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Items: 1 to 20 of 234

1.

rs1489981016 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    15:55230414 (GRCh38)
    15:55522612 (GRCh37)
    Canonical SPDI:
    NC_000015.10:55230413:C:G,NC_000015.10:55230413:C:T
    Gene:
    RAB27A (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_000015.10:g.55230414C>G, NC_000015.10:g.55230414C>T, NC_000015.9:g.55522612C>G, NC_000015.9:g.55522612C>T, NG_009103.1:g.64390G>C, NG_009103.1:g.64390G>A, NM_004580.5:c.226G>C, NM_004580.5:c.226G>A, NM_004580.4:c.226G>C, NM_004580.4:c.226G>A, NM_183235.3:c.226G>C, NM_183235.3:c.226G>A, NM_183235.2:c.226G>C, NM_183235.2:c.226G>A, NM_183236.3:c.226G>C, NM_183236.3:c.226G>A, NM_183236.2:c.226G>C, NM_183236.2:c.226G>A, NM_183234.2:c.226G>C, NM_183234.2:c.226G>A, XM_005254576.6:c.226G>C, XM_005254576.6:c.226G>A, XM_005254576.5:c.226G>C, XM_005254576.5:c.226G>A, XM_005254576.4:c.226G>C, XM_005254576.4:c.226G>A, XM_005254576.3:c.226G>C, XM_005254576.3:c.226G>A, XM_005254576.2:c.226G>C, XM_005254576.2:c.226G>A, XM_005254576.1:c.226G>C, XM_005254576.1:c.226G>A, XM_011521855.4:c.226G>C, XM_011521855.4:c.226G>A, XM_011521855.3:c.226G>C, XM_011521855.3:c.226G>A, XM_011521855.2:c.226G>C, XM_011521855.2:c.226G>A, XM_011521855.1:c.226G>C, XM_011521855.1:c.226G>A, XM_011521856.3:c.226G>C, XM_011521856.3:c.226G>A, XM_011521856.2:c.226G>C, XM_011521856.2:c.226G>A, XM_011521856.1:c.226G>C, XM_011521856.1:c.226G>A, XM_047432918.1:c.226G>C, XM_047432918.1:c.226G>A, XM_047432922.1:c.226G>C, XM_047432922.1:c.226G>A, XM_047432916.1:c.226G>C, XM_047432916.1:c.226G>A, XM_047432919.1:c.226G>C, XM_047432919.1:c.226G>A, XM_011521852.1:c.226G>C, XM_011521852.1:c.226G>A, XM_047432917.1:c.226G>C, XM_047432917.1:c.226G>A, XM_047432920.1:c.226G>C, XM_047432920.1:c.226G>A, XM_047432923.1:c.226G>C, XM_047432923.1:c.226G>A, XM_011521854.1:c.226G>C, XM_011521854.1:c.226G>A, XM_047432921.1:c.226G>C, XM_047432921.1:c.226G>A, NP_004571.2:p.Ala76Pro, NP_004571.2:p.Ala76Thr, NP_899058.1:p.Ala76Pro, NP_899058.1:p.Ala76Thr, NP_899059.1:p.Ala76Pro, NP_899059.1:p.Ala76Thr, NP_899057.1:p.Ala76Pro, NP_899057.1:p.Ala76Thr, XP_005254633.1:p.Ala76Pro, XP_005254633.1:p.Ala76Thr, XP_011520157.1:p.Ala76Pro, XP_011520157.1:p.Ala76Thr, XP_011520158.1:p.Ala76Pro, XP_011520158.1:p.Ala76Thr, XP_047288874.1:p.Ala76Pro, XP_047288874.1:p.Ala76Thr, XP_047288878.1:p.Ala76Pro, XP_047288878.1:p.Ala76Thr, XP_047288872.1:p.Ala76Pro, XP_047288872.1:p.Ala76Thr, XP_047288875.1:p.Ala76Pro, XP_047288875.1:p.Ala76Thr, XP_011520154.1:p.Ala76Pro, XP_011520154.1:p.Ala76Thr, XP_047288873.1:p.Ala76Pro, XP_047288873.1:p.Ala76Thr, XP_047288876.1:p.Ala76Pro, XP_047288876.1:p.Ala76Thr, XP_047288879.1:p.Ala76Pro, XP_047288879.1:p.Ala76Thr, XP_011520156.1:p.Ala76Pro, XP_011520156.1:p.Ala76Thr, XP_047288877.1:p.Ala76Pro, XP_047288877.1:p.Ala76Thr

    2.

