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Items: 1 to 20 of 432

1.

rs1490013555 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    1:44724168 (GRCh38)
    1:45189840 (GRCh37)
    Canonical SPDI:
    NC_000001.11:44724167:G:A,NC_000001.11:44724167:G:T
    Gene:
    ARMH1 (Varview), LOC105378690 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000019/5 (TOPMED)
    HGVS:
    NC_000001.11:g.44724168G>A, NC_000001.11:g.44724168G>T, NC_000001.10:g.45189840G>A, NC_000001.10:g.45189840G>T, XM_006710603.3:c.771G>A, XM_006710603.3:c.771G>T, XM_006710603.2:c.771G>A, XM_006710603.2:c.771G>T, XM_006710603.1:c.771G>A, XM_006710603.1:c.771G>T, XM_006710604.3:c.771G>A, XM_006710604.3:c.771G>T, XM_006710604.2:c.771G>A, XM_006710604.2:c.771G>T, XM_006710604.1:c.771G>A, XM_006710604.1:c.771G>T, XM_011541349.3:c.561G>A, XM_011541349.3:c.561G>T, XM_011541349.2:c.561G>A, XM_011541349.2:c.561G>T, XM_011541349.1:c.561G>A, XM_011541349.1:c.561G>T, XM_011541340.2:c.771G>A, XM_011541340.2:c.771G>T, XM_011541340.1:c.771G>A, XM_011541340.1:c.771G>T, XM_011541345.2:c.732G>A, XM_011541345.2:c.732G>T, XM_011541345.1:c.732G>A, XM_011541345.1:c.732G>T, XR_001738032.2:n.661C>T, XR_001738032.2:n.661C>A, XM_011541343.2:c.771G>A, XM_011541343.2:c.771G>T, XM_011541343.1:c.771G>A, XM_011541343.1:c.771G>T, XR_001737140.2:n.953G>A, XR_001737140.2:n.953G>T, XR_001737140.1:n.961G>A, XR_001737140.1:n.961G>T, XR_001737141.2:n.953G>A, XR_001737141.2:n.953G>T, XR_001737141.1:n.961G>A, XR_001737141.1:n.961G>T, XM_011541341.2:c.771G>A, XM_011541341.2:c.771G>T, XM_011541341.1:c.771G>A, XM_011541341.1:c.771G>T, NM_001145636.2:c.771G>A, NM_001145636.2:c.771G>T, NM_001145636.1:c.771G>A, NM_001145636.1:c.771G>T, XM_017001142.2:c.771G>A, XM_017001142.2:c.771G>T, XM_017001142.1:c.771G>A, XM_017001142.1:c.771G>T, XM_017001143.2:c.771G>A, XM_017001143.2:c.771G>T, XM_017001143.1:c.771G>A, XM_017001143.1:c.771G>T, XM_017001144.2:c.771G>A, XM_017001144.2:c.771G>T, XM_017001144.1:c.771G>A, XM_017001144.1:c.771G>T, NM_001004307.1:c.771G>A, NM_001004307.1:c.771G>T, XM_047419337.1:c.771G>A, XM_047419337.1:c.771G>T, XM_047419352.1:c.771G>A, XM_047419352.1:c.771G>T, XM_047419358.1:c.771G>A, XM_047419358.1:c.771G>T, XM_047419353.1:c.771G>A, XM_047419353.1:c.771G>T, XR_007059336.1:n.953G>A, XR_007059336.1:n.953G>T, XM_047419370.1:c.771G>A, XM_047419370.1:c.771G>T, XM_047419362.1:c.771G>A, XM_047419362.1:c.771G>T, XM_047419380.1:c.72G>A, XM_047419380.1:c.72G>T, XM_047419367.1:c.771G>A, XM_047419367.1:c.771G>T, XM_047419369.1:c.771G>A, XM_047419369.1:c.771G>T, XM_047419371.1:c.771G>A, XM_047419371.1:c.771G>T

    2.

    rs1489884646 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:44724801 (GRCh38)
      1:45190473 (GRCh37)
      Canonical SPDI:
      NC_000001.11:44724800:C:T
      Gene:
      ARMH1 (Varview), LOC105378690 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.44724801C>T, NC_000001.10:g.45190473C>T, XM_006710603.3:c.1108C>T, XM_006710603.2:c.1108C>T, XM_006710603.1:c.1108C>T, XM_006710604.3:c.1108C>T, XM_006710604.2:c.1108C>T, XM_006710604.1:c.1108C>T, XM_011541349.3:c.898C>T, XM_011541349.2:c.898C>T, XM_011541349.1:c.898C>T, XM_011541340.2:c.1108C>T, XM_011541340.1:c.1108C>T, XM_011541345.2:c.1069C>T, XM_011541345.1:c.1069C>T, XR_001738032.2:n.28G>A, XM_011541343.2:c.1108C>T, XM_011541343.1:c.1108C>T, XR_001737140.2:n.1273C>T, XR_001737140.1:n.1281C>T, XR_001737141.2:n.1255C>T, XR_001737141.1:n.1263C>T, XM_011541341.2:c.1108C>T, XM_011541341.1:c.1108C>T, NM_001145636.2:c.1090C>T, NM_001145636.1:c.1090C>T, XM_017001142.2:c.943C>T, XM_017001142.1:c.943C>T, NM_001004307.1:c.*300C>T, XM_047419337.1:c.1108C>T, XM_047419352.1:c.960C>T, XM_047419353.1:c.1108C>T, XM_047419370.1:c.960C>T, XM_047419362.1:c.1091C>T, XM_047419380.1:c.409C>T, XM_047419367.1:c.943C>T, XM_047419371.1:c.960C>T, XP_006710666.1:p.Arg370Cys, XP_006710667.1:p.Arg370Cys, XP_011539651.1:p.Arg300Cys, XP_011539642.1:p.Arg370Cys, XP_011539647.1:p.Arg357Cys, XP_011539645.1:p.Arg370Cys, XP_011539643.1:p.Arg370Cys, NP_001139108.1:p.Arg364Cys, XP_016856631.1:p.Arg315Cys, XP_047275293.1:p.Arg370Cys, XP_047275309.1:p.Arg370Cys, XP_047275318.1:p.Ala364Val, XP_047275336.1:p.Arg137Cys, XP_047275323.1:p.Arg315Cys

      3.

