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Items: 1 to 20 of 669

1.

rs1490994717 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    10:110100721 (GRCh38)
    10:111860479 (GRCh37)
    Canonical SPDI:
    NC_000010.11:110100715:AGAGAGA:AGAGA
    Gene:
    ADD3 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAGA=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000011/3 (TOPMED)
    HGVS:
    NC_000010.11:g.110100717GA[2], NC_000010.10:g.111860475GA[2], NG_051033.1:g.109368GA[2], NM_016824.5:c.68_69del, NM_016824.4:c.68_69del, NM_016824.3:c.68_69del, NM_019903.5:c.68_69del, NM_019903.4:c.68_69del, NM_019903.3:c.68_69del, NM_001121.4:c.68_69del, NM_001121.3:c.68_69del, NM_001121.2:c.68_69del, NM_001320594.2:c.-225GA[2], NM_001320594.1:c.-225GA[2], NM_001320591.2:c.68_69del, NM_001320591.1:c.68_69del, NM_001320592.2:c.68_69del, NM_001320592.1:c.68_69del, NM_001320593.2:c.68_69del, NM_001320593.1:c.68_69del, XM_024447800.2:c.68_69del, XM_024447800.1:c.68_69del, XM_024447796.2:c.68_69del, XM_024447796.1:c.68_69del, XM_024447805.2:c.68_69del, XM_024447805.1:c.68_69del, XM_024447797.2:c.68_69del, XM_024447797.1:c.68_69del, XM_024447806.2:c.68_69del, XM_024447806.1:c.68_69del, XM_024447802.2:c.68_69del, XM_024447802.1:c.68_69del, XM_024447794.2:c.68_69del, XM_024447794.1:c.68_69del, XM_024447803.2:c.68_69del, XM_024447803.1:c.68_69del, XM_024447799.2:c.68_69del, XM_024447799.1:c.68_69del, XM_047424589.1:c.68_69del, XM_047424591.1:c.68_69del, XM_047424593.1:c.68_69del, XM_047424594.1:c.68_69del, XM_024447801.1:c.68_69del, XM_024447795.1:c.68_69del, XM_024447807.1:c.68_69del, XM_024447804.1:c.68_69del, XM_047424588.1:c.68_69del, XM_047424590.1:c.68_69del, XM_047424587.1:c.68_69del, XM_024447798.1:c.68_69del, XM_047424592.1:c.68_69del, XM_047424595.1:c.68_69del, NP_058432.1:p.Arg23fs, NP_063968.1:p.Arg23fs, NP_001112.2:p.Arg23fs, NP_001307520.1:p.Arg23fs, NP_001307521.1:p.Arg23fs, NP_001307522.1:p.Arg23fs, XP_024303568.1:p.Arg23fs, XP_024303564.1:p.Arg23fs, XP_024303573.1:p.Arg23fs, XP_024303565.1:p.Arg23fs, XP_024303574.1:p.Arg23fs, XP_024303570.1:p.Arg23fs, XP_024303562.1:p.Arg23fs, XP_024303571.1:p.Arg23fs, XP_024303567.1:p.Arg23fs, XP_047280545.1:p.Arg23fs, XP_047280547.1:p.Arg23fs, XP_047280549.1:p.Arg23fs, XP_047280550.1:p.Arg23fs, XP_024303569.1:p.Arg23fs, XP_024303563.1:p.Arg23fs, XP_024303575.1:p.Arg23fs, XP_024303572.1:p.Arg23fs, XP_047280544.1:p.Arg23fs, XP_047280546.1:p.Arg23fs, XP_047280543.1:p.Arg23fs, XP_024303566.1:p.Arg23fs, XP_047280548.1:p.Arg23fs, XP_047280551.1:p.Arg23fs

    2.

    rs1490843093 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      10:110116313 (GRCh38)
      10:111876071 (GRCh37)
      Canonical SPDI:
      NC_000010.11:110116312:A:T
      Gene:
      ADD3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000010.11:g.110116313A>T, NC_000010.10:g.111876071A>T, NG_051033.1:g.124964A>T, NM_016824.5:c.389A>T, NM_016824.4:c.389A>T, NM_016824.3:c.389A>T, NM_019903.5:c.389A>T, NM_019903.4:c.389A>T, NM_019903.3:c.389A>T, NM_001121.4:c.389A>T, NM_001121.3:c.389A>T, NM_001121.2:c.389A>T, NM_001320594.2:c.155A>T, NM_001320594.1:c.155A>T, NM_001320591.2:c.389A>T, NM_001320591.1:c.389A>T, NM_001320592.2:c.389A>T, NM_001320592.1:c.389A>T, NM_001320593.2:c.389A>T, NM_001320593.1:c.389A>T, XM_024447800.2:c.389A>T, XM_024447800.1:c.389A>T, XM_024447796.2:c.389A>T, XM_024447796.1:c.389A>T, XM_024447805.2:c.389A>T, XM_024447805.1:c.389A>T, XM_024447797.2:c.389A>T, XM_024447797.1:c.389A>T, XM_024447806.2:c.389A>T, XM_024447806.1:c.389A>T, XM_024447802.2:c.389A>T, XM_024447802.1:c.389A>T, XM_024447794.2:c.389A>T, XM_024447794.1:c.389A>T, XM_024447803.2:c.389A>T, XM_024447803.1:c.389A>T, XM_024447799.2:c.389A>T, XM_024447799.1:c.389A>T, XM_047424589.1:c.389A>T, XM_047424591.1:c.389A>T, XM_047424593.1:c.389A>T, XM_047424594.1:c.389A>T, XM_024447801.1:c.389A>T, XM_024447795.1:c.389A>T, XM_024447807.1:c.389A>T, XM_024447804.1:c.389A>T, XM_047424588.1:c.389A>T, XM_047424590.1:c.389A>T, XM_047424587.1:c.389A>T, XM_024447798.1:c.389A>T, XM_047424592.1:c.389A>T, XM_047424595.1:c.389A>T, NP_058432.1:p.Tyr130Phe, NP_063968.1:p.Tyr130Phe, NP_001112.2:p.Tyr130Phe, NP_001307523.1:p.Tyr52Phe, NP_001307520.1:p.Tyr130Phe, NP_001307521.1:p.Tyr130Phe, NP_001307522.1:p.Tyr130Phe, XP_024303568.1:p.Tyr130Phe, XP_024303564.1:p.Tyr130Phe, XP_024303573.1:p.Tyr130Phe, XP_024303565.1:p.Tyr130Phe, XP_024303574.1:p.Tyr130Phe, XP_024303570.1:p.Tyr130Phe, XP_024303562.1:p.Tyr130Phe, XP_024303571.1:p.Tyr130Phe, XP_024303567.1:p.Tyr130Phe, XP_047280545.1:p.Tyr130Phe, XP_047280547.1:p.Tyr130Phe, XP_047280549.1:p.Tyr130Phe, XP_047280550.1:p.Tyr130Phe, XP_024303569.1:p.Tyr130Phe, XP_024303563.1:p.Tyr130Phe, XP_024303575.1:p.Tyr130Phe, XP_024303572.1:p.Tyr130Phe, XP_047280544.1:p.Tyr130Phe, XP_047280546.1:p.Tyr130Phe, XP_047280543.1:p.Tyr130Phe, XP_024303566.1:p.Tyr130Phe, XP_047280548.1:p.Tyr130Phe, XP_047280551.1:p.Tyr130Phe

      3.

      rs1488644000 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:110100800 (GRCh38)
        10:111860558 (GRCh37)
        Canonical SPDI:
        NC_000010.11:110100799:C:T
        Gene:
        ADD3 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (GnomAD_exomes)
        T=0.000014/2 (GnomAD)
        T=0.000015/4 (TOPMED)
        HGVS:
        NC_000010.11:g.110100800C>T, NC_000010.10:g.111860558C>T, NG_051033.1:g.109451C>T, NM_016824.5:c.147C>T, NM_016824.4:c.147C>T, NM_016824.3:c.147C>T, NM_019903.5:c.147C>T, NM_019903.4:c.147C>T, NM_019903.3:c.147C>T, NM_001121.4:c.147C>T, NM_001121.3:c.147C>T, NM_001121.2:c.147C>T, NM_001320594.2:c.-142C>T, NM_001320594.1:c.-142C>T, NM_001320591.2:c.147C>T, NM_001320591.1:c.147C>T, NM_001320592.2:c.147C>T, NM_001320592.1:c.147C>T, NM_001320593.2:c.147C>T, NM_001320593.1:c.147C>T, XM_024447800.2:c.147C>T, XM_024447800.1:c.147C>T, XM_024447796.2:c.147C>T, XM_024447796.1:c.147C>T, XM_024447805.2:c.147C>T, XM_024447805.1:c.147C>T, XM_024447797.2:c.147C>T, XM_024447797.1:c.147C>T, XM_024447806.2:c.147C>T, XM_024447806.1:c.147C>T, XM_024447802.2:c.147C>T, XM_024447802.1:c.147C>T, XM_024447794.2:c.147C>T, XM_024447794.1:c.147C>T, XM_024447803.2:c.147C>T, XM_024447803.1:c.147C>T, XM_024447799.2:c.147C>T, XM_024447799.1:c.147C>T, XM_047424589.1:c.147C>T, XM_047424591.1:c.147C>T, XM_047424593.1:c.147C>T, XM_047424594.1:c.147C>T, XM_024447801.1:c.147C>T, XM_024447795.1:c.147C>T, XM_024447807.1:c.147C>T, XM_024447804.1:c.147C>T, XM_047424588.1:c.147C>T, XM_047424590.1:c.147C>T, XM_047424587.1:c.147C>T, XM_024447798.1:c.147C>T, XM_047424592.1:c.147C>T, XM_047424595.1:c.147C>T