    rs1488806292 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      15:55205648 (GRCh38)
      15:55497846 (GRCh37)
      Canonical SPDI:
      NC_000015.10:55205647:C:G,NC_000015.10:55205647:C:T
      Gene:
      RAB27A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000015.10:g.55205648C>G, NC_000015.10:g.55205648C>T, NC_000015.9:g.55497846C>G, NC_000015.9:g.55497846C>T, NG_009103.1:g.89156G>C, NG_009103.1:g.89156G>A, NM_004580.5:c.525G>C, NM_004580.5:c.525G>A, NM_004580.4:c.525G>C, NM_004580.4:c.525G>A, NM_183235.3:c.525G>C, NM_183235.3:c.525G>A, NM_183235.2:c.525G>C, NM_183235.2:c.525G>A, NM_183236.3:c.525G>C, NM_183236.3:c.525G>A, NM_183236.2:c.525G>C, NM_183236.2:c.525G>A, NM_183234.2:c.525G>C, NM_183234.2:c.525G>A, XM_005254576.6:c.525G>C, XM_005254576.6:c.525G>A, XM_005254576.5:c.525G>C, XM_005254576.5:c.525G>A, XM_005254576.4:c.525G>C, XM_005254576.4:c.525G>A, XM_005254576.3:c.525G>C, XM_005254576.3:c.525G>A, XM_005254576.2:c.525G>C, XM_005254576.2:c.525G>A, XM_005254576.1:c.525G>C, XM_005254576.1:c.525G>A, XM_011521855.4:c.525G>C, XM_011521855.4:c.525G>A, XM_011521855.3:c.525G>C, XM_011521855.3:c.525G>A, XM_011521855.2:c.525G>C, XM_011521855.2:c.525G>A, XM_011521855.1:c.525G>C, XM_011521855.1:c.525G>A, XM_011521856.3:c.525G>C, XM_011521856.3:c.525G>A, XM_011521856.2:c.525G>C, XM_011521856.2:c.525G>A, XM_011521856.1:c.525G>C, XM_011521856.1:c.525G>A, XM_047432918.1:c.525G>C, XM_047432918.1:c.525G>A, XM_047432922.1:c.525G>C, XM_047432922.1:c.525G>A, XM_047432916.1:c.525G>C, XM_047432916.1:c.525G>A, XM_047432919.1:c.525G>C, XM_047432919.1:c.525G>A, XM_011521852.1:c.525G>C, XM_011521852.1:c.525G>A, XM_047432917.1:c.525G>C, XM_047432917.1:c.525G>A, XM_047432920.1:c.525G>C, XM_047432920.1:c.525G>A, XM_047432923.1:c.525G>C, XM_047432923.1:c.525G>A, XM_011521854.1:c.525G>C, XM_011521854.1:c.525G>A, XM_047432921.1:c.525G>C, XM_047432921.1:c.525G>A, NP_004571.2:p.Glu175Asp, NP_899058.1:p.Glu175Asp, NP_899059.1:p.Glu175Asp, NP_899057.1:p.Glu175Asp, XP_005254633.1:p.Glu175Asp, XP_011520157.1:p.Glu175Asp, XP_011520158.1:p.Glu175Asp, XP_047288874.1:p.Glu175Asp, XP_047288878.1:p.Glu175Asp, XP_047288872.1:p.Glu175Asp, XP_047288875.1:p.Glu175Asp, XP_011520154.1:p.Glu175Asp, XP_047288873.1:p.Glu175Asp, XP_047288876.1:p.Glu175Asp, XP_047288879.1:p.Glu175Asp, XP_011520156.1:p.Glu175Asp, XP_047288877.1:p.Glu175Asp

      3.

      rs1483742338 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:55224005 (GRCh38)
        15:55516203 (GRCh37)
        Canonical SPDI:
        NC_000015.10:55224004:T:C
        Gene:
        RAB27A (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000015.10:g.55224005T>C, NC_000015.9:g.55516203T>C, NG_009103.1:g.70799A>G, NM_004580.5:c.351A>G, NM_004580.4:c.351A>G, NM_183235.3:c.351A>G, NM_183235.2:c.351A>G, NM_183236.3:c.351A>G, NM_183236.2:c.351A>G, NM_183234.2:c.351A>G, XM_005254576.6:c.351A>G, XM_005254576.5:c.351A>G, XM_005254576.4:c.351A>G, XM_005254576.3:c.351A>G, XM_005254576.2:c.351A>G, XM_005254576.1:c.351A>G, XM_011521855.4:c.351A>G, XM_011521855.3:c.351A>G, XM_011521855.2:c.351A>G, XM_011521855.1:c.351A>G, XM_011521856.3:c.351A>G, XM_011521856.2:c.351A>G, XM_011521856.1:c.351A>G, XM_047432918.1:c.351A>G, XM_047432922.1:c.351A>G, XM_047432916.1:c.351A>G, XM_047432919.1:c.351A>G, XM_011521852.1:c.351A>G, XM_047432917.1:c.351A>G, XM_047432920.1:c.351A>G, XM_047432923.1:c.351A>G, XM_011521854.1:c.351A>G, XM_047432921.1:c.351A>G

        4.

        rs1479067378 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:55230433 (GRCh38)
          15:55522631 (GRCh37)
          Canonical SPDI:
          NC_000015.10:55230432:G:A
          Gene:
          RAB27A (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.55230433G>A, NC_000015.9:g.55522631G>A, NG_009103.1:g.64371C>T, NM_004580.5:c.207C>T, NM_004580.4:c.207C>T, NM_183235.3:c.207C>T, NM_183235.2:c.207C>T, NM_183236.3:c.207C>T, NM_183236.2:c.207C>T, NM_183234.2:c.207C>T, XM_005254576.6:c.207C>T, XM_005254576.5:c.207C>T, XM_005254576.4:c.207C>T, XM_005254576.3:c.207C>T, XM_005254576.2:c.207C>T, XM_005254576.1:c.207C>T, XM_011521855.4:c.207C>T, XM_011521855.3:c.207C>T, XM_011521855.2:c.207C>T, XM_011521855.1:c.207C>T, XM_011521856.3:c.207C>T, XM_011521856.2:c.207C>T, XM_011521856.1:c.207C>T, XM_047432918.1:c.207C>T, XM_047432922.1:c.207C>T, XM_047432916.1:c.207C>T, XM_047432919.1:c.207C>T, XM_011521852.1:c.207C>T, XM_047432917.1:c.207C>T, XM_047432920.1:c.207C>T, XM_047432923.1:c.207C>T, XM_011521854.1:c.207C>T, XM_047432921.1:c.207C>T

          5.

