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Items: 1 to 20 of 162

1.

rs1483429766 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:201135759 (GRCh38)
    1:201104887 (GRCh37)
    Canonical SPDI:
    NC_000001.11:201135758:T:C
    Gene:
    TMEM9 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    HGVS:
    NC_000001.11:g.201135759T>C, NC_000001.10:g.201104887T>C, NM_016456.5:c.456A>G, NM_016456.4:c.456A>G, NM_016456.3:c.456A>G, XM_011509385.3:c.465A>G, XM_011509385.2:c.465A>G, XM_011509385.1:c.465A>G, XM_011509387.3:c.465A>G, XM_011509387.2:c.465A>G, XM_011509387.1:c.465A>G, XM_011509386.3:c.465A>G, XM_011509386.2:c.465A>G, XM_011509386.1:c.465A>G, NM_001288565.2:c.456A>G, NM_001288565.1:c.456A>G, NR_109921.2:n.976A>G, NR_109921.1:n.1057A>G, NM_001288567.2:c.456A>G, NM_001288567.1:c.456A>G, NR_109920.2:n.749A>G, NR_109920.1:n.830A>G, NM_001288568.2:c.456A>G, NM_001288568.1:c.456A>G, NM_001288566.2:c.456A>G, NM_001288566.1:c.456A>G, NM_001288571.2:c.531A>G, NM_001288571.1:c.531A>G, NM_001288564.2:c.456A>G, NM_001288564.1:c.456A>G, NM_001288570.2:c.465A>G, NM_001288570.1:c.465A>G, NM_001288569.2:c.456A>G, NM_001288569.1:c.456A>G

    2.

    rs1472470149 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:201143917 (GRCh38)
      1:201113045 (GRCh37)
      Canonical SPDI:
      NC_000001.11:201143916:G:C
      Gene:
      TMEM9 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.00005/1 (ALFA)
      HGVS:
      NC_000001.11:g.201143917G>C, NC_000001.10:g.201113045G>C, NM_016456.5:c.302C>G, NM_016456.4:c.302C>G, NM_016456.3:c.302C>G, XM_011509385.3:c.311C>G, XM_011509385.2:c.311C>G, XM_011509385.1:c.311C>G, XM_011509387.3:c.311C>G, XM_011509387.2:c.311C>G, XM_011509387.1:c.311C>G, XM_011509386.3:c.311C>G, XM_011509386.2:c.311C>G, XM_011509386.1:c.311C>G, NM_001288565.2:c.302C>G, NM_001288565.1:c.302C>G, NR_109921.2:n.822C>G, NR_109921.1:n.903C>G, NM_001288567.2:c.302C>G, NM_001288567.1:c.302C>G, NR_109920.2:n.595C>G, NR_109920.1:n.676C>G, NM_001288568.2:c.302C>G, NM_001288568.1:c.302C>G, NM_001288566.2:c.302C>G, NM_001288566.1:c.302C>G, NM_001288571.2:c.377C>G, NM_001288571.1:c.377C>G, NM_001288564.2:c.302C>G, NM_001288564.1:c.302C>G, NM_001288570.2:c.311C>G, NM_001288570.1:c.311C>G, NM_001288569.2:c.302C>G, NM_001288569.1:c.302C>G, NP_057540.1:p.Ala101Gly, XP_011507687.1:p.Ala104Gly, XP_011507689.1:p.Ala104Gly, XP_011507688.1:p.Ala104Gly, NP_001275494.1:p.Ala101Gly, NP_001275496.1:p.Ala101Gly, NP_001275497.1:p.Ala101Gly, NP_001275495.1:p.Ala101Gly, NP_001275500.1:p.Ala126Gly, NP_001275493.1:p.Ala101Gly, NP_001275499.1:p.Ala104Gly, NP_001275498.1:p.Ala101Gly

      3.

