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Items: 1 to 20 of 65

1.

rs1470841964 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    X:110171493 (GRCh38)
    X:109414721 (GRCh37)
    Canonical SPDI:
    NC_000023.11:110171492:C:G
    Gene:
    TMEM164 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000023.11:g.110171493C>G, NC_000023.10:g.109414721C>G, XM_005262208.6:c.354C>G, XM_005262208.5:c.354C>G, XM_005262208.4:c.354C>G, XM_005262208.3:c.354C>G, XM_005262208.2:c.354C>G, XM_005262208.1:c.354C>G, XM_005262205.5:c.660C>G, XM_005262205.4:c.660C>G, XM_005262205.3:c.660C>G, XM_005262205.2:c.660C>G, XM_005262205.1:c.660C>G, NM_032227.4:c.660C>G, NM_032227.3:c.660C>G, XM_017029894.3:c.303C>G, XM_017029894.2:c.303C>G, XM_017029894.1:c.303C>G, NM_017698.3:c.213C>G, NM_017698.2:c.213C>G, XM_011531055.3:c.213C>G, XM_011531055.2:c.213C>G, XM_011531055.1:c.213C>G, XM_017029897.2:c.273C>G, XM_017029897.1:c.273C>G, NM_001353851.2:c.279C>G, NM_001353851.1:c.279C>G, NM_001353849.2:c.660C>G, NM_001353849.1:c.660C>G, XM_017029899.2:c.279C>G, XM_017029899.1:c.279C>G, NM_001353850.2:c.279C>G, NM_001353850.1:c.279C>G, XM_047442569.1:c.279C>G, XM_047442571.1:c.213C>G, XM_047442570.1:c.279C>G, XM_047442573.1:c.162C>G, XM_047442568.1:c.354C>G, XM_047442572.1:c.213C>G, XM_047442565.1:c.660C>G, XM_047442566.1:c.543C>G, XM_047442567.1:c.543C>G, NM_001410717.1:c.543C>G, XP_005262265.1:p.His118Gln, XP_005262262.1:p.His220Gln, NP_115603.2:p.His220Gln, XP_016885383.1:p.His101Gln, NP_060168.2:p.His71Gln, XP_011529357.1:p.His71Gln, XP_016885386.1:p.His91Gln, NP_001340780.1:p.His93Gln, NP_001340778.1:p.His220Gln, XP_016885388.1:p.His93Gln, NP_001340779.1:p.His93Gln, XP_047298525.1:p.His93Gln, XP_047298527.1:p.His71Gln, XP_047298526.1:p.His93Gln, XP_047298529.1:p.His54Gln, XP_047298524.1:p.His118Gln, XP_047298528.1:p.His71Gln, XP_047298521.1:p.His220Gln, XP_047298522.1:p.His181Gln, XP_047298523.1:p.His181Gln

    2.

    rs1464025950 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:110171440 (GRCh38)
      X:109414668 (GRCh37)
      Canonical SPDI:
      NC_000023.11:110171439:C:T
      Gene:
      TMEM164 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000006/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.110171440C>T, NC_000023.10:g.109414668C>T, XM_005262208.6:c.301C>T, XM_005262208.5:c.301C>T, XM_005262208.4:c.301C>T, XM_005262208.3:c.301C>T, XM_005262208.2:c.301C>T, XM_005262208.1:c.301C>T, XM_005262205.5:c.607C>T, XM_005262205.4:c.607C>T, XM_005262205.3:c.607C>T, XM_005262205.2:c.607C>T, XM_005262205.1:c.607C>T, NM_032227.4:c.607C>T, NM_032227.3:c.607C>T, XM_017029894.3:c.250C>T, XM_017029894.2:c.250C>T, XM_017029894.1:c.250C>T, NM_017698.3:c.160C>T, NM_017698.2:c.160C>T, XM_011531055.3:c.160C>T, XM_011531055.2:c.160C>T, XM_011531055.1:c.160C>T, XM_017029897.2:c.220C>T, XM_017029897.1:c.220C>T, NM_001353851.2:c.226C>T, NM_001353851.1:c.226C>T, NM_001353849.2:c.607C>T, NM_001353849.1:c.607C>T, XM_017029899.2:c.226C>T, XM_017029899.1:c.226C>T, NM_001353850.2:c.226C>T, NM_001353850.1:c.226C>T, XM_047442569.1:c.226C>T, XM_047442571.1:c.160C>T, XM_047442570.1:c.226C>T, XM_047442573.1:c.109C>T, XM_047442568.1:c.301C>T, XM_047442572.1:c.160C>T, XM_047442565.1:c.607C>T, XM_047442566.1:c.490C>T, XM_047442567.1:c.490C>T, NM_001410717.1:c.490C>T, XP_005262265.1:p.Leu101Phe, XP_005262262.1:p.Leu203Phe, NP_115603.2:p.Leu203Phe, XP_016885383.1:p.Leu84Phe, NP_060168.2:p.Leu54Phe, XP_011529357.1:p.Leu54Phe, XP_016885386.1:p.Leu74Phe, NP_001340780.1:p.Leu76Phe, NP_001340778.1:p.Leu203Phe, XP_016885388.1:p.Leu76Phe, NP_001340779.1:p.Leu76Phe, XP_047298525.1:p.Leu76Phe, XP_047298527.1:p.Leu54Phe, XP_047298526.1:p.Leu76Phe, XP_047298529.1:p.Leu37Phe, XP_047298524.1:p.Leu101Phe, XP_047298528.1:p.Leu54Phe, XP_047298521.1:p.Leu203Phe, XP_047298522.1:p.Leu164Phe, XP_047298523.1:p.Leu164Phe

      3.

