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Items: 1 to 20 of 553

1.

rs1490687427 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    11:96383436 (GRCh38)
    11:96116600 (GRCh37)
    Canonical SPDI:
    NC_000011.10:96383435:A:G,NC_000011.10:96383435:A:T
    Gene:
    CCDC82 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000028/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.96383436A>G, NC_000011.10:g.96383436A>T, NC_000011.9:g.96116600A>G, NC_000011.9:g.96116600A>T, XM_011542984.4:c.824T>C, XM_011542984.4:c.824T>A, XM_011542984.3:c.824T>C, XM_011542984.3:c.824T>A, XM_011542984.2:c.824T>C, XM_011542984.2:c.824T>A, XM_011542984.1:c.824T>C, XM_011542984.1:c.824T>A, XM_011542987.4:c.824T>C, XM_011542987.4:c.824T>A, XM_011542987.3:c.824T>C, XM_011542987.3:c.824T>A, XM_011542987.2:c.824T>C, XM_011542987.2:c.824T>A, XM_011542987.1:c.824T>C, XM_011542987.1:c.824T>A, NM_024725.4:c.824T>C, NM_024725.4:c.824T>A, NM_024725.3:c.824T>C, NM_024725.3:c.824T>A, XM_011542988.4:c.824T>C, XM_011542988.4:c.824T>A, XM_011542988.3:c.824T>C, XM_011542988.3:c.824T>A, XM_011542988.2:c.824T>C, XM_011542988.2:c.824T>A, XM_011542988.1:c.824T>C, XM_011542988.1:c.824T>A, XM_005274292.4:c.824T>C, XM_005274292.4:c.824T>A, XM_005274292.3:c.824T>C, XM_005274292.3:c.824T>A, XM_005274292.2:c.824T>C, XM_005274292.2:c.824T>A, XM_005274292.1:c.824T>C, XM_005274292.1:c.824T>A, NM_001318737.3:c.824T>C, NM_001318737.3:c.824T>A, NM_001318737.2:c.824T>C, NM_001318737.2:c.824T>A, NM_001318737.1:c.824T>C, NM_001318737.1:c.824T>A, XM_024448693.2:c.824T>C, XM_024448693.2:c.824T>A, XM_024448693.1:c.824T>C, XM_024448693.1:c.824T>A, XM_017018310.2:c.824T>C, XM_017018310.2:c.824T>A, XM_017018310.1:c.824T>C, XM_017018310.1:c.824T>A, NM_001363594.2:c.755T>C, NM_001363594.2:c.755T>A, NM_001363594.1:c.755T>C, NM_001363594.1:c.755T>A, XM_017018307.2:c.824T>C, XM_017018307.2:c.824T>A, XM_017018307.1:c.824T>C, XM_017018307.1:c.824T>A, XM_024448690.2:c.824T>C, XM_024448690.2:c.824T>A, XM_024448690.1:c.824T>C, XM_024448690.1:c.824T>A, NM_001318736.2:c.824T>C, NM_001318736.2:c.824T>A, NM_001318736.1:c.824T>C, NM_001318736.1:c.824T>A, XM_047427607.1:c.824T>C, XM_047427607.1:c.824T>A, XM_047427606.1:c.824T>C, XM_047427606.1:c.824T>A, XM_047427604.1:c.824T>C, XM_047427604.1:c.824T>A, XM_047427602.1:c.824T>C, XM_047427602.1:c.824T>A, XM_047427603.1:c.824T>C, XM_047427603.1:c.824T>A, XM_047427605.1:c.824T>C, XM_047427605.1:c.824T>A, XP_011541286.1:p.Val275Ala, XP_011541286.1:p.Val275Asp, XP_011541289.1:p.Val275Ala, XP_011541289.1:p.Val275Asp, NP_079001.2:p.Val275Ala, NP_079001.2:p.Val275Asp, XP_011541290.1:p.Val275Ala, XP_011541290.1:p.Val275Asp, XP_005274349.1:p.Val275Ala, XP_005274349.1:p.Val275Asp, NP_001305666.1:p.Val275Ala, NP_001305666.1:p.Val275Asp, XP_024304461.1:p.Val275Ala, XP_024304461.1:p.Val275Asp, XP_016873799.1:p.Val275Ala, XP_016873799.1:p.Val275Asp, NP_001350523.1:p.Val252Ala, NP_001350523.1:p.Val252Asp, XP_016873796.1:p.Val275Ala, XP_016873796.1:p.Val275Asp, XP_024304458.1:p.Val275Ala, XP_024304458.1:p.Val275Asp, NP_001305665.1:p.Val275Ala, NP_001305665.1:p.Val275Asp, XP_047283563.1:p.Val275Ala, XP_047283563.1:p.Val275Asp, XP_047283562.1:p.Val275Ala, XP_047283562.1:p.Val275Asp, XP_047283560.1:p.Val275Ala, XP_047283560.1:p.Val275Asp, XP_047283558.1:p.Val275Ala, XP_047283558.1:p.Val275Asp, XP_047283559.1:p.Val275Ala, XP_047283559.1:p.Val275Asp, XP_047283561.1:p.Val275Ala, XP_047283561.1:p.Val275Asp

