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Items: 1 to 20 of 312

1.

rs1489681103 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:29462718 (GRCh38)
    6:29430495 (GRCh37)
    Canonical SPDI:
    NC_000006.12:29462717:T:C
    Gene:
    OR2H1 (Varview)
    Functional Consequence:
    terminator_codon_variant,stop_lost
    HGVS:
    NC_000006.12:g.29462718T>C, NC_000006.11:g.29430495T>C, NT_113891.3:g.949170T>C, NT_113891.2:g.949276T>C, NT_167248.2:g.728184T>C, NT_167248.1:g.733780T>C, NT_167245.2:g.728241T>C, NT_167245.1:g.733826T>C, NT_167249.2:g.771731T>C, NT_167249.1:g.771029T>C, NT_167246.2:g.727843T>C, NT_167246.1:g.733463T>C, NT_167247.2:g.728092T>C, NT_167247.1:g.733677T>C, NT_167244.2:g.728379T>C, NT_167244.1:g.733973T>C, NM_030883.5:c.949T>C, NM_030883.4:c.949T>C, NM_030883.3:c.949T>C, NM_001318014.1:c.949T>C, NM_001318014.2:c.949T>C, XM_017010739.2:c.949T>C, XM_017010739.1:c.949T>C, NM_001318022.2:c.949T>C, NM_001318022.1:c.949T>C, XM_047418644.1:c.715T>C, XM_047418641.1:c.949T>C, XM_047418642.1:c.949T>C, XM_047418646.1:c.715T>C, XM_047418645.1:c.715T>C, XM_047418643.1:c.949T>C, XM_047418640.1:c.949T>C, NP_112145.1:p.Ter317Gln, NP_001304943.1:p.Ter317Gln, XP_016866228.1:p.Ter317Gln, NP_001304951.1:p.Ter317Gln, XP_047274600.1:p.Ter239Gln, XP_047274597.1:p.Ter317Gln, XP_047274598.1:p.Ter317Gln, XP_047274602.1:p.Ter239Gln, XP_047274601.1:p.Ter239Gln, XP_047274599.1:p.Ter317Gln, XP_047274596.1:p.Ter317Gln

    2.

    rs1480809106 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:29461805 (GRCh38)
      6:29429582 (GRCh37)
      Canonical SPDI:
      NC_000006.12:29461804:T:C
      Gene:
      OR2H1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0.000008/2 (GnomAD_exomes)
      HGVS:

      3.

      rs1478757042 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:29462269 (GRCh38)
        6:29430046 (GRCh37)
        Canonical SPDI:
        NC_000006.12:29462268:G:A
        Gene:
        OR2H1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.29462269G>A, NC_000006.11:g.29430046G>A, NT_113891.3:g.948721G>A, NT_113891.2:g.948827G>A, NT_167248.2:g.727735G>A, NT_167248.1:g.733331G>A, NT_167245.2:g.727792G>A, NT_167245.1:g.733377G>A, NT_167249.2:g.771282G>A, NT_167249.1:g.770580G>A, NT_167246.2:g.727394G>A, NT_167246.1:g.733014G>A, NT_167247.2:g.727643G>A, NT_167247.1:g.733228G>A, NT_167244.2:g.727930G>A, NT_167244.1:g.733524G>A, NM_030883.5:c.500G>A, NM_030883.4:c.500G>A, NM_030883.3:c.500G>A, NM_001318014.1:c.500G>A, NM_001318014.2:c.500G>A, XM_017010739.2:c.500G>A, XM_017010739.1:c.500G>A, NM_001318022.2:c.500G>A, NM_001318022.1:c.500G>A, XM_047418644.1:c.266G>A, XM_047418641.1:c.500G>A, XM_047418642.1:c.500G>A, XM_047418645.1:c.266G>A, XM_047418640.1:c.500G>A, XM_047418646.1:c.266G>A, XM_047418643.1:c.500G>A, NP_112145.1:p.Cys167Tyr, NP_001304943.1:p.Cys167Tyr, XP_016866228.1:p.Cys167Tyr, NP_001304951.1:p.Cys167Tyr, XP_047274600.1:p.Cys89Tyr, XP_047274597.1:p.Cys167Tyr, XP_047274598.1:p.Cys167Tyr, XP_047274601.1:p.Cys89Tyr, XP_047274596.1:p.Cys167Tyr, XP_047274602.1:p.Cys89Tyr, XP_047274599.1:p.Cys167Tyr

        4.

        rs1471170767 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          6:29461930 (GRCh38)
          6:29429707 (GRCh37)
          Canonical SPDI:
          NC_000006.12:29461929:A:G
          Gene:
          OR2H1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000056/2 (ALFA)
          G=0.000016/4 (GnomAD_exomes)
          G=0.000019/5 (TOPMED)
          G=0.000022/3 (GnomAD)
          HGVS:
          NC_000006.12:g.29461930A>G, NC_000006.11:g.29429707A>G, NT_113891.3:g.948382A>G, NT_113891.2:g.948488A>G, NT_167248.2:g.727396A>G, NT_167248.1:g.732992A>G, NT_167245.2:g.727453A>G, NT_167245.1:g.733038A>G, NT_167249.2:g.770943A>G, NT_167249.1:g.770241A>G, NT_167246.2:g.727055A>G, NT_167246.1:g.732675A>G, NT_167247.2:g.727304A>G, NT_167247.1:g.732889A>G, NT_167244.2:g.727591A>G, NT_167244.1:g.733185A>G, NM_030883.5:c.161A>G, NM_030883.4:c.161A>G, NM_030883.3:c.161A>G, NM_001318014.1:c.161A>G, NM_001318014.2:c.161A>G, XM_017010739.2:c.161A>G, XM_017010739.1:c.161A>G, NM_001318022.2:c.161A>G, NM_001318022.1:c.161A>G, XM_047418641.1:c.161A>G, XM_047418642.1:c.161A>G, XM_047418643.1:c.161A>G, XM_047418640.1:c.161A>G, NP_112145.1:p.His54Arg, NP_001304943.1:p.His54Arg, XP_016866228.1:p.His54Arg, NP_001304951.1:p.His54Arg, XP_047274597.1:p.His54Arg, XP_047274598.1:p.His54Arg, XP_047274599.1:p.His54Arg, XP_047274596.1:p.His54Arg

