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Items: 1 to 20 of 634

1.

rs1490275960 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:17161000 (GRCh38)
    3:17202492 (GRCh37)
    Canonical SPDI:
    NC_000003.12:17160999:T:C
    Gene:
    TBC1D5 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.17161000T>C, NC_000003.11:g.17202492T>C, XM_011534283.4:c.2417A>G, XM_011534283.3:c.2417A>G, XM_011534283.2:c.2417A>G, XM_011534283.1:c.2417A>G, XM_017007553.3:c.2417A>G, XM_017007553.2:c.2417A>G, XM_017007553.1:c.2417A>G, XM_017007555.3:c.2417A>G, XM_017007555.2:c.2417A>G, XM_017007555.1:c.2417A>G, XM_011534284.3:c.2417A>G, XM_011534284.2:c.2417A>G, XM_011534284.1:c.2417A>G, NM_014744.2:c.2351A>G, XM_011534281.2:c.2417A>G, XM_011534281.1:c.2417A>G, XM_017007556.2:c.2417A>G, XM_017007556.1:c.2417A>G, NM_001349079.2:c.2351A>G, NM_001349079.1:c.2351A>G, NM_001349088.2:c.1943A>G, NM_001349088.1:c.1943A>G, NM_001349082.2:c.2009A>G, NM_001349082.1:c.2009A>G, NM_001349084.2:c.2009A>G, NM_001349084.1:c.2009A>G, NM_001349085.2:c.2009A>G, NM_001349085.1:c.2009A>G, NM_001349076.2:c.2351A>G, NM_001349076.1:c.2351A>G, NM_001349075.2:c.2417A>G, NM_001349075.1:c.2417A>G, NM_001134381.2:c.2417A>G, NM_001134381.1:c.2417A>G, NM_001349074.2:c.2417A>G, NM_001349074.1:c.2417A>G, NM_001349077.2:c.2351A>G, NM_001349077.1:c.2351A>G, NM_001349081.2:c.2372A>G, NM_001349081.1:c.2372A>G, NM_001349090.2:c.1943A>G, NM_001349090.1:c.1943A>G, NM_001349073.2:c.2417A>G, NM_001349073.1:c.2417A>G, NM_001349078.2:c.2351A>G, NM_001349078.1:c.2351A>G, NM_001349083.2:c.2009A>G, NM_001349083.1:c.2009A>G, NM_001349089.2:c.1943A>G, NM_001349089.1:c.1943A>G, NM_001349080.2:c.2351A>G, NM_001349080.1:c.2351A>G, NM_001349086.2:c.2009A>G, NM_001349086.1:c.2009A>G, NM_001349087.2:c.1943A>G, NM_001349087.1:c.1943A>G, NM_001349091.2:c.1943A>G, NM_001349091.1:c.1943A>G, XM_047449300.1:c.2351A>G, XM_047449316.1:c.2351A>G, XM_047449318.1:c.2351A>G, XM_047449292.1:c.2351A>G, XM_047449306.1:c.2351A>G, XM_047449297.1:c.2351A>G, XM_047449310.1:c.2351A>G, XM_047449295.1:c.2351A>G, XM_047449285.1:c.2417A>G, XM_047449288.1:c.2417A>G, XM_047449287.1:c.2417A>G, XM_047449302.1:c.2351A>G, XM_047449319.1:c.2351A>G, XM_047449299.1:c.2351A>G, XM_047449309.1:c.2351A>G, XM_047449298.1:c.2351A>G, XM_047449289.1:c.2417A>G, XM_047449303.1:c.2351A>G, XM_047449313.1:c.2351A>G, XM_047449290.1:c.2417A>G, XM_047449311.1:c.2351A>G, XM_047449312.1:c.2351A>G, XM_047449317.1:c.2351A>G, XM_047449308.1:c.2351A>G, XM_047449301.1:c.2351A>G, XM_047449315.1:c.2351A>G, XM_047449294.1:c.2351A>G, XM_047449286.1:c.2417A>G, XM_047449284.1:c.2417A>G, NM_001134380.1:c.2351A>G, XM_047449305.1:c.2351A>G, XM_047449291.1:c.2351A>G, XM_047449304.1:c.2351A>G, XM_047449293.1:c.2351A>G, XM_047449314.1:c.2351A>G, XM_047449296.1:c.2351A>G, XP_011532585.1:p.Asp806Gly, XP_016863042.1:p.Asp806Gly, XP_016863044.1:p.Asp806Gly, XP_011532586.1:p.Asp806Gly, NP_055559.1:p.Asp784Gly, XP_011532583.1:p.Asp806Gly, XP_016863045.1:p.Asp806Gly, NP_001336008.1:p.Asp784Gly, NP_001336017.1:p.Asp648Gly, NP_001336011.1:p.Asp670Gly, NP_001336013.1:p.Asp670Gly, NP_001336014.1:p.Asp670Gly, NP_001336005.1:p.Asp784Gly, NP_001336004.1:p.Asp806Gly, NP_001127853.1:p.Asp806Gly, NP_001336003.1:p.Asp806Gly, NP_001336006.1:p.Asp784Gly, NP_001336010.1:p.Asp791Gly, NP_001336019.1:p.Asp648Gly, NP_001336002.1:p.Asp806Gly, NP_001336007.1:p.Asp784Gly, NP_001336012.1:p.Asp670Gly, NP_001336018.1:p.Asp648Gly, NP_001336009.1:p.Asp784Gly, NP_001336015.1:p.Asp670Gly, NP_001336016.1:p.Asp648Gly, NP_001336020.1:p.Asp648Gly, XP_047305256.1:p.Asp784Gly, XP_047305272.1:p.Asp784Gly, XP_047305274.1:p.Asp784Gly, XP_047305248.1:p.Asp784Gly, XP_047305262.1:p.Asp784Gly, XP_047305253.1:p.Asp784Gly, XP_047305266.1:p.Asp784Gly, XP_047305251.1:p.Asp784Gly, XP_047305241.1:p.Asp806Gly, XP_047305244.1:p.Asp806Gly, XP_047305243.1:p.Asp806Gly, XP_047305258.1:p.Asp784Gly, XP_047305275.1:p.Asp784Gly, XP_047305255.1:p.Asp784Gly, XP_047305265.1:p.Asp784Gly, XP_047305254.1:p.Asp784Gly, XP_047305245.1:p.Asp806Gly, XP_047305259.1:p.Asp784Gly, XP_047305269.1:p.Asp784Gly, XP_047305246.1:p.Asp806Gly, XP_047305267.1:p.Asp784Gly, XP_047305268.1:p.Asp784Gly, XP_047305273.1:p.Asp784Gly, XP_047305264.1:p.Asp784Gly, XP_047305257.1:p.Asp784Gly, XP_047305271.1:p.Asp784Gly, XP_047305250.1:p.Asp784Gly, XP_047305242.1:p.Asp806Gly, XP_047305240.1:p.Asp806Gly, XP_047305261.1:p.Asp784Gly, XP_047305247.1:p.Asp784Gly, XP_047305260.1:p.Asp784Gly, XP_047305249.1:p.Asp784Gly, XP_047305270.1:p.Asp784Gly, XP_047305252.1:p.Asp784Gly

    2.

    rs1486892275 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:17161161 (GRCh38)
      3:17202653 (GRCh37)
      Canonical SPDI:
      NC_000003.12:17161160:G:A
      Gene:
      TBC1D5 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.17161161G>A, NC_000003.11:g.17202653G>A, XM_011534283.4:c.2256C>T, XM_011534283.3:c.2256C>T, XM_011534283.2:c.2256C>T, XM_011534283.1:c.2256C>T, XM_017007553.3:c.2256C>T, XM_017007553.2:c.2256C>T, XM_017007553.1:c.2256C>T, XM_017007555.3:c.2256C>T, XM_017007555.2:c.2256C>T, XM_017007555.1:c.2256C>T, XM_011534284.3:c.2256C>T, XM_011534284.2:c.2256C>T, XM_011534284.1:c.2256C>T, NM_014744.2:c.2190C>T, XM_011534281.2:c.2256C>T, XM_011534281.1:c.2256C>T, XM_017007556.2:c.2256C>T, XM_017007556.1:c.2256C>T, NM_001349079.2:c.2190C>T, NM_001349079.1:c.2190C>T, NM_001349088.2:c.1782C>T, NM_001349088.1:c.1782C>T, NM_001349082.2:c.1848C>T, NM_001349082.1:c.1848C>T, NM_001349084.2:c.1848C>T, NM_001349084.1:c.1848C>T, NM_001349085.2:c.1848C>T, NM_001349085.1:c.1848C>T, NM_001349076.2:c.2190C>T, NM_001349076.1:c.2190C>T, NM_001349075.2:c.2256C>T, NM_001349075.1:c.2256C>T, NM_001134381.2:c.2256C>T, NM_001134381.1:c.2256C>T, NM_001349074.2:c.2256C>T, NM_001349074.1:c.2256C>T, NM_001349077.2:c.2190C>T, NM_001349077.1:c.2190C>T, NM_001349081.2:c.2211C>T, NM_001349081.1:c.2211C>T, NM_001349090.2:c.1782C>T, NM_001349090.1:c.1782C>T, NM_001349073.2:c.2256C>T, NM_001349073.1:c.2256C>T, NM_001349078.2:c.2190C>T, NM_001349078.1:c.2190C>T, NM_001349083.2:c.1848C>T, NM_001349083.1:c.1848C>T, NM_001349089.2:c.1782C>T, NM_001349089.1:c.1782C>T, NM_001349080.2:c.2190C>T, NM_001349080.1:c.2190C>T, NM_001349086.2:c.1848C>T, NM_001349086.1:c.1848C>T, NM_001349087.2:c.1782C>T, NM_001349087.1:c.1782C>T, NM_001349091.2:c.1782C>T, NM_001349091.1:c.1782C>T, XM_047449300.1:c.2190C>T, XM_047449316.1:c.2190C>T, XM_047449318.1:c.2190C>T, XM_047449292.1:c.2190C>T, XM_047449306.1:c.2190C>T, XM_047449297.1:c.2190C>T, XM_047449310.1:c.2190C>T, XM_047449295.1:c.2190C>T, XM_047449285.1:c.2256C>T, XM_047449288.1:c.2256C>T, XM_047449287.1:c.2256C>T, XM_047449302.1:c.2190C>T, XM_047449319.1:c.2190C>T, XM_047449299.1:c.2190C>T, XM_047449309.1:c.2190C>T, XM_047449298.1:c.2190C>T, XM_047449289.1:c.2256C>T, XM_047449303.1:c.2190C>T, XM_047449313.1:c.2190C>T, XM_047449290.1:c.2256C>T, XM_047449311.1:c.2190C>T, XM_047449312.1:c.2190C>T, XM_047449317.1:c.2190C>T, XM_047449308.1:c.2190C>T, XM_047449301.1:c.2190C>T, XM_047449315.1:c.2190C>T, XM_047449294.1:c.2190C>T, XM_047449286.1:c.2256C>T, XM_047449284.1:c.2256C>T, NM_001134380.1:c.2190C>T, XM_047449305.1:c.2190C>T, XM_047449291.1:c.2190C>T, XM_047449304.1:c.2190C>T, XM_047449293.1:c.2190C>T, XM_047449314.1:c.2190C>T, XM_047449296.1:c.2190C>T

      3.

      rs1485956498 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        3:17372082 (GRCh38)
        3:17413574 (GRCh37)
        Canonical SPDI:
        NC_000003.12:17372081:A:G
        Gene:
        TBC1D5 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000049/2 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.17372082A>G, NC_000003.11:g.17413574A>G, XM_011534283.4:c.988T>C, XM_011534283.3:c.988T>C, XM_011534283.2:c.988T>C, XM_011534283.1:c.988T>C, XM_017007553.3:c.988T>C, XM_017007553.2:c.988T>C, XM_017007553.1:c.988T>C, XM_017007555.3:c.988T>C, XM_017007555.2:c.988T>C, XM_017007555.1:c.988T>C, XM_011534284.3:c.988T>C, XM_011534284.2:c.988T>C, XM_011534284.1:c.988T>C, NM_014744.2:c.988T>C, XM_011534281.2:c.988T>C, XM_011534281.1:c.988T>C, XM_017007556.2:c.988T>C, XM_017007556.1:c.988T>C, NM_001349079.2:c.988T>C, NM_001349079.1:c.988T>C, NM_001349088.2:c.580T>C, NM_001349088.1:c.580T>C, NM_001349082.2:c.580T>C, NM_001349082.1:c.580T>C, NM_001349084.2:c.580T>C, NM_001349084.1:c.580T>C, NM_001349085.2:c.580T>C, NM_001349085.1:c.580T>C, NM_001349076.2:c.988T>C, NM_001349076.1:c.988T>C, NM_001349075.2:c.988T>C, NM_001349075.1:c.988T>C, NM_001134381.2:c.988T>C, NM_001134381.1:c.988T>C, NM_001349074.2:c.988T>C, NM_001349074.1:c.988T>C, NM_001349077.2:c.988T>C, NM_001349077.1:c.988T>C, NM_001349081.2:c.1009T>C, NM_001349081.1:c.1009T>C, NM_001349090.2:c.580T>C, NM_001349090.1:c.580T>C, NM_001349073.2:c.988T>C, NM_001349073.1:c.988T>C, NM_001349078.2:c.988T>C, NM_001349078.1:c.988T>C, NM_001349083.2:c.580T>C, NM_001349083.1:c.580T>C, NM_001349089.2:c.580T>C, NM_001349089.1:c.580T>C, NM_001349080.2:c.988T>C, NM_001349080.1:c.988T>C, NM_001349086.2:c.580T>C, NM_001349086.1:c.580T>C, NM_001349087.2:c.580T>C, NM_001349087.1:c.580T>C, NM_001349091.2:c.580T>C, NM_001349091.1:c.580T>C, XM_047449300.1:c.988T>C, XM_047449316.1:c.988T>C, XM_047449318.1:c.988T>C, XM_047449292.1:c.988T>C, XM_047449306.1:c.988T>C, XM_047449297.1:c.988T>C, XM_047449310.1:c.988T>C, XM_047449295.1:c.988T>C, XM_047449285.1:c.988T>C, XM_047449288.1:c.988T>C, XM_047449287.1:c.988T>C, XM_047449302.1:c.988T>C, XM_047449319.1:c.988T>C, XM_047449299.1:c.988T>C, XM_047449309.1:c.988T>C, XM_047449298.1:c.988T>C, XM_047449289.1:c.988T>C, XM_047449303.1:c.988T>C, XM_047449313.1:c.988T>C, XM_047449290.1:c.988T>C, XM_047449311.1:c.988T>C, XM_047449312.1:c.988T>C, XM_047449317.1:c.988T>C, XM_047449308.1:c.988T>C, XM_047449301.1:c.988T>C, XM_047449315.1:c.988T>C, XM_047449294.1:c.988T>C, XM_047449286.1:c.988T>C, XM_047449284.1:c.988T>C, NM_001134380.1:c.988T>C, XM_047449305.1:c.988T>C, XM_047449291.1:c.988T>C, XM_047449304.1:c.988T>C, XM_047449293.1:c.988T>C, XM_047449314.1:c.988T>C, XM_047449296.1:c.988T>C, XM_047449321.1:c.988T>C, XM_047449320.1:c.988T>C, XM_047449322.1:c.988T>C, XP_011532585.1:p.Tyr330His, XP_016863042.1:p.Tyr330His, XP_016863044.1:p.Tyr330His, XP_011532586.1:p.Tyr330His, NP_055559.1:p.Tyr330His, XP_011532583.1:p.Tyr330His, XP_016863045.1:p.Tyr330His, NP_001336008.1:p.Tyr330His, NP_001336017.1:p.Tyr194His, NP_001336011.1:p.Tyr194His, NP_001336013.1:p.Tyr194His, NP_001336014.1:p.Tyr194His, NP_001336005.1:p.Tyr330His, NP_001336004.1:p.Tyr330His, NP_001127853.1:p.Tyr330His, NP_001336003.1:p.Tyr330His, NP_001336006.1:p.Tyr330His, NP_001336010.1:p.Tyr337His, NP_001336019.1:p.Tyr194His, NP_001336002.1:p.Tyr330His, NP_001336007.1:p.Tyr330His, NP_001336012.1:p.Tyr194His, NP_001336018.1:p.Tyr194His, NP_001336009.1:p.Tyr330His, NP_001336015.1:p.Tyr194His, NP_001336016.1:p.Tyr194His, NP_001336020.1:p.Tyr194His, XP_047305256.1:p.Tyr330His, XP_047305272.1:p.Tyr330His, XP_047305274.1:p.Tyr330His, XP_047305248.1:p.Tyr330His, XP_047305262.1:p.Tyr330His, XP_047305253.1:p.Tyr330His, XP_047305266.1:p.Tyr330His, XP_047305251.1:p.Tyr330His, XP_047305241.1:p.Tyr330His, XP_047305244.1:p.Tyr330His, XP_047305243.1:p.Tyr330His, XP_047305258.1:p.Tyr330His, XP_047305275.1:p.Tyr330His, XP_047305255.1:p.Tyr330His, XP_047305265.1:p.Tyr330His, XP_047305254.1:p.Tyr330His, XP_047305245.1:p.Tyr330His, XP_047305259.1:p.Tyr330His, XP_047305269.1:p.Tyr330His, XP_047305246.1:p.Tyr330His, XP_047305267.1:p.Tyr330His, XP_047305268.1:p.Tyr330His, XP_047305273.1:p.Tyr330His, XP_047305264.1:p.Tyr330His, XP_047305257.1:p.Tyr330His, XP_047305271.1:p.Tyr330His, XP_047305250.1:p.Tyr330His, XP_047305242.1:p.Tyr330His, XP_047305240.1:p.Tyr330His, XP_047305261.1:p.Tyr330His, XP_047305247.1:p.Tyr330His, XP_047305260.1:p.Tyr330His, XP_047305249.1:p.Tyr330His, XP_047305270.1:p.Tyr330His, XP_047305252.1:p.Tyr330His, XP_047305277.1:p.Tyr330His, XP_047305276.1:p.Tyr330His, XP_047305278.1:p.Tyr330His

