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Links from Protein

Items: 1 to 20 of 230

1.

rs1491033566 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    7:103081892 (GRCh38)
    7:102722340 (GRCh37)
    Canonical SPDI:
    NC_000007.14:103081892:G:GG
    Gene:
    ARMC10 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GG=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1488010768 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      7:103075337 (GRCh38)
      7:102715784 (GRCh37)
      Canonical SPDI:
      NC_000007.14:103075336:A:G
      Gene:
      ARMC10 (Varview), FBXL13 (Varview)
      Functional Consequence:
      missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.000015/4 (TOPMED)
      HGVS:
      NC_000007.14:g.103075337A>G, NC_000007.13:g.102715784A>G, NG_030014.1:g.5457A>G, NM_031905.5:c.65A>G, NM_031905.4:c.65A>G, NM_001161009.3:c.65A>G, NM_001161009.2:c.65A>G, NM_001161011.3:c.65A>G, NM_001161011.2:c.65A>G, NM_001161010.3:c.65A>G, NM_001161010.2:c.65A>G, NM_001161012.3:c.65A>G, NM_001161012.2:c.65A>G, NM_001161013.3:c.65A>G, NM_001161013.2:c.65A>G, XM_011516601.4:c.65A>G, XM_011516601.3:c.65A>G, XM_011516601.2:c.65A>G, XM_011516601.1:c.65A>G, XM_005250628.4:c.65A>G, XM_005250628.3:c.65A>G, XM_005250628.2:c.65A>G, XM_005250628.1:c.65A>G, XM_017012689.3:c.65A>G, XM_017012689.2:c.65A>G, XM_017012689.1:c.65A>G, XM_017012684.3:c.65A>G, XM_017012684.2:c.65A>G, XM_017012684.1:c.65A>G, XM_017012685.3:c.65A>G, XM_017012685.2:c.65A>G, XM_017012685.1:c.65A>G, XM_017012688.3:c.65A>G, XM_017012688.2:c.65A>G, XM_017012688.1:c.65A>G, XM_047420918.1:c.65A>G, XM_047420912.1:c.65A>G, XM_047420913.1:c.65A>G, XM_047420914.1:c.65A>G, XM_047420915.1:c.65A>G, XM_047420916.1:c.65A>G, XM_047420917.1:c.65A>G, NP_114111.2:p.Tyr22Cys, NP_001154481.1:p.Tyr22Cys, NP_001154483.1:p.Tyr22Cys, NP_001154482.1:p.Tyr22Cys, NP_001154484.1:p.Tyr22Cys, NP_001154485.1:p.Tyr22Cys, XP_011514903.1:p.Tyr22Cys, XP_005250685.1:p.Tyr22Cys, XP_016868178.1:p.Tyr22Cys, XP_016868173.1:p.Tyr22Cys, XP_016868174.1:p.Tyr22Cys, XP_016868177.1:p.Tyr22Cys, XP_047276874.1:p.Tyr22Cys, XP_047276868.1:p.Tyr22Cys, XP_047276869.1:p.Tyr22Cys, XP_047276870.1:p.Tyr22Cys, XP_047276871.1:p.Tyr22Cys, XP_047276872.1:p.Tyr22Cys, XP_047276873.1:p.Tyr22Cys

      3.

