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Items: 1 to 20 of 639

1.

rs1488112736 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:23008855 (GRCh38)
    10:23297784 (GRCh37)
    Canonical SPDI:
    NC_000010.11:23008854:A:G
    Gene:
    ARMC3 (Varview), LOC107984215 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.23008855A>G, NC_000010.10:g.23297784A>G, NM_173081.5:c.1969A>G, NM_173081.4:c.1969A>G, NM_173081.3:c.1969A>G, XM_005252380.4:c.1774A>G, XM_005252380.3:c.1774A>G, XM_005252380.2:c.1774A>G, XM_005252380.1:c.1774A>G, XM_011519350.4:c.1969A>G, XM_011519350.3:c.1969A>G, XM_011519350.2:c.1969A>G, XM_011519350.1:c.1969A>G, XM_005252381.3:c.1705A>G, XM_005252381.2:c.1705A>G, XM_005252381.1:c.1705A>G, XM_017015831.3:c.1753A>G, XM_017015831.2:c.1753A>G, XM_017015831.1:c.1753A>G, XM_011519351.3:c.697A>G, XM_011519351.2:c.697A>G, XM_011519351.1:c.697A>G, XM_017015832.3:c.1948A>G, XM_017015832.2:c.1948A>G, XM_017015832.1:c.1948A>G, XM_017015833.3:c.1774A>G, XM_017015833.2:c.1774A>G, XM_017015833.1:c.1774A>G, NM_001282745.2:c.1948A>G, NM_001282745.1:c.1948A>G, NM_001282747.2:c.1180A>G, NM_001282747.1:c.1180A>G, NM_001282746.2:c.1969A>G, NM_001282746.1:c.1969A>G, NP_775104.2:p.Ile657Val, XP_005252437.1:p.Ile592Val, XP_011517652.1:p.Ile657Val, XP_005252438.1:p.Ile569Val, XP_016871320.1:p.Ile585Val, XP_011517653.1:p.Ile233Val, XP_016871321.1:p.Ile650Val, XP_016871322.1:p.Ile592Val, NP_001269674.1:p.Ile650Val, NP_001269676.1:p.Ile394Val, NP_001269675.1:p.Ile657Val

    2.

    rs1487981073 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      10:23006899 (GRCh38)
      10:23295828 (GRCh37)
      Canonical SPDI:
      NC_000010.11:23006898:A:G
      Gene:
      ARMC3 (Varview), LOC107984215 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000010.11:g.23006899A>G, NC_000010.10:g.23295828A>G, NM_173081.5:c.1747A>G, NM_173081.4:c.1747A>G, NM_173081.3:c.1747A>G, XM_005252380.4:c.1552A>G, XM_005252380.3:c.1552A>G, XM_005252380.2:c.1552A>G, XM_005252380.1:c.1552A>G, XM_011519350.4:c.1747A>G, XM_011519350.3:c.1747A>G, XM_011519350.2:c.1747A>G, XM_011519350.1:c.1747A>G, XM_005252381.3:c.1483A>G, XM_005252381.2:c.1483A>G, XM_005252381.1:c.1483A>G, XM_017015831.3:c.1552A>G, XM_017015831.2:c.1552A>G, XM_017015831.1:c.1552A>G, XM_011519351.3:c.475A>G, XM_011519351.2:c.475A>G, XM_011519351.1:c.475A>G, XM_017015832.3:c.1747A>G, XM_017015832.2:c.1747A>G, XM_017015832.1:c.1747A>G, XM_017015833.3:c.1552A>G, XM_017015833.2:c.1552A>G, XM_017015833.1:c.1552A>G, NM_001282745.2:c.1747A>G, NM_001282745.1:c.1747A>G, NM_001282747.2:c.958A>G, NM_001282747.1:c.958A>G, NM_001282746.2:c.1747A>G, NM_001282746.1:c.1747A>G, NP_775104.2:p.Lys583Glu, XP_005252437.1:p.Lys518Glu, XP_011517652.1:p.Lys583Glu, XP_005252438.1:p.Lys495Glu, XP_016871320.1:p.Lys518Glu, XP_011517653.1:p.Lys159Glu, XP_016871321.1:p.Lys583Glu, XP_016871322.1:p.Lys518Glu, NP_001269674.1:p.Lys583Glu, NP_001269676.1:p.Lys320Glu, NP_001269675.1:p.Lys583Glu

      3.