    2.

    rs1489889728 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:96384661 (GRCh38)
      11:96117825 (GRCh37)
      Canonical SPDI:
      NC_000011.10:96384660:A:G
      Gene:
      CCDC82 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.96384661A>G, NC_000011.9:g.96117825A>G, XM_011542984.4:c.87T>C, XM_011542984.3:c.87T>C, XM_011542984.2:c.87T>C, XM_011542984.1:c.87T>C, XM_011542987.4:c.87T>C, XM_011542987.3:c.87T>C, XM_011542987.2:c.87T>C, XM_011542987.1:c.87T>C, NM_024725.4:c.87T>C, NM_024725.3:c.87T>C, XM_011542988.4:c.87T>C, XM_011542988.3:c.87T>C, XM_011542988.2:c.87T>C, XM_011542988.1:c.87T>C, XM_005274292.4:c.87T>C, XM_005274292.3:c.87T>C, XM_005274292.2:c.87T>C, XM_005274292.1:c.87T>C, NM_001318737.3:c.87T>C, NM_001318737.2:c.87T>C, NM_001318737.1:c.87T>C, XM_024448693.2:c.87T>C, XM_024448693.1:c.87T>C, XM_017018310.2:c.87T>C, XM_017018310.1:c.87T>C, NM_001363594.2:c.87T>C, NM_001363594.1:c.87T>C, XM_017018307.2:c.87T>C, XM_017018307.1:c.87T>C, XM_024448690.2:c.87T>C, XM_024448690.1:c.87T>C, NM_001318736.2:c.87T>C, NM_001318736.1:c.87T>C, XM_047427607.1:c.87T>C, XM_047427606.1:c.87T>C, XM_047427604.1:c.87T>C, XM_047427602.1:c.87T>C, XM_047427603.1:c.87T>C, XM_047427605.1:c.87T>C

      3.

