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Items: 1 to 20 of 551

1.

rs1489260811 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:149959693 (GRCh38)
    1:149931612 (GRCh37)
    Canonical SPDI:
    NC_000001.11:149959692:T:C
    Gene:
    OTUD7B (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.149959693T>C, NW_003871055.3:g.6775106T>C, NC_000001.10:g.149931612T>C, NM_020205.4:c.836A>G, NM_020205.3:c.836A>G, XM_011509784.4:c.836A>G, XM_011509784.3:c.836A>G, XM_011509784.2:c.836A>G, XM_011509784.1:c.836A>G, XM_011509785.3:c.836A>G, XM_011509785.2:c.836A>G, XM_011509785.1:c.836A>G, XM_011509788.3:c.599A>G, XM_011509788.2:c.599A>G, XM_011509788.1:c.599A>G, XM_011509782.2:c.836A>G, XM_011509782.1:c.836A>G, XM_017001850.2:c.599A>G, XM_017001850.1:c.599A>G, XM_047425717.1:c.836A>G, XM_047425712.1:c.836A>G, XM_047425715.1:c.836A>G, XM_047425716.1:c.836A>G, XM_047425721.1:c.836A>G, XM_047425720.1:c.836A>G, NP_064590.2:p.Asn279Ser, XP_011508086.1:p.Asn279Ser, XP_011508087.1:p.Asn279Ser, XP_011508090.1:p.Asn200Ser, XP_011508084.1:p.Asn279Ser, XP_016857339.1:p.Asn200Ser, XP_047281673.1:p.Asn279Ser, XP_047281668.1:p.Asn279Ser, XP_047281671.1:p.Asn279Ser, XP_047281672.1:p.Asn279Ser, XP_047281677.1:p.Asn279Ser, XP_047281676.1:p.Asn279Ser

    2.

    rs1476494569 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:149965782 (GRCh38)
      1:149937707 (GRCh37)
      Canonical SPDI:
      NC_000001.11:149965781:G:C
      Gene:
      OTUD7B (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.149965782G>C, NW_003871055.3:g.6781195G>C, NC_000001.10:g.149937707G>C, NM_020205.4:c.599C>G, NM_020205.3:c.599C>G, XM_011509784.4:c.599C>G, XM_011509784.3:c.599C>G, XM_011509784.2:c.599C>G, XM_011509784.1:c.599C>G, XM_011509785.3:c.599C>G, XM_011509785.2:c.599C>G, XM_011509785.1:c.599C>G, XM_011509788.3:c.362C>G, XM_011509788.2:c.362C>G, XM_011509788.1:c.362C>G, XM_011509782.2:c.599C>G, XM_011509782.1:c.599C>G, XM_017001850.2:c.362C>G, XM_017001850.1:c.362C>G, XM_047425717.1:c.599C>G, XM_047425712.1:c.599C>G, XM_047425715.1:c.599C>G, XM_047425716.1:c.599C>G, XM_047425721.1:c.599C>G, XM_047425720.1:c.599C>G, NP_064590.2:p.Ser200Cys, XP_011508086.1:p.Ser200Cys, XP_011508087.1:p.Ser200Cys, XP_011508090.1:p.Ser121Cys, XP_011508084.1:p.Ser200Cys, XP_016857339.1:p.Ser121Cys, XP_047281673.1:p.Ser200Cys, XP_047281668.1:p.Ser200Cys, XP_047281671.1:p.Ser200Cys, XP_047281672.1:p.Ser200Cys, XP_047281677.1:p.Ser200Cys, XP_047281676.1:p.Ser200Cys

      3.