      rs1471489920 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        1:201135702 (GRCh38)
        1:201104830 (GRCh37)
        Canonical SPDI:
        NC_000001.11:201135701:C:G,NC_000001.11:201135701:C:T
        Gene:
        TMEM9 (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0./0 (KOREAN)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.201135702C>G, NC_000001.11:g.201135702C>T, NC_000001.10:g.201104830C>G, NC_000001.10:g.201104830C>T, NM_016456.5:c.513G>C, NM_016456.5:c.513G>A, NM_016456.4:c.513G>C, NM_016456.4:c.513G>A, NM_016456.3:c.513G>C, NM_016456.3:c.513G>A, XM_011509385.3:c.522G>C, XM_011509385.3:c.522G>A, XM_011509385.2:c.522G>C, XM_011509385.2:c.522G>A, XM_011509385.1:c.522G>C, XM_011509385.1:c.522G>A, XM_011509387.3:c.522G>C, XM_011509387.3:c.522G>A, XM_011509387.2:c.522G>C, XM_011509387.2:c.522G>A, XM_011509387.1:c.522G>C, XM_011509387.1:c.522G>A, XM_011509386.3:c.522G>C, XM_011509386.3:c.522G>A, XM_011509386.2:c.522G>C, XM_011509386.2:c.522G>A, XM_011509386.1:c.522G>C, XM_011509386.1:c.522G>A, NM_001288565.2:c.513G>C, NM_001288565.2:c.513G>A, NM_001288565.1:c.513G>C, NM_001288565.1:c.513G>A, NR_109921.2:n.1033G>C, NR_109921.2:n.1033G>A, NR_109921.1:n.1114G>C, NR_109921.1:n.1114G>A, NM_001288567.2:c.513G>C, NM_001288567.2:c.513G>A, NM_001288567.1:c.513G>C, NM_001288567.1:c.513G>A, NR_109920.2:n.806G>C, NR_109920.2:n.806G>A, NR_109920.1:n.887G>C, NR_109920.1:n.887G>A, NM_001288568.2:c.513G>C, NM_001288568.2:c.513G>A, NM_001288568.1:c.513G>C, NM_001288568.1:c.513G>A, NM_001288566.2:c.513G>C, NM_001288566.2:c.513G>A, NM_001288566.1:c.513G>C, NM_001288566.1:c.513G>A, NM_001288571.2:c.588G>C, NM_001288571.2:c.588G>A, NM_001288571.1:c.588G>C, NM_001288571.1:c.588G>A, NM_001288564.2:c.513G>C, NM_001288564.2:c.513G>A, NM_001288564.1:c.513G>C, NM_001288564.1:c.513G>A, NM_001288570.2:c.522G>C, NM_001288570.2:c.522G>A, NM_001288570.1:c.522G>C, NM_001288570.1:c.522G>A, NM_001288569.2:c.513G>C, NM_001288569.2:c.513G>A, NM_001288569.1:c.513G>C, NM_001288569.1:c.513G>A, NP_057540.1:p.Gln171His, XP_011507687.1:p.Gln174His, XP_011507689.1:p.Gln174His, XP_011507688.1:p.Gln174His, NP_001275494.1:p.Gln171His, NP_001275496.1:p.Gln171His, NP_001275497.1:p.Gln171His, NP_001275495.1:p.Gln171His, NP_001275500.1:p.Gln196His, NP_001275493.1:p.Gln171His, NP_001275499.1:p.Gln174His, NP_001275498.1:p.Gln171His

        4.

        rs1466901781 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:201143893 (GRCh38)
          1:201113021 (GRCh37)
          Canonical SPDI:
          NC_000001.11:201143892:A:G
          Gene:
          TMEM9 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.201143893A>G, NC_000001.10:g.201113021A>G, NM_016456.5:c.326T>C, NM_016456.4:c.326T>C, NM_016456.3:c.326T>C, XM_011509385.3:c.335T>C, XM_011509385.2:c.335T>C, XM_011509385.1:c.335T>C, XM_011509387.3:c.335T>C, XM_011509387.2:c.335T>C, XM_011509387.1:c.335T>C, XM_011509386.3:c.335T>C, XM_011509386.2:c.335T>C, XM_011509386.1:c.335T>C, NM_001288565.2:c.326T>C, NM_001288565.1:c.326T>C, NR_109921.2:n.846T>C, NR_109921.1:n.927T>C, NM_001288567.2:c.326T>C, NM_001288567.1:c.326T>C, NR_109920.2:n.619T>C, NR_109920.1:n.700T>C, NM_001288568.2:c.326T>C, NM_001288568.1:c.326T>C, NM_001288566.2:c.326T>C, NM_001288566.1:c.326T>C, NM_001288571.2:c.401T>C, NM_001288571.1:c.401T>C, NM_001288564.2:c.326T>C, NM_001288564.1:c.326T>C, NM_001288570.2:c.335T>C, NM_001288570.1:c.335T>C, NM_001288569.2:c.326T>C, NM_001288569.1:c.326T>C, NP_057540.1:p.Leu109Pro, XP_011507687.1:p.Leu112Pro, XP_011507689.1:p.Leu112Pro, XP_011507688.1:p.Leu112Pro, NP_001275494.1:p.Leu109Pro, NP_001275496.1:p.Leu109Pro, NP_001275497.1:p.Leu109Pro, NP_001275495.1:p.Leu109Pro, NP_001275500.1:p.Leu134Pro, NP_001275493.1:p.Leu109Pro, NP_001275499.1:p.Leu112Pro, NP_001275498.1:p.Leu109Pro

          5.

          rs1464835742 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            1:201143827 (GRCh38)
            1:201112955 (GRCh37)
            Canonical SPDI:
            NC_000001.11:201143826:T:A
            Gene:
            TMEM9 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.201143827T>A, NC_000001.10:g.201112955T>A, NM_016456.5:c.392A>T, NM_016456.4:c.392A>T, NM_016456.3:c.392A>T, XM_011509385.3:c.401A>T, XM_011509385.2:c.401A>T, XM_011509385.1:c.401A>T, XM_011509387.3:c.401A>T, XM_011509387.2:c.401A>T, XM_011509387.1:c.401A>T, XM_011509386.3:c.401A>T, XM_011509386.2:c.401A>T, XM_011509386.1:c.401A>T, NM_001288565.2:c.392A>T, NM_001288565.1:c.392A>T, NR_109921.2:n.912A>T, NR_109921.1:n.993A>T, NM_001288567.2:c.392A>T, NM_001288567.1:c.392A>T, NR_109920.2:n.685A>T, NR_109920.1:n.766A>T, NM_001288568.2:c.392A>T, NM_001288568.1:c.392A>T, NM_001288566.2:c.392A>T, NM_001288566.1:c.392A>T, NM_001288571.2:c.467A>T, NM_001288571.1:c.467A>T, NM_001288564.2:c.392A>T, NM_001288564.1:c.392A>T, NM_001288570.2:c.401A>T, NM_001288570.1:c.401A>T, NM_001288569.2:c.392A>T, NM_001288569.1:c.392A>T, NP_057540.1:p.Glu131Val, XP_011507687.1:p.Glu134Val, XP_011507689.1:p.Glu134Val, XP_011507688.1:p.Glu134Val, NP_001275494.1:p.Glu131Val, NP_001275496.1:p.Glu131Val, NP_001275497.1:p.Glu131Val, NP_001275495.1:p.Glu131Val, NP_001275500.1:p.Glu156Val, NP_001275493.1:p.Glu131Val, NP_001275499.1:p.Glu134Val, NP_001275498.1:p.Glu131Val