      rs1487694555 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        10:22955827 (GRCh38)
        10:23244756 (GRCh37)
        Canonical SPDI:
        NC_000010.11:22955826:C:G
        Gene:
        ARMC3 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000010.11:g.22955827C>G, NC_000010.10:g.23244756C>G, NM_173081.5:c.187C>G, NM_173081.4:c.187C>G, NM_173081.3:c.187C>G, XM_005252380.4:c.187C>G, XM_005252380.3:c.187C>G, XM_005252380.2:c.187C>G, XM_005252380.1:c.187C>G, XM_011519350.4:c.187C>G, XM_011519350.3:c.187C>G, XM_011519350.2:c.187C>G, XM_011519350.1:c.187C>G, XM_005252381.3:c.-78C>G, XM_005252381.2:c.-78C>G, XM_005252381.1:c.-78C>G, XM_017015831.3:c.187C>G, XM_017015831.2:c.187C>G, XM_017015831.1:c.187C>G, XM_017015832.3:c.187C>G, XM_017015832.2:c.187C>G, XM_017015832.1:c.187C>G, XM_017015833.3:c.187C>G, XM_017015833.2:c.187C>G, XM_017015833.1:c.187C>G, NM_001282745.2:c.187C>G, NM_001282745.1:c.187C>G, NM_001282747.2:c.-232C>G, NM_001282747.1:c.-232C>G, NM_001282746.2:c.187C>G, NM_001282746.1:c.187C>G, NP_775104.2:p.Leu63Val, XP_005252437.1:p.Leu63Val, XP_011517652.1:p.Leu63Val, XP_016871320.1:p.Leu63Val, XP_016871321.1:p.Leu63Val, XP_016871322.1:p.Leu63Val, NP_001269674.1:p.Leu63Val, NP_001269675.1:p.Leu63Val

        4.

        rs1485525400 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          10:23001923 (GRCh38)
          10:23290852 (GRCh37)
          Canonical SPDI:
          NC_000010.11:23001922:G:C
          Gene:
          ARMC3 (Varview), LOC107984215 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000111/1 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.23001923G>C, NC_000010.10:g.23290852G>C, NM_173081.5:c.1430G>C, NM_173081.4:c.1430G>C, NM_173081.3:c.1430G>C, XM_005252380.4:c.1235G>C, XM_005252380.3:c.1235G>C, XM_005252380.2:c.1235G>C, XM_005252380.1:c.1235G>C, XM_011519350.4:c.1430G>C, XM_011519350.3:c.1430G>C, XM_011519350.2:c.1430G>C, XM_011519350.1:c.1430G>C, XM_005252381.3:c.1166G>C, XM_005252381.2:c.1166G>C, XM_005252381.1:c.1166G>C, XM_017015831.3:c.1235G>C, XM_017015831.2:c.1235G>C, XM_017015831.1:c.1235G>C, XM_011519351.3:c.158G>C, XM_011519351.2:c.158G>C, XM_011519351.1:c.158G>C, XM_017015832.3:c.1430G>C, XM_017015832.2:c.1430G>C, XM_017015832.1:c.1430G>C, XM_017015833.3:c.1235G>C, XM_017015833.2:c.1235G>C, XM_017015833.1:c.1235G>C, NM_001282745.2:c.1430G>C, NM_001282745.1:c.1430G>C, NM_001282747.2:c.641G>C, NM_001282747.1:c.641G>C, NM_001282746.2:c.1430G>C, NM_001282746.1:c.1430G>C, NP_775104.2:p.Arg477Thr, XP_005252437.1:p.Arg412Thr, XP_011517652.1:p.Arg477Thr, XP_005252438.1:p.Arg389Thr, XP_016871320.1:p.Arg412Thr, XP_011517653.1:p.Arg53Thr, XP_016871321.1:p.Arg477Thr, XP_016871322.1:p.Arg412Thr, NP_001269674.1:p.Arg477Thr, NP_001269676.1:p.Arg214Thr, NP_001269675.1:p.Arg477Thr

          5.

          rs1481907303 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            10:22946163 (GRCh38)
            10:23235092 (GRCh37)
            Canonical SPDI:
            NC_000010.11:22946162:A:C,NC_000010.11:22946162:A:T
            Gene:
            ARMC3 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000010.11:g.22946163A>C, NC_000010.11:g.22946163A>T, NC_000010.10:g.23235092A>C, NC_000010.10:g.23235092A>T, NM_173081.5:c.68A>C, NM_173081.5:c.68A>T, NM_173081.4:c.68A>C, NM_173081.4:c.68A>T, NM_173081.3:c.68A>C, NM_173081.3:c.68A>T, XM_005252380.4:c.68A>C, XM_005252380.4:c.68A>T, XM_005252380.3:c.68A>C, XM_005252380.3:c.68A>T, XM_005252380.2:c.68A>C, XM_005252380.2:c.68A>T, XM_005252380.1:c.68A>C, XM_005252380.1:c.68A>T, XM_011519350.4:c.68A>C, XM_011519350.4:c.68A>T, XM_011519350.3:c.68A>C, XM_011519350.3:c.68A>T, XM_011519350.2:c.68A>C, XM_011519350.2:c.68A>T, XM_011519350.1:c.68A>C, XM_011519350.1:c.68A>T, XM_017015831.3:c.68A>C, XM_017015831.3:c.68A>T, XM_017015831.2:c.68A>C, XM_017015831.2:c.68A>T, XM_017015831.1:c.68A>C, XM_017015831.1:c.68A>T, XM_017015832.3:c.68A>C, XM_017015832.3:c.68A>T, XM_017015832.2:c.68A>C, XM_017015832.2:c.68A>T, XM_017015832.1:c.68A>C, XM_017015832.1:c.68A>T, XM_017015833.3:c.68A>C, XM_017015833.3:c.68A>T, XM_017015833.2:c.68A>C, XM_017015833.2:c.68A>T, XM_017015833.1:c.68A>C, XM_017015833.1:c.68A>T, NM_001282745.2:c.68A>C, NM_001282745.2:c.68A>T, NM_001282745.1:c.68A>C, NM_001282745.1:c.68A>T, NM_001282746.2:c.68A>C, NM_001282746.2:c.68A>T, NM_001282746.1:c.68A>C, NM_001282746.1:c.68A>T, NP_775104.2:p.Glu23Ala, NP_775104.2:p.Glu23Val, XP_005252437.1:p.Glu23Ala, XP_005252437.1:p.Glu23Val, XP_011517652.1:p.Glu23Ala, XP_011517652.1:p.Glu23Val, XP_016871320.1:p.Glu23Ala, XP_016871320.1:p.Glu23Val, XP_016871321.1:p.Glu23Ala, XP_016871321.1:p.Glu23Val, XP_016871322.1:p.Glu23Ala, XP_016871322.1:p.Glu23Val, NP_001269674.1:p.Glu23Ala, NP_001269674.1:p.Glu23Val, NP_001269675.1:p.Glu23Ala, NP_001269675.1:p.Glu23Val

