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Items: 1 to 20 of 164

1.

rs1478296951 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:48295205 (GRCh38)
    3:48336695 (GRCh37)
    Canonical SPDI:
    NC_000003.12:48295204:G:A
    Gene:
    NME6 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000047/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.48295205G>A, NC_000003.11:g.48336695G>A, NM_005793.5:c.288C>T, NM_005793.4:c.288C>T, NM_005793.3:c.288C>T, XM_017005516.3:c.248C>T, XM_017005516.2:c.248C>T, XM_017005516.1:c.248C>T, NM_001308427.2:c.264C>T, NM_001308427.1:c.264C>T, NM_001308428.2:c.264C>T, NM_001308428.1:c.264C>T, XM_017005515.2:c.224C>T, XM_017005515.1:c.224C>T, NM_001308433.2:c.224C>T, NM_001308433.1:c.224C>T, NM_001308430.2:c.248C>T, NM_001308430.1:c.248C>T, NM_001308426.2:c.264C>T, NM_001308426.1:c.264C>T, NM_001308431.2:c.224C>T, NM_001308431.1:c.224C>T, NM_001308434.2:c.129C>T, NM_001308434.1:c.129C>T, XM_017005517.2:c.48C>T, XM_017005517.1:c.48C>T, XM_024453306.2:c.264C>T, XM_024453306.1:c.264C>T, XM_024453299.2:c.396C>T, XM_024453299.1:c.396C>T, XM_024453301.2:c.276C>T, XM_024453301.1:c.276C>T, XM_024453303.2:c.264C>T, XM_024453303.1:c.264C>T, XM_024453302.2:c.264C>T, XM_024453302.1:c.264C>T, XM_024453300.2:c.288C>T, XM_024453300.1:c.288C>T, XM_024453297.2:c.264C>T, XM_024453297.1:c.264C>T, XM_047447178.1:c.264C>T, XM_047447177.1:c.396C>T, XM_047447179.1:c.224C>T, XM_047447173.1:c.264C>T, XM_047447175.1:c.276C>T, XM_047447176.1:c.264C>T, XM_047447174.1:c.276C>T, XP_016861005.1:p.Thr83Ile, XP_016861004.1:p.Thr75Ile, NP_001295362.1:p.Thr75Ile, NP_001295359.1:p.Thr83Ile, NP_001295360.1:p.Thr75Ile, XP_047303135.1:p.Thr75Ile

    2.

    rs1468773506 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:48296770 (GRCh38)
      3:48338260 (GRCh37)
      Canonical SPDI:
      NC_000003.12:48296769:C:T
      Gene:
      NME6 (Varview)
      Functional Consequence:
      intron_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.48296770C>T, NC_000003.11:g.48338260C>T, NM_005793.5:c.174G>A, NM_005793.4:c.174G>A, NM_005793.3:c.174G>A, XM_017005516.3:c.174G>A, XM_017005516.2:c.174G>A, XM_017005516.1:c.174G>A, NM_001308427.2:c.150G>A, NM_001308427.1:c.150G>A, NM_001308428.2:c.150G>A, NM_001308428.1:c.150G>A, XM_017005515.2:c.150G>A, XM_017005515.1:c.150G>A, NM_001308433.2:c.150G>A, NM_001308433.1:c.150G>A, NM_001308430.2:c.174G>A, NM_001308430.1:c.174G>A, NM_001308426.2:c.150G>A, NM_001308426.1:c.150G>A, NM_001308431.2:c.150G>A, NM_001308431.1:c.150G>A, NM_001308434.2:c.15G>A, NM_001308434.1:c.15G>A, NM_001308435.2:c.150G>A, NM_001308435.1:c.150G>A, XM_024453306.2:c.150G>A, XM_024453306.1:c.150G>A, XM_024453299.2:c.282G>A, XM_024453299.1:c.282G>A, XM_024453301.2:c.162G>A, XM_024453301.1:c.162G>A, XM_024453303.2:c.150G>A, XM_024453303.1:c.150G>A, XM_024453302.2:c.150G>A, XM_024453302.1:c.150G>A, XM_024453300.2:c.174G>A, XM_024453300.1:c.174G>A, XM_024453297.2:c.150G>A, XM_024453297.1:c.150G>A, XM_047447178.1:c.150G>A, XM_047447177.1:c.282G>A, XM_047447179.1:c.150G>A, XM_047447173.1:c.150G>A, XM_047447175.1:c.162G>A, XM_047447176.1:c.150G>A, XM_047447174.1:c.162G>A

      3.

      rs1468243814 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:48295216 (GRCh38)
        3:48336706 (GRCh37)
        Canonical SPDI:
        NC_000003.12:48295215:T:C
        Gene:
        NME6 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.48295216T>C, NC_000003.11:g.48336706T>C, NM_005793.5:c.277A>G, NM_005793.4:c.277A>G, NM_005793.3:c.277A>G, XM_017005516.3:c.237A>G, XM_017005516.2:c.237A>G, XM_017005516.1:c.237A>G, NM_001308427.2:c.253A>G, NM_001308427.1:c.253A>G, NM_001308428.2:c.253A>G, NM_001308428.1:c.253A>G, XM_017005515.2:c.213A>G, XM_017005515.1:c.213A>G, NM_001308433.2:c.213A>G, NM_001308433.1:c.213A>G, NM_001308430.2:c.237A>G, NM_001308430.1:c.237A>G, NM_001308426.2:c.253A>G, NM_001308426.1:c.253A>G, NM_001308431.2:c.213A>G, NM_001308431.1:c.213A>G, NM_001308434.2:c.118A>G, NM_001308434.1:c.118A>G, XM_017005517.2:c.37A>G, XM_017005517.1:c.37A>G, XM_024453306.2:c.253A>G, XM_024453306.1:c.253A>G, XM_024453299.2:c.385A>G, XM_024453299.1:c.385A>G, XM_024453301.2:c.265A>G, XM_024453301.1:c.265A>G, XM_024453303.2:c.253A>G, XM_024453303.1:c.253A>G, XM_024453302.2:c.253A>G, XM_024453302.1:c.253A>G, XM_024453300.2:c.277A>G, XM_024453300.1:c.277A>G, XM_024453297.2:c.253A>G, XM_024453297.1:c.253A>G, XM_047447178.1:c.253A>G, XM_047447177.1:c.385A>G, XM_047447179.1:c.213A>G, XM_047447173.1:c.253A>G, XM_047447175.1:c.265A>G, XM_047447176.1:c.253A>G, XM_047447174.1:c.265A>G, NP_005784.1:p.Ile93Val, NP_001295356.1:p.Ile85Val, NP_001295357.1:p.Ile85Val, NP_001295355.1:p.Ile85Val, NP_001295363.1:p.Ile40Val, XP_016861006.1:p.Ile13Val, XP_024309074.1:p.Ile85Val, XP_024309067.1:p.Ile129Val, XP_024309069.1:p.Ile89Val, XP_024309071.1:p.Ile85Val, XP_024309070.1:p.Ile85Val, XP_024309068.1:p.Ile93Val, XP_024309065.1:p.Ile85Val, XP_047303134.1:p.Ile85Val, XP_047303133.1:p.Ile129Val, XP_047303129.1:p.Ile85Val, XP_047303131.1:p.Ile89Val, XP_047303132.1:p.Ile85Val, XP_047303130.1:p.Ile89Val