            6.

            rs1455414126 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:201146744 (GRCh38)
              1:201115872 (GRCh37)
              Canonical SPDI:
              NC_000001.11:201146743:A:C
              Gene:
              TMEM9 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.201146744A>C, NC_000001.10:g.201115872A>C, NM_016456.5:c.263T>G, NM_016456.4:c.263T>G, NM_016456.3:c.263T>G, XM_011509385.3:c.272T>G, XM_011509385.2:c.272T>G, XM_011509385.1:c.272T>G, XM_011509387.3:c.272T>G, XM_011509387.2:c.272T>G, XM_011509387.1:c.272T>G, XM_011509386.3:c.272T>G, XM_011509386.2:c.272T>G, XM_011509386.1:c.272T>G, NM_001288565.2:c.263T>G, NM_001288565.1:c.263T>G, NM_001288567.2:c.263T>G, NM_001288567.1:c.263T>G, NR_109920.2:n.329T>G, NR_109920.1:n.410T>G, NM_001288568.2:c.263T>G, NM_001288568.1:c.263T>G, NM_001288566.2:c.263T>G, NM_001288566.1:c.263T>G, NM_001288571.2:c.338T>G, NM_001288571.1:c.338T>G, NM_001288564.2:c.263T>G, NM_001288564.1:c.263T>G, NM_001288570.2:c.272T>G, NM_001288570.1:c.272T>G, NM_001288569.2:c.263T>G, NM_001288569.1:c.263T>G, NP_057540.1:p.Ile88Ser, XP_011507687.1:p.Ile91Ser, XP_011507689.1:p.Ile91Ser, XP_011507688.1:p.Ile91Ser, NP_001275494.1:p.Ile88Ser, NP_001275496.1:p.Ile88Ser, NP_001275497.1:p.Ile88Ser, NP_001275495.1:p.Ile88Ser, NP_001275500.1:p.Ile113Ser, NP_001275493.1:p.Ile88Ser, NP_001275499.1:p.Ile91Ser, NP_001275498.1:p.Ile88Ser

              7.

              rs1451060051 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:201135675 (GRCh38)
                1:201104803 (GRCh37)
                Canonical SPDI:
                NC_000001.11:201135674:C:G
                Gene:
                TMEM9 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.201135675C>G, NC_000001.10:g.201104803C>G, NM_016456.5:c.540G>C, NM_016456.4:c.540G>C, NM_016456.3:c.540G>C, XM_011509385.3:c.549G>C, XM_011509385.2:c.549G>C, XM_011509385.1:c.549G>C, XM_011509387.3:c.549G>C, XM_011509387.2:c.549G>C, XM_011509387.1:c.549G>C, XM_011509386.3:c.549G>C, XM_011509386.2:c.549G>C, XM_011509386.1:c.549G>C, NM_001288565.2:c.540G>C, NM_001288565.1:c.540G>C, NR_109921.2:n.1060G>C, NR_109921.1:n.1141G>C, NM_001288567.2:c.540G>C, NM_001288567.1:c.540G>C, NR_109920.2:n.833G>C, NR_109920.1:n.914G>C, NM_001288568.2:c.540G>C, NM_001288568.1:c.540G>C, NM_001288566.2:c.540G>C, NM_001288566.1:c.540G>C, NM_001288571.2:c.615G>C, NM_001288571.1:c.615G>C, NM_001288564.2:c.540G>C, NM_001288564.1:c.540G>C, NM_001288570.2:c.549G>C, NM_001288570.1:c.549G>C, NM_001288569.2:c.540G>C, NM_001288569.1:c.540G>C, NP_057540.1:p.Lys180Asn, XP_011507687.1:p.Lys183Asn, XP_011507689.1:p.Lys183Asn, XP_011507688.1:p.Lys183Asn, NP_001275494.1:p.Lys180Asn, NP_001275496.1:p.Lys180Asn, NP_001275497.1:p.Lys180Asn, NP_001275495.1:p.Lys180Asn, NP_001275500.1:p.Lys205Asn, NP_001275493.1:p.Lys180Asn, NP_001275499.1:p.Lys183Asn, NP_001275498.1:p.Lys180Asn

                8.

