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Links from Protein

Items: 1 to 20 of 489

1.

rs1488889672 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    22:47173522 (GRCh38)
    22:47569165 (GRCh37)
    Canonical SPDI:
    NC_000022.11:47173521:C:T
    Gene:
    TBC1D22A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (GnomAD_exomes)
    HGVS:

    2.

    rs1485808665 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:46997700 (GRCh38)
      22:47393596 (GRCh37)
      Canonical SPDI:
      NC_000022.11:46997699:C:T
      Gene:
      TBC1D22A (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000022.11:g.46997700C>T, NC_000022.10:g.47393596C>T, NM_014346.5:c.1192C>T, NM_014346.4:c.1192C>T, NM_014346.3:c.1192C>T, NM_014346.2:c.1192C>T, XM_011530100.4:c.1192C>T, XM_011530100.3:c.1192C>T, XM_011530100.2:c.1192C>T, XM_011530100.1:c.1192C>T, XM_011530102.4:c.1082C>T, XM_011530102.3:c.1082C>T, XM_011530102.2:c.1082C>T, XM_011530102.1:c.1082C>T, XM_017028743.3:c.1192C>T, XM_017028743.2:c.1192C>T, XM_017028743.1:c.1192C>T, XM_017028742.3:c.1288C>T, XM_017028742.2:c.1288C>T, XM_017028742.1:c.1288C>T, XM_017028745.3:c.1015C>T, NM_001284304.2:c.1102C>T, NM_001284304.1:c.1102C>T, NM_001284305.2:c.1051C>T, NM_001284305.1:c.1051C>T, NM_001284303.2:c.958C>T, NM_001284303.1:c.958C>T, XM_047441306.1:c.1288C>T, NR_104292.1:n.1808C>T, NM_001410803.1:c.1015C>T, XM_047441307.1:c.1288C>T, XM_047441308.1:c.1082C>T, XM_047441309.1:c.905C>T, NP_055161.1:p.Arg398Trp, XP_011528402.1:p.Arg398Trp, XP_011528404.1:p.Pro361Leu, XP_016884232.1:p.Arg398Trp, XP_016884231.1:p.Arg430Trp, XP_016884234.1:p.Arg339Trp, NP_001271233.1:p.Arg368Trp, NP_001271234.1:p.Arg351Trp, NP_001271232.1:p.Arg320Trp, XP_047297262.1:p.Arg430Trp, XP_047297263.1:p.Arg430Trp, XP_047297264.1:p.Pro361Leu, XP_047297265.1:p.Pro302Leu

      3.

      rs1484416151 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        22:46793806 (GRCh38)
        22:47189703 (GRCh37)
        Canonical SPDI:
        NC_000022.11:46793805:A:G
        Gene:
        TBC1D22A (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000031/1 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000022.11:g.46793806A>G, NC_000022.10:g.47189703A>G, NM_014346.5:c.425A>G, NM_014346.4:c.425A>G, NM_014346.3:c.425A>G, NM_014346.2:c.425A>G, XM_011530101.4:c.425A>G, XM_011530101.3:c.425A>G, XM_011530101.2:c.425A>G, XM_011530101.1:c.425A>G, XM_011530100.4:c.425A>G, XM_011530100.3:c.425A>G, XM_011530100.2:c.425A>G, XM_011530100.1:c.425A>G, XM_011530102.4:c.425A>G, XM_011530102.3:c.425A>G, XM_011530102.2:c.425A>G, XM_011530102.1:c.425A>G, XM_017028746.3:c.425A>G, XM_017028746.2:c.425A>G, XM_017028746.1:c.425A>G, XM_017028743.3:c.425A>G, XM_017028743.2:c.425A>G, XM_017028743.1:c.425A>G, XM_017028742.3:c.425A>G, XM_017028742.2:c.425A>G, XM_017028742.1:c.425A>G, XM_017028747.3:c.425A>G, XM_017028747.2:c.425A>G, XM_017028747.1:c.425A>G, XM_017028745.3:c.425A>G, NM_001284304.2:c.335A>G, NM_001284304.1:c.335A>G, NM_001284305.2:c.284A>G, NM_001284305.1:c.284A>G, NM_001284303.2:c.368A>G, NM_001284303.1:c.368A>G, XR_007067970.1:n.562A>G, XM_047441306.1:c.425A>G, NR_104292.1:n.1038A>G, NM_001410803.1:c.425A>G, XR_007067971.1:n.562A>G, XM_047441307.1:c.425A>G, XM_047441308.1:c.425A>G, XM_047441309.1:c.425A>G, NP_055161.1:p.Lys142Arg, XP_011528403.1:p.Lys142Arg, XP_011528402.1:p.Lys142Arg, XP_011528404.1:p.Lys142Arg, XP_016884235.1:p.Lys142Arg, XP_016884232.1:p.Lys142Arg, XP_016884231.1:p.Lys142Arg, XP_016884236.1:p.Lys142Arg, XP_016884234.1:p.Lys142Arg, NP_001271233.1:p.Lys112Arg, NP_001271234.1:p.Lys95Arg, NP_001271232.1:p.Lys123Arg, XP_047297262.1:p.Lys142Arg, XP_047297263.1:p.Lys142Arg, XP_047297264.1:p.Lys142Arg, XP_047297265.1:p.Lys142Arg

        4.

