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Items: 1 to 20 of 413

1.

rs1489394331 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    22:38231283 (GRCh38)
    22:38627289 (GRCh37)
    Canonical SPDI:
    NC_000022.11:38231282:T:A
    Gene:
    TMEM184B (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.38231283T>A, NC_000022.10:g.38627289T>A, NM_012264.5:c.410A>T, NM_012264.4:c.410A>T, XM_011530115.4:c.338A>T, XM_011530115.3:c.338A>T, XM_011530115.2:c.338A>T, XM_011530115.1:c.338A>T, XM_011530112.3:c.509A>T, XM_011530112.2:c.509A>T, XM_011530112.1:c.410A>T, XM_017028755.2:c.509A>T, XM_017028755.1:c.509A>T, XM_017028754.2:c.509A>T, XM_017028754.1:c.509A>T, NM_001195072.2:c.212A>T, NM_001195072.1:c.212A>T, XM_011530114.2:c.410A>T, XM_011530114.1:c.410A>T, XM_011530113.2:c.410A>T, XM_011530113.1:c.410A>T, XM_017028756.2:c.410A>T, XM_017028756.1:c.410A>T, XM_017028759.2:c.62A>T, XM_017028759.1:c.62A>T, XM_017028757.2:c.338A>T, XM_017028757.1:c.338A>T, NM_001195071.1:c.410A>T, XM_047441315.1:c.410A>T, XM_047441320.1:c.62A>T, XM_047441317.1:c.212A>T, XM_047441318.1:c.212A>T, XM_047441316.1:c.509A>T, XM_047441319.1:c.410A>T, NP_036396.2:p.Glu137Val, XP_011528417.1:p.Glu113Val, XP_011528414.2:p.Glu170Val, XP_016884244.1:p.Glu170Val, XP_016884243.1:p.Glu170Val, NP_001182001.1:p.Glu71Val, XP_011528416.1:p.Glu137Val, XP_011528415.1:p.Glu137Val, XP_016884245.1:p.Glu137Val, XP_016884248.1:p.Glu21Val, XP_016884246.1:p.Glu113Val, NP_001182000.1:p.Glu137Val, XP_047297271.1:p.Glu137Val, XP_047297276.1:p.Glu21Val, XP_047297273.1:p.Glu71Val, XP_047297274.1:p.Glu71Val, XP_047297272.1:p.Glu170Val, XP_047297275.1:p.Glu137Val

    2.

    rs1488450896 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      22:38221609 (GRCh38)
      22:38617616 (GRCh37)
      Canonical SPDI:
      NC_000022.11:38221608:G:A
      Gene:
      TMEM184B (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,stop_gained
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000022.11:g.38221609G>A, NC_000022.10:g.38617616G>A, NM_012264.5:c.1084C>T, NM_012264.4:c.1084C>T, XM_011530115.4:c.1048C>T, XM_011530115.3:c.1048C>T, XM_011530115.2:c.1048C>T, XM_011530115.1:c.1048C>T, XM_011530112.3:c.1204C>T, XM_011530112.2:c.1204C>T, XM_011530112.1:c.1105C>T, XM_017028755.2:c.1183C>T, XM_017028755.1:c.1183C>T, XM_017028754.2:c.1219C>T, XM_017028754.1:c.1219C>T, NM_001195072.2:c.886C>T, NM_001195072.1:c.886C>T, XM_011530114.2:c.1120C>T, XM_011530114.1:c.1120C>T, XM_011530113.2:c.1120C>T, XM_011530113.1:c.1120C>T, XM_017028756.2:c.1105C>T, XM_017028756.1:c.1105C>T, XM_017028759.2:c.736C>T, XM_017028759.1:c.736C>T, XM_017028757.2:c.1033C>T, XM_017028757.1:c.1033C>T, NM_001195071.1:c.1084C>T, XM_047441315.1:c.1120C>T, XM_047441320.1:c.736C>T, XM_047441317.1:c.922C>T, XM_047441318.1:c.922C>T, NP_036396.2:p.Gln362Ter, XP_011528417.1:p.Gln350Ter, XP_011528414.2:p.Gln402Ter, XP_016884244.1:p.Gln395Ter, XP_016884243.1:p.Gln407Ter, NP_001182001.1:p.Gln296Ter, XP_011528416.1:p.Gln374Ter, XP_011528415.1:p.Gln374Ter, XP_016884245.1:p.Gln369Ter, XP_016884248.1:p.Gln246Ter, XP_016884246.1:p.Gln345Ter, NP_001182000.1:p.Gln362Ter, XP_047297271.1:p.Gln374Ter, XP_047297276.1:p.Gln246Ter, XP_047297273.1:p.Gln308Ter, XP_047297274.1:p.Gln308Ter

      3.

      rs1487107178 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        22:38226841 (GRCh38)
        22:38622848 (GRCh37)
        Canonical SPDI:
        NC_000022.11:38226840:T:G
        Gene:
        TMEM184B (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        G=0.000009/2 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.38226841T>G, NC_000022.10:g.38622848T>G, NM_012264.5:c.555A>C, NM_012264.4:c.555A>C, XM_011530115.4:c.483A>C, XM_011530115.3:c.483A>C, XM_011530115.2:c.483A>C, XM_011530115.1:c.483A>C, XM_011530112.3:c.654A>C, XM_011530112.2:c.654A>C, XM_011530112.1:c.555A>C, XM_017028755.2:c.654A>C, XM_017028755.1:c.654A>C, XM_017028754.2:c.654A>C, XM_017028754.1:c.654A>C, NM_001195072.2:c.357A>C, NM_001195072.1:c.357A>C, XM_011530114.2:c.555A>C, XM_011530114.1:c.555A>C, XM_011530113.2:c.555A>C, XM_011530113.1:c.555A>C, XM_017028756.2:c.555A>C, XM_017028756.1:c.555A>C, XM_017028759.2:c.207A>C, XM_017028759.1:c.207A>C, XM_017028757.2:c.483A>C, XM_017028757.1:c.483A>C, NM_001195071.1:c.555A>C, XM_047441315.1:c.555A>C, XM_047441320.1:c.207A>C, XM_047441317.1:c.357A>C, XM_047441318.1:c.357A>C, XM_047441316.1:c.654A>C, XM_047441319.1:c.555A>C