                rs1449577448 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:201151771 (GRCh38)
                  1:201120899 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:201151770:G:C
                  Gene:
                  TMEM9 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.201151771G>C, NC_000001.10:g.201120899G>C, NM_016456.5:c.148C>G, NM_016456.4:c.148C>G, NM_016456.3:c.148C>G, XM_011509385.3:c.157C>G, XM_011509385.2:c.157C>G, XM_011509385.1:c.157C>G, XM_011509387.3:c.157C>G, XM_011509387.2:c.157C>G, XM_011509387.1:c.157C>G, XM_011509386.3:c.157C>G, XM_011509386.2:c.157C>G, XM_011509386.1:c.157C>G, NM_001288565.2:c.148C>G, NM_001288565.1:c.148C>G, NR_109921.2:n.699C>G, NR_109921.1:n.780C>G, NM_001288567.2:c.148C>G, NM_001288567.1:c.148C>G, NR_109920.2:n.214C>G, NR_109920.1:n.295C>G, NM_001288568.2:c.148C>G, NM_001288568.1:c.148C>G, NM_001288566.2:c.148C>G, NM_001288566.1:c.148C>G, NM_001288571.2:c.223C>G, NM_001288571.1:c.223C>G, NM_001288564.2:c.148C>G, NM_001288564.1:c.148C>G, NM_001288570.2:c.157C>G, NM_001288570.1:c.157C>G, NM_001288569.2:c.148C>G, NM_001288569.1:c.148C>G, NP_057540.1:p.Gln50Glu, XP_011507687.1:p.Gln53Glu, XP_011507689.1:p.Gln53Glu, XP_011507688.1:p.Gln53Glu, NP_001275494.1:p.Gln50Glu, NP_001275496.1:p.Gln50Glu, NP_001275497.1:p.Gln50Glu, NP_001275495.1:p.Gln50Glu, NP_001275500.1:p.Gln75Glu, NP_001275493.1:p.Gln50Glu, NP_001275499.1:p.Gln53Glu, NP_001275498.1:p.Gln50Glu

                  9.

                  rs1416980844 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:201135803 (GRCh38)
                    1:201104931 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:201135802:T:C
                    Gene:
                    TMEM9 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.201135803T>C, NC_000001.10:g.201104931T>C, NM_016456.5:c.412A>G, NM_016456.4:c.412A>G, NM_016456.3:c.412A>G, XM_011509385.3:c.421A>G, XM_011509385.2:c.421A>G, XM_011509385.1:c.421A>G, XM_011509387.3:c.421A>G, XM_011509387.2:c.421A>G, XM_011509387.1:c.421A>G, XM_011509386.3:c.421A>G, XM_011509386.2:c.421A>G, XM_011509386.1:c.421A>G, NM_001288565.2:c.412A>G, NM_001288565.1:c.412A>G, NR_109921.2:n.932A>G, NR_109921.1:n.1013A>G, NM_001288567.2:c.412A>G, NM_001288567.1:c.412A>G, NR_109920.2:n.705A>G, NR_109920.1:n.786A>G, NM_001288568.2:c.412A>G, NM_001288568.1:c.412A>G, NM_001288566.2:c.412A>G, NM_001288566.1:c.412A>G, NM_001288571.2:c.487A>G, NM_001288571.1:c.487A>G, NM_001288564.2:c.412A>G, NM_001288564.1:c.412A>G, NM_001288570.2:c.421A>G, NM_001288570.1:c.421A>G, NM_001288569.2:c.412A>G, NM_001288569.1:c.412A>G, NP_057540.1:p.Met138Val, XP_011507687.1:p.Met141Val, XP_011507689.1:p.Met141Val, XP_011507688.1:p.Met141Val, NP_001275494.1:p.Met138Val, NP_001275496.1:p.Met138Val, NP_001275497.1:p.Met138Val, NP_001275495.1:p.Met138Val, NP_001275500.1:p.Met163Val, NP_001275493.1:p.Met138Val, NP_001275499.1:p.Met141Val, NP_001275498.1:p.Met138Val

                    10.

                    rs1410876979 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:201135701 (GRCh38)
                      1:201104829 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:201135700:G:A
                      Gene:
                      TMEM9 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                      HGVS:
                      NC_000001.11:g.201135701G>A, NC_000001.10:g.201104829G>A, NM_016456.5:c.514C>T, NM_016456.4:c.514C>T, NM_016456.3:c.514C>T, XM_011509385.3:c.523C>T, XM_011509385.2:c.523C>T, XM_011509385.1:c.523C>T, XM_011509387.3:c.523C>T, XM_011509387.2:c.523C>T, XM_011509387.1:c.523C>T, XM_011509386.3:c.523C>T, XM_011509386.2:c.523C>T, XM_011509386.1:c.523C>T, NM_001288565.2:c.514C>T, NM_001288565.1:c.514C>T, NR_109921.2:n.1034C>T, NR_109921.1:n.1115C>T, NM_001288567.2:c.514C>T, NM_001288567.1:c.514C>T, NR_109920.2:n.807C>T, NR_109920.1:n.888C>T, NM_001288568.2:c.514C>T, NM_001288568.1:c.514C>T, NM_001288566.2:c.514C>T, NM_001288566.1:c.514C>T, NM_001288571.2:c.589C>T, NM_001288571.1:c.589C>T, NM_001288564.2:c.514C>T, NM_001288564.1:c.514C>T, NM_001288570.2:c.523C>T, NM_001288570.1:c.523C>T, NM_001288569.2:c.514C>T, NM_001288569.1:c.514C>T, NP_057540.1:p.Arg172Trp, XP_011507687.1:p.Arg175Trp, XP_011507689.1:p.Arg175Trp, XP_011507688.1:p.Arg175Trp, NP_001275494.1:p.Arg172Trp, NP_001275496.1:p.Arg172Trp, NP_001275497.1:p.Arg172Trp, NP_001275495.1:p.Arg172Trp, NP_001275500.1:p.Arg197Trp, NP_001275493.1:p.Arg172Trp, NP_001275499.1:p.Arg175Trp, NP_001275498.1:p.Arg172Trp

