>G, XM_047439624.1:c.1832C>G, XM_047439617.1:c.1832C>G, XM_047439619.1:c.1775C>G, XM_047439623.1:c.1775C>G, XM_047439627.1:c.1667C>G, XM_047439641.1:c.1667C>G, XM_047439626.1:c.1667C>G, XM_047439625.1:c.1667C>G, XM_047439630.1:c.1667C>G, XM_047439629.1:c.1667C>G, XM_047439631.1:c.1667C>G, XM_047439632.1:c.1667C>G, XM_047439637.1:c.1667C>G, XM_047439636.1:c.1667C>G, XM_047439628.1:c.1667C>G, XM_047439635.1:c.1667C>G, XM_047439638.1:c.1667C>G, XM_047439633.1:c.1667C>G, XM_047439620.1:c.1775C>G, XM_047439634.1:c.1667C>G, XM_047439618.1:c.1775C>G, XM_047439622.1:c.1775C>G, XM_047439621.1:c.1775C>G, XM_047439639.1:c.1667C>G, XM_047439640.1:c.1667C>G, XM_047439642.1:c.1667C>G, XM_047439616.1:c.1775C>G, NM_001322136.1:c.1775C>G, NP_150630.2:p.Pro592Arg, NP_942596.1:p.Pro592Arg, NP_001309059.1:p.Pro592Arg, NP_001309068.1:p.Pro556Arg, NP_001309060.1:p.Pro592Arg, NP_001309058.1:p.Pro592Arg, NP_001309066.1:p.Pro556Arg, NP_001309063.1:p.Pro592Arg, NP_001309062.1:p.Pro592Arg, NP_001309057.1:p.Pro592Arg, NP_001096073.1:p.Pro592Arg, NP_001309061.1:p.Pro592Arg, NP_001309067.1:p.Pro556Arg, NP_001309064.1:p.Pro592Arg, XP_047295580.1:p.Pro611Arg, XP_047295573.1:p.Pro611Arg, XP_047295575.1:p.Pro592Arg, XP_047295579.1:p.Pro592Arg, XP_047295583.1:p.Pro556Arg, XP_047295597.1:p.Pro556Arg, XP_047295582.1:p.Pro556Arg, XP_047295581.1:p.Pro556Arg, XP_047295586.1:p.Pro556Arg, XP_047295585.1:p.Pro556Arg, XP_047295587.1:p.Pro556Arg, XP_047295588.1:p.Pro556Arg, XP_047295593.1:p.Pro556Arg, XP_047295592.1:p.Pro556Arg, XP_047295584.1:p.Pro556Arg, XP_047295591.1:p.Pro556Arg, XP_047295594.1:p.Pro556Arg, XP_047295589.1:p.Pro556Arg, XP_047295576.1:p.Pro592Arg, XP_047295590.1:p.Pro556Arg, XP_047295574.1:p.Pro592Arg, XP_047295578.1:p.Pro592Arg, XP_047295577.1:p.Pro592Arg, XP_047295595.1:p.Pro556Arg, XP_047295596.1:p.Pro556Arg, XP_047295598.1:p.Pro556Arg, XP_047295572.1:p.Pro592Arg, NP_001309065.1:p.Pro592Arg

          5.

          rs1486999444 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            19:53086272 (GRCh38)
            19:53589525 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53086271:G:C,NC_000019.10:53086271:G:T
            Gene:
            ZNF160 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000013/3 (GnomAD_exomes)
            T=0.000684/2 (KOREAN)
            HGVS:
            NC_000019.10:g.53086272G>C, NC_000019.10:g.53086272G>T, NC_000019.9:g.53589525G>C, NC_000019.9:g.53589525G>T, NM_033288.4:c.5C>G, NM_033288.4:c.5C>A, NM_033288.3:c.5C>G, NM_033288.3:c.5C>A, NM_198893.3:c.5C>G, NM_198893.3:c.5C>A, NM_198893.2:c.5C>G, NM_198893.2:c.5C>A, XM_017027448.3:c.5C>G, XM_017027448.3:c.5C>A, XM_017027448.2:c.5C>G, XM_017027448.2:c.5C>A, XM_017027448.1:c.5C>G, XM_017027448.1:c.5C>A, XM_017027447.3:c.62C>G, XM_017027447.3:c.62C>A, XM_017027447.2:c.62C>G, XM_017027447.2:c.62C>A, XM_017027447.1:c.62C>G, XM_017027447.1:c.62C>A, NM_001322130.2:c.5C>G, NM_001322130.2:c.5C>A, NM_001322130.1:c.5C>G, NM_001322130.1:c.5C>A, NM_001322139.2:c.-257C>G, NM_001322139.2:c.-257C>A, NM_001322139.1:c.-257C>G, NM_001322139.1:c.-257C>A, NM_001322131.2:c.5C>G, NM_001322131.2:c.5C>A, NM_001322131.1:c.5C>G, NM_001322131.1:c.5C>A, NM_001322129.2:c.5C>G, NM_001322129.2:c.5C>A, NM_001322129.1:c.5C>G, NM_001322129.1:c.5C>A, NM_001322137.2:c.-160C>G, NM_001322137.2:c.-160C>A, NM_001322137.1:c.-160C>G, NM_001322137.1:c.-160C>A, NM_001322134.2:c.5C>G, NM_001322134.2:c.5C>A, NM_001322134.1:c.5C>G, NM_001322134.1:c.5C>A, NM_001322133.2:c.5C>G, NM_001322133.2:c.5C>A, NM_001322133.1:c.5C>G, NM_001322133.1:c.5C>A, NM_001322128.2:c.5C>G, NM_001322128.2:c.5C>A, NM_001322128.1:c.5C>G, NM_001322128.1:c.5C>A, NM_001102603.2:c.5C>G, NM_001102603.2:c.5C>A, NM_001102603.1:c.5C>G, NM_001102603.1:c.5C>A, NM_001322132.2:c.5C>G, NM_001322132.2:c.5C>A, NM_001322132.1:c.5C>G, NM_001322132.1:c.5C>A, NM_001322138.2:c.-160C>G, NM_001322138.2:c.-160C>A, NM_001322138.1:c.-160C>G, NM_001322138.1:c.-160C>A, NM_001322135.2:c.5C>G, NM_001322135.2:c.5C>A, NM_001322135.1:c.5C>G, NM_001322135.1:c.5C>A, NM_001322126.2:c.5C>G, NM_001322126.2:c.5C>A, NM_001322126.1:c.5C>G, NM_001322126.1:c.5C>A, NM_001322125.2:c.5C>G, NM_001322125.2:c.5C>A, NM_001322125.1:c.5C>G, NM_001322125.1:c.5C>A, XM_047439624.1:c.62C>G, XM_047439624.1:c.62C>A, XM_047439617.1:c.62C>G, XM_047439617.1:c.62C>A, XM_047439619.1:c.5C>G, XM_047439619.1:c.5C>A, XM_047439623.1:c.5C>G, XM_047439623.1:c.5C>A, XM_047439627.1:c.-1203C>G, XM_047439627.1:c.-1203C>A, XM_047439641.1:c.-1051C>G, XM_047439641.1:c.-1051C>A, XM_047439626.1:c.-1203C>G, XM_047439626.1:c.-1203C>A, XM_047439625.1:c.-1203C>G, XM_047439625.1:c.-1203C>A, XM_047439630.1:c.-1070C>G, XM_047439630.1:c.-1070C>A, XM_047439629.1:c.-1051C>G, XM_047439629.1:c.-1051C>A, XM_047439631.1:c.-1051C>G, XM_047439631.1:c.-1051C>A, XM_047439632.1:c.-1203C>G, XM_047439632.1:c.-1203C>A, XM_047439637.1:c.-1070C>G, XM_047439637.1:c.-1070C>A, XM_047439636.1:c.-1051C>G, XM_047439636.1:c.-1051C>A, XM_047439628.1:c.-835C>G, XM_047439628.1:c.-835C>A, XM_047439635.1:c.-1051C>G, XM_047439635.1:c.-1051C>A, XM_047439638.1:c.-1051C>G, XM_047439638.1:c.-1051C>A, XM_047439633.1:c.-613C>G, XM_047439633.1:c.-613C>A, XM_047439620.1:c.5C>G, XM_047439620.1:c.5C>A, XM_047439634.1:c.-409C>G, XM_047439634.1:c.-409C>A, XM_047439618.1:c.5C>G, XM_047439618.1:c.5C>A, XM_047439622.1:c.5C>G, XM_047439622.1:c.5C>A, XM_047439621.1:c.5C>G, XM_047439621.1:c.5C>A, XM_047439639.1:c.-160C>G, XM_047439639.1:c.-160C>A, XM_047439640.1:c.-160C>G, XM_047439640.1:c.-160C>A, XM_047439642.1:c.-160C>G, XM_047439642.1:c.-160C>A, XM_047439616.1:c.5C>G, XM_047439616.1:c.5C>A, NM_001322136.1:c.5C>G, NM_001322136.1:c.5C>A, XM_047439643.1:c.5C>G, XM_047439643.1:c.5C>A, XM_047439646.1:c.5C>G, XM_047439646.1:c.5C>A, XM_047439644.1:c.5C>G, XM_047439644.1:c.5C>A, XM_047439645.1:c.5C>G, XM_047439645.1:c.5C>A, NP_150630.2:p.Ala2Gly, NP_150630.2:p.Ala2Asp, NP_942596.1:p.Ala2Gly, NP_942596.1:p.Ala2Asp, XP_016882937.1:p.Ala2Gly, XP_016882937.1:p.Ala2Asp, XP_016882936.1:p.Ala21Gly, XP_016882936.1:p.Ala21Asp, NP_001309059.1:p.Ala2Gly, NP_001309059.1:p.Ala2Asp, NP_001309060.1:p.Ala2Gly, NP_001309060.1:p.Ala2Asp, NP_001309058.1:p.Ala2Gly, NP_001309058.1:p.Ala2Asp, NP_001309063.1:p.Ala2Gly, NP_001309063.1:p.Ala2Asp, NP_001309062.1:p.Ala2Gly, NP_001309062.1:p.Ala2Asp, NP_001309057.1:p.Ala2Gly, NP_001309057.1:p.Ala2Asp, NP_001096073.1:p.Ala2Gly, NP_001096073.1:p.Ala2Asp, NP_001309061.1:p.Ala2Gly, NP_001309061.1:p.Ala2Asp, NP_001309064.1:p.Ala2Gly, NP_001309064.1:p.Ala2Asp, NP_001309055.1:p.Ala2Gly, NP_001309055.1:p.Ala2Asp, NP_001309054.1:p.Ala2Gly, NP_001309054.1:p.Ala2Asp, XP_047295580.1:p.Ala21Gly, XP_047295580.1:p.Ala21Asp, XP_047295573.1:p.Ala21Gly, XP_047295573.1:p.Ala21Asp, XP_047295575.1:p.Ala2Gly, XP_047295575.1:p.Ala2Asp, XP_047295579.1:p.Ala2Gly, XP_047295579.1:p.Ala2Asp, XP_047295576.1:p.Ala2Gly, XP_047295576.1:p.Ala2Asp, XP_047295574.1:p.Ala2Gly, XP_047295574.1:p.Ala2Asp, XP_047295578.1:p.Ala2Gly, XP_047295578.1:p.Ala2Asp, XP_047295577.1:p.Ala2Gly, XP_047295577.1:p.Ala2Asp, XP_047295572.1:p.Ala2Gly, XP_047295572.1:p.Ala2Asp, NP_001309065.1:p.Ala2Gly, NP_001309065.1:p.Ala2Asp, XP_047295599.1:p.Ala2Gly, XP_047295599.1:p.Ala2Asp, XP_047295602.1:p.Ala2Gly, XP_047295602.1:p.Ala2Asp, XP_047295600.1:p.Ala2Gly, XP_047295600.1:p.Ala2Asp, XP_047295601.1:p.Ala2Gly, XP_047295601.1:p.Ala2Asp