      rs1489026482 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:44724534 (GRCh38)
        1:45190206 (GRCh37)
        Canonical SPDI:
        NC_000001.11:44724533:C:T
        Gene:
        ARMH1 (Varview), LOC105378690 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
        HGVS:
        NC_000001.11:g.44724534C>T, NC_000001.10:g.45190206C>T, XM_006710603.3:c.934C>T, XM_006710603.2:c.934C>T, XM_006710603.1:c.934C>T, XM_006710604.3:c.934C>T, XM_006710604.2:c.934C>T, XM_006710604.1:c.934C>T, XM_011541349.3:c.724C>T, XM_011541349.2:c.724C>T, XM_011541349.1:c.724C>T, XM_011541340.2:c.934C>T, XM_011541340.1:c.934C>T, XM_011541345.2:c.895C>T, XM_011541345.1:c.895C>T, XR_001738032.2:n.295G>A, XM_011541343.2:c.934C>T, XM_011541343.1:c.934C>T, XR_001737140.2:n.1099C>T, XR_001737140.1:n.1107C>T, XM_011541341.2:c.934C>T, XM_011541341.1:c.934C>T, NM_001004307.1:c.*138C>T, XM_047419337.1:c.934C>T, XM_047419353.1:c.934C>T, XM_047419362.1:c.917C>T, XM_047419380.1:c.235C>T, XP_006710666.1:p.Pro312Ser, XP_006710667.1:p.Pro312Ser, XP_011539651.1:p.Pro242Ser, XP_011539642.1:p.Pro312Ser, XP_011539647.1:p.Pro299Ser, XP_011539645.1:p.Pro312Ser, XP_011539643.1:p.Pro312Ser, XP_047275293.1:p.Pro312Ser, XP_047275309.1:p.Pro312Ser, XP_047275318.1:p.Ala306Val, XP_047275336.1:p.Pro79Ser

        4.

        rs1488587244 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          A>- [Show Flanks]
          Chromosome:
          1:44700980 (GRCh38)
          1:45166652 (GRCh37)
          Canonical SPDI:
          NC_000001.11:44700979:AA:A
          Gene:
          ARMH1 (Varview), LOC105378690 (Varview)
          Functional Consequence:
          frameshift_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AA=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.44700981del, NC_000001.10:g.45166653del, XR_947286.4:n.655del, XR_947286.3:n.655del, XM_006710603.3:c.501del, XM_006710603.2:c.501del, XM_006710603.1:c.501del, XM_006710604.3:c.501del, XM_006710604.2:c.501del, XM_006710604.1:c.501del, XM_011541349.3:c.291del, XM_011541349.2:c.291del, XM_011541349.1:c.291del, XM_017001146.3:c.501del, XM_017001146.2:c.501del, XM_017001146.1:c.501del, XM_017001147.2:c.501del, XM_017001147.1:c.501del, XM_011541340.2:c.501del, XM_011541340.1:c.501del, XM_011541345.2:c.462del, XM_011541345.1:c.462del, XR_001738032.2:n.1570del, XM_011541343.2:c.501del, XM_011541343.1:c.501del, XR_001737140.2:n.683del, XR_001737140.1:n.691del, XR_001737141.2:n.683del, XR_001737141.1:n.691del, XM_011541341.2:c.501del, XM_011541341.1:c.501del, NM_001145636.2:c.501del, NM_001145636.1:c.501del, XM_017001145.2:c.501del, XM_017001145.1:c.501del, XM_017001142.2:c.501del, XM_017001142.1:c.501del, XM_017001143.2:c.501del, XM_017001143.1:c.501del, XM_017001144.2:c.501del, XM_017001144.1:c.501del, NM_001004307.1:c.501del, XM_047419337.1:c.501del, XM_047419352.1:c.501del, XM_047419358.1:c.501del, XM_047419353.1:c.501del, XR_007059336.1:n.683del, XM_047419370.1:c.501del, XM_047419362.1:c.501del, XM_047419380.1:c.-199del, XM_047419367.1:c.501del, XR_007066058.1:n.969del, XM_047419369.1:c.501del, XM_047419371.1:c.501del, XP_006710666.1:p.Val168fs, XP_006710667.1:p.Val168fs, XP_011539651.1:p.Val98fs, XP_016856635.1:p.Val168fs, XP_016856636.1:p.Val168fs, XP_011539642.1:p.Val168fs, XP_011539647.1:p.Val155fs, XP_011539645.1:p.Val168fs, XP_011539643.1:p.Val168fs, NP_001139108.1:p.Val168fs, XP_016856634.1:p.Val168fs, XP_016856631.1:p.Val168fs, XP_016856632.1:p.Val168fs, XP_016856633.1:p.Val168fs, XP_047275293.1:p.Val168fs, XP_047275308.1:p.Val168fs, XP_047275314.1:p.Val168fs, XP_047275309.1:p.Val168fs, XP_047275326.1:p.Val168fs, XP_047275318.1:p.Val168fs, XP_047275323.1:p.Val168fs, XP_047275325.1:p.Val168fs, XP_047275327.1:p.Val168fs

          5.

          rs1487298645 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:44725350 (GRCh38)
            1:45191022 (GRCh37)
            Canonical SPDI:
            NC_000001.11:44725349:G:A
            Gene:
            ARMH1 (Varview), LOC105378690 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.00007/1 (ALFA)
            HGVS:
            NC_000001.11:g.44725350G>A, NC_000001.10:g.45191022G>A, XM_006710603.3:c.1288G>A, XM_006710603.2:c.1288G>A, XM_006710603.1:c.1288G>A, XM_006710604.3:c.1288G>A, XM_006710604.2:c.1288G>A, XM_006710604.1:c.1288G>A, XM_011541349.3:c.1078G>A, XM_011541349.2:c.1078G>A, XM_011541349.1:c.1078G>A, XM_011541340.2:c.1288G>A, XM_011541340.1:c.1288G>A, XM_011541345.2:c.1249G>A, XM_011541345.1:c.1249G>A, XM_011541343.2:c.1288G>A, XM_011541343.1:c.1288G>A, XR_001737140.2:n.1556G>A, XR_001737140.1:n.1564G>A, XR_001737141.2:n.1538G>A, XR_001737141.1:n.1546G>A, XM_011541341.2:c.1288G>A, XM_011541341.1:c.1288G>A, NM_001145636.2:c.1270G>A, NM_001145636.1:c.1270G>A, XM_017001142.2:c.1123G>A, XM_017001142.1:c.1123G>A, XM_017001143.2:c.1045G>A, XM_017001143.1:c.1045G>A, NM_001004307.1:c.*776G>A, XM_047419337.1:c.1288G>A, XM_047419352.1:c.1243G>A, XM_047419358.1:c.1165G>A, XR_007059336.1:n.1244G>A, XM_047419380.1:c.589G>A, XP_006710666.1:p.Ala430Thr, XP_006710667.1:p.Ala430Thr, XP_011539651.1:p.Ala360Thr, XP_011539642.1:p.Ala430Thr, XP_011539647.1:p.Ala417Thr, XP_011539645.1:p.Ala430Thr, XP_011539643.1:p.Ala430Thr, NP_001139108.1:p.Ala424Thr, XP_016856631.1:p.Ala375Thr, XP_016856632.1:p.Ala349Thr, XP_047275293.1:p.Ala430Thr, XP_047275308.1:p.Ala415Thr, XP_047275314.1:p.Ala389Thr, XP_047275336.1:p.Ala197Thr