      rs1473423447 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:149971140 (GRCh38)
        1:149943068 (GRCh37)
        Canonical SPDI:
        NC_000001.11:149971139:G:C
        Gene:
        OTUD7B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        NC_000001.11:g.149971140G>C, NW_003871055.3:g.6786553G>C, NC_000001.10:g.149943068G>C, NM_020205.4:c.197C>G, NM_020205.3:c.197C>G, XM_011509784.4:c.197C>G, XM_011509784.3:c.197C>G, XM_011509784.2:c.197C>G, XM_011509784.1:c.197C>G, XM_011509785.3:c.197C>G, XM_011509785.2:c.197C>G, XM_011509785.1:c.197C>G, XM_011509788.3:c.94C>G, XM_011509788.2:c.94C>G, XM_011509788.1:c.94C>G, XM_011509782.2:c.197C>G, XM_011509782.1:c.197C>G, XM_017001850.2:c.94C>G, XM_017001850.1:c.94C>G, XM_047425717.1:c.197C>G, XM_047425712.1:c.197C>G, XM_047425715.1:c.197C>G, XM_047425716.1:c.197C>G, XM_047425721.1:c.197C>G, XM_047425720.1:c.197C>G, NP_064590.2:p.Pro66Arg, XP_011508086.1:p.Pro66Arg, XP_011508087.1:p.Pro66Arg, XP_011508090.1:p.Leu32Val, XP_011508084.1:p.Pro66Arg, XP_016857339.1:p.Leu32Val, XP_047281673.1:p.Pro66Arg, XP_047281668.1:p.Pro66Arg, XP_047281671.1:p.Pro66Arg, XP_047281672.1:p.Pro66Arg, XP_047281677.1:p.Pro66Arg, XP_047281676.1:p.Pro66Arg

        4.

        rs1472769562 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:149943883 (GRCh38)
          1:149915782 (GRCh37)
          Canonical SPDI:
          NC_000001.11:149943882:C:T
          Gene:
          OTUD7B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.149943883C>T, NW_003871055.3:g.6759296C>T, NC_000001.10:g.149915782C>T, NM_020205.4:c.2506G>A, NM_020205.3:c.2506G>A, XM_011509784.4:c.2533G>A, XM_011509784.3:c.2533G>A, XM_011509784.2:c.2533G>A, XM_011509784.1:c.2533G>A, XM_011509785.3:c.2533G>A, XM_011509785.2:c.2533G>A, XM_011509785.1:c.2533G>A, XM_011509788.3:c.2296G>A, XM_011509788.2:c.2296G>A, XM_011509788.1:c.2296G>A, XM_011509782.2:c.2533G>A, XM_011509782.1:c.2533G>A, XM_017001850.2:c.2269G>A, XM_017001850.1:c.2269G>A, XM_047425717.1:c.2506G>A, XM_047425712.1:c.2533G>A, XM_047425715.1:c.2533G>A, XM_047425716.1:c.2533G>A, XM_047425721.1:c.2506G>A, XM_047425720.1:c.2506G>A, NP_064590.2:p.Gly836Arg, XP_011508086.1:p.Gly845Arg, XP_011508087.1:p.Gly845Arg, XP_011508090.1:p.Gly766Arg, XP_011508084.1:p.Gly845Arg, XP_016857339.1:p.Gly757Arg, XP_047281673.1:p.Gly836Arg, XP_047281668.1:p.Gly845Arg, XP_047281671.1:p.Gly845Arg, XP_047281672.1:p.Gly845Arg, XP_047281677.1:p.Gly836Arg, XP_047281676.1:p.Gly836Arg

          5.

          rs1466186933 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:149944462 (GRCh38)
            1:149916361 (GRCh37)
            Canonical SPDI:
            NC_000001.11:149944461:G:A
            Gene:
            OTUD7B (Varview)
            Functional Consequence:
            coding_sequence_variant,stop_gained
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.149944462G>A, NW_003871055.3:g.6759875G>A, NC_000001.10:g.149916361G>A, NM_020205.4:c.1927C>T, NM_020205.3:c.1927C>T, XM_011509784.4:c.1954C>T, XM_011509784.3:c.1954C>T, XM_011509784.2:c.1954C>T, XM_011509784.1:c.1954C>T, XM_011509785.3:c.1954C>T, XM_011509785.2:c.1954C>T, XM_011509785.1:c.1954C>T, XM_011509788.3:c.1717C>T, XM_011509788.2:c.1717C>T, XM_011509788.1:c.1717C>T, XM_011509782.2:c.1954C>T, XM_011509782.1:c.1954C>T, XM_017001850.2:c.1690C>T, XM_017001850.1:c.1690C>T, XM_047425717.1:c.1927C>T, XM_047425712.1:c.1954C>T, XM_047425715.1:c.1954C>T, XM_047425716.1:c.1954C>T, XM_047425721.1:c.1927C>T, XM_047425720.1:c.1927C>T, NP_064590.2:p.Gln643Ter, XP_011508086.1:p.Gln652Ter, XP_011508087.1:p.Gln652Ter, XP_011508090.1:p.Gln573Ter, XP_011508084.1:p.Gln652Ter, XP_016857339.1:p.Gln564Ter, XP_047281673.1:p.Gln643Ter, XP_047281668.1:p.Gln652Ter, XP_047281671.1:p.Gln652Ter, XP_047281672.1:p.Gln652Ter, XP_047281677.1:p.Gln643Ter, XP_047281676.1:p.Gln643Ter