          5.

          rs1461914901 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            6:29461779 (GRCh38)
            6:29429556 (GRCh37)
            Canonical SPDI:
            NC_000006.12:29461778:C:A
            Gene:
            OR2H1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.29461779C>A, NC_000006.11:g.29429556C>A, NT_113891.3:g.948231C>A, NT_113891.2:g.948337C>A, NT_167248.2:g.727245C>A, NT_167248.1:g.732841C>A, NT_167245.2:g.727302C>A, NT_167245.1:g.732887C>A, NT_167249.2:g.770792C>A, NT_167249.1:g.770090C>A, NT_167246.2:g.726904C>A, NT_167246.1:g.732524C>A, NT_167247.2:g.727153C>A, NT_167247.1:g.732738C>A, NT_167244.2:g.727440C>A, NT_167244.1:g.733034C>A, NM_030883.5:c.10C>A, NM_030883.4:c.10C>A, NM_030883.3:c.10C>A, XM_017010739.2:c.10C>A, XM_017010739.1:c.10C>A, NM_001318014.2:c.10C>A, NM_001318014.1:c.10C>A, NM_001318022.2:c.10C>A, NM_001318022.1:c.10C>A, XM_047418642.1:c.10C>A, XM_047418643.1:c.10C>A, XM_047418641.1:c.10C>A, XM_047418640.1:c.10C>A, NP_112145.1:p.Gln4Lys, XP_016866228.1:p.Gln4Lys, NP_001304943.1:p.Gln4Lys, NP_001304951.1:p.Gln4Lys, XP_047274598.1:p.Gln4Lys, XP_047274599.1:p.Gln4Lys, XP_047274597.1:p.Gln4Lys, XP_047274596.1:p.Gln4Lys

            6.

            rs1460589214 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              6:29462198 (GRCh38)
              6:29429975 (GRCh37)
              Canonical SPDI:
              NC_000006.12:29462197:A:G,NC_000006.12:29462197:A:T
              Gene:
              OR2H1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000006.12:g.29462198A>G, NC_000006.12:g.29462198A>T, NC_000006.11:g.29429975A>G, NC_000006.11:g.29429975A>T, NT_113891.3:g.948650A>G, NT_113891.3:g.948650A>T, NT_113891.2:g.948756A>G, NT_113891.2:g.948756A>T, NT_167248.2:g.727664A>G, NT_167248.2:g.727664A>T, NT_167248.1:g.733260A>G, NT_167248.1:g.733260A>T, NT_167245.2:g.727721A>G, NT_167245.2:g.727721A>T, NT_167245.1:g.733306A>G, NT_167245.1:g.733306A>T, NT_167249.2:g.771211A>G, NT_167249.2:g.771211A>T, NT_167249.1:g.770509A>G, NT_167249.1:g.770509A>T, NT_167246.2:g.727323A>G, NT_167246.2:g.727323A>T, NT_167246.1:g.732943A>G, NT_167246.1:g.732943A>T, NT_167247.2:g.727572A>G, NT_167247.2:g.727572A>T, NT_167247.1:g.733157A>G, NT_167247.1:g.733157A>T, NT_167244.2:g.727859A>G, NT_167244.2:g.727859A>T, NT_167244.1:g.733453A>G, NT_167244.1:g.733453A>T, NM_030883.5:c.429A>G, NM_030883.5:c.429A>T, NM_030883.4:c.429A>G, NM_030883.4:c.429A>T, NM_030883.3:c.429A>G, NM_030883.3:c.429A>T, XM_017010739.2:c.429A>G, XM_017010739.2:c.429A>T, XM_017010739.1:c.429A>G, XM_017010739.1:c.429A>T, NM_001318014.2:c.429A>G, NM_001318014.2:c.429A>T, NM_001318014.1:c.429A>G, NM_001318014.1:c.429A>T, NM_001318022.2:c.429A>G, NM_001318022.2:c.429A>T, NM_001318022.1:c.429A>G, NM_001318022.1:c.429A>T, XM_047418644.1:c.195A>G, XM_047418644.1:c.195A>T, XM_047418641.1:c.429A>G, XM_047418641.1:c.429A>T, XM_047418642.1:c.429A>G, XM_047418642.1:c.429A>T, XM_047418645.1:c.195A>G, XM_047418645.1:c.195A>T, XM_047418640.1:c.429A>G, XM_047418640.1:c.429A>T, XM_047418646.1:c.195A>G, XM_047418646.1:c.195A>T, XM_047418643.1:c.429A>G, XM_047418643.1:c.429A>T

              7.

