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Links from Protein

Items: 1 to 20 of 459

1.

rs1488336065 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:15716993 (GRCh38)
    17:15620307 (GRCh37)
    Canonical SPDI:
    NC_000017.11:15716992:A:G
    Gene:
    ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:

    2.

    rs1487960694 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:15716082 (GRCh38)
      17:15619396 (GRCh37)
      Canonical SPDI:
      NC_000017.11:15716081:A:G
      Gene:
      ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.15716082A>G, NC_000017.10:g.15619396A>G, NM_020652.3:c.358A>G, NM_020652.2:c.358A>G, NM_001288645.2:c.22A>G, NM_001288645.1:c.22A>G, NM_001288646.2:c.22A>G, NM_001288646.1:c.22A>G, NM_001130842.2:c.358A>G, NM_001130842.1:c.358A>G, NM_001288647.2:c.22A>G, NM_001288647.1:c.22A>G, NM_001288642.2:c.487A>G, NM_001288642.1:c.487A>G, NM_001288648.2:c.22A>G, NM_001288648.1:c.22A>G, NM_001288643.2:c.328A>G, NM_001288643.1:c.328A>G, NM_001288644.2:c.22A>G, NM_001288644.1:c.265A>G, NM_001288649.2:c.22A>G, NM_001288649.1:c.22A>G, NM_001369438.1:c.22A>G, NM_001369436.1:c.22A>G, NM_001369440.1:c.205A>G, NM_001369437.1:c.22A>G, NR_171000.1:n.666A>G, NP_065703.1:p.Lys120Glu, NP_001275574.1:p.Lys8Glu, NP_001275575.1:p.Lys8Glu, NP_001124314.1:p.Lys120Glu, NP_001275576.1:p.Lys8Glu, NP_001275571.1:p.Lys163Glu, NP_001275577.1:p.Lys8Glu, NP_001275572.1:p.Lys110Glu, NP_001275573.2:p.Lys8Glu, NP_001275578.1:p.Lys8Glu, NP_001356367.1:p.Lys8Glu, NP_001356365.1:p.Lys8Glu, NP_001356369.1:p.Lys69Glu, NP_001356366.1:p.Lys8Glu

      3.

      rs1487475471 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:15716425 (GRCh38)
        17:15619739 (GRCh37)
        Canonical SPDI:
        NC_000017.11:15716424:A:G
        Gene:
        ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.15716425A>G, NC_000017.10:g.15619739A>G, NM_020652.3:c.701A>G, NM_020652.2:c.701A>G, NM_001288645.2:c.365A>G, NM_001288645.1:c.365A>G, NM_001288646.2:c.365A>G, NM_001288646.1:c.365A>G, NM_001130842.2:c.701A>G, NM_001130842.1:c.701A>G, NM_001288647.2:c.365A>G, NM_001288647.1:c.365A>G, NM_001288642.2:c.830A>G, NM_001288642.1:c.830A>G, NM_001288648.2:c.365A>G, NM_001288648.1:c.365A>G, NM_001288643.2:c.671A>G, NM_001288643.1:c.671A>G, NM_001288644.2:c.365A>G, NM_001288644.1:c.608A>G, NM_001288649.2:c.365A>G, NM_001288649.1:c.365A>G, NM_001369438.1:c.365A>G, NM_001369436.1:c.365A>G, NM_001369440.1:c.548A>G, NM_001369437.1:c.365A>G, NR_171000.1:n.1009A>G, NP_065703.1:p.Gln234Arg, NP_001275574.1:p.Gln122Arg, NP_001275575.1:p.Gln122Arg, NP_001124314.1:p.Gln234Arg, NP_001275576.1:p.Gln122Arg, NP_001275571.1:p.Gln277Arg, NP_001275577.1:p.Gln122Arg, NP_001275572.1:p.Gln224Arg, NP_001275573.2:p.Gln122Arg, NP_001275578.1:p.Gln122Arg, NP_001356367.1:p.Gln122Arg, NP_001356365.1:p.Gln122Arg, NP_001356369.1:p.Gln183Arg, NP_001356366.1:p.Gln122Arg

        4.