        4.

        rs1485037346 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:17238293 (GRCh38)
          3:17279785 (GRCh37)
          Canonical SPDI:
          NC_000003.12:17238292:G:A
          Gene:
          TBC1D5 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
          HGVS:
          NC_000003.12:g.17238293G>A, NC_000003.11:g.17279785G>A, XM_011534283.4:c.1458C>T, XM_011534283.3:c.1458C>T, XM_011534283.2:c.1458C>T, XM_011534283.1:c.1458C>T, XM_017007553.3:c.1458C>T, XM_017007553.2:c.1458C>T, XM_017007553.1:c.1458C>T, XM_017007555.3:c.1458C>T, XM_017007555.2:c.1458C>T, XM_017007555.1:c.1458C>T, XM_011534284.3:c.1458C>T, XM_011534284.2:c.1458C>T, XM_011534284.1:c.1458C>T, NM_014744.2:c.1458C>T, XM_011534281.2:c.1458C>T, XM_011534281.1:c.1458C>T, XM_017007556.2:c.1458C>T, XM_017007556.1:c.1458C>T, NM_001349079.2:c.1458C>T, NM_001349079.1:c.1458C>T, NM_001349088.2:c.1050C>T, NM_001349088.1:c.1050C>T, NM_001349082.2:c.1050C>T, NM_001349082.1:c.1050C>T, NM_001349084.2:c.1050C>T, NM_001349084.1:c.1050C>T, NM_001349085.2:c.1050C>T, NM_001349085.1:c.1050C>T, NM_001349076.2:c.1458C>T, NM_001349076.1:c.1458C>T, NM_001349075.2:c.1458C>T, NM_001349075.1:c.1458C>T, NM_001134381.2:c.1458C>T, NM_001134381.1:c.1458C>T, NM_001349074.2:c.1458C>T, NM_001349074.1:c.1458C>T, NM_001349077.2:c.1458C>T, NM_001349077.1:c.1458C>T, NM_001349081.2:c.1479C>T, NM_001349081.1:c.1479C>T, NM_001349090.2:c.1050C>T, NM_001349090.1:c.1050C>T, NM_001349073.2:c.1458C>T, NM_001349073.1:c.1458C>T, NM_001349078.2:c.1458C>T, NM_001349078.1:c.1458C>T, NM_001349083.2:c.1050C>T, NM_001349083.1:c.1050C>T, NM_001349089.2:c.1050C>T, NM_001349089.1:c.1050C>T, NM_001349080.2:c.1458C>T, NM_001349080.1:c.1458C>T, NM_001349086.2:c.1050C>T, NM_001349086.1:c.1050C>T, NM_001349087.2:c.1050C>T, NM_001349087.1:c.1050C>T, NM_001349091.2:c.1050C>T, NM_001349091.1:c.1050C>T, XM_047449300.1:c.1458C>T, XM_047449316.1:c.1458C>T, XM_047449318.1:c.1458C>T, XM_047449292.1:c.1458C>T, XM_047449306.1:c.1458C>T, XM_047449297.1:c.1458C>T, XM_047449310.1:c.1458C>T, XM_047449295.1:c.1458C>T, XM_047449285.1:c.1458C>T, XM_047449288.1:c.1458C>T, XM_047449287.1:c.1458C>T, XM_047449302.1:c.1458C>T, XM_047449319.1:c.1458C>T, XM_047449299.1:c.1458C>T, XM_047449309.1:c.1458C>T, XM_047449298.1:c.1458C>T, XM_047449289.1:c.1458C>T, XM_047449303.1:c.1458C>T, XM_047449313.1:c.1458C>T, XM_047449290.1:c.1458C>T, XM_047449311.1:c.1458C>T, XM_047449312.1:c.1458C>T, XM_047449317.1:c.1458C>T, XM_047449308.1:c.1458C>T, XM_047449301.1:c.1458C>T, XM_047449315.1:c.1458C>T, XM_047449294.1:c.1458C>T, XM_047449286.1:c.1458C>T, XM_047449284.1:c.1458C>T, NM_001134380.1:c.1458C>T, XM_047449305.1:c.1458C>T, XM_047449291.1:c.1458C>T, XM_047449304.1:c.1458C>T, XM_047449293.1:c.1458C>T, XM_047449314.1:c.1458C>T, XM_047449296.1:c.1458C>T

          5.

          rs1484415074 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:17167827 (GRCh38)
            3:17209319 (GRCh37)
            Canonical SPDI:
            NC_000003.12:17167826:T:C
            Gene:
            TBC1D5 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000003.12:g.17167827T>C, NC_000003.11:g.17209319T>C, XM_011534283.4:c.1920A>G, XM_011534283.3:c.1920A>G, XM_011534283.2:c.1920A>G, XM_011534283.1:c.1920A>G, XM_017007553.3:c.1920A>G, XM_017007553.2:c.1920A>G, XM_017007553.1:c.1920A>G, XM_017007555.3:c.1920A>G, XM_017007555.2:c.1920A>G, XM_017007555.1:c.1920A>G, XM_011534284.3:c.1920A>G, XM_011534284.2:c.1920A>G, XM_011534284.1:c.1920A>G, NM_014744.2:c.1854A>G, XM_011534281.2:c.1920A>G, XM_011534281.1:c.1920A>G, XM_017007556.2:c.1920A>G, XM_017007556.1:c.1920A>G, NM_001349079.2:c.1854A>G, NM_001349079.1:c.1854A>G, NM_001349088.2:c.1446A>G, NM_001349088.1:c.1446A>G, NM_001349082.2:c.1512A>G, NM_001349082.1:c.1512A>G, NM_001349084.2:c.1512A>G, NM_001349084.1:c.1512A>G, NM_001349085.2:c.1512A>G, NM_001349085.1:c.1512A>G, NM_001349076.2:c.1854A>G, NM_001349076.1:c.1854A>G, NM_001349075.2:c.1920A>G, NM_001349075.1:c.1920A>G, NM_001134381.2:c.1920A>G, NM_001134381.1:c.1920A>G, NM_001349074.2:c.1920A>G, NM_001349074.1:c.1920A>G, NM_001349077.2:c.1854A>G, NM_001349077.1:c.1854A>G, NM_001349081.2:c.1875A>G, NM_001349081.1:c.1875A>G, NM_001349090.2:c.1446A>G, NM_001349090.1:c.1446A>G, NM_001349073.2:c.1920A>G, NM_001349073.1:c.1920A>G, NM_001349078.2:c.1854A>G, NM_001349078.1:c.1854A>G, NM_001349083.2:c.1512A>G, NM_001349083.1:c.1512A>G, NM_001349089.2:c.1446A>G, NM_001349089.1:c.1446A>G, NM_001349080.2:c.1854A>G, NM_001349080.1:c.1854A>G, NM_001349086.2:c.1512A>G, NM_001349086.1:c.1512A>G, NM_001349087.2:c.1446A>G, NM_001349087.1:c.1446A>G, NM_001349091.2:c.1446A>G, NM_001349091.1:c.1446A>G, XM_047449300.1:c.1854A>G, XM_047449316.1:c.1854A>G, XM_047449318.1:c.1854A>G, XM_047449292.1:c.1854A>G, XM_047449306.1:c.1854A>G, XM_047449297.1:c.1854A>G, XM_047449310.1:c.1854A>G, XM_047449295.1:c.1854A>G, XM_047449285.1:c.1920A>G, XM_047449288.1:c.1920A>G, XM_047449287.1:c.1920A>G, XM_047449302.1:c.1854A>G, XM_047449319.1:c.1854A>G, XM_047449299.1:c.1854A>G, XM_047449309.1:c.1854A>G, XM_047449298.1:c.1854A>G, XM_047449289.1:c.1920A>G, XM_047449303.1:c.1854A>G, XM_047449313.1:c.1854A>G, XM_047449290.1:c.1920A>G, XM_047449311.1:c.1854A>G, XM_047449312.1:c.1854A>G, XM_047449317.1:c.1854A>G, XM_047449308.1:c.1854A>G, XM_047449301.1:c.1854A>G, XM_047449315.1:c.1854A>G, XM_047449294.1:c.1854A>G, XM_047449286.1:c.1920A>G, XM_047449284.1:c.1920A>G, NM_001134380.1:c.1854A>G, XM_047449305.1:c.1854A>G, XM_047449291.1:c.1854A>G, XM_047449304.1:c.1854A>G, XM_047449293.1:c.1854A>G, XM_047449314.1:c.1854A>G, XM_047449296.1:c.1854A>G

            6.

            rs1483079802 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:17160969 (GRCh38)
              3:17202461 (GRCh37)
              Canonical SPDI:
              NC_000003.12:17160968:G:A
              Gene:
              TBC1D5 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.17160969G>A, NC_000003.11:g.17202461G>A, XM_011534283.4:c.2448C>T, XM_011534283.3:c.2448C>T, XM_011534283.2:c.2448C>T, XM_011534283.1:c.2448C>T, XM_017007553.3:c.2448C>T, XM_017007553.2:c.2448C>T, XM_017007553.1:c.2448C>T, XM_017007555.3:c.2448C>T, XM_017007555.2:c.2448C>T, XM_017007555.1:c.2448C>T, XM_011534284.3:c.2448C>T, XM_011534284.2:c.2448C>T, XM_011534284.1:c.2448C>T, NM_014744.2:c.2382C>T, XM_011534281.2:c.2448C>T, XM_011534281.1:c.2448C>T, XM_017007556.2:c.2448C>T, XM_017007556.1:c.2448C>T, NM_001349079.2:c.2382C>T, NM_001349079.1:c.2382C>T, NM_001349088.2:c.1974C>T, NM_001349088.1:c.1974C>T, NM_001349082.2:c.2040C>T, NM_001349082.1:c.2040C>T, NM_001349084.2:c.2040C>T, NM_001349084.1:c.2040C>T, NM_001349085.2:c.2040C>T, NM_001349085.1:c.2040C>T, NM_001349076.2:c.2382C>T, NM_001349076.1:c.2382C>T, NM_001349075.2:c.2448C>T, NM_001349075.1:c.2448C>T, NM_001134381.2:c.2448C>T, NM_001134381.1:c.2448C>T, NM_001349074.2:c.2448C>T, NM_001349074.1:c.2448C>T, NM_001349077.2:c.2382C>T, NM_001349077.1:c.2382C>T, NM_001349081.2:c.2403C>T, NM_001349081.1:c.2403C>T, NM_001349090.2:c.1974C>T, NM_001349090.1:c.1974C>T, NM_001349073.2:c.2448C>T, NM_001349073.1:c.2448C>T, NM_001349078.2:c.2382C>T, NM_001349078.1:c.2382C>T, NM_001349083.2:c.2040C>T, NM_001349083.1:c.2040C>T, NM_001349089.2:c.1974C>T, NM_001349089.1:c.1974C>T, NM_001349080.2:c.2382C>T, NM_001349080.1:c.2382C>T, NM_001349086.2:c.2040C>T, NM_001349086.1:c.2040C>T, NM_001349087.2:c.1974C>T, NM_001349087.1:c.1974C>T, NM_001349091.2:c.1974C>T, NM_001349091.1:c.1974C>T, XM_047449300.1:c.2382C>T, XM_047449316.1:c.2382C>T, XM_047449318.1:c.2382C>T, XM_047449292.1:c.2382C>T, XM_047449306.1:c.2382C>T, XM_047449297.1:c.2382C>T, XM_047449310.1:c.2382C>T, XM_047449295.1:c.2382C>T, XM_047449285.1:c.2448C>T, XM_047449288.1:c.2448C>T, XM_047449287.1:c.2448C>T, XM_047449302.1:c.2382C>T, XM_047449319.1:c.2382C>T, XM_047449299.1:c.2382C>T, XM_047449309.1:c.2382C>T, XM_047449298.1:c.2382C>T, XM_047449289.1:c.2448C>T, XM_047449303.1:c.2382C>T, XM_047449313.1:c.2382C>T, XM_047449290.1:c.2448C>T, XM_047449311.1:c.2382C>T, XM_047449312.1:c.2382C>T, XM_047449317.1:c.2382C>T, XM_047449308.1:c.2382C>T, XM_047449301.1:c.2382C>T, XM_047449315.1:c.2382C>T, XM_047449294.1:c.2382C>T, XM_047449286.1:c.2448C>T, XM_047449284.1:c.2448C>T, NM_001134380.1:c.2382C>T, XM_047449305.1:c.2382C>T, XM_047449291.1:c.2382C>T, XM_047449304.1:c.2382C>T, XM_047449293.1:c.2382C>T, XM_047449314.1:c.2382C>T, XM_047449296.1:c.2382C>T