            6.

            rs1486070523 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              19:53075089 (GRCh38)
              19:53578342 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53075088:A:C
              Gene:
              ZNF160 (Varview)
              Functional Consequence:
              initiator_codon_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000019.10:g.53075089A>C, NC_000019.9:g.53578342A>C, NM_033288.4:c.110T>G, NM_033288.3:c.110T>G, NM_198893.3:c.110T>G, NM_198893.2:c.110T>G, XM_017027448.3:c.110T>G, XM_017027448.2:c.110T>G, XM_017027448.1:c.110T>G, XM_017027447.3:c.167T>G, XM_017027447.2:c.167T>G, XM_017027447.1:c.167T>G, NM_001322130.2:c.110T>G, NM_001322130.1:c.110T>G, NM_001322139.2:c.2T>G, NM_001322139.1:c.2T>G, NM_001322131.2:c.110T>G, NM_001322131.1:c.110T>G, NM_001322129.2:c.110T>G, NM_001322129.1:c.110T>G, NM_001322137.2:c.2T>G, NM_001322137.1:c.2T>G, NM_001322134.2:c.110T>G, NM_001322134.1:c.110T>G, NM_001322133.2:c.110T>G, NM_001322133.1:c.110T>G, NM_001322128.2:c.110T>G, NM_001322128.1:c.110T>G, NM_001102603.2:c.110T>G, NM_001102603.1:c.110T>G, NM_001322132.2:c.110T>G, NM_001322132.1:c.110T>G, NM_001322138.2:c.2T>G, NM_001322138.1:c.2T>G, NM_001322135.2:c.110T>G, NM_001322135.1:c.110T>G, NM_001322126.2:c.110T>G, NM_001322126.1:c.110T>G, NM_001322125.2:c.110T>G, NM_001322125.1:c.110T>G, XM_047439624.1:c.167T>G, XM_047439617.1:c.167T>G, XM_047439619.1:c.110T>G, XM_047439623.1:c.110T>G, XM_047439627.1:c.2T>G, XM_047439641.1:c.2T>G, XM_047439626.1:c.2T>G, XM_047439625.1:c.2T>G, XM_047439630.1:c.2T>G, XM_047439629.1:c.2T>G, XM_047439631.1:c.2T>G, XM_047439632.1:c.2T>G, XM_047439637.1:c.2T>G, XM_047439636.1:c.2T>G, XM_047439628.1:c.2T>G, XM_047439635.1:c.2T>G, XM_047439638.1:c.2T>G, XM_047439633.1:c.2T>G, XM_047439620.1:c.110T>G, XM_047439634.1:c.2T>G, XM_047439618.1:c.110T>G, XM_047439622.1:c.110T>G, XM_047439621.1:c.110T>G, XM_047439639.1:c.2T>G, XM_047439640.1:c.2T>G, XM_047439642.1:c.2T>G, XM_047439616.1:c.110T>G, NM_001322136.1:c.110T>G, XM_047439643.1:c.110T>G, XM_047439646.1:c.110T>G, XM_047439644.1:c.110T>G, XM_047439645.1:c.110T>G, NP_150630.2:p.Met37Arg, NP_942596.1:p.Met37Arg, XP_016882937.1:p.Met37Arg, XP_016882936.1:p.Met56Arg, NP_001309059.1:p.Met37Arg, NP_001309068.1:p.Met1Arg, NP_001309060.1:p.Met37Arg, NP_001309058.1:p.Met37Arg, NP_001309066.1:p.Met1Arg, NP_001309063.1:p.Met37Arg, NP_001309062.1:p.Met37Arg, NP_001309057.1:p.Met37Arg, NP_001096073.1:p.Met37Arg, NP_001309061.1:p.Met37Arg, NP_001309067.1:p.Met1Arg, NP_001309064.1:p.Met37Arg, NP_001309055.1:p.Met37Arg, NP_001309054.1:p.Met37Arg, XP_047295580.1:p.Met56Arg, XP_047295573.1:p.Met56Arg, XP_047295575.1:p.Met37Arg, XP_047295579.1:p.Met37Arg, XP_047295583.1:p.Met1Arg, XP_047295597.1:p.Met1Arg, XP_047295582.1:p.Met1Arg, XP_047295581.1:p.Met1Arg, XP_047295586.1:p.Met1Arg, XP_047295585.1:p.Met1Arg, XP_047295587.1:p.Met1Arg, XP_047295588.1:p.Met1Arg, XP_047295593.1:p.Met1Arg, XP_047295592.1:p.Met1Arg, XP_047295584.1:p.Met1Arg, XP_047295591.1:p.Met1Arg, XP_047295594.1:p.Met1Arg, XP_047295589.1:p.Met1Arg, XP_047295576.1:p.Met37Arg, XP_047295590.1:p.Met1Arg, XP_047295574.1:p.Met37Arg, XP_047295578.1:p.Met37Arg, XP_047295577.1:p.Met37Arg, XP_047295595.1:p.Met1Arg, XP_047295596.1:p.Met1Arg, XP_047295598.1:p.Met1Arg, XP_047295572.1:p.Met37Arg, NP_001309065.1:p.Met37Arg, XP_047295599.1:p.Met37Arg, XP_047295602.1:p.Met37Arg, XP_047295600.1:p.Met37Arg, XP_047295601.1:p.Met37Arg