        4.

        rs1488233752 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          10:110133482 (GRCh38)
          10:111893240 (GRCh37)
          Canonical SPDI:
          NC_000010.11:110133481:T:A,NC_000010.11:110133481:T:C
          Gene:
          ADD3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.110133482T>A, NC_000010.11:g.110133482T>C, NC_000010.10:g.111893240T>A, NC_000010.10:g.111893240T>C, NG_051033.1:g.142133T>A, NG_051033.1:g.142133T>C, NM_016824.5:c.1985T>A, NM_016824.5:c.1985T>C, NM_016824.4:c.1985T>A, NM_016824.4:c.1985T>C, NM_016824.3:c.1985T>A, NM_016824.3:c.1985T>C, NM_019903.5:c.1889T>A, NM_019903.5:c.1889T>C, NM_019903.4:c.1889T>A, NM_019903.4:c.1889T>C, NM_019903.3:c.1889T>A, NM_019903.3:c.1889T>C, NM_001121.4:c.1889T>A, NM_001121.4:c.1889T>C, NM_001121.3:c.1889T>A, NM_001121.3:c.1889T>C, NM_001121.2:c.1889T>A, NM_001121.2:c.1889T>C, NM_001320594.2:c.1751T>A, NM_001320594.2:c.1751T>C, NM_001320594.1:c.1751T>A, NM_001320594.1:c.1751T>C, NM_001320591.2:c.1985T>A, NM_001320591.2:c.1985T>C, NM_001320591.1:c.1985T>A, NM_001320591.1:c.1985T>C, NM_001320592.2:c.1985T>A, NM_001320592.2:c.1985T>C, NM_001320592.1:c.1985T>A, NM_001320592.1:c.1985T>C, NM_001320593.2:c.1985T>A, NM_001320593.2:c.1985T>C, NM_001320593.1:c.1985T>A, NM_001320593.1:c.1985T>C, XM_024447800.2:c.1985T>A, XM_024447800.2:c.1985T>C, XM_024447800.1:c.1985T>A, XM_024447800.1:c.1985T>C, XM_024447796.2:c.1985T>A, XM_024447796.2:c.1985T>C, XM_024447796.1:c.1985T>A, XM_024447796.1:c.1985T>C, XM_024447805.2:c.1889T>A, XM_024447805.2:c.1889T>C, XM_024447805.1:c.1889T>A, XM_024447805.1:c.1889T>C, XM_024447797.2:c.1985T>A, XM_024447797.2:c.1985T>C, XM_024447797.1:c.1985T>A, XM_024447797.1:c.1985T>C, XM_024447806.2:c.1889T>A, XM_024447806.2:c.1889T>C, XM_024447806.1:c.1889T>A, XM_024447806.1:c.1889T>C, XM_024447802.2:c.1985T>A, XM_024447802.2:c.1985T>C, XM_024447802.1:c.1985T>A, XM_024447802.1:c.1985T>C, XM_024447794.2:c.1985T>A, XM_024447794.2:c.1985T>C, XM_024447794.1:c.1985T>A, XM_024447794.1:c.1985T>C, XM_024447803.2:c.1889T>A, XM_024447803.2:c.1889T>C, XM_024447803.1:c.1889T>A, XM_024447803.1:c.1889T>C, XM_024447799.2:c.1985T>A, XM_024447799.2:c.1985T>C, XM_024447799.1:c.1985T>A, XM_024447799.1:c.1985T>C, XM_047424589.1:c.1985T>A, XM_047424589.1:c.1985T>C, XM_047424591.1:c.1985T>A, XM_047424591.1:c.1985T>C, XM_047424593.1:c.1889T>A, XM_047424593.1:c.1889T>C, XM_047424594.1:c.1889T>A, XM_047424594.1:c.1889T>C, XM_024447801.1:c.1985T>A, XM_024447801.1:c.1985T>C, XM_024447795.1:c.1985T>A, XM_024447795.1:c.1985T>C, XM_024447807.1:c.1889T>A, XM_024447807.1:c.1889T>C, XM_024447804.1:c.1889T>A, XM_024447804.1:c.1889T>C, XM_047424588.1:c.1985T>A, XM_047424588.1:c.1985T>C, XM_047424590.1:c.1985T>A, XM_047424590.1:c.1985T>C, XM_047424587.1:c.1985T>A, XM_047424587.1:c.1985T>C, XM_024447798.1:c.1985T>A, XM_024447798.1:c.1985T>C, XM_047424592.1:c.1889T>A, XM_047424592.1:c.1889T>C, XM_047424595.1:c.1889T>A, XM_047424595.1:c.1889T>C, XM_047424597.1:c.1259T>A, XM_047424597.1:c.1259T>C, NP_058432.1:p.Ile662Asn, NP_058432.1:p.Ile662Thr, NP_063968.1:p.Ile630Asn, NP_063968.1:p.Ile630Thr, NP_001112.2:p.Ile630Asn, NP_001112.2:p.Ile630Thr, NP_001307523.1:p.Ile584Asn, NP_001307523.1:p.Ile584Thr, NP_001307520.1:p.Ile662Asn, NP_001307520.1:p.Ile662Thr, NP_001307521.1:p.Ile662Asn, NP_001307521.1:p.Ile662Thr, NP_001307522.1:p.Ile662Asn, NP_001307522.1:p.Ile662Thr, XP_024303568.1:p.Ile662Asn, XP_024303568.1:p.Ile662Thr, XP_024303564.1:p.Ile662Asn, XP_024303564.1:p.Ile662Thr, XP_024303573.1:p.Ile630Asn, XP_024303573.1:p.Ile630Thr, XP_024303565.1:p.Ile662Asn, XP_024303565.1:p.Ile662Thr, XP_024303574.1:p.Ile630Asn, XP_024303574.1:p.Ile630Thr, XP_024303570.1:p.Ile662Asn, XP_024303570.1:p.Ile662Thr, XP_024303562.1:p.Ile662Asn, XP_024303562.1:p.Ile662Thr, XP_024303571.1:p.Ile630Asn, XP_024303571.1:p.Ile630Thr, XP_024303567.1:p.Ile662Asn, XP_024303567.1:p.Ile662Thr, XP_047280545.1:p.Ile662Asn, XP_047280545.1:p.Ile662Thr, XP_047280547.1:p.Ile662Asn, XP_047280547.1:p.Ile662Thr, XP_047280549.1:p.Ile630Asn, XP_047280549.1:p.Ile630Thr, XP_047280550.1:p.Ile630Asn, XP_047280550.1:p.Ile630Thr, XP_024303569.1:p.Ile662Asn, XP_024303569.1:p.Ile662Thr, XP_024303563.1:p.Ile662Asn, XP_024303563.1:p.Ile662Thr, XP_024303575.1:p.Ile630Asn, XP_024303575.1:p.Ile630Thr, XP_024303572.1:p.Ile630Asn, XP_024303572.1:p.Ile630Thr, XP_047280544.1:p.Ile662Asn, XP_047280544.1:p.Ile662Thr, XP_047280546.1:p.Ile662Asn, XP_047280546.1:p.Ile662Thr, XP_047280543.1:p.Ile662Asn, XP_047280543.1:p.Ile662Thr, XP_024303566.1:p.Ile662Asn, XP_024303566.1:p.Ile662Thr, XP_047280548.1:p.Ile630Asn, XP_047280548.1:p.Ile630Thr, XP_047280551.1:p.Ile630Asn, XP_047280551.1:p.Ile630Thr, XP_047280553.1:p.Ile420Asn, XP_047280553.1:p.Ile420Thr

          5.