          rs1478402636 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CTC>- [Show Flanks]
            Chromosome:
            15:55223932 (GRCh38)
            15:55516130 (GRCh37)
            Canonical SPDI:
            NC_000015.10:55223931:CTC:
            Gene:
            RAB27A (Varview)
            Functional Consequence:
            coding_sequence_variant,inframe_indel
            Clinical significance:
            likely-pathogenic
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            HGVS:
            NC_000015.10:g.55223932_55223934del, NC_000015.9:g.55516130_55516132del, NG_009103.1:g.70870_70872del, NM_004580.5:c.422_424del, NM_004580.4:c.422_424del, NM_183235.3:c.422_424del, NM_183235.2:c.422_424del, NM_183236.3:c.422_424del, NM_183236.2:c.422_424del, NM_183234.2:c.422_424del, XM_005254576.6:c.422_424del, XM_005254576.5:c.422_424del, XM_005254576.4:c.422_424del, XM_005254576.3:c.422_424del, XM_005254576.2:c.422_424del, XM_005254576.1:c.422_424del, XM_011521855.4:c.422_424del, XM_011521855.3:c.422_424del, XM_011521855.2:c.422_424del, XM_011521855.1:c.422_424del, XM_011521856.3:c.422_424del, XM_011521856.2:c.422_424del, XM_011521856.1:c.422_424del, XM_047432918.1:c.422_424del, XM_047432922.1:c.422_424del, XM_047432916.1:c.422_424del, XM_047432919.1:c.422_424del, XM_011521852.1:c.422_424del, XM_047432917.1:c.422_424del, XM_047432920.1:c.422_424del, XM_047432923.1:c.422_424del, XM_011521854.1:c.422_424del, XM_047432921.1:c.422_424del, NP_004571.2:p.Arg141_Val142delinsIle, NP_899058.1:p.Arg141_Val142delinsIle, NP_899059.1:p.Arg141_Val142delinsIle, NP_899057.1:p.Arg141_Val142delinsIle, XP_005254633.1:p.Arg141_Val142delinsIle, XP_011520157.1:p.Arg141_Val142delinsIle, XP_011520158.1:p.Arg141_Val142delinsIle, XP_047288874.1:p.Arg141_Val142delinsIle, XP_047288878.1:p.Arg141_Val142delinsIle, XP_047288872.1:p.Arg141_Val142delinsIle, XP_047288875.1:p.Arg141_Val142delinsIle, XP_011520154.1:p.Arg141_Val142delinsIle, XP_047288873.1:p.Arg141_Val142delinsIle, XP_047288876.1:p.Arg141_Val142delinsIle, XP_047288879.1:p.Arg141_Val142delinsIle, XP_011520156.1:p.Arg141_Val142delinsIle, XP_047288877.1:p.Arg141_Val142delinsIle

            6.

            rs1477388225 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              15:55228632 (GRCh38)
              15:55520830 (GRCh37)
              Canonical SPDI:
              NC_000015.10:55228631:A:C
              Gene:
              RAB27A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000015.10:g.55228632A>C, NC_000015.9:g.55520830A>C, NG_009103.1:g.66172T>G, NM_004580.5:c.320T>G, NM_004580.4:c.320T>G, NM_183235.3:c.320T>G, NM_183235.2:c.320T>G, NM_183236.3:c.320T>G, NM_183236.2:c.320T>G, NM_183234.2:c.320T>G, XM_005254576.6:c.320T>G, XM_005254576.5:c.320T>G, XM_005254576.4:c.320T>G, XM_005254576.3:c.320T>G, XM_005254576.2:c.320T>G, XM_005254576.1:c.320T>G, XM_011521855.4:c.320T>G, XM_011521855.3:c.320T>G, XM_011521855.2:c.320T>G, XM_011521855.1:c.320T>G, XM_011521856.3:c.320T>G, XM_011521856.2:c.320T>G, XM_011521856.1:c.320T>G, XM_047432918.1:c.320T>G, XM_047432922.1:c.320T>G, XM_047432916.1:c.320T>G, XM_047432919.1:c.320T>G, XM_011521852.1:c.320T>G, XM_047432917.1:c.320T>G, XM_047432920.1:c.320T>G, XM_047432923.1:c.320T>G, XM_011521854.1:c.320T>G, XM_047432921.1:c.320T>G, NP_004571.2:p.Phe107Cys, NP_899058.1:p.Phe107Cys, NP_899059.1:p.Phe107Cys, NP_899057.1:p.Phe107Cys, XP_005254633.1:p.Phe107Cys, XP_011520157.1:p.Phe107Cys, XP_011520158.1:p.Phe107Cys, XP_047288874.1:p.Phe107Cys, XP_047288878.1:p.Phe107Cys, XP_047288872.1:p.Phe107Cys, XP_047288875.1:p.Phe107Cys, XP_011520154.1:p.Phe107Cys, XP_047288873.1:p.Phe107Cys, XP_047288876.1:p.Phe107Cys, XP_047288879.1:p.Phe107Cys, XP_011520156.1:p.Phe107Cys, XP_047288877.1:p.Phe107Cys

              7.