        rs1484383950 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:46891365 (GRCh38)
          22:47287261 (GRCh37)
          Canonical SPDI:
          NC_000022.11:46891364:G:A
          Gene:
          TBC1D22A (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.00007/1 (ALFA)
          A=0.00022/1 (Estonian)
          HGVS:
          NC_000022.11:g.46891365G>A, NC_000022.10:g.47287261G>A, NM_014346.5:c.808G>A, NM_014346.4:c.808G>A, NM_014346.3:c.808G>A, NM_014346.2:c.808G>A, XM_011530101.4:c.808G>A, XM_011530101.3:c.808G>A, XM_011530101.2:c.808G>A, XM_011530101.1:c.808G>A, XM_011530100.4:c.808G>A, XM_011530100.3:c.808G>A, XM_011530100.2:c.808G>A, XM_011530100.1:c.808G>A, XM_011530102.4:c.808G>A, XM_011530102.3:c.808G>A, XM_011530102.2:c.808G>A, XM_011530102.1:c.808G>A, XM_017028746.3:c.808G>A, XM_017028746.2:c.808G>A, XM_017028746.1:c.808G>A, XM_017028743.3:c.808G>A, XM_017028743.2:c.808G>A, XM_017028743.1:c.808G>A, XM_017028742.3:c.808G>A, XM_017028742.2:c.808G>A, XM_017028742.1:c.808G>A, XM_017028747.3:c.808G>A, XM_017028747.2:c.808G>A, XM_017028747.1:c.808G>A, XM_017028745.3:c.631G>A, NM_001284304.2:c.718G>A, NM_001284304.1:c.718G>A, NM_001284305.2:c.667G>A, NM_001284305.1:c.667G>A, NM_001284303.2:c.574G>A, NM_001284303.1:c.574G>A, XR_007067970.1:n.945G>A, XM_047441306.1:c.808G>A, NR_104292.1:n.1421G>A, NM_001410803.1:c.631G>A, XR_007067971.1:n.945G>A, XM_047441307.1:c.808G>A, XM_047441308.1:c.808G>A, XM_047441309.1:c.631G>A, NP_055161.1:p.Asp270Asn, XP_011528403.1:p.Asp270Asn, XP_011528402.1:p.Asp270Asn, XP_011528404.1:p.Asp270Asn, XP_016884235.1:p.Asp270Asn, XP_016884232.1:p.Asp270Asn, XP_016884231.1:p.Asp270Asn, XP_016884236.1:p.Asp270Asn, XP_016884234.1:p.Asp211Asn, NP_001271233.1:p.Asp240Asn, NP_001271234.1:p.Asp223Asn, NP_001271232.1:p.Asp192Asn, XP_047297262.1:p.Asp270Asn, XP_047297263.1:p.Asp270Asn, XP_047297264.1:p.Asp270Asn, XP_047297265.1:p.Asp211Asn

          5.

          rs1483432891 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            22:46793815 (GRCh38)
            22:47189712 (GRCh37)
            Canonical SPDI:
            NC_000022.11:46793814:G:A,NC_000022.11:46793814:G:C
            Gene:
            TBC1D22A (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            NC_000022.11:g.46793815G>A, NC_000022.11:g.46793815G>C, NC_000022.10:g.47189712G>A, NC_000022.10:g.47189712G>C, NM_014346.5:c.434G>A, NM_014346.5:c.434G>C, NM_014346.4:c.434G>A, NM_014346.4:c.434G>C, NM_014346.3:c.434G>A, NM_014346.3:c.434G>C, NM_014346.2:c.434G>A, NM_014346.2:c.434G>C, XM_011530101.4:c.434G>A, XM_011530101.4:c.434G>C, XM_011530101.3:c.434G>A, XM_011530101.3:c.434G>C, XM_011530101.2:c.434G>A, XM_011530101.2:c.434G>C, XM_011530101.1:c.434G>A, XM_011530101.1:c.434G>C, XM_011530100.4:c.434G>A, XM_011530100.4:c.434G>C, XM_011530100.3:c.434G>A, XM_011530100.3:c.434G>C, XM_011530100.2:c.434G>A, XM_011530100.2:c.434G>C, XM_011530100.1:c.434G>A, XM_011530100.1:c.434G>C, XM_011530102.4:c.434G>A, XM_011530102.4:c.434G>C, XM_011530102.3:c.434G>A, XM_011530102.3:c.434G>C, XM_011530102.2:c.434G>A, XM_011530102.2:c.434G>C, XM_011530102.1:c.434G>A, XM_011530102.1:c.434G>C, XM_017028746.3:c.434G>A, XM_017028746.3:c.434G>C, XM_017028746.2:c.434G>A, XM_017028746.2:c.434G>C, XM_017028746.1:c.434G>A, XM_017028746.1:c.434G>C, XM_017028743.3:c.434G>A, XM_017028743.3:c.434G>C, XM_017028743.2:c.434G>A, XM_017028743.2:c.434G>C, XM_017028743.1:c.434G>A, XM_017028743.1:c.434G>C, XM_017028742.3:c.434G>A, XM_017028742.3:c.434G>C, XM_017028742.2:c.434G>A, XM_017028742.2:c.434G>C, XM_017028742.1:c.434G>A, XM_017028742.1:c.434G>C, XM_017028747.3:c.434G>A, XM_017028747.3:c.434G>C, XM_017028747.2:c.434G>A, XM_017028747.2:c.434G>C, XM_017028747.1:c.434G>A, XM_017028747.1:c.434G>C, XM_017028745.3:c.434G>A, XM_017028745.3:c.434G>C, NM_001284304.2:c.344G>A, NM_001284304.2:c.344G>C, NM_001284304.1:c.344G>A, NM_001284304.1:c.344G>C, NM_001284305.2:c.293G>A, NM_001284305.2:c.293G>C, NM_001284305.1:c.293G>A, NM_001284305.1:c.293G>C, NM_001284303.2:c.377G>A, NM_001284303.2:c.377G>C, NM_001284303.1:c.377G>A, NM_001284303.1:c.377G>C, XR_007067970.1:n.571G>A, XR_007067970.1:n.571G>C, XM_047441306.1:c.434G>A, XM_047441306.1:c.434G>C, NR_104292.1:n.1047G>A, NR_104292.1:n.1047G>C, NM_001410803.1:c.434G>A, NM_001410803.1:c.434G>C, XR_007067971.1:n.571G>A, XR_007067971.1:n.571G>C, XM_047441307.1:c.434G>A, XM_047441307.1:c.434G>C, XM_047441308.1:c.434G>A, XM_047441308.1:c.434G>C, XM_047441309.1:c.434G>A, XM_047441309.1:c.434G>C, NP_055161.1:p.Ser145Asn, NP_055161.1:p.Ser145Thr, XP_011528403.1:p.Ser145Asn, XP_011528403.1:p.Ser145Thr, XP_011528402.1:p.Ser145Asn, XP_011528402.1:p.Ser145Thr, XP_011528404.1:p.Ser145Asn, XP_011528404.1:p.Ser145Thr, XP_016884235.1:p.Ser145Asn, XP_016884235.1:p.Ser145Thr, XP_016884232.1:p.Ser145Asn, XP_016884232.1:p.Ser145Thr, XP_016884231.1:p.Ser145Asn, XP_016884231.1:p.Ser145Thr, XP_016884236.1:p.Ser145Asn, XP_016884236.1:p.Ser145Thr, XP_016884234.1:p.Ser145Asn, XP_016884234.1:p.Ser145Thr, NP_001271233.1:p.Ser115Asn, NP_001271233.1:p.Ser115Thr, NP_001271234.1:p.Ser98Asn, NP_001271234.1:p.Ser98Thr, NP_001271232.1:p.Ser126Asn, NP_001271232.1:p.Ser126Thr, XP_047297262.1:p.Ser145Asn, XP_047297262.1:p.Ser145Thr, XP_047297263.1:p.Ser145Asn, XP_047297263.1:p.Ser145Thr, XP_047297264.1:p.Ser145Asn, XP_047297264.1:p.Ser145Thr, XP_047297265.1:p.Ser145Asn, XP_047297265.1:p.Ser145Thr