        4.

        rs1466357654 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:48294669 (GRCh38)
          3:48336159 (GRCh37)
          Canonical SPDI:
          NC_000003.12:48294668:C:T
          Gene:
          NME6 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000111/1 (ALFA)
          T=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.48294669C>T, NC_000003.11:g.48336159C>T, NM_005793.5:c.553G>A, NM_005793.4:c.553G>A, NM_005793.3:c.553G>A, NM_001308427.2:c.529G>A, NM_001308427.1:c.529G>A, NM_001308428.2:c.529G>A, NM_001308428.1:c.529G>A, XM_017005515.2:c.489G>A, XM_017005515.1:c.489G>A, NM_001308433.2:c.489G>A, NM_001308433.1:c.489G>A, NM_001308430.2:c.513G>A, NM_001308430.1:c.513G>A, NM_001308426.2:c.529G>A, NM_001308426.1:c.529G>A, NM_001308431.2:c.489G>A, NM_001308431.1:c.489G>A, NM_001308434.2:c.394G>A, NM_001308434.1:c.394G>A, XM_017005517.2:c.313G>A, XM_017005517.1:c.313G>A, NM_001308435.2:c.328G>A, NM_001308435.1:c.328G>A, XM_047447178.1:c.529G>A, XM_047447177.1:c.661G>A, XM_047447179.1:c.489G>A, XM_047447173.1:c.529G>A, XM_047447175.1:c.541G>A, NP_005784.1:p.Val185Ile, NP_001295356.1:p.Val177Ile, NP_001295357.1:p.Val177Ile, XP_016861004.1:p.Met163Ile, NP_001295362.1:p.Met163Ile, NP_001295359.1:p.Met171Ile, NP_001295355.1:p.Val177Ile, NP_001295360.1:p.Met163Ile, NP_001295363.1:p.Val132Ile, XP_016861006.1:p.Val105Ile, NP_001295364.1:p.Val110Ile, XP_047303134.1:p.Val177Ile, XP_047303133.1:p.Val221Ile, XP_047303135.1:p.Met163Ile, XP_047303129.1:p.Val177Ile, XP_047303131.1:p.Val181Ile

          5.

          rs1464263869 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            3:48295106 (GRCh38)
            3:48336596 (GRCh37)
            Canonical SPDI:
            NC_000003.12:48295105:G:C
            Gene:
            NME6 (Varview)
            Functional Consequence:
            stop_gained,intron_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000003.12:g.48295106G>C, NC_000003.11:g.48336596G>C, NM_005793.5:c.387C>G, NM_005793.4:c.387C>G, NM_005793.3:c.387C>G, XM_017005516.3:c.347C>G, XM_017005516.2:c.347C>G, XM_017005516.1:c.347C>G, NM_001308427.2:c.363C>G, NM_001308427.1:c.363C>G, NM_001308428.2:c.363C>G, NM_001308428.1:c.363C>G, XM_017005515.2:c.323C>G, XM_017005515.1:c.323C>G, NM_001308433.2:c.323C>G, NM_001308433.1:c.323C>G, NM_001308430.2:c.347C>G, NM_001308430.1:c.347C>G, NM_001308426.2:c.363C>G, NM_001308426.1:c.363C>G, NM_001308431.2:c.323C>G, NM_001308431.1:c.323C>G, NM_001308434.2:c.228C>G, NM_001308434.1:c.228C>G, XM_017005517.2:c.147C>G, XM_017005517.1:c.147C>G, XM_024453306.2:c.363C>G, XM_024453306.1:c.363C>G, XM_024453299.2:c.495C>G, XM_024453299.1:c.495C>G, XM_024453301.2:c.375C>G, XM_024453301.1:c.375C>G, XM_024453303.2:c.363C>G, XM_024453303.1:c.363C>G, XM_024453302.2:c.363C>G, XM_024453302.1:c.363C>G, XM_024453300.2:c.387C>G, XM_024453300.1:c.387C>G, XM_024453297.2:c.363C>G, XM_024453297.1:c.363C>G, XM_047447178.1:c.363C>G, XM_047447177.1:c.495C>G, XM_047447179.1:c.323C>G, XM_047447173.1:c.363C>G, XM_047447175.1:c.375C>G, XM_047447176.1:c.363C>G, XM_047447174.1:c.375C>G, XP_016861005.1:p.Ser116Ter, XP_016861004.1:p.Ser108Ter, NP_001295362.1:p.Ser108Ter, NP_001295359.1:p.Ser116Ter, NP_001295360.1:p.Ser108Ter, XP_047303135.1:p.Ser108Ter

            6.