              rs1472655424 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                15:55205523 (GRCh38)
                15:55497721 (GRCh37)
                Canonical SPDI:
                NC_000015.10:55205522:C:G
                Gene:
                RAB27A (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.55205523C>G, NC_000015.9:g.55497721C>G, NG_009103.1:g.89281G>C, NM_004580.5:c.650G>C, NM_004580.4:c.650G>C, NM_183235.3:c.650G>C, NM_183235.2:c.650G>C, NM_183236.3:c.650G>C, NM_183236.2:c.650G>C, NM_183234.2:c.650G>C, XM_005254576.6:c.650G>C, XM_005254576.5:c.650G>C, XM_005254576.4:c.650G>C, XM_005254576.3:c.650G>C, XM_005254576.2:c.650G>C, XM_005254576.1:c.650G>C, XM_011521855.4:c.650G>C, XM_011521855.3:c.650G>C, XM_011521855.2:c.650G>C, XM_011521855.1:c.650G>C, XM_011521856.3:c.650G>C, XM_011521856.2:c.650G>C, XM_011521856.1:c.650G>C, XM_047432918.1:c.650G>C, XM_047432922.1:c.650G>C, XM_047432916.1:c.650G>C, XM_047432919.1:c.650G>C, XM_011521852.1:c.650G>C, XM_047432917.1:c.650G>C, XM_047432920.1:c.650G>C, XM_047432923.1:c.650G>C, XM_011521854.1:c.650G>C, XM_047432921.1:c.650G>C, NP_004571.2:p.Gly217Ala, NP_899058.1:p.Gly217Ala, NP_899059.1:p.Gly217Ala, NP_899057.1:p.Gly217Ala, XP_005254633.1:p.Gly217Ala, XP_011520157.1:p.Gly217Ala, XP_011520158.1:p.Gly217Ala, XP_047288874.1:p.Gly217Ala, XP_047288878.1:p.Gly217Ala, XP_047288872.1:p.Gly217Ala, XP_047288875.1:p.Gly217Ala, XP_011520154.1:p.Gly217Ala, XP_047288873.1:p.Gly217Ala, XP_047288876.1:p.Gly217Ala, XP_047288879.1:p.Gly217Ala, XP_011520156.1:p.Gly217Ala, XP_047288877.1:p.Gly217Ala

                8.

                rs1470986814 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:55205612 (GRCh38)
                  15:55497810 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:55205611:C:T
                  Gene:
                  RAB27A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000015.10:g.55205612C>T, NC_000015.9:g.55497810C>T, NG_009103.1:g.89192G>A, NM_004580.5:c.561G>A, NM_004580.4:c.561G>A, NM_183235.3:c.561G>A, NM_183235.2:c.561G>A, NM_183236.3:c.561G>A, NM_183236.2:c.561G>A, NM_183234.2:c.561G>A, XM_005254576.6:c.561G>A, XM_005254576.5:c.561G>A, XM_005254576.4:c.561G>A, XM_005254576.3:c.561G>A, XM_005254576.2:c.561G>A, XM_005254576.1:c.561G>A, XM_011521855.4:c.561G>A, XM_011521855.3:c.561G>A, XM_011521855.2:c.561G>A, XM_011521855.1:c.561G>A, XM_011521856.3:c.561G>A, XM_011521856.2:c.561G>A, XM_011521856.1:c.561G>A, XM_047432918.1:c.561G>A, XM_047432922.1:c.561G>A, XM_047432916.1:c.561G>A, XM_047432919.1:c.561G>A, XM_011521852.1:c.561G>A, XM_047432917.1:c.561G>A, XM_047432920.1:c.561G>A, XM_047432923.1:c.561G>A, XM_011521854.1:c.561G>A, XM_047432921.1:c.561G>A

                  9.

                  rs1466660727 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    15:55205531 (GRCh38)
                    15:55497729 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:55205530:C:A
                    Gene:
                    RAB27A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.55205531C>A, NC_000015.9:g.55497729C>A, NG_009103.1:g.89273G>T, NM_004580.5:c.642G>T, NM_004580.4:c.642G>T, NM_183235.3:c.642G>T, NM_183235.2:c.642G>T, NM_183236.3:c.642G>T, NM_183236.2:c.642G>T, NM_183234.2:c.642G>T, XM_005254576.6:c.642G>T, XM_005254576.5:c.642G>T, XM_005254576.4:c.642G>T, XM_005254576.3:c.642G>T, XM_005254576.2:c.642G>T, XM_005254576.1:c.642G>T, XM_011521855.4:c.642G>T, XM_011521855.3:c.642G>T, XM_011521855.2:c.642G>T, XM_011521855.1:c.642G>T, XM_011521856.3:c.642G>T, XM_011521856.2:c.642G>T, XM_011521856.1:c.642G>T, XM_047432918.1:c.642G>T, XM_047432922.1:c.642G>T, XM_047432916.1:c.642G>T, XM_047432919.1:c.642G>T, XM_011521852.1:c.642G>T, XM_047432917.1:c.642G>T, XM_047432920.1:c.642G>T, XM_047432923.1:c.642G>T, XM_011521854.1:c.642G>T, XM_047432921.1:c.642G>T, NP_004571.2:p.Lys214Asn, NP_899058.1:p.Lys214Asn, NP_899059.1:p.Lys214Asn, NP_899057.1:p.Lys214Asn, XP_005254633.1:p.Lys214Asn, XP_011520157.1:p.Lys214Asn, XP_011520158.1:p.Lys214Asn, XP_047288874.1:p.Lys214Asn, XP_047288878.1:p.Lys214Asn, XP_047288872.1:p.Lys214Asn, XP_047288875.1:p.Lys214Asn, XP_011520154.1:p.Lys214Asn, XP_047288873.1:p.Lys214Asn, XP_047288876.1:p.Lys214Asn, XP_047288879.1:p.Lys214Asn, XP_011520156.1:p.Lys214Asn, XP_047288877.1:p.Lys214Asn

                    10.