          rs1488019151 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:110112857 (GRCh38)
            10:111872615 (GRCh37)
            Canonical SPDI:
            NC_000010.11:110112856:G:A
            Gene:
            ADD3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.110112857G>A, NC_000010.10:g.111872615G>A, NG_051033.1:g.121508G>A, NM_016824.5:c.276G>A, NM_016824.4:c.276G>A, NM_016824.3:c.276G>A, NM_019903.5:c.276G>A, NM_019903.4:c.276G>A, NM_019903.3:c.276G>A, NM_001121.4:c.276G>A, NM_001121.3:c.276G>A, NM_001121.2:c.276G>A, NM_001320594.2:c.42G>A, NM_001320594.1:c.42G>A, NM_001320591.2:c.276G>A, NM_001320591.1:c.276G>A, NM_001320592.2:c.276G>A, NM_001320592.1:c.276G>A, NM_001320593.2:c.276G>A, NM_001320593.1:c.276G>A, XM_024447800.2:c.276G>A, XM_024447800.1:c.276G>A, XM_024447796.2:c.276G>A, XM_024447796.1:c.276G>A, XM_024447805.2:c.276G>A, XM_024447805.1:c.276G>A, XM_024447797.2:c.276G>A, XM_024447797.1:c.276G>A, XM_024447806.2:c.276G>A, XM_024447806.1:c.276G>A, XM_024447802.2:c.276G>A, XM_024447802.1:c.276G>A, XM_024447794.2:c.276G>A, XM_024447794.1:c.276G>A, XM_024447803.2:c.276G>A, XM_024447803.1:c.276G>A, XM_024447799.2:c.276G>A, XM_024447799.1:c.276G>A, XM_047424589.1:c.276G>A, XM_047424591.1:c.276G>A, XM_047424593.1:c.276G>A, XM_047424594.1:c.276G>A, XM_024447801.1:c.276G>A, XM_024447795.1:c.276G>A, XM_024447807.1:c.276G>A, XM_024447804.1:c.276G>A, XM_047424588.1:c.276G>A, XM_047424590.1:c.276G>A, XM_047424587.1:c.276G>A, XM_024447798.1:c.276G>A, XM_047424592.1:c.276G>A, XM_047424595.1:c.276G>A, XM_047424597.1:c.-299G>A

            6.

            rs1487291216 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              10:110117381 (GRCh38)
              10:111877139 (GRCh37)
              Canonical SPDI:
              NC_000010.11:110117380:C:G
              Gene:
              ADD3 (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.110117381C>G, NC_000010.10:g.111877139C>G, NG_051033.1:g.126032C>G, NM_016824.5:c.526C>G, NM_016824.4:c.526C>G, NM_016824.3:c.526C>G, NM_019903.5:c.526C>G, NM_019903.4:c.526C>G, NM_019903.3:c.526C>G, NM_001121.4:c.526C>G, NM_001121.3:c.526C>G, NM_001121.2:c.526C>G, NM_001320594.2:c.292C>G, NM_001320594.1:c.292C>G, NM_001320591.2:c.526C>G, NM_001320591.1:c.526C>G, NM_001320592.2:c.526C>G, NM_001320592.1:c.526C>G, NM_001320593.2:c.526C>G, NM_001320593.1:c.526C>G, XM_024447800.2:c.526C>G, XM_024447800.1:c.526C>G, XM_024447796.2:c.526C>G, XM_024447796.1:c.526C>G, XM_024447805.2:c.526C>G, XM_024447805.1:c.526C>G, XM_024447797.2:c.526C>G, XM_024447797.1:c.526C>G, XM_024447806.2:c.526C>G, XM_024447806.1:c.526C>G, XM_024447802.2:c.526C>G, XM_024447802.1:c.526C>G, XM_024447794.2:c.526C>G, XM_024447794.1:c.526C>G, XM_024447803.2:c.526C>G, XM_024447803.1:c.526C>G, XM_024447799.2:c.526C>G, XM_024447799.1:c.526C>G, XM_047424589.1:c.526C>G, XM_047424591.1:c.526C>G, XM_047424593.1:c.526C>G, XM_047424594.1:c.526C>G, XM_024447801.1:c.526C>G, XM_024447795.1:c.526C>G, XM_024447807.1:c.526C>G, XM_024447804.1:c.526C>G, XM_047424588.1:c.526C>G, XM_047424590.1:c.526C>G, XM_047424587.1:c.526C>G, XM_024447798.1:c.526C>G, XM_047424592.1:c.526C>G, XM_047424595.1:c.526C>G, XM_047424597.1:c.-201C>G, NP_058432.1:p.Pro176Ala, NP_063968.1:p.Pro176Ala, NP_001112.2:p.Pro176Ala, NP_001307523.1:p.Pro98Ala, NP_001307520.1:p.Pro176Ala, NP_001307521.1:p.Pro176Ala, NP_001307522.1:p.Pro176Ala, XP_024303568.1:p.Pro176Ala, XP_024303564.1:p.Pro176Ala, XP_024303573.1:p.Pro176Ala, XP_024303565.1:p.Pro176Ala, XP_024303574.1:p.Pro176Ala, XP_024303570.1:p.Pro176Ala, XP_024303562.1:p.Pro176Ala, XP_024303571.1:p.Pro176Ala, XP_024303567.1:p.Pro176Ala, XP_047280545.1:p.Pro176Ala, XP_047280547.1:p.Pro176Ala, XP_047280549.1:p.Pro176Ala, XP_047280550.1:p.Pro176Ala, XP_024303569.1:p.Pro176Ala, XP_024303563.1:p.Pro176Ala, XP_024303575.1:p.Pro176Ala, XP_024303572.1:p.Pro176Ala, XP_047280544.1:p.Pro176Ala, XP_047280546.1:p.Pro176Ala, XP_047280543.1:p.Pro176Ala, XP_024303566.1:p.Pro176Ala, XP_047280548.1:p.Pro176Ala, XP_047280551.1:p.Pro176Ala

              7.

              rs1484429027 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:110133458 (GRCh38)
                10:111893216 (GRCh37)
                Canonical SPDI:
                NC_000010.11:110133457:C:T
                Gene:
                ADD3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.110133458C>T, NC_000010.10:g.111893216C>T, NG_051033.1:g.142109C>T, NM_016824.5:c.1961C>T, NM_016824.4:c.1961C>T, NM_016824.3:c.1961C>T, NM_019903.5:c.1865C>T, NM_019903.4:c.1865C>T, NM_019903.3:c.1865C>T, NM_001121.4:c.1865C>T, NM_001121.3:c.1865C>T, NM_001121.2:c.1865C>T, NM_001320594.2:c.1727C>T, NM_001320594.1:c.1727C>T, NM_001320591.2:c.1961C>T, NM_001320591.1:c.1961C>T, NM_001320592.2:c.1961C>T, NM_001320592.1:c.1961C>T, NM_001320593.2:c.1961C>T, NM_001320593.1:c.1961C>T, XM_024447800.2:c.1961C>T, XM_024447800.1:c.1961C>T, XM_024447796.2:c.1961C>T, XM_024447796.1:c.1961C>T, XM_024447805.2:c.1865C>T, XM_024447805.1:c.1865C>T, XM_024447797.2:c.1961C>T, XM_024447797.1:c.1961C>T, XM_024447806.2:c.1865C>T, XM_024447806.1:c.1865C>T, XM_024447802.2:c.1961C>T, XM_024447802.1:c.1961C>T, XM_024447794.2:c.1961C>T, XM_024447794.1:c.1961C>T, XM_024447803.2:c.1865C>T, XM_024447803.1:c.1865C>T, XM_024447799.2:c.1961C>T, XM_024447799.1:c.1961C>T, XM_047424589.1:c.1961C>T, XM_047424591.1:c.1961C>T, XM_047424593.1:c.1865C>T, XM_047424594.1:c.1865C>T, XM_024447801.1:c.1961C>T, XM_024447795.1:c.1961C>T, XM_024447807.1:c.1865C>T, XM_024447804.1:c.1865C>T, XM_047424588.1:c.1961C>T, XM_047424590.1:c.1961C>T, XM_047424587.1:c.1961C>T, XM_024447798.1:c.1961C>T, XM_047424592.1:c.1865C>T, XM_047424595.1:c.1865C>T, XM_047424597.1:c.1235C>T, NP_058432.1:p.Thr654Ile, NP_063968.1:p.Thr622Ile, NP_001112.2:p.Thr622Ile, NP_001307523.1:p.Thr576Ile, NP_001307520.1:p.Thr654Ile, NP_001307521.1:p.Thr654Ile, NP_001307522.1:p.Thr654Ile, XP_024303568.1:p.Thr654Ile, XP_024303564.1:p.Thr654Ile, XP_024303573.1:p.Thr622Ile, XP_024303565.1:p.Thr654Ile, XP_024303574.1:p.Thr622Ile, XP_024303570.1:p.Thr654Ile, XP_024303562.1:p.Thr654Ile, XP_024303571.1:p.Thr622Ile, XP_024303567.1:p.Thr654Ile, XP_047280545.1:p.Thr654Ile, XP_047280547.1:p.Thr654Ile, XP_047280549.1:p.Thr622Ile, XP_047280550.1:p.Thr622Ile, XP_024303569.1:p.Thr654Ile, XP_024303563.1:p.Thr654Ile, XP_024303575.1:p.Thr622Ile, XP_024303572.1:p.Thr622Ile, XP_047280544.1:p.Thr654Ile, XP_047280546.1:p.Thr654Ile, XP_047280543.1:p.Thr654Ile, XP_024303566.1:p.Thr654Ile, XP_047280548.1:p.Thr622Ile, XP_047280551.1:p.Thr622Ile, XP_047280553.1:p.Thr412Ile