            6.

            rs1481794938 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:46793597 (GRCh38)
              22:47189494 (GRCh37)
              Canonical SPDI:
              NC_000022.11:46793596:G:C
              Gene:
              TBC1D22A (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000014/2 (GnomAD)
              C=0.000032/8 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.46793597G>C, NC_000022.10:g.47189494G>C, NM_014346.5:c.216G>C, NM_014346.4:c.216G>C, NM_014346.3:c.216G>C, NM_014346.2:c.216G>C, XM_011530101.4:c.216G>C, XM_011530101.3:c.216G>C, XM_011530101.2:c.216G>C, XM_011530101.1:c.216G>C, XM_011530100.4:c.216G>C, XM_011530100.3:c.216G>C, XM_011530100.2:c.216G>C, XM_011530100.1:c.216G>C, XM_011530102.4:c.216G>C, XM_011530102.3:c.216G>C, XM_011530102.2:c.216G>C, XM_011530102.1:c.216G>C, XM_017028746.3:c.216G>C, XM_017028746.2:c.216G>C, XM_017028746.1:c.216G>C, XM_017028743.3:c.216G>C, XM_017028743.2:c.216G>C, XM_017028743.1:c.216G>C, XM_017028742.3:c.216G>C, XM_017028742.2:c.216G>C, XM_017028742.1:c.216G>C, XM_017028747.3:c.216G>C, XM_017028747.2:c.216G>C, XM_017028747.1:c.216G>C, XM_017028745.3:c.216G>C, NM_001284304.2:c.126G>C, NM_001284304.1:c.126G>C, NM_001284305.2:c.75G>C, NM_001284305.1:c.75G>C, NM_001284303.2:c.159G>C, NM_001284303.1:c.159G>C, XR_007067970.1:n.353G>C, XM_047441306.1:c.216G>C, NR_104292.1:n.829G>C, NM_001410803.1:c.216G>C, XR_007067971.1:n.353G>C, XM_047441307.1:c.216G>C, XM_047441308.1:c.216G>C, XM_047441309.1:c.216G>C, NP_055161.1:p.Trp72Cys, XP_011528403.1:p.Trp72Cys, XP_011528402.1:p.Trp72Cys, XP_011528404.1:p.Trp72Cys, XP_016884235.1:p.Trp72Cys, XP_016884232.1:p.Trp72Cys, XP_016884231.1:p.Trp72Cys, XP_016884236.1:p.Trp72Cys, XP_016884234.1:p.Trp72Cys, NP_001271233.1:p.Trp42Cys, NP_001271234.1:p.Trp25Cys, NP_001271232.1:p.Trp53Cys, XP_047297262.1:p.Trp72Cys, XP_047297263.1:p.Trp72Cys, XP_047297264.1:p.Trp72Cys, XP_047297265.1:p.Trp72Cys

              7.

              rs1478668403 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                22:46793604 (GRCh38)
                22:47189501 (GRCh37)
                Canonical SPDI:
                NC_000022.11:46793603:GGGG:GGG
                Gene:
                TBC1D22A (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGG=0./0 (ALFA)
                -=0.000004/1 (GnomAD_exomes)
                -=0.000007/1 (GnomAD)
                HGVS:
                NC_000022.11:g.46793607del, NC_000022.10:g.47189504del, NM_014346.5:c.226del, NM_014346.4:c.226del, NM_014346.3:c.226del, NM_014346.2:c.226del, XM_011530101.4:c.226del, XM_011530101.3:c.226del, XM_011530101.2:c.226del, XM_011530101.1:c.226del, XM_011530100.4:c.226del, XM_011530100.3:c.226del, XM_011530100.2:c.226del, XM_011530100.1:c.226del, XM_011530102.4:c.226del, XM_011530102.3:c.226del, XM_011530102.2:c.226del, XM_011530102.1:c.226del, XM_017028746.3:c.226del, XM_017028746.2:c.226del, XM_017028746.1:c.226del, XM_017028743.3:c.226del, XM_017028743.2:c.226del, XM_017028743.1:c.226del, XM_017028742.3:c.226del, XM_017028742.2:c.226del, XM_017028742.1:c.226del, XM_017028747.3:c.226del, XM_017028747.2:c.226del, XM_017028747.1:c.226del, XM_017028745.3:c.226del, NM_001284304.2:c.136del, NM_001284304.1:c.136del, NM_001284305.2:c.85del, NM_001284305.1:c.85del, NM_001284303.2:c.169del, NM_001284303.1:c.169del, XR_007067970.1:n.363del, XM_047441306.1:c.226del, NR_104292.1:n.839del, NM_001410803.1:c.226del, XR_007067971.1:n.363del, XM_047441307.1:c.226del, XM_047441308.1:c.226del, XM_047441309.1:c.226del, NP_055161.1:p.Glu76fs, XP_011528403.1:p.Glu76fs, XP_011528402.1:p.Glu76fs, XP_011528404.1:p.Glu76fs, XP_016884235.1:p.Glu76fs, XP_016884232.1:p.Glu76fs, XP_016884231.1:p.Glu76fs, XP_016884236.1:p.Glu76fs, XP_016884234.1:p.Glu76fs, NP_001271233.1:p.Glu46fs, NP_001271234.1:p.Glu29fs, NP_001271232.1:p.Glu57fs, XP_047297262.1:p.Glu76fs, XP_047297263.1:p.Glu76fs, XP_047297264.1:p.Glu76fs, XP_047297265.1:p.Glu76fs

                8.