                    rs1466620676 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      15:55234880 (GRCh38)
                      15:55527078 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:55234879:C:A
                      Gene:
                      RAB27A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000142/2 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000015.10:g.55234880C>A, NC_000015.9:g.55527078C>A, NG_009103.1:g.59924G>T, NM_004580.5:c.55G>T, NM_004580.4:c.55G>T, NM_183235.3:c.55G>T, NM_183235.2:c.55G>T, NM_183236.3:c.55G>T, NM_183236.2:c.55G>T, NM_183234.2:c.55G>T, XM_005254576.6:c.55G>T, XM_005254576.5:c.55G>T, XM_005254576.4:c.55G>T, XM_005254576.3:c.55G>T, XM_005254576.2:c.55G>T, XM_005254576.1:c.55G>T, XM_011521855.4:c.55G>T, XM_011521855.3:c.55G>T, XM_011521855.2:c.55G>T, XM_011521855.1:c.55G>T, XM_011521856.3:c.55G>T, XM_011521856.2:c.55G>T, XM_011521856.1:c.55G>T, XM_047432918.1:c.55G>T, XM_047432922.1:c.55G>T, XM_047432916.1:c.55G>T, XM_047432919.1:c.55G>T, XM_011521852.1:c.55G>T, XM_047432917.1:c.55G>T, XM_047432920.1:c.55G>T, XM_047432923.1:c.55G>T, XM_011521854.1:c.55G>T, XM_047432921.1:c.55G>T, NP_004571.2:p.Gly19Cys, NP_899058.1:p.Gly19Cys, NP_899059.1:p.Gly19Cys, NP_899057.1:p.Gly19Cys, XP_005254633.1:p.Gly19Cys, XP_011520157.1:p.Gly19Cys, XP_011520158.1:p.Gly19Cys, XP_047288874.1:p.Gly19Cys, XP_047288878.1:p.Gly19Cys, XP_047288872.1:p.Gly19Cys, XP_047288875.1:p.Gly19Cys, XP_011520154.1:p.Gly19Cys, XP_047288873.1:p.Gly19Cys, XP_047288876.1:p.Gly19Cys, XP_047288879.1:p.Gly19Cys, XP_011520156.1:p.Gly19Cys, XP_047288877.1:p.Gly19Cys

                      11.

                      rs1464629092 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:55205666 (GRCh38)
                        15:55497864 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:55205665:G:A
                        Gene:
                        RAB27A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_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_000015.10:g.55205666G>A, NC_000015.9:g.55497864G>A, NG_009103.1:g.89138C>T, NM_004580.5:c.507C>T, NM_004580.4:c.507C>T, NM_183235.3:c.507C>T, NM_183235.2:c.507C>T, NM_183236.3:c.507C>T, NM_183236.2:c.507C>T, NM_183234.2:c.507C>T, XM_005254576.6:c.507C>T, XM_005254576.5:c.507C>T, XM_005254576.4:c.507C>T, XM_005254576.3:c.507C>T, XM_005254576.2:c.507C>T, XM_005254576.1:c.507C>T, XM_011521855.4:c.507C>T, XM_011521855.3:c.507C>T, XM_011521855.2:c.507C>T, XM_011521855.1:c.507C>T, XM_011521856.3:c.507C>T, XM_011521856.2:c.507C>T, XM_011521856.1:c.507C>T, XM_047432918.1:c.507C>T, XM_047432922.1:c.507C>T, XM_047432916.1:c.507C>T, XM_047432919.1:c.507C>T, XM_011521852.1:c.507C>T, XM_047432917.1:c.507C>T, XM_047432920.1:c.507C>T, XM_047432923.1:c.507C>T, XM_011521854.1:c.507C>T, XM_047432921.1:c.507C>T

                        12.

                        rs1461262502 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          15:55234868 (GRCh38)
                          15:55527066 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:55234867:T:A
                          Gene:
                          RAB27A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000029/4 (GnomAD)
                          A=0.000042/11 (TOPMED)
                          HGVS:
                          NC_000015.10:g.55234868T>A, NC_000015.9:g.55527066T>A, NG_009103.1:g.59936A>T, NM_004580.5:c.67A>T, NM_004580.4:c.67A>T, NM_183235.3:c.67A>T, NM_183235.2:c.67A>T, NM_183236.3:c.67A>T, NM_183236.2:c.67A>T, NM_183234.2:c.67A>T, XM_005254576.6:c.67A>T, XM_005254576.5:c.67A>T, XM_005254576.4:c.67A>T, XM_005254576.3:c.67A>T, XM_005254576.2:c.67A>T, XM_005254576.1:c.67A>T, XM_011521855.4:c.67A>T, XM_011521855.3:c.67A>T, XM_011521855.2:c.67A>T, XM_011521855.1:c.67A>T, XM_011521856.3:c.67A>T, XM_011521856.2:c.67A>T, XM_011521856.1:c.67A>T, XM_047432918.1:c.67A>T, XM_047432922.1:c.67A>T, XM_047432916.1:c.67A>T, XM_047432919.1:c.67A>T, XM_011521852.1:c.67A>T, XM_047432917.1:c.67A>T, XM_047432920.1:c.67A>T, XM_047432923.1:c.67A>T, XM_011521854.1:c.67A>T, XM_047432921.1:c.67A>T, NP_004571.2:p.Thr23Ser, NP_899058.1:p.Thr23Ser, NP_899059.1:p.Thr23Ser, NP_899057.1:p.Thr23Ser, XP_005254633.1:p.Thr23Ser, XP_011520157.1:p.Thr23Ser, XP_011520158.1:p.Thr23Ser, XP_047288874.1:p.Thr23Ser, XP_047288878.1:p.Thr23Ser, XP_047288872.1:p.Thr23Ser, XP_047288875.1:p.Thr23Ser, XP_011520154.1:p.Thr23Ser, XP_047288873.1:p.Thr23Ser, XP_047288876.1:p.Thr23Ser, XP_047288879.1:p.Thr23Ser, XP_011520156.1:p.Thr23Ser, XP_047288877.1:p.Thr23Ser

                          13.