            rs1463830504 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:48296749 (GRCh38)
              3:48338239 (GRCh37)
              Canonical SPDI:
              NC_000003.12:48296748:C:G
              Gene:
              NME6 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.48296749C>G, NC_000003.11:g.48338239C>G, NM_005793.5:c.195G>C, NM_005793.4:c.195G>C, NM_005793.3:c.195G>C, XM_017005516.3:c.195G>C, XM_017005516.2:c.195G>C, XM_017005516.1:c.195G>C, NM_001308427.2:c.171G>C, NM_001308427.1:c.171G>C, NM_001308428.2:c.171G>C, NM_001308428.1:c.171G>C, XM_017005515.2:c.171G>C, XM_017005515.1:c.171G>C, NM_001308433.2:c.171G>C, NM_001308433.1:c.171G>C, NM_001308430.2:c.195G>C, NM_001308430.1:c.195G>C, NM_001308426.2:c.171G>C, NM_001308426.1:c.171G>C, NM_001308431.2:c.171G>C, NM_001308431.1:c.171G>C, NM_001308434.2:c.36G>C, NM_001308434.1:c.36G>C, NM_001308435.2:c.171G>C, NM_001308435.1:c.171G>C, XM_024453306.2:c.171G>C, XM_024453306.1:c.171G>C, XM_024453299.2:c.303G>C, XM_024453299.1:c.303G>C, XM_024453301.2:c.183G>C, XM_024453301.1:c.183G>C, XM_024453303.2:c.171G>C, XM_024453303.1:c.171G>C, XM_024453302.2:c.171G>C, XM_024453302.1:c.171G>C, XM_024453300.2:c.195G>C, XM_024453300.1:c.195G>C, XM_024453297.2:c.171G>C, XM_024453297.1:c.171G>C, XM_047447178.1:c.171G>C, XM_047447177.1:c.303G>C, XM_047447179.1:c.171G>C, XM_047447173.1:c.171G>C, XM_047447175.1:c.183G>C, XM_047447176.1:c.171G>C, XM_047447174.1:c.183G>C, NP_005784.1:p.Gln65His, XP_016861005.1:p.Gln65His, NP_001295356.1:p.Gln57His, NP_001295357.1:p.Gln57His, XP_016861004.1:p.Gln57His, NP_001295362.1:p.Gln57His, NP_001295359.1:p.Gln65His, NP_001295355.1:p.Gln57His, NP_001295360.1:p.Gln57His, NP_001295363.1:p.Gln12His, NP_001295364.1:p.Gln57His, XP_024309074.1:p.Gln57His, XP_024309067.1:p.Gln101His, XP_024309069.1:p.Gln61His, XP_024309071.1:p.Gln57His, XP_024309070.1:p.Gln57His, XP_024309068.1:p.Gln65His, XP_024309065.1:p.Gln57His, XP_047303134.1:p.Gln57His, XP_047303133.1:p.Gln101His, XP_047303135.1:p.Gln57His, XP_047303129.1:p.Gln57His, XP_047303131.1:p.Gln61His, XP_047303132.1:p.Gln57His, XP_047303130.1:p.Gln61His

              7.

              rs1462000915 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                3:48295169 (GRCh38)
                3:48336659 (GRCh37)
                Canonical SPDI:
                NC_000003.12:48295168:T:G
                Gene:
                NME6 (Varview)
                Functional Consequence:
                intron_variant,synonymous_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.48295169T>G, NC_000003.11:g.48336659T>G, NM_005793.5:c.324A>C, NM_005793.4:c.324A>C, NM_005793.3:c.324A>C, XM_017005516.3:c.284A>C, XM_017005516.2:c.284A>C, XM_017005516.1:c.284A>C, NM_001308427.2:c.300A>C, NM_001308427.1:c.300A>C, NM_001308428.2:c.300A>C, NM_001308428.1:c.300A>C, XM_017005515.2:c.260A>C, XM_017005515.1:c.260A>C, NM_001308433.2:c.260A>C, NM_001308433.1:c.260A>C, NM_001308430.2:c.284A>C, NM_001308430.1:c.284A>C, NM_001308426.2:c.300A>C, NM_001308426.1:c.300A>C, NM_001308431.2:c.260A>C, NM_001308431.1:c.260A>C, NM_001308434.2:c.165A>C, NM_001308434.1:c.165A>C, XM_017005517.2:c.84A>C, XM_017005517.1:c.84A>C, XM_024453306.2:c.300A>C, XM_024453306.1:c.300A>C, XM_024453299.2:c.432A>C, XM_024453299.1:c.432A>C, XM_024453301.2:c.312A>C, XM_024453301.1:c.312A>C, XM_024453303.2:c.300A>C, XM_024453303.1:c.300A>C, XM_024453302.2:c.300A>C, XM_024453302.1:c.300A>C, XM_024453300.2:c.324A>C, XM_024453300.1:c.324A>C, XM_024453297.2:c.300A>C, XM_024453297.1:c.300A>C, XM_047447178.1:c.300A>C, XM_047447177.1:c.432A>C, XM_047447179.1:c.260A>C, XM_047447173.1:c.300A>C, XM_047447175.1:c.312A>C, XM_047447176.1:c.300A>C, XM_047447174.1:c.312A>C, XP_016861005.1:p.Asp95Ala, XP_016861004.1:p.Asp87Ala, NP_001295362.1:p.Asp87Ala, NP_001295359.1:p.Asp95Ala, NP_001295360.1:p.Asp87Ala, XP_047303135.1:p.Asp87Ala

                8.

                rs1450214375 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  3:48295098 (GRCh38)
                  3:48336589 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:48295098:T:TT
                  Gene:
                  NME6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.48295099dup, NC_000003.11:g.48336589dup, NM_005793.5:c.394dup, NM_005793.4:c.394dup, NM_005793.3:c.394dup, XM_017005516.3:c.354dup, XM_017005516.2:c.354dup, XM_017005516.1:c.354dup, NM_001308427.2:c.370dup, NM_001308427.1:c.370dup, NM_001308428.2:c.370dup, NM_001308428.1:c.370dup, XM_017005515.2:c.330dup, XM_017005515.1:c.330dup, NM_001308433.2:c.330dup, NM_001308433.1:c.330dup, NM_001308430.2:c.354dup, NM_001308430.1:c.354dup, NM_001308426.2:c.370dup, NM_001308426.1:c.370dup, NM_001308431.2:c.330dup, NM_001308431.1:c.330dup, NM_001308434.2:c.235dup, NM_001308434.1:c.235dup, XM_017005517.2:c.154dup, XM_017005517.1:c.154dup, XM_024453306.2:c.370dup, XM_024453306.1:c.370dup, XM_024453299.2:c.502dup, XM_024453299.1:c.502dup, XM_024453301.2:c.382dup, XM_024453301.1:c.382dup, XM_024453303.2:c.370dup, XM_024453303.1:c.370dup, XM_024453302.2:c.370dup, XM_024453302.1:c.370dup, XM_024453300.2:c.394dup, XM_024453300.1:c.394dup, XM_024453297.2:c.370dup, XM_024453297.1:c.370dup, XM_047447178.1:c.370dup, XM_047447177.1:c.502dup, XM_047447179.1:c.330dup, XM_047447173.1:c.370dup, XM_047447175.1:c.382dup, XM_047447176.1:c.370dup, XM_047447174.1:c.382dup, NP_005784.1:p.Thr132fs, XP_016861005.1:p.Pro119fs, NP_001295356.1:p.Thr124fs, NP_001295357.1:p.Thr124fs, XP_016861004.1:p.Pro111fs, NP_001295362.1:p.Pro111fs, NP_001295359.1:p.Pro119fs, NP_001295355.1:p.Thr124fs, NP_001295360.1:p.Pro111fs, NP_001295363.1:p.Thr79fs, XP_016861006.1:p.Thr52fs, XP_024309074.1:p.Thr124fs, XP_024309067.1:p.Thr168fs, XP_024309069.1:p.Thr128fs, XP_024309071.1:p.Thr124fs, XP_024309070.1:p.Thr124fs, XP_024309068.1:p.Thr132fs, XP_024309065.1:p.Thr124fs, XP_047303134.1:p.Thr124fs, XP_047303133.1:p.Thr168fs, XP_047303135.1:p.Pro111fs, XP_047303129.1:p.Thr124fs, XP_047303131.1:p.Thr128fs, XP_047303132.1:p.Thr124fs, XP_047303130.1:p.Thr128fs