              rs1454245504 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                6:29461851 (GRCh38)
                6:29429628 (GRCh37)
                Canonical SPDI:
                NC_000006.12:29461850:G:C
                Gene:
                OR2H1 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.29461851G>C, NC_000006.11:g.29429628G>C, NT_113891.3:g.948303G>C, NT_113891.2:g.948409G>C, NT_167248.2:g.727317G>C, NT_167248.1:g.732913G>C, NT_167245.2:g.727374G>C, NT_167245.1:g.732959G>C, NT_167249.2:g.770864G>C, NT_167249.1:g.770162G>C, NT_167246.2:g.726976G>C, NT_167246.1:g.732596G>C, NT_167247.2:g.727225G>C, NT_167247.1:g.732810G>C, NT_167244.2:g.727512G>C, NT_167244.1:g.733106G>C, NM_030883.5:c.82G>C, NM_030883.4:c.82G>C, NM_030883.3:c.82G>C, NM_001318014.1:c.82G>C, NM_001318014.2:c.82G>C, XM_017010739.2:c.82G>C, XM_017010739.1:c.82G>C, NM_001318022.2:c.82G>C, NM_001318022.1:c.82G>C, XM_047418641.1:c.82G>C, XM_047418642.1:c.82G>C, XM_047418640.1:c.82G>C, XM_047418643.1:c.82G>C, NP_112145.1:p.Val28Leu, NP_001304943.1:p.Val28Leu, XP_016866228.1:p.Val28Leu, NP_001304951.1:p.Val28Leu, XP_047274597.1:p.Val28Leu, XP_047274598.1:p.Val28Leu, XP_047274596.1:p.Val28Leu, XP_047274599.1:p.Val28Leu

                8.

                rs1454042965 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  6:29462112 (GRCh38)
                  6:29429889 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:29462111:G:A,NC_000006.12:29462111:G:T
                  Gene:
                  OR2H1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.29462112G>A, NC_000006.12:g.29462112G>T, NC_000006.11:g.29429889G>A, NC_000006.11:g.29429889G>T, NT_113891.3:g.948564G>A, NT_113891.3:g.948564G>T, NT_113891.2:g.948670G>A, NT_113891.2:g.948670G>T, NT_167248.2:g.727578G>A, NT_167248.2:g.727578G>T, NT_167248.1:g.733174G>A, NT_167248.1:g.733174G>T, NT_167245.2:g.727635G>A, NT_167245.2:g.727635G>T, NT_167245.1:g.733220G>A, NT_167245.1:g.733220G>T, NT_167249.2:g.771125G>A, NT_167249.2:g.771125G>T, NT_167249.1:g.770423G>A, NT_167249.1:g.770423G>T, NT_167246.2:g.727237G>A, NT_167246.2:g.727237G>T, NT_167246.1:g.732857G>A, NT_167246.1:g.732857G>T, NT_167247.2:g.727486G>A, NT_167247.2:g.727486G>T, NT_167247.1:g.733071G>A, NT_167247.1:g.733071G>T, NT_167244.2:g.727773G>A, NT_167244.2:g.727773G>T, NT_167244.1:g.733367G>A, NT_167244.1:g.733367G>T, NM_030883.5:c.343G>A, NM_030883.5:c.343G>T, NM_030883.4:c.343G>A, NM_030883.4:c.343G>T, NM_030883.3:c.343G>A, NM_030883.3:c.343G>T, NM_001318014.1:c.343G>A, NM_001318014.1:c.343G>T, NM_001318014.2:c.343G>A, NM_001318014.2:c.343G>T, XM_017010739.2:c.343G>A, XM_017010739.2:c.343G>T, XM_017010739.1:c.343G>A, XM_017010739.1:c.343G>T, NM_001318022.2:c.343G>A, NM_001318022.2:c.343G>T, NM_001318022.1:c.343G>A, NM_001318022.1:c.343G>T, XM_047418644.1:c.109G>A, XM_047418644.1:c.109G>T, XM_047418641.1:c.343G>A, XM_047418641.1:c.343G>T, XM_047418642.1:c.343G>A, XM_047418642.1:c.343G>T, XM_047418646.1:c.109G>A, XM_047418646.1:c.109G>T, XM_047418645.1:c.109G>A, XM_047418645.1:c.109G>T, XM_047418643.1:c.343G>A, XM_047418643.1:c.343G>T, XM_047418640.1:c.343G>A, XM_047418640.1:c.343G>T, NP_112145.1:p.Val115Met, NP_112145.1:p.Val115Leu, NP_001304943.1:p.Val115Met, NP_001304943.1:p.Val115Leu, XP_016866228.1:p.Val115Met, XP_016866228.1:p.Val115Leu, NP_001304951.1:p.Val115Met, NP_001304951.1:p.Val115Leu, XP_047274600.1:p.Val37Met, XP_047274600.1:p.Val37Leu, XP_047274597.1:p.Val115Met, XP_047274597.1:p.Val115Leu, XP_047274598.1:p.Val115Met, XP_047274598.1:p.Val115Leu, XP_047274602.1:p.Val37Met, XP_047274602.1:p.Val37Leu, XP_047274601.1:p.Val37Met, XP_047274601.1:p.Val37Leu, XP_047274599.1:p.Val115Met, XP_047274599.1:p.Val115Leu, XP_047274596.1:p.Val115Met, XP_047274596.1:p.Val115Leu

                  9.