                          rs1445499017 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:55234862 (GRCh38)
                            15:55527060 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:55234861:C:T
                            Gene:
                            RAB27A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000015.10:g.55234862C>T, NC_000015.9:g.55527060C>T, NG_009103.1:g.59942G>A, NM_004580.5:c.73G>A, NM_004580.4:c.73G>A, NM_183235.3:c.73G>A, NM_183235.2:c.73G>A, NM_183236.3:c.73G>A, NM_183236.2:c.73G>A, NM_183234.2:c.73G>A, XM_005254576.6:c.73G>A, XM_005254576.5:c.73G>A, XM_005254576.4:c.73G>A, XM_005254576.3:c.73G>A, XM_005254576.2:c.73G>A, XM_005254576.1:c.73G>A, XM_011521855.4:c.73G>A, XM_011521855.3:c.73G>A, XM_011521855.2:c.73G>A, XM_011521855.1:c.73G>A, XM_011521856.3:c.73G>A, XM_011521856.2:c.73G>A, XM_011521856.1:c.73G>A, XM_047432918.1:c.73G>A, XM_047432922.1:c.73G>A, XM_047432916.1:c.73G>A, XM_047432919.1:c.73G>A, XM_011521852.1:c.73G>A, XM_047432917.1:c.73G>A, XM_047432920.1:c.73G>A, XM_047432923.1:c.73G>A, XM_011521854.1:c.73G>A, XM_047432921.1:c.73G>A, NP_004571.2:p.Val25Ile, NP_899058.1:p.Val25Ile, NP_899059.1:p.Val25Ile, NP_899057.1:p.Val25Ile, XP_005254633.1:p.Val25Ile, XP_011520157.1:p.Val25Ile, XP_011520158.1:p.Val25Ile, XP_047288874.1:p.Val25Ile, XP_047288878.1:p.Val25Ile, XP_047288872.1:p.Val25Ile, XP_047288875.1:p.Val25Ile, XP_011520154.1:p.Val25Ile, XP_047288873.1:p.Val25Ile, XP_047288876.1:p.Val25Ile, XP_047288879.1:p.Val25Ile, XP_011520156.1:p.Val25Ile, XP_047288877.1:p.Val25Ile

                            14.

                            rs1437756845 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:55228679 (GRCh38)
                              15:55520877 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:55228678:A:G
                              Gene:
                              RAB27A (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000015.10:g.55228679A>G, NC_000015.9:g.55520877A>G, NG_009103.1:g.66125T>C, NM_004580.5:c.273T>C, NM_004580.4:c.273T>C, NM_183235.3:c.273T>C, NM_183235.2:c.273T>C, NM_183236.3:c.273T>C, NM_183236.2:c.273T>C, NM_183234.2:c.273T>C, XM_005254576.6:c.273T>C, XM_005254576.5:c.273T>C, XM_005254576.4:c.273T>C, XM_005254576.3:c.273T>C, XM_005254576.2:c.273T>C, XM_005254576.1:c.273T>C, XM_011521855.4:c.273T>C, XM_011521855.3:c.273T>C, XM_011521855.2:c.273T>C, XM_011521855.1:c.273T>C, XM_011521856.3:c.273T>C, XM_011521856.2:c.273T>C, XM_011521856.1:c.273T>C, XM_047432918.1:c.273T>C, XM_047432922.1:c.273T>C, XM_047432916.1:c.273T>C, XM_047432919.1:c.273T>C, XM_011521852.1:c.273T>C, XM_047432917.1:c.273T>C, XM_047432920.1:c.273T>C, XM_047432923.1:c.273T>C, XM_011521854.1:c.273T>C, XM_047432921.1:c.273T>C

                              15.

                              rs1434577440 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                15:55205556 (GRCh38)
                                15:55497754 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:55205555:G:C
                                Gene:
                                RAB27A (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_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_000015.10:g.55205556G>C, NC_000015.9:g.55497754G>C, NG_009103.1:g.89248C>G, NM_004580.5:c.617C>G, NM_004580.4:c.617C>G, NM_183235.3:c.617C>G, NM_183235.2:c.617C>G, NM_183236.3:c.617C>G, NM_183236.2:c.617C>G, NM_183234.2:c.617C>G, XM_005254576.6:c.617C>G, XM_005254576.5:c.617C>G, XM_005254576.4:c.617C>G, XM_005254576.3:c.617C>G, XM_005254576.2:c.617C>G, XM_005254576.1:c.617C>G, XM_011521855.4:c.617C>G, XM_011521855.3:c.617C>G, XM_011521855.2:c.617C>G, XM_011521855.1:c.617C>G, XM_011521856.3:c.617C>G, XM_011521856.2:c.617C>G, XM_011521856.1:c.617C>G, XM_047432918.1:c.617C>G, XM_047432922.1:c.617C>G, XM_047432916.1:c.617C>G, XM_047432919.1:c.617C>G, XM_011521852.1:c.617C>G, XM_047432917.1:c.617C>G, XM_047432920.1:c.617C>G, XM_047432923.1:c.617C>G, XM_011521854.1:c.617C>G, XM_047432921.1:c.617C>G, NP_004571.2:p.Ser206Cys, NP_899058.1:p.Ser206Cys, NP_899059.1:p.Ser206Cys, NP_899057.1:p.Ser206Cys, XP_005254633.1:p.Ser206Cys, XP_011520157.1:p.Ser206Cys, XP_011520158.1:p.Ser206Cys, XP_047288874.1:p.Ser206Cys, XP_047288878.1:p.Ser206Cys, XP_047288872.1:p.Ser206Cys, XP_047288875.1:p.Ser206Cys, XP_011520154.1:p.Ser206Cys, XP_047288873.1:p.Ser206Cys, XP_047288876.1:p.Ser206Cys, XP_047288879.1:p.Ser206Cys, XP_011520156.1:p.Ser206Cys, XP_047288877.1:p.Ser206Cys

                                16.