            6.

            rs1487068212 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:44701019 (GRCh38)
              1:45166691 (GRCh37)
              Canonical SPDI:
              NC_000001.11:44701018:C:T
              Gene:
              ARMH1 (Varview), LOC105378690 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000056/2 (ALFA)
              T=0.000019/3 (GnomAD_exomes)
              T=0.00003/8 (TOPMED)
              HGVS:
              NC_000001.11:g.44701019C>T, NC_000001.10:g.45166691C>T, XR_947286.4:n.616G>A, XR_947286.3:n.616G>A, XM_006710603.3:c.539C>T, XM_006710603.2:c.539C>T, XM_006710603.1:c.539C>T, XM_006710604.3:c.539C>T, XM_006710604.2:c.539C>T, XM_006710604.1:c.539C>T, XM_011541349.3:c.329C>T, XM_011541349.2:c.329C>T, XM_011541349.1:c.329C>T, XM_017001146.3:c.539C>T, XM_017001146.2:c.539C>T, XM_017001146.1:c.539C>T, XM_017001147.2:c.539C>T, XM_017001147.1:c.539C>T, XM_011541340.2:c.539C>T, XM_011541340.1:c.539C>T, XM_011541345.2:c.500C>T, XM_011541345.1:c.500C>T, XR_001738032.2:n.1531G>A, XM_011541343.2:c.539C>T, XM_011541343.1:c.539C>T, XR_001737140.2:n.721C>T, XR_001737140.1:n.729C>T, XR_001737141.2:n.721C>T, XR_001737141.1:n.729C>T, XM_011541341.2:c.539C>T, XM_011541341.1:c.539C>T, NM_001145636.2:c.539C>T, NM_001145636.1:c.539C>T, XM_017001145.2:c.539C>T, XM_017001145.1:c.539C>T, XM_017001142.2:c.539C>T, XM_017001142.1:c.539C>T, XM_017001143.2:c.539C>T, XM_017001143.1:c.539C>T, XM_017001144.2:c.539C>T, XM_017001144.1:c.539C>T, NM_001004307.1:c.539C>T, XM_047419337.1:c.539C>T, XM_047419352.1:c.539C>T, XM_047419358.1:c.539C>T, XM_047419353.1:c.539C>T, XR_007059336.1:n.721C>T, XM_047419370.1:c.539C>T, XM_047419362.1:c.539C>T, XM_047419380.1:c.-161C>T, XM_047419367.1:c.539C>T, XR_007066058.1:n.930G>A, XM_047419369.1:c.539C>T, XM_047419371.1:c.539C>T, XP_006710666.1:p.Pro180Leu, XP_006710667.1:p.Pro180Leu, XP_011539651.1:p.Pro110Leu, XP_016856635.1:p.Pro180Leu, XP_016856636.1:p.Pro180Leu, XP_011539642.1:p.Pro180Leu, XP_011539647.1:p.Pro167Leu, XP_011539645.1:p.Pro180Leu, XP_011539643.1:p.Pro180Leu, NP_001139108.1:p.Pro180Leu, XP_016856634.1:p.Pro180Leu, XP_016856631.1:p.Pro180Leu, XP_016856632.1:p.Pro180Leu, XP_016856633.1:p.Pro180Leu, XP_047275293.1:p.Pro180Leu, XP_047275308.1:p.Pro180Leu, XP_047275314.1:p.Pro180Leu, XP_047275309.1:p.Pro180Leu, XP_047275326.1:p.Pro180Leu, XP_047275318.1:p.Pro180Leu, XP_047275323.1:p.Pro180Leu, XP_047275325.1:p.Pro180Leu, XP_047275327.1:p.Pro180Leu

              7.

              rs1487005931 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:44724544 (GRCh38)
                1:45190216 (GRCh37)
                Canonical SPDI:
                NC_000001.11:44724543:T:C
                Gene:
                ARMH1 (Varview), LOC105378690 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.44724544T>C, NC_000001.10:g.45190216T>C, XM_006710603.3:c.944T>C, XM_006710603.2:c.944T>C, XM_006710603.1:c.944T>C, XM_006710604.3:c.944T>C, XM_006710604.2:c.944T>C, XM_006710604.1:c.944T>C, XM_011541349.3:c.734T>C, XM_011541349.2:c.734T>C, XM_011541349.1:c.734T>C, XM_011541340.2:c.944T>C, XM_011541340.1:c.944T>C, XM_011541345.2:c.905T>C, XM_011541345.1:c.905T>C, XR_001738032.2:n.285A>G, XM_011541343.2:c.944T>C, XM_011541343.1:c.944T>C, XR_001737140.2:n.1109T>C, XR_001737140.1:n.1117T>C, XR_001737141.2:n.1091T>C, XR_001737141.1:n.1099T>C, XM_011541341.2:c.944T>C, XM_011541341.1:c.944T>C, NM_001145636.2:c.926T>C, NM_001145636.1:c.926T>C, NM_001004307.1:c.*148T>C, XM_047419337.1:c.944T>C, XM_047419353.1:c.944T>C, XM_047419362.1:c.927T>C, XM_047419380.1:c.245T>C, XP_006710666.1:p.Leu315Pro, XP_006710667.1:p.Leu315Pro, XP_011539651.1:p.Leu245Pro, XP_011539642.1:p.Leu315Pro, XP_011539647.1:p.Leu302Pro, XP_011539645.1:p.Leu315Pro, XP_011539643.1:p.Leu315Pro, NP_001139108.1:p.Leu309Pro, XP_047275293.1:p.Leu315Pro, XP_047275309.1:p.Leu315Pro, XP_047275336.1:p.Leu82Pro

                8.