              7.

              rs1481949449 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                3:17166892 (GRCh38)
                3:17208384 (GRCh37)
                Canonical SPDI:
                NC_000003.12:17166891:G:C
                Gene:
                TBC1D5 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_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_000003.12:g.17166892G>C, NC_000003.11:g.17208384G>C, XM_011534283.4:c.2035C>G, XM_011534283.3:c.2035C>G, XM_011534283.2:c.2035C>G, XM_011534283.1:c.2035C>G, XM_017007553.3:c.2035C>G, XM_017007553.2:c.2035C>G, XM_017007553.1:c.2035C>G, XM_017007555.3:c.2035C>G, XM_017007555.2:c.2035C>G, XM_017007555.1:c.2035C>G, XM_011534284.3:c.2035C>G, XM_011534284.2:c.2035C>G, XM_011534284.1:c.2035C>G, NM_014744.2:c.1969C>G, XM_011534281.2:c.2035C>G, XM_011534281.1:c.2035C>G, XM_017007556.2:c.2035C>G, XM_017007556.1:c.2035C>G, NM_001349079.2:c.1969C>G, NM_001349079.1:c.1969C>G, NM_001349088.2:c.1561C>G, NM_001349088.1:c.1561C>G, NM_001349082.2:c.1627C>G, NM_001349082.1:c.1627C>G, NM_001349084.2:c.1627C>G, NM_001349084.1:c.1627C>G, NM_001349085.2:c.1627C>G, NM_001349085.1:c.1627C>G, NM_001349076.2:c.1969C>G, NM_001349076.1:c.1969C>G, NM_001349075.2:c.2035C>G, NM_001349075.1:c.2035C>G, NM_001134381.2:c.2035C>G, NM_001134381.1:c.2035C>G, NM_001349074.2:c.2035C>G, NM_001349074.1:c.2035C>G, NM_001349077.2:c.1969C>G, NM_001349077.1:c.1969C>G, NM_001349081.2:c.1990C>G, NM_001349081.1:c.1990C>G, NM_001349090.2:c.1561C>G, NM_001349090.1:c.1561C>G, NM_001349073.2:c.2035C>G, NM_001349073.1:c.2035C>G, NM_001349078.2:c.1969C>G, NM_001349078.1:c.1969C>G, NM_001349083.2:c.1627C>G, NM_001349083.1:c.1627C>G, NM_001349089.2:c.1561C>G, NM_001349089.1:c.1561C>G, NM_001349080.2:c.1969C>G, NM_001349080.1:c.1969C>G, NM_001349086.2:c.1627C>G, NM_001349086.1:c.1627C>G, NM_001349087.2:c.1561C>G, NM_001349087.1:c.1561C>G, NM_001349091.2:c.1561C>G, NM_001349091.1:c.1561C>G, XM_047449300.1:c.1969C>G, XM_047449316.1:c.1969C>G, XM_047449318.1:c.1969C>G, XM_047449292.1:c.1969C>G, XM_047449306.1:c.1969C>G, XM_047449297.1:c.1969C>G, XM_047449310.1:c.1969C>G, XM_047449295.1:c.1969C>G, XM_047449285.1:c.2035C>G, XM_047449288.1:c.2035C>G, XM_047449287.1:c.2035C>G, XM_047449302.1:c.1969C>G, XM_047449319.1:c.1969C>G, XM_047449299.1:c.1969C>G, XM_047449309.1:c.1969C>G, XM_047449298.1:c.1969C>G, XM_047449289.1:c.2035C>G, XM_047449303.1:c.1969C>G, XM_047449313.1:c.1969C>G, XM_047449290.1:c.2035C>G, XM_047449311.1:c.1969C>G, XM_047449312.1:c.1969C>G, XM_047449317.1:c.1969C>G, XM_047449308.1:c.1969C>G, XM_047449301.1:c.1969C>G, XM_047449315.1:c.1969C>G, XM_047449294.1:c.1969C>G, XM_047449286.1:c.2035C>G, XM_047449284.1:c.2035C>G, NM_001134380.1:c.1969C>G, XM_047449305.1:c.1969C>G, XM_047449291.1:c.1969C>G, XM_047449304.1:c.1969C>G, XM_047449293.1:c.1969C>G, XM_047449314.1:c.1969C>G, XM_047449296.1:c.1969C>G, XP_011532585.1:p.Gln679Glu, XP_016863042.1:p.Gln679Glu, XP_016863044.1:p.Gln679Glu, XP_011532586.1:p.Gln679Glu, NP_055559.1:p.Gln657Glu, XP_011532583.1:p.Gln679Glu, XP_016863045.1:p.Gln679Glu, NP_001336008.1:p.Gln657Glu, NP_001336017.1:p.Gln521Glu, NP_001336011.1:p.Gln543Glu, NP_001336013.1:p.Gln543Glu, NP_001336014.1:p.Gln543Glu, NP_001336005.1:p.Gln657Glu, NP_001336004.1:p.Gln679Glu, NP_001127853.1:p.Gln679Glu, NP_001336003.1:p.Gln679Glu, NP_001336006.1:p.Gln657Glu, NP_001336010.1:p.Gln664Glu, NP_001336019.1:p.Gln521Glu, NP_001336002.1:p.Gln679Glu, NP_001336007.1:p.Gln657Glu, NP_001336012.1:p.Gln543Glu, NP_001336018.1:p.Gln521Glu, NP_001336009.1:p.Gln657Glu, NP_001336015.1:p.Gln543Glu, NP_001336016.1:p.Gln521Glu, NP_001336020.1:p.Gln521Glu, XP_047305256.1:p.Gln657Glu, XP_047305272.1:p.Gln657Glu, XP_047305274.1:p.Gln657Glu, XP_047305248.1:p.Gln657Glu, XP_047305262.1:p.Gln657Glu, XP_047305253.1:p.Gln657Glu, XP_047305266.1:p.Gln657Glu, XP_047305251.1:p.Gln657Glu, XP_047305241.1:p.Gln679Glu, XP_047305244.1:p.Gln679Glu, XP_047305243.1:p.Gln679Glu, XP_047305258.1:p.Gln657Glu, XP_047305275.1:p.Gln657Glu, XP_047305255.1:p.Gln657Glu, XP_047305265.1:p.Gln657Glu, XP_047305254.1:p.Gln657Glu, XP_047305245.1:p.Gln679Glu, XP_047305259.1:p.Gln657Glu, XP_047305269.1:p.Gln657Glu, XP_047305246.1:p.Gln679Glu, XP_047305267.1:p.Gln657Glu, XP_047305268.1:p.Gln657Glu, XP_047305273.1:p.Gln657Glu, XP_047305264.1:p.Gln657Glu, XP_047305257.1:p.Gln657Glu, XP_047305271.1:p.Gln657Glu, XP_047305250.1:p.Gln657Glu, XP_047305242.1:p.Gln679Glu, XP_047305240.1:p.Gln679Glu, XP_047305261.1:p.Gln657Glu, XP_047305247.1:p.Gln657Glu, XP_047305260.1:p.Gln657Glu, XP_047305249.1:p.Gln657Glu, XP_047305270.1:p.Gln657Glu, XP_047305252.1:p.Gln657Glu

                8.

                rs1479439641 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:17161254 (GRCh38)
                  3:17202746 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:17161253:G:A
                  Gene:
                  TBC1D5 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  HGVS:
                  NC_000003.12:g.17161254G>A, NC_000003.11:g.17202746G>A, XM_011534283.4:c.2163C>T, XM_011534283.3:c.2163C>T, XM_011534283.2:c.2163C>T, XM_011534283.1:c.2163C>T, XM_017007553.3:c.2163C>T, XM_017007553.2:c.2163C>T, XM_017007553.1:c.2163C>T, XM_017007555.3:c.2163C>T, XM_017007555.2:c.2163C>T, XM_017007555.1:c.2163C>T, XM_011534284.3:c.2163C>T, XM_011534284.2:c.2163C>T, XM_011534284.1:c.2163C>T, NM_014744.2:c.2097C>T, XM_011534281.2:c.2163C>T, XM_011534281.1:c.2163C>T, XM_017007556.2:c.2163C>T, XM_017007556.1:c.2163C>T, NM_001349079.2:c.2097C>T, NM_001349079.1:c.2097C>T, NM_001349088.2:c.1689C>T, NM_001349088.1:c.1689C>T, NM_001349082.2:c.1755C>T, NM_001349082.1:c.1755C>T, NM_001349084.2:c.1755C>T, NM_001349084.1:c.1755C>T, NM_001349085.2:c.1755C>T, NM_001349085.1:c.1755C>T, NM_001349076.2:c.2097C>T, NM_001349076.1:c.2097C>T, NM_001349075.2:c.2163C>T, NM_001349075.1:c.2163C>T, NM_001134381.2:c.2163C>T, NM_001134381.1:c.2163C>T, NM_001349074.2:c.2163C>T, NM_001349074.1:c.2163C>T, NM_001349077.2:c.2097C>T, NM_001349077.1:c.2097C>T, NM_001349081.2:c.2118C>T, NM_001349081.1:c.2118C>T, NM_001349090.2:c.1689C>T, NM_001349090.1:c.1689C>T, NM_001349073.2:c.2163C>T, NM_001349073.1:c.2163C>T, NM_001349078.2:c.2097C>T, NM_001349078.1:c.2097C>T, NM_001349083.2:c.1755C>T, NM_001349083.1:c.1755C>T, NM_001349089.2:c.1689C>T, NM_001349089.1:c.1689C>T, NM_001349080.2:c.2097C>T, NM_001349080.1:c.2097C>T, NM_001349086.2:c.1755C>T, NM_001349086.1:c.1755C>T, NM_001349087.2:c.1689C>T, NM_001349087.1:c.1689C>T, NM_001349091.2:c.1689C>T, NM_001349091.1:c.1689C>T, XM_047449300.1:c.2097C>T, XM_047449316.1:c.2097C>T, XM_047449318.1:c.2097C>T, XM_047449292.1:c.2097C>T, XM_047449306.1:c.2097C>T, XM_047449297.1:c.2097C>T, XM_047449310.1:c.2097C>T, XM_047449295.1:c.2097C>T, XM_047449285.1:c.2163C>T, XM_047449288.1:c.2163C>T, XM_047449287.1:c.2163C>T, XM_047449302.1:c.2097C>T, XM_047449319.1:c.2097C>T, XM_047449299.1:c.2097C>T, XM_047449309.1:c.2097C>T, XM_047449298.1:c.2097C>T, XM_047449289.1:c.2163C>T, XM_047449303.1:c.2097C>T, XM_047449313.1:c.2097C>T, XM_047449290.1:c.2163C>T, XM_047449311.1:c.2097C>T, XM_047449312.1:c.2097C>T, XM_047449317.1:c.2097C>T, XM_047449308.1:c.2097C>T, XM_047449301.1:c.2097C>T, XM_047449315.1:c.2097C>T, XM_047449294.1:c.2097C>T, XM_047449286.1:c.2163C>T, XM_047449284.1:c.2163C>T, NM_001134380.1:c.2097C>T, XM_047449305.1:c.2097C>T, XM_047449291.1:c.2097C>T, XM_047449304.1:c.2097C>T, XM_047449293.1:c.2097C>T, XM_047449314.1:c.2097C>T, XM_047449296.1:c.2097C>T

                  9.

                  rs1479409541 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    3:17214291 (GRCh38)
                    3:17255783 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:17214290:A:C
                    Gene:
                    TBC1D5 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    HGVS:
                    NC_000003.12:g.17214291A>C, NC_000003.11:g.17255783A>C, XM_011534283.4:c.1734T>G, XM_011534283.3:c.1734T>G, XM_011534283.2:c.1734T>G, XM_011534283.1:c.1734T>G, XM_017007553.3:c.1734T>G, XM_017007553.2:c.1734T>G, XM_017007553.1:c.1734T>G, XM_017007555.3:c.1734T>G, XM_017007555.2:c.1734T>G, XM_017007555.1:c.1734T>G, XM_011534284.3:c.1734T>G, XM_011534284.2:c.1734T>G, XM_011534284.1:c.1734T>G, NM_014744.2:c.1668T>G, XM_011534281.2:c.1734T>G, XM_011534281.1:c.1734T>G, XM_017007556.2:c.1734T>G, XM_017007556.1:c.1734T>G, NM_001349079.2:c.1668T>G, NM_001349079.1:c.1668T>G, NM_001349088.2:c.1260T>G, NM_001349088.1:c.1260T>G, NM_001349082.2:c.1326T>G, NM_001349082.1:c.1326T>G, NM_001349084.2:c.1326T>G, NM_001349084.1:c.1326T>G, NM_001349085.2:c.1326T>G, NM_001349085.1:c.1326T>G, NM_001349076.2:c.1668T>G, NM_001349076.1:c.1668T>G, NM_001349075.2:c.1734T>G, NM_001349075.1:c.1734T>G, NM_001134381.2:c.1734T>G, NM_001134381.1:c.1734T>G, NM_001349074.2:c.1734T>G, NM_001349074.1:c.1734T>G, NM_001349077.2:c.1668T>G, NM_001349077.1:c.1668T>G, NM_001349081.2:c.1689T>G, NM_001349081.1:c.1689T>G, NM_001349090.2:c.1260T>G, NM_001349090.1:c.1260T>G, NM_001349073.2:c.1734T>G, NM_001349073.1:c.1734T>G, NM_001349078.2:c.1668T>G, NM_001349078.1:c.1668T>G, NM_001349083.2:c.1326T>G, NM_001349083.1:c.1326T>G, NM_001349089.2:c.1260T>G, NM_001349089.1:c.1260T>G, NM_001349080.2:c.1668T>G, NM_001349080.1:c.1668T>G, NM_001349086.2:c.1326T>G, NM_001349086.1:c.1326T>G, NM_001349087.2:c.1260T>G, NM_001349087.1:c.1260T>G, NM_001349091.2:c.1260T>G, NM_001349091.1:c.1260T>G, XM_047449300.1:c.1668T>G, XM_047449316.1:c.1668T>G, XM_047449318.1:c.1668T>G, XM_047449292.1:c.1668T>G, XM_047449306.1:c.1668T>G, XM_047449297.1:c.1668T>G, XM_047449310.1:c.1668T>G, XM_047449295.1:c.1668T>G, XM_047449285.1:c.1734T>G, XM_047449288.1:c.1734T>G, XM_047449287.1:c.1734T>G, XM_047449302.1:c.1668T>G, XM_047449319.1:c.1668T>G, XM_047449299.1:c.1668T>G, XM_047449309.1:c.1668T>G, XM_047449298.1:c.1668T>G, XM_047449289.1:c.1734T>G, XM_047449303.1:c.1668T>G, XM_047449313.1:c.1668T>G, XM_047449290.1:c.1734T>G, XM_047449311.1:c.1668T>G, XM_047449312.1:c.1668T>G, XM_047449317.1:c.1668T>G, XM_047449308.1:c.1668T>G, XM_047449301.1:c.1668T>G, XM_047449315.1:c.1668T>G, XM_047449294.1:c.1668T>G, XM_047449286.1:c.1734T>G, XM_047449284.1:c.1734T>G, NM_001134380.1:c.1668T>G, XM_047449305.1:c.1668T>G, XM_047449291.1:c.1668T>G, XM_047449304.1:c.1668T>G, XM_047449293.1:c.1668T>G, XM_047449314.1:c.1668T>G, XM_047449296.1:c.1668T>G