        4.

        rs1487005037 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          22:38247922 (GRCh38)
          22:38643928 (GRCh37)
          Canonical SPDI:
          NC_000022.11:38247921:A:G
          Gene:
          TMEM184B (Varview)
          Functional Consequence:
          5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.0003/1 (KOREAN)
          G=0.0005/1 (Korea1K)
          HGVS:
          NC_000022.11:g.38247922A>G, NC_000022.10:g.38643928A>G, NM_012264.5:c.40T>C, NM_012264.4:c.40T>C, XM_011530115.4:c.134T>C, XM_011530115.3:c.134T>C, XM_011530115.2:c.134T>C, XM_011530115.1:c.134T>C, XM_011530112.3:c.139T>C, XM_011530112.2:c.139T>C, XM_011530112.1:c.40T>C, XM_017028755.2:c.139T>C, XM_017028755.1:c.139T>C, XM_017028754.2:c.139T>C, XM_017028754.1:c.139T>C, NM_001195072.2:c.-260T>C, NM_001195072.1:c.-260T>C, XM_011530114.2:c.40T>C, XM_011530114.1:c.40T>C, XM_011530113.2:c.40T>C, XM_011530113.1:c.40T>C, XM_017028756.2:c.40T>C, XM_017028756.1:c.40T>C, XM_017028759.2:c.-143T>C, XM_017028759.1:c.-143T>C, XM_017028757.2:c.134T>C, XM_017028757.1:c.134T>C, NM_001195071.1:c.40T>C, XM_047441315.1:c.40T>C, XM_047441320.1:c.-143T>C, XM_047441316.1:c.139T>C, XM_047441319.1:c.40T>C, NP_036396.2:p.Ser14Pro, XP_011528417.1:p.Val45Ala, XP_011528414.2:p.Ser47Pro, XP_016884244.1:p.Ser47Pro, XP_016884243.1:p.Ser47Pro, XP_011528416.1:p.Ser14Pro, XP_011528415.1:p.Ser14Pro, XP_016884245.1:p.Ser14Pro, XP_016884246.1:p.Val45Ala, NP_001182000.1:p.Ser14Pro, XP_047297271.1:p.Ser14Pro, XP_047297272.1:p.Ser47Pro, XP_047297275.1:p.Ser14Pro

          5.

          rs1480524769 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            22:38247933 (GRCh38)
            22:38643939 (GRCh37)
            Canonical SPDI:
            NC_000022.11:38247932:G:A,NC_000022.11:38247932:G:C
            Gene:
            TMEM184B (Varview)
            Functional Consequence:
            5_prime_UTR_variant,upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000022.11:g.38247933G>A, NC_000022.11:g.38247933G>C, NC_000022.10:g.38643939G>A, NC_000022.10:g.38643939G>C, NM_012264.5:c.29C>T, NM_012264.5:c.29C>G, NM_012264.4:c.29C>T, NM_012264.4:c.29C>G, XM_011530115.4:c.123C>T, XM_011530115.4:c.123C>G, XM_011530115.3:c.123C>T, XM_011530115.3:c.123C>G, XM_011530115.2:c.123C>T, XM_011530115.2:c.123C>G, XM_011530115.1:c.123C>T, XM_011530115.1:c.123C>G, XM_011530112.3:c.128C>T, XM_011530112.3:c.128C>G, XM_011530112.2:c.128C>T, XM_011530112.2:c.128C>G, XM_011530112.1:c.29C>T, XM_011530112.1:c.29C>G, XM_017028755.2:c.128C>T, XM_017028755.2:c.128C>G, XM_017028755.1:c.128C>T, XM_017028755.1:c.128C>G, XM_017028754.2:c.128C>T, XM_017028754.2:c.128C>G, XM_017028754.1:c.128C>T, XM_017028754.1:c.128C>G, NM_001195072.2:c.-271C>T, NM_001195072.2:c.-271C>G, NM_001195072.1:c.-271C>T, NM_001195072.1:c.-271C>G, XM_011530114.2:c.29C>T, XM_011530114.2:c.29C>G, XM_011530114.1:c.29C>T, XM_011530114.1:c.29C>G, XM_011530113.2:c.29C>T, XM_011530113.2:c.29C>G, XM_011530113.1:c.29C>T, XM_011530113.1:c.29C>G, XM_017028756.2:c.29C>T, XM_017028756.2:c.29C>G, XM_017028756.1:c.29C>T, XM_017028756.1:c.29C>G, XM_017028759.2:c.-154C>T, XM_017028759.2:c.-154C>G, XM_017028759.1:c.-154C>T, XM_017028759.1:c.-154C>G, XM_017028757.2:c.123C>T, XM_017028757.2:c.123C>G, XM_017028757.1:c.123C>T, XM_017028757.1:c.123C>G, NM_001195071.1:c.29C>T, NM_001195071.1:c.29C>G, XM_047441315.1:c.29C>T, XM_047441315.1:c.29C>G, XM_047441320.1:c.-154C>T, XM_047441320.1:c.-154C>G, XM_047441316.1:c.128C>T, XM_047441316.1:c.128C>G, XM_047441319.1:c.29C>T, XM_047441319.1:c.29C>G, NP_036396.2:p.Pro10Leu, NP_036396.2:p.Pro10Arg, XP_011528414.2:p.Pro43Leu, XP_011528414.2:p.Pro43Arg, XP_016884244.1:p.Pro43Leu, XP_016884244.1:p.Pro43Arg, XP_016884243.1:p.Pro43Leu, XP_016884243.1:p.Pro43Arg, XP_011528416.1:p.Pro10Leu, XP_011528416.1:p.Pro10Arg, XP_011528415.1:p.Pro10Leu, XP_011528415.1:p.Pro10Arg, XP_016884245.1:p.Pro10Leu, XP_016884245.1:p.Pro10Arg, NP_001182000.1:p.Pro10Leu, NP_001182000.1:p.Pro10Arg, XP_047297271.1:p.Pro10Leu, XP_047297271.1:p.Pro10Arg, XP_047297272.1:p.Pro43Leu, XP_047297272.1:p.Pro43Arg, XP_047297275.1:p.Pro10Leu, XP_047297275.1:p.Pro10Arg