                rs1485626371 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:44697157 (GRCh38)
                  1:45162829 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:44697156:T:C
                  Gene:
                  ARMH1 (Varview), LOC105378690 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.44697157T>C, NC_000001.10:g.45162829T>C, XM_006710603.3:c.262T>C, XM_006710603.2:c.262T>C, XM_006710603.1:c.262T>C, XM_006710604.3:c.262T>C, XM_006710604.2:c.262T>C, XM_006710604.1:c.262T>C, XM_011541349.3:c.52T>C, XM_011541349.2:c.52T>C, XM_011541349.1:c.52T>C, XM_017001146.3:c.262T>C, XM_017001146.2:c.262T>C, XM_017001146.1:c.262T>C, XM_017001147.2:c.262T>C, XM_017001147.1:c.262T>C, XM_011541340.2:c.262T>C, XM_011541340.1:c.262T>C, XM_011541345.2:c.223T>C, XM_011541345.1:c.223T>C, XM_011541343.2:c.262T>C, XM_011541343.1:c.262T>C, XR_001737140.2:n.444T>C, XR_001737140.1:n.452T>C, XR_001737141.2:n.444T>C, XR_001737141.1:n.452T>C, XM_011541341.2:c.262T>C, XM_011541341.1:c.262T>C, NM_001145636.2:c.262T>C, NM_001145636.1:c.262T>C, XM_017001145.2:c.262T>C, XM_017001145.1:c.262T>C, XM_017001142.2:c.262T>C, XM_017001142.1:c.262T>C, XM_017001143.2:c.262T>C, XM_017001143.1:c.262T>C, XM_017001144.2:c.262T>C, XM_017001144.1:c.262T>C, NM_001004307.1:c.262T>C, XM_047419337.1:c.262T>C, XM_047419352.1:c.262T>C, XM_047419358.1:c.262T>C, XM_047419353.1:c.262T>C, XR_007059336.1:n.444T>C, XM_047419370.1:c.262T>C, XM_047419362.1:c.262T>C, XM_047419367.1:c.262T>C, XM_047419369.1:c.262T>C, XM_047419371.1:c.262T>C, XP_006710666.1:p.Ser88Pro, XP_006710667.1:p.Ser88Pro, XP_011539651.1:p.Ser18Pro, XP_016856635.1:p.Ser88Pro, XP_016856636.1:p.Ser88Pro, XP_011539642.1:p.Ser88Pro, XP_011539647.1:p.Ser75Pro, XP_011539645.1:p.Ser88Pro, XP_011539643.1:p.Ser88Pro, NP_001139108.1:p.Ser88Pro, XP_016856634.1:p.Ser88Pro, XP_016856631.1:p.Ser88Pro, XP_016856632.1:p.Ser88Pro, XP_016856633.1:p.Ser88Pro, XP_047275293.1:p.Ser88Pro, XP_047275308.1:p.Ser88Pro, XP_047275314.1:p.Ser88Pro, XP_047275309.1:p.Ser88Pro, XP_047275326.1:p.Ser88Pro, XP_047275318.1:p.Ser88Pro, XP_047275323.1:p.Ser88Pro, XP_047275325.1:p.Ser88Pro, XP_047275327.1:p.Ser88Pro

                  9.

                  rs1484940555 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CCCCCGGCCCA>- [Show Flanks]
                    Chromosome:
                    1:44724527 (GRCh38)
                    1:45190199 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:44724525:ACCCCCGGCCCA:A
                    Gene:
                    ARMH1 (Varview), LOC105378690 (Varview)
                    Functional Consequence:
                    splice_acceptor_variant,intron_variant,frameshift_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.44724527_44724537del, NC_000001.10:g.45190199_45190209del, XM_006710603.3:c.927_937del, XM_006710603.2:c.927_937del, XM_006710603.1:c.927_937del, XM_006710604.3:c.927_937del, XM_006710604.2:c.927_937del, XM_006710604.1:c.927_937del, XM_011541349.3:c.717_727del, XM_011541349.2:c.717_727del, XM_011541349.1:c.717_727del, XM_011541340.2:c.927_937del, XM_011541340.1:c.927_937del, XM_011541345.2:c.888_898del, XM_011541345.1:c.888_898del, XR_001738032.2:n.293_303del, XM_011541343.2:c.927_937del, XM_011541343.1:c.927_937del, XR_001737140.2:n.1092_1102del, XR_001737140.1:n.1100_1110del, XM_011541341.2:c.927_937del, XM_011541341.1:c.927_937del, NM_001004307.1:c.*131_*141del, XM_047419337.1:c.927_937del, XM_047419353.1:c.927_937del, XM_047419362.1:c.910_920del, XM_047419380.1:c.228_238del, XP_006710666.1:p.Asn309fs, XP_006710667.1:p.Asn309fs, XP_011539651.1:p.Asn239fs, XP_011539642.1:p.Asn309fs, XP_011539647.1:p.Asn296fs, XP_011539645.1:p.Asn309fs, XP_011539643.1:p.Asn309fs, XP_047275293.1:p.Asn309fs, XP_047275309.1:p.Asn309fs, XP_047275318.1:p.Pro304fs, XP_047275336.1:p.Asn76fs

                    10.

                    rs1482631945 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      1:44701063 (GRCh38)
                      1:45166735 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:44701062:CCC:CC
                      Gene:
                      ARMH1 (Varview), LOC105378690 (Varview)
                      Functional Consequence:
                      intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                      HGVS:
                      NC_000001.11:g.44701065del, NC_000001.10:g.45166737del, XR_947286.4:n.572del, XR_947286.3:n.572del, XM_006710603.3:c.585del, XM_006710603.2:c.585del, XM_006710603.1:c.585del, XM_006710604.3:c.585del, XM_006710604.2:c.585del, XM_006710604.1:c.585del, XM_011541349.3:c.375del, XM_011541349.2:c.375del, XM_011541349.1:c.375del, XM_017001146.3:c.585del, XM_017001146.2:c.585del, XM_017001146.1:c.585del, XM_017001147.2:c.585del, XM_017001147.1:c.585del, XM_011541340.2:c.585del, XM_011541340.1:c.585del, XM_011541345.2:c.546del, XM_011541345.1:c.546del, XR_001738032.2:n.1487del, XM_011541343.2:c.585del, XM_011541343.1:c.585del, XR_001737140.2:n.767del, XR_001737140.1:n.775del, XR_001737141.2:n.767del, XR_001737141.1:n.775del, XM_011541341.2:c.585del, XM_011541341.1:c.585del, NM_001145636.2:c.585del, NM_001145636.1:c.585del, XM_017001145.2:c.585del, XM_017001145.1:c.585del, XM_017001142.2:c.585del, XM_017001142.1:c.585del, XM_017001143.2:c.585del, XM_017001143.1:c.585del, XM_017001144.2:c.585del, XM_017001144.1:c.585del, NM_001004307.1:c.585del, XM_047419337.1:c.585del, XM_047419352.1:c.585del, XM_047419358.1:c.585del, XM_047419353.1:c.585del, XR_007059336.1:n.767del, XM_047419370.1:c.585del, XM_047419362.1:c.585del, XM_047419380.1:c.-115del, XM_047419367.1:c.585del, XR_007066058.1:n.886del, XM_047419369.1:c.585del, XM_047419371.1:c.585del, XP_006710666.1:p.Cys196fs, XP_006710667.1:p.Cys196fs, XP_011539651.1:p.Cys126fs, XP_016856635.1:p.Cys196fs, XP_016856636.1:p.Cys196fs, XP_011539642.1:p.Cys196fs, XP_011539647.1:p.Cys183fs, XP_011539645.1:p.Cys196fs, XP_011539643.1:p.Cys196fs, NP_001139108.1:p.Cys196fs, XP_016856634.1:p.Cys196fs, XP_016856631.1:p.Cys196fs, XP_016856632.1:p.Cys196fs, XP_016856633.1:p.Cys196fs, XP_047275293.1:p.Cys196fs, XP_047275308.1:p.Cys196fs, XP_047275314.1:p.Cys196fs, XP_047275309.1:p.Cys196fs, XP_047275326.1:p.Cys196fs, XP_047275318.1:p.Cys196fs, XP_047275323.1:p.Cys196fs, XP_047275325.1:p.Cys196fs, XP_047275327.1:p.Cys196fs