                      11.

                      rs1398419126 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        1:201146750 (GRCh38)
                        1:201115878 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:201146749:G:A,NC_000001.11:201146749:G:C
                        Gene:
                        TMEM9 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.201146750G>A, NC_000001.11:g.201146750G>C, NC_000001.10:g.201115878G>A, NC_000001.10:g.201115878G>C, NM_016456.5:c.257C>T, NM_016456.5:c.257C>G, NM_016456.4:c.257C>T, NM_016456.4:c.257C>G, NM_016456.3:c.257C>T, NM_016456.3:c.257C>G, XM_011509385.3:c.266C>T, XM_011509385.3:c.266C>G, XM_011509385.2:c.266C>T, XM_011509385.2:c.266C>G, XM_011509385.1:c.266C>T, XM_011509385.1:c.266C>G, XM_011509387.3:c.266C>T, XM_011509387.3:c.266C>G, XM_011509387.2:c.266C>T, XM_011509387.2:c.266C>G, XM_011509387.1:c.266C>T, XM_011509387.1:c.266C>G, XM_011509386.3:c.266C>T, XM_011509386.3:c.266C>G, XM_011509386.2:c.266C>T, XM_011509386.2:c.266C>G, XM_011509386.1:c.266C>T, XM_011509386.1:c.266C>G, NM_001288565.2:c.257C>T, NM_001288565.2:c.257C>G, NM_001288565.1:c.257C>T, NM_001288565.1:c.257C>G, NM_001288567.2:c.257C>T, NM_001288567.2:c.257C>G, NM_001288567.1:c.257C>T, NM_001288567.1:c.257C>G, NR_109920.2:n.323C>T, NR_109920.2:n.323C>G, NR_109920.1:n.404C>T, NR_109920.1:n.404C>G, NM_001288568.2:c.257C>T, NM_001288568.2:c.257C>G, NM_001288568.1:c.257C>T, NM_001288568.1:c.257C>G, NM_001288566.2:c.257C>T, NM_001288566.2:c.257C>G, NM_001288566.1:c.257C>T, NM_001288566.1:c.257C>G, NM_001288571.2:c.332C>T, NM_001288571.2:c.332C>G, NM_001288571.1:c.332C>T, NM_001288571.1:c.332C>G, NM_001288564.2:c.257C>T, NM_001288564.2:c.257C>G, NM_001288564.1:c.257C>T, NM_001288564.1:c.257C>G, NM_001288570.2:c.266C>T, NM_001288570.2:c.266C>G, NM_001288570.1:c.266C>T, NM_001288570.1:c.266C>G, NM_001288569.2:c.257C>T, NM_001288569.2:c.257C>G, NM_001288569.1:c.257C>T, NM_001288569.1:c.257C>G, NP_057540.1:p.Thr86Ile, NP_057540.1:p.Thr86Ser, XP_011507687.1:p.Thr89Ile, XP_011507687.1:p.Thr89Ser, XP_011507689.1:p.Thr89Ile, XP_011507689.1:p.Thr89Ser, XP_011507688.1:p.Thr89Ile, XP_011507688.1:p.Thr89Ser, NP_001275494.1:p.Thr86Ile, NP_001275494.1:p.Thr86Ser, NP_001275496.1:p.Thr86Ile, NP_001275496.1:p.Thr86Ser, NP_001275497.1:p.Thr86Ile, NP_001275497.1:p.Thr86Ser, NP_001275495.1:p.Thr86Ile, NP_001275495.1:p.Thr86Ser, NP_001275500.1:p.Thr111Ile, NP_001275500.1:p.Thr111Ser, NP_001275493.1:p.Thr86Ile, NP_001275493.1:p.Thr86Ser, NP_001275499.1:p.Thr89Ile, NP_001275499.1:p.Thr89Ser, NP_001275498.1:p.Thr86Ile, NP_001275498.1:p.Thr86Ser

                        12.

                        rs1392393402 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:201146825 (GRCh38)
                          1:201115953 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:201146824:G:C
                          Gene:
                          TMEM9 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000001.11:g.201146825G>C, NC_000001.10:g.201115953G>C, NM_016456.5:c.182C>G, NM_016456.4:c.182C>G, NM_016456.3:c.182C>G, XM_011509385.3:c.191C>G, XM_011509385.2:c.191C>G, XM_011509385.1:c.191C>G, XM_011509387.3:c.191C>G, XM_011509387.2:c.191C>G, XM_011509387.1:c.191C>G, XM_011509386.3:c.191C>G, XM_011509386.2:c.191C>G, XM_011509386.1:c.191C>G, NM_001288565.2:c.182C>G, NM_001288565.1:c.182C>G, NR_109921.2:n.733C>G, NR_109921.1:n.814C>G, NM_001288567.2:c.182C>G, NM_001288567.1:c.182C>G, NR_109920.2:n.248C>G, NR_109920.1:n.329C>G, NM_001288568.2:c.182C>G, NM_001288568.1:c.182C>G, NM_001288566.2:c.182C>G, NM_001288566.1:c.182C>G, NM_001288571.2:c.257C>G, NM_001288571.1:c.257C>G, NM_001288564.2:c.182C>G, NM_001288564.1:c.182C>G, NM_001288570.2:c.191C>G, NM_001288570.1:c.191C>G, NM_001288569.2:c.182C>G, NM_001288569.1:c.182C>G, NP_057540.1:p.Pro61Arg, XP_011507687.1:p.Pro64Arg, XP_011507689.1:p.Pro64Arg, XP_011507688.1:p.Pro64Arg, NP_001275494.1:p.Pro61Arg, NP_001275496.1:p.Pro61Arg, NP_001275497.1:p.Pro61Arg, NP_001275495.1:p.Pro61Arg, NP_001275500.1:p.Pro86Arg, NP_001275493.1:p.Pro61Arg, NP_001275499.1:p.Pro64Arg, NP_001275498.1:p.Pro61Arg

                          13.