                  9.

                  rs1448543705 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:48295188 (GRCh38)
                    3:48336678 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:48295187:A:G
                    Gene:
                    NME6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000003.12:g.48295188A>G, NC_000003.11:g.48336678A>G, NM_005793.5:c.305T>C, NM_005793.4:c.305T>C, NM_005793.3:c.305T>C, XM_017005516.3:c.265T>C, XM_017005516.2:c.265T>C, XM_017005516.1:c.265T>C, NM_001308427.2:c.281T>C, NM_001308427.1:c.281T>C, NM_001308428.2:c.281T>C, NM_001308428.1:c.281T>C, XM_017005515.2:c.241T>C, XM_017005515.1:c.241T>C, NM_001308433.2:c.241T>C, NM_001308433.1:c.241T>C, NM_001308430.2:c.265T>C, NM_001308430.1:c.265T>C, NM_001308426.2:c.281T>C, NM_001308426.1:c.281T>C, NM_001308431.2:c.241T>C, NM_001308431.1:c.241T>C, NM_001308434.2:c.146T>C, NM_001308434.1:c.146T>C, XM_017005517.2:c.65T>C, XM_017005517.1:c.65T>C, XM_024453306.2:c.281T>C, XM_024453306.1:c.281T>C, XM_024453299.2:c.413T>C, XM_024453299.1:c.413T>C, XM_024453301.2:c.293T>C, XM_024453301.1:c.293T>C, XM_024453303.2:c.281T>C, XM_024453303.1:c.281T>C, XM_024453302.2:c.281T>C, XM_024453302.1:c.281T>C, XM_024453300.2:c.305T>C, XM_024453300.1:c.305T>C, XM_024453297.2:c.281T>C, XM_024453297.1:c.281T>C, XM_047447178.1:c.281T>C, XM_047447177.1:c.413T>C, XM_047447179.1:c.241T>C, XM_047447173.1:c.281T>C, XM_047447175.1:c.293T>C, XM_047447176.1:c.281T>C, XM_047447174.1:c.293T>C, NP_005784.1:p.Leu102Pro, XP_016861005.1:p.Ser89Pro, NP_001295356.1:p.Leu94Pro, NP_001295357.1:p.Leu94Pro, XP_016861004.1:p.Ser81Pro, NP_001295362.1:p.Ser81Pro, NP_001295359.1:p.Ser89Pro, NP_001295355.1:p.Leu94Pro, NP_001295360.1:p.Ser81Pro, NP_001295363.1:p.Leu49Pro, XP_016861006.1:p.Leu22Pro, XP_024309074.1:p.Leu94Pro, XP_024309067.1:p.Leu138Pro, XP_024309069.1:p.Leu98Pro, XP_024309071.1:p.Leu94Pro, XP_024309070.1:p.Leu94Pro, XP_024309068.1:p.Leu102Pro, XP_024309065.1:p.Leu94Pro, XP_047303134.1:p.Leu94Pro, XP_047303133.1:p.Leu138Pro, XP_047303135.1:p.Ser81Pro, XP_047303129.1:p.Leu94Pro, XP_047303131.1:p.Leu98Pro, XP_047303132.1:p.Leu94Pro, XP_047303130.1:p.Leu98Pro

                    10.

                    rs1442973826 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:48298478 (GRCh38)
                      3:48339968 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:48298477:G:A
                      Gene:
                      NME6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00003/1 (ALFA)
                      A=0.000012/3 (GnomAD_exomes)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000003.12:g.48298478G>A, NC_000003.11:g.48339968G>A, NM_005793.5:c.63C>T, NM_005793.4:c.63C>T, NM_005793.3:c.63C>T, XM_017005516.3:c.63C>T, XM_017005516.2:c.63C>T, XM_017005516.1:c.63C>T, NM_001308427.2:c.39C>T, NM_001308427.1:c.39C>T, NM_001308428.2:c.39C>T, NM_001308428.1:c.39C>T, XM_017005515.2:c.39C>T, XM_017005515.1:c.39C>T, NM_001308433.2:c.39C>T, NM_001308433.1:c.39C>T, NM_001308430.2:c.63C>T, NM_001308430.1:c.63C>T, NM_001308426.2:c.39C>T, NM_001308426.1:c.39C>T, NM_001308431.2:c.39C>T, NM_001308431.1:c.39C>T, NM_001308435.2:c.39C>T, NM_001308435.1:c.39C>T, XM_024453306.2:c.39C>T, XM_024453306.1:c.39C>T, XM_024453299.2:c.171C>T, XM_024453299.1:c.171C>T, XM_024453301.2:c.51C>T, XM_024453301.1:c.51C>T, XM_024453303.2:c.39C>T, XM_024453303.1:c.39C>T, XM_024453302.2:c.39C>T, XM_024453302.1:c.39C>T, XM_024453300.2:c.63C>T, XM_024453300.1:c.63C>T, XM_024453297.2:c.39C>T, XM_024453297.1:c.39C>T, XM_047447178.1:c.39C>T, XM_047447177.1:c.171C>T, XM_047447179.1:c.39C>T, XM_047447173.1:c.39C>T, XM_047447175.1:c.51C>T, XM_047447176.1:c.39C>T, XM_047447174.1:c.51C>T

                      11.