                      11.

                      rs1481373444 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,T [Show Flanks]
                        Chromosome:
                        1:44704160 (GRCh38)
                        1:45169832 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:44704159:A:C,NC_000001.11:44704159:A:T
                        Gene:
                        ARMH1 (Varview), LOC105378690 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        C=0.000684/2 (KOREAN)
                        HGVS:
                        NC_000001.11:g.44704160A>C, NC_000001.11:g.44704160A>T, NC_000001.10:g.45169832A>C, NC_000001.10:g.45169832A>T, XM_006710603.3:c.711A>C, XM_006710603.3:c.711A>T, XM_006710603.2:c.711A>C, XM_006710603.2:c.711A>T, XM_006710603.1:c.711A>C, XM_006710603.1:c.711A>T, XM_006710604.3:c.711A>C, XM_006710604.3:c.711A>T, XM_006710604.2:c.711A>C, XM_006710604.2:c.711A>T, XM_006710604.1:c.711A>C, XM_006710604.1:c.711A>T, XM_011541349.3:c.501A>C, XM_011541349.3:c.501A>T, XM_011541349.2:c.501A>C, XM_011541349.2:c.501A>T, XM_011541349.1:c.501A>C, XM_011541349.1:c.501A>T, XM_017001146.3:c.711A>C, XM_017001146.3:c.711A>T, XM_017001146.2:c.711A>C, XM_017001146.2:c.711A>T, XM_017001146.1:c.711A>C, XM_017001146.1:c.711A>T, XM_017001147.2:c.711A>C, XM_017001147.2:c.711A>T, XM_017001147.1:c.711A>C, XM_017001147.1:c.711A>T, XM_011541340.2:c.711A>C, XM_011541340.2:c.711A>T, XM_011541340.1:c.711A>C, XM_011541340.1:c.711A>T, XM_011541345.2:c.672A>C, XM_011541345.2:c.672A>T, XM_011541345.1:c.672A>C, XM_011541345.1:c.672A>T, XM_011541343.2:c.711A>C, XM_011541343.2:c.711A>T, XM_011541343.1:c.711A>C, XM_011541343.1:c.711A>T, XR_001737140.2:n.893A>C, XR_001737140.2:n.893A>T, XR_001737140.1:n.901A>C, XR_001737140.1:n.901A>T, XR_001737141.2:n.893A>C, XR_001737141.2:n.893A>T, XR_001737141.1:n.901A>C, XR_001737141.1:n.901A>T, XM_011541341.2:c.711A>C, XM_011541341.2:c.711A>T, XM_011541341.1:c.711A>C, XM_011541341.1:c.711A>T, NM_001145636.2:c.711A>C, NM_001145636.2:c.711A>T, NM_001145636.1:c.711A>C, NM_001145636.1:c.711A>T, XM_017001145.2:c.711A>C, XM_017001145.2:c.711A>T, XM_017001145.1:c.711A>C, XM_017001145.1:c.711A>T, XM_017001142.2:c.711A>C, XM_017001142.2:c.711A>T, XM_017001142.1:c.711A>C, XM_017001142.1:c.711A>T, XM_017001143.2:c.711A>C, XM_017001143.2:c.711A>T, XM_017001143.1:c.711A>C, XM_017001143.1:c.711A>T, XM_017001144.2:c.711A>C, XM_017001144.2:c.711A>T, XM_017001144.1:c.711A>C, XM_017001144.1:c.711A>T, NM_001004307.1:c.711A>C, NM_001004307.1:c.711A>T, XM_047419337.1:c.711A>C, XM_047419337.1:c.711A>T, XM_047419352.1:c.711A>C, XM_047419352.1:c.711A>T, XM_047419358.1:c.711A>C, XM_047419358.1:c.711A>T, XM_047419353.1:c.711A>C, XM_047419353.1:c.711A>T, XR_007059336.1:n.893A>C, XR_007059336.1:n.893A>T, XM_047419370.1:c.711A>C, XM_047419370.1:c.711A>T, XM_047419362.1:c.711A>C, XM_047419362.1:c.711A>T, XM_047419380.1:c.12A>C, XM_047419380.1:c.12A>T, XM_047419367.1:c.711A>C, XM_047419367.1:c.711A>T, XM_047419369.1:c.711A>C, XM_047419369.1:c.711A>T, XM_047419371.1:c.711A>C, XM_047419371.1:c.711A>T, XP_006710666.1:p.Glu237Asp, XP_006710666.1:p.Glu237Asp, XP_006710667.1:p.Glu237Asp, XP_006710667.1:p.Glu237Asp, XP_011539651.1:p.Glu167Asp, XP_011539651.1:p.Glu167Asp, XP_016856635.1:p.Glu237Asp, XP_016856635.1:p.Glu237Asp, XP_016856636.1:p.Glu237Asp, XP_016856636.1:p.Glu237Asp, XP_011539642.1:p.Glu237Asp, XP_011539642.1:p.Glu237Asp, XP_011539647.1:p.Glu224Asp, XP_011539647.1:p.Glu224Asp, XP_011539645.1:p.Glu237Asp, XP_011539645.1:p.Glu237Asp, XP_011539643.1:p.Glu237Asp, XP_011539643.1:p.Glu237Asp, NP_001139108.1:p.Glu237Asp, NP_001139108.1:p.Glu237Asp, XP_016856634.1:p.Glu237Asp, XP_016856634.1:p.Glu237Asp, XP_016856631.1:p.Glu237Asp, XP_016856631.1:p.Glu237Asp, XP_016856632.1:p.Glu237Asp, XP_016856632.1:p.Glu237Asp, XP_016856633.1:p.Glu237Asp, XP_016856633.1:p.Glu237Asp, XP_047275293.1:p.Glu237Asp, XP_047275293.1:p.Glu237Asp, XP_047275308.1:p.Glu237Asp, XP_047275308.1:p.Glu237Asp, XP_047275314.1:p.Glu237Asp, XP_047275314.1:p.Glu237Asp, XP_047275309.1:p.Glu237Asp, XP_047275309.1:p.Glu237Asp, XP_047275326.1:p.Glu237Asp, XP_047275326.1:p.Glu237Asp, XP_047275318.1:p.Glu237Asp, XP_047275318.1:p.Glu237Asp, XP_047275336.1:p.Glu4Asp, XP_047275336.1:p.Glu4Asp, XP_047275323.1:p.Glu237Asp, XP_047275323.1:p.Glu237Asp, XP_047275325.1:p.Glu237Asp, XP_047275325.1:p.Glu237Asp, XP_047275327.1:p.Glu237Asp, XP_047275327.1:p.Glu237Asp

                        12.