                                rs1431948941 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GAA>- [Show Flanks]
                                  Chromosome:
                                  15:55228666 (GRCh38)
                                  15:55520864 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:55228661:AGAAGAA:AGAA
                                  Gene:
                                  RAB27A (Varview)
                                  Functional Consequence:
                                  inframe_deletion,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  AGAA=0./0 (ALFA)
                                  HGVS:
                                  NC_000015.10:g.55228663GAA[1], NC_000015.9:g.55520861GAA[1], NG_009103.1:g.66137TCT[1], NM_004580.5:c.285TCT[1], NM_004580.4:c.285TCT[1], NM_183235.3:c.285TCT[1], NM_183235.2:c.285TCT[1], NM_183236.3:c.285TCT[1], NM_183236.2:c.285TCT[1], NM_183234.2:c.285TCT[1], XM_005254576.6:c.285TCT[1], XM_005254576.5:c.285TCT[1], XM_005254576.4:c.285TCT[1], XM_005254576.3:c.285TCT[1], XM_005254576.2:c.285TCT[1], XM_005254576.1:c.285TCT[1], XM_011521855.4:c.285TCT[1], XM_011521855.3:c.285TCT[1], XM_011521855.2:c.285TCT[1], XM_011521855.1:c.285TCT[1], XM_011521856.3:c.285TCT[1], XM_011521856.2:c.285TCT[1], XM_011521856.1:c.285TCT[1], XM_047432918.1:c.285TCT[1], XM_047432922.1:c.285TCT[1], XM_047432916.1:c.285TCT[1], XM_047432919.1:c.285TCT[1], XM_011521852.1:c.285TCT[1], XM_047432917.1:c.285TCT[1], XM_047432920.1:c.285TCT[1], XM_047432923.1:c.285TCT[1], XM_011521854.1:c.285TCT[1], XM_047432921.1:c.285TCT[1], NP_004571.2:p.Leu98del, NP_899058.1:p.Leu98del, NP_899059.1:p.Leu98del, NP_899057.1:p.Leu98del, XP_005254633.1:p.Leu98del, XP_011520157.1:p.Leu98del, XP_011520158.1:p.Leu98del, XP_047288874.1:p.Leu98del, XP_047288878.1:p.Leu98del, XP_047288872.1:p.Leu98del, XP_047288875.1:p.Leu98del, XP_011520154.1:p.Leu98del, XP_047288873.1:p.Leu98del, XP_047288876.1:p.Leu98del, XP_047288879.1:p.Leu98del, XP_011520156.1:p.Leu98del, XP_047288877.1:p.Leu98del

                                  17.

                                  rs1426999819 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:55205591 (GRCh38)
                                    15:55497789 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:55205590:A:G
                                    Gene:
                                    RAB27A (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000015.10:g.55205591A>G, NC_000015.9:g.55497789A>G, NG_009103.1:g.89213T>C, NM_004580.5:c.582T>C, NM_004580.4:c.582T>C, NM_183235.3:c.582T>C, NM_183235.2:c.582T>C, NM_183236.3:c.582T>C, NM_183236.2:c.582T>C, NM_183234.2:c.582T>C, XM_005254576.6:c.582T>C, XM_005254576.5:c.582T>C, XM_005254576.4:c.582T>C, XM_005254576.3:c.582T>C, XM_005254576.2:c.582T>C, XM_005254576.1:c.582T>C, XM_011521855.4:c.582T>C, XM_011521855.3:c.582T>C, XM_011521855.2:c.582T>C, XM_011521855.1:c.582T>C, XM_011521856.3:c.582T>C, XM_011521856.2:c.582T>C, XM_011521856.1:c.582T>C, XM_047432918.1:c.582T>C, XM_047432922.1:c.582T>C, XM_047432916.1:c.582T>C, XM_047432919.1:c.582T>C, XM_011521852.1:c.582T>C, XM_047432917.1:c.582T>C, XM_047432920.1:c.582T>C, XM_047432923.1:c.582T>C, XM_011521854.1:c.582T>C, XM_047432921.1:c.582T>C

                                    18.