      rs1485415817 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        7:103086903 (GRCh38)
        7:102727350 (GRCh37)
        Canonical SPDI:
        NC_000007.14:103086902:C:G,NC_000007.14:103086902:C:T
        Gene:
        ARMC10 (Varview)
        Functional Consequence:
        intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        T=0.000014/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1484088894 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          7:103086900 (GRCh38)
          7:102727347 (GRCh37)
          Canonical SPDI:
          NC_000007.14:103086899:A:C
          Gene:
          ARMC10 (Varview)
          Functional Consequence:
          intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1479798292 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:103075843 (GRCh38)
            7:102716290 (GRCh37)
            Canonical SPDI:
            NC_000007.14:103075842:G:A
            Gene:
            ARMC10 (Varview), FBXL13 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.0002/1 (ALFA)
            A=0.0002/1 (Estonian)
            HGVS:
            NC_000007.14:g.103075843G>A, NC_000007.13:g.102716290G>A, NG_030014.1:g.5963G>A, NM_031905.5:c.206G>A, NM_031905.4:c.206G>A, NM_001161010.3:c.206G>A, NM_001161010.2:c.206G>A, XM_005250628.4:c.206G>A, XM_005250628.3:c.206G>A, XM_005250628.2:c.206G>A, XM_005250628.1:c.206G>A, XM_017012689.3:c.206G>A, XM_017012689.2:c.206G>A, XM_017012689.1:c.206G>A, XM_017012684.3:c.206G>A, XM_017012684.2:c.206G>A, XM_017012684.1:c.206G>A, XM_017012685.3:c.206G>A, XM_017012685.2:c.206G>A, XM_017012685.1:c.206G>A, XM_017012688.3:c.206G>A, XM_017012688.2:c.206G>A, XM_017012688.1:c.206G>A, XM_047420918.1:c.206G>A, XM_047420912.1:c.206G>A, XM_047420913.1:c.206G>A, XM_047420914.1:c.206G>A, XM_047420915.1:c.206G>A, XM_047420916.1:c.206G>A, XM_047420917.1:c.206G>A, NP_114111.2:p.Gly69Asp, NP_001154482.1:p.Gly69Asp, XP_005250685.1:p.Gly69Asp, XP_016868178.1:p.Gly69Asp, XP_016868173.1:p.Gly69Asp, XP_016868174.1:p.Gly69Asp, XP_016868177.1:p.Gly69Asp, XP_047276874.1:p.Gly69Asp, XP_047276868.1:p.Gly69Asp, XP_047276869.1:p.Gly69Asp, XP_047276870.1:p.Gly69Asp, XP_047276871.1:p.Gly69Asp, XP_047276872.1:p.Gly69Asp, XP_047276873.1:p.Gly69Asp

            6.

            rs1478752434 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              7:103083692 (GRCh38)
              7:102724139 (GRCh37)
              Canonical SPDI:
              NC_000007.14:103083691:T:G
              Gene:
              ARMC10 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000007.14:g.103083692T>G, NC_000007.13:g.102724139T>G, NG_030014.1:g.13812T>G, NM_031905.5:c.255T>G, NM_031905.4:c.255T>G, NM_001161009.3:c.150T>G, NM_001161009.2:c.150T>G, NM_001161011.3:c.150T>G, NM_001161011.2:c.150T>G, NM_001161010.3:c.255T>G, NM_001161010.2:c.255T>G, NM_001161012.3:c.150T>G, NM_001161012.2:c.150T>G, NM_001161013.3:c.150T>G, NM_001161013.2:c.150T>G, XM_011516601.4:c.174T>G, XM_011516601.3:c.174T>G, XM_011516601.2:c.174T>G, XM_011516601.1:c.174T>G, XM_005250628.4:c.255T>G, XM_005250628.3:c.255T>G, XM_005250628.2:c.255T>G, XM_005250628.1:c.255T>G, XM_017012689.3:c.282T>G, XM_017012689.2:c.282T>G, XM_017012689.1:c.282T>G, XM_017012684.3:c.282T>G, XM_017012684.2:c.282T>G, XM_017012684.1:c.282T>G, XM_017012685.3:c.282T>G, XM_017012685.2:c.282T>G, XM_017012685.1:c.282T>G, XM_017012688.3:c.282T>G, XM_017012688.2:c.282T>G, XM_017012688.1:c.282T>G, XM_047420918.1:c.282T>G, XM_047420912.1:c.369T>G, XM_047420913.1:c.348T>G, XM_047420914.1:c.369T>G, XM_047420915.1:c.369T>G, XM_047420916.1:c.255T>G, XM_047420917.1:c.348T>G

              7.

              rs1477251060 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                7:103075811 (GRCh38)
                7:102716258 (GRCh37)
                Canonical SPDI:
                NC_000007.14:103075810:G:C
                Gene:
                ARMC10 (Varview), FBXL13 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.103075811G>C, NC_000007.13:g.102716258G>C, NG_030014.1:g.5931G>C, NM_031905.5:c.174G>C, NM_031905.4:c.174G>C, NM_001161010.3:c.174G>C, NM_001161010.2:c.174G>C, XM_005250628.4:c.174G>C, XM_005250628.3:c.174G>C, XM_005250628.2:c.174G>C, XM_005250628.1:c.174G>C, XM_017012689.3:c.174G>C, XM_017012689.2:c.174G>C, XM_017012689.1:c.174G>C, XM_017012684.3:c.174G>C, XM_017012684.2:c.174G>C, XM_017012684.1:c.174G>C, XM_017012685.3:c.174G>C, XM_017012685.2:c.174G>C, XM_017012685.1:c.174G>C, XM_017012688.3:c.174G>C, XM_017012688.2:c.174G>C, XM_017012688.1:c.174G>C, XM_047420918.1:c.174G>C, XM_047420912.1:c.174G>C, XM_047420913.1:c.174G>C, XM_047420914.1:c.174G>C, XM_047420915.1:c.174G>C, XM_047420916.1:c.174G>C, XM_047420917.1:c.174G>C, NP_114111.2:p.Leu58Phe, NP_001154482.1:p.Leu58Phe, XP_005250685.1:p.Leu58Phe, XP_016868178.1:p.Leu58Phe, XP_016868173.1:p.Leu58Phe, XP_016868174.1:p.Leu58Phe, XP_016868177.1:p.Leu58Phe, XP_047276874.1:p.Leu58Phe, XP_047276868.1:p.Leu58Phe, XP_047276869.1:p.Leu58Phe, XP_047276870.1:p.Leu58Phe, XP_047276871.1:p.Leu58Phe, XP_047276872.1:p.Leu58Phe, XP_047276873.1:p.Leu58Phe