        rs1486999916 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          17:15716251 (GRCh38)
          17:15619565 (GRCh37)
          Canonical SPDI:
          NC_000017.11:15716250:T:C,NC_000017.11:15716250:T:G
          Gene:
          ZNF286A (Varview), ZNF286A-TBC1D26 (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=0.000008/2 (TOPMED)
          G=0.000071/2 (TOMMO)
          HGVS:
          NC_000017.11:g.15716251T>C, NC_000017.11:g.15716251T>G, NC_000017.10:g.15619565T>C, NC_000017.10:g.15619565T>G, NM_020652.3:c.527T>C, NM_020652.3:c.527T>G, NM_020652.2:c.527T>C, NM_020652.2:c.527T>G, NM_001288645.2:c.191T>C, NM_001288645.2:c.191T>G, NM_001288645.1:c.191T>C, NM_001288645.1:c.191T>G, NM_001288646.2:c.191T>C, NM_001288646.2:c.191T>G, NM_001288646.1:c.191T>C, NM_001288646.1:c.191T>G, NM_001130842.2:c.527T>C, NM_001130842.2:c.527T>G, NM_001130842.1:c.527T>C, NM_001130842.1:c.527T>G, NM_001288647.2:c.191T>C, NM_001288647.2:c.191T>G, NM_001288647.1:c.191T>C, NM_001288647.1:c.191T>G, NM_001288642.2:c.656T>C, NM_001288642.2:c.656T>G, NM_001288642.1:c.656T>C, NM_001288642.1:c.656T>G, NM_001288648.2:c.191T>C, NM_001288648.2:c.191T>G, NM_001288648.1:c.191T>C, NM_001288648.1:c.191T>G, NM_001288643.2:c.497T>C, NM_001288643.2:c.497T>G, NM_001288643.1:c.497T>C, NM_001288643.1:c.497T>G, NM_001288644.2:c.191T>C, NM_001288644.2:c.191T>G, NM_001288644.1:c.434T>C, NM_001288644.1:c.434T>G, NM_001288649.2:c.191T>C, NM_001288649.2:c.191T>G, NM_001288649.1:c.191T>C, NM_001288649.1:c.191T>G, NM_001369438.1:c.191T>C, NM_001369438.1:c.191T>G, NM_001369436.1:c.191T>C, NM_001369436.1:c.191T>G, NM_001369440.1:c.374T>C, NM_001369440.1:c.374T>G, NM_001369437.1:c.191T>C, NM_001369437.1:c.191T>G, NR_171000.1:n.835T>C, NR_171000.1:n.835T>G, NP_065703.1:p.Met176Thr, NP_065703.1:p.Met176Arg, NP_001275574.1:p.Met64Thr, NP_001275574.1:p.Met64Arg, NP_001275575.1:p.Met64Thr, NP_001275575.1:p.Met64Arg, NP_001124314.1:p.Met176Thr, NP_001124314.1:p.Met176Arg, NP_001275576.1:p.Met64Thr, NP_001275576.1:p.Met64Arg, NP_001275571.1:p.Met219Thr, NP_001275571.1:p.Met219Arg, NP_001275577.1:p.Met64Thr, NP_001275577.1:p.Met64Arg, NP_001275572.1:p.Met166Thr, NP_001275572.1:p.Met166Arg, NP_001275573.2:p.Met64Thr, NP_001275573.2:p.Met64Arg, NP_001275578.1:p.Met64Thr, NP_001275578.1:p.Met64Arg, NP_001356367.1:p.Met64Thr, NP_001356367.1:p.Met64Arg, NP_001356365.1:p.Met64Thr, NP_001356365.1:p.Met64Arg, NP_001356369.1:p.Met125Thr, NP_001356369.1:p.Met125Arg, NP_001356366.1:p.Met64Thr, NP_001356366.1:p.Met64Arg

          5.