      rs1487986304 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:96373453 (GRCh38)
        11:96106617 (GRCh37)
        Canonical SPDI:
        NC_000011.10:96373452:G:A
        Gene:
        CCDC82 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000036/5 (GnomAD)
        HGVS:
        NC_000011.10:g.96373453G>A, NC_000011.9:g.96106617G>A, XM_011542984.4:c.1006C>T, XM_011542984.3:c.1006C>T, XM_011542984.2:c.1006C>T, XM_011542984.1:c.1006C>T, XM_011542987.4:c.1006C>T, XM_011542987.3:c.1006C>T, XM_011542987.2:c.1006C>T, XM_011542987.1:c.1006C>T, NM_024725.4:c.1006C>T, NM_024725.3:c.1006C>T, XM_011542988.4:c.1006C>T, XM_011542988.3:c.1006C>T, XM_011542988.2:c.1006C>T, XM_011542988.1:c.1006C>T, XM_005274292.4:c.1006C>T, XM_005274292.3:c.1006C>T, XM_005274292.2:c.1006C>T, XM_005274292.1:c.1006C>T, XM_024448693.2:c.1006C>T, XM_024448693.1:c.1006C>T, XM_017018310.2:c.1006C>T, XM_017018310.1:c.1006C>T, NM_001363594.2:c.937C>T, NM_001363594.1:c.937C>T, XM_017018307.2:c.1006C>T, XM_017018307.1:c.1006C>T, XM_024448690.2:c.1006C>T, XM_024448690.1:c.1006C>T, NM_001318736.2:c.1006C>T, NM_001318736.1:c.1006C>T, XM_047427607.1:c.1006C>T, XM_047427606.1:c.1006C>T, XM_047427604.1:c.1006C>T, XM_047427602.1:c.1006C>T, XM_047427603.1:c.1006C>T, XM_047427605.1:c.1006C>T, XP_011541286.1:p.His336Tyr, XP_011541289.1:p.His336Tyr, NP_079001.2:p.His336Tyr, XP_011541290.1:p.His336Tyr, XP_005274349.1:p.His336Tyr, XP_024304461.1:p.His336Tyr, XP_016873799.1:p.His336Tyr, NP_001350523.1:p.His313Tyr, XP_016873796.1:p.His336Tyr, XP_024304458.1:p.His336Tyr, NP_001305665.1:p.His336Tyr, XP_047283563.1:p.His336Tyr, XP_047283562.1:p.His336Tyr, XP_047283560.1:p.His336Tyr, XP_047283558.1:p.His336Tyr, XP_047283559.1:p.His336Tyr, XP_047283561.1:p.His336Tyr

        4.

        rs1487688233 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:96359023 (GRCh38)
          11:96092187 (GRCh37)
          Canonical SPDI:
          NC_000011.10:96359022:C:T
          Gene:
          CCDC82 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.96359023C>T, NC_000011.9:g.96092187C>T, XM_011542984.4:c.1536G>A, XM_011542984.3:c.1536G>A, XM_011542984.2:c.1536G>A, XM_011542984.1:c.1536G>A, XM_011542987.4:c.1536G>A, XM_011542987.3:c.1536G>A, XM_011542987.2:c.1536G>A, XM_011542987.1:c.1536G>A, NM_024725.4:c.1536G>A, NM_024725.3:c.1536G>A, XM_011542988.4:c.1536G>A, XM_011542988.3:c.1536G>A, XM_011542988.2:c.1536G>A, XM_011542988.1:c.1536G>A, XM_005274292.4:c.1536G>A, XM_005274292.3:c.1536G>A, XM_005274292.2:c.1536G>A, XM_005274292.1:c.1536G>A, XM_024448693.2:c.1536G>A, XM_024448693.1:c.1536G>A, XM_017018310.2:c.1536G>A, XM_017018310.1:c.1536G>A, NM_001363594.2:c.1467G>A, NM_001363594.1:c.1467G>A, XM_017018307.2:c.1536G>A, XM_017018307.1:c.1536G>A, XM_024448690.2:c.1536G>A, XM_024448690.1:c.1536G>A, NM_001318736.2:c.1536G>A, NM_001318736.1:c.1536G>A, XM_047427607.1:c.1536G>A, XM_047427606.1:c.1536G>A, XM_047427604.1:c.1536G>A, XM_047427602.1:c.1536G>A, XM_047427603.1:c.1536G>A, XM_047427605.1:c.1536G>A

          5.