            6.

            rs1478473070 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              10:22968367 (GRCh38)
              10:23257296 (GRCh37)
              Canonical SPDI:
              NC_000010.11:22968366:A:C,NC_000010.11:22968366:A:G
              Gene:
              ARMC3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              G=0.000156/1 (1000Genomes)
              HGVS:
              NC_000010.11:g.22968367A>C, NC_000010.11:g.22968367A>G, NC_000010.10:g.23257296A>C, NC_000010.10:g.23257296A>G, NM_173081.5:c.794A>C, NM_173081.5:c.794A>G, NM_173081.4:c.794A>C, NM_173081.4:c.794A>G, NM_173081.3:c.794A>C, NM_173081.3:c.794A>G, XM_005252380.4:c.599A>C, XM_005252380.4:c.599A>G, XM_005252380.3:c.599A>C, XM_005252380.3:c.599A>G, XM_005252380.2:c.599A>C, XM_005252380.2:c.599A>G, XM_005252380.1:c.599A>C, XM_005252380.1:c.599A>G, XM_011519350.4:c.794A>C, XM_011519350.4:c.794A>G, XM_011519350.3:c.794A>C, XM_011519350.3:c.794A>G, XM_011519350.2:c.794A>C, XM_011519350.2:c.794A>G, XM_011519350.1:c.794A>C, XM_011519350.1:c.794A>G, XM_005252381.3:c.530A>C, XM_005252381.3:c.530A>G, XM_005252381.2:c.530A>C, XM_005252381.2:c.530A>G, XM_005252381.1:c.530A>C, XM_005252381.1:c.530A>G, XM_017015831.3:c.599A>C, XM_017015831.3:c.599A>G, XM_017015831.2:c.599A>C, XM_017015831.2:c.599A>G, XM_017015831.1:c.599A>C, XM_017015831.1:c.599A>G, XM_017015832.3:c.794A>C, XM_017015832.3:c.794A>G, XM_017015832.2:c.794A>C, XM_017015832.2:c.794A>G, XM_017015832.1:c.794A>C, XM_017015832.1:c.794A>G, XM_017015833.3:c.599A>C, XM_017015833.3:c.599A>G, XM_017015833.2:c.599A>C, XM_017015833.2:c.599A>G, XM_017015833.1:c.599A>C, XM_017015833.1:c.599A>G, NM_001282745.2:c.794A>C, NM_001282745.2:c.794A>G, NM_001282745.1:c.794A>C, NM_001282745.1:c.794A>G, NM_001282747.2:c.5A>C, NM_001282747.2:c.5A>G, NM_001282747.1:c.5A>C, NM_001282747.1:c.5A>G, NM_001282746.2:c.794A>C, NM_001282746.2:c.794A>G, NM_001282746.1:c.794A>C, NM_001282746.1:c.794A>G, NP_775104.2:p.Asp265Ala, NP_775104.2:p.Asp265Gly, XP_005252437.1:p.Asp200Ala, XP_005252437.1:p.Asp200Gly, XP_011517652.1:p.Asp265Ala, XP_011517652.1:p.Asp265Gly, XP_005252438.1:p.Asp177Ala, XP_005252438.1:p.Asp177Gly, XP_016871320.1:p.Asp200Ala, XP_016871320.1:p.Asp200Gly, XP_016871321.1:p.Asp265Ala, XP_016871321.1:p.Asp265Gly, XP_016871322.1:p.Asp200Ala, XP_016871322.1:p.Asp200Gly, NP_001269674.1:p.Asp265Ala, NP_001269674.1:p.Asp265Gly, NP_001269676.1:p.Asp2Ala, NP_001269676.1:p.Asp2Gly, NP_001269675.1:p.Asp265Ala, NP_001269675.1:p.Asp265Gly