                          rs1391410496 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:201135783 (GRCh38)
                            1:201104911 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:201135782:G:C
                            Gene:
                            TMEM9 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.201135783G>C, NC_000001.10:g.201104911G>C, NM_016456.5:c.432C>G, NM_016456.4:c.432C>G, NM_016456.3:c.432C>G, XM_011509385.3:c.441C>G, XM_011509385.2:c.441C>G, XM_011509385.1:c.441C>G, XM_011509387.3:c.441C>G, XM_011509387.2:c.441C>G, XM_011509387.1:c.441C>G, XM_011509386.3:c.441C>G, XM_011509386.2:c.441C>G, XM_011509386.1:c.441C>G, NM_001288565.2:c.432C>G, NM_001288565.1:c.432C>G, NR_109921.2:n.952C>G, NR_109921.1:n.1033C>G, NM_001288567.2:c.432C>G, NM_001288567.1:c.432C>G, NR_109920.2:n.725C>G, NR_109920.1:n.806C>G, NM_001288568.2:c.432C>G, NM_001288568.1:c.432C>G, NM_001288566.2:c.432C>G, NM_001288566.1:c.432C>G, NM_001288571.2:c.507C>G, NM_001288571.1:c.507C>G, NM_001288564.2:c.432C>G, NM_001288564.1:c.432C>G, NM_001288570.2:c.441C>G, NM_001288570.1:c.441C>G, NM_001288569.2:c.432C>G, NM_001288569.1:c.432C>G

                            14.

                            rs1390011591 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              1:201143836 (GRCh38)
                              1:201112964 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:201143835:T:A,NC_000001.11:201143835:T:C
                              Gene:
                              TMEM9 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000047/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000001.11:g.201143836T>A, NC_000001.11:g.201143836T>C, NC_000001.10:g.201112964T>A, NC_000001.10:g.201112964T>C, NM_016456.5:c.383A>T, NM_016456.5:c.383A>G, NM_016456.4:c.383A>T, NM_016456.4:c.383A>G, NM_016456.3:c.383A>T, NM_016456.3:c.383A>G, XM_011509385.3:c.392A>T, XM_011509385.3:c.392A>G, XM_011509385.2:c.392A>T, XM_011509385.2:c.392A>G, XM_011509385.1:c.392A>T, XM_011509385.1:c.392A>G, XM_011509387.3:c.392A>T, XM_011509387.3:c.392A>G, XM_011509387.2:c.392A>T, XM_011509387.2:c.392A>G, XM_011509387.1:c.392A>T, XM_011509387.1:c.392A>G, XM_011509386.3:c.392A>T, XM_011509386.3:c.392A>G, XM_011509386.2:c.392A>T, XM_011509386.2:c.392A>G, XM_011509386.1:c.392A>T, XM_011509386.1:c.392A>G, NM_001288565.2:c.383A>T, NM_001288565.2:c.383A>G, NM_001288565.1:c.383A>T, NM_001288565.1:c.383A>G, NR_109921.2:n.903A>T, NR_109921.2:n.903A>G, NR_109921.1:n.984A>T, NR_109921.1:n.984A>G, NM_001288567.2:c.383A>T, NM_001288567.2:c.383A>G, NM_001288567.1:c.383A>T, NM_001288567.1:c.383A>G, NR_109920.2:n.676A>T, NR_109920.2:n.676A>G, NR_109920.1:n.757A>T, NR_109920.1:n.757A>G, NM_001288568.2:c.383A>T, NM_001288568.2:c.383A>G, NM_001288568.1:c.383A>T, NM_001288568.1:c.383A>G, NM_001288566.2:c.383A>T, NM_001288566.2:c.383A>G, NM_001288566.1:c.383A>T, NM_001288566.1:c.383A>G, NM_001288571.2:c.458A>T, NM_001288571.2:c.458A>G, NM_001288571.1:c.458A>T, NM_001288571.1:c.458A>G, NM_001288564.2:c.383A>T, NM_001288564.2:c.383A>G, NM_001288564.1:c.383A>T, NM_001288564.1:c.383A>G, NM_001288570.2:c.392A>T, NM_001288570.2:c.392A>G, NM_001288570.1:c.392A>T, NM_001288570.1:c.392A>G, NM_001288569.2:c.383A>T, NM_001288569.2:c.383A>G, NM_001288569.1:c.383A>T, NM_001288569.1:c.383A>G, NP_057540.1:p.Asn128Ile, NP_057540.1:p.Asn128Ser, XP_011507687.1:p.Asn131Ile, XP_011507687.1:p.Asn131Ser, XP_011507689.1:p.Asn131Ile, XP_011507689.1:p.Asn131Ser, XP_011507688.1:p.Asn131Ile, XP_011507688.1:p.Asn131Ser, NP_001275494.1:p.Asn128Ile, NP_001275494.1:p.Asn128Ser, NP_001275496.1:p.Asn128Ile, NP_001275496.1:p.Asn128Ser, NP_001275497.1:p.Asn128Ile, NP_001275497.1:p.Asn128Ser, NP_001275495.1:p.Asn128Ile, NP_001275495.1:p.Asn128Ser, NP_001275500.1:p.Asn153Ile, NP_001275500.1:p.Asn153Ser, NP_001275493.1:p.Asn128Ile, NP_001275493.1:p.Asn128Ser, NP_001275499.1:p.Asn131Ile, NP_001275499.1:p.Asn131Ser, NP_001275498.1:p.Asn128Ile, NP_001275498.1:p.Asn128Ser

                              15.