                    10.

                    rs1477820709 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:17308038 (GRCh38)
                      3:17349530 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:17308037:T:C
                      Gene:
                      TBC1D5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000111/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.17308038T>C, NC_000003.11:g.17349530T>C, XM_011534283.4:c.1092A>G, XM_011534283.3:c.1092A>G, XM_011534283.2:c.1092A>G, XM_011534283.1:c.1092A>G, XM_017007553.3:c.1092A>G, XM_017007553.2:c.1092A>G, XM_017007553.1:c.1092A>G, XM_017007555.3:c.1092A>G, XM_017007555.2:c.1092A>G, XM_017007555.1:c.1092A>G, XM_011534284.3:c.1092A>G, XM_011534284.2:c.1092A>G, XM_011534284.1:c.1092A>G, NM_014744.2:c.1092A>G, XM_011534281.2:c.1092A>G, XM_011534281.1:c.1092A>G, XM_017007556.2:c.1092A>G, XM_017007556.1:c.1092A>G, NM_001349079.2:c.1092A>G, NM_001349079.1:c.1092A>G, NM_001349088.2:c.684A>G, NM_001349088.1:c.684A>G, NM_001349082.2:c.684A>G, NM_001349082.1:c.684A>G, NM_001349084.2:c.684A>G, NM_001349084.1:c.684A>G, NM_001349085.2:c.684A>G, NM_001349085.1:c.684A>G, NM_001349076.2:c.1092A>G, NM_001349076.1:c.1092A>G, NM_001349075.2:c.1092A>G, NM_001349075.1:c.1092A>G, NM_001134381.2:c.1092A>G, NM_001134381.1:c.1092A>G, NM_001349074.2:c.1092A>G, NM_001349074.1:c.1092A>G, NM_001349077.2:c.1092A>G, NM_001349077.1:c.1092A>G, NM_001349081.2:c.1113A>G, NM_001349081.1:c.1113A>G, NM_001349090.2:c.684A>G, NM_001349090.1:c.684A>G, NM_001349073.2:c.1092A>G, NM_001349073.1:c.1092A>G, NM_001349078.2:c.1092A>G, NM_001349078.1:c.1092A>G, NM_001349083.2:c.684A>G, NM_001349083.1:c.684A>G, NM_001349089.2:c.684A>G, NM_001349089.1:c.684A>G, NM_001349080.2:c.1092A>G, NM_001349080.1:c.1092A>G, NM_001349086.2:c.684A>G, NM_001349086.1:c.684A>G, NM_001349087.2:c.684A>G, NM_001349087.1:c.684A>G, NM_001349091.2:c.684A>G, NM_001349091.1:c.684A>G, XM_047449300.1:c.1092A>G, XM_047449316.1:c.1092A>G, XM_047449318.1:c.1092A>G, XM_047449292.1:c.1092A>G, XM_047449306.1:c.1092A>G, XM_047449297.1:c.1092A>G, XM_047449310.1:c.1092A>G, XM_047449295.1:c.1092A>G, XM_047449285.1:c.1092A>G, XM_047449288.1:c.1092A>G, XM_047449287.1:c.1092A>G, XM_047449302.1:c.1092A>G, XM_047449319.1:c.1092A>G, XM_047449299.1:c.1092A>G, XM_047449309.1:c.1092A>G, XM_047449298.1:c.1092A>G, XM_047449289.1:c.1092A>G, XM_047449303.1:c.1092A>G, XM_047449313.1:c.1092A>G, XM_047449290.1:c.1092A>G, XM_047449311.1:c.1092A>G, XM_047449312.1:c.1092A>G, XM_047449317.1:c.1092A>G, XM_047449308.1:c.1092A>G, XM_047449301.1:c.1092A>G, XM_047449315.1:c.1092A>G, XM_047449294.1:c.1092A>G, XM_047449286.1:c.1092A>G, XM_047449284.1:c.1092A>G, NM_001134380.1:c.1092A>G, XM_047449305.1:c.1092A>G, XM_047449291.1:c.1092A>G, XM_047449304.1:c.1092A>G, XM_047449293.1:c.1092A>G, XM_047449314.1:c.1092A>G, XM_047449296.1:c.1092A>G, XM_047449321.1:c.1092A>G, XM_047449320.1:c.1092A>G, XM_047449322.1:c.1092A>G

                      11.

                      rs1477459624 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:17308023 (GRCh38)
                        3:17349515 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:17308022:G:A
                        Gene:
                        TBC1D5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000015/4 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000003.12:g.17308023G>A, NC_000003.11:g.17349515G>A, XM_011534283.4:c.1107C>T, XM_011534283.3:c.1107C>T, XM_011534283.2:c.1107C>T, XM_011534283.1:c.1107C>T, XM_017007553.3:c.1107C>T, XM_017007553.2:c.1107C>T, XM_017007553.1:c.1107C>T, XM_017007555.3:c.1107C>T, XM_017007555.2:c.1107C>T, XM_017007555.1:c.1107C>T, XM_011534284.3:c.1107C>T, XM_011534284.2:c.1107C>T, XM_011534284.1:c.1107C>T, NM_014744.2:c.1107C>T, XM_011534281.2:c.1107C>T, XM_011534281.1:c.1107C>T, XM_017007556.2:c.1107C>T, XM_017007556.1:c.1107C>T, NM_001349079.2:c.1107C>T, NM_001349079.1:c.1107C>T, NM_001349088.2:c.699C>T, NM_001349088.1:c.699C>T, NM_001349082.2:c.699C>T, NM_001349082.1:c.699C>T, NM_001349084.2:c.699C>T, NM_001349084.1:c.699C>T, NM_001349085.2:c.699C>T, NM_001349085.1:c.699C>T, NM_001349076.2:c.1107C>T, NM_001349076.1:c.1107C>T, NM_001349075.2:c.1107C>T, NM_001349075.1:c.1107C>T, NM_001134381.2:c.1107C>T, NM_001134381.1:c.1107C>T, NM_001349074.2:c.1107C>T, NM_001349074.1:c.1107C>T, NM_001349077.2:c.1107C>T, NM_001349077.1:c.1107C>T, NM_001349081.2:c.1128C>T, NM_001349081.1:c.1128C>T, NM_001349090.2:c.699C>T, NM_001349090.1:c.699C>T, NM_001349073.2:c.1107C>T, NM_001349073.1:c.1107C>T, NM_001349078.2:c.1107C>T, NM_001349078.1:c.1107C>T, NM_001349083.2:c.699C>T, NM_001349083.1:c.699C>T, NM_001349089.2:c.699C>T, NM_001349089.1:c.699C>T, NM_001349080.2:c.1107C>T, NM_001349080.1:c.1107C>T, NM_001349086.2:c.699C>T, NM_001349086.1:c.699C>T, NM_001349087.2:c.699C>T, NM_001349087.1:c.699C>T, NM_001349091.2:c.699C>T, NM_001349091.1:c.699C>T, XM_047449300.1:c.1107C>T, XM_047449316.1:c.1107C>T, XM_047449318.1:c.1107C>T, XM_047449292.1:c.1107C>T, XM_047449306.1:c.1107C>T, XM_047449297.1:c.1107C>T, XM_047449310.1:c.1107C>T, XM_047449295.1:c.1107C>T, XM_047449285.1:c.1107C>T, XM_047449288.1:c.1107C>T, XM_047449287.1:c.1107C>T, XM_047449302.1:c.1107C>T, XM_047449319.1:c.1107C>T, XM_047449299.1:c.1107C>T, XM_047449309.1:c.1107C>T, XM_047449298.1:c.1107C>T, XM_047449289.1:c.1107C>T, XM_047449303.1:c.1107C>T, XM_047449313.1:c.1107C>T, XM_047449290.1:c.1107C>T, XM_047449311.1:c.1107C>T, XM_047449312.1:c.1107C>T, XM_047449317.1:c.1107C>T, XM_047449308.1:c.1107C>T, XM_047449301.1:c.1107C>T, XM_047449315.1:c.1107C>T, XM_047449294.1:c.1107C>T, XM_047449286.1:c.1107C>T, XM_047449284.1:c.1107C>T, NM_001134380.1:c.1107C>T, XM_047449305.1:c.1107C>T, XM_047449291.1:c.1107C>T, XM_047449304.1:c.1107C>T, XM_047449293.1:c.1107C>T, XM_047449314.1:c.1107C>T, XM_047449296.1:c.1107C>T, XM_047449321.1:c.1107C>T, XM_047449320.1:c.1107C>T, XM_047449322.1:c.1107C>T

                        12.