            6.

            rs1479654907 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              22:38224951 (GRCh38)
              22:38620958 (GRCh37)
              Canonical SPDI:
              NC_000022.11:38224950:A:G
              Gene:
              TMEM184B (Varview), SNORA92 (Varview)
              Functional Consequence:
              2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000022.11:g.38224951A>G, NC_000022.10:g.38620958A>G, NM_012264.5:c.816T>C, NM_012264.4:c.816T>C, XM_011530115.4:c.744T>C, XM_011530115.3:c.744T>C, XM_011530115.2:c.744T>C, XM_011530115.1:c.744T>C, XM_011530112.3:c.915T>C, XM_011530112.2:c.915T>C, XM_011530112.1:c.816T>C, XM_017028755.2:c.915T>C, XM_017028755.1:c.915T>C, XM_017028754.2:c.915T>C, XM_017028754.1:c.915T>C, NM_001195072.2:c.618T>C, NM_001195072.1:c.618T>C, XM_011530114.2:c.816T>C, XM_011530114.1:c.816T>C, XM_011530113.2:c.816T>C, XM_011530113.1:c.816T>C, XM_017028756.2:c.816T>C, XM_017028756.1:c.816T>C, XM_017028759.2:c.468T>C, XM_017028759.1:c.468T>C, XM_017028757.2:c.744T>C, XM_017028757.1:c.744T>C, NM_001195071.1:c.816T>C, XM_047441315.1:c.816T>C, XM_047441320.1:c.468T>C, XM_047441317.1:c.618T>C, XM_047441318.1:c.618T>C, XM_047441316.1:c.915T>C, XM_047441319.1:c.816T>C

              7.

              rs1479335626 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                22:38221512 (GRCh38)
                22:38617519 (GRCh37)
                Canonical SPDI:
                NC_000022.11:38221511:T:A
                Gene:
                TMEM184B (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000022.11:g.38221512T>A, NC_000022.10:g.38617519T>A, NM_012264.5:c.1181A>T, NM_012264.4:c.1181A>T, XM_011530115.4:c.1145A>T, XM_011530115.3:c.1145A>T, XM_011530115.2:c.1145A>T, XM_011530115.1:c.1145A>T, XM_011530112.3:c.1301A>T, XM_011530112.2:c.1301A>T, XM_011530112.1:c.1202A>T, XM_017028755.2:c.1280A>T, XM_017028755.1:c.1280A>T, XM_017028754.2:c.1316A>T, XM_017028754.1:c.1316A>T, NM_001195072.2:c.983A>T, NM_001195072.1:c.983A>T, XM_011530114.2:c.1217A>T, XM_011530114.1:c.1217A>T, XM_011530113.2:c.1217A>T, XM_011530113.1:c.1217A>T, XM_017028756.2:c.1202A>T, XM_017028756.1:c.1202A>T, XM_017028759.2:c.833A>T, XM_017028759.1:c.833A>T, XM_017028757.2:c.1130A>T, XM_017028757.1:c.1130A>T, NM_001195071.1:c.1181A>T, XM_047441315.1:c.1217A>T, XM_047441320.1:c.833A>T, XM_047441317.1:c.1019A>T, XM_047441318.1:c.1019A>T, NP_036396.2:p.Asp394Val, XP_011528417.1:p.Asp382Val, XP_011528414.2:p.Asp434Val, XP_016884244.1:p.Asp427Val, XP_016884243.1:p.Asp439Val, NP_001182001.1:p.Asp328Val, XP_011528416.1:p.Asp406Val, XP_011528415.1:p.Asp406Val, XP_016884245.1:p.Asp401Val, XP_016884248.1:p.Asp278Val, XP_016884246.1:p.Asp377Val, NP_001182000.1:p.Asp394Val, XP_047297271.1:p.Asp406Val, XP_047297276.1:p.Asp278Val, XP_047297273.1:p.Asp340Val, XP_047297274.1:p.Asp340Val

                8.