              7.

              rs1477781880 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:23006975 (GRCh38)
                10:23295904 (GRCh37)
                Canonical SPDI:
                NC_000010.11:23006974:C:T
                Gene:
                ARMC3 (Varview), LOC107984215 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.23006975C>T, NC_000010.10:g.23295904C>T, NM_173081.5:c.1823C>T, NM_173081.4:c.1823C>T, NM_173081.3:c.1823C>T, XM_005252380.4:c.1628C>T, XM_005252380.3:c.1628C>T, XM_005252380.2:c.1628C>T, XM_005252380.1:c.1628C>T, XM_011519350.4:c.1823C>T, XM_011519350.3:c.1823C>T, XM_011519350.2:c.1823C>T, XM_011519350.1:c.1823C>T, XM_005252381.3:c.1559C>T, XM_005252381.2:c.1559C>T, XM_005252381.1:c.1559C>T, XM_017015831.3:c.1628C>T, XM_017015831.2:c.1628C>T, XM_017015831.1:c.1628C>T, XM_011519351.3:c.551C>T, XM_011519351.2:c.551C>T, XM_011519351.1:c.551C>T, XM_017015832.3:c.1823C>T, XM_017015832.2:c.1823C>T, XM_017015832.1:c.1823C>T, XM_017015833.3:c.1628C>T, XM_017015833.2:c.1628C>T, XM_017015833.1:c.1628C>T, NM_001282745.2:c.1823C>T, NM_001282745.1:c.1823C>T, NM_001282747.2:c.1034C>T, NM_001282747.1:c.1034C>T, NM_001282746.2:c.1823C>T, NM_001282746.1:c.1823C>T, NP_775104.2:p.Ser608Phe, XP_005252437.1:p.Ser543Phe, XP_011517652.1:p.Ser608Phe, XP_005252438.1:p.Ser520Phe, XP_016871320.1:p.Ser543Phe, XP_011517653.1:p.Ser184Phe, XP_016871321.1:p.Ser608Phe, XP_016871322.1:p.Ser543Phe, NP_001269674.1:p.Ser608Phe, NP_001269676.1:p.Ser345Phe, NP_001269675.1:p.Ser608Phe

                8.

                rs1475337068 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  10:22981475 (GRCh38)
                  10:23270404 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:22981474:A:T
                  Gene:
                  ARMC3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.00003/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.22981475A>T, NC_000010.10:g.23270404A>T, NM_173081.5:c.1052A>T, NM_173081.4:c.1052A>T, NM_173081.3:c.1052A>T, XM_005252380.4:c.857A>T, XM_005252380.3:c.857A>T, XM_005252380.2:c.857A>T, XM_005252380.1:c.857A>T, XM_011519350.4:c.1052A>T, XM_011519350.3:c.1052A>T, XM_011519350.2:c.1052A>T, XM_011519350.1:c.1052A>T, XM_005252381.3:c.788A>T, XM_005252381.2:c.788A>T, XM_005252381.1:c.788A>T, XM_017015831.3:c.857A>T, XM_017015831.2:c.857A>T, XM_017015831.1:c.857A>T, XM_017015832.3:c.1052A>T, XM_017015832.2:c.1052A>T, XM_017015832.1:c.1052A>T, XM_017015833.3:c.857A>T, XM_017015833.2:c.857A>T, XM_017015833.1:c.857A>T, NM_001282745.2:c.1052A>T, NM_001282745.1:c.1052A>T, NM_001282747.2:c.263A>T, NM_001282747.1:c.263A>T, NM_001282746.2:c.1052A>T, NM_001282746.1:c.1052A>T, NP_775104.2:p.Asp351Val, XP_005252437.1:p.Asp286Val, XP_011517652.1:p.Asp351Val, XP_005252438.1:p.Asp263Val, XP_016871320.1:p.Asp286Val, XP_016871321.1:p.Asp351Val, XP_016871322.1:p.Asp286Val, NP_001269674.1:p.Asp351Val, NP_001269676.1:p.Asp88Val, NP_001269675.1:p.Asp351Val

                  9.

                  rs1473054113 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:23008872 (GRCh38)
                    10:23297801 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:23008871:G:A
                    Gene:
                    ARMC3 (Varview), LOC107984215 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.23008872G>A, NC_000010.10:g.23297801G>A, NM_173081.5:c.1986G>A, NM_173081.4:c.1986G>A, NM_173081.3:c.1986G>A, XM_005252380.4:c.1791G>A, XM_005252380.3:c.1791G>A, XM_005252380.2:c.1791G>A, XM_005252380.1:c.1791G>A, XM_011519350.4:c.1986G>A, XM_011519350.3:c.1986G>A, XM_011519350.2:c.1986G>A, XM_011519350.1:c.1986G>A, XM_005252381.3:c.1722G>A, XM_005252381.2:c.1722G>A, XM_005252381.1:c.1722G>A, XM_017015831.3:c.1770G>A, XM_017015831.2:c.1770G>A, XM_017015831.1:c.1770G>A, XM_011519351.3:c.714G>A, XM_011519351.2:c.714G>A, XM_011519351.1:c.714G>A, XM_017015832.3:c.1965G>A, XM_017015832.2:c.1965G>A, XM_017015832.1:c.1965G>A, XM_017015833.3:c.1791G>A, XM_017015833.2:c.1791G>A, XM_017015833.1:c.1791G>A, NM_001282745.2:c.1965G>A, NM_001282745.1:c.1965G>A, NM_001282747.2:c.1197G>A, NM_001282747.1:c.1197G>A, NM_001282746.2:c.1986G>A, NM_001282746.1:c.1986G>A