      rs1454087600 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:110109137 (GRCh38)
        X:109352365 (GRCh37)
        Canonical SPDI:
        NC_000023.11:110109136:C:T
        Gene:
        TMEM164 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0./0 (Vietnamese)
        T=0.000011/2 (GnomAD_exomes)
        HGVS:
        NC_000023.11:g.110109137C>T, NC_000023.10:g.109352365C>T, XM_005262208.6:c.192C>T, XM_005262208.5:c.192C>T, XM_005262208.4:c.192C>T, XM_005262208.3:c.192C>T, XM_005262208.2:c.192C>T, XM_005262208.1:c.192C>T, XM_005262205.5:c.498C>T, XM_005262205.4:c.498C>T, XM_005262205.3:c.498C>T, XM_005262205.2:c.498C>T, XM_005262205.1:c.498C>T, NM_032227.4:c.498C>T, NM_032227.3:c.498C>T, XM_017029894.3:c.141C>T, XM_017029894.2:c.141C>T, XM_017029894.1:c.141C>T, NM_017698.3:c.51C>T, NM_017698.2:c.51C>T, XM_011531055.3:c.51C>T, XM_011531055.2:c.51C>T, XM_011531055.1:c.51C>T, XM_017029897.2:c.111C>T, XM_017029897.1:c.111C>T, NM_001353851.2:c.117C>T, NM_001353851.1:c.117C>T, NM_001353849.2:c.498C>T, NM_001353849.1:c.498C>T, XM_017029899.2:c.117C>T, XM_017029899.1:c.117C>T, NM_001353850.2:c.117C>T, NM_001353850.1:c.117C>T, XM_047442569.1:c.117C>T, XM_047442571.1:c.51C>T, XM_047442570.1:c.117C>T, XM_047442568.1:c.192C>T, XM_047442572.1:c.51C>T, XM_047442565.1:c.498C>T

        4.

        rs1419455406 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:110144806 (GRCh38)
          X:109388034 (GRCh37)
          Canonical SPDI:
          NC_000023.11:110144805:T:C
          Gene:
          TMEM164 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000006/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.110144806T>C, NC_000023.10:g.109388034T>C, XM_005262208.6:c.210T>C, XM_005262208.5:c.210T>C, XM_005262208.4:c.210T>C, XM_005262208.3:c.210T>C, XM_005262208.2:c.210T>C, XM_005262208.1:c.210T>C, XM_005262205.5:c.516T>C, XM_005262205.4:c.516T>C, XM_005262205.3:c.516T>C, XM_005262205.2:c.516T>C, XM_005262205.1:c.516T>C, NM_032227.4:c.516T>C, NM_032227.3:c.516T>C, XM_017029894.3:c.159T>C, XM_017029894.2:c.159T>C, XM_017029894.1:c.159T>C, NM_017698.3:c.69T>C, NM_017698.2:c.69T>C, XM_011531055.3:c.69T>C, XM_011531055.2:c.69T>C, XM_011531055.1:c.69T>C, XM_017029897.2:c.129T>C, XM_017029897.1:c.129T>C, NM_001353851.2:c.135T>C, NM_001353851.1:c.135T>C, NM_001353849.2:c.516T>C, NM_001353849.1:c.516T>C, XM_017029899.2:c.135T>C, XM_017029899.1:c.135T>C, NM_001353850.2:c.135T>C, NM_001353850.1:c.135T>C, XM_047442569.1:c.135T>C, XM_047442571.1:c.69T>C, XM_047442570.1:c.135T>C, XM_047442573.1:c.18T>C, XM_047442568.1:c.210T>C, XM_047442572.1:c.69T>C, XM_047442565.1:c.516T>C, XM_047442566.1:c.399T>C, XM_047442567.1:c.399T>C, NM_001410717.1:c.399T>C

          5.

          rs1381845997 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:110171475 (GRCh38)
            X:109414703 (GRCh37)
            Canonical SPDI:
            NC_000023.11:110171474:C:T
            Gene:
            TMEM164 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.110171475C>T, NC_000023.10:g.109414703C>T, XM_005262208.6:c.336C>T, XM_005262208.5:c.336C>T, XM_005262208.4:c.336C>T, XM_005262208.3:c.336C>T, XM_005262208.2:c.336C>T, XM_005262208.1:c.336C>T, XM_005262205.5:c.642C>T, XM_005262205.4:c.642C>T, XM_005262205.3:c.642C>T, XM_005262205.2:c.642C>T, XM_005262205.1:c.642C>T, NM_032227.4:c.642C>T, NM_032227.3:c.642C>T, XM_017029894.3:c.285C>T, XM_017029894.2:c.285C>T, XM_017029894.1:c.285C>T, NM_017698.3:c.195C>T, NM_017698.2:c.195C>T, XM_011531055.3:c.195C>T, XM_011531055.2:c.195C>T, XM_011531055.1:c.195C>T, XM_017029897.2:c.255C>T, XM_017029897.1:c.255C>T, NM_001353851.2:c.261C>T, NM_001353851.1:c.261C>T, NM_001353849.2:c.642C>T, NM_001353849.1:c.642C>T, XM_017029899.2:c.261C>T, XM_017029899.1:c.261C>T, NM_001353850.2:c.261C>T, NM_001353850.1:c.261C>T, XM_047442569.1:c.261C>T, XM_047442571.1:c.195C>T, XM_047442570.1:c.261C>T, XM_047442573.1:c.144C>T, XM_047442568.1:c.336C>T, XM_047442572.1:c.195C>T, XM_047442565.1:c.642C>T, XM_047442566.1:c.525C>T, XM_047442567.1:c.525C>T, NM_001410717.1:c.525C>T

            6.