              7.

              rs1484788163 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:53068647 (GRCh38)
                19:53571900 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53068646:A:G
                Gene:
                ZNF160 (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                HGVS:
                NC_000019.10:g.53068647A>G, NC_000019.9:g.53571900A>G, NM_033288.4:c.1887T>C, NM_033288.3:c.1887T>C, NM_198893.3:c.1887T>C, NM_198893.2:c.1887T>C, NM_001322130.2:c.1887T>C, NM_001322130.1:c.1887T>C, NM_001322139.2:c.1779T>C, NM_001322139.1:c.1779T>C, NM_001322131.2:c.1887T>C, NM_001322131.1:c.1887T>C, NM_001322129.2:c.1887T>C, NM_001322129.1:c.1887T>C, NM_001322137.2:c.1779T>C, NM_001322137.1:c.1779T>C, NM_001322134.2:c.1887T>C, NM_001322134.1:c.1887T>C, NM_001322133.2:c.1887T>C, NM_001322133.1:c.1887T>C, NM_001322128.2:c.1887T>C, NM_001322128.1:c.1887T>C, NM_001102603.2:c.1887T>C, NM_001102603.1:c.1887T>C, NM_001322132.2:c.1887T>C, NM_001322132.1:c.1887T>C, NM_001322138.2:c.1779T>C, NM_001322138.1:c.1779T>C, NM_001322135.2:c.1887T>C, NM_001322135.1:c.1887T>C, XM_047439624.1:c.1944T>C, XM_047439617.1:c.1944T>C, XM_047439619.1:c.1887T>C, XM_047439623.1:c.1887T>C, XM_047439627.1:c.1779T>C, XM_047439641.1:c.1779T>C, XM_047439626.1:c.1779T>C, XM_047439625.1:c.1779T>C, XM_047439630.1:c.1779T>C, XM_047439629.1:c.1779T>C, XM_047439631.1:c.1779T>C, XM_047439632.1:c.1779T>C, XM_047439637.1:c.1779T>C, XM_047439636.1:c.1779T>C, XM_047439628.1:c.1779T>C, XM_047439635.1:c.1779T>C, XM_047439638.1:c.1779T>C, XM_047439633.1:c.1779T>C, XM_047439620.1:c.1887T>C, XM_047439634.1:c.1779T>C, XM_047439618.1:c.1887T>C, XM_047439622.1:c.1887T>C, XM_047439621.1:c.1887T>C, XM_047439639.1:c.1779T>C, XM_047439640.1:c.1779T>C, XM_047439642.1:c.1779T>C, XM_047439616.1:c.1887T>C, NM_001322136.1:c.1887T>C

                8.

                rs1484138555 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:53068789 (GRCh38)
                  19:53572042 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53068788:C:T
                  Gene:
                  ZNF160 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000019.10:g.53068789C>T, NC_000019.9:g.53572042C>T, NM_033288.4:c.1745G>A, NM_033288.3:c.1745G>A, NM_198893.3:c.1745G>A, NM_198893.2:c.1745G>A, NM_001322130.2:c.1745G>A, NM_001322130.1:c.1745G>A, NM_001322139.2:c.1637G>A, NM_001322139.1:c.1637G>A, NM_001322131.2:c.1745G>A, NM_001322131.1:c.1745G>A, NM_001322129.2:c.1745G>A, NM_001322129.1:c.1745G>A, NM_001322137.2:c.1637G>A, NM_001322137.1:c.1637G>A, NM_001322134.2:c.1745G>A, NM_001322134.1:c.1745G>A, NM_001322133.2:c.1745G>A, NM_001322133.1:c.1745G>A, NM_001322128.2:c.1745G>A, NM_001322128.1:c.1745G>A, NM_001102603.2:c.1745G>A, NM_001102603.1:c.1745G>A, NM_001322132.2:c.1745G>A, NM_001322132.1:c.1745G>A, NM_001322138.2:c.1637G>A, NM_001322138.1:c.1637G>A, NM_001322135.2:c.1745G>A, NM_001322135.1:c.1745G>A, XM_047439624.1:c.1802G>A, XM_047439617.1:c.1802G>A, XM_047439619.1:c.1745G>A, XM_047439623.1:c.1745G>A, XM_047439627.1:c.1637G>A, XM_047439641.1:c.1637G>A, XM_047439626.1:c.1637G>A, XM_047439625.1:c.1637G>A, XM_047439630.1:c.1637G>A, XM_047439629.1:c.1637G>A, XM_047439631.1:c.1637G>A, XM_047439632.1:c.1637G>A, XM_047439637.1:c.1637G>A, XM_047439636.1:c.1637G>A, XM_047439628.1:c.1637G>A, XM_047439635.1:c.1637G>A, XM_047439638.1:c.1637G>A, XM_047439633.1:c.1637G>A, XM_047439620.1:c.1745G>A, XM_047439634.1:c.1637G>A, XM_047439618.1:c.1745G>A, XM_047439622.1:c.1745G>A, XM_047439621.1:c.1745G>A, XM_047439639.1:c.1637G>A, XM_047439640.1:c.1637G>A, XM_047439642.1:c.1637G>A, XM_047439616.1:c.1745G>A, NM_001322136.1:c.1745G>A, NP_150630.2:p.Arg582Lys, NP_942596.1:p.Arg582Lys, NP_001309059.1:p.Arg582Lys, NP_001309068.1:p.Arg546Lys, NP_001309060.1:p.Arg582Lys, NP_001309058.1:p.Arg582Lys, NP_001309066.1:p.Arg546Lys, NP_001309063.1:p.Arg582Lys, NP_001309062.1:p.Arg582Lys, NP_001309057.1:p.Arg582Lys, NP_001096073.1:p.Arg582Lys, NP_001309061.1:p.Arg582Lys, NP_001309067.1:p.Arg546Lys, NP_001309064.1:p.Arg582Lys, XP_047295580.1:p.Arg601Lys, XP_047295573.1:p.Arg601Lys, XP_047295575.1:p.Arg582Lys, XP_047295579.1:p.Arg582Lys, XP_047295583.1:p.Arg546Lys, XP_047295597.1:p.Arg546Lys, XP_047295582.1:p.Arg546Lys, XP_047295581.1:p.Arg546Lys, XP_047295586.1:p.Arg546Lys, XP_047295585.1:p.Arg546Lys, XP_047295587.1:p.Arg546Lys, XP_047295588.1:p.Arg546Lys, XP_047295593.1:p.Arg546Lys, XP_047295592.1:p.Arg546Lys, XP_047295584.1:p.Arg546Lys, XP_047295591.1:p.Arg546Lys, XP_047295594.1:p.Arg546Lys, XP_047295589.1:p.Arg546Lys, XP_047295576.1:p.Arg582Lys, XP_047295590.1:p.Arg546Lys, XP_047295574.1:p.Arg582Lys, XP_047295578.1:p.Arg582Lys, XP_047295577.1:p.Arg582Lys, XP_047295595.1:p.Arg546Lys, XP_047295596.1:p.Arg546Lys, XP_047295598.1:p.Arg546Lys, XP_047295572.1:p.Arg582Lys, NP_001309065.1:p.Arg582Lys

                  9.