            6.

            rs1464501130 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              1:149943909 (GRCh38)
              1:149915808 (GRCh37)
              Canonical SPDI:
              NC_000001.11:149943908:A:T
              Gene:
              OTUD7B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.149943909A>T, NW_003871055.3:g.6759322A>T, NC_000001.10:g.149915808A>T, NM_020205.4:c.2480T>A, NM_020205.3:c.2480T>A, XM_011509784.4:c.2507T>A, XM_011509784.3:c.2507T>A, XM_011509784.2:c.2507T>A, XM_011509784.1:c.2507T>A, XM_011509785.3:c.2507T>A, XM_011509785.2:c.2507T>A, XM_011509785.1:c.2507T>A, XM_011509788.3:c.2270T>A, XM_011509788.2:c.2270T>A, XM_011509788.1:c.2270T>A, XM_011509782.2:c.2507T>A, XM_011509782.1:c.2507T>A, XM_017001850.2:c.2243T>A, XM_017001850.1:c.2243T>A, XM_047425717.1:c.2480T>A, XM_047425712.1:c.2507T>A, XM_047425715.1:c.2507T>A, XM_047425716.1:c.2507T>A, XM_047425721.1:c.2480T>A, XM_047425720.1:c.2480T>A, NP_064590.2:p.Leu827Gln, XP_011508086.1:p.Leu836Gln, XP_011508087.1:p.Leu836Gln, XP_011508090.1:p.Leu757Gln, XP_011508084.1:p.Leu836Gln, XP_016857339.1:p.Leu748Gln, XP_047281673.1:p.Leu827Gln, XP_047281668.1:p.Leu836Gln, XP_047281671.1:p.Leu836Gln, XP_047281672.1:p.Leu836Gln, XP_047281677.1:p.Leu827Gln, XP_047281676.1:p.Leu827Gln

              7.

              rs1463031294 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:149944707 (GRCh38)
                1:149916606 (GRCh37)
                Canonical SPDI:
                NC_000001.11:149944706:C:T
                Gene:
                OTUD7B (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.149944707C>T, NW_003871055.3:g.6760120C>T, NC_000001.10:g.149916606C>T, NM_020205.4:c.1682G>A, NM_020205.3:c.1682G>A, XM_011509784.4:c.1709G>A, XM_011509784.3:c.1709G>A, XM_011509784.2:c.1709G>A, XM_011509784.1:c.1709G>A, XM_011509785.3:c.1709G>A, XM_011509785.2:c.1709G>A, XM_011509785.1:c.1709G>A, XM_011509788.3:c.1472G>A, XM_011509788.2:c.1472G>A, XM_011509788.1:c.1472G>A, XM_011509782.2:c.1709G>A, XM_011509782.1:c.1709G>A, XM_017001850.2:c.1445G>A, XM_017001850.1:c.1445G>A, XM_047425717.1:c.1682G>A, XM_047425712.1:c.1709G>A, XM_047425715.1:c.1709G>A, XM_047425716.1:c.1709G>A, XM_047425721.1:c.1682G>A, XM_047425720.1:c.1682G>A, NP_064590.2:p.Gly561Asp, XP_011508086.1:p.Gly570Asp, XP_011508087.1:p.Gly570Asp, XP_011508090.1:p.Gly491Asp, XP_011508084.1:p.Gly570Asp, XP_016857339.1:p.Gly482Asp, XP_047281673.1:p.Gly561Asp, XP_047281668.1:p.Gly570Asp, XP_047281671.1:p.Gly570Asp, XP_047281672.1:p.Gly570Asp, XP_047281677.1:p.Gly561Asp, XP_047281676.1:p.Gly561Asp

                8.