                8.

                rs1470582427 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  7:103086636 (GRCh38)
                  7:102727083 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:103086635:A:T
                  Gene:
                  ARMC10 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000007.14:g.103086636A>T, NC_000007.13:g.102727083A>T, NG_030014.1:g.16756A>T, NM_031905.5:c.400A>T, NM_031905.4:c.400A>T, NM_001161009.3:c.295A>T, NM_001161009.2:c.295A>T, NM_001161011.3:c.295A>T, NM_001161011.2:c.295A>T, NM_001161010.3:c.400A>T, NM_001161010.2:c.400A>T, NM_001161012.3:c.295A>T, NM_001161012.2:c.295A>T, NM_001161013.3:c.295A>T, NM_001161013.2:c.295A>T, NT_187559.1:g.158093T>A, XM_011516601.4:c.319A>T, XM_011516601.3:c.319A>T, XM_011516601.2:c.319A>T, XM_011516601.1:c.319A>T, XM_017012689.3:c.*2493A>T, XM_017012684.3:c.427A>T, XM_017012684.2:c.427A>T, XM_017012684.1:c.427A>T, XM_017012685.3:c.427A>T, XM_017012685.2:c.427A>T, XM_017012685.1:c.427A>T, XM_017012688.3:c.427A>T, XM_017012688.2:c.427A>T, XM_017012688.1:c.427A>T, XM_005250628.4:c.400A>T, XM_005250628.3:c.400A>T, XM_005250628.2:c.400A>T, XM_005250628.1:c.400A>T, XM_047420918.1:c.427A>T, XM_047420913.1:c.493A>T, XM_047420914.1:c.514A>T, XM_047420915.1:c.514A>T, XM_047420916.1:c.400A>T, XM_047420917.1:c.493A>T, XM_047420912.1:c.514A>T, NP_114111.2:p.Ile134Phe, NP_001154481.1:p.Ile99Phe, NP_001154483.1:p.Ile99Phe, NP_001154482.1:p.Ile134Phe, NP_001154484.1:p.Ile99Phe, NP_001154485.1:p.Ile99Phe, XP_011514903.1:p.Ile107Phe, XP_016868173.1:p.Ile143Phe, XP_016868174.1:p.Ile143Phe, XP_016868177.1:p.Ile143Phe, XP_005250685.1:p.Ile134Phe, XP_047276874.1:p.Ile143Phe, XP_047276869.1:p.Ile165Phe, XP_047276870.1:p.Ile172Phe, XP_047276871.1:p.Ile172Phe, XP_047276872.1:p.Ile134Phe, XP_047276873.1:p.Ile165Phe, XP_047276868.1:p.Ile172Phe

                  9.