                        rs1480169570 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:44725333 (GRCh38)
                          1:45191005 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:44725332:A:G
                          Gene:
                          ARMH1 (Varview), LOC105378690 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,downstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000011/3 (TOPMED)
                          G=0.000013/2 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.44725333A>G, NC_000001.10:g.45191005A>G, XM_006710603.3:c.1271A>G, XM_006710603.2:c.1271A>G, XM_006710603.1:c.1271A>G, XM_006710604.3:c.1271A>G, XM_006710604.2:c.1271A>G, XM_006710604.1:c.1271A>G, XM_011541349.3:c.1061A>G, XM_011541349.2:c.1061A>G, XM_011541349.1:c.1061A>G, XM_011541340.2:c.1271A>G, XM_011541340.1:c.1271A>G, XM_011541345.2:c.1232A>G, XM_011541345.1:c.1232A>G, XM_011541343.2:c.1271A>G, XM_011541343.1:c.1271A>G, XR_001737140.2:n.1539A>G, XR_001737140.1:n.1547A>G, XR_001737141.2:n.1521A>G, XR_001737141.1:n.1529A>G, XM_011541341.2:c.1271A>G, XM_011541341.1:c.1271A>G, NM_001145636.2:c.1253A>G, NM_001145636.1:c.1253A>G, XM_017001142.2:c.1106A>G, XM_017001142.1:c.1106A>G, XM_017001143.2:c.1028A>G, XM_017001143.1:c.1028A>G, NM_001004307.1:c.*759A>G, XM_047419337.1:c.1271A>G, XM_047419352.1:c.1226A>G, XM_047419358.1:c.1148A>G, XR_007059336.1:n.1227A>G, XM_047419380.1:c.572A>G, XP_006710666.1:p.Tyr424Cys, XP_006710667.1:p.Tyr424Cys, XP_011539651.1:p.Tyr354Cys, XP_011539642.1:p.Tyr424Cys, XP_011539647.1:p.Tyr411Cys, XP_011539645.1:p.Tyr424Cys, XP_011539643.1:p.Tyr424Cys, NP_001139108.1:p.Tyr418Cys, XP_016856631.1:p.Tyr369Cys, XP_016856632.1:p.Tyr343Cys, XP_047275293.1:p.Tyr424Cys, XP_047275308.1:p.Tyr409Cys, XP_047275314.1:p.Tyr383Cys, XP_047275336.1:p.Tyr191Cys

                          13.

                          rs1480061796 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:44724651 (GRCh38)
                            1:45190323 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:44724650:G:A
                            Gene:
                            ARMH1 (Varview), LOC105378690 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,missense_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.44724651G>A, NC_000001.10:g.45190323G>A, XM_006710603.3:c.1051G>A, XM_006710603.2:c.1051G>A, XM_006710603.1:c.1051G>A, XM_006710604.3:c.1051G>A, XM_006710604.2:c.1051G>A, XM_006710604.1:c.1051G>A, XM_011541349.3:c.841G>A, XM_011541349.2:c.841G>A, XM_011541349.1:c.841G>A, XM_011541340.2:c.1051G>A, XM_011541340.1:c.1051G>A, XM_011541345.2:c.1012G>A, XM_011541345.1:c.1012G>A, XR_001738032.2:n.178C>T, XM_011541343.2:c.1051G>A, XM_011541343.1:c.1051G>A, XR_001737140.2:n.1216G>A, XR_001737140.1:n.1224G>A, XR_001737141.2:n.1198G>A, XR_001737141.1:n.1206G>A, XM_011541341.2:c.1051G>A, XM_011541341.1:c.1051G>A, NM_001145636.2:c.1033G>A, NM_001145636.1:c.1033G>A, NM_001004307.1:c.*255G>A, XM_047419337.1:c.1051G>A, XM_047419353.1:c.1051G>A, XM_047419362.1:c.1034G>A, XM_047419380.1:c.352G>A, XP_006710666.1:p.Ala351Thr, XP_006710667.1:p.Ala351Thr, XP_011539651.1:p.Ala281Thr, XP_011539642.1:p.Ala351Thr, XP_011539647.1:p.Ala338Thr, XP_011539645.1:p.Ala351Thr, XP_011539643.1:p.Ala351Thr, NP_001139108.1:p.Ala345Thr, XP_047275293.1:p.Ala351Thr, XP_047275309.1:p.Ala351Thr, XP_047275318.1:p.Gly345Asp, XP_047275336.1:p.Ala118Thr

                            14.

                            rs1479059457 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:44725345 (GRCh38)
                              1:45191017 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:44725344:A:C
                              Gene:
                              ARMH1 (Varview), LOC105378690 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,downstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000013/2 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.44725345A>C, NC_000001.10:g.45191017A>C, XM_006710603.3:c.1283A>C, XM_006710603.2:c.1283A>C, XM_006710603.1:c.1283A>C, XM_006710604.3:c.1283A>C, XM_006710604.2:c.1283A>C, XM_006710604.1:c.1283A>C, XM_011541349.3:c.1073A>C, XM_011541349.2:c.1073A>C, XM_011541349.1:c.1073A>C, XM_011541340.2:c.1283A>C, XM_011541340.1:c.1283A>C, XM_011541345.2:c.1244A>C, XM_011541345.1:c.1244A>C, XM_011541343.2:c.1283A>C, XM_011541343.1:c.1283A>C, XR_001737140.2:n.1551A>C, XR_001737140.1:n.1559A>C, XR_001737141.2:n.1533A>C, XR_001737141.1:n.1541A>C, XM_011541341.2:c.1283A>C, XM_011541341.1:c.1283A>C, NM_001145636.2:c.1265A>C, NM_001145636.1:c.1265A>C, XM_017001142.2:c.1118A>C, XM_017001142.1:c.1118A>C, XM_017001143.2:c.1040A>C, XM_017001143.1:c.1040A>C, NM_001004307.1:c.*771A>C, XM_047419337.1:c.1283A>C, XM_047419352.1:c.1238A>C, XM_047419358.1:c.1160A>C, XR_007059336.1:n.1239A>C, XM_047419380.1:c.584A>C, XP_006710666.1:p.Asp428Ala, XP_006710667.1:p.Asp428Ala, XP_011539651.1:p.Asp358Ala, XP_011539642.1:p.Asp428Ala, XP_011539647.1:p.Asp415Ala, XP_011539645.1:p.Asp428Ala, XP_011539643.1:p.Asp428Ala, NP_001139108.1:p.Asp422Ala, XP_016856631.1:p.Asp373Ala, XP_016856632.1:p.Asp347Ala, XP_047275293.1:p.Asp428Ala, XP_047275308.1:p.Asp413Ala, XP_047275314.1:p.Asp387Ala, XP_047275336.1:p.Asp195Ala

                              15.