                8.

                rs1483344691 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  10:110130446 (GRCh38)
                  10:111890204 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:110130445:G:C
                  Gene:
                  ADD3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000010.11:g.110130446G>C, NC_000010.10:g.111890204G>C, NG_051033.1:g.139097G>C, NM_016824.5:c.1692G>C, NM_016824.4:c.1692G>C, NM_016824.3:c.1692G>C, NM_019903.5:c.1692G>C, NM_019903.4:c.1692G>C, NM_019903.3:c.1692G>C, NM_001121.4:c.1692G>C, NM_001121.3:c.1692G>C, NM_001121.2:c.1692G>C, NM_001320594.2:c.1458G>C, NM_001320594.1:c.1458G>C, NM_001320591.2:c.1692G>C, NM_001320591.1:c.1692G>C, NM_001320592.2:c.1692G>C, NM_001320592.1:c.1692G>C, NM_001320593.2:c.1692G>C, NM_001320593.1:c.1692G>C, XM_024447800.2:c.1692G>C, XM_024447800.1:c.1692G>C, XM_024447796.2:c.1692G>C, XM_024447796.1:c.1692G>C, XM_024447805.2:c.1692G>C, XM_024447805.1:c.1692G>C, XM_024447797.2:c.1692G>C, XM_024447797.1:c.1692G>C, XM_024447806.2:c.1692G>C, XM_024447806.1:c.1692G>C, XM_024447802.2:c.1692G>C, XM_024447802.1:c.1692G>C, XM_024447794.2:c.1692G>C, XM_024447794.1:c.1692G>C, XM_024447803.2:c.1692G>C, XM_024447803.1:c.1692G>C, XM_024447799.2:c.1692G>C, XM_024447799.1:c.1692G>C, XM_047424589.1:c.1692G>C, XM_047424591.1:c.1692G>C, XM_047424593.1:c.1692G>C, XM_047424594.1:c.1692G>C, XM_024447801.1:c.1692G>C, XM_024447795.1:c.1692G>C, XM_024447807.1:c.1692G>C, XM_024447804.1:c.1692G>C, XM_047424588.1:c.1692G>C, XM_047424590.1:c.1692G>C, XM_047424587.1:c.1692G>C, XM_024447798.1:c.1692G>C, XM_047424592.1:c.1692G>C, XM_047424595.1:c.1692G>C, XM_047424597.1:c.966G>C, NP_058432.1:p.Glu564Asp, NP_063968.1:p.Glu564Asp, NP_001112.2:p.Glu564Asp, NP_001307523.1:p.Glu486Asp, NP_001307520.1:p.Glu564Asp, NP_001307521.1:p.Glu564Asp, NP_001307522.1:p.Glu564Asp, XP_024303568.1:p.Glu564Asp, XP_024303564.1:p.Glu564Asp, XP_024303573.1:p.Glu564Asp, XP_024303565.1:p.Glu564Asp, XP_024303574.1:p.Glu564Asp, XP_024303570.1:p.Glu564Asp, XP_024303562.1:p.Glu564Asp, XP_024303571.1:p.Glu564Asp, XP_024303567.1:p.Glu564Asp, XP_047280545.1:p.Glu564Asp, XP_047280547.1:p.Glu564Asp, XP_047280549.1:p.Glu564Asp, XP_047280550.1:p.Glu564Asp, XP_024303569.1:p.Glu564Asp, XP_024303563.1:p.Glu564Asp, XP_024303575.1:p.Glu564Asp, XP_024303572.1:p.Glu564Asp, XP_047280544.1:p.Glu564Asp, XP_047280546.1:p.Glu564Asp, XP_047280543.1:p.Glu564Asp, XP_024303566.1:p.Glu564Asp, XP_047280548.1:p.Glu564Asp, XP_047280551.1:p.Glu564Asp, XP_047280553.1:p.Glu322Asp

                  9.

                  rs1482745780 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    10:110119515 (GRCh38)
                    10:111879273 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:110119514:A:T
                    Gene:
                    ADD3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000010.11:g.110119515A>T, NC_000010.10:g.111879273A>T, NG_051033.1:g.128166A>T, NM_016824.5:c.911A>T, NM_016824.4:c.911A>T, NM_016824.3:c.911A>T, NM_019903.5:c.911A>T, NM_019903.4:c.911A>T, NM_019903.3:c.911A>T, NM_001121.4:c.911A>T, NM_001121.3:c.911A>T, NM_001121.2:c.911A>T, NM_001320594.2:c.677A>T, NM_001320594.1:c.677A>T, NM_001320591.2:c.911A>T, NM_001320591.1:c.911A>T, NM_001320592.2:c.911A>T, NM_001320592.1:c.911A>T, NM_001320593.2:c.911A>T, NM_001320593.1:c.911A>T, XM_024447800.2:c.911A>T, XM_024447800.1:c.911A>T, XM_024447796.2:c.911A>T, XM_024447796.1:c.911A>T, XM_024447805.2:c.911A>T, XM_024447805.1:c.911A>T, XM_024447797.2:c.911A>T, XM_024447797.1:c.911A>T, XM_024447806.2:c.911A>T, XM_024447806.1:c.911A>T, XM_024447802.2:c.911A>T, XM_024447802.1:c.911A>T, XM_024447794.2:c.911A>T, XM_024447794.1:c.911A>T, XM_024447803.2:c.911A>T, XM_024447803.1:c.911A>T, XM_024447799.2:c.911A>T, XM_024447799.1:c.911A>T, XM_047424589.1:c.911A>T, XM_047424591.1:c.911A>T, XM_047424593.1:c.911A>T, XM_047424594.1:c.911A>T, XM_024447801.1:c.911A>T, XM_024447795.1:c.911A>T, XM_024447807.1:c.911A>T, XM_024447804.1:c.911A>T, XM_047424588.1:c.911A>T, XM_047424590.1:c.911A>T, XM_047424587.1:c.911A>T, XM_024447798.1:c.911A>T, XM_047424592.1:c.911A>T, XM_047424595.1:c.911A>T, XM_047424597.1:c.185A>T, NP_058432.1:p.Glu304Val, NP_063968.1:p.Glu304Val, NP_001112.2:p.Glu304Val, NP_001307523.1:p.Glu226Val, NP_001307520.1:p.Glu304Val, NP_001307521.1:p.Glu304Val, NP_001307522.1:p.Glu304Val, XP_024303568.1:p.Glu304Val, XP_024303564.1:p.Glu304Val, XP_024303573.1:p.Glu304Val, XP_024303565.1:p.Glu304Val, XP_024303574.1:p.Glu304Val, XP_024303570.1:p.Glu304Val, XP_024303562.1:p.Glu304Val, XP_024303571.1:p.Glu304Val, XP_024303567.1:p.Glu304Val, XP_047280545.1:p.Glu304Val, XP_047280547.1:p.Glu304Val, XP_047280549.1:p.Glu304Val, XP_047280550.1:p.Glu304Val, XP_024303569.1:p.Glu304Val, XP_024303563.1:p.Glu304Val, XP_024303575.1:p.Glu304Val, XP_024303572.1:p.Glu304Val, XP_047280544.1:p.Glu304Val, XP_047280546.1:p.Glu304Val, XP_047280543.1:p.Glu304Val, XP_024303566.1:p.Glu304Val, XP_047280548.1:p.Glu304Val, XP_047280551.1:p.Glu304Val, XP_047280553.1:p.Glu62Val

                    10.