                  rs1453814203 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:29462089 (GRCh38)
                    6:29429866 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:29462088:C:T
                    Gene:
                    OR2H1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.29462089C>T, NC_000006.11:g.29429866C>T, NT_113891.3:g.948541C>T, NT_113891.2:g.948647C>T, NT_167248.2:g.727555C>T, NT_167248.1:g.733151C>T, NT_167245.2:g.727612C>T, NT_167245.1:g.733197C>T, NT_167249.2:g.771102C>T, NT_167249.1:g.770400C>T, NT_167246.2:g.727214C>T, NT_167246.1:g.732834C>T, NT_167247.2:g.727463C>T, NT_167247.1:g.733048C>T, NT_167244.2:g.727750C>T, NT_167244.1:g.733344C>T, NM_030883.5:c.320C>T, NM_030883.4:c.320C>T, NM_030883.3:c.320C>T, NM_001318014.1:c.320C>T, NM_001318014.2:c.320C>T, XM_017010739.2:c.320C>T, XM_017010739.1:c.320C>T, NM_001318022.2:c.320C>T, NM_001318022.1:c.320C>T, XM_047418644.1:c.86C>T, XM_047418641.1:c.320C>T, XM_047418642.1:c.320C>T, XM_047418646.1:c.86C>T, XM_047418645.1:c.86C>T, XM_047418643.1:c.320C>T, XM_047418640.1:c.320C>T, NP_112145.1:p.Thr107Ile, NP_001304943.1:p.Thr107Ile, XP_016866228.1:p.Thr107Ile, NP_001304951.1:p.Thr107Ile, XP_047274600.1:p.Thr29Ile, XP_047274597.1:p.Thr107Ile, XP_047274598.1:p.Thr107Ile, XP_047274602.1:p.Thr29Ile, XP_047274601.1:p.Thr29Ile, XP_047274599.1:p.Thr107Ile, XP_047274596.1:p.Thr107Ile

                    10.

                    rs1452185778 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      6:29462308 (GRCh38)
                      6:29430085 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:29462307:C:A,NC_000006.12:29462307:C:T
                      Gene:
                      OR2H1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000006.12:g.29462308C>A, NC_000006.12:g.29462308C>T, NC_000006.11:g.29430085C>A, NC_000006.11:g.29430085C>T, NT_113891.3:g.948760C>A, NT_113891.3:g.948760C>T, NT_113891.2:g.948866C>A, NT_113891.2:g.948866C>T, NT_167248.2:g.727774C>A, NT_167248.2:g.727774C>T, NT_167248.1:g.733370C>A, NT_167248.1:g.733370C>T, NT_167245.2:g.727831C>A, NT_167245.2:g.727831C>T, NT_167245.1:g.733416C>A, NT_167245.1:g.733416C>T, NT_167249.2:g.771321C>A, NT_167249.2:g.771321C>T, NT_167249.1:g.770619C>A, NT_167249.1:g.770619C>T, NT_167246.2:g.727433C>A, NT_167246.2:g.727433C>T, NT_167246.1:g.733053C>A, NT_167246.1:g.733053C>T, NT_167247.2:g.727682C>A, NT_167247.2:g.727682C>T, NT_167247.1:g.733267C>A, NT_167247.1:g.733267C>T, NT_167244.2:g.727969C>A, NT_167244.2:g.727969C>T, NT_167244.1:g.733563C>A, NT_167244.1:g.733563C>T, NM_030883.5:c.539C>A, NM_030883.5:c.539C>T, NM_030883.4:c.539C>A, NM_030883.4:c.539C>T, NM_030883.3:c.539C>A, NM_030883.3:c.539C>T, NM_001318014.1:c.539C>A, NM_001318014.1:c.539C>T, NM_001318014.2:c.539C>A, NM_001318014.2:c.539C>T, XM_017010739.2:c.539C>A, XM_017010739.2:c.539C>T, XM_017010739.1:c.539C>A, XM_017010739.1:c.539C>T, NM_001318022.2:c.539C>A, NM_001318022.2:c.539C>T, NM_001318022.1:c.539C>A, NM_001318022.1:c.539C>T, XM_047418644.1:c.305C>A, XM_047418644.1:c.305C>T, XM_047418641.1:c.539C>A, XM_047418641.1:c.539C>T, XM_047418642.1:c.539C>A, XM_047418642.1:c.539C>T, XM_047418645.1:c.305C>A, XM_047418645.1:c.305C>T, XM_047418640.1:c.539C>A, XM_047418640.1:c.539C>T, XM_047418646.1:c.305C>A, XM_047418646.1:c.305C>T, XM_047418643.1:c.539C>A, XM_047418643.1:c.539C>T, NP_112145.1:p.Pro180Gln, NP_112145.1:p.Pro180Leu, NP_001304943.1:p.Pro180Gln, NP_001304943.1:p.Pro180Leu, XP_016866228.1:p.Pro180Gln, XP_016866228.1:p.Pro180Leu, NP_001304951.1:p.Pro180Gln, NP_001304951.1:p.Pro180Leu, XP_047274600.1:p.Pro102Gln, XP_047274600.1:p.Pro102Leu, XP_047274597.1:p.Pro180Gln, XP_047274597.1:p.Pro180Leu, XP_047274598.1:p.Pro180Gln, XP_047274598.1:p.Pro180Leu, XP_047274601.1:p.Pro102Gln, XP_047274601.1:p.Pro102Leu, XP_047274596.1:p.Pro180Gln, XP_047274596.1:p.Pro180Leu, XP_047274602.1:p.Pro102Gln, XP_047274602.1:p.Pro102Leu, XP_047274599.1:p.Pro180Gln, XP_047274599.1:p.Pro180Leu

                      11.