                rs1459256921 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CATC>- [Show Flanks]
                  Chromosome:
                  1:149944030 (GRCh38)
                  1:149915929 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:149944024:CCATCCATC:CCATC
                  Gene:
                  OTUD7B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCATC=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000001.11:g.149944026CATC[1], NW_003871055.3:g.6759439CATC[1], NC_000001.10:g.149915925CATC[1], NM_020205.4:c.2361_2364del, NM_020205.3:c.2361_2364del, XM_011509784.4:c.2388_2391del, XM_011509784.3:c.2388_2391del, XM_011509784.2:c.2388_2391del, XM_011509784.1:c.2388_2391del, XM_011509785.3:c.2388_2391del, XM_011509785.2:c.2388_2391del, XM_011509785.1:c.2388_2391del, XM_011509788.3:c.2151_2154del, XM_011509788.2:c.2151_2154del, XM_011509788.1:c.2151_2154del, XM_011509782.2:c.2388_2391del, XM_011509782.1:c.2388_2391del, XM_017001850.2:c.2124_2127del, XM_017001850.1:c.2124_2127del, XM_047425717.1:c.2361_2364del, XM_047425712.1:c.2388_2391del, XM_047425715.1:c.2388_2391del, XM_047425716.1:c.2388_2391del, XM_047425721.1:c.2361_2364del, XM_047425720.1:c.2361_2364del, NP_064590.2:p.Trp788fs, XP_011508086.1:p.Trp797fs, XP_011508087.1:p.Trp797fs, XP_011508090.1:p.Trp718fs, XP_011508084.1:p.Trp797fs, XP_016857339.1:p.Trp709fs, XP_047281673.1:p.Trp788fs, XP_047281668.1:p.Trp797fs, XP_047281671.1:p.Trp797fs, XP_047281672.1:p.Trp797fs, XP_047281677.1:p.Trp788fs, XP_047281676.1:p.Trp788fs

                  9.

                  rs1454122623 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:149944968 (GRCh38)
                    1:149916867 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:149944967:C:T
                    Gene:
                    OTUD7B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.149944968C>T, NW_003871055.3:g.6760381C>T, NC_000001.10:g.149916867C>T, NM_020205.4:c.1421G>A, NM_020205.3:c.1421G>A, XM_011509784.4:c.1448G>A, XM_011509784.3:c.1448G>A, XM_011509784.2:c.1448G>A, XM_011509784.1:c.1448G>A, XM_011509785.3:c.1448G>A, XM_011509785.2:c.1448G>A, XM_011509785.1:c.1448G>A, XM_011509788.3:c.1211G>A, XM_011509788.2:c.1211G>A, XM_011509788.1:c.1211G>A, XM_011509782.2:c.1448G>A, XM_011509782.1:c.1448G>A, XM_017001850.2:c.1184G>A, XM_017001850.1:c.1184G>A, XM_047425717.1:c.1421G>A, XM_047425712.1:c.1448G>A, XM_047425715.1:c.1448G>A, XM_047425716.1:c.1448G>A, XM_047425721.1:c.1421G>A, XM_047425720.1:c.1421G>A, NP_064590.2:p.Ser474Asn, XP_011508086.1:p.Ser483Asn, XP_011508087.1:p.Ser483Asn, XP_011508090.1:p.Ser404Asn, XP_011508084.1:p.Ser483Asn, XP_016857339.1:p.Ser395Asn, XP_047281673.1:p.Ser474Asn, XP_047281668.1:p.Ser483Asn, XP_047281671.1:p.Ser483Asn, XP_047281672.1:p.Ser483Asn, XP_047281677.1:p.Ser474Asn, XP_047281676.1:p.Ser474Asn

                    10.

                    rs1453888364 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      1:149944191 (GRCh38)
                      1:149916090 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:149944190:T:G
                      Gene:
                      OTUD7B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000001.11:g.149944191T>G, NW_003871055.3:g.6759604T>G, NC_000001.10:g.149916090T>G, NM_020205.4:c.2198A>C, NM_020205.3:c.2198A>C, XM_011509784.4:c.2225A>C, XM_011509784.3:c.2225A>C, XM_011509784.2:c.2225A>C, XM_011509784.1:c.2225A>C, XM_011509785.3:c.2225A>C, XM_011509785.2:c.2225A>C, XM_011509785.1:c.2225A>C, XM_011509788.3:c.1988A>C, XM_011509788.2:c.1988A>C, XM_011509788.1:c.1988A>C, XM_011509782.2:c.2225A>C, XM_011509782.1:c.2225A>C, XM_017001850.2:c.1961A>C, XM_017001850.1:c.1961A>C, XM_047425717.1:c.2198A>C, XM_047425712.1:c.2225A>C, XM_047425715.1:c.2225A>C, XM_047425716.1:c.2225A>C, XM_047425721.1:c.2198A>C, XM_047425720.1:c.2198A>C, NP_064590.2:p.Gln733Pro, XP_011508086.1:p.Gln742Pro, XP_011508087.1:p.Gln742Pro, XP_011508090.1:p.Gln663Pro, XP_011508084.1:p.Gln742Pro, XP_016857339.1:p.Gln654Pro, XP_047281673.1:p.Gln733Pro, XP_047281668.1:p.Gln742Pro, XP_047281671.1:p.Gln742Pro, XP_047281672.1:p.Gln742Pro, XP_047281677.1:p.Gln733Pro, XP_047281676.1:p.Gln733Pro