                      rs1437793883 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:48295235 (GRCh38)
                        3:48336725 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:48295234:G:A
                        Gene:
                        NME6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (GnomAD_exomes)
                        A=0.000011/3 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000003.12:g.48295235G>A, NC_000003.11:g.48336725G>A, NM_005793.5:c.258C>T, NM_005793.4:c.258C>T, NM_005793.3:c.258C>T, XM_017005516.3:c.218C>T, XM_017005516.2:c.218C>T, XM_017005516.1:c.218C>T, NM_001308427.2:c.234C>T, NM_001308427.1:c.234C>T, NM_001308428.2:c.234C>T, NM_001308428.1:c.234C>T, XM_017005515.2:c.194C>T, XM_017005515.1:c.194C>T, NM_001308433.2:c.194C>T, NM_001308433.1:c.194C>T, NM_001308430.2:c.218C>T, NM_001308430.1:c.218C>T, NM_001308426.2:c.234C>T, NM_001308426.1:c.234C>T, NM_001308431.2:c.194C>T, NM_001308431.1:c.194C>T, NM_001308434.2:c.99C>T, NM_001308434.1:c.99C>T, XM_017005517.2:c.18C>T, XM_017005517.1:c.18C>T, XM_024453306.2:c.234C>T, XM_024453306.1:c.234C>T, XM_024453299.2:c.366C>T, XM_024453299.1:c.366C>T, XM_024453301.2:c.246C>T, XM_024453301.1:c.246C>T, XM_024453303.2:c.234C>T, XM_024453303.1:c.234C>T, XM_024453302.2:c.234C>T, XM_024453302.1:c.234C>T, XM_024453300.2:c.258C>T, XM_024453300.1:c.258C>T, XM_024453297.2:c.234C>T, XM_024453297.1:c.234C>T, XM_047447178.1:c.234C>T, XM_047447177.1:c.366C>T, XM_047447179.1:c.194C>T, XM_047447173.1:c.234C>T, XM_047447175.1:c.246C>T, XM_047447176.1:c.234C>T, XM_047447174.1:c.246C>T, XP_016861005.1:p.Ala73Val, XP_016861004.1:p.Ala65Val, NP_001295362.1:p.Ala65Val, NP_001295359.1:p.Ala73Val, NP_001295360.1:p.Ala65Val, XP_047303135.1:p.Ala65Val

                        12.

                        rs1428629912 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:48295096 (GRCh38)
                          3:48336586 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:48295095:G:A
                          Gene:
                          NME6 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000106/2 (TOMMO)
                          HGVS:
                          NC_000003.12:g.48295096G>A, NC_000003.11:g.48336586G>A, NM_005793.5:c.397C>T, NM_005793.4:c.397C>T, NM_005793.3:c.397C>T, XM_017005516.3:c.357C>T, XM_017005516.2:c.357C>T, XM_017005516.1:c.357C>T, NM_001308427.2:c.373C>T, NM_001308427.1:c.373C>T, NM_001308428.2:c.373C>T, NM_001308428.1:c.373C>T, XM_017005515.2:c.333C>T, XM_017005515.1:c.333C>T, NM_001308433.2:c.333C>T, NM_001308433.1:c.333C>T, NM_001308430.2:c.357C>T, NM_001308430.1:c.357C>T, NM_001308426.2:c.373C>T, NM_001308426.1:c.373C>T, NM_001308431.2:c.333C>T, NM_001308431.1:c.333C>T, NM_001308434.2:c.238C>T, NM_001308434.1:c.238C>T, XM_017005517.2:c.157C>T, XM_017005517.1:c.157C>T, XM_024453306.2:c.373C>T, XM_024453306.1:c.373C>T, XM_024453299.2:c.505C>T, XM_024453299.1:c.505C>T, XM_024453301.2:c.385C>T, XM_024453301.1:c.385C>T, XM_024453303.2:c.373C>T, XM_024453303.1:c.373C>T, XM_024453302.2:c.373C>T, XM_024453302.1:c.373C>T, XM_024453300.2:c.397C>T, XM_024453300.1:c.397C>T, XM_024453297.2:c.373C>T, XM_024453297.1:c.373C>T, XM_047447178.1:c.373C>T, XM_047447177.1:c.505C>T, XM_047447179.1:c.333C>T, XM_047447173.1:c.373C>T, XM_047447175.1:c.385C>T, XM_047447176.1:c.373C>T, XM_047447174.1:c.385C>T, NP_005784.1:p.Arg133Cys, NP_001295356.1:p.Arg125Cys, NP_001295357.1:p.Arg125Cys, NP_001295355.1:p.Arg125Cys, NP_001295363.1:p.Arg80Cys, XP_016861006.1:p.Arg53Cys, XP_024309074.1:p.Arg125Cys, XP_024309067.1:p.Arg169Cys, XP_024309069.1:p.Arg129Cys, XP_024309071.1:p.Arg125Cys, XP_024309070.1:p.Arg125Cys, XP_024309068.1:p.Arg133Cys, XP_024309065.1:p.Arg125Cys, XP_047303134.1:p.Arg125Cys, XP_047303133.1:p.Arg169Cys, XP_047303129.1:p.Arg125Cys, XP_047303131.1:p.Arg129Cys, XP_047303132.1:p.Arg125Cys, XP_047303130.1:p.Arg129Cys

                          13.