                      rs1447718078 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:29462068 (GRCh38)
                        6:29429845 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:29462067:T:C
                        Gene:
                        OR2H1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000006.12:g.29462068T>C, NC_000006.11:g.29429845T>C, NT_113891.3:g.948520T>C, NT_113891.2:g.948626T>C, NT_167248.2:g.727534T>C, NT_167248.1:g.733130T>C, NT_167245.2:g.727591T>C, NT_167245.1:g.733176T>C, NT_167249.2:g.771081T>C, NT_167249.1:g.770379T>C, NT_167246.2:g.727193T>C, NT_167246.1:g.732813T>C, NT_167247.2:g.727442T>C, NT_167247.1:g.733027T>C, NT_167244.2:g.727729T>C, NT_167244.1:g.733323T>C, NM_030883.5:c.299T>C, NM_030883.4:c.299T>C, NM_030883.3:c.299T>C, NM_001318014.1:c.299T>C, NM_001318014.2:c.299T>C, XM_017010739.2:c.299T>C, XM_017010739.1:c.299T>C, NM_001318022.2:c.299T>C, NM_001318022.1:c.299T>C, XM_047418644.1:c.65T>C, XM_047418641.1:c.299T>C, XM_047418642.1:c.299T>C, XM_047418646.1:c.65T>C, XM_047418645.1:c.65T>C, XM_047418643.1:c.299T>C, XM_047418640.1:c.299T>C, NP_112145.1:p.Phe100Ser, NP_001304943.1:p.Phe100Ser, XP_016866228.1:p.Phe100Ser, NP_001304951.1:p.Phe100Ser, XP_047274600.1:p.Phe22Ser, XP_047274597.1:p.Phe100Ser, XP_047274598.1:p.Phe100Ser, XP_047274602.1:p.Phe22Ser, XP_047274601.1:p.Phe22Ser, XP_047274599.1:p.Phe100Ser, XP_047274596.1:p.Phe100Ser

                        12.

                        rs1447134494 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          6:29462478 (GRCh38)
                          6:29430255 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:29462477:G:A,NC_000006.12:29462477:G:C
                          Gene:
                          OR2H1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          C=0.000012/3 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.29462478G>A, NC_000006.12:g.29462478G>C, NC_000006.11:g.29430255G>A, NC_000006.11:g.29430255G>C, NT_113891.3:g.948930G>A, NT_113891.3:g.948930G>C, NT_113891.2:g.949036G>A, NT_113891.2:g.949036G>C, NT_167248.2:g.727944G>A, NT_167248.2:g.727944G>C, NT_167248.1:g.733540G>A, NT_167248.1:g.733540G>C, NT_167245.2:g.728001G>A, NT_167245.2:g.728001G>C, NT_167245.1:g.733586G>A, NT_167245.1:g.733586G>C, NT_167249.2:g.771491G>A, NT_167249.2:g.771491G>C, NT_167249.1:g.770789G>A, NT_167249.1:g.770789G>C, NT_167246.2:g.727603G>A, NT_167246.2:g.727603G>C, NT_167246.1:g.733223G>A, NT_167246.1:g.733223G>C, NT_167247.2:g.727852G>A, NT_167247.2:g.727852G>C, NT_167247.1:g.733437G>A, NT_167247.1:g.733437G>C, NT_167244.2:g.728139G>A, NT_167244.2:g.728139G>C, NT_167244.1:g.733733G>A, NT_167244.1:g.733733G>C, NM_030883.5:c.709G>A, NM_030883.5:c.709G>C, NM_030883.4:c.709G>A, NM_030883.4:c.709G>C, NM_030883.3:c.709G>A, NM_030883.3:c.709G>C, XM_017010739.2:c.709G>A, XM_017010739.2:c.709G>C, XM_017010739.1:c.709G>A, XM_017010739.1:c.709G>C, NM_001318014.2:c.709G>A, NM_001318014.2:c.709G>C, NM_001318014.1:c.709G>A, NM_001318014.1:c.709G>C, NM_001318022.2:c.709G>A, NM_001318022.2:c.709G>C, NM_001318022.1:c.709G>A, NM_001318022.1:c.709G>C, XM_047418644.1:c.475G>A, XM_047418644.1:c.475G>C, XM_047418642.1:c.709G>A, XM_047418642.1:c.709G>C, XM_047418645.1:c.475G>A, XM_047418645.1:c.475G>C, XM_047418643.1:c.709G>A, XM_047418643.1:c.709G>C, XM_047418641.1:c.709G>A, XM_047418641.1:c.709G>C, XM_047418640.1:c.709G>A, XM_047418640.1:c.709G>C, XM_047418646.1:c.475G>A, XM_047418646.1:c.475G>C, NP_112145.1:p.Gly237Arg, NP_112145.1:p.Gly237Arg, XP_016866228.1:p.Gly237Arg, XP_016866228.1:p.Gly237Arg, NP_001304943.1:p.Gly237Arg, NP_001304943.1:p.Gly237Arg, NP_001304951.1:p.Gly237Arg, NP_001304951.1:p.Gly237Arg, XP_047274600.1:p.Gly159Arg, XP_047274600.1:p.Gly159Arg, XP_047274598.1:p.Gly237Arg, XP_047274598.1:p.Gly237Arg, XP_047274601.1:p.Gly159Arg, XP_047274601.1:p.Gly159Arg, XP_047274599.1:p.Gly237Arg, XP_047274599.1:p.Gly237Arg, XP_047274597.1:p.Gly237Arg, XP_047274597.1:p.Gly237Arg, XP_047274596.1:p.Gly237Arg, XP_047274596.1:p.Gly237Arg, XP_047274602.1:p.Gly159Arg, XP_047274602.1:p.Gly159Arg

                          13.