                    rs1478593923 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      10:110133451 (GRCh38)
                      10:111893209 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:110133450:A:T
                      Gene:
                      ADD3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000010.11:g.110133451A>T, NC_000010.10:g.111893209A>T, NG_051033.1:g.142102A>T, NM_016824.5:c.1954A>T, NM_016824.4:c.1954A>T, NM_016824.3:c.1954A>T, NM_019903.5:c.1858A>T, NM_019903.4:c.1858A>T, NM_019903.3:c.1858A>T, NM_001121.4:c.1858A>T, NM_001121.3:c.1858A>T, NM_001121.2:c.1858A>T, NM_001320594.2:c.1720A>T, NM_001320594.1:c.1720A>T, NM_001320591.2:c.1954A>T, NM_001320591.1:c.1954A>T, NM_001320592.2:c.1954A>T, NM_001320592.1:c.1954A>T, NM_001320593.2:c.1954A>T, NM_001320593.1:c.1954A>T, XM_024447800.2:c.1954A>T, XM_024447800.1:c.1954A>T, XM_024447796.2:c.1954A>T, XM_024447796.1:c.1954A>T, XM_024447805.2:c.1858A>T, XM_024447805.1:c.1858A>T, XM_024447797.2:c.1954A>T, XM_024447797.1:c.1954A>T, XM_024447806.2:c.1858A>T, XM_024447806.1:c.1858A>T, XM_024447802.2:c.1954A>T, XM_024447802.1:c.1954A>T, XM_024447794.2:c.1954A>T, XM_024447794.1:c.1954A>T, XM_024447803.2:c.1858A>T, XM_024447803.1:c.1858A>T, XM_024447799.2:c.1954A>T, XM_024447799.1:c.1954A>T, XM_047424589.1:c.1954A>T, XM_047424591.1:c.1954A>T, XM_047424593.1:c.1858A>T, XM_047424594.1:c.1858A>T, XM_024447801.1:c.1954A>T, XM_024447795.1:c.1954A>T, XM_024447807.1:c.1858A>T, XM_024447804.1:c.1858A>T, XM_047424588.1:c.1954A>T, XM_047424590.1:c.1954A>T, XM_047424587.1:c.1954A>T, XM_024447798.1:c.1954A>T, XM_047424592.1:c.1858A>T, XM_047424595.1:c.1858A>T, XM_047424597.1:c.1228A>T, NP_058432.1:p.Ser652Cys, NP_063968.1:p.Ser620Cys, NP_001112.2:p.Ser620Cys, NP_001307523.1:p.Ser574Cys, NP_001307520.1:p.Ser652Cys, NP_001307521.1:p.Ser652Cys, NP_001307522.1:p.Ser652Cys, XP_024303568.1:p.Ser652Cys, XP_024303564.1:p.Ser652Cys, XP_024303573.1:p.Ser620Cys, XP_024303565.1:p.Ser652Cys, XP_024303574.1:p.Ser620Cys, XP_024303570.1:p.Ser652Cys, XP_024303562.1:p.Ser652Cys, XP_024303571.1:p.Ser620Cys, XP_024303567.1:p.Ser652Cys, XP_047280545.1:p.Ser652Cys, XP_047280547.1:p.Ser652Cys, XP_047280549.1:p.Ser620Cys, XP_047280550.1:p.Ser620Cys, XP_024303569.1:p.Ser652Cys, XP_024303563.1:p.Ser652Cys, XP_024303575.1:p.Ser620Cys, XP_024303572.1:p.Ser620Cys, XP_047280544.1:p.Ser652Cys, XP_047280546.1:p.Ser652Cys, XP_047280543.1:p.Ser652Cys, XP_024303566.1:p.Ser652Cys, XP_047280548.1:p.Ser620Cys, XP_047280551.1:p.Ser620Cys, XP_047280553.1:p.Ser410Cys

                      11.

                      rs1477805329 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:110112777 (GRCh38)
                        10:111872535 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:110112776:G:A
                        Gene:
                        ADD3 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.110112777G>A, NC_000010.10:g.111872535G>A, NG_051033.1:g.121428G>A, NM_016824.5:c.196G>A, NM_016824.4:c.196G>A, NM_016824.3:c.196G>A, NM_019903.5:c.196G>A, NM_019903.4:c.196G>A, NM_019903.3:c.196G>A, NM_001121.4:c.196G>A, NM_001121.3:c.196G>A, NM_001121.2:c.196G>A, NM_001320594.2:c.-39G>A, NM_001320594.1:c.-39G>A, NM_001320591.2:c.196G>A, NM_001320591.1:c.196G>A, NM_001320592.2:c.196G>A, NM_001320592.1:c.196G>A, NM_001320593.2:c.196G>A, NM_001320593.1:c.196G>A, XM_024447800.2:c.196G>A, XM_024447800.1:c.196G>A, XM_024447796.2:c.196G>A, XM_024447796.1:c.196G>A, XM_024447805.2:c.196G>A, XM_024447805.1:c.196G>A, XM_024447797.2:c.196G>A, XM_024447797.1:c.196G>A, XM_024447806.2:c.196G>A, XM_024447806.1:c.196G>A, XM_024447802.2:c.196G>A, XM_024447802.1:c.196G>A, XM_024447794.2:c.196G>A, XM_024447794.1:c.196G>A, XM_024447803.2:c.196G>A, XM_024447803.1:c.196G>A, XM_024447799.2:c.196G>A, XM_024447799.1:c.196G>A, XM_047424589.1:c.196G>A, XM_047424591.1:c.196G>A, XM_047424593.1:c.196G>A, XM_047424594.1:c.196G>A, XM_024447801.1:c.196G>A, XM_024447795.1:c.196G>A, XM_024447807.1:c.196G>A, XM_024447804.1:c.196G>A, XM_047424588.1:c.196G>A, XM_047424590.1:c.196G>A, XM_047424587.1:c.196G>A, XM_024447798.1:c.196G>A, XM_047424592.1:c.196G>A, XM_047424595.1:c.196G>A, NP_058432.1:p.Ala66Thr, NP_063968.1:p.Ala66Thr, NP_001112.2:p.Ala66Thr, NP_001307520.1:p.Ala66Thr, NP_001307521.1:p.Ala66Thr, NP_001307522.1:p.Ala66Thr, XP_024303568.1:p.Ala66Thr, XP_024303564.1:p.Ala66Thr, XP_024303573.1:p.Ala66Thr, XP_024303565.1:p.Ala66Thr, XP_024303574.1:p.Ala66Thr, XP_024303570.1:p.Ala66Thr, XP_024303562.1:p.Ala66Thr, XP_024303571.1:p.Ala66Thr, XP_024303567.1:p.Ala66Thr, XP_047280545.1:p.Ala66Thr, XP_047280547.1:p.Ala66Thr, XP_047280549.1:p.Ala66Thr, XP_047280550.1:p.Ala66Thr, XP_024303569.1:p.Ala66Thr, XP_024303563.1:p.Ala66Thr, XP_024303575.1:p.Ala66Thr, XP_024303572.1:p.Ala66Thr, XP_047280544.1:p.Ala66Thr, XP_047280546.1:p.Ala66Thr, XP_047280543.1:p.Ala66Thr, XP_024303566.1:p.Ala66Thr, XP_047280548.1:p.Ala66Thr, XP_047280551.1:p.Ala66Thr

                        12.

                        rs1477690632 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          10:110118697 (GRCh38)
                          10:111878455 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:110118696:T:G
                          Gene:
                          ADD3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.110118697T>G, NC_000010.10:g.111878455T>G, NG_051033.1:g.127348T>G, NM_016824.5:c.678T>G, NM_016824.4:c.678T>G, NM_016824.3:c.678T>G, NM_019903.5:c.678T>G, NM_019903.4:c.678T>G, NM_019903.3:c.678T>G, NM_001121.4:c.678T>G, NM_001121.3:c.678T>G, NM_001121.2:c.678T>G, NM_001320594.2:c.444T>G, NM_001320594.1:c.444T>G, NM_001320591.2:c.678T>G, NM_001320591.1:c.678T>G, NM_001320592.2:c.678T>G, NM_001320592.1:c.678T>G, NM_001320593.2:c.678T>G, NM_001320593.1:c.678T>G, XM_024447800.2:c.678T>G, XM_024447800.1:c.678T>G, XM_024447796.2:c.678T>G, XM_024447796.1:c.678T>G, XM_024447805.2:c.678T>G, XM_024447805.1:c.678T>G, XM_024447797.2:c.678T>G, XM_024447797.1:c.678T>G, XM_024447806.2:c.678T>G, XM_024447806.1:c.678T>G, XM_024447802.2:c.678T>G, XM_024447802.1:c.678T>G, XM_024447794.2:c.678T>G, XM_024447794.1:c.678T>G, XM_024447803.2:c.678T>G, XM_024447803.1:c.678T>G, XM_024447799.2:c.678T>G, XM_024447799.1:c.678T>G, XM_047424589.1:c.678T>G, XM_047424591.1:c.678T>G, XM_047424593.1:c.678T>G, XM_047424594.1:c.678T>G, XM_024447801.1:c.678T>G, XM_024447795.1:c.678T>G, XM_024447807.1:c.678T>G, XM_024447804.1:c.678T>G, XM_047424588.1:c.678T>G, XM_047424590.1:c.678T>G, XM_047424587.1:c.678T>G, XM_024447798.1:c.678T>G, XM_047424592.1:c.678T>G, XM_047424595.1:c.678T>G, XM_047424597.1:c.-49T>G

                          13.