                    10.

                    rs1471928902 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:23003361 (GRCh38)
                      10:23292290 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:23003360:G:T
                      Gene:
                      ARMC3 (Varview), LOC107984215 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000010.11:g.23003361G>T, NC_000010.10:g.23292290G>T, NM_173081.5:c.1678G>T, NM_173081.4:c.1678G>T, NM_173081.3:c.1678G>T, XM_005252380.4:c.1483G>T, XM_005252380.3:c.1483G>T, XM_005252380.2:c.1483G>T, XM_005252380.1:c.1483G>T, XM_011519350.4:c.1678G>T, XM_011519350.3:c.1678G>T, XM_011519350.2:c.1678G>T, XM_011519350.1:c.1678G>T, XM_005252381.3:c.1414G>T, XM_005252381.2:c.1414G>T, XM_005252381.1:c.1414G>T, XM_017015831.3:c.1483G>T, XM_017015831.2:c.1483G>T, XM_017015831.1:c.1483G>T, XM_011519351.3:c.406G>T, XM_011519351.2:c.406G>T, XM_011519351.1:c.406G>T, XM_017015832.3:c.1678G>T, XM_017015832.2:c.1678G>T, XM_017015832.1:c.1678G>T, XM_017015833.3:c.1483G>T, XM_017015833.2:c.1483G>T, XM_017015833.1:c.1483G>T, NM_001282745.2:c.1678G>T, NM_001282745.1:c.1678G>T, NM_001282747.2:c.889G>T, NM_001282747.1:c.889G>T, NM_001282746.2:c.1678G>T, NM_001282746.1:c.1678G>T, NP_775104.2:p.Gly560Cys, XP_005252437.1:p.Gly495Cys, XP_011517652.1:p.Gly560Cys, XP_005252438.1:p.Gly472Cys, XP_016871320.1:p.Gly495Cys, XP_011517653.1:p.Gly136Cys, XP_016871321.1:p.Gly560Cys, XP_016871322.1:p.Gly495Cys, NP_001269674.1:p.Gly560Cys, NP_001269676.1:p.Gly297Cys, NP_001269675.1:p.Gly560Cys

                      11.

                      rs1471803837 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        10:22959071 (GRCh38)
                        10:23248000 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:22959070:T:A
                        Gene:
                        ARMC3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.22959071T>A, NC_000010.10:g.23248000T>A, NM_173081.5:c.294T>A, NM_173081.4:c.294T>A, NM_173081.3:c.294T>A, XM_005252380.4:c.294T>A, XM_005252380.3:c.294T>A, XM_005252380.2:c.294T>A, XM_005252380.1:c.294T>A, XM_011519350.4:c.294T>A, XM_011519350.3:c.294T>A, XM_011519350.2:c.294T>A, XM_011519350.1:c.294T>A, XM_005252381.3:c.30T>A, XM_005252381.2:c.30T>A, XM_005252381.1:c.30T>A, XM_017015831.3:c.294T>A, XM_017015831.2:c.294T>A, XM_017015831.1:c.294T>A, XM_017015832.3:c.294T>A, XM_017015832.2:c.294T>A, XM_017015832.1:c.294T>A, XM_017015833.3:c.294T>A, XM_017015833.2:c.294T>A, XM_017015833.1:c.294T>A, NM_001282745.2:c.294T>A, NM_001282745.1:c.294T>A, NM_001282747.2:c.-125T>A, NM_001282747.1:c.-125T>A, NM_001282746.2:c.294T>A, NM_001282746.1:c.294T>A, NP_775104.2:p.Asn98Lys, XP_005252437.1:p.Asn98Lys, XP_011517652.1:p.Asn98Lys, XP_005252438.1:p.Asn10Lys, XP_016871320.1:p.Asn98Lys, XP_016871321.1:p.Asn98Lys, XP_016871322.1:p.Asn98Lys, NP_001269674.1:p.Asn98Lys, NP_001269675.1:p.Asn98Lys

                        12.