                          rs1442525888 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            6:29462129 (GRCh38)
                            6:29429906 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:29462128:A:G,NC_000006.12:29462128:A:T
                            Gene:
                            OR2H1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000006.12:g.29462129A>G, NC_000006.12:g.29462129A>T, NC_000006.11:g.29429906A>G, NC_000006.11:g.29429906A>T, NT_113891.3:g.948581A>G, NT_113891.3:g.948581A>T, NT_113891.2:g.948687A>G, NT_113891.2:g.948687A>T, NT_167248.2:g.727595A>G, NT_167248.2:g.727595A>T, NT_167248.1:g.733191A>G, NT_167248.1:g.733191A>T, NT_167245.2:g.727652A>G, NT_167245.2:g.727652A>T, NT_167245.1:g.733237A>G, NT_167245.1:g.733237A>T, NT_167249.2:g.771142A>G, NT_167249.2:g.771142A>T, NT_167249.1:g.770440A>G, NT_167249.1:g.770440A>T, NT_167246.2:g.727254A>G, NT_167246.2:g.727254A>T, NT_167246.1:g.732874A>G, NT_167246.1:g.732874A>T, NT_167247.2:g.727503A>G, NT_167247.2:g.727503A>T, NT_167247.1:g.733088A>G, NT_167247.1:g.733088A>T, NT_167244.2:g.727790A>G, NT_167244.2:g.727790A>T, NT_167244.1:g.733384A>G, NT_167244.1:g.733384A>T, NM_030883.5:c.360A>G, NM_030883.5:c.360A>T, NM_030883.4:c.360A>G, NM_030883.4:c.360A>T, NM_030883.3:c.360A>G, NM_030883.3:c.360A>T, NM_001318014.1:c.360A>G, NM_001318014.1:c.360A>T, NM_001318014.2:c.360A>G, NM_001318014.2:c.360A>T, XM_017010739.2:c.360A>G, XM_017010739.2:c.360A>T, XM_017010739.1:c.360A>G, XM_017010739.1:c.360A>T, NM_001318022.2:c.360A>G, NM_001318022.2:c.360A>T, NM_001318022.1:c.360A>G, NM_001318022.1:c.360A>T, XM_047418644.1:c.126A>G, XM_047418644.1:c.126A>T, XM_047418641.1:c.360A>G, XM_047418641.1:c.360A>T, XM_047418642.1:c.360A>G, XM_047418642.1:c.360A>T, XM_047418646.1:c.126A>G, XM_047418646.1:c.126A>T, XM_047418645.1:c.126A>G, XM_047418645.1:c.126A>T, XM_047418643.1:c.360A>G, XM_047418643.1:c.360A>T, XM_047418640.1:c.360A>G, XM_047418640.1:c.360A>T

                            14.

                            rs1432179831 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              6:29462358 (GRCh38)
                              6:29430135 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:29462357:T:C,NC_000006.12:29462357:T:G
                              Gene:
                              OR2H1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000006.12:g.29462358T>C, NC_000006.12:g.29462358T>G, NC_000006.11:g.29430135T>C, NC_000006.11:g.29430135T>G, NT_113891.3:g.948810T>C, NT_113891.3:g.948810T>G, NT_113891.2:g.948916T>C, NT_113891.2:g.948916T>G, NT_167248.2:g.727824T>C, NT_167248.2:g.727824T>G, NT_167248.1:g.733420T>C, NT_167248.1:g.733420T>G, NT_167245.2:g.727881T>C, NT_167245.2:g.727881T>G, NT_167245.1:g.733466T>C, NT_167245.1:g.733466T>G, NT_167249.2:g.771371T>C, NT_167249.2:g.771371T>G, NT_167249.1:g.770669T>C, NT_167249.1:g.770669T>G, NT_167246.2:g.727483T>C, NT_167246.2:g.727483T>G, NT_167246.1:g.733103T>C, NT_167246.1:g.733103T>G, NT_167247.2:g.727732T>C, NT_167247.2:g.727732T>G, NT_167247.1:g.733317T>C, NT_167247.1:g.733317T>G, NT_167244.2:g.728019T>C, NT_167244.2:g.728019T>G, NT_167244.1:g.733613T>C, NT_167244.1:g.733613T>G, NM_030883.5:c.589T>C, NM_030883.5:c.589T>G, NM_030883.4:c.589T>C, NM_030883.4:c.589T>G, NM_030883.3:c.589T>C, NM_030883.3:c.589T>G, NM_001318014.1:c.589T>C, NM_001318014.1:c.589T>G, NM_001318014.2:c.589T>C, NM_001318014.2:c.589T>G, XM_017010739.2:c.589T>C, XM_017010739.2:c.589T>G, XM_017010739.1:c.589T>C, XM_017010739.1:c.589T>G, NM_001318022.2:c.589T>C, NM_001318022.2:c.589T>G, NM_001318022.1:c.589T>C, NM_001318022.1:c.589T>G, XM_047418644.1:c.355T>C, XM_047418644.1:c.355T>G, XM_047418641.1:c.589T>C, XM_047418641.1:c.589T>G, XM_047418642.1:c.589T>C, XM_047418642.1:c.589T>G, XM_047418645.1:c.355T>C, XM_047418645.1:c.355T>G, XM_047418640.1:c.589T>C, XM_047418640.1:c.589T>G, XM_047418646.1:c.355T>C, XM_047418646.1:c.355T>G, XM_047418643.1:c.589T>C, XM_047418643.1:c.589T>G, NP_112145.1:p.Leu197Val, NP_001304943.1:p.Leu197Val, XP_016866228.1:p.Leu197Val, NP_001304951.1:p.Leu197Val, XP_047274600.1:p.Leu119Val, XP_047274597.1:p.Leu197Val, XP_047274598.1:p.Leu197Val, XP_047274601.1:p.Leu119Val, XP_047274596.1:p.Leu197Val, XP_047274602.1:p.Leu119Val, XP_047274599.1:p.Leu197Val

                              15.