                      11.

                      rs1448214875 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        1:149947244 (GRCh38)
                        1:149919145 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:149947243:T:C,NC_000001.11:149947243:T:G
                        Gene:
                        OTUD7B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.149947244T>C, NC_000001.11:g.149947244T>G, NW_003871055.3:g.6762657T>C, NW_003871055.3:g.6762657T>G, NC_000001.10:g.149919145T>C, NC_000001.10:g.149919145T>G, XM_011509784.4:c.1330A>G, XM_011509784.4:c.1330A>C, XM_011509784.3:c.1330A>G, XM_011509784.3:c.1330A>C, XM_011509784.2:c.1330A>G, XM_011509784.2:c.1330A>C, XM_011509784.1:c.1330A>G, XM_011509784.1:c.1330A>C, XM_011509785.3:c.1330A>G, XM_011509785.3:c.1330A>C, XM_011509785.2:c.1330A>G, XM_011509785.2:c.1330A>C, XM_011509785.1:c.1330A>G, XM_011509785.1:c.1330A>C, XM_011509788.3:c.1093A>G, XM_011509788.3:c.1093A>C, XM_011509788.2:c.1093A>G, XM_011509788.2:c.1093A>C, XM_011509788.1:c.1093A>G, XM_011509788.1:c.1093A>C, XM_011509782.2:c.1330A>G, XM_011509782.2:c.1330A>C, XM_011509782.1:c.1330A>G, XM_011509782.1:c.1330A>C, XM_047425712.1:c.1330A>G, XM_047425712.1:c.1330A>C, XM_047425715.1:c.1330A>G, XM_047425715.1:c.1330A>C, XM_047425716.1:c.1330A>G, XM_047425716.1:c.1330A>C, XP_011508086.1:p.Thr444Ala, XP_011508086.1:p.Thr444Pro, XP_011508087.1:p.Thr444Ala, XP_011508087.1:p.Thr444Pro, XP_011508090.1:p.Thr365Ala, XP_011508090.1:p.Thr365Pro, XP_011508084.1:p.Thr444Ala, XP_011508084.1:p.Thr444Pro, XP_047281668.1:p.Thr444Ala, XP_047281668.1:p.Thr444Pro, XP_047281671.1:p.Thr444Ala, XP_047281671.1:p.Thr444Pro, XP_047281672.1:p.Thr444Ala, XP_047281672.1:p.Thr444Pro

                        12.

                        rs1445792371 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:149949754 (GRCh38)
                          1:149921657 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:149949753:C:T
                          Gene:
                          OTUD7B (Varview)
                          Functional Consequence:
                          coding_sequence_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_000001.11:g.149949754C>T, NW_003871055.3:g.6765167C>T, NC_000001.10:g.149921657C>T, NM_020205.4:c.998G>A, NM_020205.3:c.998G>A, XM_011509784.4:c.998G>A, XM_011509784.3:c.998G>A, XM_011509784.2:c.998G>A, XM_011509784.1:c.998G>A, XM_011509785.3:c.998G>A, XM_011509785.2:c.998G>A, XM_011509785.1:c.998G>A, XM_011509788.3:c.761G>A, XM_011509788.2:c.761G>A, XM_011509788.1:c.761G>A, XM_011509782.2:c.998G>A, XM_011509782.1:c.998G>A, XM_017001850.2:c.761G>A, XM_017001850.1:c.761G>A, XM_047425717.1:c.998G>A, XM_047425712.1:c.998G>A, XM_047425715.1:c.998G>A, XM_047425716.1:c.998G>A, XM_047425721.1:c.998G>A, XM_047425720.1:c.998G>A, NP_064590.2:p.Gly333Glu, XP_011508086.1:p.Gly333Glu, XP_011508087.1:p.Gly333Glu, XP_011508090.1:p.Gly254Glu, XP_011508084.1:p.Gly333Glu, XP_016857339.1:p.Gly254Glu, XP_047281673.1:p.Gly333Glu, XP_047281668.1:p.Gly333Glu, XP_047281671.1:p.Gly333Glu, XP_047281672.1:p.Gly333Glu, XP_047281677.1:p.Gly333Glu, XP_047281676.1:p.Gly333Glu

                          13.