                rs1477180483 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  22:38230712 (GRCh38)
                  22:38626718 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:38230711:C:A
                  Gene:
                  TMEM184B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.38230712C>A, NC_000022.10:g.38626718C>A, NM_012264.5:c.482G>T, NM_012264.4:c.482G>T, XM_011530115.4:c.410G>T, XM_011530115.3:c.410G>T, XM_011530115.2:c.410G>T, XM_011530115.1:c.410G>T, XM_011530112.3:c.581G>T, XM_011530112.2:c.581G>T, XM_011530112.1:c.482G>T, XM_017028755.2:c.581G>T, XM_017028755.1:c.581G>T, XM_017028754.2:c.581G>T, XM_017028754.1:c.581G>T, NM_001195072.2:c.284G>T, NM_001195072.1:c.284G>T, XM_011530114.2:c.482G>T, XM_011530114.1:c.482G>T, XM_011530113.2:c.482G>T, XM_011530113.1:c.482G>T, XM_017028756.2:c.482G>T, XM_017028756.1:c.482G>T, XM_017028759.2:c.134G>T, XM_017028759.1:c.134G>T, XM_017028757.2:c.410G>T, XM_017028757.1:c.410G>T, NM_001195071.1:c.482G>T, XM_047441315.1:c.482G>T, XM_047441320.1:c.134G>T, XM_047441317.1:c.284G>T, XM_047441318.1:c.284G>T, XM_047441316.1:c.581G>T, XM_047441319.1:c.482G>T, NP_036396.2:p.Trp161Leu, XP_011528417.1:p.Trp137Leu, XP_011528414.2:p.Trp194Leu, XP_016884244.1:p.Trp194Leu, XP_016884243.1:p.Trp194Leu, NP_001182001.1:p.Trp95Leu, XP_011528416.1:p.Trp161Leu, XP_011528415.1:p.Trp161Leu, XP_016884245.1:p.Trp161Leu, XP_016884248.1:p.Trp45Leu, XP_016884246.1:p.Trp137Leu, NP_001182000.1:p.Trp161Leu, XP_047297271.1:p.Trp161Leu, XP_047297276.1:p.Trp45Leu, XP_047297273.1:p.Trp95Leu, XP_047297274.1:p.Trp95Leu, XP_047297272.1:p.Trp194Leu, XP_047297275.1:p.Trp161Leu

                  9.

                  rs1476642409 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    22:38221671 (GRCh38)
                    22:38617678 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:38221670:T:C
                    Gene:
                    TMEM184B (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000022.11:g.38221671T>C, NC_000022.10:g.38617678T>C, NM_012264.5:c.1022A>G, NM_012264.4:c.1022A>G, XM_011530115.4:c.986A>G, XM_011530115.3:c.986A>G, XM_011530115.2:c.986A>G, XM_011530115.1:c.986A>G, XM_011530112.3:c.1142A>G, XM_011530112.2:c.1142A>G, XM_011530112.1:c.1043A>G, XM_017028755.2:c.1121A>G, XM_017028755.1:c.1121A>G, XM_017028754.2:c.1157A>G, XM_017028754.1:c.1157A>G, NM_001195072.2:c.824A>G, NM_001195072.1:c.824A>G, XM_011530114.2:c.1058A>G, XM_011530114.1:c.1058A>G, XM_011530113.2:c.1058A>G, XM_011530113.1:c.1058A>G, XM_017028756.2:c.1043A>G, XM_017028756.1:c.1043A>G, XM_017028759.2:c.674A>G, XM_017028759.1:c.674A>G, XM_017028757.2:c.971A>G, XM_017028757.1:c.971A>G, NM_001195071.1:c.1022A>G, XM_047441315.1:c.1058A>G, XM_047441320.1:c.674A>G, XM_047441317.1:c.860A>G, XM_047441318.1:c.860A>G, NP_036396.2:p.Lys341Arg, XP_011528417.1:p.Lys329Arg, XP_011528414.2:p.Lys381Arg, XP_016884244.1:p.Lys374Arg, XP_016884243.1:p.Lys386Arg, NP_001182001.1:p.Lys275Arg, XP_011528416.1:p.Lys353Arg, XP_011528415.1:p.Lys353Arg, XP_016884245.1:p.Lys348Arg, XP_016884248.1:p.Lys225Arg, XP_016884246.1:p.Lys324Arg, NP_001182000.1:p.Lys341Arg, XP_047297271.1:p.Lys353Arg, XP_047297276.1:p.Lys225Arg, XP_047297273.1:p.Lys287Arg, XP_047297274.1:p.Lys287Arg

                    10.