          rs1483926840 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:96364997 (GRCh38)
            11:96098161 (GRCh37)
            Canonical SPDI:
            NC_000011.10:96364996:T:C
            Gene:
            CCDC82 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000011.10:g.96364997T>C, NC_000011.9:g.96098161T>C, XM_011542984.4:c.1363A>G, XM_011542984.3:c.1363A>G, XM_011542984.2:c.1363A>G, XM_011542984.1:c.1363A>G, XM_011542987.4:c.1363A>G, XM_011542987.3:c.1363A>G, XM_011542987.2:c.1363A>G, XM_011542987.1:c.1363A>G, NM_024725.4:c.1363A>G, NM_024725.3:c.1363A>G, XM_011542988.4:c.1363A>G, XM_011542988.3:c.1363A>G, XM_011542988.2:c.1363A>G, XM_011542988.1:c.1363A>G, XM_005274292.4:c.1363A>G, XM_005274292.3:c.1363A>G, XM_005274292.2:c.1363A>G, XM_005274292.1:c.1363A>G, XM_024448693.2:c.1363A>G, XM_024448693.1:c.1363A>G, XM_017018310.2:c.1363A>G, XM_017018310.1:c.1363A>G, NM_001363594.2:c.1294A>G, NM_001363594.1:c.1294A>G, XM_017018307.2:c.1363A>G, XM_017018307.1:c.1363A>G, XM_024448690.2:c.1363A>G, XM_024448690.1:c.1363A>G, NM_001318736.2:c.1363A>G, NM_001318736.1:c.1363A>G, XM_047427607.1:c.1363A>G, XM_047427606.1:c.1363A>G, XM_047427604.1:c.1363A>G, XM_047427602.1:c.1363A>G, XM_047427603.1:c.1363A>G, XM_047427605.1:c.1363A>G, XP_011541286.1:p.Met455Val, XP_011541289.1:p.Met455Val, NP_079001.2:p.Met455Val, XP_011541290.1:p.Met455Val, XP_005274349.1:p.Met455Val, XP_024304461.1:p.Met455Val, XP_016873799.1:p.Met455Val, NP_001350523.1:p.Met432Val, XP_016873796.1:p.Met455Val, XP_024304458.1:p.Met455Val, NP_001305665.1:p.Met455Val, XP_047283563.1:p.Met455Val, XP_047283562.1:p.Met455Val, XP_047283560.1:p.Met455Val, XP_047283558.1:p.Met455Val, XP_047283559.1:p.Met455Val, XP_047283561.1:p.Met455Val

            6.

            rs1482275897 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              11:96383434 (GRCh38)
              11:96116598 (GRCh37)
              Canonical SPDI:
              NC_000011.10:96383433:C:G
              Gene:
              CCDC82 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000011/3 (TOPMED)
              HGVS:
              NC_000011.10:g.96383434C>G, NC_000011.9:g.96116598C>G, XM_011542984.4:c.826G>C, XM_011542984.3:c.826G>C, XM_011542984.2:c.826G>C, XM_011542984.1:c.826G>C, XM_011542987.4:c.826G>C, XM_011542987.3:c.826G>C, XM_011542987.2:c.826G>C, XM_011542987.1:c.826G>C, NM_024725.4:c.826G>C, NM_024725.3:c.826G>C, XM_011542988.4:c.826G>C, XM_011542988.3:c.826G>C, XM_011542988.2:c.826G>C, XM_011542988.1:c.826G>C, XM_005274292.4:c.826G>C, XM_005274292.3:c.826G>C, XM_005274292.2:c.826G>C, XM_005274292.1:c.826G>C, NM_001318737.3:c.826G>C, NM_001318737.2:c.826G>C, NM_001318737.1:c.826G>C, XM_024448693.2:c.826G>C, XM_024448693.1:c.826G>C, XM_017018310.2:c.826G>C, XM_017018310.1:c.826G>C, NM_001363594.2:c.757G>C, NM_001363594.1:c.757G>C, XM_017018307.2:c.826G>C, XM_017018307.1:c.826G>C, XM_024448690.2:c.826G>C, XM_024448690.1:c.826G>C, NM_001318736.2:c.826G>C, NM_001318736.1:c.826G>C, XM_047427607.1:c.826G>C, XM_047427606.1:c.826G>C, XM_047427604.1:c.826G>C, XM_047427602.1:c.826G>C, XM_047427603.1:c.826G>C, XM_047427605.1:c.826G>C, XP_011541286.1:p.Asp276His, XP_011541289.1:p.Asp276His, NP_079001.2:p.Asp276His, XP_011541290.1:p.Asp276His, XP_005274349.1:p.Asp276His, NP_001305666.1:p.Asp276His, XP_024304461.1:p.Asp276His, XP_016873799.1:p.Asp276His, NP_001350523.1:p.Asp253His, XP_016873796.1:p.Asp276His, XP_024304458.1:p.Asp276His, NP_001305665.1:p.Asp276His, XP_047283563.1:p.Asp276His, XP_047283562.1:p.Asp276His, XP_047283560.1:p.Asp276His, XP_047283558.1:p.Asp276His, XP_047283559.1:p.Asp276His, XP_047283561.1:p.Asp276His