                  rs1479832578 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    19:53069717 (GRCh38)
                    19:53572970 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53069716:T:A
                    Gene:
                    ZNF160 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.53069717T>A, NC_000019.9:g.53572970T>A, NM_033288.4:c.817A>T, NM_033288.3:c.817A>T, NM_198893.3:c.817A>T, NM_198893.2:c.817A>T, NM_001322130.2:c.817A>T, NM_001322130.1:c.817A>T, NM_001322139.2:c.709A>T, NM_001322139.1:c.709A>T, NM_001322131.2:c.817A>T, NM_001322131.1:c.817A>T, NM_001322129.2:c.817A>T, NM_001322129.1:c.817A>T, NM_001322137.2:c.709A>T, NM_001322137.1:c.709A>T, NM_001322134.2:c.817A>T, NM_001322134.1:c.817A>T, NM_001322133.2:c.817A>T, NM_001322133.1:c.817A>T, NM_001322128.2:c.817A>T, NM_001322128.1:c.817A>T, NM_001102603.2:c.817A>T, NM_001102603.1:c.817A>T, NM_001322132.2:c.817A>T, NM_001322132.1:c.817A>T, NM_001322138.2:c.709A>T, NM_001322138.1:c.709A>T, NM_001322135.2:c.817A>T, NM_001322135.1:c.817A>T, XM_047439624.1:c.874A>T, XM_047439617.1:c.874A>T, XM_047439619.1:c.817A>T, XM_047439623.1:c.817A>T, XM_047439627.1:c.709A>T, XM_047439641.1:c.709A>T, XM_047439626.1:c.709A>T, XM_047439625.1:c.709A>T, XM_047439630.1:c.709A>T, XM_047439629.1:c.709A>T, XM_047439631.1:c.709A>T, XM_047439632.1:c.709A>T, XM_047439637.1:c.709A>T, XM_047439636.1:c.709A>T, XM_047439628.1:c.709A>T, XM_047439635.1:c.709A>T, XM_047439638.1:c.709A>T, XM_047439633.1:c.709A>T, XM_047439620.1:c.817A>T, XM_047439634.1:c.709A>T, XM_047439618.1:c.817A>T, XM_047439622.1:c.817A>T, XM_047439621.1:c.817A>T, XM_047439639.1:c.709A>T, XM_047439640.1:c.709A>T, XM_047439642.1:c.709A>T, XM_047439616.1:c.817A>T, NM_001322136.1:c.817A>T, NP_150630.2:p.Thr273Ser, NP_942596.1:p.Thr273Ser, NP_001309059.1:p.Thr273Ser, NP_001309068.1:p.Thr237Ser, NP_001309060.1:p.Thr273Ser, NP_001309058.1:p.Thr273Ser, NP_001309066.1:p.Thr237Ser, NP_001309063.1:p.Thr273Ser, NP_001309062.1:p.Thr273Ser, NP_001309057.1:p.Thr273Ser, NP_001096073.1:p.Thr273Ser, NP_001309061.1:p.Thr273Ser, NP_001309067.1:p.Thr237Ser, NP_001309064.1:p.Thr273Ser, XP_047295580.1:p.Thr292Ser, XP_047295573.1:p.Thr292Ser, XP_047295575.1:p.Thr273Ser, XP_047295579.1:p.Thr273Ser, XP_047295583.1:p.Thr237Ser, XP_047295597.1:p.Thr237Ser, XP_047295582.1:p.Thr237Ser, XP_047295581.1:p.Thr237Ser, XP_047295586.1:p.Thr237Ser, XP_047295585.1:p.Thr237Ser, XP_047295587.1:p.Thr237Ser, XP_047295588.1:p.Thr237Ser, XP_047295593.1:p.Thr237Ser, XP_047295592.1:p.Thr237Ser, XP_047295584.1:p.Thr237Ser, XP_047295591.1:p.Thr237Ser, XP_047295594.1:p.Thr237Ser, XP_047295589.1:p.Thr237Ser, XP_047295576.1:p.Thr273Ser, XP_047295590.1:p.Thr237Ser, XP_047295574.1:p.Thr273Ser, XP_047295578.1:p.Thr273Ser, XP_047295577.1:p.Thr273Ser, XP_047295595.1:p.Thr237Ser, XP_047295596.1:p.Thr237Ser, XP_047295598.1:p.Thr237Ser, XP_047295572.1:p.Thr273Ser, NP_001309065.1:p.Thr273Ser

                    10.

                    rs1479801495 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      19:53069639 (GRCh38)
                      19:53572892 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53069638:T:A
                      Gene:
                      ZNF160 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.53069639T>A, NC_000019.9:g.53572892T>A, NM_033288.4:c.895A>T, NM_033288.3:c.895A>T, NM_198893.3:c.895A>T, NM_198893.2:c.895A>T, NM_001322130.2:c.895A>T, NM_001322130.1:c.895A>T, NM_001322139.2:c.787A>T, NM_001322139.1:c.787A>T, NM_001322131.2:c.895A>T, NM_001322131.1:c.895A>T, NM_001322129.2:c.895A>T, NM_001322129.1:c.895A>T, NM_001322137.2:c.787A>T, NM_001322137.1:c.787A>T, NM_001322134.2:c.895A>T, NM_001322134.1:c.895A>T, NM_001322133.2:c.895A>T, NM_001322133.1:c.895A>T, NM_001322128.2:c.895A>T, NM_001322128.1:c.895A>T, NM_001102603.2:c.895A>T, NM_001102603.1:c.895A>T, NM_001322132.2:c.895A>T, NM_001322132.1:c.895A>T, NM_001322138.2:c.787A>T, NM_001322138.1:c.787A>T, NM_001322135.2:c.895A>T, NM_001322135.1:c.895A>T, XM_047439624.1:c.952A>T, XM_047439617.1:c.952A>T, XM_047439619.1:c.895A>T, XM_047439623.1:c.895A>T, XM_047439627.1:c.787A>T, XM_047439641.1:c.787A>T, XM_047439626.1:c.787A>T, XM_047439625.1:c.787A>T, XM_047439630.1:c.787A>T, XM_047439629.1:c.787A>T, XM_047439631.1:c.787A>T, XM_047439632.1:c.787A>T, XM_047439637.1:c.787A>T, XM_047439636.1:c.787A>T, XM_047439628.1:c.787A>T, XM_047439635.1:c.787A>T, XM_047439638.1:c.787A>T, XM_047439633.1:c.787A>T, XM_047439620.1:c.895A>T, XM_047439634.1:c.787A>T, XM_047439618.1:c.895A>T, XM_047439622.1:c.895A>T, XM_047439621.1:c.895A>T, XM_047439639.1:c.787A>T, XM_047439640.1:c.787A>T, XM_047439642.1:c.787A>T, XM_047439616.1:c.895A>T, NM_001322136.1:c.895A>T, NP_150630.2:p.Asn299Tyr, NP_942596.1:p.Asn299Tyr, NP_001309059.1:p.Asn299Tyr, NP_001309068.1:p.Asn263Tyr, NP_001309060.1:p.Asn299Tyr, NP_001309058.1:p.Asn299Tyr, NP_001309066.1:p.Asn263Tyr, NP_001309063.1:p.Asn299Tyr, NP_001309062.1:p.Asn299Tyr, NP_001309057.1:p.Asn299Tyr, NP_001096073.1:p.Asn299Tyr, NP_001309061.1:p.Asn299Tyr, NP_001309067.1:p.Asn263Tyr, NP_001309064.1:p.Asn299Tyr, XP_047295580.1:p.Asn318Tyr, XP_047295573.1:p.Asn318Tyr, XP_047295575.1:p.Asn299Tyr, XP_047295579.1:p.Asn299Tyr, XP_047295583.1:p.Asn263Tyr, XP_047295597.1:p.Asn263Tyr, XP_047295582.1:p.Asn263Tyr, XP_047295581.1:p.Asn263Tyr, XP_047295586.1:p.Asn263Tyr, XP_047295585.1:p.Asn263Tyr, XP_047295587.1:p.Asn263Tyr, XP_047295588.1:p.Asn263Tyr, XP_047295593.1:p.Asn263Tyr, XP_047295592.1:p.Asn263Tyr, XP_047295584.1:p.Asn263Tyr, XP_047295591.1:p.Asn263Tyr, XP_047295594.1:p.Asn263Tyr, XP_047295589.1:p.Asn263Tyr, XP_047295576.1:p.Asn299Tyr, XP_047295590.1:p.Asn263Tyr, XP_047295574.1:p.Asn299Tyr, XP_047295578.1:p.Asn299Tyr, XP_047295577.1:p.Asn299Tyr, XP_047295595.1:p.Asn263Tyr, XP_047295596.1:p.Asn263Tyr, XP_047295598.1:p.Asn263Tyr, XP_047295572.1:p.Asn299Tyr, NP_001309065.1:p.Asn299Tyr

                      11.