          rs1485430509 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            17:15701205 (GRCh38)
            17:15604519 (GRCh37)
            Canonical SPDI:
            NC_000017.11:15701204:G:A,NC_000017.11:15701204:G:T
            Gene:
            ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
            Functional Consequence:
            coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000017.11:g.15701205G>A, NC_000017.11:g.15701205G>T, NC_000017.10:g.15604519G>A, NC_000017.10:g.15604519G>T, NM_020652.3:c.91G>A, NM_020652.3:c.91G>T, NM_020652.2:c.91G>A, NM_020652.2:c.91G>T, NM_001288645.2:c.-305G>A, NM_001288645.2:c.-305G>T, NM_001288645.1:c.-305G>A, NM_001288645.1:c.-305G>T, NM_001288646.2:c.-305G>A, NM_001288646.2:c.-305G>T, NM_001288646.1:c.-305G>A, NM_001288646.1:c.-305G>T, NM_001130842.2:c.91G>A, NM_001130842.2:c.91G>T, NM_001130842.1:c.91G>A, NM_001130842.1:c.91G>T, NM_001288647.2:c.-190G>A, NM_001288647.2:c.-190G>T, NM_001288647.1:c.-190G>A, NM_001288647.1:c.-190G>T, NM_001288642.2:c.220G>A, NM_001288642.2:c.220G>T, NM_001288642.1:c.220G>A, NM_001288642.1:c.220G>T, NM_001288648.2:c.-305G>A, NM_001288648.2:c.-305G>T, NM_001288648.1:c.-305G>A, NM_001288648.1:c.-305G>T, NM_001288643.2:c.61G>A, NM_001288643.2:c.61G>T, NM_001288643.1:c.61G>A, NM_001288643.1:c.61G>T, NM_001288644.2:c.-131G>A, NM_001288644.2:c.-131G>T, NM_001288644.1:c.113G>A, NM_001288644.1:c.113G>T, NM_001369438.1:c.-305G>A, NM_001369438.1:c.-305G>T, NM_001369436.1:c.-305G>A, NM_001369436.1:c.-305G>T, NM_001369440.1:c.-63G>A, NM_001369440.1:c.-63G>T, NM_001369437.1:c.-38G>A, NM_001369437.1:c.-38G>T, NR_171000.1:n.399G>A, NR_171000.1:n.399G>T, NP_065703.1:p.Glu31Lys, NP_065703.1:p.Glu31Ter, NP_001124314.1:p.Glu31Lys, NP_001124314.1:p.Glu31Ter, NP_001275571.1:p.Glu74Lys, NP_001275571.1:p.Glu74Ter, NP_001275572.1:p.Glu21Lys, NP_001275572.1:p.Glu21Ter

            6.

            rs1483689464 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              17:15717222 (GRCh38)
              17:15620536 (GRCh37)
              Canonical SPDI:
              NC_000017.11:15717221:GGG:GG
              Gene:
              ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.15717224del, NC_000017.10:g.15620538del, NM_020652.3:c.1500del, NM_020652.2:c.1500del, NM_001288645.2:c.1164del, NM_001288645.1:c.1164del, NM_001288646.2:c.1164del, NM_001288646.1:c.1164del, NM_001130842.2:c.1500del, NM_001130842.1:c.1500del, NM_001288647.2:c.1164del, NM_001288647.1:c.1164del, NM_001288642.2:c.1629del, NM_001288642.1:c.1629del, NM_001288648.2:c.1164del, NM_001288648.1:c.1164del, NM_001288643.2:c.1470del, NM_001288643.1:c.1470del, NM_001288644.2:c.1164del, NM_001288644.1:c.1407del, NM_001288649.2:c.1164del, NM_001288649.1:c.1164del, NM_001369438.1:c.1164del, NM_001369436.1:c.1164del, NM_001369440.1:c.1347del, NM_001369437.1:c.1164del, NR_171000.1:n.1808del, NP_065703.1:p.Ser502fs, NP_001275574.1:p.Ser390fs, NP_001275575.1:p.Ser390fs, NP_001124314.1:p.Ser502fs, NP_001275576.1:p.Ser390fs, NP_001275571.1:p.Ser545fs, NP_001275577.1:p.Ser390fs, NP_001275572.1:p.Ser492fs, NP_001275573.2:p.Ser390fs, NP_001275578.1:p.Ser390fs, NP_001356367.1:p.Ser390fs, NP_001356365.1:p.Ser390fs, NP_001356369.1:p.Ser451fs, NP_001356366.1:p.Ser390fs

              7.

              rs1482241650 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:15716768 (GRCh38)
                17:15620082 (GRCh37)
                Canonical SPDI:
                NC_000017.11:15716767:T:C
                Gene:
                ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1479092999 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  17:15716193 (GRCh38)
                  17:15619507 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:15716192:G:
                  Gene:
                  ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.15716193del, NC_000017.10:g.15619507del, NM_020652.3:c.469del, NM_020652.2:c.469del, NM_001288645.2:c.133del, NM_001288645.1:c.133del, NM_001288646.2:c.133del, NM_001288646.1:c.133del, NM_001130842.2:c.469del, NM_001130842.1:c.469del, NM_001288647.2:c.133del, NM_001288647.1:c.133del, NM_001288642.2:c.598del, NM_001288642.1:c.598del, NM_001288648.2:c.133del, NM_001288648.1:c.133del, NM_001288643.2:c.439del, NM_001288643.1:c.439del, NM_001288644.2:c.133del, NM_001288644.1:c.376del, NM_001288649.2:c.133del, NM_001288649.1:c.133del, NM_001369438.1:c.133del, NM_001369436.1:c.133del, NM_001369440.1:c.316del, NM_001369437.1:c.133del, NR_171000.1:n.777del, NP_065703.1:p.Glu157fs, NP_001275574.1:p.Glu45fs, NP_001275575.1:p.Glu45fs, NP_001124314.1:p.Glu157fs, NP_001275576.1:p.Glu45fs, NP_001275571.1:p.Glu200fs, NP_001275577.1:p.Glu45fs, NP_001275572.1:p.Glu147fs, NP_001275573.2:p.Glu45fs, NP_001275578.1:p.Glu45fs, NP_001356367.1:p.Glu45fs, NP_001356365.1:p.Glu45fs, NP_001356369.1:p.Glu106fs, NP_001356366.1:p.Glu45fs