                        rs1471330916 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:23006920 (GRCh38)
                          10:23295849 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:23006919:C:T
                          Gene:
                          ARMC3 (Varview), LOC107984215 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.23006920C>T, NC_000010.10:g.23295849C>T, NM_173081.5:c.1768C>T, NM_173081.4:c.1768C>T, NM_173081.3:c.1768C>T, XM_005252380.4:c.1573C>T, XM_005252380.3:c.1573C>T, XM_005252380.2:c.1573C>T, XM_005252380.1:c.1573C>T, XM_011519350.4:c.1768C>T, XM_011519350.3:c.1768C>T, XM_011519350.2:c.1768C>T, XM_011519350.1:c.1768C>T, XM_005252381.3:c.1504C>T, XM_005252381.2:c.1504C>T, XM_005252381.1:c.1504C>T, XM_017015831.3:c.1573C>T, XM_017015831.2:c.1573C>T, XM_017015831.1:c.1573C>T, XM_011519351.3:c.496C>T, XM_011519351.2:c.496C>T, XM_011519351.1:c.496C>T, XM_017015832.3:c.1768C>T, XM_017015832.2:c.1768C>T, XM_017015832.1:c.1768C>T, XM_017015833.3:c.1573C>T, XM_017015833.2:c.1573C>T, XM_017015833.1:c.1573C>T, NM_001282745.2:c.1768C>T, NM_001282745.1:c.1768C>T, NM_001282747.2:c.979C>T, NM_001282747.1:c.979C>T, NM_001282746.2:c.1768C>T, NM_001282746.1:c.1768C>T, NP_775104.2:p.Leu590Phe, XP_005252437.1:p.Leu525Phe, XP_011517652.1:p.Leu590Phe, XP_005252438.1:p.Leu502Phe, XP_016871320.1:p.Leu525Phe, XP_011517653.1:p.Leu166Phe, XP_016871321.1:p.Leu590Phe, XP_016871322.1:p.Leu525Phe, NP_001269674.1:p.Leu590Phe, NP_001269676.1:p.Leu327Phe, NP_001269675.1:p.Leu590Phe

                          13.

                          rs1471137191 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:22946209 (GRCh38)
                            10:23235138 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:22946208:A:G
                            Gene:
                            ARMC3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1469325164 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              10:23006917 (GRCh38)
                              10:23295846 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:23006916:G:A,NC_000010.11:23006916:G:C
                              Gene:
                              ARMC3 (Varview), LOC107984215 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000010.11:g.23006917G>A, NC_000010.11:g.23006917G>C, NC_000010.10:g.23295846G>A, NC_000010.10:g.23295846G>C, NM_173081.5:c.1765G>A, NM_173081.5:c.1765G>C, NM_173081.4:c.1765G>A, NM_173081.4:c.1765G>C, NM_173081.3:c.1765G>A, NM_173081.3:c.1765G>C, XM_005252380.4:c.1570G>A, XM_005252380.4:c.1570G>C, XM_005252380.3:c.1570G>A, XM_005252380.3:c.1570G>C, XM_005252380.2:c.1570G>A, XM_005252380.2:c.1570G>C, XM_005252380.1:c.1570G>A, XM_005252380.1:c.1570G>C, XM_011519350.4:c.1765G>A, XM_011519350.4:c.1765G>C, XM_011519350.3:c.1765G>A, XM_011519350.3:c.1765G>C, XM_011519350.2:c.1765G>A, XM_011519350.2:c.1765G>C, XM_011519350.1:c.1765G>A, XM_011519350.1:c.1765G>C, XM_005252381.3:c.1501G>A, XM_005252381.3:c.1501G>C, XM_005252381.2:c.1501G>A, XM_005252381.2:c.1501G>C, XM_005252381.1:c.1501G>A, XM_005252381.1:c.1501G>C, XM_017015831.3:c.1570G>A, XM_017015831.3:c.1570G>C, XM_017015831.2:c.1570G>A, XM_017015831.2:c.1570G>C, XM_017015831.1:c.1570G>A, XM_017015831.1:c.1570G>C, XM_011519351.3:c.493G>A, XM_011519351.3:c.493G>C, XM_011519351.2:c.493G>A, XM_011519351.2:c.493G>C, XM_011519351.1:c.493G>A, XM_011519351.1:c.493G>C, XM_017015832.3:c.1765G>A, XM_017015832.3:c.1765G>C, XM_017015832.2:c.1765G>A, XM_017015832.2:c.1765G>C, XM_017015832.1:c.1765G>A, XM_017015832.1:c.1765G>C, XM_017015833.3:c.1570G>A, XM_017015833.3:c.1570G>C, XM_017015833.2:c.1570G>A, XM_017015833.2:c.1570G>C, XM_017015833.1:c.1570G>A, XM_017015833.1:c.1570G>C, NM_001282745.2:c.1765G>A, NM_001282745.2:c.1765G>C, NM_001282745.1:c.1765G>A, NM_001282745.1:c.1765G>C, NM_001282747.2:c.976G>A, NM_001282747.2:c.976G>C, NM_001282747.1:c.976G>A, NM_001282747.1:c.976G>C, NM_001282746.2:c.1765G>A, NM_001282746.2:c.1765G>C, NM_001282746.1:c.1765G>A, NM_001282746.1:c.1765G>C, NP_775104.2:p.Glu589Lys, NP_775104.2:p.Glu589Gln, XP_005252437.1:p.Glu524Lys, XP_005252437.1:p.Glu524Gln, XP_011517652.1:p.Glu589Lys, XP_011517652.1:p.Glu589Gln, XP_005252438.1:p.Glu501Lys, XP_005252438.1:p.Glu501Gln, XP_016871320.1:p.Glu524Lys, XP_016871320.1:p.Glu524Gln, XP_011517653.1:p.Glu165Lys, XP_011517653.1:p.Glu165Gln, XP_016871321.1:p.Glu589Lys, XP_016871321.1:p.Glu589Gln, XP_016871322.1:p.Glu524Lys, XP_016871322.1:p.Glu524Gln, NP_001269674.1:p.Glu589Lys, NP_001269674.1:p.Glu589Gln, NP_001269676.1:p.Glu326Lys, NP_001269676.1:p.Glu326Gln, NP_001269675.1:p.Glu589Lys, NP_001269675.1:p.Glu589Gln