                          rs1422653346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:48298470 (GRCh38)
                            3:48339960 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:48298469:G:A
                            Gene:
                            NME6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.48298470G>A, NC_000003.11:g.48339960G>A, NM_005793.5:c.71C>T, NM_005793.4:c.71C>T, NM_005793.3:c.71C>T, XM_017005516.3:c.71C>T, XM_017005516.2:c.71C>T, XM_017005516.1:c.71C>T, NM_001308427.2:c.47C>T, NM_001308427.1:c.47C>T, NM_001308428.2:c.47C>T, NM_001308428.1:c.47C>T, XM_017005515.2:c.47C>T, XM_017005515.1:c.47C>T, NM_001308433.2:c.47C>T, NM_001308433.1:c.47C>T, NM_001308430.2:c.71C>T, NM_001308430.1:c.71C>T, NM_001308426.2:c.47C>T, NM_001308426.1:c.47C>T, NM_001308431.2:c.47C>T, NM_001308431.1:c.47C>T, NM_001308435.2:c.47C>T, NM_001308435.1:c.47C>T, XM_024453306.2:c.47C>T, XM_024453306.1:c.47C>T, XM_024453299.2:c.179C>T, XM_024453299.1:c.179C>T, XM_024453301.2:c.59C>T, XM_024453301.1:c.59C>T, XM_024453303.2:c.47C>T, XM_024453303.1:c.47C>T, XM_024453302.2:c.47C>T, XM_024453302.1:c.47C>T, XM_024453300.2:c.71C>T, XM_024453300.1:c.71C>T, XM_024453297.2:c.47C>T, XM_024453297.1:c.47C>T, XM_047447178.1:c.47C>T, XM_047447177.1:c.179C>T, XM_047447179.1:c.47C>T, XM_047447173.1:c.47C>T, XM_047447175.1:c.59C>T, XM_047447176.1:c.47C>T, XM_047447174.1:c.59C>T, NP_005784.1:p.Ala24Val, XP_016861005.1:p.Ala24Val, NP_001295356.1:p.Ala16Val, NP_001295357.1:p.Ala16Val, XP_016861004.1:p.Ala16Val, NP_001295362.1:p.Ala16Val, NP_001295359.1:p.Ala24Val, NP_001295355.1:p.Ala16Val, NP_001295360.1:p.Ala16Val, NP_001295364.1:p.Ala16Val, XP_024309074.1:p.Ala16Val, XP_024309067.1:p.Ala60Val, XP_024309069.1:p.Ala20Val, XP_024309071.1:p.Ala16Val, XP_024309070.1:p.Ala16Val, XP_024309068.1:p.Ala24Val, XP_024309065.1:p.Ala16Val, XP_047303134.1:p.Ala16Val, XP_047303133.1:p.Ala60Val, XP_047303135.1:p.Ala16Val, XP_047303129.1:p.Ala16Val, XP_047303131.1:p.Ala20Val, XP_047303132.1:p.Ala16Val, XP_047303130.1:p.Ala20Val

                            14.

                            rs1419989578 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:48294800 (GRCh38)
                              3:48336290 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:48294799:G:A
                              Gene:
                              NME6 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,missense_variant,intron_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_000003.12:g.48294800G>A, NC_000003.11:g.48336290G>A, NM_005793.5:c.422C>T, NM_005793.4:c.422C>T, NM_005793.3:c.422C>T, NM_001308427.2:c.398C>T, NM_001308427.1:c.398C>T, NM_001308428.2:c.398C>T, NM_001308428.1:c.398C>T, XM_017005515.2:c.358C>T, XM_017005515.1:c.358C>T, NM_001308433.2:c.358C>T, NM_001308433.1:c.358C>T, NM_001308430.2:c.382C>T, NM_001308430.1:c.382C>T, NM_001308426.2:c.398C>T, NM_001308426.1:c.398C>T, NM_001308431.2:c.358C>T, NM_001308431.1:c.358C>T, NM_001308434.2:c.263C>T, NM_001308434.1:c.263C>T, XM_017005517.2:c.182C>T, XM_017005517.1:c.182C>T, NM_001308435.2:c.197C>T, NM_001308435.1:c.197C>T, XM_047447178.1:c.398C>T, XM_047447177.1:c.530C>T, XM_047447179.1:c.358C>T, XM_047447173.1:c.398C>T, XM_047447175.1:c.410C>T, NP_005784.1:p.Ser141Phe, NP_001295356.1:p.Ser133Phe, NP_001295357.1:p.Ser133Phe, NP_001295355.1:p.Ser133Phe, NP_001295363.1:p.Ser88Phe, XP_016861006.1:p.Ser61Phe, NP_001295364.1:p.Ser66Phe, XP_047303134.1:p.Ser133Phe, XP_047303133.1:p.Ser177Phe, XP_047303129.1:p.Ser133Phe, XP_047303131.1:p.Ser137Phe

                              15.

                              rs1395745420 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                3:48295079 (GRCh38)
                                3:48336569 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:48295078:A:G
                                Gene:
                                NME6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.48295079A>G, NC_000003.11:g.48336569A>G, NM_005793.5:c.414T>C, NM_005793.4:c.414T>C, NM_005793.3:c.414T>C, XM_017005516.3:c.374T>C, XM_017005516.2:c.374T>C, XM_017005516.1:c.374T>C, NM_001308427.2:c.390T>C, NM_001308427.1:c.390T>C, NM_001308428.2:c.390T>C, NM_001308428.1:c.390T>C, XM_017005515.2:c.350T>C, XM_017005515.1:c.350T>C, NM_001308433.2:c.350T>C, NM_001308433.1:c.350T>C, NM_001308430.2:c.374T>C, NM_001308430.1:c.374T>C, NM_001308426.2:c.390T>C, NM_001308426.1:c.390T>C, NM_001308431.2:c.350T>C, NM_001308431.1:c.350T>C, NM_001308434.2:c.255T>C, NM_001308434.1:c.255T>C, XM_017005517.2:c.174T>C, XM_017005517.1:c.174T>C, XM_024453306.2:c.390T>C, XM_024453306.1:c.390T>C, XM_024453299.2:c.522T>C, XM_024453299.1:c.522T>C, XM_024453301.2:c.402T>C, XM_024453301.1:c.402T>C, XM_024453303.2:c.390T>C, XM_024453303.1:c.390T>C, XM_024453302.2:c.390T>C, XM_024453302.1:c.390T>C, XM_024453300.2:c.414T>C, XM_024453300.1:c.414T>C, XM_024453297.2:c.390T>C, XM_024453297.1:c.390T>C, XM_047447178.1:c.390T>C, XM_047447177.1:c.522T>C, XM_047447179.1:c.350T>C, XM_047447173.1:c.390T>C, XM_047447175.1:c.402T>C, XM_047447176.1:c.390T>C, XM_047447174.1:c.402T>C, XP_016861005.1:p.Val125Ala, XP_016861004.1:p.Val117Ala, NP_001295362.1:p.Val117Ala, NP_001295359.1:p.Val125Ala, NP_001295360.1:p.Val117Ala, XP_047303135.1:p.Val117Ala

                                16.