                      rs1479775926 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        19:53068305 (GRCh38)
                        19:53571558 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53068304:A:G
                        Gene:
                        ZNF160 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.53068305A>G, NC_000019.9:g.53571558A>G, NM_033288.4:c.2229T>C, NM_033288.3:c.2229T>C, NM_198893.3:c.2229T>C, NM_198893.2:c.2229T>C, NM_001322130.2:c.2229T>C, NM_001322130.1:c.2229T>C, NM_001322139.2:c.2121T>C, NM_001322139.1:c.2121T>C, NM_001322131.2:c.2229T>C, NM_001322131.1:c.2229T>C, NM_001322129.2:c.2229T>C, NM_001322129.1:c.2229T>C, NM_001322137.2:c.2121T>C, NM_001322137.1:c.2121T>C, NM_001322134.2:c.2229T>C, NM_001322134.1:c.2229T>C, NM_001322133.2:c.2229T>C, NM_001322133.1:c.2229T>C, NM_001322128.2:c.2229T>C, NM_001322128.1:c.2229T>C, NM_001102603.2:c.2229T>C, NM_001102603.1:c.2229T>C, NM_001322132.2:c.2229T>C, NM_001322132.1:c.2229T>C, NM_001322138.2:c.2121T>C, NM_001322138.1:c.2121T>C, NM_001322135.2:c.2229T>C, NM_001322135.1:c.2229T>C, XM_047439624.1:c.2286T>C, XM_047439617.1:c.2286T>C, XM_047439619.1:c.2229T>C, XM_047439623.1:c.2229T>C, XM_047439627.1:c.2121T>C, XM_047439641.1:c.2121T>C, XM_047439626.1:c.2121T>C, XM_047439625.1:c.2121T>C, XM_047439630.1:c.2121T>C, XM_047439629.1:c.2121T>C, XM_047439631.1:c.2121T>C, XM_047439632.1:c.2121T>C, XM_047439637.1:c.2121T>C, XM_047439636.1:c.2121T>C, XM_047439628.1:c.2121T>C, XM_047439635.1:c.2121T>C, XM_047439638.1:c.2121T>C, XM_047439633.1:c.2121T>C, XM_047439620.1:c.2229T>C, XM_047439634.1:c.2121T>C, XM_047439618.1:c.2229T>C, XM_047439622.1:c.2229T>C, XM_047439621.1:c.2229T>C, XM_047439639.1:c.2121T>C, XM_047439640.1:c.2121T>C, XM_047439642.1:c.2121T>C, XM_047439616.1:c.2229T>C, NM_001322136.1:c.2229T>C

                        12.

                        rs1478423206 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          19:53069996 (GRCh38)
                          19:53573249 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53069995:G:C
                          Gene:
                          ZNF160 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000019.10:g.53069996G>C, NC_000019.9:g.53573249G>C, NM_033288.4:c.538C>G, NM_033288.3:c.538C>G, NM_198893.3:c.538C>G, NM_198893.2:c.538C>G, NM_001322130.2:c.538C>G, NM_001322130.1:c.538C>G, NM_001322139.2:c.430C>G, NM_001322139.1:c.430C>G, NM_001322131.2:c.538C>G, NM_001322131.1:c.538C>G, NM_001322129.2:c.538C>G, NM_001322129.1:c.538C>G, NM_001322137.2:c.430C>G, NM_001322137.1:c.430C>G, NM_001322134.2:c.538C>G, NM_001322134.1:c.538C>G, NM_001322133.2:c.538C>G, NM_001322133.1:c.538C>G, NM_001322128.2:c.538C>G, NM_001322128.1:c.538C>G, NM_001102603.2:c.538C>G, NM_001102603.1:c.538C>G, NM_001322132.2:c.538C>G, NM_001322132.1:c.538C>G, NM_001322138.2:c.430C>G, NM_001322138.1:c.430C>G, NM_001322135.2:c.538C>G, NM_001322135.1:c.538C>G, XM_047439624.1:c.595C>G, XM_047439617.1:c.595C>G, XM_047439619.1:c.538C>G, XM_047439623.1:c.538C>G, XM_047439627.1:c.430C>G, XM_047439641.1:c.430C>G, XM_047439626.1:c.430C>G, XM_047439625.1:c.430C>G, XM_047439630.1:c.430C>G, XM_047439629.1:c.430C>G, XM_047439631.1:c.430C>G, XM_047439632.1:c.430C>G, XM_047439637.1:c.430C>G, XM_047439636.1:c.430C>G, XM_047439628.1:c.430C>G, XM_047439635.1:c.430C>G, XM_047439638.1:c.430C>G, XM_047439633.1:c.430C>G, XM_047439620.1:c.538C>G, XM_047439634.1:c.430C>G, XM_047439618.1:c.538C>G, XM_047439622.1:c.538C>G, XM_047439621.1:c.538C>G, XM_047439639.1:c.430C>G, XM_047439640.1:c.430C>G, XM_047439642.1:c.430C>G, XM_047439616.1:c.538C>G, NM_001322136.1:c.538C>G, NP_150630.2:p.Gln180Glu, NP_942596.1:p.Gln180Glu, NP_001309059.1:p.Gln180Glu, NP_001309068.1:p.Gln144Glu, NP_001309060.1:p.Gln180Glu, NP_001309058.1:p.Gln180Glu, NP_001309066.1:p.Gln144Glu, NP_001309063.1:p.Gln180Glu, NP_001309062.1:p.Gln180Glu, NP_001309057.1:p.Gln180Glu, NP_001096073.1:p.Gln180Glu, NP_001309061.1:p.Gln180Glu, NP_001309067.1:p.Gln144Glu, NP_001309064.1:p.Gln180Glu, XP_047295580.1:p.Gln199Glu, XP_047295573.1:p.Gln199Glu, XP_047295575.1:p.Gln180Glu, XP_047295579.1:p.Gln180Glu, XP_047295583.1:p.Gln144Glu, XP_047295597.1:p.Gln144Glu, XP_047295582.1:p.Gln144Glu, XP_047295581.1:p.Gln144Glu, XP_047295586.1:p.Gln144Glu, XP_047295585.1:p.Gln144Glu, XP_047295587.1:p.Gln144Glu, XP_047295588.1:p.Gln144Glu, XP_047295593.1:p.Gln144Glu, XP_047295592.1:p.Gln144Glu, XP_047295584.1:p.Gln144Glu, XP_047295591.1:p.Gln144Glu, XP_047295594.1:p.Gln144Glu, XP_047295589.1:p.Gln144Glu, XP_047295576.1:p.Gln180Glu, XP_047295590.1:p.Gln144Glu, XP_047295574.1:p.Gln180Glu, XP_047295578.1:p.Gln180Glu, XP_047295577.1:p.Gln180Glu, XP_047295595.1:p.Gln144Glu, XP_047295596.1:p.Gln144Glu, XP_047295598.1:p.Gln144Glu, XP_047295572.1:p.Gln180Glu, NP_001309065.1:p.Gln180Glu

                          13.

                          rs1476843893 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            19:53068737 (GRCh38)
                            19:53571990 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53068736:G:T
                            Gene:
                            ZNF160 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000019.10:g.53068737G>T, NC_000019.9:g.53571990G>T, NM_033288.4:c.1797C>A, NM_033288.3:c.1797C>A, NM_198893.3:c.1797C>A, NM_198893.2:c.1797C>A, NM_001322130.2:c.1797C>A, NM_001322130.1:c.1797C>A, NM_001322139.2:c.1689C>A, NM_001322139.1:c.1689C>A, NM_001322131.2:c.1797C>A, NM_001322131.1:c.1797C>A, NM_001322129.2:c.1797C>A, NM_001322129.1:c.1797C>A, NM_001322137.2:c.1689C>A, NM_001322137.1:c.1689C>A, NM_001322134.2:c.1797C>A, NM_001322134.1:c.1797C>A, NM_001322133.2:c.1797C>A, NM_001322133.1:c.1797C>A, NM_001322128.2:c.1797C>A, NM_001322128.1:c.1797C>A, NM_001102603.2:c.1797C>A, NM_001102603.1:c.1797C>A, NM_001322132.2:c.1797C>A, NM_001322132.1:c.1797C>A, NM_001322138.2:c.1689C>A, NM_001322138.1:c.1689C>A, NM_001322135.2:c.1797C>A, NM_001322135.1:c.1797C>A, XM_047439624.1:c.1854C>A, XM_047439617.1:c.1854C>A, XM_047439619.1:c.1797C>A, XM_047439623.1:c.1797C>A, XM_047439627.1:c.1689C>A, XM_047439641.1:c.1689C>A, XM_047439626.1:c.1689C>A, XM_047439625.1:c.1689C>A, XM_047439630.1:c.1689C>A, XM_047439629.1:c.1689C>A, XM_047439631.1:c.1689C>A, XM_047439632.1:c.1689C>A, XM_047439637.1:c.1689C>A, XM_047439636.1:c.1689C>A, XM_047439628.1:c.1689C>A, XM_047439635.1:c.1689C>A, XM_047439638.1:c.1689C>A, XM_047439633.1:c.1689C>A, XM_047439620.1:c.1797C>A, XM_047439634.1:c.1689C>A, XM_047439618.1:c.1797C>A, XM_047439622.1:c.1797C>A, XM_047439621.1:c.1797C>A, XM_047439639.1:c.1689C>A, XM_047439640.1:c.1689C>A, XM_047439642.1:c.1689C>A, XM_047439616.1:c.1797C>A, NM_001322136.1:c.1797C>A

                            14.