                    rs1475546431 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAG>- [Show Flanks]
                      Chromosome:
                      22:38247807 (GRCh38)
                      22:38643813 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:38247802:GAAGAAG:GAAG
                      Gene:
                      TMEM184B (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,upstream_transcript_variant,inframe_deletion,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GAAG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000022.11:g.38247804AAG[1], NC_000022.10:g.38643810AAG[1], NM_012264.5:c.154TTC[1], NM_012264.4:c.154TTC[1], XM_011530115.4:c.248TTC[1], XM_011530115.3:c.248TTC[1], XM_011530115.2:c.248TTC[1], XM_011530115.1:c.248TTC[1], XM_011530112.3:c.253TTC[1], XM_011530112.2:c.253TTC[1], XM_011530112.1:c.154TTC[1], XM_017028755.2:c.253TTC[1], XM_017028755.1:c.253TTC[1], XM_017028754.2:c.253TTC[1], XM_017028754.1:c.253TTC[1], NM_001195072.2:c.-146TTC[1], NM_001195072.1:c.-146TTC[1], XM_011530114.2:c.154TTC[1], XM_011530114.1:c.154TTC[1], XM_011530113.2:c.154TTC[1], XM_011530113.1:c.154TTC[1], XM_017028756.2:c.154TTC[1], XM_017028756.1:c.154TTC[1], XM_017028759.2:c.-29TTC[1], XM_017028759.1:c.-29TTC[1], XM_017028757.2:c.248TTC[1], XM_017028757.1:c.248TTC[1], NM_001195071.1:c.154TTC[1], XM_047441315.1:c.154TTC[1], XM_047441320.1:c.-29TTC[1], XM_047441316.1:c.253TTC[1], XM_047441319.1:c.154TTC[1], NP_036396.2:p.Phe53del, XP_011528417.1:p.Leu84del, XP_011528414.2:p.Phe86del, XP_016884244.1:p.Phe86del, XP_016884243.1:p.Phe86del, XP_011528416.1:p.Phe53del, XP_011528415.1:p.Phe53del, XP_016884245.1:p.Phe53del, XP_016884246.1:p.Leu84del, NP_001182000.1:p.Phe53del, XP_047297271.1:p.Phe53del, XP_047297272.1:p.Phe86del, XP_047297275.1:p.Phe53del

                      11.

                      rs1474801352 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        22:38224798 (GRCh38)
                        22:38620805 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:38224797:C:G
                        Gene:
                        TMEM184B (Varview), SNORA92 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000022.11:g.38224798C>G, NC_000022.10:g.38620805C>G, NM_012264.5:c.969G>C, NM_012264.4:c.969G>C, XM_011530115.4:c.897G>C, XM_011530115.3:c.897G>C, XM_011530115.2:c.897G>C, XM_011530115.1:c.897G>C, XM_011530112.3:c.1068G>C, XM_011530112.2:c.1068G>C, XM_011530112.1:c.969G>C, XM_017028755.2:c.1068G>C, XM_017028755.1:c.1068G>C, XM_017028754.2:c.1068G>C, XM_017028754.1:c.1068G>C, NM_001195072.2:c.771G>C, NM_001195072.1:c.771G>C, XM_011530114.2:c.969G>C, XM_011530114.1:c.969G>C, XM_011530113.2:c.969G>C, XM_011530113.1:c.969G>C, XM_017028756.2:c.969G>C, XM_017028756.1:c.969G>C, XM_017028759.2:c.621G>C, XM_017028759.1:c.621G>C, XM_017028757.2:c.897G>C, XM_017028757.1:c.897G>C, NM_001195071.1:c.969G>C, XM_047441315.1:c.969G>C, XM_047441320.1:c.621G>C, XM_047441317.1:c.771G>C, XM_047441318.1:c.771G>C, XM_047441316.1:c.1068G>C, XM_047441319.1:c.969G>C, NP_036396.2:p.Arg323Ser, XP_011528417.1:p.Arg299Ser, XP_011528414.2:p.Arg356Ser, XP_016884244.1:p.Arg356Ser, XP_016884243.1:p.Arg356Ser, NP_001182001.1:p.Arg257Ser, XP_011528416.1:p.Arg323Ser, XP_011528415.1:p.Arg323Ser, XP_016884245.1:p.Arg323Ser, XP_016884248.1:p.Arg207Ser, XP_016884246.1:p.Arg299Ser, NP_001182000.1:p.Arg323Ser, XP_047297271.1:p.Arg323Ser, XP_047297276.1:p.Arg207Ser, XP_047297273.1:p.Arg257Ser, XP_047297274.1:p.Arg257Ser, XP_047297272.1:p.Arg356Ser, XP_047297275.1:p.Arg323Ser

                        12.

                        rs1474169708 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:38246004 (GRCh38)
                          22:38642010 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:38246003:G:A
                          Gene:
                          TMEM184B (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.38246004G>A, NC_000022.10:g.38642010G>A, NM_012264.5:c.289C>T, NM_012264.4:c.289C>T, XM_011530112.3:c.388C>T, XM_011530112.2:c.388C>T, XM_011530112.1:c.289C>T, XM_017028755.2:c.388C>T, XM_017028755.1:c.388C>T, XM_017028754.2:c.388C>T, XM_017028754.1:c.388C>T, NM_001195072.2:c.91C>T, NM_001195072.1:c.91C>T, XM_011530114.2:c.289C>T, XM_011530114.1:c.289C>T, XM_011530113.2:c.289C>T, XM_011530113.1:c.289C>T, XM_017028756.2:c.289C>T, XM_017028756.1:c.289C>T, NM_001195071.1:c.289C>T, XM_047441315.1:c.289C>T, XM_047441317.1:c.91C>T, XM_047441318.1:c.91C>T, XM_047441316.1:c.388C>T, XM_047441319.1:c.289C>T, NP_036396.2:p.Leu97Phe, XP_011528414.2:p.Leu130Phe, XP_016884244.1:p.Leu130Phe, XP_016884243.1:p.Leu130Phe, NP_001182001.1:p.Leu31Phe, XP_011528416.1:p.Leu97Phe, XP_011528415.1:p.Leu97Phe, XP_016884245.1:p.Leu97Phe, NP_001182000.1:p.Leu97Phe, XP_047297271.1:p.Leu97Phe, XP_047297273.1:p.Leu31Phe, XP_047297274.1:p.Leu31Phe, XP_047297272.1:p.Leu130Phe, XP_047297275.1:p.Leu97Phe

                          13.