              7.

              rs1481624581 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTC>- [Show Flanks]
                Chromosome:
                11:96384553 (GRCh38)
                11:96117717 (GRCh37)
                Canonical SPDI:
                NC_000011.10:96384550:TCTTC:TC
                Gene:
                CCDC82 (Varview)
                Functional Consequence:
                inframe_deletion,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TC=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.96384553_96384555del, NC_000011.9:g.96117717_96117719del, XM_011542984.4:c.195_197del, XM_011542984.3:c.195_197del, XM_011542984.2:c.195_197del, XM_011542984.1:c.195_197del, XM_011542987.4:c.195_197del, XM_011542987.3:c.195_197del, XM_011542987.2:c.195_197del, XM_011542987.1:c.195_197del, NM_024725.4:c.195_197del, NM_024725.3:c.195_197del, XM_011542988.4:c.195_197del, XM_011542988.3:c.195_197del, XM_011542988.2:c.195_197del, XM_011542988.1:c.195_197del, XM_005274292.4:c.195_197del, XM_005274292.3:c.195_197del, XM_005274292.2:c.195_197del, XM_005274292.1:c.195_197del, NM_001318737.3:c.195_197del, NM_001318737.2:c.195_197del, NM_001318737.1:c.195_197del, XM_024448693.2:c.195_197del, XM_024448693.1:c.195_197del, XM_017018310.2:c.195_197del, XM_017018310.1:c.195_197del, NM_001363594.2:c.195_197del, NM_001363594.1:c.195_197del, XM_017018307.2:c.195_197del, XM_017018307.1:c.195_197del, XM_024448690.2:c.195_197del, XM_024448690.1:c.195_197del, NM_001318736.2:c.195_197del, NM_001318736.1:c.195_197del, XM_047427607.1:c.195_197del, XM_047427606.1:c.195_197del, XM_047427604.1:c.195_197del, XM_047427602.1:c.195_197del, XM_047427603.1:c.195_197del, XM_047427605.1:c.195_197del, XP_011541286.1:p.Glu66del, XP_011541289.1:p.Glu66del, NP_079001.2:p.Glu66del, XP_011541290.1:p.Glu66del, XP_005274349.1:p.Glu66del, NP_001305666.1:p.Glu66del, XP_024304461.1:p.Glu66del, XP_016873799.1:p.Glu66del, NP_001350523.1:p.Glu66del, XP_016873796.1:p.Glu66del, XP_024304458.1:p.Glu66del, NP_001305665.1:p.Glu66del, XP_047283563.1:p.Glu66del, XP_047283562.1:p.Glu66del, XP_047283560.1:p.Glu66del, XP_047283558.1:p.Glu66del, XP_047283559.1:p.Glu66del, XP_047283561.1:p.Glu66del

                8.