                  rs1468703832 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->ATTAAAGA [Show Flanks]
                    Chromosome:
                    7:103086695 (GRCh38)
                    7:102727143 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:103086695:ATTAAAGA:ATTAAAGAATTAAAGA
                    Gene:
                    ARMC10 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,downstream_transcript_variant,frameshift_variant
                    Validated:
                    by frequency
                    MAF:
                    ATTAAAGA=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000007.14:g.103086696_103086703dup, NC_000007.13:g.102727143_102727150dup, NG_030014.1:g.16816_16823dup, NM_031905.5:c.460_467dup, NM_031905.4:c.460_467dup, NM_001161009.3:c.355_362dup, NM_001161009.2:c.355_362dup, NM_001161011.3:c.355_362dup, NM_001161011.2:c.355_362dup, NM_001161010.3:c.460_467dup, NM_001161010.2:c.460_467dup, NM_001161012.3:c.355_362dup, NM_001161012.2:c.355_362dup, NM_001161013.3:c.355_362dup, NM_001161013.2:c.355_362dup, NT_187559.1:g.158026_158033dup, XM_011516601.4:c.379_386dup, XM_011516601.3:c.379_386dup, XM_011516601.2:c.379_386dup, XM_011516601.1:c.379_386dup, XM_017012684.3:c.487_494dup, XM_017012684.2:c.487_494dup, XM_017012684.1:c.487_494dup, XM_017012685.3:c.487_494dup, XM_017012685.2:c.487_494dup, XM_017012685.1:c.487_494dup, XM_017012688.3:c.487_494dup, XM_017012688.2:c.487_494dup, XM_017012688.1:c.487_494dup, XM_005250628.4:c.460_467dup, XM_005250628.3:c.460_467dup, XM_005250628.2:c.460_467dup, XM_005250628.1:c.460_467dup, XM_047420918.1:c.487_494dup, XM_047420913.1:c.553_560dup, XM_047420914.1:c.574_581dup, XM_047420915.1:c.574_581dup, XM_047420916.1:c.460_467dup, XM_047420917.1:c.553_560dup, XM_047420912.1:c.574_581dup, NP_114111.2:p.Lys157fs, NP_001154481.1:p.Lys122fs, NP_001154483.1:p.Lys122fs, NP_001154482.1:p.Lys157fs, NP_001154484.1:p.Lys122fs, NP_001154485.1:p.Lys122fs, XP_011514903.1:p.Lys130fs, XP_016868173.1:p.Lys166fs, XP_016868174.1:p.Lys166fs, XP_016868177.1:p.Lys166fs, XP_005250685.1:p.Lys157fs, XP_047276874.1:p.Lys166fs, XP_047276869.1:p.Lys188fs, XP_047276870.1:p.Lys195fs, XP_047276871.1:p.Lys195fs, XP_047276872.1:p.Lys157fs, XP_047276873.1:p.Lys188fs, XP_047276868.1:p.Lys195fs

                    10.

                    rs1466927378 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:103083787 (GRCh38)
                      7:102724234 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:103083786:C:T
                      Gene:
                      ARMC10 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000007.14:g.103083787C>T, NC_000007.13:g.102724234C>T, NG_030014.1:g.13907C>T, NM_031905.5:c.350C>T, NM_031905.4:c.350C>T, NM_001161009.3:c.245C>T, NM_001161009.2:c.245C>T, NM_001161011.3:c.245C>T, NM_001161011.2:c.245C>T, NM_001161010.3:c.350C>T, NM_001161010.2:c.350C>T, NM_001161012.3:c.245C>T, NM_001161012.2:c.245C>T, NM_001161013.3:c.245C>T, NM_001161013.2:c.245C>T, XM_011516601.4:c.269C>T, XM_011516601.3:c.269C>T, XM_011516601.2:c.269C>T, XM_011516601.1:c.269C>T, XM_005250628.4:c.350C>T, XM_005250628.3:c.350C>T, XM_005250628.2:c.350C>T, XM_005250628.1:c.350C>T, XM_017012689.3:c.377C>T, XM_017012689.2:c.377C>T, XM_017012689.1:c.377C>T, XM_017012684.3:c.377C>T, XM_017012684.2:c.377C>T, XM_017012684.1:c.377C>T, XM_017012685.3:c.377C>T, XM_017012685.2:c.377C>T, XM_017012685.1:c.377C>T, XM_017012688.3:c.377C>T, XM_017012688.2:c.377C>T, XM_017012688.1:c.377C>T, XM_047420918.1:c.377C>T, XM_047420912.1:c.464C>T, XM_047420913.1:c.443C>T, XM_047420914.1:c.464C>T, XM_047420915.1:c.464C>T, XM_047420916.1:c.350C>T, XM_047420917.1:c.443C>T, NP_114111.2:p.Ala117Val, NP_001154481.1:p.Ala82Val, NP_001154483.1:p.Ala82Val, NP_001154482.1:p.Ala117Val, NP_001154484.1:p.Ala82Val, NP_001154485.1:p.Ala82Val, XP_011514903.1:p.Ala90Val, XP_005250685.1:p.Ala117Val, XP_016868178.1:p.Ala126Val, XP_016868173.1:p.Ala126Val, XP_016868174.1:p.Ala126Val, XP_016868177.1:p.Ala126Val, XP_047276874.1:p.Ala126Val, XP_047276868.1:p.Ala155Val, XP_047276869.1:p.Ala148Val, XP_047276870.1:p.Ala155Val, XP_047276871.1:p.Ala155Val, XP_047276872.1:p.Ala117Val, XP_047276873.1:p.Ala148Val

                      11.