                  9.

                  rs1478582804 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    17:15716437 (GRCh38)
                    17:15619751 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:15716436:A:C
                    Gene:
                    ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000017.11:g.15716437A>C, NC_000017.10:g.15619751A>C, NM_020652.3:c.713A>C, NM_020652.2:c.713A>C, NM_001288645.2:c.377A>C, NM_001288645.1:c.377A>C, NM_001288646.2:c.377A>C, NM_001288646.1:c.377A>C, NM_001130842.2:c.713A>C, NM_001130842.1:c.713A>C, NM_001288647.2:c.377A>C, NM_001288647.1:c.377A>C, NM_001288642.2:c.842A>C, NM_001288642.1:c.842A>C, NM_001288648.2:c.377A>C, NM_001288648.1:c.377A>C, NM_001288643.2:c.683A>C, NM_001288643.1:c.683A>C, NM_001288644.2:c.377A>C, NM_001288644.1:c.620A>C, NM_001288649.2:c.377A>C, NM_001288649.1:c.377A>C, NM_001369438.1:c.377A>C, NM_001369436.1:c.377A>C, NM_001369440.1:c.560A>C, NM_001369437.1:c.377A>C, NR_171000.1:n.1021A>C, NP_065703.1:p.Lys238Thr, NP_001275574.1:p.Lys126Thr, NP_001275575.1:p.Lys126Thr, NP_001124314.1:p.Lys238Thr, NP_001275576.1:p.Lys126Thr, NP_001275571.1:p.Lys281Thr, NP_001275577.1:p.Lys126Thr, NP_001275572.1:p.Lys228Thr, NP_001275573.2:p.Lys126Thr, NP_001275578.1:p.Lys126Thr, NP_001356367.1:p.Lys126Thr, NP_001356365.1:p.Lys126Thr, NP_001356369.1:p.Lys187Thr, NP_001356366.1:p.Lys126Thr

                    10.

                    rs1478303519 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      17:15716499 (GRCh38)
                      17:15619813 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:15716498:A:G,NC_000017.11:15716498:A:T
                      Gene:
                      ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000017.11:g.15716499A>G, NC_000017.11:g.15716499A>T, NC_000017.10:g.15619813A>G, NC_000017.10:g.15619813A>T, NM_020652.3:c.775A>G, NM_020652.3:c.775A>T, NM_020652.2:c.775A>G, NM_020652.2:c.775A>T, NM_001288645.2:c.439A>G, NM_001288645.2:c.439A>T, NM_001288645.1:c.439A>G, NM_001288645.1:c.439A>T, NM_001288646.2:c.439A>G, NM_001288646.2:c.439A>T, NM_001288646.1:c.439A>G, NM_001288646.1:c.439A>T, NM_001130842.2:c.775A>G, NM_001130842.2:c.775A>T, NM_001130842.1:c.775A>G, NM_001130842.1:c.775A>T, NM_001288647.2:c.439A>G, NM_001288647.2:c.439A>T, NM_001288647.1:c.439A>G, NM_001288647.1:c.439A>T, NM_001288642.2:c.904A>G, NM_001288642.2:c.904A>T, NM_001288642.1:c.904A>G, NM_001288642.1:c.904A>T, NM_001288648.2:c.439A>G, NM_001288648.2:c.439A>T, NM_001288648.1:c.439A>G, NM_001288648.1:c.439A>T, NM_001288643.2:c.745A>G, NM_001288643.2:c.745A>T, NM_001288643.1:c.745A>G, NM_001288643.1:c.745A>T, NM_001288644.2:c.439A>G, NM_001288644.2:c.439A>T, NM_001288644.1:c.682A>G, NM_001288644.1:c.682A>T, NM_001288649.2:c.439A>G, NM_001288649.2:c.439A>T, NM_001288649.1:c.439A>G, NM_001288649.1:c.439A>T, NM_001369438.1:c.439A>G, NM_001369438.1:c.439A>T, NM_001369436.1:c.439A>G, NM_001369436.1:c.439A>T, NM_001369440.1:c.622A>G, NM_001369440.1:c.622A>T, NM_001369437.1:c.439A>G, NM_001369437.1:c.439A>T, NR_171000.1:n.1083A>G, NR_171000.1:n.1083A>T, NP_065703.1:p.Ile259Val, NP_065703.1:p.Ile259Phe, NP_001275574.1:p.Ile147Val, NP_001275574.1:p.Ile147Phe, NP_001275575.1:p.Ile147Val, NP_001275575.1:p.Ile147Phe, NP_001124314.1:p.Ile259Val, NP_001124314.1:p.Ile259Phe, NP_001275576.1:p.Ile147Val, NP_001275576.1:p.Ile147Phe, NP_001275571.1:p.Ile302Val, NP_001275571.1:p.Ile302Phe, NP_001275577.1:p.Ile147Val, NP_001275577.1:p.Ile147Phe, NP_001275572.1:p.Ile249Val, NP_001275572.1:p.Ile249Phe, NP_001275573.2:p.Ile147Val, NP_001275573.2:p.Ile147Phe, NP_001275578.1:p.Ile147Val, NP_001275578.1:p.Ile147Phe, NP_001356367.1:p.Ile147Val, NP_001356367.1:p.Ile147Phe, NP_001356365.1:p.Ile147Val, NP_001356365.1:p.Ile147Phe, NP_001356369.1:p.Ile208Val, NP_001356369.1:p.Ile208Phe, NP_001356366.1:p.Ile147Val, NP_001356366.1:p.Ile147Phe