                        rs1470618733 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          3:17374650 (GRCh38)
                          3:17416142 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:17374649:T:C,NC_000003.12:17374649:T:G
                          Gene:
                          TBC1D5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000051/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.17374650T>C, NC_000003.12:g.17374650T>G, NC_000003.11:g.17416142T>C, NC_000003.11:g.17416142T>G, XM_011534283.4:c.731A>G, XM_011534283.4:c.731A>C, XM_011534283.3:c.731A>G, XM_011534283.3:c.731A>C, XM_011534283.2:c.731A>G, XM_011534283.2:c.731A>C, XM_011534283.1:c.731A>G, XM_011534283.1:c.731A>C, XM_017007553.3:c.731A>G, XM_017007553.3:c.731A>C, XM_017007553.2:c.731A>G, XM_017007553.2:c.731A>C, XM_017007553.1:c.731A>G, XM_017007553.1:c.731A>C, XM_017007555.3:c.731A>G, XM_017007555.3:c.731A>C, XM_017007555.2:c.731A>G, XM_017007555.2:c.731A>C, XM_017007555.1:c.731A>G, XM_017007555.1:c.731A>C, XM_011534284.3:c.731A>G, XM_011534284.3:c.731A>C, XM_011534284.2:c.731A>G, XM_011534284.2:c.731A>C, XM_011534284.1:c.731A>G, XM_011534284.1:c.731A>C, NM_014744.2:c.731A>G, NM_014744.2:c.731A>C, XM_011534281.2:c.731A>G, XM_011534281.2:c.731A>C, XM_011534281.1:c.731A>G, XM_011534281.1:c.731A>C, XM_017007556.2:c.731A>G, XM_017007556.2:c.731A>C, XM_017007556.1:c.731A>G, XM_017007556.1:c.731A>C, NM_001349079.2:c.731A>G, NM_001349079.2:c.731A>C, NM_001349079.1:c.731A>G, NM_001349079.1:c.731A>C, NM_001349088.2:c.323A>G, NM_001349088.2:c.323A>C, NM_001349088.1:c.323A>G, NM_001349088.1:c.323A>C, NM_001349082.2:c.323A>G, NM_001349082.2:c.323A>C, NM_001349082.1:c.323A>G, NM_001349082.1:c.323A>C, NM_001349084.2:c.323A>G, NM_001349084.2:c.323A>C, NM_001349084.1:c.323A>G, NM_001349084.1:c.323A>C, NM_001349085.2:c.323A>G, NM_001349085.2:c.323A>C, NM_001349085.1:c.323A>G, NM_001349085.1:c.323A>C, NM_001349076.2:c.731A>G, NM_001349076.2:c.731A>C, NM_001349076.1:c.731A>G, NM_001349076.1:c.731A>C, NM_001349075.2:c.731A>G, NM_001349075.2:c.731A>C, NM_001349075.1:c.731A>G, NM_001349075.1:c.731A>C, NM_001134381.2:c.731A>G, NM_001134381.2:c.731A>C, NM_001134381.1:c.731A>G, NM_001134381.1:c.731A>C, NM_001349074.2:c.731A>G, NM_001349074.2:c.731A>C, NM_001349074.1:c.731A>G, NM_001349074.1:c.731A>C, NM_001349077.2:c.731A>G, NM_001349077.2:c.731A>C, NM_001349077.1:c.731A>G, NM_001349077.1:c.731A>C, NM_001349081.2:c.752A>G, NM_001349081.2:c.752A>C, NM_001349081.1:c.752A>G, NM_001349081.1:c.752A>C, NM_001349090.2:c.323A>G, NM_001349090.2:c.323A>C, NM_001349090.1:c.323A>G, NM_001349090.1:c.323A>C, NM_001349073.2:c.731A>G, NM_001349073.2:c.731A>C, NM_001349073.1:c.731A>G, NM_001349073.1:c.731A>C, NM_001349078.2:c.731A>G, NM_001349078.2:c.731A>C, NM_001349078.1:c.731A>G, NM_001349078.1:c.731A>C, NM_001349083.2:c.323A>G, NM_001349083.2:c.323A>C, NM_001349083.1:c.323A>G, NM_001349083.1:c.323A>C, NM_001349089.2:c.323A>G, NM_001349089.2:c.323A>C, NM_001349089.1:c.323A>G, NM_001349089.1:c.323A>C, NM_001349080.2:c.731A>G, NM_001349080.2:c.731A>C, NM_001349080.1:c.731A>G, NM_001349080.1:c.731A>C, NM_001349086.2:c.323A>G, NM_001349086.2:c.323A>C, NM_001349086.1:c.323A>G, NM_001349086.1:c.323A>C, NM_001349087.2:c.323A>G, NM_001349087.2:c.323A>C, NM_001349087.1:c.323A>G, NM_001349087.1:c.323A>C, NM_001349091.2:c.323A>G, NM_001349091.2:c.323A>C, NM_001349091.1:c.323A>G, NM_001349091.1:c.323A>C, XM_047449300.1:c.731A>G, XM_047449300.1:c.731A>C, XM_047449316.1:c.731A>G, XM_047449316.1:c.731A>C, XM_047449318.1:c.731A>G, XM_047449318.1:c.731A>C, XM_047449292.1:c.731A>G, XM_047449292.1:c.731A>C, XM_047449306.1:c.731A>G, XM_047449306.1:c.731A>C, XM_047449297.1:c.731A>G, XM_047449297.1:c.731A>C, XM_047449310.1:c.731A>G, XM_047449310.1:c.731A>C, XM_047449295.1:c.731A>G, XM_047449295.1:c.731A>C, XM_047449285.1:c.731A>G, XM_047449285.1:c.731A>C, XM_047449288.1:c.731A>G, XM_047449288.1:c.731A>C, XM_047449287.1:c.731A>G, XM_047449287.1:c.731A>C, XM_047449302.1:c.731A>G, XM_047449302.1:c.731A>C, XM_047449319.1:c.731A>G, XM_047449319.1:c.731A>C, XM_047449299.1:c.731A>G, XM_047449299.1:c.731A>C, XM_047449309.1:c.731A>G, XM_047449309.1:c.731A>C, XM_047449298.1:c.731A>G, XM_047449298.1:c.731A>C, XM_047449289.1:c.731A>G, XM_047449289.1:c.731A>C, XM_047449303.1:c.731A>G, XM_047449303.1:c.731A>C, XM_047449313.1:c.731A>G, XM_047449313.1:c.731A>C, XM_047449290.1:c.731A>G, XM_047449290.1:c.731A>C, XM_047449311.1:c.731A>G, XM_047449311.1:c.731A>C, XM_047449312.1:c.731A>G, XM_047449312.1:c.731A>C, XM_047449317.1:c.731A>G, XM_047449317.1:c.731A>C, XM_047449308.1:c.731A>G, XM_047449308.1:c.731A>C, XM_047449301.1:c.731A>G, XM_047449301.1:c.731A>C, XM_047449315.1:c.731A>G, XM_047449315.1:c.731A>C, XM_047449294.1:c.731A>G, XM_047449294.1:c.731A>C, XM_047449286.1:c.731A>G, XM_047449286.1:c.731A>C, XM_047449284.1:c.731A>G, XM_047449284.1:c.731A>C, NM_001134380.1:c.731A>G, NM_001134380.1:c.731A>C, XM_047449305.1:c.731A>G, XM_047449305.1:c.731A>C, XM_047449291.1:c.731A>G, XM_047449291.1:c.731A>C, XM_047449304.1:c.731A>G, XM_047449304.1:c.731A>C, XM_047449293.1:c.731A>G, XM_047449293.1:c.731A>C, XM_047449314.1:c.731A>G, XM_047449314.1:c.731A>C, XM_047449296.1:c.731A>G, XM_047449296.1:c.731A>C, XM_047449321.1:c.731A>G, XM_047449321.1:c.731A>C, XM_047449320.1:c.731A>G, XM_047449320.1:c.731A>C, XM_047449322.1:c.731A>G, XM_047449322.1:c.731A>C, XP_011532585.1:p.Glu244Gly, XP_011532585.1:p.Glu244Ala, XP_016863042.1:p.Glu244Gly, XP_016863042.1:p.Glu244Ala, XP_016863044.1:p.Glu244Gly, XP_016863044.1:p.Glu244Ala, XP_011532586.1:p.Glu244Gly, XP_011532586.1:p.Glu244Ala, NP_055559.1:p.Glu244Gly, NP_055559.1:p.Glu244Ala, XP_011532583.1:p.Glu244Gly, XP_011532583.1:p.Glu244Ala, XP_016863045.1:p.Glu244Gly, XP_016863045.1:p.Glu244Ala, NP_001336008.1:p.Glu244Gly, NP_001336008.1:p.Glu244Ala, NP_001336017.1:p.Glu108Gly, NP_001336017.1:p.Glu108Ala, NP_001336011.1:p.Glu108Gly, NP_001336011.1:p.Glu108Ala, NP_001336013.1:p.Glu108Gly, NP_001336013.1:p.Glu108Ala, NP_001336014.1:p.Glu108Gly, NP_001336014.1:p.Glu108Ala, NP_001336005.1:p.Glu244Gly, NP_001336005.1:p.Glu244Ala, NP_001336004.1:p.Glu244Gly, NP_001336004.1:p.Glu244Ala, NP_001127853.1:p.Glu244Gly, NP_001127853.1:p.Glu244Ala, NP_001336003.1:p.Glu244Gly, NP_001336003.1:p.Glu244Ala, NP_001336006.1:p.Glu244Gly, NP_001336006.1:p.Glu244Ala, NP_001336010.1:p.Glu251Gly, NP_001336010.1:p.Glu251Ala, NP_001336019.1:p.Glu108Gly, NP_001336019.1:p.Glu108Ala, NP_001336002.1:p.Glu244Gly, NP_001336002.1:p.Glu244Ala, NP_001336007.1:p.Glu244Gly, NP_001336007.1:p.Glu244Ala, NP_001336012.1:p.Glu108Gly, NP_001336012.1:p.Glu108Ala, NP_001336018.1:p.Glu108Gly, NP_001336018.1:p.Glu108Ala, NP_001336009.1:p.Glu244Gly, NP_001336009.1:p.Glu244Ala, NP_001336015.1:p.Glu108Gly, NP_001336015.1:p.Glu108Ala, NP_001336016.1:p.Glu108Gly, NP_001336016.1:p.Glu108Ala, NP_001336020.1:p.Glu108Gly, NP_001336020.1:p.Glu108Ala, XP_047305256.1:p.Glu244Gly, XP_047305256.1:p.Glu244Ala, XP_047305272.1:p.Glu244Gly, XP_047305272.1:p.Glu244Ala, XP_047305274.1:p.Glu244Gly, XP_047305274.1:p.Glu244Ala, XP_047305248.1:p.Glu244Gly, XP_047305248.1:p.Glu244Ala, XP_047305262.1:p.Glu244Gly, XP_047305262.1:p.Glu244Ala, XP_047305253.1:p.Glu244Gly, XP_047305253.1:p.Glu244Ala, XP_047305266.1:p.Glu244Gly, XP_047305266.1:p.Glu244Ala, XP_047305251.1:p.Glu244Gly, XP_047305251.1:p.Glu244Ala, XP_047305241.1:p.Glu244Gly, XP_047305241.1:p.Glu244Ala, XP_047305244.1:p.Glu244Gly, XP_047305244.1:p.Glu244Ala, XP_047305243.1:p.Glu244Gly, XP_047305243.1:p.Glu244Ala, XP_047305258.1:p.Glu244Gly, XP_047305258.1:p.Glu244Ala, XP_047305275.1:p.Glu244Gly, XP_047305275.1:p.Glu244Ala, XP_047305255.1:p.Glu244Gly, XP_047305255.1:p.Glu244Ala, XP_047305265.1:p.Glu244Gly, XP_047305265.1:p.Glu244Ala, XP_047305254.1:p.Glu244Gly, XP_047305254.1:p.Glu244Ala, XP_047305245.1:p.Glu244Gly, XP_047305245.1:p.Glu244Ala, XP_047305259.1:p.Glu244Gly, XP_047305259.1:p.Glu244Ala, XP_047305269.1:p.Glu244Gly, XP_047305269.1:p.Glu244Ala, XP_047305246.1:p.Glu244Gly, XP_047305246.1:p.Glu244Ala, XP_047305267.1:p.Glu244Gly, XP_047305267.1:p.Glu244Ala, XP_047305268.1:p.Glu244Gly, XP_047305268.1:p.Glu244Ala, XP_047305273.1:p.Glu244Gly, XP_047305273.1:p.Glu244Ala, XP_047305264.1:p.Glu244Gly, XP_047305264.1:p.Glu244Ala, XP_047305257.1:p.Glu244Gly, XP_047305257.1:p.Glu244Ala, XP_047305271.1:p.Glu244Gly, XP_047305271.1:p.Glu244Ala, XP_047305250.1:p.Glu244Gly, XP_047305250.1:p.Glu244Ala, XP_047305242.1:p.Glu244Gly, XP_047305242.1:p.Glu244Ala, XP_047305240.1:p.Glu244Gly, XP_047305240.1:p.Glu244Ala, XP_047305261.1:p.Glu244Gly, XP_047305261.1:p.Glu244Ala, XP_047305247.1:p.Glu244Gly, XP_047305247.1:p.Glu244Ala, XP_047305260.1:p.Glu244Gly, XP_047305260.1:p.Glu244Ala, XP_047305249.1:p.Glu244Gly, XP_047305249.1:p.Glu244Ala, XP_047305270.1:p.Glu244Gly, XP_047305270.1:p.Glu244Ala, XP_047305252.1:p.Glu244Gly, XP_047305252.1:p.Glu244Ala, XP_047305277.1:p.Glu244Gly, XP_047305277.1:p.Glu244Ala, XP_047305276.1:p.Glu244Gly, XP_047305276.1:p.Glu244Ala, XP_047305278.1:p.Glu244Gly, XP_047305278.1:p.Glu244Ala

                          13.

                          rs1470244899 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:17308097 (GRCh38)
                            3:17349589 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:17308096:G:A
                            Gene:
                            TBC1D5 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000003.12:g.17308097G>A, NC_000003.11:g.17349589G>A, XM_011534283.4:c.1033C>T, XM_011534283.3:c.1033C>T, XM_011534283.2:c.1033C>T, XM_011534283.1:c.1033C>T, XM_017007553.3:c.1033C>T, XM_017007553.2:c.1033C>T, XM_017007553.1:c.1033C>T, XM_017007555.3:c.1033C>T, XM_017007555.2:c.1033C>T, XM_017007555.1:c.1033C>T, XM_011534284.3:c.1033C>T, XM_011534284.2:c.1033C>T, XM_011534284.1:c.1033C>T, NM_014744.2:c.1033C>T, XM_011534281.2:c.1033C>T, XM_011534281.1:c.1033C>T, XM_017007556.2:c.1033C>T, XM_017007556.1:c.1033C>T, NM_001349079.2:c.1033C>T, NM_001349079.1:c.1033C>T, NM_001349088.2:c.625C>T, NM_001349088.1:c.625C>T, NM_001349082.2:c.625C>T, NM_001349082.1:c.625C>T, NM_001349084.2:c.625C>T, NM_001349084.1:c.625C>T, NM_001349085.2:c.625C>T, NM_001349085.1:c.625C>T, NM_001349076.2:c.1033C>T, NM_001349076.1:c.1033C>T, NM_001349075.2:c.1033C>T, NM_001349075.1:c.1033C>T, NM_001134381.2:c.1033C>T, NM_001134381.1:c.1033C>T, NM_001349074.2:c.1033C>T, NM_001349074.1:c.1033C>T, NM_001349077.2:c.1033C>T, NM_001349077.1:c.1033C>T, NM_001349081.2:c.1054C>T, NM_001349081.1:c.1054C>T, NM_001349090.2:c.625C>T, NM_001349090.1:c.625C>T, NM_001349073.2:c.1033C>T, NM_001349073.1:c.1033C>T, NM_001349078.2:c.1033C>T, NM_001349078.1:c.1033C>T, NM_001349083.2:c.625C>T, NM_001349083.1:c.625C>T, NM_001349089.2:c.625C>T, NM_001349089.1:c.625C>T, NM_001349080.2:c.1033C>T, NM_001349080.1:c.1033C>T, NM_001349086.2:c.625C>T, NM_001349086.1:c.625C>T, NM_001349087.2:c.625C>T, NM_001349087.1:c.625C>T, NM_001349091.2:c.625C>T, NM_001349091.1:c.625C>T, XM_047449300.1:c.1033C>T, XM_047449316.1:c.1033C>T, XM_047449318.1:c.1033C>T, XM_047449292.1:c.1033C>T, XM_047449306.1:c.1033C>T, XM_047449297.1:c.1033C>T, XM_047449310.1:c.1033C>T, XM_047449295.1:c.1033C>T, XM_047449285.1:c.1033C>T, XM_047449288.1:c.1033C>T, XM_047449287.1:c.1033C>T, XM_047449302.1:c.1033C>T, XM_047449319.1:c.1033C>T, XM_047449299.1:c.1033C>T, XM_047449309.1:c.1033C>T, XM_047449298.1:c.1033C>T, XM_047449289.1:c.1033C>T, XM_047449303.1:c.1033C>T, XM_047449313.1:c.1033C>T, XM_047449290.1:c.1033C>T, XM_047449311.1:c.1033C>T, XM_047449312.1:c.1033C>T, XM_047449317.1:c.1033C>T, XM_047449308.1:c.1033C>T, XM_047449301.1:c.1033C>T, XM_047449315.1:c.1033C>T, XM_047449294.1:c.1033C>T, XM_047449286.1:c.1033C>T, XM_047449284.1:c.1033C>T, NM_001134380.1:c.1033C>T, XM_047449305.1:c.1033C>T, XM_047449291.1:c.1033C>T, XM_047449304.1:c.1033C>T, XM_047449293.1:c.1033C>T, XM_047449314.1:c.1033C>T, XM_047449296.1:c.1033C>T, XM_047449321.1:c.1033C>T, XM_047449320.1:c.1033C>T, XM_047449322.1:c.1033C>T

                            14.

                            rs1469332468 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              3:17403226 (GRCh38)
                              3:17444718 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:17403225:T:G
                              Gene:
                              TBC1D5 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.17403226T>G, NC_000003.11:g.17444718T>G, XM_011534283.4:c.464A>C, XM_011534283.3:c.464A>C, XM_011534283.2:c.464A>C, XM_011534283.1:c.464A>C, XM_017007553.3:c.464A>C, XM_017007553.2:c.464A>C, XM_017007553.1:c.464A>C, XM_017007555.3:c.464A>C, XM_017007555.2:c.464A>C, XM_017007555.1:c.464A>C, XM_011534284.3:c.464A>C, XM_011534284.2:c.464A>C, XM_011534284.1:c.464A>C, NM_014744.2:c.464A>C, XM_011534281.2:c.464A>C, XM_011534281.1:c.464A>C, XM_017007556.2:c.464A>C, XM_017007556.1:c.464A>C, NM_001349079.2:c.464A>C, NM_001349079.1:c.464A>C, NM_001349088.2:c.56A>C, NM_001349088.1:c.56A>C, NM_001349082.2:c.56A>C, NM_001349082.1:c.56A>C, NM_001349084.2:c.56A>C, NM_001349084.1:c.56A>C, NM_001349085.2:c.56A>C, NM_001349085.1:c.56A>C, NM_001349076.2:c.464A>C, NM_001349076.1:c.464A>C, NM_001349075.2:c.464A>C, NM_001349075.1:c.464A>C, NM_001134381.2:c.464A>C, NM_001134381.1:c.464A>C, NM_001349074.2:c.464A>C, NM_001349074.1:c.464A>C, NM_001349077.2:c.464A>C, NM_001349077.1:c.464A>C, NM_001349081.2:c.485A>C, NM_001349081.1:c.485A>C, NM_001349090.2:c.56A>C, NM_001349090.1:c.56A>C, NM_001349073.2:c.464A>C, NM_001349073.1:c.464A>C, NM_001349078.2:c.464A>C, NM_001349078.1:c.464A>C, NM_001349083.2:c.56A>C, NM_001349083.1:c.56A>C, NM_001349089.2:c.56A>C, NM_001349089.1:c.56A>C, NM_001349080.2:c.464A>C, NM_001349080.1:c.464A>C, NM_001349086.2:c.56A>C, NM_001349086.1:c.56A>C, NM_001349087.2:c.56A>C, NM_001349087.1:c.56A>C, NM_001349091.2:c.56A>C, NM_001349091.1:c.56A>C, XM_047449300.1:c.464A>C, XM_047449316.1:c.464A>C, XM_047449318.1:c.464A>C, XM_047449292.1:c.464A>C, XM_047449306.1:c.464A>C, XM_047449297.1:c.464A>C, XM_047449310.1:c.464A>C, XM_047449295.1:c.464A>C, XM_047449285.1:c.464A>C, XM_047449288.1:c.464A>C, XM_047449287.1:c.464A>C, XM_047449302.1:c.464A>C, XM_047449319.1:c.464A>C, XM_047449299.1:c.464A>C, XM_047449309.1:c.464A>C, XM_047449298.1:c.464A>C, XM_047449289.1:c.464A>C, XM_047449303.1:c.464A>C, XM_047449313.1:c.464A>C, XM_047449290.1:c.464A>C, XM_047449311.1:c.464A>C, XM_047449312.1:c.464A>C, XM_047449317.1:c.464A>C, XM_047449308.1:c.464A>C, XM_047449301.1:c.464A>C, XM_047449315.1:c.464A>C, XM_047449294.1:c.464A>C, XM_047449286.1:c.464A>C, XM_047449284.1:c.464A>C, NM_001134380.1:c.464A>C, XM_047449305.1:c.464A>C, XM_047449291.1:c.464A>C, XM_047449304.1:c.464A>C, XM_047449293.1:c.464A>C, XM_047449314.1:c.464A>C, XM_047449296.1:c.464A>C, XM_047449321.1:c.464A>C, XM_047449320.1:c.464A>C, XM_047449322.1:c.464A>C, XP_011532585.1:p.Gln155Pro, XP_016863042.1:p.Gln155Pro, XP_016863044.1:p.Gln155Pro, XP_011532586.1:p.Gln155Pro, NP_055559.1:p.Gln155Pro, XP_011532583.1:p.Gln155Pro, XP_016863045.1:p.Gln155Pro, NP_001336008.1:p.Gln155Pro, NP_001336017.1:p.Gln19Pro, NP_001336011.1:p.Gln19Pro, NP_001336013.1:p.Gln19Pro, NP_001336014.1:p.Gln19Pro, NP_001336005.1:p.Gln155Pro, NP_001336004.1:p.Gln155Pro, NP_001127853.1:p.Gln155Pro, NP_001336003.1:p.Gln155Pro, NP_001336006.1:p.Gln155Pro, NP_001336010.1:p.Gln162Pro, NP_001336019.1:p.Gln19Pro, NP_001336002.1:p.Gln155Pro, NP_001336007.1:p.Gln155Pro, NP_001336012.1:p.Gln19Pro, NP_001336018.1:p.Gln19Pro, NP_001336009.1:p.Gln155Pro, NP_001336015.1:p.Gln19Pro, NP_001336016.1:p.Gln19Pro, NP_001336020.1:p.Gln19Pro, XP_047305256.1:p.Gln155Pro, XP_047305272.1:p.Gln155Pro, XP_047305274.1:p.Gln155Pro, XP_047305248.1:p.Gln155Pro, XP_047305262.1:p.Gln155Pro, XP_047305253.1:p.Gln155Pro, XP_047305266.1:p.Gln155Pro, XP_047305251.1:p.Gln155Pro, XP_047305241.1:p.Gln155Pro, XP_047305244.1:p.Gln155Pro, XP_047305243.1:p.Gln155Pro, XP_047305258.1:p.Gln155Pro, XP_047305275.1:p.Gln155Pro, XP_047305255.1:p.Gln155Pro, XP_047305265.1:p.Gln155Pro, XP_047305254.1:p.Gln155Pro, XP_047305245.1:p.Gln155Pro, XP_047305259.1:p.Gln155Pro, XP_047305269.1:p.Gln155Pro, XP_047305246.1:p.Gln155Pro, XP_047305267.1:p.Gln155Pro, XP_047305268.1:p.Gln155Pro, XP_047305273.1:p.Gln155Pro, XP_047305264.1:p.Gln155Pro, XP_047305257.1:p.Gln155Pro, XP_047305271.1:p.Gln155Pro, XP_047305250.1:p.Gln155Pro, XP_047305242.1:p.Gln155Pro, XP_047305240.1:p.Gln155Pro, XP_047305261.1:p.Gln155Pro, XP_047305247.1:p.Gln155Pro, XP_047305260.1:p.Gln155Pro, XP_047305249.1:p.Gln155Pro, XP_047305270.1:p.Gln155Pro, XP_047305252.1:p.Gln155Pro, XP_047305277.1:p.Gln155Pro, XP_047305276.1:p.Gln155Pro, XP_047305278.1:p.Gln155Pro