                      rs1459758401 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        7:103075320 (GRCh38)
                        7:102715767 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:103075319:C:G
                        Gene:
                        ARMC10 (Varview), FBXL13 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        G=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000007.14:g.103075320C>G, NC_000007.13:g.102715767C>G, NG_030014.1:g.5440C>G, NM_031905.5:c.48C>G, NM_031905.4:c.48C>G, NM_001161009.3:c.48C>G, NM_001161009.2:c.48C>G, NM_001161011.3:c.48C>G, NM_001161011.2:c.48C>G, NM_001161010.3:c.48C>G, NM_001161010.2:c.48C>G, NM_001161012.3:c.48C>G, NM_001161012.2:c.48C>G, NM_001161013.3:c.48C>G, NM_001161013.2:c.48C>G, XM_011516601.4:c.48C>G, XM_011516601.3:c.48C>G, XM_011516601.2:c.48C>G, XM_011516601.1:c.48C>G, XM_005250628.4:c.48C>G, XM_005250628.3:c.48C>G, XM_005250628.2:c.48C>G, XM_005250628.1:c.48C>G, XM_017012689.3:c.48C>G, XM_017012689.2:c.48C>G, XM_017012689.1:c.48C>G, XM_017012684.3:c.48C>G, XM_017012684.2:c.48C>G, XM_017012684.1:c.48C>G, XM_017012685.3:c.48C>G, XM_017012685.2:c.48C>G, XM_017012685.1:c.48C>G, XM_017012688.3:c.48C>G, XM_017012688.2:c.48C>G, XM_017012688.1:c.48C>G, XM_047420918.1:c.48C>G, XM_047420912.1:c.48C>G, XM_047420913.1:c.48C>G, XM_047420914.1:c.48C>G, XM_047420915.1:c.48C>G, XM_047420916.1:c.48C>G, XM_047420917.1:c.48C>G

                        12.

                        rs1459559463 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          7:103083825 (GRCh38)
                          7:102724272 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:103083824:A:G
                          Gene:
                          ARMC10 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.103083825A>G, NC_000007.13:g.102724272A>G, NG_030014.1:g.13945A>G, NM_031905.5:c.388A>G, NM_031905.4:c.388A>G, NM_001161009.3:c.283A>G, NM_001161009.2:c.283A>G, NM_001161011.3:c.283A>G, NM_001161011.2:c.283A>G, NM_001161010.3:c.388A>G, NM_001161010.2:c.388A>G, NM_001161012.3:c.283A>G, NM_001161012.2:c.283A>G, NM_001161013.3:c.283A>G, NM_001161013.2:c.283A>G, XM_011516601.4:c.307A>G, XM_011516601.3:c.307A>G, XM_011516601.2:c.307A>G, XM_011516601.1:c.307A>G, XM_005250628.4:c.388A>G, XM_005250628.3:c.388A>G, XM_005250628.2:c.388A>G, XM_005250628.1:c.388A>G, XM_017012689.3:c.415A>G, XM_017012689.2:c.415A>G, XM_017012689.1:c.415A>G, XM_017012684.3:c.415A>G, XM_017012684.2:c.415A>G, XM_017012684.1:c.415A>G, XM_017012685.3:c.415A>G, XM_017012685.2:c.415A>G, XM_017012685.1:c.415A>G, XM_017012688.3:c.415A>G, XM_017012688.2:c.415A>G, XM_017012688.1:c.415A>G, XM_047420918.1:c.415A>G, XM_047420912.1:c.502A>G, XM_047420913.1:c.481A>G, XM_047420914.1:c.502A>G, XM_047420915.1:c.502A>G, XM_047420916.1:c.388A>G, XM_047420917.1:c.481A>G, NP_114111.2:p.Asn130Asp, NP_001154481.1:p.Asn95Asp, NP_001154483.1:p.Asn95Asp, NP_001154482.1:p.Asn130Asp, NP_001154484.1:p.Asn95Asp, NP_001154485.1:p.Asn95Asp, XP_011514903.1:p.Asn103Asp, XP_005250685.1:p.Asn130Asp, XP_016868178.1:p.Asn139Asp, XP_016868173.1:p.Asn139Asp, XP_016868174.1:p.Asn139Asp, XP_016868177.1:p.Asn139Asp, XP_047276874.1:p.Asn139Asp, XP_047276868.1:p.Asn168Asp, XP_047276869.1:p.Asn161Asp, XP_047276870.1:p.Asn168Asp, XP_047276871.1:p.Asn168Asp, XP_047276872.1:p.Asn130Asp, XP_047276873.1:p.Asn161Asp

                          13.