                      11.

                      rs1477457268 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:15716568 (GRCh38)
                        17:15619882 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:15716567:C:A
                        Gene:
                        ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.15716568C>A, NC_000017.10:g.15619882C>A, NM_020652.3:c.844C>A, NM_020652.2:c.844C>A, NM_001288645.2:c.508C>A, NM_001288645.1:c.508C>A, NM_001288646.2:c.508C>A, NM_001288646.1:c.508C>A, NM_001130842.2:c.844C>A, NM_001130842.1:c.844C>A, NM_001288647.2:c.508C>A, NM_001288647.1:c.508C>A, NM_001288642.2:c.973C>A, NM_001288642.1:c.973C>A, NM_001288648.2:c.508C>A, NM_001288648.1:c.508C>A, NM_001288643.2:c.814C>A, NM_001288643.1:c.814C>A, NM_001288644.2:c.508C>A, NM_001288644.1:c.751C>A, NM_001288649.2:c.508C>A, NM_001288649.1:c.508C>A, NM_001369438.1:c.508C>A, NM_001369436.1:c.508C>A, NM_001369440.1:c.691C>A, NM_001369437.1:c.508C>A, NR_171000.1:n.1152C>A, NP_065703.1:p.His282Asn, NP_001275574.1:p.His170Asn, NP_001275575.1:p.His170Asn, NP_001124314.1:p.His282Asn, NP_001275576.1:p.His170Asn, NP_001275571.1:p.His325Asn, NP_001275577.1:p.His170Asn, NP_001275572.1:p.His272Asn, NP_001275573.2:p.His170Asn, NP_001275578.1:p.His170Asn, NP_001356367.1:p.His170Asn, NP_001356365.1:p.His170Asn, NP_001356369.1:p.His231Asn, NP_001356366.1:p.His170Asn

                        12.

                        rs1477317496 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:15717159 (GRCh38)
                          17:15620473 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:15717158:T:C
                          Gene:
                          ZNF286A (Varview), ZNF286A-TBC1D26 (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=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000017.11:g.15717159T>C, NC_000017.10:g.15620473T>C, NM_020652.3:c.1435T>C, NM_020652.2:c.1435T>C, NM_001288645.2:c.1099T>C, NM_001288645.1:c.1099T>C, NM_001288646.2:c.1099T>C, NM_001288646.1:c.1099T>C, NM_001130842.2:c.1435T>C, NM_001130842.1:c.1435T>C, NM_001288647.2:c.1099T>C, NM_001288647.1:c.1099T>C, NM_001288642.2:c.1564T>C, NM_001288642.1:c.1564T>C, NM_001288648.2:c.1099T>C, NM_001288648.1:c.1099T>C, NM_001288643.2:c.1405T>C, NM_001288643.1:c.1405T>C, NM_001288644.2:c.1099T>C, NM_001288644.1:c.1342T>C, NM_001288649.2:c.1099T>C, NM_001288649.1:c.1099T>C, NM_001369438.1:c.1099T>C, NM_001369436.1:c.1099T>C, NM_001369440.1:c.1282T>C, NM_001369437.1:c.1099T>C, NR_171000.1:n.1743T>C, NP_065703.1:p.Ser479Pro, NP_001275574.1:p.Ser367Pro, NP_001275575.1:p.Ser367Pro, NP_001124314.1:p.Ser479Pro, NP_001275576.1:p.Ser367Pro, NP_001275571.1:p.Ser522Pro, NP_001275577.1:p.Ser367Pro, NP_001275572.1:p.Ser469Pro, NP_001275573.2:p.Ser367Pro, NP_001275578.1:p.Ser367Pro, NP_001356367.1:p.Ser367Pro, NP_001356365.1:p.Ser367Pro, NP_001356369.1:p.Ser428Pro, NP_001356366.1:p.Ser367Pro