                            rs1473095538 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              19:53068304 (GRCh38)
                              19:53571557 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53068303:G:C
                              Gene:
                              ZNF160 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000019.10:g.53068304G>C, NC_000019.9:g.53571557G>C, NM_033288.4:c.2230C>G, NM_033288.3:c.2230C>G, NM_198893.3:c.2230C>G, NM_198893.2:c.2230C>G, NM_001322130.2:c.2230C>G, NM_001322130.1:c.2230C>G, NM_001322139.2:c.2122C>G, NM_001322139.1:c.2122C>G, NM_001322131.2:c.2230C>G, NM_001322131.1:c.2230C>G, NM_001322129.2:c.2230C>G, NM_001322129.1:c.2230C>G, NM_001322137.2:c.2122C>G, NM_001322137.1:c.2122C>G, NM_001322134.2:c.2230C>G, NM_001322134.1:c.2230C>G, NM_001322133.2:c.2230C>G, NM_001322133.1:c.2230C>G, NM_001322128.2:c.2230C>G, NM_001322128.1:c.2230C>G, NM_001102603.2:c.2230C>G, NM_001102603.1:c.2230C>G, NM_001322132.2:c.2230C>G, NM_001322132.1:c.2230C>G, NM_001322138.2:c.2122C>G, NM_001322138.1:c.2122C>G, NM_001322135.2:c.2230C>G, NM_001322135.1:c.2230C>G, XM_047439624.1:c.2287C>G, XM_047439617.1:c.2287C>G, XM_047439619.1:c.2230C>G, XM_047439623.1:c.2230C>G, XM_047439627.1:c.2122C>G, XM_047439641.1:c.2122C>G, XM_047439626.1:c.2122C>G, XM_047439625.1:c.2122C>G, XM_047439630.1:c.2122C>G, XM_047439629.1:c.2122C>G, XM_047439631.1:c.2122C>G, XM_047439632.1:c.2122C>G, XM_047439637.1:c.2122C>G, XM_047439636.1:c.2122C>G, XM_047439628.1:c.2122C>G, XM_047439635.1:c.2122C>G, XM_047439638.1:c.2122C>G, XM_047439633.1:c.2122C>G, XM_047439620.1:c.2230C>G, XM_047439634.1:c.2122C>G, XM_047439618.1:c.2230C>G, XM_047439622.1:c.2230C>G, XM_047439621.1:c.2230C>G, XM_047439639.1:c.2122C>G, XM_047439640.1:c.2122C>G, XM_047439642.1:c.2122C>G, XM_047439616.1:c.2230C>G, NM_001322136.1:c.2230C>G, NP_150630.2:p.Gln744Glu, NP_942596.1:p.Gln744Glu, NP_001309059.1:p.Gln744Glu, NP_001309068.1:p.Gln708Glu, NP_001309060.1:p.Gln744Glu, NP_001309058.1:p.Gln744Glu, NP_001309066.1:p.Gln708Glu, NP_001309063.1:p.Gln744Glu, NP_001309062.1:p.Gln744Glu, NP_001309057.1:p.Gln744Glu, NP_001096073.1:p.Gln744Glu, NP_001309061.1:p.Gln744Glu, NP_001309067.1:p.Gln708Glu, NP_001309064.1:p.Gln744Glu, XP_047295580.1:p.Gln763Glu, XP_047295573.1:p.Gln763Glu, XP_047295575.1:p.Gln744Glu, XP_047295579.1:p.Gln744Glu, XP_047295583.1:p.Gln708Glu, XP_047295597.1:p.Gln708Glu, XP_047295582.1:p.Gln708Glu, XP_047295581.1:p.Gln708Glu, XP_047295586.1:p.Gln708Glu, XP_047295585.1:p.Gln708Glu, XP_047295587.1:p.Gln708Glu, XP_047295588.1:p.Gln708Glu, XP_047295593.1:p.Gln708Glu, XP_047295592.1:p.Gln708Glu, XP_047295584.1:p.Gln708Glu, XP_047295591.1:p.Gln708Glu, XP_047295594.1:p.Gln708Glu, XP_047295589.1:p.Gln708Glu, XP_047295576.1:p.Gln744Glu, XP_047295590.1:p.Gln708Glu, XP_047295574.1:p.Gln744Glu, XP_047295578.1:p.Gln744Glu, XP_047295577.1:p.Gln744Glu, XP_047295595.1:p.Gln708Glu, XP_047295596.1:p.Gln708Glu, XP_047295598.1:p.Gln708Glu, XP_047295572.1:p.Gln744Glu, NP_001309065.1:p.Gln744Glu

                              15.

                              rs1472258488 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:53068278 (GRCh38)
                                19:53571531 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53068277:T:C
                                Gene:
                                ZNF160 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.00006/2 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000019.10:g.53068278T>C, NC_000019.9:g.53571531T>C, NM_033288.4:c.2256A>G, NM_033288.3:c.2256A>G, NM_198893.3:c.2256A>G, NM_198893.2:c.2256A>G, NM_001322130.2:c.2256A>G, NM_001322130.1:c.2256A>G, NM_001322139.2:c.2148A>G, NM_001322139.1:c.2148A>G, NM_001322131.2:c.2256A>G, NM_001322131.1:c.2256A>G, NM_001322129.2:c.2256A>G, NM_001322129.1:c.2256A>G, NM_001322137.2:c.2148A>G, NM_001322137.1:c.2148A>G, NM_001322134.2:c.2256A>G, NM_001322134.1:c.2256A>G, NM_001322133.2:c.2256A>G, NM_001322133.1:c.2256A>G, NM_001322128.2:c.2256A>G, NM_001322128.1:c.2256A>G, NM_001102603.2:c.2256A>G, NM_001102603.1:c.2256A>G, NM_001322132.2:c.2256A>G, NM_001322132.1:c.2256A>G, NM_001322138.2:c.2148A>G, NM_001322138.1:c.2148A>G, NM_001322135.2:c.2256A>G, NM_001322135.1:c.2256A>G, XM_047439624.1:c.2313A>G, XM_047439617.1:c.2313A>G, XM_047439619.1:c.2256A>G, XM_047439623.1:c.2256A>G, XM_047439627.1:c.2148A>G, XM_047439641.1:c.2148A>G, XM_047439626.1:c.2148A>G, XM_047439625.1:c.2148A>G, XM_047439630.1:c.2148A>G, XM_047439629.1:c.2148A>G, XM_047439631.1:c.2148A>G, XM_047439632.1:c.2148A>G, XM_047439637.1:c.2148A>G, XM_047439636.1:c.2148A>G, XM_047439628.1:c.2148A>G, XM_047439635.1:c.2148A>G, XM_047439638.1:c.2148A>G, XM_047439633.1:c.2148A>G, XM_047439620.1:c.2256A>G, XM_047439634.1:c.2148A>G, XM_047439618.1:c.2256A>G, XM_047439622.1:c.2256A>G, XM_047439621.1:c.2256A>G, XM_047439639.1:c.2148A>G, XM_047439640.1:c.2148A>G, XM_047439642.1:c.2148A>G, XM_047439616.1:c.2256A>G, NM_001322136.1:c.2256A>G

                                16.