            rs1373140486 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              X:110171437 (GRCh38)
              X:109414665 (GRCh37)
              Canonical SPDI:
              NC_000023.11:110171436:C:G,NC_000023.11:110171436:C:T
              Gene:
              TMEM164 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.00004/1 (TOMMO)
              HGVS:
              NC_000023.11:g.110171437C>G, NC_000023.11:g.110171437C>T, NC_000023.10:g.109414665C>G, NC_000023.10:g.109414665C>T, XM_005262208.6:c.298C>G, XM_005262208.6:c.298C>T, XM_005262208.5:c.298C>G, XM_005262208.5:c.298C>T, XM_005262208.4:c.298C>G, XM_005262208.4:c.298C>T, XM_005262208.3:c.298C>G, XM_005262208.3:c.298C>T, XM_005262208.2:c.298C>G, XM_005262208.2:c.298C>T, XM_005262208.1:c.298C>G, XM_005262208.1:c.298C>T, XM_005262205.5:c.604C>G, XM_005262205.5:c.604C>T, XM_005262205.4:c.604C>G, XM_005262205.4:c.604C>T, XM_005262205.3:c.604C>G, XM_005262205.3:c.604C>T, XM_005262205.2:c.604C>G, XM_005262205.2:c.604C>T, XM_005262205.1:c.604C>G, XM_005262205.1:c.604C>T, NM_032227.4:c.604C>G, NM_032227.4:c.604C>T, NM_032227.3:c.604C>G, NM_032227.3:c.604C>T, XM_017029894.3:c.247C>G, XM_017029894.3:c.247C>T, XM_017029894.2:c.247C>G, XM_017029894.2:c.247C>T, XM_017029894.1:c.247C>G, XM_017029894.1:c.247C>T, NM_017698.3:c.157C>G, NM_017698.3:c.157C>T, NM_017698.2:c.157C>G, NM_017698.2:c.157C>T, XM_011531055.3:c.157C>G, XM_011531055.3:c.157C>T, XM_011531055.2:c.157C>G, XM_011531055.2:c.157C>T, XM_011531055.1:c.157C>G, XM_011531055.1:c.157C>T, XM_017029897.2:c.217C>G, XM_017029897.2:c.217C>T, XM_017029897.1:c.217C>G, XM_017029897.1:c.217C>T, NM_001353851.2:c.223C>G, NM_001353851.2:c.223C>T, NM_001353851.1:c.223C>G, NM_001353851.1:c.223C>T, NM_001353849.2:c.604C>G, NM_001353849.2:c.604C>T, NM_001353849.1:c.604C>G, NM_001353849.1:c.604C>T, XM_017029899.2:c.223C>G, XM_017029899.2:c.223C>T, XM_017029899.1:c.223C>G, XM_017029899.1:c.223C>T, NM_001353850.2:c.223C>G, NM_001353850.2:c.223C>T, NM_001353850.1:c.223C>G, NM_001353850.1:c.223C>T, XM_047442569.1:c.223C>G, XM_047442569.1:c.223C>T, XM_047442571.1:c.157C>G, XM_047442571.1:c.157C>T, XM_047442570.1:c.223C>G, XM_047442570.1:c.223C>T, XM_047442573.1:c.106C>G, XM_047442573.1:c.106C>T, XM_047442568.1:c.298C>G, XM_047442568.1:c.298C>T, XM_047442572.1:c.157C>G, XM_047442572.1:c.157C>T, XM_047442565.1:c.604C>G, XM_047442565.1:c.604C>T, XM_047442566.1:c.487C>G, XM_047442566.1:c.487C>T, XM_047442567.1:c.487C>G, XM_047442567.1:c.487C>T, NM_001410717.1:c.487C>G, NM_001410717.1:c.487C>T, XP_005262265.1:p.Pro100Ala, XP_005262265.1:p.Pro100Ser, XP_005262262.1:p.Pro202Ala, XP_005262262.1:p.Pro202Ser, NP_115603.2:p.Pro202Ala, NP_115603.2:p.Pro202Ser, XP_016885383.1:p.Pro83Ala, XP_016885383.1:p.Pro83Ser, NP_060168.2:p.Pro53Ala, NP_060168.2:p.Pro53Ser, XP_011529357.1:p.Pro53Ala, XP_011529357.1:p.Pro53Ser, XP_016885386.1:p.Pro73Ala, XP_016885386.1:p.Pro73Ser, NP_001340780.1:p.Pro75Ala, NP_001340780.1:p.Pro75Ser, NP_001340778.1:p.Pro202Ala, NP_001340778.1:p.Pro202Ser, XP_016885388.1:p.Pro75Ala, XP_016885388.1:p.Pro75Ser, NP_001340779.1:p.Pro75Ala, NP_001340779.1:p.Pro75Ser, XP_047298525.1:p.Pro75Ala, XP_047298525.1:p.Pro75Ser, XP_047298527.1:p.Pro53Ala, XP_047298527.1:p.Pro53Ser, XP_047298526.1:p.Pro75Ala, XP_047298526.1:p.Pro75Ser, XP_047298529.1:p.Pro36Ala, XP_047298529.1:p.Pro36Ser, XP_047298524.1:p.Pro100Ala, XP_047298524.1:p.Pro100Ser, XP_047298528.1:p.Pro53Ala, XP_047298528.1:p.Pro53Ser, XP_047298521.1:p.Pro202Ala, XP_047298521.1:p.Pro202Ser, XP_047298522.1:p.Pro163Ala, XP_047298522.1:p.Pro163Ser, XP_047298523.1:p.Pro163Ala, XP_047298523.1:p.Pro163Ser

              7.

              rs1361573842 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:110171503 (GRCh38)
                X:109414731 (GRCh37)
                Canonical SPDI:
                NC_000023.11:110171502:T:C
                Gene:
                TMEM164 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.00001/1 (GnomAD)
                HGVS:
                NC_000023.11:g.110171503T>C, NC_000023.10:g.109414731T>C, XM_005262208.6:c.364T>C, XM_005262208.5:c.364T>C, XM_005262208.4:c.364T>C, XM_005262208.3:c.364T>C, XM_005262208.2:c.364T>C, XM_005262208.1:c.364T>C, XM_005262205.5:c.670T>C, XM_005262205.4:c.670T>C, XM_005262205.3:c.670T>C, XM_005262205.2:c.670T>C, XM_005262205.1:c.670T>C, NM_032227.4:c.670T>C, NM_032227.3:c.670T>C, XM_017029894.3:c.313T>C, XM_017029894.2:c.313T>C, XM_017029894.1:c.313T>C, NM_017698.3:c.223T>C, NM_017698.2:c.223T>C, XM_011531055.3:c.223T>C, XM_011531055.2:c.223T>C, XM_011531055.1:c.223T>C, XM_017029897.2:c.283T>C, XM_017029897.1:c.283T>C, NM_001353851.2:c.289T>C, NM_001353851.1:c.289T>C, NM_001353849.2:c.670T>C, NM_001353849.1:c.670T>C, XM_017029899.2:c.289T>C, XM_017029899.1:c.289T>C, NM_001353850.2:c.289T>C, NM_001353850.1:c.289T>C, XM_047442569.1:c.289T>C, XM_047442571.1:c.223T>C, XM_047442570.1:c.289T>C, XM_047442573.1:c.172T>C, XM_047442568.1:c.364T>C, XM_047442572.1:c.223T>C, XM_047442565.1:c.670T>C, XM_047442566.1:c.553T>C, XM_047442567.1:c.553T>C, NM_001410717.1:c.553T>C