                              rs1478081643 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:44724821 (GRCh38)
                                1:45190493 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:44724820:A:G
                                Gene:
                                ARMH1 (Varview), LOC105378690 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,missense_variant,synonymous_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.44724821A>G, NC_000001.10:g.45190493A>G, XM_006710603.3:c.1128A>G, XM_006710603.2:c.1128A>G, XM_006710603.1:c.1128A>G, XM_006710604.3:c.1128A>G, XM_006710604.2:c.1128A>G, XM_006710604.1:c.1128A>G, XM_011541349.3:c.918A>G, XM_011541349.2:c.918A>G, XM_011541349.1:c.918A>G, XM_011541340.2:c.1128A>G, XM_011541340.1:c.1128A>G, XM_011541345.2:c.1089A>G, XM_011541345.1:c.1089A>G, XR_001738032.2:n.8T>C, XM_011541343.2:c.1128A>G, XM_011541343.1:c.1128A>G, XR_001737140.2:n.1293A>G, XR_001737140.1:n.1301A>G, XR_001737141.2:n.1275A>G, XR_001737141.1:n.1283A>G, XM_011541341.2:c.1128A>G, XM_011541341.1:c.1128A>G, NM_001145636.2:c.1110A>G, NM_001145636.1:c.1110A>G, XM_017001142.2:c.963A>G, XM_017001142.1:c.963A>G, NM_001004307.1:c.*320A>G, XM_047419337.1:c.1128A>G, XM_047419352.1:c.980A>G, XM_047419353.1:c.1128A>G, XM_047419370.1:c.980A>G, XM_047419362.1:c.1111A>G, XM_047419380.1:c.429A>G, XM_047419367.1:c.963A>G, XM_047419371.1:c.980A>G, XP_047275308.1:p.Asn327Ser, XP_047275326.1:p.Asn327Ser, XP_047275318.1:p.Thr371Ala, XP_047275327.1:p.Asn327Ser

                                16.

                                rs1477141430 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:44704142 (GRCh38)
                                  1:45169814 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:44704141:G:A
                                  Gene:
                                  ARMH1 (Varview), LOC105378690 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000028/1 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000013/2 (GnomAD_exomes)
                                  A=0.000071/1 (TOMMO)
                                  A=0.000342/1 (KOREAN)
                                  A=0.002729/5 (Korea1K)
                                  HGVS:
                                  NC_000001.11:g.44704142G>A, NC_000001.10:g.45169814G>A, XM_006710603.3:c.693G>A, XM_006710603.2:c.693G>A, XM_006710603.1:c.693G>A, XM_006710604.3:c.693G>A, XM_006710604.2:c.693G>A, XM_006710604.1:c.693G>A, XM_011541349.3:c.483G>A, XM_011541349.2:c.483G>A, XM_011541349.1:c.483G>A, XM_017001146.3:c.693G>A, XM_017001146.2:c.693G>A, XM_017001146.1:c.693G>A, XM_017001147.2:c.693G>A, XM_017001147.1:c.693G>A, XM_011541340.2:c.693G>A, XM_011541340.1:c.693G>A, XM_011541345.2:c.654G>A, XM_011541345.1:c.654G>A, XM_011541343.2:c.693G>A, XM_011541343.1:c.693G>A, XR_001737140.2:n.875G>A, XR_001737140.1:n.883G>A, XR_001737141.2:n.875G>A, XR_001737141.1:n.883G>A, XM_011541341.2:c.693G>A, XM_011541341.1:c.693G>A, NM_001145636.2:c.693G>A, NM_001145636.1:c.693G>A, XM_017001145.2:c.693G>A, XM_017001145.1:c.693G>A, XM_017001142.2:c.693G>A, XM_017001142.1:c.693G>A, XM_017001143.2:c.693G>A, XM_017001143.1:c.693G>A, XM_017001144.2:c.693G>A, XM_017001144.1:c.693G>A, NM_001004307.1:c.693G>A, XM_047419337.1:c.693G>A, XM_047419352.1:c.693G>A, XM_047419358.1:c.693G>A, XM_047419353.1:c.693G>A, XR_007059336.1:n.875G>A, XM_047419370.1:c.693G>A, XM_047419362.1:c.693G>A, XM_047419380.1:c.-7G>A, XM_047419367.1:c.693G>A, XM_047419369.1:c.693G>A, XM_047419371.1:c.693G>A

                                  17.

                                  rs1473828643 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:44725335 (GRCh38)
                                    1:45191007 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:44725334:G:A
                                    Gene:
                                    ARMH1 (Varview), LOC105378690 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.44725335G>A, NC_000001.10:g.45191007G>A, XM_006710603.3:c.1273G>A, XM_006710603.2:c.1273G>A, XM_006710603.1:c.1273G>A, XM_006710604.3:c.1273G>A, XM_006710604.2:c.1273G>A, XM_006710604.1:c.1273G>A, XM_011541349.3:c.1063G>A, XM_011541349.2:c.1063G>A, XM_011541349.1:c.1063G>A, XM_011541340.2:c.1273G>A, XM_011541340.1:c.1273G>A, XM_011541345.2:c.1234G>A, XM_011541345.1:c.1234G>A, XM_011541343.2:c.1273G>A, XM_011541343.1:c.1273G>A, XR_001737140.2:n.1541G>A, XR_001737140.1:n.1549G>A, XR_001737141.2:n.1523G>A, XR_001737141.1:n.1531G>A, XM_011541341.2:c.1273G>A, XM_011541341.1:c.1273G>A, NM_001145636.2:c.1255G>A, NM_001145636.1:c.1255G>A, XM_017001142.2:c.1108G>A, XM_017001142.1:c.1108G>A, XM_017001143.2:c.1030G>A, XM_017001143.1:c.1030G>A, NM_001004307.1:c.*761G>A, XM_047419337.1:c.1273G>A, XM_047419352.1:c.1228G>A, XM_047419358.1:c.1150G>A, XR_007059336.1:n.1229G>A, XM_047419380.1:c.574G>A, XP_006710666.1:p.Gly425Ser, XP_006710667.1:p.Gly425Ser, XP_011539651.1:p.Gly355Ser, XP_011539642.1:p.Gly425Ser, XP_011539647.1:p.Gly412Ser, XP_011539645.1:p.Gly425Ser, XP_011539643.1:p.Gly425Ser, NP_001139108.1:p.Gly419Ser, XP_016856631.1:p.Gly370Ser, XP_016856632.1:p.Gly344Ser, XP_047275293.1:p.Gly425Ser, XP_047275308.1:p.Gly410Ser, XP_047275314.1:p.Gly384Ser, XP_047275336.1:p.Gly192Ser

                                    18.