                                    rs1422163597 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:55205610 (GRCh38)
                                      15:55497808 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:55205609:C:T
                                      Gene:
                                      RAB27A (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.55205610C>T, NC_000015.9:g.55497808C>T, NG_009103.1:g.89194G>A, NM_004580.5:c.563G>A, NM_004580.4:c.563G>A, NM_183235.3:c.563G>A, NM_183235.2:c.563G>A, NM_183236.3:c.563G>A, NM_183236.2:c.563G>A, NM_183234.2:c.563G>A, XM_005254576.6:c.563G>A, XM_005254576.5:c.563G>A, XM_005254576.4:c.563G>A, XM_005254576.3:c.563G>A, XM_005254576.2:c.563G>A, XM_005254576.1:c.563G>A, XM_011521855.4:c.563G>A, XM_011521855.3:c.563G>A, XM_011521855.2:c.563G>A, XM_011521855.1:c.563G>A, XM_011521856.3:c.563G>A, XM_011521856.2:c.563G>A, XM_011521856.1:c.563G>A, XM_047432918.1:c.563G>A, XM_047432922.1:c.563G>A, XM_047432916.1:c.563G>A, XM_047432919.1:c.563G>A, XM_011521852.1:c.563G>A, XM_047432917.1:c.563G>A, XM_047432920.1:c.563G>A, XM_047432923.1:c.563G>A, XM_011521854.1:c.563G>A, XM_047432921.1:c.563G>A, NP_004571.2:p.Cys188Tyr, NP_899058.1:p.Cys188Tyr, NP_899059.1:p.Cys188Tyr, NP_899057.1:p.Cys188Tyr, XP_005254633.1:p.Cys188Tyr, XP_011520157.1:p.Cys188Tyr, XP_011520158.1:p.Cys188Tyr, XP_047288874.1:p.Cys188Tyr, XP_047288878.1:p.Cys188Tyr, XP_047288872.1:p.Cys188Tyr, XP_047288875.1:p.Cys188Tyr, XP_011520154.1:p.Cys188Tyr, XP_047288873.1:p.Cys188Tyr, XP_047288876.1:p.Cys188Tyr, XP_047288879.1:p.Cys188Tyr, XP_011520156.1:p.Cys188Tyr, XP_047288877.1:p.Cys188Tyr

                                      19.

                                      rs1418292027 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        15:55228654 (GRCh38)
                                        15:55520852 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:55228653:C:G
                                        Gene:
                                        RAB27A (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.55228654C>G, NC_000015.9:g.55520852C>G, NG_009103.1:g.66150G>C, NM_004580.5:c.298G>C, NM_004580.4:c.298G>C, NM_183235.3:c.298G>C, NM_183235.2:c.298G>C, NM_183236.3:c.298G>C, NM_183236.2:c.298G>C, NM_183234.2:c.298G>C, XM_005254576.6:c.298G>C, XM_005254576.5:c.298G>C, XM_005254576.4:c.298G>C, XM_005254576.3:c.298G>C, XM_005254576.2:c.298G>C, XM_005254576.1:c.298G>C, XM_011521855.4:c.298G>C, XM_011521855.3:c.298G>C, XM_011521855.2:c.298G>C, XM_011521855.1:c.298G>C, XM_011521856.3:c.298G>C, XM_011521856.2:c.298G>C, XM_011521856.1:c.298G>C, XM_047432918.1:c.298G>C, XM_047432922.1:c.298G>C, XM_047432916.1:c.298G>C, XM_047432919.1:c.298G>C, XM_011521852.1:c.298G>C, XM_047432917.1:c.298G>C, XM_047432920.1:c.298G>C, XM_047432923.1:c.298G>C, XM_011521854.1:c.298G>C, XM_047432921.1:c.298G>C, NP_004571.2:p.Asp100His, NP_899058.1:p.Asp100His, NP_899059.1:p.Asp100His, NP_899057.1:p.Asp100His, XP_005254633.1:p.Asp100His, XP_011520157.1:p.Asp100His, XP_011520158.1:p.Asp100His, XP_047288874.1:p.Asp100His, XP_047288878.1:p.Asp100His, XP_047288872.1:p.Asp100His, XP_047288875.1:p.Asp100His, XP_011520154.1:p.Asp100His, XP_047288873.1:p.Asp100His, XP_047288876.1:p.Asp100His, XP_047288879.1:p.Asp100His, XP_011520156.1:p.Asp100His, XP_047288877.1:p.Asp100His

                                        20.

                                        rs1416818050 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          15:55234807 (GRCh38)
                                          15:55527005 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:55234806:C:T
                                          Gene:
                                          RAB27A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.55234807C>T, NC_000015.9:g.55527005C>T, NG_009103.1:g.59997G>A, NM_004580.5:c.128G>A, NM_004580.4:c.128G>A, NM_183235.3:c.128G>A, NM_183235.2:c.128G>A, NM_183236.3:c.128G>A, NM_183236.2:c.128G>A, NM_183234.2:c.128G>A, XM_005254576.6:c.128G>A, XM_005254576.5:c.128G>A, XM_005254576.4:c.128G>A, XM_005254576.3:c.128G>A, XM_005254576.2:c.128G>A, XM_005254576.1:c.128G>A, XM_011521855.4:c.128G>A, XM_011521855.3:c.128G>A, XM_011521855.2:c.128G>A, XM_011521855.1:c.128G>A, XM_011521856.3:c.128G>A, XM_011521856.2:c.128G>A, XM_011521856.1:c.128G>A, XM_047432918.1:c.128G>A, XM_047432922.1:c.128G>A, XM_047432916.1:c.128G>A, XM_047432919.1:c.128G>A, XM_011521852.1:c.128G>A, XM_047432917.1:c.128G>A, XM_047432920.1:c.128G>A, XM_047432923.1:c.128G>A, XM_011521854.1:c.128G>A, XM_047432921.1:c.128G>A, NP_004571.2:p.Gly43Asp, NP_899058.1:p.Gly43Asp, NP_899059.1:p.Gly43Asp, NP_899057.1:p.Gly43Asp, XP_005254633.1:p.Gly43Asp, XP_011520157.1:p.Gly43Asp, XP_011520158.1:p.Gly43Asp, XP_047288874.1:p.Gly43Asp, XP_047288878.1:p.Gly43Asp, XP_047288872.1:p.Gly43Asp, XP_047288875.1:p.Gly43Asp, XP_011520154.1:p.Gly43Asp, XP_047288873.1:p.Gly43Asp, XP_047288876.1:p.Gly43Asp, XP_047288879.1:p.Gly43Asp, XP_011520156.1:p.Gly43Asp, XP_047288877.1:p.Gly43Asp

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