                                rs1391545406 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  3:48295176 (GRCh38)
                                  3:48336666 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:48295175:A:T
                                  Gene:
                                  NME6 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.48295176A>T, NC_000003.11:g.48336666A>T, NM_005793.5:c.317T>A, NM_005793.4:c.317T>A, NM_005793.3:c.317T>A, XM_017005516.3:c.277T>A, XM_017005516.2:c.277T>A, XM_017005516.1:c.277T>A, NM_001308427.2:c.293T>A, NM_001308427.1:c.293T>A, NM_001308428.2:c.293T>A, NM_001308428.1:c.293T>A, XM_017005515.2:c.253T>A, XM_017005515.1:c.253T>A, NM_001308433.2:c.253T>A, NM_001308433.1:c.253T>A, NM_001308430.2:c.277T>A, NM_001308430.1:c.277T>A, NM_001308426.2:c.293T>A, NM_001308426.1:c.293T>A, NM_001308431.2:c.253T>A, NM_001308431.1:c.253T>A, NM_001308434.2:c.158T>A, NM_001308434.1:c.158T>A, XM_017005517.2:c.77T>A, XM_017005517.1:c.77T>A, XM_024453306.2:c.293T>A, XM_024453306.1:c.293T>A, XM_024453299.2:c.425T>A, XM_024453299.1:c.425T>A, XM_024453301.2:c.305T>A, XM_024453301.1:c.305T>A, XM_024453303.2:c.293T>A, XM_024453303.1:c.293T>A, XM_024453302.2:c.293T>A, XM_024453302.1:c.293T>A, XM_024453300.2:c.317T>A, XM_024453300.1:c.317T>A, XM_024453297.2:c.293T>A, XM_024453297.1:c.293T>A, XM_047447178.1:c.293T>A, XM_047447177.1:c.425T>A, XM_047447179.1:c.253T>A, XM_047447173.1:c.293T>A, XM_047447175.1:c.305T>A, XM_047447176.1:c.293T>A, XM_047447174.1:c.305T>A, NP_005784.1:p.Leu106His, XP_016861005.1:p.Ser93Thr, NP_001295356.1:p.Leu98His, NP_001295357.1:p.Leu98His, XP_016861004.1:p.Ser85Thr, NP_001295362.1:p.Ser85Thr, NP_001295359.1:p.Ser93Thr, NP_001295355.1:p.Leu98His, NP_001295360.1:p.Ser85Thr, NP_001295363.1:p.Leu53His, XP_016861006.1:p.Leu26His, XP_024309074.1:p.Leu98His, XP_024309067.1:p.Leu142His, XP_024309069.1:p.Leu102His, XP_024309071.1:p.Leu98His, XP_024309070.1:p.Leu98His, XP_024309068.1:p.Leu106His, XP_024309065.1:p.Leu98His, XP_047303134.1:p.Leu98His, XP_047303133.1:p.Leu142His, XP_047303135.1:p.Ser85Thr, XP_047303129.1:p.Leu98His, XP_047303131.1:p.Leu102His, XP_047303132.1:p.Leu98His, XP_047303130.1:p.Leu102His

                                  17.

                                  rs1388429905 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    3:48296798 (GRCh38)
                                    3:48338288 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:48296797:A:T
                                    Gene:
                                    NME6 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.48296798A>T, NC_000003.11:g.48338288A>T, NM_005793.5:c.146T>A, NM_005793.4:c.146T>A, NM_005793.3:c.146T>A, XM_017005516.3:c.146T>A, XM_017005516.2:c.146T>A, XM_017005516.1:c.146T>A, NM_001308427.2:c.122T>A, NM_001308427.1:c.122T>A, NM_001308428.2:c.122T>A, NM_001308428.1:c.122T>A, XM_017005515.2:c.122T>A, XM_017005515.1:c.122T>A, NM_001308433.2:c.122T>A, NM_001308433.1:c.122T>A, NM_001308430.2:c.146T>A, NM_001308430.1:c.146T>A, NM_001308426.2:c.122T>A, NM_001308426.1:c.122T>A, NM_001308431.2:c.122T>A, NM_001308431.1:c.122T>A, NM_001308434.2:c.-14T>A, NM_001308434.1:c.-14T>A, NM_001308435.2:c.122T>A, NM_001308435.1:c.122T>A, XM_024453306.2:c.122T>A, XM_024453306.1:c.122T>A, XM_024453299.2:c.254T>A, XM_024453299.1:c.254T>A, XM_024453301.2:c.134T>A, XM_024453301.1:c.134T>A, XM_024453303.2:c.122T>A, XM_024453303.1:c.122T>A, XM_024453302.2:c.122T>A, XM_024453302.1:c.122T>A, XM_024453300.2:c.146T>A, XM_024453300.1:c.146T>A, XM_024453297.2:c.122T>A, XM_024453297.1:c.122T>A, XM_047447178.1:c.122T>A, XM_047447177.1:c.254T>A, XM_047447179.1:c.122T>A, XM_047447173.1:c.122T>A, XM_047447175.1:c.134T>A, XM_047447176.1:c.122T>A, XM_047447174.1:c.134T>A, NP_005784.1:p.Phe49Tyr, XP_016861005.1:p.Phe49Tyr, NP_001295356.1:p.Phe41Tyr, NP_001295357.1:p.Phe41Tyr, XP_016861004.1:p.Phe41Tyr, NP_001295362.1:p.Phe41Tyr, NP_001295359.1:p.Phe49Tyr, NP_001295355.1:p.Phe41Tyr, NP_001295360.1:p.Phe41Tyr, NP_001295364.1:p.Phe41Tyr, XP_024309074.1:p.Phe41Tyr, XP_024309067.1:p.Phe85Tyr, XP_024309069.1:p.Phe45Tyr, XP_024309071.1:p.Phe41Tyr, XP_024309070.1:p.Phe41Tyr, XP_024309068.1:p.Phe49Tyr, XP_024309065.1:p.Phe41Tyr, XP_047303134.1:p.Phe41Tyr, XP_047303133.1:p.Phe85Tyr, XP_047303135.1:p.Phe41Tyr, XP_047303129.1:p.Phe41Tyr, XP_047303131.1:p.Phe45Tyr, XP_047303132.1:p.Phe41Tyr, XP_047303130.1:p.Phe45Tyr

                                    18.