                          13.

                          rs1476775534 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            17:15717023 (GRCh38)
                            17:15620337 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:15717022:T:G
                            Gene:
                            ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1475854020 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:15706460 (GRCh38)
                              17:15609774 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:15706459:G:A,NC_000017.11:15706459:G:T
                              Gene:
                              ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000017.11:g.15706460G>A, NC_000017.11:g.15706460G>T, NC_000017.10:g.15609774G>A, NC_000017.10:g.15609774G>T, NM_020652.3:c.200G>A, NM_020652.3:c.200G>T, NM_020652.2:c.200G>A, NM_020652.2:c.200G>T, NM_001288645.2:c.-196G>A, NM_001288645.2:c.-196G>T, NM_001288645.1:c.-196G>A, NM_001288645.1:c.-196G>T, NM_001288646.2:c.-196G>A, NM_001288646.2:c.-196G>T, NM_001288646.1:c.-196G>A, NM_001288646.1:c.-196G>T, NM_001130842.2:c.200G>A, NM_001130842.2:c.200G>T, NM_001130842.1:c.200G>A, NM_001130842.1:c.200G>T, NM_001288642.2:c.329G>A, NM_001288642.2:c.329G>T, NM_001288642.1:c.329G>A, NM_001288642.1:c.329G>T, NM_001288648.2:c.-196G>A, NM_001288648.2:c.-196G>T, NM_001288648.1:c.-196G>A, NM_001288648.1:c.-196G>T, NM_001288643.2:c.170G>A, NM_001288643.2:c.170G>T, NM_001288643.1:c.170G>A, NM_001288643.1:c.170G>T, NM_001369438.1:c.-196G>A, NM_001369438.1:c.-196G>T, NM_001369436.1:c.-196G>A, NM_001369436.1:c.-196G>T, NM_001369440.1:c.47G>A, NM_001369440.1:c.47G>T, NR_171000.1:n.508G>A, NR_171000.1:n.508G>T, NP_065703.1:p.Arg67Lys, NP_065703.1:p.Arg67Met, NP_001124314.1:p.Arg67Lys, NP_001124314.1:p.Arg67Met, NP_001275571.1:p.Arg110Lys, NP_001275571.1:p.Arg110Met, NP_001275572.1:p.Arg57Lys, NP_001275572.1:p.Arg57Met, NP_001356369.1:p.Arg16Lys, NP_001356369.1:p.Arg16Met

                              15.