                          rs1473523411 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:38226854 (GRCh38)
                            22:38622861 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:38226853:C:T
                            Gene:
                            TMEM184B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000022.11:g.38226854C>T, NC_000022.10:g.38622861C>T, NM_012264.5:c.542G>A, NM_012264.4:c.542G>A, XM_011530115.4:c.470G>A, XM_011530115.3:c.470G>A, XM_011530115.2:c.470G>A, XM_011530115.1:c.470G>A, XM_011530112.3:c.641G>A, XM_011530112.2:c.641G>A, XM_011530112.1:c.542G>A, XM_017028755.2:c.641G>A, XM_017028755.1:c.641G>A, XM_017028754.2:c.641G>A, XM_017028754.1:c.641G>A, NM_001195072.2:c.344G>A, NM_001195072.1:c.344G>A, XM_011530114.2:c.542G>A, XM_011530114.1:c.542G>A, XM_011530113.2:c.542G>A, XM_011530113.1:c.542G>A, XM_017028756.2:c.542G>A, XM_017028756.1:c.542G>A, XM_017028759.2:c.194G>A, XM_017028759.1:c.194G>A, XM_017028757.2:c.470G>A, XM_017028757.1:c.470G>A, NM_001195071.1:c.542G>A, XM_047441315.1:c.542G>A, XM_047441320.1:c.194G>A, XM_047441317.1:c.344G>A, XM_047441318.1:c.344G>A, XM_047441316.1:c.641G>A, XM_047441319.1:c.542G>A, NP_036396.2:p.Cys181Tyr, XP_011528417.1:p.Cys157Tyr, XP_011528414.2:p.Cys214Tyr, XP_016884244.1:p.Cys214Tyr, XP_016884243.1:p.Cys214Tyr, NP_001182001.1:p.Cys115Tyr, XP_011528416.1:p.Cys181Tyr, XP_011528415.1:p.Cys181Tyr, XP_016884245.1:p.Cys181Tyr, XP_016884248.1:p.Cys65Tyr, XP_016884246.1:p.Cys157Tyr, NP_001182000.1:p.Cys181Tyr, XP_047297271.1:p.Cys181Tyr, XP_047297276.1:p.Cys65Tyr, XP_047297273.1:p.Cys115Tyr, XP_047297274.1:p.Cys115Tyr, XP_047297272.1:p.Cys214Tyr, XP_047297275.1:p.Cys181Tyr

                            14.

                            rs1469846944 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:38221649 (GRCh38)
                              22:38617656 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:38221648:G:A
                              Gene:
                              TMEM184B (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant
                              HGVS:
                              NC_000022.11:g.38221649G>A, NC_000022.10:g.38617656G>A, NM_012264.5:c.1044C>T, NM_012264.4:c.1044C>T, XM_011530115.4:c.1008C>T, XM_011530115.3:c.1008C>T, XM_011530115.2:c.1008C>T, XM_011530115.1:c.1008C>T, XM_011530112.3:c.1164C>T, XM_011530112.2:c.1164C>T, XM_011530112.1:c.1065C>T, XM_017028755.2:c.1143C>T, XM_017028755.1:c.1143C>T, XM_017028754.2:c.1179C>T, XM_017028754.1:c.1179C>T, NM_001195072.2:c.846C>T, NM_001195072.1:c.846C>T, XM_011530114.2:c.1080C>T, XM_011530114.1:c.1080C>T, XM_011530113.2:c.1080C>T, XM_011530113.1:c.1080C>T, XM_017028756.2:c.1065C>T, XM_017028756.1:c.1065C>T, XM_017028759.2:c.696C>T, XM_017028759.1:c.696C>T, XM_017028757.2:c.993C>T, XM_017028757.1:c.993C>T, NM_001195071.1:c.1044C>T, XM_047441315.1:c.1080C>T, XM_047441320.1:c.696C>T, XM_047441317.1:c.882C>T, XM_047441318.1:c.882C>T

                              15.

                              rs1469676565 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:38247909 (GRCh38)
                                22:38643915 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:38247908:G:A
                                Gene:
                                TMEM184B (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                HGVS:
                                NC_000022.11:g.38247909G>A, NC_000022.10:g.38643915G>A, NM_012264.5:c.53C>T, NM_012264.4:c.53C>T, XM_011530115.4:c.147C>T, XM_011530115.3:c.147C>T, XM_011530115.2:c.147C>T, XM_011530115.1:c.147C>T, XM_011530112.3:c.152C>T, XM_011530112.2:c.152C>T, XM_011530112.1:c.53C>T, XM_017028755.2:c.152C>T, XM_017028755.1:c.152C>T, XM_017028754.2:c.152C>T, XM_017028754.1:c.152C>T, NM_001195072.2:c.-247C>T, NM_001195072.1:c.-247C>T, XM_011530114.2:c.53C>T, XM_011530114.1:c.53C>T, XM_011530113.2:c.53C>T, XM_011530113.1:c.53C>T, XM_017028756.2:c.53C>T, XM_017028756.1:c.53C>T, XM_017028759.2:c.-130C>T, XM_017028759.1:c.-130C>T, XM_017028757.2:c.147C>T, XM_017028757.1:c.147C>T, NM_001195071.1:c.53C>T, XM_047441315.1:c.53C>T, XM_047441320.1:c.-130C>T, XM_047441316.1:c.152C>T, XM_047441319.1:c.53C>T, NP_036396.2:p.Ala18Val, XP_011528414.2:p.Ala51Val, XP_016884244.1:p.Ala51Val, XP_016884243.1:p.Ala51Val, XP_011528416.1:p.Ala18Val, XP_011528415.1:p.Ala18Val, XP_016884245.1:p.Ala18Val, NP_001182000.1:p.Ala18Val, XP_047297271.1:p.Ala18Val, XP_047297272.1:p.Ala51Val, XP_047297275.1:p.Ala18Val

                                16.