                              rs1387450429 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:201143856 (GRCh38)
                                1:201112984 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:201143855:T:C
                                Gene:
                                TMEM9 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.201143856T>C, NC_000001.10:g.201112984T>C, NM_016456.5:c.363A>G, NM_016456.4:c.363A>G, NM_016456.3:c.363A>G, XM_011509385.3:c.372A>G, XM_011509385.2:c.372A>G, XM_011509385.1:c.372A>G, XM_011509387.3:c.372A>G, XM_011509387.2:c.372A>G, XM_011509387.1:c.372A>G, XM_011509386.3:c.372A>G, XM_011509386.2:c.372A>G, XM_011509386.1:c.372A>G, NM_001288565.2:c.363A>G, NM_001288565.1:c.363A>G, NR_109921.2:n.883A>G, NR_109921.1:n.964A>G, NM_001288567.2:c.363A>G, NM_001288567.1:c.363A>G, NR_109920.2:n.656A>G, NR_109920.1:n.737A>G, NM_001288568.2:c.363A>G, NM_001288568.1:c.363A>G, NM_001288566.2:c.363A>G, NM_001288566.1:c.363A>G, NM_001288571.2:c.438A>G, NM_001288571.1:c.438A>G, NM_001288564.2:c.363A>G, NM_001288564.1:c.363A>G, NM_001288570.2:c.372A>G, NM_001288570.1:c.372A>G, NM_001288569.2:c.363A>G, NM_001288569.1:c.363A>G

                                16.

                                rs1386882298 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:201143868 (GRCh38)
                                  1:201112996 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:201143867:T:G
                                  Gene:
                                  TMEM9 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.201143868T>G, NC_000001.10:g.201112996T>G, NM_016456.5:c.351A>C, NM_016456.4:c.351A>C, NM_016456.3:c.351A>C, XM_011509385.3:c.360A>C, XM_011509385.2:c.360A>C, XM_011509385.1:c.360A>C, XM_011509387.3:c.360A>C, XM_011509387.2:c.360A>C, XM_011509387.1:c.360A>C, XM_011509386.3:c.360A>C, XM_011509386.2:c.360A>C, XM_011509386.1:c.360A>C, NM_001288565.2:c.351A>C, NM_001288565.1:c.351A>C, NR_109921.2:n.871A>C, NR_109921.1:n.952A>C, NM_001288567.2:c.351A>C, NM_001288567.1:c.351A>C, NR_109920.2:n.644A>C, NR_109920.1:n.725A>C, NM_001288568.2:c.351A>C, NM_001288568.1:c.351A>C, NM_001288566.2:c.351A>C, NM_001288566.1:c.351A>C, NM_001288571.2:c.426A>C, NM_001288571.1:c.426A>C, NM_001288564.2:c.351A>C, NM_001288564.1:c.351A>C, NM_001288570.2:c.360A>C, NM_001288570.1:c.360A>C, NM_001288569.2:c.351A>C, NM_001288569.1:c.351A>C

                                  17.

                                  rs1386158335 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:201135681 (GRCh38)
                                    1:201104809 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:201135680:C:A
                                    Gene:
                                    TMEM9 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.201135681C>A, NC_000001.10:g.201104809C>A, NM_016456.5:c.534G>T, NM_016456.4:c.534G>T, NM_016456.3:c.534G>T, XM_011509385.3:c.543G>T, XM_011509385.2:c.543G>T, XM_011509385.1:c.543G>T, XM_011509387.3:c.543G>T, XM_011509387.2:c.543G>T, XM_011509387.1:c.543G>T, XM_011509386.3:c.543G>T, XM_011509386.2:c.543G>T, XM_011509386.1:c.543G>T, NM_001288565.2:c.534G>T, NM_001288565.1:c.534G>T, NR_109921.2:n.1054G>T, NR_109921.1:n.1135G>T, NM_001288567.2:c.534G>T, NM_001288567.1:c.534G>T, NR_109920.2:n.827G>T, NR_109920.1:n.908G>T, NM_001288568.2:c.534G>T, NM_001288568.1:c.534G>T, NM_001288566.2:c.534G>T, NM_001288566.1:c.534G>T, NM_001288571.2:c.609G>T, NM_001288571.1:c.609G>T, NM_001288564.2:c.534G>T, NM_001288564.1:c.534G>T, NM_001288570.2:c.543G>T, NM_001288570.1:c.543G>T, NM_001288569.2:c.534G>T, NM_001288569.1:c.534G>T

                                    18.