                          rs1443059261 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:149944985 (GRCh38)
                            1:149916884 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:149944984:G:C
                            Gene:
                            OTUD7B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.149944985G>C, NW_003871055.3:g.6760398G>C, NC_000001.10:g.149916884G>C, NM_020205.4:c.1404C>G, NM_020205.3:c.1404C>G, XM_011509784.4:c.1431C>G, XM_011509784.3:c.1431C>G, XM_011509784.2:c.1431C>G, XM_011509784.1:c.1431C>G, XM_011509785.3:c.1431C>G, XM_011509785.2:c.1431C>G, XM_011509785.1:c.1431C>G, XM_011509788.3:c.1194C>G, XM_011509788.2:c.1194C>G, XM_011509788.1:c.1194C>G, XM_011509782.2:c.1431C>G, XM_011509782.1:c.1431C>G, XM_017001850.2:c.1167C>G, XM_017001850.1:c.1167C>G, XM_047425717.1:c.1404C>G, XM_047425712.1:c.1431C>G, XM_047425715.1:c.1431C>G, XM_047425716.1:c.1431C>G, XM_047425721.1:c.1404C>G, XM_047425720.1:c.1404C>G, NP_064590.2:p.Asp468Glu, XP_011508086.1:p.Asp477Glu, XP_011508087.1:p.Asp477Glu, XP_011508090.1:p.Asp398Glu, XP_011508084.1:p.Asp477Glu, XP_016857339.1:p.Asp389Glu, XP_047281673.1:p.Asp468Glu, XP_047281668.1:p.Asp477Glu, XP_047281671.1:p.Asp477Glu, XP_047281672.1:p.Asp477Glu, XP_047281677.1:p.Asp468Glu, XP_047281676.1:p.Asp468Glu

                            14.

                            rs1433663861 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:149943982 (GRCh38)
                              1:149915881 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:149943981:T:C
                              Gene:
                              OTUD7B (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.149943982T>C, NW_003871055.3:g.6759395T>C, NC_000001.10:g.149915881T>C, NM_020205.4:c.2407A>G, NM_020205.3:c.2407A>G, XM_011509784.4:c.2434A>G, XM_011509784.3:c.2434A>G, XM_011509784.2:c.2434A>G, XM_011509784.1:c.2434A>G, XM_011509785.3:c.2434A>G, XM_011509785.2:c.2434A>G, XM_011509785.1:c.2434A>G, XM_011509788.3:c.2197A>G, XM_011509788.2:c.2197A>G, XM_011509788.1:c.2197A>G, XM_011509782.2:c.2434A>G, XM_011509782.1:c.2434A>G, XM_017001850.2:c.2170A>G, XM_017001850.1:c.2170A>G, XM_047425717.1:c.2407A>G, XM_047425712.1:c.2434A>G, XM_047425715.1:c.2434A>G, XM_047425716.1:c.2434A>G, XM_047425721.1:c.2407A>G, XM_047425720.1:c.2407A>G, NP_064590.2:p.Lys803Glu, XP_011508086.1:p.Lys812Glu, XP_011508087.1:p.Lys812Glu, XP_011508090.1:p.Lys733Glu, XP_011508084.1:p.Lys812Glu, XP_016857339.1:p.Lys724Glu, XP_047281673.1:p.Lys803Glu, XP_047281668.1:p.Lys812Glu, XP_047281671.1:p.Lys812Glu, XP_047281672.1:p.Lys812Glu, XP_047281677.1:p.Lys803Glu, XP_047281676.1:p.Lys803Glu

                              15.