                8.

                rs1338801509 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:110171460 (GRCh38)
                  X:109414688 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:110171459:T:C
                  Gene:
                  TMEM164 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.110171460T>C, NC_000023.10:g.109414688T>C, XM_005262208.6:c.321T>C, XM_005262208.5:c.321T>C, XM_005262208.4:c.321T>C, XM_005262208.3:c.321T>C, XM_005262208.2:c.321T>C, XM_005262208.1:c.321T>C, XM_005262205.5:c.627T>C, XM_005262205.4:c.627T>C, XM_005262205.3:c.627T>C, XM_005262205.2:c.627T>C, XM_005262205.1:c.627T>C, NM_032227.4:c.627T>C, NM_032227.3:c.627T>C, XM_017029894.3:c.270T>C, XM_017029894.2:c.270T>C, XM_017029894.1:c.270T>C, NM_017698.3:c.180T>C, NM_017698.2:c.180T>C, XM_011531055.3:c.180T>C, XM_011531055.2:c.180T>C, XM_011531055.1:c.180T>C, XM_017029897.2:c.240T>C, XM_017029897.1:c.240T>C, NM_001353851.2:c.246T>C, NM_001353851.1:c.246T>C, NM_001353849.2:c.627T>C, NM_001353849.1:c.627T>C, XM_017029899.2:c.246T>C, XM_017029899.1:c.246T>C, NM_001353850.2:c.246T>C, NM_001353850.1:c.246T>C, XM_047442569.1:c.246T>C, XM_047442571.1:c.180T>C, XM_047442570.1:c.246T>C, XM_047442573.1:c.129T>C, XM_047442568.1:c.321T>C, XM_047442572.1:c.180T>C, XM_047442565.1:c.627T>C, XM_047442566.1:c.510T>C, XM_047442567.1:c.510T>C, NM_001410717.1:c.510T>C

                  9.

                  rs1319593446 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:110173419 (GRCh38)
                    X:109416647 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:110173418:T:C
                    Gene:
                    TMEM164 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.00001/1 (GnomAD)
                    HGVS:
                    NC_000023.11:g.110173419T>C, NC_000023.10:g.109416647T>C, XM_005262208.6:c.556T>C, XM_005262208.5:c.556T>C, XM_005262208.4:c.556T>C, XM_005262208.3:c.556T>C, XM_005262208.2:c.556T>C, XM_005262208.1:c.556T>C, XM_005262205.5:c.862T>C, XM_005262205.4:c.862T>C, XM_005262205.3:c.862T>C, XM_005262205.2:c.862T>C, XM_005262205.1:c.862T>C, NM_032227.4:c.862T>C, NM_032227.3:c.862T>C, XM_017029894.3:c.505T>C, XM_017029894.2:c.505T>C, XM_017029894.1:c.505T>C, NM_017698.3:c.415T>C, NM_017698.2:c.415T>C, XM_011531055.3:c.415T>C, XM_011531055.2:c.415T>C, XM_011531055.1:c.415T>C, XM_017029897.2:c.475T>C, XM_017029897.1:c.475T>C, NM_001353851.2:c.481T>C, NM_001353851.1:c.481T>C, NM_001353849.2:c.862T>C, NM_001353849.1:c.862T>C, XM_017029899.2:c.481T>C, XM_017029899.1:c.481T>C, NM_001353850.2:c.481T>C, NM_001353850.1:c.481T>C, XM_047442569.1:c.481T>C, XM_047442571.1:c.415T>C, XM_047442570.1:c.481T>C, XM_047442573.1:c.364T>C, XM_047442568.1:c.556T>C, XM_047442572.1:c.415T>C, XM_047442565.1:c.862T>C, XM_047442566.1:c.745T>C, XM_047442567.1:c.745T>C, NM_001410717.1:c.745T>C

                    10.

                    rs1309299447 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:110171499 (GRCh38)
                      X:109414727 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:110171498:C:T
                      Gene:
                      TMEM164 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000016/3 (GnomAD_exomes)
                      HGVS:
                      NC_000023.11:g.110171499C>T, NC_000023.10:g.109414727C>T, XM_005262208.6:c.360C>T, XM_005262208.5:c.360C>T, XM_005262208.4:c.360C>T, XM_005262208.3:c.360C>T, XM_005262208.2:c.360C>T, XM_005262208.1:c.360C>T, XM_005262205.5:c.666C>T, XM_005262205.4:c.666C>T, XM_005262205.3:c.666C>T, XM_005262205.2:c.666C>T, XM_005262205.1:c.666C>T, NM_032227.4:c.666C>T, NM_032227.3:c.666C>T, XM_017029894.3:c.309C>T, XM_017029894.2:c.309C>T, XM_017029894.1:c.309C>T, NM_017698.3:c.219C>T, NM_017698.2:c.219C>T, XM_011531055.3:c.219C>T, XM_011531055.2:c.219C>T, XM_011531055.1:c.219C>T, XM_017029897.2:c.279C>T, XM_017029897.1:c.279C>T, NM_001353851.2:c.285C>T, NM_001353851.1:c.285C>T, NM_001353849.2:c.666C>T, NM_001353849.1:c.666C>T, XM_017029899.2:c.285C>T, XM_017029899.1:c.285C>T, NM_001353850.2:c.285C>T, NM_001353850.1:c.285C>T, XM_047442569.1:c.285C>T, XM_047442571.1:c.219C>T, XM_047442570.1:c.285C>T, XM_047442573.1:c.168C>T, XM_047442568.1:c.360C>T, XM_047442572.1:c.219C>T, XM_047442565.1:c.666C>T, XM_047442566.1:c.549C>T, XM_047442567.1:c.549C>T, NM_001410717.1:c.549C>T

                      11.