                                    rs1374726893 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      3:48298509 (GRCh38)
                                      3:48339999 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:48298508:G:C
                                      Gene:
                                      NME6 (Varview)
                                      Functional Consequence:
                                      stop_gained,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.48298509G>C, NC_000003.11:g.48339999G>C, NM_005793.5:c.32C>G, NM_005793.4:c.32C>G, NM_005793.3:c.32C>G, XM_017005516.3:c.32C>G, XM_017005516.2:c.32C>G, XM_017005516.1:c.32C>G, NM_001308427.2:c.8C>G, NM_001308427.1:c.8C>G, NM_001308428.2:c.8C>G, NM_001308428.1:c.8C>G, XM_017005515.2:c.8C>G, XM_017005515.1:c.8C>G, NM_001308433.2:c.8C>G, NM_001308433.1:c.8C>G, NM_001308430.2:c.32C>G, NM_001308430.1:c.32C>G, NM_001308426.2:c.8C>G, NM_001308426.1:c.8C>G, NM_001308431.2:c.8C>G, NM_001308431.1:c.8C>G, NM_001308435.2:c.8C>G, NM_001308435.1:c.8C>G, XM_024453306.2:c.8C>G, XM_024453306.1:c.8C>G, XM_024453299.2:c.140C>G, XM_024453299.1:c.140C>G, XM_024453301.2:c.20C>G, XM_024453301.1:c.20C>G, XM_024453303.2:c.8C>G, XM_024453303.1:c.8C>G, XM_024453302.2:c.8C>G, XM_024453302.1:c.8C>G, XM_024453300.2:c.32C>G, XM_024453300.1:c.32C>G, XM_024453297.2:c.8C>G, XM_024453297.1:c.8C>G, XM_047447178.1:c.8C>G, XM_047447177.1:c.140C>G, XM_047447179.1:c.8C>G, XM_047447173.1:c.8C>G, XM_047447175.1:c.20C>G, XM_047447176.1:c.8C>G, XM_047447174.1:c.20C>G, NP_005784.1:p.Ser11Ter, XP_016861005.1:p.Ser11Ter, NP_001295356.1:p.Ser3Ter, NP_001295357.1:p.Ser3Ter, XP_016861004.1:p.Ser3Ter, NP_001295362.1:p.Ser3Ter, NP_001295359.1:p.Ser11Ter, NP_001295355.1:p.Ser3Ter, NP_001295360.1:p.Ser3Ter, NP_001295364.1:p.Ser3Ter, XP_024309074.1:p.Ser3Ter, XP_024309067.1:p.Ser47Ter, XP_024309069.1:p.Ser7Ter, XP_024309071.1:p.Ser3Ter, XP_024309070.1:p.Ser3Ter, XP_024309068.1:p.Ser11Ter, XP_024309065.1:p.Ser3Ter, XP_047303134.1:p.Ser3Ter, XP_047303133.1:p.Ser47Ter, XP_047303135.1:p.Ser3Ter, XP_047303129.1:p.Ser3Ter, XP_047303131.1:p.Ser7Ter, XP_047303132.1:p.Ser3Ter, XP_047303130.1:p.Ser7Ter

                                      19.

                                      rs1366691839 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:48294739 (GRCh38)
                                        3:48336229 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:48294738:C:T
                                        Gene:
                                        NME6 (Varview)
                                        Functional Consequence:
                                        missense_variant,stop_gained,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.48294739C>T, NC_000003.11:g.48336229C>T, NM_005793.5:c.483G>A, NM_005793.4:c.483G>A, NM_005793.3:c.483G>A, NM_001308427.2:c.459G>A, NM_001308427.1:c.459G>A, NM_001308428.2:c.459G>A, NM_001308428.1:c.459G>A, XM_017005515.2:c.419G>A, XM_017005515.1:c.419G>A, NM_001308433.2:c.419G>A, NM_001308433.1:c.419G>A, NM_001308430.2:c.443G>A, NM_001308430.1:c.443G>A, NM_001308426.2:c.459G>A, NM_001308426.1:c.459G>A, NM_001308431.2:c.419G>A, NM_001308431.1:c.419G>A, NM_001308434.2:c.324G>A, NM_001308434.1:c.324G>A, XM_017005517.2:c.243G>A, XM_017005517.1:c.243G>A, NM_001308435.2:c.258G>A, NM_001308435.1:c.258G>A, XM_047447178.1:c.459G>A, XM_047447177.1:c.591G>A, XM_047447179.1:c.419G>A, XM_047447173.1:c.459G>A, XM_047447175.1:c.471G>A, NP_005784.1:p.Trp161Ter, NP_001295356.1:p.Trp153Ter, NP_001295357.1:p.Trp153Ter, XP_016861004.1:p.Gly140Asp, NP_001295362.1:p.Gly140Asp, NP_001295359.1:p.Gly148Asp, NP_001295355.1:p.Trp153Ter, NP_001295360.1:p.Gly140Asp, NP_001295363.1:p.Trp108Ter, XP_016861006.1:p.Trp81Ter, NP_001295364.1:p.Trp86Ter, XP_047303134.1:p.Trp153Ter, XP_047303133.1:p.Trp197Ter, XP_047303135.1:p.Gly140Asp, XP_047303129.1:p.Trp153Ter, XP_047303131.1:p.Trp157Ter

                                        20.

                                        rs1364805379 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:48298469 (GRCh38)
                                          3:48339959 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:48298468:G:C
                                          Gene:
                                          NME6 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.48298469G>C, NC_000003.11:g.48339959G>C, NM_005793.5:c.72C>G, NM_005793.4:c.72C>G, NM_005793.3:c.72C>G, XM_017005516.3:c.72C>G, XM_017005516.2:c.72C>G, XM_017005516.1:c.72C>G, NM_001308427.2:c.48C>G, NM_001308427.1:c.48C>G, NM_001308428.2:c.48C>G, NM_001308428.1:c.48C>G, XM_017005515.2:c.48C>G, XM_017005515.1:c.48C>G, NM_001308433.2:c.48C>G, NM_001308433.1:c.48C>G, NM_001308430.2:c.72C>G, NM_001308430.1:c.72C>G, NM_001308426.2:c.48C>G, NM_001308426.1:c.48C>G, NM_001308431.2:c.48C>G, NM_001308431.1:c.48C>G, NM_001308435.2:c.48C>G, NM_001308435.1:c.48C>G, XM_024453306.2:c.48C>G, XM_024453306.1:c.48C>G, XM_024453299.2:c.180C>G, XM_024453299.1:c.180C>G, XM_024453301.2:c.60C>G, XM_024453301.1:c.60C>G, XM_024453303.2:c.48C>G, XM_024453303.1:c.48C>G, XM_024453302.2:c.48C>G, XM_024453302.1:c.48C>G, XM_024453300.2:c.72C>G, XM_024453300.1:c.72C>G, XM_024453297.2:c.48C>G, XM_024453297.1:c.48C>G, XM_047447178.1:c.48C>G, XM_047447177.1:c.180C>G, XM_047447179.1:c.48C>G, XM_047447173.1:c.48C>G, XM_047447175.1:c.60C>G, XM_047447176.1:c.48C>G, XM_047447174.1:c.60C>G

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