                              rs1468980179 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                17:15716140 (GRCh38)
                                17:15619454 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:15716139:T:C,NC_000017.11:15716139:T:G
                                Gene:
                                ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                C=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000017.11:g.15716140T>C, NC_000017.11:g.15716140T>G, NC_000017.10:g.15619454T>C, NC_000017.10:g.15619454T>G, NM_020652.3:c.416T>C, NM_020652.3:c.416T>G, NM_020652.2:c.416T>C, NM_020652.2:c.416T>G, NM_001288645.2:c.80T>C, NM_001288645.2:c.80T>G, NM_001288645.1:c.80T>C, NM_001288645.1:c.80T>G, NM_001288646.2:c.80T>C, NM_001288646.2:c.80T>G, NM_001288646.1:c.80T>C, NM_001288646.1:c.80T>G, NM_001130842.2:c.416T>C, NM_001130842.2:c.416T>G, NM_001130842.1:c.416T>C, NM_001130842.1:c.416T>G, NM_001288647.2:c.80T>C, NM_001288647.2:c.80T>G, NM_001288647.1:c.80T>C, NM_001288647.1:c.80T>G, NM_001288642.2:c.545T>C, NM_001288642.2:c.545T>G, NM_001288642.1:c.545T>C, NM_001288642.1:c.545T>G, NM_001288648.2:c.80T>C, NM_001288648.2:c.80T>G, NM_001288648.1:c.80T>C, NM_001288648.1:c.80T>G, NM_001288643.2:c.386T>C, NM_001288643.2:c.386T>G, NM_001288643.1:c.386T>C, NM_001288643.1:c.386T>G, NM_001288644.2:c.80T>C, NM_001288644.2:c.80T>G, NM_001288644.1:c.323T>C, NM_001288644.1:c.323T>G, NM_001288649.2:c.80T>C, NM_001288649.2:c.80T>G, NM_001288649.1:c.80T>C, NM_001288649.1:c.80T>G, NM_001369438.1:c.80T>C, NM_001369438.1:c.80T>G, NM_001369436.1:c.80T>C, NM_001369436.1:c.80T>G, NM_001369440.1:c.263T>C, NM_001369440.1:c.263T>G, NM_001369437.1:c.80T>C, NM_001369437.1:c.80T>G, NR_171000.1:n.724T>C, NR_171000.1:n.724T>G, NP_065703.1:p.Ile139Thr, NP_065703.1:p.Ile139Arg, NP_001275574.1:p.Ile27Thr, NP_001275574.1:p.Ile27Arg, NP_001275575.1:p.Ile27Thr, NP_001275575.1:p.Ile27Arg, NP_001124314.1:p.Ile139Thr, NP_001124314.1:p.Ile139Arg, NP_001275576.1:p.Ile27Thr, NP_001275576.1:p.Ile27Arg, NP_001275571.1:p.Ile182Thr, NP_001275571.1:p.Ile182Arg, NP_001275577.1:p.Ile27Thr, NP_001275577.1:p.Ile27Arg, NP_001275572.1:p.Ile129Thr, NP_001275572.1:p.Ile129Arg, NP_001275573.2:p.Ile27Thr, NP_001275573.2:p.Ile27Arg, NP_001275578.1:p.Ile27Thr, NP_001275578.1:p.Ile27Arg, NP_001356367.1:p.Ile27Thr, NP_001356367.1:p.Ile27Arg, NP_001356365.1:p.Ile27Thr, NP_001356365.1:p.Ile27Arg, NP_001356369.1:p.Ile88Thr, NP_001356369.1:p.Ile88Arg, NP_001356366.1:p.Ile27Thr, NP_001356366.1:p.Ile27Arg

                                16.

                                rs1467700995 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:15701228 (GRCh38)
                                  17:15604542 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:15701227:G:A
                                  Gene:
                                  ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000028/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1467317306 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    17:15716483 (GRCh38)
                                    17:15619797 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:15716482:C:G,NC_000017.11:15716482:C:T
                                    Gene:
                                    ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000106/2 (TOMMO)
                                    HGVS:
                                    NC_000017.11:g.15716483C>G, NC_000017.11:g.15716483C>T, NC_000017.10:g.15619797C>G, NC_000017.10:g.15619797C>T, NM_020652.3:c.759C>G, NM_020652.3:c.759C>T, NM_020652.2:c.759C>G, NM_020652.2:c.759C>T, NM_001288645.2:c.423C>G, NM_001288645.2:c.423C>T, NM_001288645.1:c.423C>G, NM_001288645.1:c.423C>T, NM_001288646.2:c.423C>G, NM_001288646.2:c.423C>T, NM_001288646.1:c.423C>G, NM_001288646.1:c.423C>T, NM_001130842.2:c.759C>G, NM_001130842.2:c.759C>T, NM_001130842.1:c.759C>G, NM_001130842.1:c.759C>T, NM_001288647.2:c.423C>G, NM_001288647.2:c.423C>T, NM_001288647.1:c.423C>G, NM_001288647.1:c.423C>T, NM_001288642.2:c.888C>G, NM_001288642.2:c.888C>T, NM_001288642.1:c.888C>G, NM_001288642.1:c.888C>T, NM_001288648.2:c.423C>G, NM_001288648.2:c.423C>T, NM_001288648.1:c.423C>G, NM_001288648.1:c.423C>T, NM_001288643.2:c.729C>G, NM_001288643.2:c.729C>T, NM_001288643.1:c.729C>G, NM_001288643.1:c.729C>T, NM_001288644.2:c.423C>G, NM_001288644.2:c.423C>T, NM_001288644.1:c.666C>G, NM_001288644.1:c.666C>T, NM_001288649.2:c.423C>G, NM_001288649.2:c.423C>T, NM_001288649.1:c.423C>G, NM_001288649.1:c.423C>T, NM_001369438.1:c.423C>G, NM_001369438.1:c.423C>T, NM_001369436.1:c.423C>G, NM_001369436.1:c.423C>T, NM_001369440.1:c.606C>G, NM_001369440.1:c.606C>T, NM_001369437.1:c.423C>G, NM_001369437.1:c.423C>T, NR_171000.1:n.1067C>G, NR_171000.1:n.1067C>T

                                    18.