                          rs1458837325 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            7:103081906 (GRCh38)
                            7:102722353 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:103081905:A:G
                            Gene:
                            ARMC10 (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=0.000007/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1458571878 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:103075817 (GRCh38)
                              7:102716264 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:103075816:G:A
                              Gene:
                              ARMC10 (Varview), FBXL13 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000084/1 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:

                              15.

                              rs1456716696 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                7:103075388 (GRCh38)
                                7:102715835 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:103075387:G:T
                                Gene:
                                ARMC10 (Varview), FBXL13 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000007.14:g.103075388G>T, NC_000007.13:g.102715835G>T, NG_030014.1:g.5508G>T, NM_031905.5:c.116G>T, NM_031905.4:c.116G>T, NM_001161009.3:c.116G>T, NM_001161009.2:c.116G>T, NM_001161011.3:c.116G>T, NM_001161011.2:c.116G>T, NM_001161010.3:c.116G>T, NM_001161010.2:c.116G>T, NM_001161012.3:c.116G>T, NM_001161012.2:c.116G>T, NM_001161013.3:c.116G>T, NM_001161013.2:c.116G>T, XM_011516601.4:c.116G>T, XM_011516601.3:c.116G>T, XM_011516601.2:c.116G>T, XM_011516601.1:c.116G>T, XM_005250628.4:c.116G>T, XM_005250628.3:c.116G>T, XM_005250628.2:c.116G>T, XM_005250628.1:c.116G>T, XM_017012689.3:c.116G>T, XM_017012689.2:c.116G>T, XM_017012689.1:c.116G>T, XM_017012684.3:c.116G>T, XM_017012684.2:c.116G>T, XM_017012684.1:c.116G>T, XM_017012685.3:c.116G>T, XM_017012685.2:c.116G>T, XM_017012685.1:c.116G>T, XM_017012688.3:c.116G>T, XM_017012688.2:c.116G>T, XM_017012688.1:c.116G>T, XM_047420918.1:c.116G>T, XM_047420912.1:c.116G>T, XM_047420913.1:c.116G>T, XM_047420914.1:c.116G>T, XM_047420915.1:c.116G>T, XM_047420916.1:c.116G>T, XM_047420917.1:c.116G>T, NP_114111.2:p.Gly39Val, NP_001154481.1:p.Gly39Val, NP_001154483.1:p.Gly39Val, NP_001154482.1:p.Gly39Val, NP_001154484.1:p.Gly39Val, NP_001154485.1:p.Gly39Val, XP_011514903.1:p.Gly39Val, XP_005250685.1:p.Gly39Val, XP_016868178.1:p.Gly39Val, XP_016868173.1:p.Gly39Val, XP_016868174.1:p.Gly39Val, XP_016868177.1:p.Gly39Val, XP_047276874.1:p.Gly39Val, XP_047276868.1:p.Gly39Val, XP_047276869.1:p.Gly39Val, XP_047276870.1:p.Gly39Val, XP_047276871.1:p.Gly39Val, XP_047276872.1:p.Gly39Val, XP_047276873.1:p.Gly39Val

                                16.

                                rs1445997866 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  7:103086639 (GRCh38)
                                  7:102727086 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:103086638:C:
                                  Gene:
                                  ARMC10 (Varview)
                                  Functional Consequence:
                                  frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000007.14:g.103086639del, NC_000007.13:g.102727086del, NG_030014.1:g.16759del, NM_031905.5:c.403del, NM_031905.4:c.403del, NM_001161009.3:c.298del, NM_001161009.2:c.298del, NM_001161011.3:c.298del, NM_001161011.2:c.298del, NM_001161010.3:c.403del, NM_001161010.2:c.403del, NM_001161012.3:c.298del, NM_001161012.2:c.298del, NM_001161013.3:c.298del, NM_001161013.2:c.298del, NT_187559.1:g.158090del, XM_011516601.4:c.322del, XM_011516601.3:c.322del, XM_011516601.2:c.322del, XM_011516601.1:c.322del, XM_017012689.3:c.*2496del, XM_017012684.3:c.430del, XM_017012684.2:c.430del, XM_017012684.1:c.430del, XM_017012685.3:c.430del, XM_017012685.2:c.430del, XM_017012685.1:c.430del, XM_017012688.3:c.430del, XM_017012688.2:c.430del, XM_017012688.1:c.430del, XM_005250628.4:c.403del, XM_005250628.3:c.403del, XM_005250628.2:c.403del, XM_005250628.1:c.403del, XM_047420918.1:c.430del, XM_047420913.1:c.496del, XM_047420914.1:c.517del, XM_047420915.1:c.517del, XM_047420916.1:c.403del, XM_047420917.1:c.496del, XM_047420912.1:c.517del, NP_114111.2:p.Arg135fs, NP_001154481.1:p.Arg100fs, NP_001154483.1:p.Arg100fs, NP_001154482.1:p.Arg135fs, NP_001154484.1:p.Arg100fs, NP_001154485.1:p.Arg100fs, XP_011514903.1:p.Arg108fs, XP_016868173.1:p.Arg144fs, XP_016868174.1:p.Arg144fs, XP_016868177.1:p.Arg144fs, XP_005250685.1:p.Arg135fs, XP_047276874.1:p.Arg144fs, XP_047276869.1:p.Arg166fs, XP_047276870.1:p.Arg173fs, XP_047276871.1:p.Arg173fs, XP_047276872.1:p.Arg135fs, XP_047276873.1:p.Arg166fs, XP_047276868.1:p.Arg173fs