                                rs1469518141 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:38225486 (GRCh38)
                                  22:38621493 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:38225485:G:A
                                  Gene:
                                  TMEM184B (Varview), SNORA92 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000022.11:g.38225486G>A, NC_000022.10:g.38621493G>A, NM_012264.5:c.725C>T, NM_012264.4:c.725C>T, XM_011530115.4:c.653C>T, XM_011530115.3:c.653C>T, XM_011530115.2:c.653C>T, XM_011530115.1:c.653C>T, XM_011530112.3:c.824C>T, XM_011530112.2:c.824C>T, XM_011530112.1:c.725C>T, XM_017028755.2:c.824C>T, XM_017028755.1:c.824C>T, XM_017028754.2:c.824C>T, XM_017028754.1:c.824C>T, NM_001195072.2:c.527C>T, NM_001195072.1:c.527C>T, XM_011530114.2:c.725C>T, XM_011530114.1:c.725C>T, XM_011530113.2:c.725C>T, XM_011530113.1:c.725C>T, XM_017028756.2:c.725C>T, XM_017028756.1:c.725C>T, XM_017028759.2:c.377C>T, XM_017028759.1:c.377C>T, XM_017028757.2:c.653C>T, XM_017028757.1:c.653C>T, NM_001195071.1:c.725C>T, XM_047441315.1:c.725C>T, XM_047441320.1:c.377C>T, XM_047441317.1:c.527C>T, XM_047441318.1:c.527C>T, XM_047441316.1:c.824C>T, XM_047441319.1:c.725C>T, NP_036396.2:p.Pro242Leu, XP_011528417.1:p.Pro218Leu, XP_011528414.2:p.Pro275Leu, XP_016884244.1:p.Pro275Leu, XP_016884243.1:p.Pro275Leu, NP_001182001.1:p.Pro176Leu, XP_011528416.1:p.Pro242Leu, XP_011528415.1:p.Pro242Leu, XP_016884245.1:p.Pro242Leu, XP_016884248.1:p.Pro126Leu, XP_016884246.1:p.Pro218Leu, NP_001182000.1:p.Pro242Leu, XP_047297271.1:p.Pro242Leu, XP_047297276.1:p.Pro126Leu, XP_047297273.1:p.Pro176Leu, XP_047297274.1:p.Pro176Leu, XP_047297272.1:p.Pro275Leu, XP_047297275.1:p.Pro242Leu

                                  17.

                                  rs1463075987 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:38246064 (GRCh38)
                                    22:38642070 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:38246063:C:T
                                    Gene:
                                    TMEM184B (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000022.11:g.38246064C>T, NC_000022.10:g.38642070C>T, NM_012264.5:c.229G>A, NM_012264.4:c.229G>A, XM_011530112.3:c.328G>A, XM_011530112.2:c.328G>A, XM_011530112.1:c.229G>A, XM_017028755.2:c.328G>A, XM_017028755.1:c.328G>A, XM_017028754.2:c.328G>A, XM_017028754.1:c.328G>A, NM_001195072.2:c.31G>A, NM_001195072.1:c.31G>A, XM_011530114.2:c.229G>A, XM_011530114.1:c.229G>A, XM_011530113.2:c.229G>A, XM_011530113.1:c.229G>A, XM_017028756.2:c.229G>A, XM_017028756.1:c.229G>A, NM_001195071.1:c.229G>A, XM_047441315.1:c.229G>A, XM_047441317.1:c.31G>A, XM_047441318.1:c.31G>A, XM_047441316.1:c.328G>A, XM_047441319.1:c.229G>A, NP_036396.2:p.Glu77Lys, XP_011528414.2:p.Glu110Lys, XP_016884244.1:p.Glu110Lys, XP_016884243.1:p.Glu110Lys, NP_001182001.1:p.Glu11Lys, XP_011528416.1:p.Glu77Lys, XP_011528415.1:p.Glu77Lys, XP_016884245.1:p.Glu77Lys, NP_001182000.1:p.Glu77Lys, XP_047297271.1:p.Glu77Lys, XP_047297273.1:p.Glu11Lys, XP_047297274.1:p.Glu11Lys, XP_047297272.1:p.Glu110Lys, XP_047297275.1:p.Glu77Lys

                                    18.