                      rs1301807989 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:110171442 (GRCh38)
                        X:109414670 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:110171441:C:T
                        Gene:
                        TMEM164 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000011/2 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.110171442C>T, NC_000023.10:g.109414670C>T, XM_005262208.6:c.303C>T, XM_005262208.5:c.303C>T, XM_005262208.4:c.303C>T, XM_005262208.3:c.303C>T, XM_005262208.2:c.303C>T, XM_005262208.1:c.303C>T, XM_005262205.5:c.609C>T, XM_005262205.4:c.609C>T, XM_005262205.3:c.609C>T, XM_005262205.2:c.609C>T, XM_005262205.1:c.609C>T, NM_032227.4:c.609C>T, NM_032227.3:c.609C>T, XM_017029894.3:c.252C>T, XM_017029894.2:c.252C>T, XM_017029894.1:c.252C>T, NM_017698.3:c.162C>T, NM_017698.2:c.162C>T, XM_011531055.3:c.162C>T, XM_011531055.2:c.162C>T, XM_011531055.1:c.162C>T, XM_017029897.2:c.222C>T, XM_017029897.1:c.222C>T, NM_001353851.2:c.228C>T, NM_001353851.1:c.228C>T, NM_001353849.2:c.609C>T, NM_001353849.1:c.609C>T, XM_017029899.2:c.228C>T, XM_017029899.1:c.228C>T, NM_001353850.2:c.228C>T, NM_001353850.1:c.228C>T, XM_047442569.1:c.228C>T, XM_047442571.1:c.162C>T, XM_047442570.1:c.228C>T, XM_047442573.1:c.111C>T, XM_047442568.1:c.303C>T, XM_047442572.1:c.162C>T, XM_047442565.1:c.609C>T, XM_047442566.1:c.492C>T, XM_047442567.1:c.492C>T, NM_001410717.1:c.492C>T

                        12.

                        rs1262400062 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:110173293 (GRCh38)
                          X:109416521 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:110173292:C:T
                          Gene:
                          TMEM164 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.00001/1 (GnomAD)
                          HGVS:
                          NC_000023.11:g.110173293C>T, NC_000023.10:g.109416521C>T, XM_005262208.6:c.430C>T, XM_005262208.5:c.430C>T, XM_005262208.4:c.430C>T, XM_005262208.3:c.430C>T, XM_005262208.2:c.430C>T, XM_005262208.1:c.430C>T, XM_005262205.5:c.736C>T, XM_005262205.4:c.736C>T, XM_005262205.3:c.736C>T, XM_005262205.2:c.736C>T, XM_005262205.1:c.736C>T, NM_032227.4:c.736C>T, NM_032227.3:c.736C>T, XM_017029894.3:c.379C>T, XM_017029894.2:c.379C>T, XM_017029894.1:c.379C>T, NM_017698.3:c.289C>T, NM_017698.2:c.289C>T, XM_011531055.3:c.289C>T, XM_011531055.2:c.289C>T, XM_011531055.1:c.289C>T, XM_017029897.2:c.349C>T, XM_017029897.1:c.349C>T, NM_001353851.2:c.355C>T, NM_001353851.1:c.355C>T, NM_001353849.2:c.736C>T, NM_001353849.1:c.736C>T, XM_017029899.2:c.355C>T, XM_017029899.1:c.355C>T, NM_001353850.2:c.355C>T, NM_001353850.1:c.355C>T, XM_047442569.1:c.355C>T, XM_047442571.1:c.289C>T, XM_047442570.1:c.355C>T, XM_047442573.1:c.238C>T, XM_047442568.1:c.430C>T, XM_047442572.1:c.289C>T, XM_047442565.1:c.736C>T, XM_047442566.1:c.619C>T, XM_047442567.1:c.619C>T, NM_001410717.1:c.619C>T, XP_005262265.1:p.Pro144Ser, XP_005262262.1:p.Pro246Ser, NP_115603.2:p.Pro246Ser, XP_016885383.1:p.Pro127Ser, NP_060168.2:p.Pro97Ser, XP_011529357.1:p.Pro97Ser, XP_016885386.1:p.Pro117Ser, NP_001340780.1:p.Pro119Ser, NP_001340778.1:p.Pro246Ser, XP_016885388.1:p.Pro119Ser, NP_001340779.1:p.Pro119Ser, XP_047298525.1:p.Pro119Ser, XP_047298527.1:p.Pro97Ser, XP_047298526.1:p.Pro119Ser, XP_047298529.1:p.Pro80Ser, XP_047298524.1:p.Pro144Ser, XP_047298528.1:p.Pro97Ser, XP_047298521.1:p.Pro246Ser, XP_047298522.1:p.Pro207Ser, XP_047298523.1:p.Pro207Ser

                          13.