                rs1474570128 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  22:46797538 (GRCh38)
                  22:47193435 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:46797537:C:G
                  Gene:
                  TBC1D22A (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.46797538C>G, NC_000022.10:g.47193435C>G, NM_014346.5:c.555C>G, NM_014346.4:c.555C>G, NM_014346.3:c.555C>G, NM_014346.2:c.555C>G, XM_011530101.4:c.555C>G, XM_011530101.3:c.555C>G, XM_011530101.2:c.555C>G, XM_011530101.1:c.555C>G, XM_011530100.4:c.555C>G, XM_011530100.3:c.555C>G, XM_011530100.2:c.555C>G, XM_011530100.1:c.555C>G, XM_011530102.4:c.555C>G, XM_011530102.3:c.555C>G, XM_011530102.2:c.555C>G, XM_011530102.1:c.555C>G, XM_017028746.3:c.555C>G, XM_017028746.2:c.555C>G, XM_017028746.1:c.555C>G, XM_017028743.3:c.555C>G, XM_017028743.2:c.555C>G, XM_017028743.1:c.555C>G, XM_017028742.3:c.555C>G, XM_017028742.2:c.555C>G, XM_017028742.1:c.555C>G, XM_017028747.3:c.555C>G, XM_017028747.2:c.555C>G, XM_017028747.1:c.555C>G, NM_001284304.2:c.465C>G, NM_001284304.1:c.465C>G, NM_001284305.2:c.414C>G, NM_001284305.1:c.414C>G, XR_007067970.1:n.692C>G, XM_047441306.1:c.555C>G, NR_104292.1:n.1168C>G, XR_007067971.1:n.692C>G, XM_047441307.1:c.555C>G, XM_047441308.1:c.555C>G

                  9.

                  rs1472937856 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    22:46793786 (GRCh38)
                    22:47189683 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:46793785:C:A,NC_000022.11:46793785:C:T
                    Gene:
                    TBC1D22A (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    T=0.000019/4 (GnomAD_exomes)
                    T=0.000142/2 (TOMMO)
                    T=0.001027/3 (KOREAN)
                    HGVS:
                    NC_000022.11:g.46793786C>A, NC_000022.11:g.46793786C>T, NC_000022.10:g.47189683C>A, NC_000022.10:g.47189683C>T, NM_014346.5:c.405C>A, NM_014346.5:c.405C>T, NM_014346.4:c.405C>A, NM_014346.4:c.405C>T, NM_014346.3:c.405C>A, NM_014346.3:c.405C>T, NM_014346.2:c.405C>A, NM_014346.2:c.405C>T, XM_011530101.4:c.405C>A, XM_011530101.4:c.405C>T, XM_011530101.3:c.405C>A, XM_011530101.3:c.405C>T, XM_011530101.2:c.405C>A, XM_011530101.2:c.405C>T, XM_011530101.1:c.405C>A, XM_011530101.1:c.405C>T, XM_011530100.4:c.405C>A, XM_011530100.4:c.405C>T, XM_011530100.3:c.405C>A, XM_011530100.3:c.405C>T, XM_011530100.2:c.405C>A, XM_011530100.2:c.405C>T, XM_011530100.1:c.405C>A, XM_011530100.1:c.405C>T, XM_011530102.4:c.405C>A, XM_011530102.4:c.405C>T, XM_011530102.3:c.405C>A, XM_011530102.3:c.405C>T, XM_011530102.2:c.405C>A, XM_011530102.2:c.405C>T, XM_011530102.1:c.405C>A, XM_011530102.1:c.405C>T, XM_017028746.3:c.405C>A, XM_017028746.3:c.405C>T, XM_017028746.2:c.405C>A, XM_017028746.2:c.405C>T, XM_017028746.1:c.405C>A, XM_017028746.1:c.405C>T, XM_017028743.3:c.405C>A, XM_017028743.3:c.405C>T, XM_017028743.2:c.405C>A, XM_017028743.2:c.405C>T, XM_017028743.1:c.405C>A, XM_017028743.1:c.405C>T, XM_017028742.3:c.405C>A, XM_017028742.3:c.405C>T, XM_017028742.2:c.405C>A, XM_017028742.2:c.405C>T, XM_017028742.1:c.405C>A, XM_017028742.1:c.405C>T, XM_017028747.3:c.405C>A, XM_017028747.3:c.405C>T, XM_017028747.2:c.405C>A, XM_017028747.2:c.405C>T, XM_017028747.1:c.405C>A, XM_017028747.1:c.405C>T, XM_017028745.3:c.405C>A, XM_017028745.3:c.405C>T, NM_001284304.2:c.315C>A, NM_001284304.2:c.315C>T, NM_001284304.1:c.315C>A, NM_001284304.1:c.315C>T, NM_001284305.2:c.264C>A, NM_001284305.2:c.264C>T, NM_001284305.1:c.264C>A, NM_001284305.1:c.264C>T, NM_001284303.2:c.348C>A, NM_001284303.2:c.348C>T, NM_001284303.1:c.348C>A, NM_001284303.1:c.348C>T, XR_007067970.1:n.542C>A, XR_007067970.1:n.542C>T, XM_047441306.1:c.405C>A, XM_047441306.1:c.405C>T, NR_104292.1:n.1018C>A, NR_104292.1:n.1018C>T, NM_001410803.1:c.405C>A, NM_001410803.1:c.405C>T, XR_007067971.1:n.542C>A, XR_007067971.1:n.542C>T, XM_047441307.1:c.405C>A, XM_047441307.1:c.405C>T, XM_047441308.1:c.405C>A, XM_047441308.1:c.405C>T, XM_047441309.1:c.405C>A, XM_047441309.1:c.405C>T, NP_055161.1:p.Ser135Arg, XP_011528403.1:p.Ser135Arg, XP_011528402.1:p.Ser135Arg, XP_011528404.1:p.Ser135Arg, XP_016884235.1:p.Ser135Arg, XP_016884232.1:p.Ser135Arg, XP_016884231.1:p.Ser135Arg, XP_016884236.1:p.Ser135Arg, XP_016884234.1:p.Ser135Arg, NP_001271233.1:p.Ser105Arg, NP_001271234.1:p.Ser88Arg, NP_001271232.1:p.Ser116Arg, XP_047297262.1:p.Ser135Arg, XP_047297263.1:p.Ser135Arg, XP_047297264.1:p.Ser135Arg, XP_047297265.1:p.Ser135Arg