                                rs1471511780 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:53068118 (GRCh38)
                                  19:53571371 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53068117:T:C
                                  Gene:
                                  ZNF160 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000047/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.53068118T>C, NC_000019.9:g.53571371T>C, NM_033288.4:c.2416A>G, NM_033288.3:c.2416A>G, NM_198893.3:c.2416A>G, NM_198893.2:c.2416A>G, NM_001322130.2:c.2416A>G, NM_001322130.1:c.2416A>G, NM_001322139.2:c.2308A>G, NM_001322139.1:c.2308A>G, NM_001322131.2:c.2416A>G, NM_001322131.1:c.2416A>G, NM_001322129.2:c.2416A>G, NM_001322129.1:c.2416A>G, NM_001322137.2:c.2308A>G, NM_001322137.1:c.2308A>G, NM_001322134.2:c.2416A>G, NM_001322134.1:c.2416A>G, NM_001322133.2:c.2416A>G, NM_001322133.1:c.2416A>G, NM_001322128.2:c.2416A>G, NM_001322128.1:c.2416A>G, NM_001102603.2:c.2416A>G, NM_001102603.1:c.2416A>G, NM_001322132.2:c.2416A>G, NM_001322132.1:c.2416A>G, NM_001322138.2:c.2308A>G, NM_001322138.1:c.2308A>G, NM_001322135.2:c.2416A>G, NM_001322135.1:c.2416A>G, XM_047439624.1:c.2473A>G, XM_047439617.1:c.2473A>G, XM_047439619.1:c.2416A>G, XM_047439623.1:c.2416A>G, XM_047439627.1:c.2308A>G, XM_047439641.1:c.2308A>G, XM_047439626.1:c.2308A>G, XM_047439625.1:c.2308A>G, XM_047439630.1:c.2308A>G, XM_047439629.1:c.2308A>G, XM_047439631.1:c.2308A>G, XM_047439632.1:c.2308A>G, XM_047439637.1:c.2308A>G, XM_047439636.1:c.2308A>G, XM_047439628.1:c.2308A>G, XM_047439635.1:c.2308A>G, XM_047439638.1:c.2308A>G, XM_047439633.1:c.2308A>G, XM_047439620.1:c.2416A>G, XM_047439634.1:c.2308A>G, XM_047439618.1:c.2416A>G, XM_047439622.1:c.2416A>G, XM_047439621.1:c.2416A>G, XM_047439639.1:c.2308A>G, XM_047439640.1:c.2308A>G, XM_047439642.1:c.2308A>G, XM_047439616.1:c.2416A>G, NM_001322136.1:c.2416A>G, NP_150630.2:p.Ser806Gly, NP_942596.1:p.Ser806Gly, NP_001309059.1:p.Ser806Gly, NP_001309068.1:p.Ser770Gly, NP_001309060.1:p.Ser806Gly, NP_001309058.1:p.Ser806Gly, NP_001309066.1:p.Ser770Gly, NP_001309063.1:p.Ser806Gly, NP_001309062.1:p.Ser806Gly, NP_001309057.1:p.Ser806Gly, NP_001096073.1:p.Ser806Gly, NP_001309061.1:p.Ser806Gly, NP_001309067.1:p.Ser770Gly, NP_001309064.1:p.Ser806Gly, XP_047295580.1:p.Ser825Gly, XP_047295573.1:p.Ser825Gly, XP_047295575.1:p.Ser806Gly, XP_047295579.1:p.Ser806Gly, XP_047295583.1:p.Ser770Gly, XP_047295597.1:p.Ser770Gly, XP_047295582.1:p.Ser770Gly, XP_047295581.1:p.Ser770Gly, XP_047295586.1:p.Ser770Gly, XP_047295585.1:p.Ser770Gly, XP_047295587.1:p.Ser770Gly, XP_047295588.1:p.Ser770Gly, XP_047295593.1:p.Ser770Gly, XP_047295592.1:p.Ser770Gly, XP_047295584.1:p.Ser770Gly, XP_047295591.1:p.Ser770Gly, XP_047295594.1:p.Ser770Gly, XP_047295589.1:p.Ser770Gly, XP_047295576.1:p.Ser806Gly, XP_047295590.1:p.Ser770Gly, XP_047295574.1:p.Ser806Gly, XP_047295578.1:p.Ser806Gly, XP_047295577.1:p.Ser806Gly, XP_047295595.1:p.Ser770Gly, XP_047295596.1:p.Ser770Gly, XP_047295598.1:p.Ser770Gly, XP_047295572.1:p.Ser806Gly, NP_001309065.1:p.Ser806Gly

                                  17.

                                  rs1469375557 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:53070261 (GRCh38)
                                    19:53573514 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53070260:A:G
                                    Gene:
                                    ZNF160 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    NC_000019.10:g.53070261A>G, NC_000019.9:g.53573514A>G, NM_033288.4:c.273T>C, NM_033288.3:c.273T>C, NM_198893.3:c.273T>C, NM_198893.2:c.273T>C, NM_001322130.2:c.273T>C, NM_001322130.1:c.273T>C, NM_001322139.2:c.165T>C, NM_001322139.1:c.165T>C, NM_001322131.2:c.273T>C, NM_001322131.1:c.273T>C, NM_001322129.2:c.273T>C, NM_001322129.1:c.273T>C, NM_001322137.2:c.165T>C, NM_001322137.1:c.165T>C, NM_001322134.2:c.273T>C, NM_001322134.1:c.273T>C, NM_001322133.2:c.273T>C, NM_001322133.1:c.273T>C, NM_001322128.2:c.273T>C, NM_001322128.1:c.273T>C, NM_001102603.2:c.273T>C, NM_001102603.1:c.273T>C, NM_001322132.2:c.273T>C, NM_001322132.1:c.273T>C, NM_001322138.2:c.165T>C, NM_001322138.1:c.165T>C, NM_001322135.2:c.273T>C, NM_001322135.1:c.273T>C, XM_047439624.1:c.330T>C, XM_047439617.1:c.330T>C, XM_047439619.1:c.273T>C, XM_047439623.1:c.273T>C, XM_047439627.1:c.165T>C, XM_047439641.1:c.165T>C, XM_047439626.1:c.165T>C, XM_047439625.1:c.165T>C, XM_047439630.1:c.165T>C, XM_047439629.1:c.165T>C, XM_047439631.1:c.165T>C, XM_047439632.1:c.165T>C, XM_047439637.1:c.165T>C, XM_047439636.1:c.165T>C, XM_047439628.1:c.165T>C, XM_047439635.1:c.165T>C, XM_047439638.1:c.165T>C, XM_047439633.1:c.165T>C, XM_047439620.1:c.273T>C, XM_047439634.1:c.165T>C, XM_047439618.1:c.273T>C, XM_047439622.1:c.273T>C, XM_047439621.1:c.273T>C, XM_047439639.1:c.165T>C, XM_047439640.1:c.165T>C, XM_047439642.1:c.165T>C, XM_047439616.1:c.273T>C, NM_001322136.1:c.273T>C

                                    18.

                                    rs1469005284 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:53069564 (GRCh38)
                                      19:53572817 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53069563:G:A
                                      Gene:
                                      ZNF160 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.53069564G>A, NC_000019.9:g.53572817G>A, NM_033288.4:c.970C>T, NM_033288.3:c.970C>T, NM_198893.3:c.970C>T, NM_198893.2:c.970C>T, NM_001322130.2:c.970C>T, NM_001322130.1:c.970C>T, NM_001322139.2:c.862C>T, NM_001322139.1:c.862C>T, NM_001322131.2:c.970C>T, NM_001322131.1:c.970C>T, NM_001322129.2:c.970C>T, NM_001322129.1:c.970C>T, NM_001322137.2:c.862C>T, NM_001322137.1:c.862C>T, NM_001322134.2:c.970C>T, NM_001322134.1:c.970C>T, NM_001322133.2:c.970C>T, NM_001322133.1:c.970C>T, NM_001322128.2:c.970C>T, NM_001322128.1:c.970C>T, NM_001102603.2:c.970C>T, NM_001102603.1:c.970C>T, NM_001322132.2:c.970C>T, NM_001322132.1:c.970C>T, NM_001322138.2:c.862C>T, NM_001322138.1:c.862C>T, NM_001322135.2:c.970C>T, NM_001322135.1:c.970C>T, XM_047439624.1:c.1027C>T, XM_047439617.1:c.1027C>T, XM_047439619.1:c.970C>T, XM_047439623.1:c.970C>T, XM_047439627.1:c.862C>T, XM_047439641.1:c.862C>T, XM_047439626.1:c.862C>T, XM_047439625.1:c.862C>T, XM_047439630.1:c.862C>T, XM_047439629.1:c.862C>T, XM_047439631.1:c.862C>T, XM_047439632.1:c.862C>T, XM_047439637.1:c.862C>T, XM_047439636.1:c.862C>T, XM_047439628.1:c.862C>T, XM_047439635.1:c.862C>T, XM_047439638.1:c.862C>T, XM_047439633.1:c.862C>T, XM_047439620.1:c.970C>T, XM_047439634.1:c.862C>T, XM_047439618.1:c.970C>T, XM_047439622.1:c.970C>T, XM_047439621.1:c.970C>T, XM_047439639.1:c.862C>T, XM_047439640.1:c.862C>T, XM_047439642.1:c.862C>T, XM_047439616.1:c.970C>T, NM_001322136.1:c.970C>T, NP_150630.2:p.His324Tyr, NP_942596.1:p.His324Tyr, NP_001309059.1:p.His324Tyr, NP_001309068.1:p.His288Tyr, NP_001309060.1:p.His324Tyr, NP_001309058.1:p.His324Tyr, NP_001309066.1:p.His288Tyr, NP_001309063.1:p.His324Tyr, NP_001309062.1:p.His324Tyr, NP_001309057.1:p.His324Tyr, NP_001096073.1:p.His324Tyr, NP_001309061.1:p.His324Tyr, NP_001309067.1:p.His288Tyr, NP_001309064.1:p.His324Tyr, XP_047295580.1:p.His343Tyr, XP_047295573.1:p.His343Tyr, XP_047295575.1:p.His324Tyr, XP_047295579.1:p.His324Tyr, XP_047295583.1:p.His288Tyr, XP_047295597.1:p.His288Tyr, XP_047295582.1:p.His288Tyr, XP_047295581.1:p.His288Tyr, XP_047295586.1:p.His288Tyr, XP_047295585.1:p.His288Tyr, XP_047295587.1:p.His288Tyr, XP_047295588.1:p.His288Tyr, XP_047295593.1:p.His288Tyr, XP_047295592.1:p.His288Tyr, XP_047295584.1:p.His288Tyr, XP_047295591.1:p.His288Tyr, XP_047295594.1:p.His288Tyr, XP_047295589.1:p.His288Tyr, XP_047295576.1:p.His324Tyr, XP_047295590.1:p.His288Tyr, XP_047295574.1:p.His324Tyr, XP_047295578.1:p.His324Tyr, XP_047295577.1:p.His324Tyr, XP_047295595.1:p.His288Tyr, XP_047295596.1:p.His288Tyr, XP_047295598.1:p.His288Tyr, XP_047295572.1:p.His324Tyr, NP_001309065.1:p.His324Tyr