                              rs1431367784 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:149944714 (GRCh38)
                                1:149916613 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:149944713:A:G
                                Gene:
                                OTUD7B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.149944714A>G, NW_003871055.3:g.6760127A>G, NC_000001.10:g.149916613A>G, NM_020205.4:c.1675T>C, NM_020205.3:c.1675T>C, XM_011509784.4:c.1702T>C, XM_011509784.3:c.1702T>C, XM_011509784.2:c.1702T>C, XM_011509784.1:c.1702T>C, XM_011509785.3:c.1702T>C, XM_011509785.2:c.1702T>C, XM_011509785.1:c.1702T>C, XM_011509788.3:c.1465T>C, XM_011509788.2:c.1465T>C, XM_011509788.1:c.1465T>C, XM_011509782.2:c.1702T>C, XM_011509782.1:c.1702T>C, XM_017001850.2:c.1438T>C, XM_017001850.1:c.1438T>C, XM_047425717.1:c.1675T>C, XM_047425712.1:c.1702T>C, XM_047425715.1:c.1702T>C, XM_047425716.1:c.1702T>C, XM_047425721.1:c.1675T>C, XM_047425720.1:c.1675T>C, NP_064590.2:p.Trp559Arg, XP_011508086.1:p.Trp568Arg, XP_011508087.1:p.Trp568Arg, XP_011508090.1:p.Trp489Arg, XP_011508084.1:p.Trp568Arg, XP_016857339.1:p.Trp480Arg, XP_047281673.1:p.Trp559Arg, XP_047281668.1:p.Trp568Arg, XP_047281671.1:p.Trp568Arg, XP_047281672.1:p.Trp568Arg, XP_047281677.1:p.Trp559Arg, XP_047281676.1:p.Trp559Arg

                                16.

                                rs1429774769 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  1:149944627 (GRCh38)
                                  1:149916526 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:149944626:A:C
                                  Gene:
                                  OTUD7B (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000019/5 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.149944627A>C, NW_003871055.3:g.6760040A>C, NC_000001.10:g.149916526A>C, NM_020205.4:c.1762T>G, NM_020205.3:c.1762T>G, XM_011509784.4:c.1789T>G, XM_011509784.3:c.1789T>G, XM_011509784.2:c.1789T>G, XM_011509784.1:c.1789T>G, XM_011509785.3:c.1789T>G, XM_011509785.2:c.1789T>G, XM_011509785.1:c.1789T>G, XM_011509788.3:c.1552T>G, XM_011509788.2:c.1552T>G, XM_011509788.1:c.1552T>G, XM_011509782.2:c.1789T>G, XM_011509782.1:c.1789T>G, XM_017001850.2:c.1525T>G, XM_017001850.1:c.1525T>G, XM_047425717.1:c.1762T>G, XM_047425712.1:c.1789T>G, XM_047425715.1:c.1789T>G, XM_047425716.1:c.1789T>G, XM_047425721.1:c.1762T>G, XM_047425720.1:c.1762T>G, NP_064590.2:p.Tyr588Asp, XP_011508086.1:p.Tyr597Asp, XP_011508087.1:p.Tyr597Asp, XP_011508090.1:p.Tyr518Asp, XP_011508084.1:p.Tyr597Asp, XP_016857339.1:p.Tyr509Asp, XP_047281673.1:p.Tyr588Asp, XP_047281668.1:p.Tyr597Asp, XP_047281671.1:p.Tyr597Asp, XP_047281672.1:p.Tyr597Asp, XP_047281677.1:p.Tyr588Asp, XP_047281676.1:p.Tyr588Asp

                                  17.

                                  rs1424525972 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:149944237 (GRCh38)
                                    1:149916136 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:149944236:C:A
                                    Gene:
                                    OTUD7B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.149944237C>A, NW_003871055.3:g.6759650C>A, NC_000001.10:g.149916136C>A, NM_020205.4:c.2152G>T, NM_020205.3:c.2152G>T, XM_011509784.4:c.2179G>T, XM_011509784.3:c.2179G>T, XM_011509784.2:c.2179G>T, XM_011509784.1:c.2179G>T, XM_011509785.3:c.2179G>T, XM_011509785.2:c.2179G>T, XM_011509785.1:c.2179G>T, XM_011509788.3:c.1942G>T, XM_011509788.2:c.1942G>T, XM_011509788.1:c.1942G>T, XM_011509782.2:c.2179G>T, XM_011509782.1:c.2179G>T, XM_017001850.2:c.1915G>T, XM_017001850.1:c.1915G>T, XM_047425717.1:c.2152G>T, XM_047425712.1:c.2179G>T, XM_047425715.1:c.2179G>T, XM_047425716.1:c.2179G>T, XM_047425721.1:c.2152G>T, XM_047425720.1:c.2152G>T, NP_064590.2:p.Gly718Cys, XP_011508086.1:p.Gly727Cys, XP_011508087.1:p.Gly727Cys, XP_011508090.1:p.Gly648Cys, XP_011508084.1:p.Gly727Cys, XP_016857339.1:p.Gly639Cys, XP_047281673.1:p.Gly718Cys, XP_047281668.1:p.Gly727Cys, XP_047281671.1:p.Gly727Cys, XP_047281672.1:p.Gly727Cys, XP_047281677.1:p.Gly718Cys, XP_047281676.1:p.Gly718Cys