                                  17.

                                  rs1442132668 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    7:103081892 (GRCh38)
                                    7:102722339 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:103081891:T:C,NC_000007.14:103081891:T:G
                                    Gene:
                                    ARMC10 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.103081892T>C, NC_000007.14:g.103081892T>G, NC_000007.13:g.102722339T>C, NC_000007.13:g.102722339T>G, NG_030014.1:g.12012T>C, NG_030014.1:g.12012T>G, XM_017012689.3:c.255T>C, XM_017012689.3:c.255T>G, XM_017012689.2:c.255T>C, XM_017012689.2:c.255T>G, XM_017012689.1:c.255T>C, XM_017012689.1:c.255T>G, XM_017012684.3:c.255T>C, XM_017012684.3:c.255T>G, XM_017012684.2:c.255T>C, XM_017012684.2:c.255T>G, XM_017012684.1:c.255T>C, XM_017012684.1:c.255T>G, XM_017012685.3:c.255T>C, XM_017012685.3:c.255T>G, XM_017012685.2:c.255T>C, XM_017012685.2:c.255T>G, XM_017012685.1:c.255T>C, XM_017012685.1:c.255T>G, XM_017012688.3:c.255T>C, XM_017012688.3:c.255T>G, XM_017012688.2:c.255T>C, XM_017012688.2:c.255T>G, XM_017012688.1:c.255T>C, XM_017012688.1:c.255T>G, XM_047420918.1:c.255T>C, XM_047420918.1:c.255T>G

                                    18.

                                    rs1441307459 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      7:103086658 (GRCh38)
                                      7:102727105 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:103086657:C:G
                                      Gene:
                                      ARMC10 (Varview)
                                      Functional Consequence:
                                      missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.103086658C>G, NC_000007.13:g.102727105C>G, NG_030014.1:g.16778C>G, NM_031905.5:c.422C>G, NM_031905.4:c.422C>G, NM_001161009.3:c.317C>G, NM_001161009.2:c.317C>G, NM_001161011.3:c.317C>G, NM_001161011.2:c.317C>G, NM_001161010.3:c.422C>G, NM_001161010.2:c.422C>G, NM_001161012.3:c.317C>G, NM_001161012.2:c.317C>G, NM_001161013.3:c.317C>G, NM_001161013.2:c.317C>G, NT_187559.1:g.158071G>C, XM_011516601.4:c.341C>G, XM_011516601.3:c.341C>G, XM_011516601.2:c.341C>G, XM_011516601.1:c.341C>G, XM_017012689.3:c.*2515C>G, XM_017012684.3:c.449C>G, XM_017012684.2:c.449C>G, XM_017012684.1:c.449C>G, XM_017012685.3:c.449C>G, XM_017012685.2:c.449C>G, XM_017012685.1:c.449C>G, XM_017012688.3:c.449C>G, XM_017012688.2:c.449C>G, XM_017012688.1:c.449C>G, XM_005250628.4:c.422C>G, XM_005250628.3:c.422C>G, XM_005250628.2:c.422C>G, XM_005250628.1:c.422C>G, XM_047420918.1:c.449C>G, XM_047420913.1:c.515C>G, XM_047420914.1:c.536C>G, XM_047420915.1:c.536C>G, XM_047420916.1:c.422C>G, XM_047420917.1:c.515C>G, XM_047420912.1:c.536C>G, NP_114111.2:p.Pro141Arg, NP_001154481.1:p.Pro106Arg, NP_001154483.1:p.Pro106Arg, NP_001154482.1:p.Pro141Arg, NP_001154484.1:p.Pro106Arg, NP_001154485.1:p.Pro106Arg, XP_011514903.1:p.Pro114Arg, XP_016868173.1:p.Pro150Arg, XP_016868174.1:p.Pro150Arg, XP_016868177.1:p.Pro150Arg, XP_005250685.1:p.Pro141Arg, XP_047276874.1:p.Pro150Arg, XP_047276869.1:p.Pro172Arg, XP_047276870.1:p.Pro179Arg, XP_047276871.1:p.Pro179Arg, XP_047276872.1:p.Pro141Arg, XP_047276873.1:p.Pro172Arg, XP_047276868.1:p.Pro179Arg

                                      19.