                          rs1477166202 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            10:110133363 (GRCh38)
                            10:111893121 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:110133362:G:T
                            Gene:
                            ADD3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000010.11:g.110133363G>T, NC_000010.10:g.111893121G>T, NG_051033.1:g.142014G>T, NM_016824.5:c.1866G>T, NM_016824.4:c.1866G>T, NM_016824.3:c.1866G>T, NM_019903.5:c.1770G>T, NM_019903.4:c.1770G>T, NM_019903.3:c.1770G>T, NM_001121.4:c.1770G>T, NM_001121.3:c.1770G>T, NM_001121.2:c.1770G>T, NM_001320594.2:c.1632G>T, NM_001320594.1:c.1632G>T, NM_001320591.2:c.1866G>T, NM_001320591.1:c.1866G>T, NM_001320592.2:c.1866G>T, NM_001320592.1:c.1866G>T, NM_001320593.2:c.1866G>T, NM_001320593.1:c.1866G>T, XM_024447800.2:c.1866G>T, XM_024447800.1:c.1866G>T, XM_024447796.2:c.1866G>T, XM_024447796.1:c.1866G>T, XM_024447805.2:c.1770G>T, XM_024447805.1:c.1770G>T, XM_024447797.2:c.1866G>T, XM_024447797.1:c.1866G>T, XM_024447806.2:c.1770G>T, XM_024447806.1:c.1770G>T, XM_024447802.2:c.1866G>T, XM_024447802.1:c.1866G>T, XM_024447794.2:c.1866G>T, XM_024447794.1:c.1866G>T, XM_024447803.2:c.1770G>T, XM_024447803.1:c.1770G>T, XM_024447799.2:c.1866G>T, XM_024447799.1:c.1866G>T, XM_047424589.1:c.1866G>T, XM_047424591.1:c.1866G>T, XM_047424593.1:c.1770G>T, XM_047424594.1:c.1770G>T, XM_024447801.1:c.1866G>T, XM_024447795.1:c.1866G>T, XM_024447807.1:c.1770G>T, XM_024447804.1:c.1770G>T, XM_047424588.1:c.1866G>T, XM_047424590.1:c.1866G>T, XM_047424587.1:c.1866G>T, XM_024447798.1:c.1866G>T, XM_047424592.1:c.1770G>T, XM_047424595.1:c.1770G>T, XM_047424597.1:c.1140G>T, NP_058432.1:p.Met622Ile, NP_063968.1:p.Met590Ile, NP_001112.2:p.Met590Ile, NP_001307523.1:p.Met544Ile, NP_001307520.1:p.Met622Ile, NP_001307521.1:p.Met622Ile, NP_001307522.1:p.Met622Ile, XP_024303568.1:p.Met622Ile, XP_024303564.1:p.Met622Ile, XP_024303573.1:p.Met590Ile, XP_024303565.1:p.Met622Ile, XP_024303574.1:p.Met590Ile, XP_024303570.1:p.Met622Ile, XP_024303562.1:p.Met622Ile, XP_024303571.1:p.Met590Ile, XP_024303567.1:p.Met622Ile, XP_047280545.1:p.Met622Ile, XP_047280547.1:p.Met622Ile, XP_047280549.1:p.Met590Ile, XP_047280550.1:p.Met590Ile, XP_024303569.1:p.Met622Ile, XP_024303563.1:p.Met622Ile, XP_024303575.1:p.Met590Ile, XP_024303572.1:p.Met590Ile, XP_047280544.1:p.Met622Ile, XP_047280546.1:p.Met622Ile, XP_047280543.1:p.Met622Ile, XP_024303566.1:p.Met622Ile, XP_047280548.1:p.Met590Ile, XP_047280551.1:p.Met590Ile, XP_047280553.1:p.Met380Ile

                            14.

                            rs1471373753 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              10:110133508 (GRCh38)
                              10:111893266 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:110133507:G:T
                              Gene:
                              ADD3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000010.11:g.110133508G>T, NC_000010.10:g.111893266G>T, NG_051033.1:g.142159G>T, NM_016824.5:c.2011G>T, NM_016824.4:c.2011G>T, NM_016824.3:c.2011G>T, NM_019903.5:c.1915G>T, NM_019903.4:c.1915G>T, NM_019903.3:c.1915G>T, NM_001121.4:c.1915G>T, NM_001121.3:c.1915G>T, NM_001121.2:c.1915G>T, NM_001320594.2:c.1777G>T, NM_001320594.1:c.1777G>T, NM_001320591.2:c.2011G>T, NM_001320591.1:c.2011G>T, NM_001320592.2:c.2011G>T, NM_001320592.1:c.2011G>T, NM_001320593.2:c.2011G>T, NM_001320593.1:c.2011G>T, XM_024447800.2:c.2011G>T, XM_024447800.1:c.2011G>T, XM_024447796.2:c.2011G>T, XM_024447796.1:c.2011G>T, XM_024447805.2:c.1915G>T, XM_024447805.1:c.1915G>T, XM_024447797.2:c.2011G>T, XM_024447797.1:c.2011G>T, XM_024447806.2:c.1915G>T, XM_024447806.1:c.1915G>T, XM_024447802.2:c.2011G>T, XM_024447802.1:c.2011G>T, XM_024447794.2:c.2011G>T, XM_024447794.1:c.2011G>T, XM_024447803.2:c.1915G>T, XM_024447803.1:c.1915G>T, XM_024447799.2:c.2011G>T, XM_024447799.1:c.2011G>T, XM_047424589.1:c.2011G>T, XM_047424591.1:c.2011G>T, XM_047424593.1:c.1915G>T, XM_047424594.1:c.1915G>T, XM_024447801.1:c.2011G>T, XM_024447795.1:c.2011G>T, XM_024447807.1:c.1915G>T, XM_024447804.1:c.1915G>T, XM_047424588.1:c.2011G>T, XM_047424590.1:c.2011G>T, XM_047424587.1:c.2011G>T, XM_024447798.1:c.2011G>T, XM_047424592.1:c.1915G>T, XM_047424595.1:c.1915G>T, XM_047424597.1:c.1285G>T, NP_058432.1:p.Val671Phe, NP_063968.1:p.Val639Phe, NP_001112.2:p.Val639Phe, NP_001307523.1:p.Val593Phe, NP_001307520.1:p.Val671Phe, NP_001307521.1:p.Val671Phe, NP_001307522.1:p.Val671Phe, XP_024303568.1:p.Val671Phe, XP_024303564.1:p.Val671Phe, XP_024303573.1:p.Val639Phe, XP_024303565.1:p.Val671Phe, XP_024303574.1:p.Val639Phe, XP_024303570.1:p.Val671Phe, XP_024303562.1:p.Val671Phe, XP_024303571.1:p.Val639Phe, XP_024303567.1:p.Val671Phe, XP_047280545.1:p.Val671Phe, XP_047280547.1:p.Val671Phe, XP_047280549.1:p.Val639Phe, XP_047280550.1:p.Val639Phe, XP_024303569.1:p.Val671Phe, XP_024303563.1:p.Val671Phe, XP_024303575.1:p.Val639Phe, XP_024303572.1:p.Val639Phe, XP_047280544.1:p.Val671Phe, XP_047280546.1:p.Val671Phe, XP_047280543.1:p.Val671Phe, XP_024303566.1:p.Val671Phe, XP_047280548.1:p.Val639Phe, XP_047280551.1:p.Val639Phe, XP_047280553.1:p.Val429Phe

                              15.