                                    18.

                                    rs1424071027 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:149971221 (GRCh38)
                                      1:149943149 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:149971220:C:G
                                      Gene:
                                      OTUD7B (Varview)
                                      Functional Consequence:
                                      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_000001.11:g.149971221C>G, NW_003871055.3:g.6786634C>G, NC_000001.10:g.149943149C>G, NM_020205.4:c.116G>C, NM_020205.3:c.116G>C, XM_011509784.4:c.116G>C, XM_011509784.3:c.116G>C, XM_011509784.2:c.116G>C, XM_011509784.1:c.116G>C, XM_011509785.3:c.116G>C, XM_011509785.2:c.116G>C, XM_011509785.1:c.116G>C, XM_011509788.3:c.13G>C, XM_011509788.2:c.13G>C, XM_011509788.1:c.13G>C, XM_011509782.2:c.116G>C, XM_011509782.1:c.116G>C, XM_017001850.2:c.13G>C, XM_017001850.1:c.13G>C, XM_047425717.1:c.116G>C, XM_047425712.1:c.116G>C, XM_047425715.1:c.116G>C, XM_047425716.1:c.116G>C, XM_047425721.1:c.116G>C, XM_047425720.1:c.116G>C, NP_064590.2:p.Ser39Thr, XP_011508086.1:p.Ser39Thr, XP_011508087.1:p.Ser39Thr, XP_011508090.1:p.Val5Leu, XP_011508084.1:p.Ser39Thr, XP_016857339.1:p.Val5Leu, XP_047281673.1:p.Ser39Thr, XP_047281668.1:p.Ser39Thr, XP_047281671.1:p.Ser39Thr, XP_047281672.1:p.Ser39Thr, XP_047281677.1:p.Ser39Thr, XP_047281676.1:p.Ser39Thr

                                      19.

                                      rs1421090981 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:149944910 (GRCh38)
                                        1:149916809 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:149944909:C:T
                                        Gene:
                                        OTUD7B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1417448698 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:149949709 (GRCh38)
                                          1:149921612 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:149949708:G:A
                                          Gene:
                                          OTUD7B (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.149949709G>A, NW_003871055.3:g.6765122G>A, NC_000001.10:g.149921612G>A, NM_020205.4:c.1043C>T, NM_020205.3:c.1043C>T, XM_011509784.4:c.1043C>T, XM_011509784.3:c.1043C>T, XM_011509784.2:c.1043C>T, XM_011509784.1:c.1043C>T, XM_011509785.3:c.1043C>T, XM_011509785.2:c.1043C>T, XM_011509785.1:c.1043C>T, XM_011509788.3:c.806C>T, XM_011509788.2:c.806C>T, XM_011509788.1:c.806C>T, XM_011509782.2:c.1043C>T, XM_011509782.1:c.1043C>T, XM_017001850.2:c.806C>T, XM_017001850.1:c.806C>T, XM_047425717.1:c.1043C>T, XM_047425712.1:c.1043C>T, XM_047425715.1:c.1043C>T, XM_047425716.1:c.1043C>T, XM_047425721.1:c.1043C>T, XM_047425720.1:c.1043C>T, NP_064590.2:p.Ser348Phe, XP_011508086.1:p.Ser348Phe, XP_011508087.1:p.Ser348Phe, XP_011508090.1:p.Ser269Phe, XP_011508084.1:p.Ser348Phe, XP_016857339.1:p.Ser269Phe, XP_047281673.1:p.Ser348Phe, XP_047281668.1:p.Ser348Phe, XP_047281671.1:p.Ser348Phe, XP_047281672.1:p.Ser348Phe, XP_047281677.1:p.Ser348Phe, XP_047281676.1:p.Ser348Phe

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