                          rs1237825310 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            X:110173301 (GRCh38)
                            X:109416529 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:110173300:C:A,NC_000023.11:110173300:C:T
                            Gene:
                            TMEM164 (Varview)
                            Functional Consequence:
                            synonymous_variant,stop_gained,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.00001/1 (GnomAD)
                            HGVS:
                            NC_000023.11:g.110173301C>A, NC_000023.11:g.110173301C>T, NC_000023.10:g.109416529C>A, NC_000023.10:g.109416529C>T, XM_005262208.6:c.438C>A, XM_005262208.6:c.438C>T, XM_005262208.5:c.438C>A, XM_005262208.5:c.438C>T, XM_005262208.4:c.438C>A, XM_005262208.4:c.438C>T, XM_005262208.3:c.438C>A, XM_005262208.3:c.438C>T, XM_005262208.2:c.438C>A, XM_005262208.2:c.438C>T, XM_005262208.1:c.438C>A, XM_005262208.1:c.438C>T, XM_005262205.5:c.744C>A, XM_005262205.5:c.744C>T, XM_005262205.4:c.744C>A, XM_005262205.4:c.744C>T, XM_005262205.3:c.744C>A, XM_005262205.3:c.744C>T, XM_005262205.2:c.744C>A, XM_005262205.2:c.744C>T, XM_005262205.1:c.744C>A, XM_005262205.1:c.744C>T, NM_032227.4:c.744C>A, NM_032227.4:c.744C>T, NM_032227.3:c.744C>A, NM_032227.3:c.744C>T, XM_017029894.3:c.387C>A, XM_017029894.3:c.387C>T, XM_017029894.2:c.387C>A, XM_017029894.2:c.387C>T, XM_017029894.1:c.387C>A, XM_017029894.1:c.387C>T, NM_017698.3:c.297C>A, NM_017698.3:c.297C>T, NM_017698.2:c.297C>A, NM_017698.2:c.297C>T, XM_011531055.3:c.297C>A, XM_011531055.3:c.297C>T, XM_011531055.2:c.297C>A, XM_011531055.2:c.297C>T, XM_011531055.1:c.297C>A, XM_011531055.1:c.297C>T, XM_017029897.2:c.357C>A, XM_017029897.2:c.357C>T, XM_017029897.1:c.357C>A, XM_017029897.1:c.357C>T, NM_001353851.2:c.363C>A, NM_001353851.2:c.363C>T, NM_001353851.1:c.363C>A, NM_001353851.1:c.363C>T, NM_001353849.2:c.744C>A, NM_001353849.2:c.744C>T, NM_001353849.1:c.744C>A, NM_001353849.1:c.744C>T, XM_017029899.2:c.363C>A, XM_017029899.2:c.363C>T, XM_017029899.1:c.363C>A, XM_017029899.1:c.363C>T, NM_001353850.2:c.363C>A, NM_001353850.2:c.363C>T, NM_001353850.1:c.363C>A, NM_001353850.1:c.363C>T, XM_047442569.1:c.363C>A, XM_047442569.1:c.363C>T, XM_047442571.1:c.297C>A, XM_047442571.1:c.297C>T, XM_047442570.1:c.363C>A, XM_047442570.1:c.363C>T, XM_047442573.1:c.246C>A, XM_047442573.1:c.246C>T, XM_047442568.1:c.438C>A, XM_047442568.1:c.438C>T, XM_047442572.1:c.297C>A, XM_047442572.1:c.297C>T, XM_047442565.1:c.744C>A, XM_047442565.1:c.744C>T, XM_047442566.1:c.627C>A, XM_047442566.1:c.627C>T, XM_047442567.1:c.627C>A, XM_047442567.1:c.627C>T, NM_001410717.1:c.627C>A, NM_001410717.1:c.627C>T, XP_005262265.1:p.Tyr146Ter, XP_005262262.1:p.Tyr248Ter, NP_115603.2:p.Tyr248Ter, XP_016885383.1:p.Tyr129Ter, NP_060168.2:p.Tyr99Ter, XP_011529357.1:p.Tyr99Ter, XP_016885386.1:p.Tyr119Ter, NP_001340780.1:p.Tyr121Ter, NP_001340778.1:p.Tyr248Ter, XP_016885388.1:p.Tyr121Ter, NP_001340779.1:p.Tyr121Ter, XP_047298525.1:p.Tyr121Ter, XP_047298527.1:p.Tyr99Ter, XP_047298526.1:p.Tyr121Ter, XP_047298529.1:p.Tyr82Ter, XP_047298524.1:p.Tyr146Ter, XP_047298528.1:p.Tyr99Ter, XP_047298521.1:p.Tyr248Ter, XP_047298522.1:p.Tyr209Ter, XP_047298523.1:p.Tyr209Ter

                            14.

                            rs1214676590 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:110173328 (GRCh38)
                              X:109416556 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:110173327:G:A
                              Gene:
                              TMEM164 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000005/1 (GnomAD_exomes)
                              A=0.00001/1 (GnomAD)
                              HGVS:
                              NC_000023.11:g.110173328G>A, NC_000023.10:g.109416556G>A, XM_005262208.6:c.465G>A, XM_005262208.5:c.465G>A, XM_005262208.4:c.465G>A, XM_005262208.3:c.465G>A, XM_005262208.2:c.465G>A, XM_005262208.1:c.465G>A, XM_005262205.5:c.771G>A, XM_005262205.4:c.771G>A, XM_005262205.3:c.771G>A, XM_005262205.2:c.771G>A, XM_005262205.1:c.771G>A, NM_032227.4:c.771G>A, NM_032227.3:c.771G>A, XM_017029894.3:c.414G>A, XM_017029894.2:c.414G>A, XM_017029894.1:c.414G>A, NM_017698.3:c.324G>A, NM_017698.2:c.324G>A, XM_011531055.3:c.324G>A, XM_011531055.2:c.324G>A, XM_011531055.1:c.324G>A, XM_017029897.2:c.384G>A, XM_017029897.1:c.384G>A, NM_001353851.2:c.390G>A, NM_001353851.1:c.390G>A, NM_001353849.2:c.771G>A, NM_001353849.1:c.771G>A, XM_017029899.2:c.390G>A, XM_017029899.1:c.390G>A, NM_001353850.2:c.390G>A, NM_001353850.1:c.390G>A, XM_047442569.1:c.390G>A, XM_047442571.1:c.324G>A, XM_047442570.1:c.390G>A, XM_047442573.1:c.273G>A, XM_047442568.1:c.465G>A, XM_047442572.1:c.324G>A, XM_047442565.1:c.771G>A, XM_047442566.1:c.654G>A, XM_047442567.1:c.654G>A, NM_001410717.1:c.654G>A

                              15.

                              rs1159686583 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                X:110171485 (GRCh38)
                                X:109414713 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:110171484:T:G
                                Gene:
                                TMEM164 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000169/2 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000023.11:g.110171485T>G, NC_000023.10:g.109414713T>G, XM_005262208.6:c.346T>G, XM_005262208.5:c.346T>G, XM_005262208.4:c.346T>G, XM_005262208.3:c.346T>G, XM_005262208.2:c.346T>G, XM_005262208.1:c.346T>G, XM_005262205.5:c.652T>G, XM_005262205.4:c.652T>G, XM_005262205.3:c.652T>G, XM_005262205.2:c.652T>G, XM_005262205.1:c.652T>G, NM_032227.4:c.652T>G, NM_032227.3:c.652T>G, XM_017029894.3:c.295T>G, XM_017029894.2:c.295T>G, XM_017029894.1:c.295T>G, NM_017698.3:c.205T>G, NM_017698.2:c.205T>G, XM_011531055.3:c.205T>G, XM_011531055.2:c.205T>G, XM_011531055.1:c.205T>G, XM_017029897.2:c.265T>G, XM_017029897.1:c.265T>G, NM_001353851.2:c.271T>G, NM_001353851.1:c.271T>G, NM_001353849.2:c.652T>G, NM_001353849.1:c.652T>G, XM_017029899.2:c.271T>G, XM_017029899.1:c.271T>G, NM_001353850.2:c.271T>G, NM_001353850.1:c.271T>G, XM_047442569.1:c.271T>G, XM_047442571.1:c.205T>G, XM_047442570.1:c.271T>G, XM_047442573.1:c.154T>G, XM_047442568.1:c.346T>G, XM_047442572.1:c.205T>G, XM_047442565.1:c.652T>G, XM_047442566.1:c.535T>G, XM_047442567.1:c.535T>G, NM_001410717.1:c.535T>G, XP_005262265.1:p.Phe116Val, XP_005262262.1:p.Phe218Val, NP_115603.2:p.Phe218Val, XP_016885383.1:p.Phe99Val, NP_060168.2:p.Phe69Val, XP_011529357.1:p.Phe69Val, XP_016885386.1:p.Phe89Val, NP_001340780.1:p.Phe91Val, NP_001340778.1:p.Phe218Val, XP_016885388.1:p.Phe91Val, NP_001340779.1:p.Phe91Val, XP_047298525.1:p.Phe91Val, XP_047298527.1:p.Phe69Val, XP_047298526.1:p.Phe91Val, XP_047298529.1:p.Phe52Val, XP_047298524.1:p.Phe116Val, XP_047298528.1:p.Phe69Val, XP_047298521.1:p.Phe218Val, XP_047298522.1:p.Phe179Val, XP_047298523.1:p.Phe179Val