                    10.

                    rs1471596412 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:46974344 (GRCh38)
                      22:47370240 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:46974343:G:A
                      Gene:
                      TBC1D22A (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000022.11:g.46974344G>A, NC_000022.10:g.47370240G>A, NM_014346.5:c.1070G>A, NM_014346.4:c.1070G>A, NM_014346.3:c.1070G>A, NM_014346.2:c.1070G>A, XM_011530101.4:c.1070G>A, XM_011530101.3:c.1070G>A, XM_011530101.2:c.1070G>A, XM_011530101.1:c.1070G>A, XM_011530100.4:c.1070G>A, XM_011530100.3:c.1070G>A, XM_011530100.2:c.1070G>A, XM_011530100.1:c.1070G>A, XM_017028746.3:c.1070G>A, XM_017028746.2:c.1070G>A, XM_017028746.1:c.1070G>A, XM_017028743.3:c.1070G>A, XM_017028743.2:c.1070G>A, XM_017028743.1:c.1070G>A, XM_017028742.3:c.1070G>A, XM_017028742.2:c.1070G>A, XM_017028742.1:c.1070G>A, XM_017028745.3:c.893G>A, NM_001284304.2:c.980G>A, NM_001284304.1:c.980G>A, NM_001284305.2:c.929G>A, NM_001284305.1:c.929G>A, NM_001284303.2:c.836G>A, NM_001284303.1:c.836G>A, XM_047441306.1:c.1070G>A, NM_001410803.1:c.893G>A, XM_047441307.1:c.1070G>A, NP_055161.1:p.Cys357Tyr, XP_011528403.1:p.Cys357Tyr, XP_011528402.1:p.Cys357Tyr, XP_016884235.1:p.Cys357Tyr, XP_016884232.1:p.Cys357Tyr, XP_016884231.1:p.Cys357Tyr, XP_016884234.1:p.Cys298Tyr, NP_001271233.1:p.Cys327Tyr, NP_001271234.1:p.Cys310Tyr, NP_001271232.1:p.Cys279Tyr, XP_047297262.1:p.Cys357Tyr, XP_047297263.1:p.Cys357Tyr

                      11.

                      rs1469207865 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        22:47037102 (GRCh38)
                        22:47432998 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:47037101:A:G
                        Gene:
                        TBC1D22A (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000008/2 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1468061528 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          22:46974351 (GRCh38)
                          22:47370247 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:46974350:C:A,NC_000022.11:46974350:C:G,NC_000022.11:46974350:C:T
                          Gene:
                          TBC1D22A (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000031/1 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000022.11:g.46974351C>A, NC_000022.11:g.46974351C>G, NC_000022.11:g.46974351C>T, NC_000022.10:g.47370247C>A, NC_000022.10:g.47370247C>G, NC_000022.10:g.47370247C>T, NM_014346.5:c.1077C>A, NM_014346.5:c.1077C>G, NM_014346.5:c.1077C>T, NM_014346.4:c.1077C>A, NM_014346.4:c.1077C>G, NM_014346.4:c.1077C>T, NM_014346.3:c.1077C>A, NM_014346.3:c.1077C>G, NM_014346.3:c.1077C>T, NM_014346.2:c.1077C>A, NM_014346.2:c.1077C>G, NM_014346.2:c.1077C>T, XM_011530101.4:c.1077C>A, XM_011530101.4:c.1077C>G, XM_011530101.4:c.1077C>T, XM_011530101.3:c.1077C>A, XM_011530101.3:c.1077C>G, XM_011530101.3:c.1077C>T, XM_011530101.2:c.1077C>A, XM_011530101.2:c.1077C>G, XM_011530101.2:c.1077C>T, XM_011530101.1:c.1077C>A, XM_011530101.1:c.1077C>G, XM_011530101.1:c.1077C>T, XM_011530100.4:c.1077C>A, XM_011530100.4:c.1077C>G, XM_011530100.4:c.1077C>T, XM_011530100.3:c.1077C>A, XM_011530100.3:c.1077C>G, XM_011530100.3:c.1077C>T, XM_011530100.2:c.1077C>A, XM_011530100.2:c.1077C>G, XM_011530100.2:c.1077C>T, XM_011530100.1:c.1077C>A, XM_011530100.1:c.1077C>G, XM_011530100.1:c.1077C>T, XM_017028746.3:c.1077C>A, XM_017028746.3:c.1077C>G, XM_017028746.3:c.1077C>T, XM_017028746.2:c.1077C>A, XM_017028746.2:c.1077C>G, XM_017028746.2:c.1077C>T, XM_017028746.1:c.1077C>A, XM_017028746.1:c.1077C>G, XM_017028746.1:c.1077C>T, XM_017028743.3:c.1077C>A, XM_017028743.3:c.1077C>G, XM_017028743.3:c.1077C>T, XM_017028743.2:c.1077C>A, XM_017028743.2:c.1077C>G, XM_017028743.2:c.1077C>T, XM_017028743.1:c.1077C>A, XM_017028743.1:c.1077C>G, XM_017028743.1:c.1077C>T, XM_017028742.3:c.1077C>A, XM_017028742.3:c.1077C>G, XM_017028742.3:c.1077C>T, XM_017028742.2:c.1077C>A, XM_017028742.2:c.1077C>G, XM_017028742.2:c.1077C>T, XM_017028742.1:c.1077C>A, XM_017028742.1:c.1077C>G, XM_017028742.1:c.1077C>T, XM_017028745.3:c.900C>A, XM_017028745.3:c.900C>G, XM_017028745.3:c.900C>T, NM_001284304.2:c.987C>A, NM_001284304.2:c.987C>G, NM_001284304.2:c.987C>T, NM_001284304.1:c.987C>A, NM_001284304.1:c.987C>G, NM_001284304.1:c.987C>T, NM_001284305.2:c.936C>A, NM_001284305.2:c.936C>G, NM_001284305.2:c.936C>T, NM_001284305.1:c.936C>A, NM_001284305.1:c.936C>G, NM_001284305.1:c.936C>T, NM_001284303.2:c.843C>A, NM_001284303.2:c.843C>G, NM_001284303.2:c.843C>T, NM_001284303.1:c.843C>A, NM_001284303.1:c.843C>G, NM_001284303.1:c.843C>T, XM_047441306.1:c.1077C>A, XM_047441306.1:c.1077C>G, XM_047441306.1:c.1077C>T, NM_001410803.1:c.900C>A, NM_001410803.1:c.900C>G, NM_001410803.1:c.900C>T, XM_047441307.1:c.1077C>A, XM_047441307.1:c.1077C>G, XM_047441307.1:c.1077C>T, NP_055161.1:p.Ile359Met, XP_011528403.1:p.Ile359Met, XP_011528402.1:p.Ile359Met, XP_016884235.1:p.Ile359Met, XP_016884232.1:p.Ile359Met, XP_016884231.1:p.Ile359Met, XP_016884234.1:p.Ile300Met, NP_001271233.1:p.Ile329Met, NP_001271234.1:p.Ile312Met, NP_001271232.1:p.Ile281Met, XP_047297262.1:p.Ile359Met, XP_047297263.1:p.Ile359Met

                          13.