                                    rs1471719334 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:44724153 (GRCh38)
                                      1:45189825 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:44724152:C:T
                                      Gene:
                                      ARMH1 (Varview), LOC105378690 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000111/1 (ALFA)
                                      T=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.44724153C>T, NC_000001.10:g.45189825C>T, XM_006710603.3:c.756C>T, XM_006710603.2:c.756C>T, XM_006710603.1:c.756C>T, XM_006710604.3:c.756C>T, XM_006710604.2:c.756C>T, XM_006710604.1:c.756C>T, XM_011541349.3:c.546C>T, XM_011541349.2:c.546C>T, XM_011541349.1:c.546C>T, XM_011541340.2:c.756C>T, XM_011541340.1:c.756C>T, XM_011541345.2:c.717C>T, XM_011541345.1:c.717C>T, XR_001738032.2:n.676G>A, XM_011541343.2:c.756C>T, XM_011541343.1:c.756C>T, XR_001737140.2:n.938C>T, XR_001737140.1:n.946C>T, XR_001737141.2:n.938C>T, XR_001737141.1:n.946C>T, XM_011541341.2:c.756C>T, XM_011541341.1:c.756C>T, NM_001145636.2:c.756C>T, NM_001145636.1:c.756C>T, XM_017001142.2:c.756C>T, XM_017001142.1:c.756C>T, XM_017001143.2:c.756C>T, XM_017001143.1:c.756C>T, XM_017001144.2:c.756C>T, XM_017001144.1:c.756C>T, NM_001004307.1:c.756C>T, XM_047419337.1:c.756C>T, XM_047419352.1:c.756C>T, XM_047419358.1:c.756C>T, XM_047419353.1:c.756C>T, XR_007059336.1:n.938C>T, XM_047419370.1:c.756C>T, XM_047419362.1:c.756C>T, XM_047419380.1:c.57C>T, XM_047419367.1:c.756C>T, XM_047419369.1:c.756C>T, XM_047419371.1:c.756C>T

                                      19.

                                      rs1470807091 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:44689706 (GRCh38)
                                        1:45155378 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:44689705:T:C
                                        Gene:
                                        ARMH1 (Varview), LOC105378690 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000056/2 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000006/1 (GnomAD_exomes)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.44689706T>C, NC_000001.10:g.45155378T>C, XM_006710603.3:c.9T>C, XM_006710603.2:c.9T>C, XM_006710603.1:c.9T>C, XM_006710604.3:c.9T>C, XM_006710604.2:c.9T>C, XM_006710604.1:c.9T>C, XM_017001146.3:c.9T>C, XM_017001146.2:c.9T>C, XM_017001146.1:c.9T>C, XM_017001147.2:c.9T>C, XM_017001147.1:c.9T>C, XM_011541340.2:c.9T>C, XM_011541340.1:c.9T>C, XM_011541343.2:c.9T>C, XM_011541343.1:c.9T>C, XR_001737140.2:n.191T>C, XR_001737140.1:n.199T>C, XR_001737141.2:n.191T>C, XR_001737141.1:n.199T>C, XM_011541341.2:c.9T>C, XM_011541341.1:c.9T>C, NM_001145636.2:c.9T>C, NM_001145636.1:c.9T>C, XM_017001145.2:c.9T>C, XM_017001145.1:c.9T>C, XM_017001142.2:c.9T>C, XM_017001142.1:c.9T>C, XM_017001143.2:c.9T>C, XM_017001143.1:c.9T>C, XM_017001144.2:c.9T>C, XM_017001144.1:c.9T>C, NM_001004307.1:c.9T>C, XM_047419337.1:c.9T>C, XM_047419352.1:c.9T>C, XM_047419358.1:c.9T>C, XM_047419353.1:c.9T>C, XR_007059336.1:n.191T>C, XM_047419370.1:c.9T>C, XM_047419362.1:c.9T>C, XM_047419367.1:c.9T>C, XM_047419369.1:c.9T>C, XM_047419371.1:c.9T>C

                                        20.

                                        rs1470173431 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:44689830 (GRCh38)
                                          1:45155502 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:44689829:C:G
                                          Gene:
                                          ARMH1 (Varview), LOC105378690 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.44689830C>G, NC_000001.10:g.45155502C>G, XM_006710603.3:c.133C>G, XM_006710603.2:c.133C>G, XM_006710603.1:c.133C>G, XM_006710604.3:c.133C>G, XM_006710604.2:c.133C>G, XM_006710604.1:c.133C>G, XM_011541349.3:c.-78C>G, XM_011541349.2:c.-78C>G, XM_011541349.1:c.-78C>G, XM_017001146.3:c.133C>G, XM_017001146.2:c.133C>G, XM_017001146.1:c.133C>G, XM_017001147.2:c.133C>G, XM_017001147.1:c.133C>G, XM_011541340.2:c.133C>G, XM_011541340.1:c.133C>G, XM_011541345.2:c.94C>G, XM_011541345.1:c.94C>G, XM_011541343.2:c.133C>G, XM_011541343.1:c.133C>G, XR_001737140.2:n.315C>G, XR_001737140.1:n.323C>G, XR_001737141.2:n.315C>G, XR_001737141.1:n.323C>G, XM_011541341.2:c.133C>G, XM_011541341.1:c.133C>G, NM_001145636.2:c.133C>G, NM_001145636.1:c.133C>G, XM_017001145.2:c.133C>G, XM_017001145.1:c.133C>G, XM_017001142.2:c.133C>G, XM_017001142.1:c.133C>G, XM_017001143.2:c.133C>G, XM_017001143.1:c.133C>G, XM_017001144.2:c.133C>G, XM_017001144.1:c.133C>G, NM_001004307.1:c.133C>G, XM_047419337.1:c.133C>G, XM_047419352.1:c.133C>G, XM_047419358.1:c.133C>G, XM_047419353.1:c.133C>G, XR_007059336.1:n.315C>G, XM_047419370.1:c.133C>G, XM_047419362.1:c.133C>G, XM_047419380.1:c.-302C>G, XM_047419367.1:c.133C>G, XM_047419369.1:c.133C>G, XM_047419371.1:c.133C>G, XP_006710666.1:p.Pro45Ala, XP_006710667.1:p.Pro45Ala, XP_016856635.1:p.Pro45Ala, XP_016856636.1:p.Pro45Ala, XP_011539642.1:p.Pro45Ala, XP_011539647.1:p.Pro32Ala, XP_011539645.1:p.Pro45Ala, XP_011539643.1:p.Pro45Ala, NP_001139108.1:p.Pro45Ala, XP_016856634.1:p.Pro45Ala, XP_016856631.1:p.Pro45Ala, XP_016856632.1:p.Pro45Ala, XP_016856633.1:p.Pro45Ala, XP_047275293.1:p.Pro45Ala, XP_047275308.1:p.Pro45Ala, XP_047275314.1:p.Pro45Ala, XP_047275309.1:p.Pro45Ala, XP_047275326.1:p.Pro45Ala, XP_047275318.1:p.Pro45Ala, XP_047275323.1:p.Pro45Ala, XP_047275325.1:p.Pro45Ala, XP_047275327.1:p.Pro45Ala

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