                                16.

                                rs1054160023 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  X:110173256 (GRCh38)
                                  X:109416484 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:110173255:G:T
                                  Gene:
                                  TMEM164 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  HGVS:
                                  NC_000023.11:g.110173256G>T, NC_000023.10:g.109416484G>T, XM_005262208.6:c.393G>T, XM_005262208.5:c.393G>T, XM_005262208.4:c.393G>T, XM_005262208.3:c.393G>T, XM_005262208.2:c.393G>T, XM_005262208.1:c.393G>T, XM_005262205.5:c.699G>T, XM_005262205.4:c.699G>T, XM_005262205.3:c.699G>T, XM_005262205.2:c.699G>T, XM_005262205.1:c.699G>T, NM_032227.4:c.699G>T, NM_032227.3:c.699G>T, XM_017029894.3:c.342G>T, XM_017029894.2:c.342G>T, XM_017029894.1:c.342G>T, NM_017698.3:c.252G>T, NM_017698.2:c.252G>T, XM_011531055.3:c.252G>T, XM_011531055.2:c.252G>T, XM_011531055.1:c.252G>T, XM_017029897.2:c.312G>T, XM_017029897.1:c.312G>T, NM_001353851.2:c.318G>T, NM_001353851.1:c.318G>T, NM_001353849.2:c.699G>T, NM_001353849.1:c.699G>T, XM_017029899.2:c.318G>T, XM_017029899.1:c.318G>T, NM_001353850.2:c.318G>T, NM_001353850.1:c.318G>T, XM_047442569.1:c.318G>T, XM_047442571.1:c.252G>T, XM_047442570.1:c.318G>T, XM_047442573.1:c.201G>T, XM_047442568.1:c.393G>T, XM_047442572.1:c.252G>T, XM_047442565.1:c.699G>T, XM_047442566.1:c.582G>T, XM_047442567.1:c.582G>T, NM_001410717.1:c.582G>T

                                  17.

                                  rs1015477892 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:110173425 (GRCh38)
                                    X:109416653 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:110173424:C:T
                                    Gene:
                                    TMEM164 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000022/4 (GnomAD_exomes)
                                    T=0.000029/3 (GnomAD)
                                    HGVS:
                                    NC_000023.11:g.110173425C>T, NC_000023.10:g.109416653C>T, XM_005262208.6:c.562C>T, XM_005262208.5:c.562C>T, XM_005262208.4:c.562C>T, XM_005262208.3:c.562C>T, XM_005262208.2:c.562C>T, XM_005262208.1:c.562C>T, XM_005262205.5:c.868C>T, XM_005262205.4:c.868C>T, XM_005262205.3:c.868C>T, XM_005262205.2:c.868C>T, XM_005262205.1:c.868C>T, NM_032227.4:c.868C>T, NM_032227.3:c.868C>T, XM_017029894.3:c.511C>T, XM_017029894.2:c.511C>T, XM_017029894.1:c.511C>T, NM_017698.3:c.421C>T, NM_017698.2:c.421C>T, XM_011531055.3:c.421C>T, XM_011531055.2:c.421C>T, XM_011531055.1:c.421C>T, XM_017029897.2:c.481C>T, XM_017029897.1:c.481C>T, NM_001353851.2:c.487C>T, NM_001353851.1:c.487C>T, NM_001353849.2:c.868C>T, NM_001353849.1:c.868C>T, XM_017029899.2:c.487C>T, XM_017029899.1:c.487C>T, NM_001353850.2:c.487C>T, NM_001353850.1:c.487C>T, XM_047442569.1:c.487C>T, XM_047442571.1:c.421C>T, XM_047442570.1:c.487C>T, XM_047442573.1:c.370C>T, XM_047442568.1:c.562C>T, XM_047442572.1:c.421C>T, XM_047442565.1:c.868C>T, XM_047442566.1:c.751C>T, XM_047442567.1:c.751C>T, NM_001410717.1:c.751C>T, XP_005262265.1:p.Arg188Trp, XP_005262262.1:p.Arg290Trp, NP_115603.2:p.Arg290Trp, XP_016885383.1:p.Arg171Trp, NP_060168.2:p.Arg141Trp, XP_011529357.1:p.Arg141Trp, XP_016885386.1:p.Arg161Trp, NP_001340780.1:p.Arg163Trp, NP_001340778.1:p.Arg290Trp, XP_016885388.1:p.Arg163Trp, NP_001340779.1:p.Arg163Trp, XP_047298525.1:p.Arg163Trp, XP_047298527.1:p.Arg141Trp, XP_047298526.1:p.Arg163Trp, XP_047298529.1:p.Arg124Trp, XP_047298524.1:p.Arg188Trp, XP_047298528.1:p.Arg141Trp, XP_047298521.1:p.Arg290Trp, XP_047298522.1:p.Arg251Trp, XP_047298523.1:p.Arg251Trp

                                    18.