                              15.

                              rs1469293901 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                10:22998158 (GRCh38)
                                10:23287088 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:22998158:AA:AAA
                                Gene:
                                ARMC3 (Varview), LOC107984215 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant,intron_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                AAA=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.22998160dup, NC_000010.10:g.23287089dup, NM_173081.5:c.1188dup, NM_173081.4:c.1188dup, NM_173081.3:c.1188dup, XM_005252380.4:c.993dup, XM_005252380.3:c.993dup, XM_005252380.2:c.993dup, XM_005252380.1:c.993dup, XM_011519350.4:c.1188dup, XM_011519350.3:c.1188dup, XM_011519350.2:c.1188dup, XM_011519350.1:c.1188dup, XM_005252381.3:c.924dup, XM_005252381.2:c.924dup, XM_005252381.1:c.924dup, XM_017015831.3:c.993dup, XM_017015831.2:c.993dup, XM_017015831.1:c.993dup, XM_011519351.3:c.-85dup, XM_011519351.2:c.-85dup, XM_011519351.1:c.-85dup, XM_017015832.3:c.1188dup, XM_017015832.2:c.1188dup, XM_017015832.1:c.1188dup, XM_017015833.3:c.993dup, XM_017015833.2:c.993dup, XM_017015833.1:c.993dup, NM_001282745.2:c.1188dup, NM_001282745.1:c.1188dup, NM_001282747.2:c.399dup, NM_001282747.1:c.399dup, NM_001282746.2:c.1188dup, NM_001282746.1:c.1188dup, NP_775104.2:p.Ala397fs, XP_005252437.1:p.Ala332fs, XP_011517652.1:p.Ala397fs, XP_005252438.1:p.Ala309fs, XP_016871320.1:p.Ala332fs, XP_016871321.1:p.Ala397fs, XP_016871322.1:p.Ala332fs, NP_001269674.1:p.Ala397fs, NP_001269676.1:p.Ala134fs, NP_001269675.1:p.Ala397fs

                                16.

                                rs1468571359 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:22968479 (GRCh38)
                                  10:23257408 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:22968478:A:G
                                  Gene:
                                  ARMC3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1467647784 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:22981633 (GRCh38)
                                    10:23270562 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:22981632:G:A
                                    Gene:
                                    ARMC3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                    HGVS:
                                    NC_000010.11:g.22981633G>A, NC_000010.10:g.23270562G>A, NM_173081.5:c.1108G>A, NM_173081.4:c.1108G>A, NM_173081.3:c.1108G>A, XM_005252380.4:c.913G>A, XM_005252380.3:c.913G>A, XM_005252380.2:c.913G>A, XM_005252380.1:c.913G>A, XM_011519350.4:c.1108G>A, XM_011519350.3:c.1108G>A, XM_011519350.2:c.1108G>A, XM_011519350.1:c.1108G>A, XM_005252381.3:c.844G>A, XM_005252381.2:c.844G>A, XM_005252381.1:c.844G>A, XM_017015831.3:c.913G>A, XM_017015831.2:c.913G>A, XM_017015831.1:c.913G>A, XM_017015832.3:c.1108G>A, XM_017015832.2:c.1108G>A, XM_017015832.1:c.1108G>A, XM_017015833.3:c.913G>A, XM_017015833.2:c.913G>A, XM_017015833.1:c.913G>A, NM_001282745.2:c.1108G>A, NM_001282745.1:c.1108G>A, NM_001282747.2:c.319G>A, NM_001282747.1:c.319G>A, NM_001282746.2:c.1108G>A, NM_001282746.1:c.1108G>A, NP_775104.2:p.Glu370Lys, XP_005252437.1:p.Glu305Lys, XP_011517652.1:p.Glu370Lys, XP_005252438.1:p.Glu282Lys, XP_016871320.1:p.Glu305Lys, XP_016871321.1:p.Glu370Lys, XP_016871322.1:p.Glu305Lys, NP_001269674.1:p.Glu370Lys, NP_001269676.1:p.Glu107Lys, NP_001269675.1:p.Glu370Lys

                                    18.