                                    rs1462075266 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      22:38224948 (GRCh38)
                                      22:38620955 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:38224947:C:G,NC_000022.11:38224947:C:T
                                      Gene:
                                      TMEM184B (Varview), SNORA92 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.0005/1 (Korea1K)
                                      HGVS:
                                      NC_000022.11:g.38224948C>G, NC_000022.11:g.38224948C>T, NC_000022.10:g.38620955C>G, NC_000022.10:g.38620955C>T, NM_012264.5:c.819G>C, NM_012264.5:c.819G>A, NM_012264.4:c.819G>C, NM_012264.4:c.819G>A, XM_011530115.4:c.747G>C, XM_011530115.4:c.747G>A, XM_011530115.3:c.747G>C, XM_011530115.3:c.747G>A, XM_011530115.2:c.747G>C, XM_011530115.2:c.747G>A, XM_011530115.1:c.747G>C, XM_011530115.1:c.747G>A, XM_011530112.3:c.918G>C, XM_011530112.3:c.918G>A, XM_011530112.2:c.918G>C, XM_011530112.2:c.918G>A, XM_011530112.1:c.819G>C, XM_011530112.1:c.819G>A, XM_017028755.2:c.918G>C, XM_017028755.2:c.918G>A, XM_017028755.1:c.918G>C, XM_017028755.1:c.918G>A, XM_017028754.2:c.918G>C, XM_017028754.2:c.918G>A, XM_017028754.1:c.918G>C, XM_017028754.1:c.918G>A, NM_001195072.2:c.621G>C, NM_001195072.2:c.621G>A, NM_001195072.1:c.621G>C, NM_001195072.1:c.621G>A, XM_011530114.2:c.819G>C, XM_011530114.2:c.819G>A, XM_011530114.1:c.819G>C, XM_011530114.1:c.819G>A, XM_011530113.2:c.819G>C, XM_011530113.2:c.819G>A, XM_011530113.1:c.819G>C, XM_011530113.1:c.819G>A, XM_017028756.2:c.819G>C, XM_017028756.2:c.819G>A, XM_017028756.1:c.819G>C, XM_017028756.1:c.819G>A, XM_017028759.2:c.471G>C, XM_017028759.2:c.471G>A, XM_017028759.1:c.471G>C, XM_017028759.1:c.471G>A, XM_017028757.2:c.747G>C, XM_017028757.2:c.747G>A, XM_017028757.1:c.747G>C, XM_017028757.1:c.747G>A, NM_001195071.1:c.819G>C, NM_001195071.1:c.819G>A, XM_047441315.1:c.819G>C, XM_047441315.1:c.819G>A, XM_047441320.1:c.471G>C, XM_047441320.1:c.471G>A, XM_047441317.1:c.621G>C, XM_047441317.1:c.621G>A, XM_047441318.1:c.621G>C, XM_047441318.1:c.621G>A, XM_047441316.1:c.918G>C, XM_047441316.1:c.918G>A, XM_047441319.1:c.819G>C, XM_047441319.1:c.819G>A

                                      19.

                                      rs1460853273 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:38247948 (GRCh38)
                                        22:38643954 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:38247947:C:T
                                        Gene:
                                        TMEM184B (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000022.11:g.38247948C>T, NC_000022.10:g.38643954C>T, NM_012264.5:c.14G>A, NM_012264.4:c.14G>A, XM_011530115.4:c.108G>A, XM_011530115.3:c.108G>A, XM_011530115.2:c.108G>A, XM_011530115.1:c.108G>A, XM_011530112.3:c.113G>A, XM_011530112.2:c.113G>A, XM_011530112.1:c.14G>A, XM_017028755.2:c.113G>A, XM_017028755.1:c.113G>A, XM_017028754.2:c.113G>A, XM_017028754.1:c.113G>A, NM_001195072.2:c.-286G>A, NM_001195072.1:c.-286G>A, XM_011530114.2:c.14G>A, XM_011530114.1:c.14G>A, XM_011530113.2:c.14G>A, XM_011530113.1:c.14G>A, XM_017028756.2:c.14G>A, XM_017028756.1:c.14G>A, XM_017028759.2:c.-169G>A, XM_017028759.1:c.-169G>A, XM_017028757.2:c.108G>A, XM_017028757.1:c.108G>A, NM_001195071.1:c.14G>A, XM_047441315.1:c.14G>A, XM_047441320.1:c.-169G>A, XM_047441316.1:c.113G>A, XM_047441319.1:c.14G>A, NP_036396.2:p.Gly5Glu, XP_011528414.2:p.Gly38Glu, XP_016884244.1:p.Gly38Glu, XP_016884243.1:p.Gly38Glu, XP_011528416.1:p.Gly5Glu, XP_011528415.1:p.Gly5Glu, XP_016884245.1:p.Gly5Glu, NP_001182000.1:p.Gly5Glu, XP_047297271.1:p.Gly5Glu, XP_047297272.1:p.Gly38Glu, XP_047297275.1:p.Gly5Glu

                                        20.

                                        rs1456900155 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:38224924 (GRCh38)
                                          22:38620931 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:38224923:G:A
                                          Gene:
                                          TMEM184B (Varview), SNORA92 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000022.11:g.38224924G>A, NC_000022.10:g.38620931G>A, NM_012264.5:c.843C>T, NM_012264.4:c.843C>T, XM_011530115.4:c.771C>T, XM_011530115.3:c.771C>T, XM_011530115.2:c.771C>T, XM_011530115.1:c.771C>T, XM_011530112.3:c.942C>T, XM_011530112.2:c.942C>T, XM_011530112.1:c.843C>T, XM_017028755.2:c.942C>T, XM_017028755.1:c.942C>T, XM_017028754.2:c.942C>T, XM_017028754.1:c.942C>T, NM_001195072.2:c.645C>T, NM_001195072.1:c.645C>T, XM_011530114.2:c.843C>T, XM_011530114.1:c.843C>T, XM_011530113.2:c.843C>T, XM_011530113.1:c.843C>T, XM_017028756.2:c.843C>T, XM_017028756.1:c.843C>T, XM_017028759.2:c.495C>T, XM_017028759.1:c.495C>T, XM_017028757.2:c.771C>T, XM_017028757.1:c.771C>T, NM_001195071.1:c.843C>T, XM_047441315.1:c.843C>T, XM_047441320.1:c.495C>T, XM_047441317.1:c.645C>T, XM_047441318.1:c.645C>T, XM_047441316.1:c.942C>T, XM_047441319.1:c.843C>T

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