                                      rs1434319998 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:103086885 (GRCh38)
                                        7:102727332 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:103086884:G:A
                                        Gene:
                                        ARMC10 (Varview)
                                        Functional Consequence:
                                        missense_variant,downstream_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1427688725 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          7:103075815 (GRCh38)
                                          7:102716262 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:103075814:G:A,NC_000007.14:103075814:G:C
                                          Gene:
                                          ARMC10 (Varview), FBXL13 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
                                          HGVS:
                                          NC_000007.14:g.103075815G>A, NC_000007.14:g.103075815G>C, NC_000007.13:g.102716262G>A, NC_000007.13:g.102716262G>C, NG_030014.1:g.5935G>A, NG_030014.1:g.5935G>C, NM_031905.5:c.178G>A, NM_031905.5:c.178G>C, NM_031905.4:c.178G>A, NM_031905.4:c.178G>C, NM_001161010.3:c.178G>A, NM_001161010.3:c.178G>C, NM_001161010.2:c.178G>A, NM_001161010.2:c.178G>C, XM_005250628.4:c.178G>A, XM_005250628.4:c.178G>C, XM_005250628.3:c.178G>A, XM_005250628.3:c.178G>C, XM_005250628.2:c.178G>A, XM_005250628.2:c.178G>C, XM_005250628.1:c.178G>A, XM_005250628.1:c.178G>C, XM_017012689.3:c.178G>A, XM_017012689.3:c.178G>C, XM_017012689.2:c.178G>A, XM_017012689.2:c.178G>C, XM_017012689.1:c.178G>A, XM_017012689.1:c.178G>C, XM_017012684.3:c.178G>A, XM_017012684.3:c.178G>C, XM_017012684.2:c.178G>A, XM_017012684.2:c.178G>C, XM_017012684.1:c.178G>A, XM_017012684.1:c.178G>C, XM_017012685.3:c.178G>A, XM_017012685.3:c.178G>C, XM_017012685.2:c.178G>A, XM_017012685.2:c.178G>C, XM_017012685.1:c.178G>A, XM_017012685.1:c.178G>C, XM_017012688.3:c.178G>A, XM_017012688.3:c.178G>C, XM_017012688.2:c.178G>A, XM_017012688.2:c.178G>C, XM_017012688.1:c.178G>A, XM_017012688.1:c.178G>C, XM_047420918.1:c.178G>A, XM_047420918.1:c.178G>C, XM_047420912.1:c.178G>A, XM_047420912.1:c.178G>C, XM_047420913.1:c.178G>A, XM_047420913.1:c.178G>C, XM_047420914.1:c.178G>A, XM_047420914.1:c.178G>C, XM_047420915.1:c.178G>A, XM_047420915.1:c.178G>C, XM_047420916.1:c.178G>A, XM_047420916.1:c.178G>C, XM_047420917.1:c.178G>A, XM_047420917.1:c.178G>C, NP_114111.2:p.Gly60Arg, NP_114111.2:p.Gly60Arg, NP_001154482.1:p.Gly60Arg, NP_001154482.1:p.Gly60Arg, XP_005250685.1:p.Gly60Arg, XP_005250685.1:p.Gly60Arg, XP_016868178.1:p.Gly60Arg, XP_016868178.1:p.Gly60Arg, XP_016868173.1:p.Gly60Arg, XP_016868173.1:p.Gly60Arg, XP_016868174.1:p.Gly60Arg, XP_016868174.1:p.Gly60Arg, XP_016868177.1:p.Gly60Arg, XP_016868177.1:p.Gly60Arg, XP_047276874.1:p.Gly60Arg, XP_047276874.1:p.Gly60Arg, XP_047276868.1:p.Gly60Arg, XP_047276868.1:p.Gly60Arg, XP_047276869.1:p.Gly60Arg, XP_047276869.1:p.Gly60Arg, XP_047276870.1:p.Gly60Arg, XP_047276870.1:p.Gly60Arg, XP_047276871.1:p.Gly60Arg, XP_047276871.1:p.Gly60Arg, XP_047276872.1:p.Gly60Arg, XP_047276872.1:p.Gly60Arg, XP_047276873.1:p.Gly60Arg, XP_047276873.1:p.Gly60Arg

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