                              15.

                              rs1467716671 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:17214231 (GRCh38)
                                3:17255723 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:17214230:G:A
                                Gene:
                                TBC1D5 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000111/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.17214231G>A, NC_000003.11:g.17255723G>A, XM_011534283.4:c.1794C>T, XM_011534283.3:c.1794C>T, XM_011534283.2:c.1794C>T, XM_011534283.1:c.1794C>T, XM_017007553.3:c.1794C>T, XM_017007553.2:c.1794C>T, XM_017007553.1:c.1794C>T, XM_017007555.3:c.1794C>T, XM_017007555.2:c.1794C>T, XM_017007555.1:c.1794C>T, XM_011534284.3:c.1794C>T, XM_011534284.2:c.1794C>T, XM_011534284.1:c.1794C>T, NM_014744.2:c.1728C>T, XM_011534281.2:c.1794C>T, XM_011534281.1:c.1794C>T, XM_017007556.2:c.1794C>T, XM_017007556.1:c.1794C>T, NM_001349079.2:c.1728C>T, NM_001349079.1:c.1728C>T, NM_001349088.2:c.1320C>T, NM_001349088.1:c.1320C>T, NM_001349082.2:c.1386C>T, NM_001349082.1:c.1386C>T, NM_001349084.2:c.1386C>T, NM_001349084.1:c.1386C>T, NM_001349085.2:c.1386C>T, NM_001349085.1:c.1386C>T, NM_001349076.2:c.1728C>T, NM_001349076.1:c.1728C>T, NM_001349075.2:c.1794C>T, NM_001349075.1:c.1794C>T, NM_001134381.2:c.1794C>T, NM_001134381.1:c.1794C>T, NM_001349074.2:c.1794C>T, NM_001349074.1:c.1794C>T, NM_001349077.2:c.1728C>T, NM_001349077.1:c.1728C>T, NM_001349081.2:c.1749C>T, NM_001349081.1:c.1749C>T, NM_001349090.2:c.1320C>T, NM_001349090.1:c.1320C>T, NM_001349073.2:c.1794C>T, NM_001349073.1:c.1794C>T, NM_001349078.2:c.1728C>T, NM_001349078.1:c.1728C>T, NM_001349083.2:c.1386C>T, NM_001349083.1:c.1386C>T, NM_001349089.2:c.1320C>T, NM_001349089.1:c.1320C>T, NM_001349080.2:c.1728C>T, NM_001349080.1:c.1728C>T, NM_001349086.2:c.1386C>T, NM_001349086.1:c.1386C>T, NM_001349087.2:c.1320C>T, NM_001349087.1:c.1320C>T, NM_001349091.2:c.1320C>T, NM_001349091.1:c.1320C>T, XM_047449300.1:c.1728C>T, XM_047449316.1:c.1728C>T, XM_047449318.1:c.1728C>T, XM_047449292.1:c.1728C>T, XM_047449306.1:c.1728C>T, XM_047449297.1:c.1728C>T, XM_047449310.1:c.1728C>T, XM_047449295.1:c.1728C>T, XM_047449285.1:c.1794C>T, XM_047449288.1:c.1794C>T, XM_047449287.1:c.1794C>T, XM_047449302.1:c.1728C>T, XM_047449319.1:c.1728C>T, XM_047449299.1:c.1728C>T, XM_047449309.1:c.1728C>T, XM_047449298.1:c.1728C>T, XM_047449289.1:c.1794C>T, XM_047449303.1:c.1728C>T, XM_047449313.1:c.1728C>T, XM_047449290.1:c.1794C>T, XM_047449311.1:c.1728C>T, XM_047449312.1:c.1728C>T, XM_047449317.1:c.1728C>T, XM_047449308.1:c.1728C>T, XM_047449301.1:c.1728C>T, XM_047449315.1:c.1728C>T, XM_047449294.1:c.1728C>T, XM_047449286.1:c.1794C>T, XM_047449284.1:c.1794C>T, NM_001134380.1:c.1728C>T, XM_047449305.1:c.1728C>T, XM_047449291.1:c.1728C>T, XM_047449304.1:c.1728C>T, XM_047449293.1:c.1728C>T, XM_047449314.1:c.1728C>T, XM_047449296.1:c.1728C>T

                                16.

                                rs1466824433 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  3:17258521 (GRCh38)
                                  3:17300013 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:17258520:A:T
                                  Gene:
                                  TBC1D5 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.17258521A>T, NC_000003.11:g.17300013A>T, XM_011534283.4:c.1316T>A, XM_011534283.3:c.1316T>A, XM_011534283.2:c.1316T>A, XM_011534283.1:c.1316T>A, XM_017007553.3:c.1316T>A, XM_017007553.2:c.1316T>A, XM_017007553.1:c.1316T>A, XM_017007555.3:c.1316T>A, XM_017007555.2:c.1316T>A, XM_017007555.1:c.1316T>A, XM_011534284.3:c.1316T>A, XM_011534284.2:c.1316T>A, XM_011534284.1:c.1316T>A, NM_014744.2:c.1316T>A, XM_011534281.2:c.1316T>A, XM_011534281.1:c.1316T>A, XM_017007556.2:c.1316T>A, XM_017007556.1:c.1316T>A, NM_001349079.2:c.1316T>A, NM_001349079.1:c.1316T>A, NM_001349088.2:c.908T>A, NM_001349088.1:c.908T>A, NM_001349082.2:c.908T>A, NM_001349082.1:c.908T>A, NM_001349084.2:c.908T>A, NM_001349084.1:c.908T>A, NM_001349085.2:c.908T>A, NM_001349085.1:c.908T>A, NM_001349076.2:c.1316T>A, NM_001349076.1:c.1316T>A, NM_001349075.2:c.1316T>A, NM_001349075.1:c.1316T>A, NM_001134381.2:c.1316T>A, NM_001134381.1:c.1316T>A, NM_001349074.2:c.1316T>A, NM_001349074.1:c.1316T>A, NM_001349077.2:c.1316T>A, NM_001349077.1:c.1316T>A, NM_001349081.2:c.1337T>A, NM_001349081.1:c.1337T>A, NM_001349090.2:c.908T>A, NM_001349090.1:c.908T>A, NM_001349073.2:c.1316T>A, NM_001349073.1:c.1316T>A, NM_001349078.2:c.1316T>A, NM_001349078.1:c.1316T>A, NM_001349083.2:c.908T>A, NM_001349083.1:c.908T>A, NM_001349089.2:c.908T>A, NM_001349089.1:c.908T>A, NM_001349080.2:c.1316T>A, NM_001349080.1:c.1316T>A, NM_001349086.2:c.908T>A, NM_001349086.1:c.908T>A, NM_001349087.2:c.908T>A, NM_001349087.1:c.908T>A, NM_001349091.2:c.908T>A, NM_001349091.1:c.908T>A, XM_047449300.1:c.1316T>A, XM_047449316.1:c.1316T>A, XM_047449318.1:c.1316T>A, XM_047449292.1:c.1316T>A, XM_047449306.1:c.1316T>A, XM_047449297.1:c.1316T>A, XM_047449310.1:c.1316T>A, XM_047449295.1:c.1316T>A, XM_047449285.1:c.1316T>A, XM_047449288.1:c.1316T>A, XM_047449287.1:c.1316T>A, XM_047449302.1:c.1316T>A, XM_047449319.1:c.1316T>A, XM_047449299.1:c.1316T>A, XM_047449309.1:c.1316T>A, XM_047449298.1:c.1316T>A, XM_047449289.1:c.1316T>A, XM_047449303.1:c.1316T>A, XM_047449313.1:c.1316T>A, XM_047449290.1:c.1316T>A, XM_047449311.1:c.1316T>A, XM_047449312.1:c.1316T>A, XM_047449317.1:c.1316T>A, XM_047449308.1:c.1316T>A, XM_047449301.1:c.1316T>A, XM_047449315.1:c.1316T>A, XM_047449294.1:c.1316T>A, XM_047449286.1:c.1316T>A, XM_047449284.1:c.1316T>A, NM_001134380.1:c.1316T>A, XM_047449305.1:c.1316T>A, XM_047449291.1:c.1316T>A, XM_047449304.1:c.1316T>A, XM_047449293.1:c.1316T>A, XM_047449314.1:c.1316T>A, XM_047449296.1:c.1316T>A, XM_047449321.1:c.1316T>A, XM_047449320.1:c.1316T>A, XM_047449322.1:c.1316T>A, XP_011532585.1:p.Leu439His, XP_016863042.1:p.Leu439His, XP_016863044.1:p.Leu439His, XP_011532586.1:p.Leu439His, NP_055559.1:p.Leu439His, XP_011532583.1:p.Leu439His, XP_016863045.1:p.Leu439His, NP_001336008.1:p.Leu439His, NP_001336017.1:p.Leu303His, NP_001336011.1:p.Leu303His, NP_001336013.1:p.Leu303His, NP_001336014.1:p.Leu303His, NP_001336005.1:p.Leu439His, NP_001336004.1:p.Leu439His, NP_001127853.1:p.Leu439His, NP_001336003.1:p.Leu439His, NP_001336006.1:p.Leu439His, NP_001336010.1:p.Leu446His, NP_001336019.1:p.Leu303His, NP_001336002.1:p.Leu439His, NP_001336007.1:p.Leu439His, NP_001336012.1:p.Leu303His, NP_001336018.1:p.Leu303His, NP_001336009.1:p.Leu439His, NP_001336015.1:p.Leu303His, NP_001336016.1:p.Leu303His, NP_001336020.1:p.Leu303His, XP_047305256.1:p.Leu439His, XP_047305272.1:p.Leu439His, XP_047305274.1:p.Leu439His, XP_047305248.1:p.Leu439His, XP_047305262.1:p.Leu439His, XP_047305253.1:p.Leu439His, XP_047305266.1:p.Leu439His, XP_047305251.1:p.Leu439His, XP_047305241.1:p.Leu439His, XP_047305244.1:p.Leu439His, XP_047305243.1:p.Leu439His, XP_047305258.1:p.Leu439His, XP_047305275.1:p.Leu439His, XP_047305255.1:p.Leu439His, XP_047305265.1:p.Leu439His, XP_047305254.1:p.Leu439His, XP_047305245.1:p.Leu439His, XP_047305259.1:p.Leu439His, XP_047305269.1:p.Leu439His, XP_047305246.1:p.Leu439His, XP_047305267.1:p.Leu439His, XP_047305268.1:p.Leu439His, XP_047305273.1:p.Leu439His, XP_047305264.1:p.Leu439His, XP_047305257.1:p.Leu439His, XP_047305271.1:p.Leu439His, XP_047305250.1:p.Leu439His, XP_047305242.1:p.Leu439His, XP_047305240.1:p.Leu439His, XP_047305261.1:p.Leu439His, XP_047305247.1:p.Leu439His, XP_047305260.1:p.Leu439His, XP_047305249.1:p.Leu439His, XP_047305270.1:p.Leu439His, XP_047305252.1:p.Leu439His, XP_047305277.1:p.Leu439His, XP_047305276.1:p.Leu439His, XP_047305278.1:p.Leu439His

                                  17.