                          rs1468010294 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            22:47111576 (GRCh38)
                            22:47507472 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:47111575:G:A
                            Gene:
                            TBC1D22A (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            HGVS:

                            14.

                            rs1467115886 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:46797459 (GRCh38)
                              22:47193356 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:46797458:C:T
                              Gene:
                              TBC1D22A (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000008/2 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000022.11:g.46797459C>T, NC_000022.10:g.47193356C>T, NM_014346.5:c.476C>T, NM_014346.4:c.476C>T, NM_014346.3:c.476C>T, NM_014346.2:c.476C>T, XM_011530101.4:c.476C>T, XM_011530101.3:c.476C>T, XM_011530101.2:c.476C>T, XM_011530101.1:c.476C>T, XM_011530100.4:c.476C>T, XM_011530100.3:c.476C>T, XM_011530100.2:c.476C>T, XM_011530100.1:c.476C>T, XM_011530102.4:c.476C>T, XM_011530102.3:c.476C>T, XM_011530102.2:c.476C>T, XM_011530102.1:c.476C>T, XM_017028746.3:c.476C>T, XM_017028746.2:c.476C>T, XM_017028746.1:c.476C>T, XM_017028743.3:c.476C>T, XM_017028743.2:c.476C>T, XM_017028743.1:c.476C>T, XM_017028742.3:c.476C>T, XM_017028742.2:c.476C>T, XM_017028742.1:c.476C>T, XM_017028747.3:c.476C>T, XM_017028747.2:c.476C>T, XM_017028747.1:c.476C>T, NM_001284304.2:c.386C>T, NM_001284304.1:c.386C>T, NM_001284305.2:c.335C>T, NM_001284305.1:c.335C>T, XR_007067970.1:n.613C>T, XM_047441306.1:c.476C>T, NR_104292.1:n.1089C>T, XR_007067971.1:n.613C>T, XM_047441307.1:c.476C>T, XM_047441308.1:c.476C>T, NP_055161.1:p.Ala159Val, XP_011528403.1:p.Ala159Val, XP_011528402.1:p.Ala159Val, XP_011528404.1:p.Ala159Val, XP_016884235.1:p.Ala159Val, XP_016884232.1:p.Ala159Val, XP_016884231.1:p.Ala159Val, XP_016884236.1:p.Ala159Val, NP_001271233.1:p.Ala129Val, NP_001271234.1:p.Ala112Val, XP_047297262.1:p.Ala159Val, XP_047297263.1:p.Ala159Val, XP_047297264.1:p.Ala159Val

                              15.

                              rs1464321405 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:46793838 (GRCh38)
                                22:47189735 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:46793837:G:A
                                Gene:
                                TBC1D22A (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000022.11:g.46793838G>A, NC_000022.10:g.47189735G>A, NM_014346.5:c.457G>A, NM_014346.4:c.457G>A, NM_014346.3:c.457G>A, NM_014346.2:c.457G>A, XM_011530101.4:c.457G>A, XM_011530101.3:c.457G>A, XM_011530101.2:c.457G>A, XM_011530101.1:c.457G>A, XM_011530100.4:c.457G>A, XM_011530100.3:c.457G>A, XM_011530100.2:c.457G>A, XM_011530100.1:c.457G>A, XM_011530102.4:c.457G>A, XM_011530102.3:c.457G>A, XM_011530102.2:c.457G>A, XM_011530102.1:c.457G>A, XM_017028746.3:c.457G>A, XM_017028746.2:c.457G>A, XM_017028746.1:c.457G>A, XM_017028743.3:c.457G>A, XM_017028743.2:c.457G>A, XM_017028743.1:c.457G>A, XM_017028742.3:c.457G>A, XM_017028742.2:c.457G>A, XM_017028742.1:c.457G>A, XM_017028747.3:c.457G>A, XM_017028747.2:c.457G>A, XM_017028747.1:c.457G>A, XM_017028745.3:c.457G>A, NM_001284304.2:c.367G>A, NM_001284304.1:c.367G>A, NM_001284305.2:c.316G>A, NM_001284305.1:c.316G>A, NM_001284303.2:c.400G>A, NM_001284303.1:c.400G>A, XR_007067970.1:n.594G>A, XM_047441306.1:c.457G>A, NR_104292.1:n.1070G>A, NM_001410803.1:c.457G>A, XR_007067971.1:n.594G>A, XM_047441307.1:c.457G>A, XM_047441308.1:c.457G>A, XM_047441309.1:c.457G>A, NP_055161.1:p.Ala153Thr, XP_011528403.1:p.Ala153Thr, XP_011528402.1:p.Ala153Thr, XP_011528404.1:p.Ala153Thr, XP_016884235.1:p.Ala153Thr, XP_016884232.1:p.Ala153Thr, XP_016884231.1:p.Ala153Thr, XP_016884236.1:p.Ala153Thr, XP_016884234.1:p.Ala153Thr, NP_001271233.1:p.Ala123Thr, NP_001271234.1:p.Ala106Thr, NP_001271232.1:p.Ala134Thr, XP_047297262.1:p.Ala153Thr, XP_047297263.1:p.Ala153Thr, XP_047297264.1:p.Ala153Thr, XP_047297265.1:p.Ala153Thr

                                16.