                              rs1469987182 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:110124072 (GRCh38)
                                10:111883830 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:110124071:A:G
                                Gene:
                                ADD3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.110124072A>G, NC_000010.10:g.111883830A>G, NG_051033.1:g.132723A>G, NM_016824.5:c.1199A>G, NM_016824.4:c.1199A>G, NM_016824.3:c.1199A>G, NM_019903.5:c.1199A>G, NM_019903.4:c.1199A>G, NM_019903.3:c.1199A>G, NM_001121.4:c.1199A>G, NM_001121.3:c.1199A>G, NM_001121.2:c.1199A>G, NM_001320594.2:c.965A>G, NM_001320594.1:c.965A>G, NM_001320591.2:c.1199A>G, NM_001320591.1:c.1199A>G, NM_001320592.2:c.1199A>G, NM_001320592.1:c.1199A>G, NM_001320593.2:c.1199A>G, NM_001320593.1:c.1199A>G, XM_024447800.2:c.1199A>G, XM_024447800.1:c.1199A>G, XM_024447796.2:c.1199A>G, XM_024447796.1:c.1199A>G, XM_024447805.2:c.1199A>G, XM_024447805.1:c.1199A>G, XM_024447797.2:c.1199A>G, XM_024447797.1:c.1199A>G, XM_024447806.2:c.1199A>G, XM_024447806.1:c.1199A>G, XM_024447802.2:c.1199A>G, XM_024447802.1:c.1199A>G, XM_024447794.2:c.1199A>G, XM_024447794.1:c.1199A>G, XM_024447803.2:c.1199A>G, XM_024447803.1:c.1199A>G, XM_024447799.2:c.1199A>G, XM_024447799.1:c.1199A>G, XM_047424589.1:c.1199A>G, XM_047424591.1:c.1199A>G, XM_047424593.1:c.1199A>G, XM_047424594.1:c.1199A>G, XM_024447801.1:c.1199A>G, XM_024447795.1:c.1199A>G, XM_024447807.1:c.1199A>G, XM_024447804.1:c.1199A>G, XM_047424588.1:c.1199A>G, XM_047424590.1:c.1199A>G, XM_047424587.1:c.1199A>G, XM_024447798.1:c.1199A>G, XM_047424592.1:c.1199A>G, XM_047424595.1:c.1199A>G, XM_047424597.1:c.473A>G, NP_058432.1:p.His400Arg, NP_063968.1:p.His400Arg, NP_001112.2:p.His400Arg, NP_001307523.1:p.His322Arg, NP_001307520.1:p.His400Arg, NP_001307521.1:p.His400Arg, NP_001307522.1:p.His400Arg, XP_024303568.1:p.His400Arg, XP_024303564.1:p.His400Arg, XP_024303573.1:p.His400Arg, XP_024303565.1:p.His400Arg, XP_024303574.1:p.His400Arg, XP_024303570.1:p.His400Arg, XP_024303562.1:p.His400Arg, XP_024303571.1:p.His400Arg, XP_024303567.1:p.His400Arg, XP_047280545.1:p.His400Arg, XP_047280547.1:p.His400Arg, XP_047280549.1:p.His400Arg, XP_047280550.1:p.His400Arg, XP_024303569.1:p.His400Arg, XP_024303563.1:p.His400Arg, XP_024303575.1:p.His400Arg, XP_024303572.1:p.His400Arg, XP_047280544.1:p.His400Arg, XP_047280546.1:p.His400Arg, XP_047280543.1:p.His400Arg, XP_024303566.1:p.His400Arg, XP_047280548.1:p.His400Arg, XP_047280551.1:p.His400Arg, XP_047280553.1:p.His158Arg

                                16.

                                rs1469664101 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:110119219 (GRCh38)
                                  10:111878977 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:110119218:C:T
                                  Gene:
                                  ADD3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,5_prime_UTR_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_000010.11:g.110119219C>T, NC_000010.10:g.111878977C>T, NG_051033.1:g.127870C>T, NM_016824.5:c.726C>T, NM_016824.4:c.726C>T, NM_016824.3:c.726C>T, NM_019903.5:c.726C>T, NM_019903.4:c.726C>T, NM_019903.3:c.726C>T, NM_001121.4:c.726C>T, NM_001121.3:c.726C>T, NM_001121.2:c.726C>T, NM_001320594.2:c.492C>T, NM_001320594.1:c.492C>T, NM_001320591.2:c.726C>T, NM_001320591.1:c.726C>T, NM_001320592.2:c.726C>T, NM_001320592.1:c.726C>T, NM_001320593.2:c.726C>T, NM_001320593.1:c.726C>T, XM_024447800.2:c.726C>T, XM_024447800.1:c.726C>T, XM_024447796.2:c.726C>T, XM_024447796.1:c.726C>T, XM_024447805.2:c.726C>T, XM_024447805.1:c.726C>T, XM_024447797.2:c.726C>T, XM_024447797.1:c.726C>T, XM_024447806.2:c.726C>T, XM_024447806.1:c.726C>T, XM_024447802.2:c.726C>T, XM_024447802.1:c.726C>T, XM_024447794.2:c.726C>T, XM_024447794.1:c.726C>T, XM_024447803.2:c.726C>T, XM_024447803.1:c.726C>T, XM_024447799.2:c.726C>T, XM_024447799.1:c.726C>T, XM_047424589.1:c.726C>T, XM_047424591.1:c.726C>T, XM_047424593.1:c.726C>T, XM_047424594.1:c.726C>T, XM_024447801.1:c.726C>T, XM_024447795.1:c.726C>T, XM_024447807.1:c.726C>T, XM_024447804.1:c.726C>T, XM_047424588.1:c.726C>T, XM_047424590.1:c.726C>T, XM_047424587.1:c.726C>T, XM_024447798.1:c.726C>T, XM_047424592.1:c.726C>T, XM_047424595.1:c.726C>T, XM_047424597.1:c.-1C>T

                                  17.

                                  rs1469203632 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:110118653 (GRCh38)
                                    10:111878411 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:110118652:G:A
                                    Gene:
                                    ADD3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.110118653G>A, NC_000010.10:g.111878411G>A, NG_051033.1:g.127304G>A, NM_016824.5:c.634G>A, NM_016824.4:c.634G>A, NM_016824.3:c.634G>A, NM_019903.5:c.634G>A, NM_019903.4:c.634G>A, NM_019903.3:c.634G>A, NM_001121.4:c.634G>A, NM_001121.3:c.634G>A, NM_001121.2:c.634G>A, NM_001320594.2:c.400G>A, NM_001320594.1:c.400G>A, NM_001320591.2:c.634G>A, NM_001320591.1:c.634G>A, NM_001320592.2:c.634G>A, NM_001320592.1:c.634G>A, NM_001320593.2:c.634G>A, NM_001320593.1:c.634G>A, XM_024447800.2:c.634G>A, XM_024447800.1:c.634G>A, XM_024447796.2:c.634G>A, XM_024447796.1:c.634G>A, XM_024447805.2:c.634G>A, XM_024447805.1:c.634G>A, XM_024447797.2:c.634G>A, XM_024447797.1:c.634G>A, XM_024447806.2:c.634G>A, XM_024447806.1:c.634G>A, XM_024447802.2:c.634G>A, XM_024447802.1:c.634G>A, XM_024447794.2:c.634G>A, XM_024447794.1:c.634G>A, XM_024447803.2:c.634G>A, XM_024447803.1:c.634G>A, XM_024447799.2:c.634G>A, XM_024447799.1:c.634G>A, XM_047424589.1:c.634G>A, XM_047424591.1:c.634G>A, XM_047424593.1:c.634G>A, XM_047424594.1:c.634G>A, XM_024447801.1:c.634G>A, XM_024447795.1:c.634G>A, XM_024447807.1:c.634G>A, XM_024447804.1:c.634G>A, XM_047424588.1:c.634G>A, XM_047424590.1:c.634G>A, XM_047424587.1:c.634G>A, XM_024447798.1:c.634G>A, XM_047424592.1:c.634G>A, XM_047424595.1:c.634G>A, XM_047424597.1:c.-93G>A, NP_058432.1:p.Gly212Arg, NP_063968.1:p.Gly212Arg, NP_001112.2:p.Gly212Arg, NP_001307523.1:p.Gly134Arg, NP_001307520.1:p.Gly212Arg, NP_001307521.1:p.Gly212Arg, NP_001307522.1:p.Gly212Arg, XP_024303568.1:p.Gly212Arg, XP_024303564.1:p.Gly212Arg, XP_024303573.1:p.Gly212Arg, XP_024303565.1:p.Gly212Arg, XP_024303574.1:p.Gly212Arg, XP_024303570.1:p.Gly212Arg, XP_024303562.1:p.Gly212Arg, XP_024303571.1:p.Gly212Arg, XP_024303567.1:p.Gly212Arg, XP_047280545.1:p.Gly212Arg, XP_047280547.1:p.Gly212Arg, XP_047280549.1:p.Gly212Arg, XP_047280550.1:p.Gly212Arg, XP_024303569.1:p.Gly212Arg, XP_024303563.1:p.Gly212Arg, XP_024303575.1:p.Gly212Arg, XP_024303572.1:p.Gly212Arg, XP_047280544.1:p.Gly212Arg, XP_047280546.1:p.Gly212Arg, XP_047280543.1:p.Gly212Arg, XP_024303566.1:p.Gly212Arg, XP_047280548.1:p.Gly212Arg, XP_047280551.1:p.Gly212Arg

                                    18.