                              rs1430109506 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:29462062 (GRCh38)
                                6:29429839 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:29462061:A:G
                                Gene:
                                OR2H1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000006.12:g.29462062A>G, NC_000006.11:g.29429839A>G, NT_113891.3:g.948514A>G, NT_113891.2:g.948620A>G, NT_167248.2:g.727528A>G, NT_167248.1:g.733124A>G, NT_167245.2:g.727585A>G, NT_167245.1:g.733170A>G, NT_167249.2:g.771075A>G, NT_167249.1:g.770373A>G, NT_167246.2:g.727187A>G, NT_167246.1:g.732807A>G, NT_167247.2:g.727436A>G, NT_167247.1:g.733021A>G, NT_167244.2:g.727723A>G, NT_167244.1:g.733317A>G, NM_030883.5:c.293A>G, NM_030883.4:c.293A>G, NM_030883.3:c.293A>G, XM_017010739.2:c.293A>G, XM_017010739.1:c.293A>G, NM_001318014.2:c.293A>G, NM_001318014.1:c.293A>G, NM_001318022.2:c.293A>G, NM_001318022.1:c.293A>G, XM_047418644.1:c.59A>G, XM_047418641.1:c.293A>G, XM_047418642.1:c.293A>G, XM_047418645.1:c.59A>G, XM_047418640.1:c.293A>G, XM_047418646.1:c.59A>G, XM_047418643.1:c.293A>G, NP_112145.1:p.Gln98Arg, XP_016866228.1:p.Gln98Arg, NP_001304943.1:p.Gln98Arg, NP_001304951.1:p.Gln98Arg, XP_047274600.1:p.Gln20Arg, XP_047274597.1:p.Gln98Arg, XP_047274598.1:p.Gln98Arg, XP_047274601.1:p.Gln20Arg, XP_047274596.1:p.Gln98Arg, XP_047274602.1:p.Gln20Arg, XP_047274599.1:p.Gln98Arg

                                16.

                                rs1428008746 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  6:29461829 (GRCh38)
                                  6:29429606 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:29461828:A:G,NC_000006.12:29461828:A:T
                                  Gene:
                                  OR2H1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.29461829A>G, NC_000006.12:g.29461829A>T, NC_000006.11:g.29429606A>G, NC_000006.11:g.29429606A>T, NT_113891.3:g.948281A>G, NT_113891.3:g.948281A>T, NT_113891.2:g.948387A>G, NT_113891.2:g.948387A>T, NT_167248.2:g.727295A>G, NT_167248.2:g.727295A>T, NT_167248.1:g.732891A>G, NT_167248.1:g.732891A>T, NT_167245.2:g.727352A>G, NT_167245.2:g.727352A>T, NT_167245.1:g.732937A>G, NT_167245.1:g.732937A>T, NT_167249.2:g.770842A>G, NT_167249.2:g.770842A>T, NT_167249.1:g.770140A>G, NT_167249.1:g.770140A>T, NT_167246.2:g.726954A>G, NT_167246.2:g.726954A>T, NT_167246.1:g.732574A>G, NT_167246.1:g.732574A>T, NT_167247.2:g.727203A>G, NT_167247.2:g.727203A>T, NT_167247.1:g.732788A>G, NT_167247.1:g.732788A>T, NT_167244.2:g.727490A>G, NT_167244.2:g.727490A>T, NT_167244.1:g.733084A>G, NT_167244.1:g.733084A>T, NM_030883.5:c.60A>G, NM_030883.5:c.60A>T, NM_030883.4:c.60A>G, NM_030883.4:c.60A>T, NM_030883.3:c.60A>G, NM_030883.3:c.60A>T, XM_017010739.2:c.60A>G, XM_017010739.2:c.60A>T, XM_017010739.1:c.60A>G, XM_017010739.1:c.60A>T, NM_001318014.2:c.60A>G, NM_001318014.2:c.60A>T, NM_001318014.1:c.60A>G, NM_001318014.1:c.60A>T, NM_001318022.2:c.60A>G, NM_001318022.2:c.60A>T, NM_001318022.1:c.60A>G, NM_001318022.1:c.60A>T, XM_047418641.1:c.60A>G, XM_047418641.1:c.60A>T, XM_047418642.1:c.60A>G, XM_047418642.1:c.60A>T, XM_047418640.1:c.60A>G, XM_047418640.1:c.60A>T, XM_047418643.1:c.60A>G, XM_047418643.1:c.60A>T

                                  17.

                                  rs1422436711 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    6:29462212 (GRCh38)
                                    6:29429989 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:29462211:TT:T
                                    Gene:
                                    OR2H1 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TT=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.29462213del, NC_000006.11:g.29429990del, NT_113891.3:g.948665del, NT_113891.2:g.948771del, NT_167248.2:g.727679del, NT_167248.1:g.733275del, NT_167245.2:g.727736del, NT_167245.1:g.733321del, NT_167249.2:g.771226del, NT_167249.1:g.770524del, NT_167246.2:g.727338del, NT_167246.1:g.732958del, NT_167247.2:g.727587del, NT_167247.1:g.733172del, NT_167244.2:g.727874del, NT_167244.1:g.733468del, NM_030883.5:c.444del, NM_030883.4:c.444del, NM_030883.3:c.444del, XM_017010739.2:c.444del, XM_017010739.1:c.444del, NM_001318014.2:c.444del, NM_001318014.1:c.444del, NM_001318022.2:c.444del, NM_001318022.1:c.444del, XM_047418644.1:c.210del, XM_047418642.1:c.444del, XM_047418646.1:c.210del, XM_047418645.1:c.210del, XM_047418643.1:c.444del, XM_047418641.1:c.444del, XM_047418640.1:c.444del, NP_112145.1:p.Val148_Met149insTer, XP_016866228.1:p.Val148_Met149insTer, NP_001304943.1:p.Val148_Met149insTer, NP_001304951.1:p.Val148_Met149insTer, XP_047274600.1:p.Val70_Met71insTer, XP_047274598.1:p.Val148_Met149insTer, XP_047274602.1:p.Val70_Met71insTer, XP_047274601.1:p.Val70_Met71insTer, XP_047274599.1:p.Val148_Met149insTer, XP_047274597.1:p.Val148_Met149insTer, XP_047274596.1:p.Val148_Met149insTer

                                    18.