                                    rs1381743206 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      1:201151824 (GRCh38)
                                      1:201120952 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:201151823:A:C
                                      Gene:
                                      TMEM9 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.201151824A>C, NC_000001.10:g.201120952A>C, NM_016456.5:c.95T>G, NM_016456.4:c.95T>G, NM_016456.3:c.95T>G, XM_011509385.3:c.104T>G, XM_011509385.2:c.104T>G, XM_011509385.1:c.104T>G, XM_011509387.3:c.104T>G, XM_011509387.2:c.104T>G, XM_011509387.1:c.104T>G, XM_011509386.3:c.104T>G, XM_011509386.2:c.104T>G, XM_011509386.1:c.104T>G, NM_001288565.2:c.95T>G, NM_001288565.1:c.95T>G, NR_109921.2:n.646T>G, NR_109921.1:n.727T>G, NM_001288567.2:c.95T>G, NM_001288567.1:c.95T>G, NR_109920.2:n.161T>G, NR_109920.1:n.242T>G, NM_001288568.2:c.95T>G, NM_001288568.1:c.95T>G, NM_001288566.2:c.95T>G, NM_001288566.1:c.95T>G, NM_001288571.2:c.170T>G, NM_001288571.1:c.170T>G, NM_001288564.2:c.95T>G, NM_001288564.1:c.95T>G, NM_001288570.2:c.104T>G, NM_001288570.1:c.104T>G, NM_001288569.2:c.95T>G, NM_001288569.1:c.95T>G, NP_057540.1:p.Ile32Ser, XP_011507687.1:p.Ile35Ser, XP_011507689.1:p.Ile35Ser, XP_011507688.1:p.Ile35Ser, NP_001275494.1:p.Ile32Ser, NP_001275496.1:p.Ile32Ser, NP_001275497.1:p.Ile32Ser, NP_001275495.1:p.Ile32Ser, NP_001275500.1:p.Ile57Ser, NP_001275493.1:p.Ile32Ser, NP_001275499.1:p.Ile35Ser, NP_001275498.1:p.Ile32Ser

                                      19.

                                      rs1381299008 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:201153876 (GRCh38)
                                        1:201123004 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:201153875:G:A
                                        Gene:
                                        TMEM9 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000111/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.201153876G>A, NC_000001.10:g.201123004G>A, NM_016456.5:c.48C>T, NM_016456.4:c.48C>T, NM_016456.3:c.48C>T, XM_011509385.3:c.48C>T, XM_011509385.2:c.48C>T, XM_011509385.1:c.48C>T, XM_011509387.3:c.48C>T, XM_011509387.2:c.48C>T, XM_011509387.1:c.48C>T, XM_011509386.3:c.48C>T, XM_011509386.2:c.48C>T, XM_011509386.1:c.48C>T, NM_001288565.2:c.48C>T, NM_001288565.1:c.48C>T, NR_109921.2:n.599C>T, NR_109921.1:n.680C>T, NM_001288567.2:c.48C>T, NM_001288567.1:c.48C>T, NR_109920.2:n.114C>T, NR_109920.1:n.195C>T, NM_001288568.2:c.48C>T, NM_001288568.1:c.48C>T, NM_001288566.2:c.48C>T, NM_001288566.1:c.48C>T, NM_001288571.2:c.48C>T, NM_001288571.1:c.48C>T, NM_001288564.2:c.48C>T, NM_001288564.1:c.48C>T, NM_001288570.2:c.48C>T, NM_001288570.1:c.48C>T, NM_001288569.2:c.48C>T, NM_001288569.1:c.48C>T

                                        20.

                                        rs1378630586 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:201146741 (GRCh38)
                                          1:201115869 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:201146740:T:C
                                          Gene:
                                          TMEM9 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.201146741T>C, NC_000001.10:g.201115869T>C, NM_016456.5:c.266A>G, NM_016456.4:c.266A>G, NM_016456.3:c.266A>G, XM_011509385.3:c.275A>G, XM_011509385.2:c.275A>G, XM_011509385.1:c.275A>G, XM_011509387.3:c.275A>G, XM_011509387.2:c.275A>G, XM_011509387.1:c.275A>G, XM_011509386.3:c.275A>G, XM_011509386.2:c.275A>G, XM_011509386.1:c.275A>G, NM_001288565.2:c.266A>G, NM_001288565.1:c.266A>G, NM_001288567.2:c.266A>G, NM_001288567.1:c.266A>G, NR_109920.2:n.332A>G, NR_109920.1:n.413A>G, NM_001288568.2:c.266A>G, NM_001288568.1:c.266A>G, NM_001288566.2:c.266A>G, NM_001288566.1:c.266A>G, NM_001288571.2:c.341A>G, NM_001288571.1:c.341A>G, NM_001288564.2:c.266A>G, NM_001288564.1:c.266A>G, NM_001288570.2:c.275A>G, NM_001288570.1:c.275A>G, NM_001288569.2:c.266A>G, NM_001288569.1:c.266A>G, NP_057540.1:p.Lys89Arg, XP_011507687.1:p.Lys92Arg, XP_011507689.1:p.Lys92Arg, XP_011507688.1:p.Lys92Arg, NP_001275494.1:p.Lys89Arg, NP_001275496.1:p.Lys89Arg, NP_001275497.1:p.Lys89Arg, NP_001275495.1:p.Lys89Arg, NP_001275500.1:p.Lys114Arg, NP_001275493.1:p.Lys89Arg, NP_001275499.1:p.Lys92Arg, NP_001275498.1:p.Lys89Arg

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