                                    rs1465285424 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      10:22962052 (GRCh38)
                                      10:23250981 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:22962051:C:A
                                      Gene:
                                      ARMC3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                                      HGVS:

                                      19.

                                      rs1462828960 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        10:23008820 (GRCh38)
                                        10:23297749 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:23008819:A:C,NC_000010.11:23008819:A:G
                                        Gene:
                                        ARMC3 (Varview), LOC107984215 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.23008820A>C, NC_000010.11:g.23008820A>G, NC_000010.10:g.23297749A>C, NC_000010.10:g.23297749A>G, NM_173081.5:c.1934A>C, NM_173081.5:c.1934A>G, NM_173081.4:c.1934A>C, NM_173081.4:c.1934A>G, NM_173081.3:c.1934A>C, NM_173081.3:c.1934A>G, XM_005252380.4:c.1739A>C, XM_005252380.4:c.1739A>G, XM_005252380.3:c.1739A>C, XM_005252380.3:c.1739A>G, XM_005252380.2:c.1739A>C, XM_005252380.2:c.1739A>G, XM_005252380.1:c.1739A>C, XM_005252380.1:c.1739A>G, XM_011519350.4:c.1934A>C, XM_011519350.4:c.1934A>G, XM_011519350.3:c.1934A>C, XM_011519350.3:c.1934A>G, XM_011519350.2:c.1934A>C, XM_011519350.2:c.1934A>G, XM_011519350.1:c.1934A>C, XM_011519350.1:c.1934A>G, XM_005252381.3:c.1670A>C, XM_005252381.3:c.1670A>G, XM_005252381.2:c.1670A>C, XM_005252381.2:c.1670A>G, XM_005252381.1:c.1670A>C, XM_005252381.1:c.1670A>G, XM_011519351.3:c.662A>C, XM_011519351.3:c.662A>G, XM_011519351.2:c.662A>C, XM_011519351.2:c.662A>G, XM_011519351.1:c.662A>C, XM_011519351.1:c.662A>G, XM_017015833.3:c.1739A>C, XM_017015833.3:c.1739A>G, XM_017015833.2:c.1739A>C, XM_017015833.2:c.1739A>G, XM_017015833.1:c.1739A>C, XM_017015833.1:c.1739A>G, NM_001282747.2:c.1145A>C, NM_001282747.2:c.1145A>G, NM_001282747.1:c.1145A>C, NM_001282747.1:c.1145A>G, NM_001282746.2:c.1934A>C, NM_001282746.2:c.1934A>G, NM_001282746.1:c.1934A>C, NM_001282746.1:c.1934A>G, NP_775104.2:p.Asn645Thr, NP_775104.2:p.Asn645Ser, XP_005252437.1:p.Asn580Thr, XP_005252437.1:p.Asn580Ser, XP_011517652.1:p.Asn645Thr, XP_011517652.1:p.Asn645Ser, XP_005252438.1:p.Asn557Thr, XP_005252438.1:p.Asn557Ser, XP_011517653.1:p.Asn221Thr, XP_011517653.1:p.Asn221Ser, XP_016871322.1:p.Asn580Thr, XP_016871322.1:p.Asn580Ser, NP_001269676.1:p.Asn382Thr, NP_001269676.1:p.Asn382Ser, NP_001269675.1:p.Asn645Thr, NP_001269675.1:p.Asn645Ser

                                        20.

                                        rs1462545410 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:22959548 (GRCh38)
                                          10:23248477 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:22959547:A:G
                                          Gene:
                                          ARMC3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.22959548A>G, NC_000010.10:g.23248477A>G, NM_173081.5:c.511A>G, NM_173081.4:c.511A>G, NM_173081.3:c.511A>G, XM_005252380.4:c.511A>G, XM_005252380.3:c.511A>G, XM_005252380.2:c.511A>G, XM_005252380.1:c.511A>G, XM_011519350.4:c.511A>G, XM_011519350.3:c.511A>G, XM_011519350.2:c.511A>G, XM_011519350.1:c.511A>G, XM_005252381.3:c.247A>G, XM_005252381.2:c.247A>G, XM_005252381.1:c.247A>G, XM_017015831.3:c.511A>G, XM_017015831.2:c.511A>G, XM_017015831.1:c.511A>G, XM_017015832.3:c.511A>G, XM_017015832.2:c.511A>G, XM_017015832.1:c.511A>G, XM_017015833.3:c.511A>G, XM_017015833.2:c.511A>G, XM_017015833.1:c.511A>G, NM_001282745.2:c.511A>G, NM_001282745.1:c.511A>G, NM_001282746.2:c.511A>G, NM_001282746.1:c.511A>G, NP_775104.2:p.Met171Val, XP_005252437.1:p.Met171Val, XP_011517652.1:p.Met171Val, XP_005252438.1:p.Met83Val, XP_016871320.1:p.Met171Val, XP_016871321.1:p.Met171Val, XP_016871322.1:p.Met171Val, NP_001269674.1:p.Met171Val, NP_001269675.1:p.Met171Val

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