                                  rs1465058416 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    3:17291963 (GRCh38)
                                    3:17333455 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:17291962:T:A,NC_000003.12:17291962:T:C
                                    Gene:
                                    TBC1D5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.17291963T>A, NC_000003.12:g.17291963T>C, NC_000003.11:g.17333455T>A, NC_000003.11:g.17333455T>C, XM_011534283.4:c.1177A>T, XM_011534283.4:c.1177A>G, XM_011534283.3:c.1177A>T, XM_011534283.3:c.1177A>G, XM_011534283.2:c.1177A>T, XM_011534283.2:c.1177A>G, XM_011534283.1:c.1177A>T, XM_011534283.1:c.1177A>G, XM_017007553.3:c.1177A>T, XM_017007553.3:c.1177A>G, XM_017007553.2:c.1177A>T, XM_017007553.2:c.1177A>G, XM_017007553.1:c.1177A>T, XM_017007553.1:c.1177A>G, XM_017007555.3:c.1177A>T, XM_017007555.3:c.1177A>G, XM_017007555.2:c.1177A>T, XM_017007555.2:c.1177A>G, XM_017007555.1:c.1177A>T, XM_017007555.1:c.1177A>G, XM_011534284.3:c.1177A>T, XM_011534284.3:c.1177A>G, XM_011534284.2:c.1177A>T, XM_011534284.2:c.1177A>G, XM_011534284.1:c.1177A>T, XM_011534284.1:c.1177A>G, NM_014744.2:c.1177A>T, NM_014744.2:c.1177A>G, XM_011534281.2:c.1177A>T, XM_011534281.2:c.1177A>G, XM_011534281.1:c.1177A>T, XM_011534281.1:c.1177A>G, XM_017007556.2:c.1177A>T, XM_017007556.2:c.1177A>G, XM_017007556.1:c.1177A>T, XM_017007556.1:c.1177A>G, NM_001349079.2:c.1177A>T, NM_001349079.2:c.1177A>G, NM_001349079.1:c.1177A>T, NM_001349079.1:c.1177A>G, NM_001349088.2:c.769A>T, NM_001349088.2:c.769A>G, NM_001349088.1:c.769A>T, NM_001349088.1:c.769A>G, NM_001349082.2:c.769A>T, NM_001349082.2:c.769A>G, NM_001349082.1:c.769A>T, NM_001349082.1:c.769A>G, NM_001349084.2:c.769A>T, NM_001349084.2:c.769A>G, NM_001349084.1:c.769A>T, NM_001349084.1:c.769A>G, NM_001349085.2:c.769A>T, NM_001349085.2:c.769A>G, NM_001349085.1:c.769A>T, NM_001349085.1:c.769A>G, NM_001349076.2:c.1177A>T, NM_001349076.2:c.1177A>G, NM_001349076.1:c.1177A>T, NM_001349076.1:c.1177A>G, NM_001349075.2:c.1177A>T, NM_001349075.2:c.1177A>G, NM_001349075.1:c.1177A>T, NM_001349075.1:c.1177A>G, NM_001134381.2:c.1177A>T, NM_001134381.2:c.1177A>G, NM_001134381.1:c.1177A>T, NM_001134381.1:c.1177A>G, NM_001349074.2:c.1177A>T, NM_001349074.2:c.1177A>G, NM_001349074.1:c.1177A>T, NM_001349074.1:c.1177A>G, NM_001349077.2:c.1177A>T, NM_001349077.2:c.1177A>G, NM_001349077.1:c.1177A>T, NM_001349077.1:c.1177A>G, NM_001349081.2:c.1198A>T, NM_001349081.2:c.1198A>G, NM_001349081.1:c.1198A>T, NM_001349081.1:c.1198A>G, NM_001349090.2:c.769A>T, NM_001349090.2:c.769A>G, NM_001349090.1:c.769A>T, NM_001349090.1:c.769A>G, NM_001349073.2:c.1177A>T, NM_001349073.2:c.1177A>G, NM_001349073.1:c.1177A>T, NM_001349073.1:c.1177A>G, NM_001349078.2:c.1177A>T, NM_001349078.2:c.1177A>G, NM_001349078.1:c.1177A>T, NM_001349078.1:c.1177A>G, NM_001349083.2:c.769A>T, NM_001349083.2:c.769A>G, NM_001349083.1:c.769A>T, NM_001349083.1:c.769A>G, NM_001349089.2:c.769A>T, NM_001349089.2:c.769A>G, NM_001349089.1:c.769A>T, NM_001349089.1:c.769A>G, NM_001349080.2:c.1177A>T, NM_001349080.2:c.1177A>G, NM_001349080.1:c.1177A>T, NM_001349080.1:c.1177A>G, NM_001349086.2:c.769A>T, NM_001349086.2:c.769A>G, NM_001349086.1:c.769A>T, NM_001349086.1:c.769A>G, NM_001349087.2:c.769A>T, NM_001349087.2:c.769A>G, NM_001349087.1:c.769A>T, NM_001349087.1:c.769A>G, NM_001349091.2:c.769A>T, NM_001349091.2:c.769A>G, NM_001349091.1:c.769A>T, NM_001349091.1:c.769A>G, XM_047449300.1:c.1177A>T, XM_047449300.1:c.1177A>G, XM_047449316.1:c.1177A>T, XM_047449316.1:c.1177A>G, XM_047449318.1:c.1177A>T, XM_047449318.1:c.1177A>G, XM_047449292.1:c.1177A>T, XM_047449292.1:c.1177A>G, XM_047449306.1:c.1177A>T, XM_047449306.1:c.1177A>G, XM_047449297.1:c.1177A>T, XM_047449297.1:c.1177A>G, XM_047449310.1:c.1177A>T, XM_047449310.1:c.1177A>G, XM_047449295.1:c.1177A>T, XM_047449295.1:c.1177A>G, XM_047449285.1:c.1177A>T, XM_047449285.1:c.1177A>G, XM_047449288.1:c.1177A>T, XM_047449288.1:c.1177A>G, XM_047449287.1:c.1177A>T, XM_047449287.1:c.1177A>G, XM_047449302.1:c.1177A>T, XM_047449302.1:c.1177A>G, XM_047449319.1:c.1177A>T, XM_047449319.1:c.1177A>G, XM_047449299.1:c.1177A>T, XM_047449299.1:c.1177A>G, XM_047449309.1:c.1177A>T, XM_047449309.1:c.1177A>G, XM_047449298.1:c.1177A>T, XM_047449298.1:c.1177A>G, XM_047449289.1:c.1177A>T, XM_047449289.1:c.1177A>G, XM_047449303.1:c.1177A>T, XM_047449303.1:c.1177A>G, XM_047449313.1:c.1177A>T, XM_047449313.1:c.1177A>G, XM_047449290.1:c.1177A>T, XM_047449290.1:c.1177A>G, XM_047449311.1:c.1177A>T, XM_047449311.1:c.1177A>G, XM_047449312.1:c.1177A>T, XM_047449312.1:c.1177A>G, XM_047449317.1:c.1177A>T, XM_047449317.1:c.1177A>G, XM_047449308.1:c.1177A>T, XM_047449308.1:c.1177A>G, XM_047449301.1:c.1177A>T, XM_047449301.1:c.1177A>G, XM_047449315.1:c.1177A>T, XM_047449315.1:c.1177A>G, XM_047449294.1:c.1177A>T, XM_047449294.1:c.1177A>G, XM_047449286.1:c.1177A>T, XM_047449286.1:c.1177A>G, XM_047449284.1:c.1177A>T, XM_047449284.1:c.1177A>G, NM_001134380.1:c.1177A>T, NM_001134380.1:c.1177A>G, XM_047449305.1:c.1177A>T, XM_047449305.1:c.1177A>G, XM_047449291.1:c.1177A>T, XM_047449291.1:c.1177A>G, XM_047449304.1:c.1177A>T, XM_047449304.1:c.1177A>G, XM_047449293.1:c.1177A>T, XM_047449293.1:c.1177A>G, XM_047449314.1:c.1177A>T, XM_047449314.1:c.1177A>G, XM_047449296.1:c.1177A>T, XM_047449296.1:c.1177A>G, XM_047449321.1:c.1177A>T, XM_047449321.1:c.1177A>G, XM_047449320.1:c.1177A>T, XM_047449320.1:c.1177A>G, XM_047449322.1:c.1177A>T, XM_047449322.1:c.1177A>G, XP_011532585.1:p.Met393Leu, XP_011532585.1:p.Met393Val, XP_016863042.1:p.Met393Leu, XP_016863042.1:p.Met393Val, XP_016863044.1:p.Met393Leu, XP_016863044.1:p.Met393Val, XP_011532586.1:p.Met393Leu, XP_011532586.1:p.Met393Val, NP_055559.1:p.Met393Leu, NP_055559.1:p.Met393Val, XP_011532583.1:p.Met393Leu, XP_011532583.1:p.Met393Val, XP_016863045.1:p.Met393Leu, XP_016863045.1:p.Met393Val, NP_001336008.1:p.Met393Leu, NP_001336008.1:p.Met393Val, NP_001336017.1:p.Met257Leu, NP_001336017.1:p.Met257Val, NP_001336011.1:p.Met257Leu, NP_001336011.1:p.Met257Val, NP_001336013.1:p.Met257Leu, NP_001336013.1:p.Met257Val, NP_001336014.1:p.Met257Leu, NP_001336014.1:p.Met257Val, NP_001336005.1:p.Met393Leu, NP_001336005.1:p.Met393Val, NP_001336004.1:p.Met393Leu, NP_001336004.1:p.Met393Val, NP_001127853.1:p.Met393Leu, NP_001127853.1:p.Met393Val, NP_001336003.1:p.Met393Leu, NP_001336003.1:p.Met393Val, NP_001336006.1:p.Met393Leu, NP_001336006.1:p.Met393Val, NP_001336010.1:p.Met400Leu, NP_001336010.1:p.Met400Val, NP_001336019.1:p.Met257Leu, NP_001336019.1:p.Met257Val, NP_001336002.1:p.Met393Leu, NP_001336002.1:p.Met393Val, NP_001336007.1:p.Met393Leu, NP_001336007.1:p.Met393Val, NP_001336012.1:p.Met257Leu, NP_001336012.1:p.Met257Val, NP_001336018.1:p.Met257Leu, NP_001336018.1:p.Met257Val, NP_001336009.1:p.Met393Leu, NP_001336009.1:p.Met393Val, NP_001336015.1:p.Met257Leu, NP_001336015.1:p.Met257Val, NP_001336016.1:p.Met257Leu, NP_001336016.1:p.Met257Val, NP_001336020.1:p.Met257Leu, NP_001336020.1:p.Met257Val, XP_047305256.1:p.Met393Leu, XP_047305256.1:p.Met393Val, XP_047305272.1:p.Met393Leu, XP_047305272.1:p.Met393Val, XP_047305274.1:p.Met393Leu, XP_047305274.1:p.Met393Val, XP_047305248.1:p.Met393Leu, XP_047305248.1:p.Met393Val, XP_047305262.1:p.Met393Leu, XP_047305262.1:p.Met393Val, XP_047305253.1:p.Met393Leu, XP_047305253.1:p.Met393Val, XP_047305266.1:p.Met393Leu, XP_047305266.1:p.Met393Val, XP_047305251.1:p.Met393Leu, XP_047305251.1:p.Met393Val, XP_047305241.1:p.Met393Leu, XP_047305241.1:p.Met393Val, XP_047305244.1:p.Met393Leu, XP_047305244.1:p.Met393Val, XP_047305243.1:p.Met393Leu, XP_047305243.1:p.Met393Val, XP_047305258.1:p.Met393Leu, XP_047305258.1:p.Met393Val, XP_047305275.1:p.Met393Leu, XP_047305275.1:p.Met393Val, XP_047305255.1:p.Met393Leu, XP_047305255.1:p.Met393Val, XP_047305265.1:p.Met393Leu, XP_047305265.1:p.Met393Val, XP_047305254.1:p.Met393Leu, XP_047305254.1:p.Met393Val, XP_047305245.1:p.Met393Leu, XP_047305245.1:p.Met393Val, XP_047305259.1:p.Met393Leu, XP_047305259.1:p.Met393Val, XP_047305269.1:p.Met393Leu, XP_047305269.1:p.Met393Val, XP_047305246.1:p.Met393Leu, XP_047305246.1:p.Met393Val, XP_047305267.1:p.Met393Leu, XP_047305267.1:p.Met393Val, XP_047305268.1:p.Met393Leu, XP_047305268.1:p.Met393Val, XP_047305273.1:p.Met393Leu, XP_047305273.1:p.Met393Val, XP_047305264.1:p.Met393Leu, XP_047305264.1:p.Met393Val, XP_047305257.1:p.Met393Leu, XP_047305257.1:p.Met393Val, XP_047305271.1:p.Met393Leu, XP_047305271.1:p.Met393Val, XP_047305250.1:p.Met393Leu, XP_047305250.1:p.Met393Val, XP_047305242.1:p.Met393Leu, XP_047305242.1:p.Met393Val, XP_047305240.1:p.Met393Leu, XP_047305240.1:p.Met393Val, XP_047305261.1:p.Met393Leu, XP_047305261.1:p.Met393Val, XP_047305247.1:p.Met393Leu, XP_047305247.1:p.Met393Val, XP_047305260.1:p.Met393Leu, XP_047305260.1:p.Met393Val, XP_047305249.1:p.Met393Leu, XP_047305249.1:p.Met393Val, XP_047305270.1:p.Met393Leu, XP_047305270.1:p.Met393Val, XP_047305252.1:p.Met393Leu, XP_047305252.1:p.Met393Val, XP_047305277.1:p.Met393Leu, XP_047305277.1:p.Met393Val, XP_047305276.1:p.Met393Leu, XP_047305276.1:p.Met393Val, XP_047305278.1:p.Met393Leu, XP_047305278.1:p.Met393Val

                                    18.