                                      19.

                                      rs1468249739 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:53069102 (GRCh38)
                                        19:53572355 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53069101:T:C
                                        Gene:
                                        ZNF160 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000036/9 (GnomAD_exomes)
                                        C=0.00006/16 (TOPMED)
                                        C=0.000157/22 (GnomAD)
                                        HGVS:
                                        NC_000019.10:g.53069102T>C, NC_000019.9:g.53572355T>C, NM_033288.4:c.1432A>G, NM_033288.3:c.1432A>G, NM_198893.3:c.1432A>G, NM_198893.2:c.1432A>G, NM_001322130.2:c.1432A>G, NM_001322130.1:c.1432A>G, NM_001322139.2:c.1324A>G, NM_001322139.1:c.1324A>G, NM_001322131.2:c.1432A>G, NM_001322131.1:c.1432A>G, NM_001322129.2:c.1432A>G, NM_001322129.1:c.1432A>G, NM_001322137.2:c.1324A>G, NM_001322137.1:c.1324A>G, NM_001322134.2:c.1432A>G, NM_001322134.1:c.1432A>G, NM_001322133.2:c.1432A>G, NM_001322133.1:c.1432A>G, NM_001322128.2:c.1432A>G, NM_001322128.1:c.1432A>G, NM_001102603.2:c.1432A>G, NM_001102603.1:c.1432A>G, NM_001322132.2:c.1432A>G, NM_001322132.1:c.1432A>G, NM_001322138.2:c.1324A>G, NM_001322138.1:c.1324A>G, NM_001322135.2:c.1432A>G, NM_001322135.1:c.1432A>G, XM_047439624.1:c.1489A>G, XM_047439617.1:c.1489A>G, XM_047439619.1:c.1432A>G, XM_047439623.1:c.1432A>G, XM_047439627.1:c.1324A>G, XM_047439641.1:c.1324A>G, XM_047439626.1:c.1324A>G, XM_047439625.1:c.1324A>G, XM_047439630.1:c.1324A>G, XM_047439629.1:c.1324A>G, XM_047439631.1:c.1324A>G, XM_047439632.1:c.1324A>G, XM_047439637.1:c.1324A>G, XM_047439636.1:c.1324A>G, XM_047439628.1:c.1324A>G, XM_047439635.1:c.1324A>G, XM_047439638.1:c.1324A>G, XM_047439633.1:c.1324A>G, XM_047439620.1:c.1432A>G, XM_047439634.1:c.1324A>G, XM_047439618.1:c.1432A>G, XM_047439622.1:c.1432A>G, XM_047439621.1:c.1432A>G, XM_047439639.1:c.1324A>G, XM_047439640.1:c.1324A>G, XM_047439642.1:c.1324A>G, XM_047439616.1:c.1432A>G, NM_001322136.1:c.1432A>G, NP_150630.2:p.Thr478Ala, NP_942596.1:p.Thr478Ala, NP_001309059.1:p.Thr478Ala, NP_001309068.1:p.Thr442Ala, NP_001309060.1:p.Thr478Ala, NP_001309058.1:p.Thr478Ala, NP_001309066.1:p.Thr442Ala, NP_001309063.1:p.Thr478Ala, NP_001309062.1:p.Thr478Ala, NP_001309057.1:p.Thr478Ala, NP_001096073.1:p.Thr478Ala, NP_001309061.1:p.Thr478Ala, NP_001309067.1:p.Thr442Ala, NP_001309064.1:p.Thr478Ala, XP_047295580.1:p.Thr497Ala, XP_047295573.1:p.Thr497Ala, XP_047295575.1:p.Thr478Ala, XP_047295579.1:p.Thr478Ala, XP_047295583.1:p.Thr442Ala, XP_047295597.1:p.Thr442Ala, XP_047295582.1:p.Thr442Ala, XP_047295581.1:p.Thr442Ala, XP_047295586.1:p.Thr442Ala, XP_047295585.1:p.Thr442Ala, XP_047295587.1:p.Thr442Ala, XP_047295588.1:p.Thr442Ala, XP_047295593.1:p.Thr442Ala, XP_047295592.1:p.Thr442Ala, XP_047295584.1:p.Thr442Ala, XP_047295591.1:p.Thr442Ala, XP_047295594.1:p.Thr442Ala, XP_047295589.1:p.Thr442Ala, XP_047295576.1:p.Thr478Ala, XP_047295590.1:p.Thr442Ala, XP_047295574.1:p.Thr478Ala, XP_047295578.1:p.Thr478Ala, XP_047295577.1:p.Thr478Ala, XP_047295595.1:p.Thr442Ala, XP_047295596.1:p.Thr442Ala, XP_047295598.1:p.Thr442Ala, XP_047295572.1:p.Thr478Ala, NP_001309065.1:p.Thr478Ala

                                        20.

                                        rs1466462390 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:53068578 (GRCh38)
                                          19:53571831 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53068577:A:G
                                          Gene:
                                          ZNF160 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.53068578A>G, NC_000019.9:g.53571831A>G, NM_033288.4:c.1956T>C, NM_033288.3:c.1956T>C, NM_198893.3:c.1956T>C, NM_198893.2:c.1956T>C, NM_001322130.2:c.1956T>C, NM_001322130.1:c.1956T>C, NM_001322139.2:c.1848T>C, NM_001322139.1:c.1848T>C, NM_001322131.2:c.1956T>C, NM_001322131.1:c.1956T>C, NM_001322129.2:c.1956T>C, NM_001322129.1:c.1956T>C, NM_001322137.2:c.1848T>C, NM_001322137.1:c.1848T>C, NM_001322134.2:c.1956T>C, NM_001322134.1:c.1956T>C, NM_001322133.2:c.1956T>C, NM_001322133.1:c.1956T>C, NM_001322128.2:c.1956T>C, NM_001322128.1:c.1956T>C, NM_001102603.2:c.1956T>C, NM_001102603.1:c.1956T>C, NM_001322132.2:c.1956T>C, NM_001322132.1:c.1956T>C, NM_001322138.2:c.1848T>C, NM_001322138.1:c.1848T>C, NM_001322135.2:c.1956T>C, NM_001322135.1:c.1956T>C, XM_047439624.1:c.2013T>C, XM_047439617.1:c.2013T>C, XM_047439619.1:c.1956T>C, XM_047439623.1:c.1956T>C, XM_047439627.1:c.1848T>C, XM_047439641.1:c.1848T>C, XM_047439626.1:c.1848T>C, XM_047439625.1:c.1848T>C, XM_047439630.1:c.1848T>C, XM_047439629.1:c.1848T>C, XM_047439631.1:c.1848T>C, XM_047439632.1:c.1848T>C, XM_047439637.1:c.1848T>C, XM_047439636.1:c.1848T>C, XM_047439628.1:c.1848T>C, XM_047439635.1:c.1848T>C, XM_047439638.1:c.1848T>C, XM_047439633.1:c.1848T>C, XM_047439620.1:c.1956T>C, XM_047439634.1:c.1848T>C, XM_047439618.1:c.1956T>C, XM_047439622.1:c.1956T>C, XM_047439621.1:c.1956T>C, XM_047439639.1:c.1848T>C, XM_047439640.1:c.1848T>C, XM_047439642.1:c.1848T>C, XM_047439616.1:c.1956T>C, NM_001322136.1:c.1956T>C

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