                                    rs1416927752 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:29462004 (GRCh38)
                                      6:29429781 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:29462003:A:G
                                      Gene:
                                      OR2H1 (Varview)
                                      Functional Consequence:
                                      missense_variant,initiator_codon_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.29462004A>G, NC_000006.11:g.29429781A>G, NT_113891.3:g.948456A>G, NT_113891.2:g.948562A>G, NT_167248.2:g.727470A>G, NT_167248.1:g.733066A>G, NT_167245.2:g.727527A>G, NT_167245.1:g.733112A>G, NT_167249.2:g.771017A>G, NT_167249.1:g.770315A>G, NT_167246.2:g.727129A>G, NT_167246.1:g.732749A>G, NT_167247.2:g.727378A>G, NT_167247.1:g.732963A>G, NT_167244.2:g.727665A>G, NT_167244.1:g.733259A>G, NM_030883.5:c.235A>G, NM_030883.4:c.235A>G, NM_030883.3:c.235A>G, NM_001318014.1:c.235A>G, NM_001318014.2:c.235A>G, XM_017010739.2:c.235A>G, XM_017010739.1:c.235A>G, NM_001318022.2:c.235A>G, NM_001318022.1:c.235A>G, XM_047418644.1:c.1A>G, XM_047418641.1:c.235A>G, XM_047418642.1:c.235A>G, XM_047418646.1:c.1A>G, XM_047418645.1:c.1A>G, XM_047418643.1:c.235A>G, XM_047418640.1:c.235A>G, NP_112145.1:p.Met79Val, NP_001304943.1:p.Met79Val, XP_016866228.1:p.Met79Val, NP_001304951.1:p.Met79Val, XP_047274600.1:p.Met1Val, XP_047274597.1:p.Met79Val, XP_047274598.1:p.Met79Val, XP_047274602.1:p.Met1Val, XP_047274601.1:p.Met1Val, XP_047274599.1:p.Met79Val, XP_047274596.1:p.Met79Val

                                      19.

                                      rs1404574464 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:29462288 (GRCh38)
                                        6:29430065 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:29462287:T:C
                                        Gene:
                                        OR2H1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1403691426 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          6:29462378 (GRCh38)
                                          6:29430155 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:29462377:C:A,NC_000006.12:29462377:C:T
                                          Gene:
                                          OR2H1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0./0 (KOREAN)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.29462378C>A, NC_000006.12:g.29462378C>T, NC_000006.11:g.29430155C>A, NC_000006.11:g.29430155C>T, NT_113891.3:g.948830C>A, NT_113891.3:g.948830C>T, NT_113891.2:g.948936C>A, NT_113891.2:g.948936C>T, NT_167248.2:g.727844C>A, NT_167248.2:g.727844C>T, NT_167248.1:g.733440C>A, NT_167248.1:g.733440C>T, NT_167245.2:g.727901C>A, NT_167245.2:g.727901C>T, NT_167245.1:g.733486C>A, NT_167245.1:g.733486C>T, NT_167249.2:g.771391C>A, NT_167249.2:g.771391C>T, NT_167249.1:g.770689C>A, NT_167249.1:g.770689C>T, NT_167246.2:g.727503C>A, NT_167246.2:g.727503C>T, NT_167246.1:g.733123C>A, NT_167246.1:g.733123C>T, NT_167247.2:g.727752C>A, NT_167247.2:g.727752C>T, NT_167247.1:g.733337C>A, NT_167247.1:g.733337C>T, NT_167244.2:g.728039C>A, NT_167244.2:g.728039C>T, NT_167244.1:g.733633C>A, NT_167244.1:g.733633C>T, NM_030883.5:c.609C>A, NM_030883.5:c.609C>T, NM_030883.4:c.609C>A, NM_030883.4:c.609C>T, NM_030883.3:c.609C>A, NM_030883.3:c.609C>T, XM_017010739.2:c.609C>A, XM_017010739.2:c.609C>T, XM_017010739.1:c.609C>A, XM_017010739.1:c.609C>T, NM_001318014.2:c.609C>A, NM_001318014.2:c.609C>T, NM_001318014.1:c.609C>A, NM_001318014.1:c.609C>T, NM_001318022.2:c.609C>A, NM_001318022.2:c.609C>T, NM_001318022.1:c.609C>A, NM_001318022.1:c.609C>T, XM_047418644.1:c.375C>A, XM_047418644.1:c.375C>T, XM_047418642.1:c.609C>A, XM_047418642.1:c.609C>T, XM_047418645.1:c.375C>A, XM_047418645.1:c.375C>T, XM_047418641.1:c.609C>A, XM_047418641.1:c.609C>T, XM_047418646.1:c.375C>A, XM_047418646.1:c.375C>T, XM_047418640.1:c.609C>A, XM_047418640.1:c.609C>T, XM_047418643.1:c.609C>A, XM_047418643.1:c.609C>T

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