                                    rs1463757179 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      3:17161024 (GRCh38)
                                      3:17202517 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:17161024:T:TT
                                      Gene:
                                      TBC1D5 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.17161025dup, NC_000003.11:g.17202517dup, XM_011534283.4:c.2392dup, XM_011534283.3:c.2392dup, XM_011534283.2:c.2392dup, XM_011534283.1:c.2392dup, XM_017007553.3:c.2392dup, XM_017007553.2:c.2392dup, XM_017007553.1:c.2392dup, XM_017007555.3:c.2392dup, XM_017007555.2:c.2392dup, XM_017007555.1:c.2392dup, XM_011534284.3:c.2392dup, XM_011534284.2:c.2392dup, XM_011534284.1:c.2392dup, NM_014744.2:c.2326dup, XM_011534281.2:c.2392dup, XM_011534281.1:c.2392dup, XM_017007556.2:c.2392dup, XM_017007556.1:c.2392dup, NM_001349079.2:c.2326dup, NM_001349079.1:c.2326dup, NM_001349088.2:c.1918dup, NM_001349088.1:c.1918dup, NM_001349082.2:c.1984dup, NM_001349082.1:c.1984dup, NM_001349084.2:c.1984dup, NM_001349084.1:c.1984dup, NM_001349085.2:c.1984dup, NM_001349085.1:c.1984dup, NM_001349076.2:c.2326dup, NM_001349076.1:c.2326dup, NM_001349075.2:c.2392dup, NM_001349075.1:c.2392dup, NM_001134381.2:c.2392dup, NM_001134381.1:c.2392dup, NM_001349074.2:c.2392dup, NM_001349074.1:c.2392dup, NM_001349077.2:c.2326dup, NM_001349077.1:c.2326dup, NM_001349081.2:c.2347dup, NM_001349081.1:c.2347dup, NM_001349090.2:c.1918dup, NM_001349090.1:c.1918dup, NM_001349073.2:c.2392dup, NM_001349073.1:c.2392dup, NM_001349078.2:c.2326dup, NM_001349078.1:c.2326dup, NM_001349083.2:c.1984dup, NM_001349083.1:c.1984dup, NM_001349089.2:c.1918dup, NM_001349089.1:c.1918dup, NM_001349080.2:c.2326dup, NM_001349080.1:c.2326dup, NM_001349086.2:c.1984dup, NM_001349086.1:c.1984dup, NM_001349087.2:c.1918dup, NM_001349087.1:c.1918dup, NM_001349091.2:c.1918dup, NM_001349091.1:c.1918dup, XM_047449300.1:c.2326dup, XM_047449316.1:c.2326dup, XM_047449318.1:c.2326dup, XM_047449292.1:c.2326dup, XM_047449306.1:c.2326dup, XM_047449297.1:c.2326dup, XM_047449310.1:c.2326dup, XM_047449295.1:c.2326dup, XM_047449285.1:c.2392dup, XM_047449288.1:c.2392dup, XM_047449287.1:c.2392dup, XM_047449302.1:c.2326dup, XM_047449319.1:c.2326dup, XM_047449299.1:c.2326dup, XM_047449309.1:c.2326dup, XM_047449298.1:c.2326dup, XM_047449289.1:c.2392dup, XM_047449303.1:c.2326dup, XM_047449313.1:c.2326dup, XM_047449290.1:c.2392dup, XM_047449311.1:c.2326dup, XM_047449312.1:c.2326dup, XM_047449317.1:c.2326dup, XM_047449308.1:c.2326dup, XM_047449301.1:c.2326dup, XM_047449315.1:c.2326dup, XM_047449294.1:c.2326dup, XM_047449286.1:c.2392dup, XM_047449284.1:c.2392dup, NM_001134380.1:c.2326dup, XM_047449305.1:c.2326dup, XM_047449291.1:c.2326dup, XM_047449304.1:c.2326dup, XM_047449293.1:c.2326dup, XM_047449314.1:c.2326dup, XM_047449296.1:c.2326dup, XP_011532585.1:p.Ser798fs, XP_016863042.1:p.Ser798fs, XP_016863044.1:p.Ser798fs, XP_011532586.1:p.Ser798fs, NP_055559.1:p.Ser776fs, XP_011532583.1:p.Ser798fs, XP_016863045.1:p.Ser798fs, NP_001336008.1:p.Ser776fs, NP_001336017.1:p.Ser640fs, NP_001336011.1:p.Ser662fs, NP_001336013.1:p.Ser662fs, NP_001336014.1:p.Ser662fs, NP_001336005.1:p.Ser776fs, NP_001336004.1:p.Ser798fs, NP_001127853.1:p.Ser798fs, NP_001336003.1:p.Ser798fs, NP_001336006.1:p.Ser776fs, NP_001336010.1:p.Ser783fs, NP_001336019.1:p.Ser640fs, NP_001336002.1:p.Ser798fs, NP_001336007.1:p.Ser776fs, NP_001336012.1:p.Ser662fs, NP_001336018.1:p.Ser640fs, NP_001336009.1:p.Ser776fs, NP_001336015.1:p.Ser662fs, NP_001336016.1:p.Ser640fs, NP_001336020.1:p.Ser640fs, XP_047305256.1:p.Ser776fs, XP_047305272.1:p.Ser776fs, XP_047305274.1:p.Ser776fs, XP_047305248.1:p.Ser776fs, XP_047305262.1:p.Ser776fs, XP_047305253.1:p.Ser776fs, XP_047305266.1:p.Ser776fs, XP_047305251.1:p.Ser776fs, XP_047305241.1:p.Ser798fs, XP_047305244.1:p.Ser798fs, XP_047305243.1:p.Ser798fs, XP_047305258.1:p.Ser776fs, XP_047305275.1:p.Ser776fs, XP_047305255.1:p.Ser776fs, XP_047305265.1:p.Ser776fs, XP_047305254.1:p.Ser776fs, XP_047305245.1:p.Ser798fs, XP_047305259.1:p.Ser776fs, XP_047305269.1:p.Ser776fs, XP_047305246.1:p.Ser798fs, XP_047305267.1:p.Ser776fs, XP_047305268.1:p.Ser776fs, XP_047305273.1:p.Ser776fs, XP_047305264.1:p.Ser776fs, XP_047305257.1:p.Ser776fs, XP_047305271.1:p.Ser776fs, XP_047305250.1:p.Ser776fs, XP_047305242.1:p.Ser798fs, XP_047305240.1:p.Ser798fs, XP_047305261.1:p.Ser776fs, XP_047305247.1:p.Ser776fs, XP_047305260.1:p.Ser776fs, XP_047305249.1:p.Ser776fs, XP_047305270.1:p.Ser776fs, XP_047305252.1:p.Ser776fs

                                      19.

                                      rs1463242666 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        3:17291934 (GRCh38)
                                        3:17333426 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:17291933:G:C
                                        Gene:
                                        TBC1D5 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.17291934G>C, NC_000003.11:g.17333426G>C, XM_011534283.4:c.1206C>G, XM_011534283.3:c.1206C>G, XM_011534283.2:c.1206C>G, XM_011534283.1:c.1206C>G, XM_017007553.3:c.1206C>G, XM_017007553.2:c.1206C>G, XM_017007553.1:c.1206C>G, XM_017007555.3:c.1206C>G, XM_017007555.2:c.1206C>G, XM_017007555.1:c.1206C>G, XM_011534284.3:c.1206C>G, XM_011534284.2:c.1206C>G, XM_011534284.1:c.1206C>G, NM_014744.2:c.1206C>G, XM_011534281.2:c.1206C>G, XM_011534281.1:c.1206C>G, XM_017007556.2:c.1206C>G, XM_017007556.1:c.1206C>G, NM_001349079.2:c.1206C>G, NM_001349079.1:c.1206C>G, NM_001349088.2:c.798C>G, NM_001349088.1:c.798C>G, NM_001349082.2:c.798C>G, NM_001349082.1:c.798C>G, NM_001349084.2:c.798C>G, NM_001349084.1:c.798C>G, NM_001349085.2:c.798C>G, NM_001349085.1:c.798C>G, NM_001349076.2:c.1206C>G, NM_001349076.1:c.1206C>G, NM_001349075.2:c.1206C>G, NM_001349075.1:c.1206C>G, NM_001134381.2:c.1206C>G, NM_001134381.1:c.1206C>G, NM_001349074.2:c.1206C>G, NM_001349074.1:c.1206C>G, NM_001349077.2:c.1206C>G, NM_001349077.1:c.1206C>G, NM_001349081.2:c.1227C>G, NM_001349081.1:c.1227C>G, NM_001349090.2:c.798C>G, NM_001349090.1:c.798C>G, NM_001349073.2:c.1206C>G, NM_001349073.1:c.1206C>G, NM_001349078.2:c.1206C>G, NM_001349078.1:c.1206C>G, NM_001349083.2:c.798C>G, NM_001349083.1:c.798C>G, NM_001349089.2:c.798C>G, NM_001349089.1:c.798C>G, NM_001349080.2:c.1206C>G, NM_001349080.1:c.1206C>G, NM_001349086.2:c.798C>G, NM_001349086.1:c.798C>G, NM_001349087.2:c.798C>G, NM_001349087.1:c.798C>G, NM_001349091.2:c.798C>G, NM_001349091.1:c.798C>G, XM_047449300.1:c.1206C>G, XM_047449316.1:c.1206C>G, XM_047449318.1:c.1206C>G, XM_047449292.1:c.1206C>G, XM_047449306.1:c.1206C>G, XM_047449297.1:c.1206C>G, XM_047449310.1:c.1206C>G, XM_047449295.1:c.1206C>G, XM_047449285.1:c.1206C>G, XM_047449288.1:c.1206C>G, XM_047449287.1:c.1206C>G, XM_047449302.1:c.1206C>G, XM_047449319.1:c.1206C>G, XM_047449299.1:c.1206C>G, XM_047449309.1:c.1206C>G, XM_047449298.1:c.1206C>G, XM_047449289.1:c.1206C>G, XM_047449303.1:c.1206C>G, XM_047449313.1:c.1206C>G, XM_047449290.1:c.1206C>G, XM_047449311.1:c.1206C>G, XM_047449312.1:c.1206C>G, XM_047449317.1:c.1206C>G, XM_047449308.1:c.1206C>G, XM_047449301.1:c.1206C>G, XM_047449315.1:c.1206C>G, XM_047449294.1:c.1206C>G, XM_047449286.1:c.1206C>G, XM_047449284.1:c.1206C>G, NM_001134380.1:c.1206C>G, XM_047449305.1:c.1206C>G, XM_047449291.1:c.1206C>G, XM_047449304.1:c.1206C>G, XM_047449293.1:c.1206C>G, XM_047449314.1:c.1206C>G, XM_047449296.1:c.1206C>G, XM_047449321.1:c.1206C>G, XM_047449320.1:c.1206C>G, XM_047449322.1:c.1206C>G, XP_011532585.1:p.His402Gln, XP_016863042.1:p.His402Gln, XP_016863044.1:p.His402Gln, XP_011532586.1:p.His402Gln, NP_055559.1:p.His402Gln, XP_011532583.1:p.His402Gln, XP_016863045.1:p.His402Gln, NP_001336008.1:p.His402Gln, NP_001336017.1:p.His266Gln, NP_001336011.1:p.His266Gln, NP_001336013.1:p.His266Gln, NP_001336014.1:p.His266Gln, NP_001336005.1:p.His402Gln, NP_001336004.1:p.His402Gln, NP_001127853.1:p.His402Gln, NP_001336003.1:p.His402Gln, NP_001336006.1:p.His402Gln, NP_001336010.1:p.His409Gln, NP_001336019.1:p.His266Gln, NP_001336002.1:p.His402Gln, NP_001336007.1:p.His402Gln, NP_001336012.1:p.His266Gln, NP_001336018.1:p.His266Gln, NP_001336009.1:p.His402Gln, NP_001336015.1:p.His266Gln, NP_001336016.1:p.His266Gln, NP_001336020.1:p.His266Gln, XP_047305256.1:p.His402Gln, XP_047305272.1:p.His402Gln, XP_047305274.1:p.His402Gln, XP_047305248.1:p.His402Gln, XP_047305262.1:p.His402Gln, XP_047305253.1:p.His402Gln, XP_047305266.1:p.His402Gln, XP_047305251.1:p.His402Gln, XP_047305241.1:p.His402Gln, XP_047305244.1:p.His402Gln, XP_047305243.1:p.His402Gln, XP_047305258.1:p.His402Gln, XP_047305275.1:p.His402Gln, XP_047305255.1:p.His402Gln, XP_047305265.1:p.His402Gln, XP_047305254.1:p.His402Gln, XP_047305245.1:p.His402Gln, XP_047305259.1:p.His402Gln, XP_047305269.1:p.His402Gln, XP_047305246.1:p.His402Gln, XP_047305267.1:p.His402Gln, XP_047305268.1:p.His402Gln, XP_047305273.1:p.His402Gln, XP_047305264.1:p.His402Gln, XP_047305257.1:p.His402Gln, XP_047305271.1:p.His402Gln, XP_047305250.1:p.His402Gln, XP_047305242.1:p.His402Gln, XP_047305240.1:p.His402Gln, XP_047305261.1:p.His402Gln, XP_047305247.1:p.His402Gln, XP_047305260.1:p.His402Gln, XP_047305249.1:p.His402Gln, XP_047305270.1:p.His402Gln, XP_047305252.1:p.His402Gln, XP_047305277.1:p.His402Gln, XP_047305276.1:p.His402Gln, XP_047305278.1:p.His402Gln

                                        20.

                                        rs1461620171 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          3:17376593 (GRCh38)
                                          3:17418085 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:17376592:T:G
                                          Gene:
                                          TBC1D5 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.17376593T>G, NC_000003.11:g.17418085T>G, XM_011534283.4:c.633A>C, XM_011534283.3:c.633A>C, XM_011534283.2:c.633A>C, XM_011534283.1:c.633A>C, XM_017007553.3:c.633A>C, XM_017007553.2:c.633A>C, XM_017007553.1:c.633A>C, XM_017007555.3:c.633A>C, XM_017007555.2:c.633A>C, XM_017007555.1:c.633A>C, XM_011534284.3:c.633A>C, XM_011534284.2:c.633A>C, XM_011534284.1:c.633A>C, NM_014744.2:c.633A>C, XM_011534281.2:c.633A>C, XM_011534281.1:c.633A>C, XM_017007556.2:c.633A>C, XM_017007556.1:c.633A>C, NM_001349079.2:c.633A>C, NM_001349079.1:c.633A>C, NM_001349088.2:c.225A>C, NM_001349088.1:c.225A>C, NM_001349082.2:c.225A>C, NM_001349082.1:c.225A>C, NM_001349084.2:c.225A>C, NM_001349084.1:c.225A>C, NM_001349085.2:c.225A>C, NM_001349085.1:c.225A>C, NM_001349076.2:c.633A>C, NM_001349076.1:c.633A>C, NM_001349075.2:c.633A>C, NM_001349075.1:c.633A>C, NM_001134381.2:c.633A>C, NM_001134381.1:c.633A>C, NM_001349074.2:c.633A>C, NM_001349074.1:c.633A>C, NM_001349077.2:c.633A>C, NM_001349077.1:c.633A>C, NM_001349081.2:c.654A>C, NM_001349081.1:c.654A>C, NM_001349090.2:c.225A>C, NM_001349090.1:c.225A>C, NM_001349073.2:c.633A>C, NM_001349073.1:c.633A>C, NM_001349078.2:c.633A>C, NM_001349078.1:c.633A>C, NM_001349083.2:c.225A>C, NM_001349083.1:c.225A>C, NM_001349089.2:c.225A>C, NM_001349089.1:c.225A>C, NM_001349080.2:c.633A>C, NM_001349080.1:c.633A>C, NM_001349086.2:c.225A>C, NM_001349086.1:c.225A>C, NM_001349087.2:c.225A>C, NM_001349087.1:c.225A>C, NM_001349091.2:c.225A>C, NM_001349091.1:c.225A>C, XM_047449300.1:c.633A>C, XM_047449316.1:c.633A>C, XM_047449318.1:c.633A>C, XM_047449292.1:c.633A>C, XM_047449306.1:c.633A>C, XM_047449297.1:c.633A>C, XM_047449310.1:c.633A>C, XM_047449295.1:c.633A>C, XM_047449285.1:c.633A>C, XM_047449288.1:c.633A>C, XM_047449287.1:c.633A>C, XM_047449302.1:c.633A>C, XM_047449319.1:c.633A>C, XM_047449299.1:c.633A>C, XM_047449309.1:c.633A>C, XM_047449298.1:c.633A>C, XM_047449289.1:c.633A>C, XM_047449303.1:c.633A>C, XM_047449313.1:c.633A>C, XM_047449290.1:c.633A>C, XM_047449311.1:c.633A>C, XM_047449312.1:c.633A>C, XM_047449317.1:c.633A>C, XM_047449308.1:c.633A>C, XM_047449301.1:c.633A>C, XM_047449315.1:c.633A>C, XM_047449294.1:c.633A>C, XM_047449286.1:c.633A>C, XM_047449284.1:c.633A>C, NM_001134380.1:c.633A>C, XM_047449305.1:c.633A>C, XM_047449291.1:c.633A>C, XM_047449304.1:c.633A>C, XM_047449293.1:c.633A>C, XM_047449314.1:c.633A>C, XM_047449296.1:c.633A>C, XM_047449321.1:c.633A>C, XM_047449320.1:c.633A>C, XM_047449322.1:c.633A>C

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