                                    rs995820489 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:110109122 (GRCh38)
                                      X:109352350 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:110109121:G:A
                                      Gene:
                                      TMEM164 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,intron_variant
                                      HGVS:
                                      NC_000023.11:g.110109122G>A, NC_000023.10:g.109352350G>A, XM_005262208.6:c.177G>A, XM_005262208.5:c.177G>A, XM_005262208.4:c.177G>A, XM_005262208.3:c.177G>A, XM_005262208.2:c.177G>A, XM_005262208.1:c.177G>A, XM_005262205.5:c.483G>A, XM_005262205.4:c.483G>A, XM_005262205.3:c.483G>A, XM_005262205.2:c.483G>A, XM_005262205.1:c.483G>A, NM_032227.4:c.483G>A, NM_032227.3:c.483G>A, XM_017029894.3:c.126G>A, XM_017029894.2:c.126G>A, XM_017029894.1:c.126G>A, NM_017698.3:c.36G>A, NM_017698.2:c.36G>A, XM_011531055.3:c.36G>A, XM_011531055.2:c.36G>A, XM_011531055.1:c.36G>A, XM_017029897.2:c.96G>A, XM_017029897.1:c.96G>A, NM_001353851.2:c.102G>A, NM_001353851.1:c.102G>A, NM_001353849.2:c.483G>A, NM_001353849.1:c.483G>A, XM_017029899.2:c.102G>A, XM_017029899.1:c.102G>A, NM_001353850.2:c.102G>A, NM_001353850.1:c.102G>A, XM_047442569.1:c.102G>A, XM_047442571.1:c.36G>A, XM_047442570.1:c.102G>A, XM_047442568.1:c.177G>A, XM_047442572.1:c.36G>A, XM_047442565.1:c.483G>A

                                      19.

                                      rs960234465 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:110173327 (GRCh38)
                                        X:109416555 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:110173326:C:T
                                        Gene:
                                        TMEM164 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000023.11:g.110173327C>T, NC_000023.10:g.109416555C>T, XM_005262208.6:c.464C>T, XM_005262208.5:c.464C>T, XM_005262208.4:c.464C>T, XM_005262208.3:c.464C>T, XM_005262208.2:c.464C>T, XM_005262208.1:c.464C>T, XM_005262205.5:c.770C>T, XM_005262205.4:c.770C>T, XM_005262205.3:c.770C>T, XM_005262205.2:c.770C>T, XM_005262205.1:c.770C>T, NM_032227.4:c.770C>T, NM_032227.3:c.770C>T, XM_017029894.3:c.413C>T, XM_017029894.2:c.413C>T, XM_017029894.1:c.413C>T, NM_017698.3:c.323C>T, NM_017698.2:c.323C>T, XM_011531055.3:c.323C>T, XM_011531055.2:c.323C>T, XM_011531055.1:c.323C>T, XM_017029897.2:c.383C>T, XM_017029897.1:c.383C>T, NM_001353851.2:c.389C>T, NM_001353851.1:c.389C>T, NM_001353849.2:c.770C>T, NM_001353849.1:c.770C>T, XM_017029899.2:c.389C>T, XM_017029899.1:c.389C>T, NM_001353850.2:c.389C>T, NM_001353850.1:c.389C>T, XM_047442569.1:c.389C>T, XM_047442571.1:c.323C>T, XM_047442570.1:c.389C>T, XM_047442573.1:c.272C>T, XM_047442568.1:c.464C>T, XM_047442572.1:c.323C>T, XM_047442565.1:c.770C>T, XM_047442566.1:c.653C>T, XM_047442567.1:c.653C>T, NM_001410717.1:c.653C>T, XP_005262265.1:p.Ser155Leu, XP_005262262.1:p.Ser257Leu, NP_115603.2:p.Ser257Leu, XP_016885383.1:p.Ser138Leu, NP_060168.2:p.Ser108Leu, XP_011529357.1:p.Ser108Leu, XP_016885386.1:p.Ser128Leu, NP_001340780.1:p.Ser130Leu, NP_001340778.1:p.Ser257Leu, XP_016885388.1:p.Ser130Leu, NP_001340779.1:p.Ser130Leu, XP_047298525.1:p.Ser130Leu, XP_047298527.1:p.Ser108Leu, XP_047298526.1:p.Ser130Leu, XP_047298529.1:p.Ser91Leu, XP_047298524.1:p.Ser155Leu, XP_047298528.1:p.Ser108Leu, XP_047298521.1:p.Ser257Leu, XP_047298522.1:p.Ser218Leu, XP_047298523.1:p.Ser218Leu

                                        20.

                                        rs943897706 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          X:110144809 (GRCh38)
                                          X:109388037 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:110144808:A:G
                                          Gene:
                                          TMEM164 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00001/1 (GnomAD)
                                          HGVS:
                                          NC_000023.11:g.110144809A>G, NC_000023.10:g.109388037A>G, XM_005262208.6:c.213A>G, XM_005262208.5:c.213A>G, XM_005262208.4:c.213A>G, XM_005262208.3:c.213A>G, XM_005262208.2:c.213A>G, XM_005262208.1:c.213A>G, XM_005262205.5:c.519A>G, XM_005262205.4:c.519A>G, XM_005262205.3:c.519A>G, XM_005262205.2:c.519A>G, XM_005262205.1:c.519A>G, NM_032227.4:c.519A>G, NM_032227.3:c.519A>G, XM_017029894.3:c.162A>G, XM_017029894.2:c.162A>G, XM_017029894.1:c.162A>G, NM_017698.3:c.72A>G, NM_017698.2:c.72A>G, XM_011531055.3:c.72A>G, XM_011531055.2:c.72A>G, XM_011531055.1:c.72A>G, XM_017029897.2:c.132A>G, XM_017029897.1:c.132A>G, NM_001353851.2:c.138A>G, NM_001353851.1:c.138A>G, NM_001353849.2:c.519A>G, NM_001353849.1:c.519A>G, XM_017029899.2:c.138A>G, XM_017029899.1:c.138A>G, NM_001353850.2:c.138A>G, NM_001353850.1:c.138A>G, XM_047442569.1:c.138A>G, XM_047442571.1:c.72A>G, XM_047442570.1:c.138A>G, XM_047442573.1:c.21A>G, XM_047442568.1:c.213A>G, XM_047442572.1:c.72A>G, XM_047442565.1:c.519A>G, XM_047442566.1:c.402A>G, XM_047442567.1:c.402A>G, NM_001410717.1:c.402A>G

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