                                    rs1467218222 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      17:15708212 (GRCh38)
                                      17:15611526 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:15708211:A:C
                                      Gene:
                                      ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_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)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1464674876 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:15717244 (GRCh38)
                                        17:15620558 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:15717243:C:T
                                        Gene:
                                        ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        NC_000017.11:g.15717244C>T, NC_000017.10:g.15620558C>T, NM_020652.3:c.1520C>T, NM_020652.2:c.1520C>T, NM_001288645.2:c.1184C>T, NM_001288645.1:c.1184C>T, NM_001288646.2:c.1184C>T, NM_001288646.1:c.1184C>T, NM_001130842.2:c.1520C>T, NM_001130842.1:c.1520C>T, NM_001288647.2:c.1184C>T, NM_001288647.1:c.1184C>T, NM_001288642.2:c.1649C>T, NM_001288642.1:c.1649C>T, NM_001288648.2:c.1184C>T, NM_001288648.1:c.1184C>T, NM_001288643.2:c.1490C>T, NM_001288643.1:c.1490C>T, NM_001288644.2:c.1184C>T, NM_001288644.1:c.1427C>T, NM_001288649.2:c.1184C>T, NM_001288649.1:c.1184C>T, NM_001369438.1:c.1184C>T, NM_001369436.1:c.1184C>T, NM_001369440.1:c.1367C>T, NM_001369437.1:c.1184C>T, NR_171000.1:n.1828C>T, NP_065703.1:p.Ser507Leu, NP_001275574.1:p.Ser395Leu, NP_001275575.1:p.Ser395Leu, NP_001124314.1:p.Ser507Leu, NP_001275576.1:p.Ser395Leu, NP_001275571.1:p.Ser550Leu, NP_001275577.1:p.Ser395Leu, NP_001275572.1:p.Ser497Leu, NP_001275573.2:p.Ser395Leu, NP_001275578.1:p.Ser395Leu, NP_001356367.1:p.Ser395Leu, NP_001356365.1:p.Ser395Leu, NP_001356369.1:p.Ser456Leu, NP_001356366.1:p.Ser395Leu

                                        20.

                                        rs1464605842 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AG>- [Show Flanks]
                                          Chromosome:
                                          17:15716513 (GRCh38)
                                          17:15619827 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:15716508:AGAGAG:AGAG
                                          Gene:
                                          ZNF286A (Varview), ZNF286A-TBC1D26 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AGAG=0./0 (ALFA)
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.15716509AG[2], NC_000017.10:g.15619823AG[2], NM_020652.3:c.789_790del, NM_020652.2:c.789_790del, NM_001288645.2:c.453_454del, NM_001288645.1:c.453_454del, NM_001288646.2:c.453_454del, NM_001288646.1:c.453_454del, NM_001130842.2:c.789_790del, NM_001130842.1:c.789_790del, NM_001288647.2:c.453_454del, NM_001288647.1:c.453_454del, NM_001288642.2:c.918_919del, NM_001288642.1:c.918_919del, NM_001288648.2:c.453_454del, NM_001288648.1:c.453_454del, NM_001288643.2:c.759_760del, NM_001288643.1:c.759_760del, NM_001288644.2:c.453_454del, NM_001288644.1:c.696_697del, NM_001288649.2:c.453_454del, NM_001288649.1:c.453_454del, NM_001369438.1:c.453_454del, NM_001369436.1:c.453_454del, NM_001369440.1:c.636_637del, NM_001369437.1:c.453_454del, NR_171000.1:n.1093AG[2], NP_065703.1:p.Arg263fs, NP_001275574.1:p.Arg151fs, NP_001275575.1:p.Arg151fs, NP_001124314.1:p.Arg263fs, NP_001275576.1:p.Arg151fs, NP_001275571.1:p.Arg306fs, NP_001275577.1:p.Arg151fs, NP_001275572.1:p.Arg253fs, NP_001275573.2:p.Arg151fs, NP_001275578.1:p.Arg151fs, NP_001356367.1:p.Arg151fs, NP_001356365.1:p.Arg151fs, NP_001356369.1:p.Arg212fs, NP_001356366.1:p.Arg151fs

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