                                    rs1468996548 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:110100798 (GRCh38)
                                      10:111860556 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:110100797:T:C
                                      Gene:
                                      ADD3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.110100798T>C, NC_000010.10:g.111860556T>C, NG_051033.1:g.109449T>C, NM_016824.5:c.145T>C, NM_016824.4:c.145T>C, NM_016824.3:c.145T>C, NM_019903.5:c.145T>C, NM_019903.4:c.145T>C, NM_019903.3:c.145T>C, NM_001121.4:c.145T>C, NM_001121.3:c.145T>C, NM_001121.2:c.145T>C, NM_001320594.2:c.-144T>C, NM_001320594.1:c.-144T>C, NM_001320591.2:c.145T>C, NM_001320591.1:c.145T>C, NM_001320592.2:c.145T>C, NM_001320592.1:c.145T>C, NM_001320593.2:c.145T>C, NM_001320593.1:c.145T>C, XM_024447800.2:c.145T>C, XM_024447800.1:c.145T>C, XM_024447796.2:c.145T>C, XM_024447796.1:c.145T>C, XM_024447805.2:c.145T>C, XM_024447805.1:c.145T>C, XM_024447797.2:c.145T>C, XM_024447797.1:c.145T>C, XM_024447806.2:c.145T>C, XM_024447806.1:c.145T>C, XM_024447802.2:c.145T>C, XM_024447802.1:c.145T>C, XM_024447794.2:c.145T>C, XM_024447794.1:c.145T>C, XM_024447803.2:c.145T>C, XM_024447803.1:c.145T>C, XM_024447799.2:c.145T>C, XM_024447799.1:c.145T>C, XM_047424589.1:c.145T>C, XM_047424591.1:c.145T>C, XM_047424593.1:c.145T>C, XM_047424594.1:c.145T>C, XM_024447801.1:c.145T>C, XM_024447795.1:c.145T>C, XM_024447807.1:c.145T>C, XM_024447804.1:c.145T>C, XM_047424588.1:c.145T>C, XM_047424590.1:c.145T>C, XM_047424587.1:c.145T>C, XM_024447798.1:c.145T>C, XM_047424592.1:c.145T>C, XM_047424595.1:c.145T>C, NP_058432.1:p.Phe49Leu, NP_063968.1:p.Phe49Leu, NP_001112.2:p.Phe49Leu, NP_001307520.1:p.Phe49Leu, NP_001307521.1:p.Phe49Leu, NP_001307522.1:p.Phe49Leu, XP_024303568.1:p.Phe49Leu, XP_024303564.1:p.Phe49Leu, XP_024303573.1:p.Phe49Leu, XP_024303565.1:p.Phe49Leu, XP_024303574.1:p.Phe49Leu, XP_024303570.1:p.Phe49Leu, XP_024303562.1:p.Phe49Leu, XP_024303571.1:p.Phe49Leu, XP_024303567.1:p.Phe49Leu, XP_047280545.1:p.Phe49Leu, XP_047280547.1:p.Phe49Leu, XP_047280549.1:p.Phe49Leu, XP_047280550.1:p.Phe49Leu, XP_024303569.1:p.Phe49Leu, XP_024303563.1:p.Phe49Leu, XP_024303575.1:p.Phe49Leu, XP_024303572.1:p.Phe49Leu, XP_047280544.1:p.Phe49Leu, XP_047280546.1:p.Phe49Leu, XP_047280543.1:p.Phe49Leu, XP_024303566.1:p.Phe49Leu, XP_047280548.1:p.Phe49Leu, XP_047280551.1:p.Phe49Leu

                                      19.

                                      rs1467750723 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:110116356 (GRCh38)
                                        10:111876114 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:110116355:G:A
                                        Gene:
                                        ADD3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.110116356G>A, NC_000010.10:g.111876114G>A, NG_051033.1:g.125007G>A, NM_016824.5:c.432G>A, NM_016824.4:c.432G>A, NM_016824.3:c.432G>A, NM_019903.5:c.432G>A, NM_019903.4:c.432G>A, NM_019903.3:c.432G>A, NM_001121.4:c.432G>A, NM_001121.3:c.432G>A, NM_001121.2:c.432G>A, NM_001320594.2:c.198G>A, NM_001320594.1:c.198G>A, NM_001320591.2:c.432G>A, NM_001320591.1:c.432G>A, NM_001320592.2:c.432G>A, NM_001320592.1:c.432G>A, NM_001320593.2:c.432G>A, NM_001320593.1:c.432G>A, XM_024447800.2:c.432G>A, XM_024447800.1:c.432G>A, XM_024447796.2:c.432G>A, XM_024447796.1:c.432G>A, XM_024447805.2:c.432G>A, XM_024447805.1:c.432G>A, XM_024447797.2:c.432G>A, XM_024447797.1:c.432G>A, XM_024447806.2:c.432G>A, XM_024447806.1:c.432G>A, XM_024447802.2:c.432G>A, XM_024447802.1:c.432G>A, XM_024447794.2:c.432G>A, XM_024447794.1:c.432G>A, XM_024447803.2:c.432G>A, XM_024447803.1:c.432G>A, XM_024447799.2:c.432G>A, XM_024447799.1:c.432G>A, XM_047424589.1:c.432G>A, XM_047424591.1:c.432G>A, XM_047424593.1:c.432G>A, XM_047424594.1:c.432G>A, XM_024447801.1:c.432G>A, XM_024447795.1:c.432G>A, XM_024447807.1:c.432G>A, XM_024447804.1:c.432G>A, XM_047424588.1:c.432G>A, XM_047424590.1:c.432G>A, XM_047424587.1:c.432G>A, XM_024447798.1:c.432G>A, XM_047424592.1:c.432G>A, XM_047424595.1:c.432G>A

                                        20.

                                        rs1466479606 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          10:110112789 (GRCh38)
                                          10:111872547 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:110112788:G:A
                                          Gene:
                                          ADD3 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.110112789G>A, NC_000010.10:g.111872547G>A, NG_051033.1:g.121440G>A, NM_016824.5:c.208G>A, NM_016824.4:c.208G>A, NM_016824.3:c.208G>A, NM_019903.5:c.208G>A, NM_019903.4:c.208G>A, NM_019903.3:c.208G>A, NM_001121.4:c.208G>A, NM_001121.3:c.208G>A, NM_001121.2:c.208G>A, NM_001320594.2:c.-27G>A, NM_001320594.1:c.-27G>A, NM_001320591.2:c.208G>A, NM_001320591.1:c.208G>A, NM_001320592.2:c.208G>A, NM_001320592.1:c.208G>A, NM_001320593.2:c.208G>A, NM_001320593.1:c.208G>A, XM_024447800.2:c.208G>A, XM_024447800.1:c.208G>A, XM_024447796.2:c.208G>A, XM_024447796.1:c.208G>A, XM_024447805.2:c.208G>A, XM_024447805.1:c.208G>A, XM_024447797.2:c.208G>A, XM_024447797.1:c.208G>A, XM_024447806.2:c.208G>A, XM_024447806.1:c.208G>A, XM_024447802.2:c.208G>A, XM_024447802.1:c.208G>A, XM_024447794.2:c.208G>A, XM_024447794.1:c.208G>A, XM_024447803.2:c.208G>A, XM_024447803.1:c.208G>A, XM_024447799.2:c.208G>A, XM_024447799.1:c.208G>A, XM_047424589.1:c.208G>A, XM_047424591.1:c.208G>A, XM_047424593.1:c.208G>A, XM_047424594.1:c.208G>A, XM_024447801.1:c.208G>A, XM_024447795.1:c.208G>A, XM_024447807.1:c.208G>A, XM_024447804.1:c.208G>A, XM_047424588.1:c.208G>A, XM_047424590.1:c.208G>A, XM_047424587.1:c.208G>A, XM_024447798.1:c.208G>A, XM_047424592.1:c.208G>A, XM_047424595.1:c.208G>A, NP_058432.1:p.Asp70Asn, NP_063968.1:p.Asp70Asn, NP_001112.2:p.Asp70Asn, NP_001307520.1:p.Asp70Asn, NP_001307521.1:p.Asp70Asn, NP_001307522.1:p.Asp70Asn, XP_024303568.1:p.Asp70Asn, XP_024303564.1:p.Asp70Asn, XP_024303573.1:p.Asp70Asn, XP_024303565.1:p.Asp70Asn, XP_024303574.1:p.Asp70Asn, XP_024303570.1:p.Asp70Asn, XP_024303562.1:p.Asp70Asn, XP_024303571.1:p.Asp70Asn, XP_024303567.1:p.Asp70Asn, XP_047280545.1:p.Asp70Asn, XP_047280547.1:p.Asp70Asn, XP_047280549.1:p.Asp70Asn, XP_047280550.1:p.Asp70Asn, XP_024303569.1:p.Asp70Asn, XP_024303563.1:p.Asp70Asn, XP_024303575.1:p.Asp70Asn, XP_024303572.1:p.Asp70Asn, XP_047280544.1:p.Asp70Asn, XP_047280546.1:p.Asp70Asn, XP_047280543.1:p.Asp70Asn, XP_024303566.1:p.Asp70Asn, XP_047280548.1:p.Asp70Asn, XP_047280551.1:p.Asp70Asn

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