                                rs1457958074 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  22:47111556 (GRCh38)
                                  22:47507452 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:47111555:T:C
                                  Gene:
                                  TBC1D22A (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000022.11:g.47111556T>C, NC_000022.10:g.47507452T>C, NM_014346.5:c.1378T>C, NM_014346.4:c.1378T>C, NM_014346.3:c.1378T>C, NM_014346.2:c.1378T>C, XM_011530100.4:c.*44T>C, XM_011530100.3:c.*44T>C, XM_011530100.2:c.*44T>C, XM_011530100.1:c.*44T>C, XM_011530102.4:c.*51T>C, XM_011530102.3:c.*51T>C, XM_011530102.2:c.*51T>C, XM_011530102.1:c.*51T>C, XM_017028743.3:c.1378T>C, XM_017028743.2:c.1378T>C, XM_017028743.1:c.1378T>C, XM_017028742.3:c.1474T>C, XM_017028742.2:c.1474T>C, XM_017028742.1:c.1474T>C, XM_017028745.3:c.1201T>C, NM_001284304.2:c.1288T>C, NM_001284304.1:c.1288T>C, NM_001284305.2:c.1237T>C, NM_001284305.1:c.1237T>C, NM_001284303.2:c.1144T>C, NM_001284303.1:c.1144T>C, XM_047441306.1:c.1474T>C, NR_104292.1:n.1994T>C, NM_001410803.1:c.1201T>C, XM_047441307.1:c.*44T>C, NP_055161.1:p.Phe460Leu, XP_016884232.1:p.Phe460Leu, XP_016884231.1:p.Phe492Leu, XP_016884234.1:p.Phe401Leu, NP_001271233.1:p.Phe430Leu, NP_001271234.1:p.Phe413Leu, NP_001271232.1:p.Phe382Leu, XP_047297262.1:p.Phe492Leu

                                  17.

                                  rs1452789652 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:46793647 (GRCh38)
                                    22:47189544 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:46793646:T:C
                                    Gene:
                                    TBC1D22A (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.46793647T>C, NC_000022.10:g.47189544T>C, NM_014346.5:c.266T>C, NM_014346.4:c.266T>C, NM_014346.3:c.266T>C, NM_014346.2:c.266T>C, XM_011530101.4:c.266T>C, XM_011530101.3:c.266T>C, XM_011530101.2:c.266T>C, XM_011530101.1:c.266T>C, XM_011530100.4:c.266T>C, XM_011530100.3:c.266T>C, XM_011530100.2:c.266T>C, XM_011530100.1:c.266T>C, XM_011530102.4:c.266T>C, XM_011530102.3:c.266T>C, XM_011530102.2:c.266T>C, XM_011530102.1:c.266T>C, XM_017028746.3:c.266T>C, XM_017028746.2:c.266T>C, XM_017028746.1:c.266T>C, XM_017028743.3:c.266T>C, XM_017028743.2:c.266T>C, XM_017028743.1:c.266T>C, XM_017028742.3:c.266T>C, XM_017028742.2:c.266T>C, XM_017028742.1:c.266T>C, XM_017028747.3:c.266T>C, XM_017028747.2:c.266T>C, XM_017028747.1:c.266T>C, XM_017028745.3:c.266T>C, NM_001284304.2:c.176T>C, NM_001284304.1:c.176T>C, NM_001284305.2:c.125T>C, NM_001284305.1:c.125T>C, NM_001284303.2:c.209T>C, NM_001284303.1:c.209T>C, XR_007067970.1:n.403T>C, XM_047441306.1:c.266T>C, NR_104292.1:n.879T>C, NM_001410803.1:c.266T>C, XR_007067971.1:n.403T>C, XM_047441307.1:c.266T>C, XM_047441308.1:c.266T>C, XM_047441309.1:c.266T>C, NP_055161.1:p.Leu89Pro, XP_011528403.1:p.Leu89Pro, XP_011528402.1:p.Leu89Pro, XP_011528404.1:p.Leu89Pro, XP_016884235.1:p.Leu89Pro, XP_016884232.1:p.Leu89Pro, XP_016884231.1:p.Leu89Pro, XP_016884236.1:p.Leu89Pro, XP_016884234.1:p.Leu89Pro, NP_001271233.1:p.Leu59Pro, NP_001271234.1:p.Leu42Pro, NP_001271232.1:p.Leu70Pro, XP_047297262.1:p.Leu89Pro, XP_047297263.1:p.Leu89Pro, XP_047297264.1:p.Leu89Pro, XP_047297265.1:p.Leu89Pro

                                    18.

                                    rs1450202904 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      22:47111568 (GRCh38)
                                      22:47507464 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:47111567:T:A,NC_000022.11:47111567:T:C
                                      Gene:
                                      TBC1D22A (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000028/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.47111568T>A, NC_000022.11:g.47111568T>C, NC_000022.10:g.47507464T>A, NC_000022.10:g.47507464T>C, NM_014346.5:c.1390T>A, NM_014346.5:c.1390T>C, NM_014346.4:c.1390T>A, NM_014346.4:c.1390T>C, NM_014346.3:c.1390T>A, NM_014346.3:c.1390T>C, NM_014346.2:c.1390T>A, NM_014346.2:c.1390T>C, XM_011530100.4:c.*56T>A, XM_011530100.4:c.*56T>C, XM_011530100.3:c.*56T>A, XM_011530100.3:c.*56T>C, XM_011530100.2:c.*56T>A, XM_011530100.2:c.*56T>C, XM_011530100.1:c.*56T>A, XM_011530100.1:c.*56T>C, XM_011530102.4:c.*63T>A, XM_011530102.4:c.*63T>C, XM_011530102.3:c.*63T>A, XM_011530102.3:c.*63T>C, XM_011530102.2:c.*63T>A, XM_011530102.2:c.*63T>C, XM_011530102.1:c.*63T>A, XM_011530102.1:c.*63T>C, XM_017028743.3:c.1390T>A, XM_017028743.3:c.1390T>C, XM_017028743.2:c.1390T>A, XM_017028743.2:c.1390T>C, XM_017028743.1:c.1390T>A, XM_017028743.1:c.1390T>C, XM_017028742.3:c.1486T>A, XM_017028742.3:c.1486T>C, XM_017028742.2:c.1486T>A, XM_017028742.2:c.1486T>C, XM_017028742.1:c.1486T>A, XM_017028742.1:c.1486T>C, XM_017028745.3:c.1213T>A, XM_017028745.3:c.1213T>C, NM_001284304.2:c.1300T>A, NM_001284304.2:c.1300T>C, NM_001284304.1:c.1300T>A, NM_001284304.1:c.1300T>C, NM_001284305.2:c.1249T>A, NM_001284305.2:c.1249T>C, NM_001284305.1:c.1249T>A, NM_001284305.1:c.1249T>C, NM_001284303.2:c.1156T>A, NM_001284303.2:c.1156T>C, NM_001284303.1:c.1156T>A, NM_001284303.1:c.1156T>C, XM_047441306.1:c.1486T>A, XM_047441306.1:c.1486T>C, NR_104292.1:n.2006T>A, NR_104292.1:n.2006T>C, NM_001410803.1:c.1213T>A, NM_001410803.1:c.1213T>C, XM_047441307.1:c.*56T>A, XM_047441307.1:c.*56T>C, NP_055161.1:p.Trp464Arg, NP_055161.1:p.Trp464Arg, XP_016884232.1:p.Trp464Arg, XP_016884232.1:p.Trp464Arg, XP_016884231.1:p.Trp496Arg, XP_016884231.1:p.Trp496Arg, XP_016884234.1:p.Trp405Arg, XP_016884234.1:p.Trp405Arg, NP_001271233.1:p.Trp434Arg, NP_001271233.1:p.Trp434Arg, NP_001271234.1:p.Trp417Arg, NP_001271234.1:p.Trp417Arg, NP_001271232.1:p.Trp386Arg, NP_001271232.1:p.Trp386Arg, XP_047297262.1:p.Trp496Arg, XP_047297262.1:p.Trp496Arg

                                      19.

                                      rs1447640878 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        22:46793539 (GRCh38)
                                        22:47189436 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:46793538:T:A
                                        Gene:
                                        TBC1D22A (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000047/1 (ALFA)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.46793539T>A, NC_000022.10:g.47189436T>A, NM_014346.5:c.158T>A, NM_014346.4:c.158T>A, NM_014346.3:c.158T>A, NM_014346.2:c.158T>A, XM_011530101.4:c.158T>A, XM_011530101.3:c.158T>A, XM_011530101.2:c.158T>A, XM_011530101.1:c.158T>A, XM_011530100.4:c.158T>A, XM_011530100.3:c.158T>A, XM_011530100.2:c.158T>A, XM_011530100.1:c.158T>A, XM_011530102.4:c.158T>A, XM_011530102.3:c.158T>A, XM_011530102.2:c.158T>A, XM_011530102.1:c.158T>A, XM_017028746.3:c.158T>A, XM_017028746.2:c.158T>A, XM_017028746.1:c.158T>A, XM_017028743.3:c.158T>A, XM_017028743.2:c.158T>A, XM_017028743.1:c.158T>A, XM_017028742.3:c.158T>A, XM_017028742.2:c.158T>A, XM_017028742.1:c.158T>A, XM_017028747.3:c.158T>A, XM_017028747.2:c.158T>A, XM_017028747.1:c.158T>A, XM_017028745.3:c.158T>A, NM_001284304.2:c.68T>A, NM_001284304.1:c.68T>A, NM_001284305.2:c.17T>A, NM_001284305.1:c.17T>A, NM_001284303.2:c.101T>A, NM_001284303.1:c.101T>A, XR_007067970.1:n.295T>A, XM_047441306.1:c.158T>A, NR_104292.1:n.771T>A, NM_001410803.1:c.158T>A, XR_007067971.1:n.295T>A, XM_047441307.1:c.158T>A, XM_047441308.1:c.158T>A, XM_047441309.1:c.158T>A, NP_055161.1:p.Val53Glu, XP_011528403.1:p.Val53Glu, XP_011528402.1:p.Val53Glu, XP_011528404.1:p.Val53Glu, XP_016884235.1:p.Val53Glu, XP_016884232.1:p.Val53Glu, XP_016884231.1:p.Val53Glu, XP_016884236.1:p.Val53Glu, XP_016884234.1:p.Val53Glu, NP_001271233.1:p.Val23Glu, NP_001271234.1:p.Val6Glu, NP_001271232.1:p.Val34Glu, XP_047297262.1:p.Val53Glu, XP_047297263.1:p.Val53Glu, XP_047297264.1:p.Val53Glu, XP_047297265.1:p.Val53Glu

                                        20.

                                        rs1446257680 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          22:46974377 (GRCh38)
                                          22:47370273 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:46974376:G:A
                                          Gene:
                                          TBC1D22A (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000022.11:g.46974377G>A, NC_000022.10:g.47370273G>A, NM_014346.5:c.1103G>A, NM_014346.4:c.1103G>A, NM_014346.3:c.1103G>A, NM_014346.2:c.1103G>A, XM_011530101.4:c.1103G>A, XM_011530101.3:c.1103G>A, XM_011530101.2:c.1103G>A, XM_011530101.1:c.1103G>A, XM_011530100.4:c.1103G>A, XM_011530100.3:c.1103G>A, XM_011530100.2:c.1103G>A, XM_011530100.1:c.1103G>A, XM_017028746.3:c.1103G>A, XM_017028746.2:c.1103G>A, XM_017028746.1:c.1103G>A, XM_017028743.3:c.1103G>A, XM_017028743.2:c.1103G>A, XM_017028743.1:c.1103G>A, XM_017028742.3:c.1103G>A, XM_017028742.2:c.1103G>A, XM_017028742.1:c.1103G>A, XM_017028745.3:c.926G>A, NM_001284304.2:c.1013G>A, NM_001284304.1:c.1013G>A, NM_001284305.2:c.962G>A, NM_001284305.1:c.962G>A, NM_001284303.2:c.869G>A, NM_001284303.1:c.869G>A, XM_047441306.1:c.1103G>A, NM_001410803.1:c.926G>A, XM_047441307.1:c.1103G>A, NP_055161.1:p.Ser368Asn, XP_011528403.1:p.Ser368Asn, XP_011528402.1:p.Ser368Asn, XP_016884235.1:p.Ser368Asn, XP_016884232.1:p.Ser368Asn, XP_016884231.1:p.Ser368Asn, XP_016884234.1:p.Ser309Asn, NP_001271233.1:p.Ser338Asn, NP_001271234.1:p.Ser321Asn, NP_001271232.1:p.Ser290Asn, XP_047297262.1:p.Ser368Asn, XP_047297263.1:p.Ser368Asn

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