                rs1480084121 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  11:96383470 (GRCh38)
                  11:96116634 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:96383469:A:C
                  Gene:
                  CCDC82 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000011.10:g.96383470A>C, NC_000011.9:g.96116634A>C, XM_011542984.4:c.790T>G, XM_011542984.3:c.790T>G, XM_011542984.2:c.790T>G, XM_011542984.1:c.790T>G, XM_011542987.4:c.790T>G, XM_011542987.3:c.790T>G, XM_011542987.2:c.790T>G, XM_011542987.1:c.790T>G, NM_024725.4:c.790T>G, NM_024725.3:c.790T>G, XM_011542988.4:c.790T>G, XM_011542988.3:c.790T>G, XM_011542988.2:c.790T>G, XM_011542988.1:c.790T>G, XM_005274292.4:c.790T>G, XM_005274292.3:c.790T>G, XM_005274292.2:c.790T>G, XM_005274292.1:c.790T>G, NM_001318737.3:c.790T>G, NM_001318737.2:c.790T>G, NM_001318737.1:c.790T>G, XM_024448693.2:c.790T>G, XM_024448693.1:c.790T>G, XM_017018310.2:c.790T>G, XM_017018310.1:c.790T>G, NM_001363594.2:c.721T>G, NM_001363594.1:c.721T>G, XM_017018307.2:c.790T>G, XM_017018307.1:c.790T>G, XM_024448690.2:c.790T>G, XM_024448690.1:c.790T>G, NM_001318736.2:c.790T>G, NM_001318736.1:c.790T>G, XM_047427607.1:c.790T>G, XM_047427606.1:c.790T>G, XM_047427604.1:c.790T>G, XM_047427602.1:c.790T>G, XM_047427603.1:c.790T>G, XM_047427605.1:c.790T>G, XP_011541286.1:p.Ser264Ala, XP_011541289.1:p.Ser264Ala, NP_079001.2:p.Ser264Ala, XP_011541290.1:p.Ser264Ala, XP_005274349.1:p.Ser264Ala, NP_001305666.1:p.Ser264Ala, XP_024304461.1:p.Ser264Ala, XP_016873799.1:p.Ser264Ala, NP_001350523.1:p.Ser241Ala, XP_016873796.1:p.Ser264Ala, XP_024304458.1:p.Ser264Ala, NP_001305665.1:p.Ser264Ala, XP_047283563.1:p.Ser264Ala, XP_047283562.1:p.Ser264Ala, XP_047283560.1:p.Ser264Ala, XP_047283558.1:p.Ser264Ala, XP_047283559.1:p.Ser264Ala, XP_047283561.1:p.Ser264Ala

                  9.

                  rs1480063984 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    11:96384390 (GRCh38)
                    11:96117554 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:96384389:T:A,NC_000011.10:96384389:T:C
                    Gene:
                    CCDC82 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.96384390T>A, NC_000011.10:g.96384390T>C, NC_000011.9:g.96117554T>A, NC_000011.9:g.96117554T>C, XM_011542984.4:c.358A>T, XM_011542984.4:c.358A>G, XM_011542984.3:c.358A>T, XM_011542984.3:c.358A>G, XM_011542984.2:c.358A>T, XM_011542984.2:c.358A>G, XM_011542984.1:c.358A>T, XM_011542984.1:c.358A>G, XM_011542987.4:c.358A>T, XM_011542987.4:c.358A>G, XM_011542987.3:c.358A>T, XM_011542987.3:c.358A>G, XM_011542987.2:c.358A>T, XM_011542987.2:c.358A>G, XM_011542987.1:c.358A>T, XM_011542987.1:c.358A>G, NM_024725.4:c.358A>T, NM_024725.4:c.358A>G, NM_024725.3:c.358A>T, NM_024725.3:c.358A>G, XM_011542988.4:c.358A>T, XM_011542988.4:c.358A>G, XM_011542988.3:c.358A>T, XM_011542988.3:c.358A>G, XM_011542988.2:c.358A>T, XM_011542988.2:c.358A>G, XM_011542988.1:c.358A>T, XM_011542988.1:c.358A>G, XM_005274292.4:c.358A>T, XM_005274292.4:c.358A>G, XM_005274292.3:c.358A>T, XM_005274292.3:c.358A>G, XM_005274292.2:c.358A>T, XM_005274292.2:c.358A>G, XM_005274292.1:c.358A>T, XM_005274292.1:c.358A>G, NM_001318737.3:c.358A>T, NM_001318737.3:c.358A>G, NM_001318737.2:c.358A>T, NM_001318737.2:c.358A>G, NM_001318737.1:c.358A>T, NM_001318737.1:c.358A>G, XM_024448693.2:c.358A>T, XM_024448693.2:c.358A>G, XM_024448693.1:c.358A>T, XM_024448693.1:c.358A>G, XM_017018310.2:c.358A>T, XM_017018310.2:c.358A>G, XM_017018310.1:c.358A>T, XM_017018310.1:c.358A>G, NM_001363594.2:c.358A>T, NM_001363594.2:c.358A>G, NM_001363594.1:c.358A>T, NM_001363594.1:c.358A>G, XM_017018307.2:c.358A>T, XM_017018307.2:c.358A>G, XM_017018307.1:c.358A>T, XM_017018307.1:c.358A>G, XM_024448690.2:c.358A>T, XM_024448690.2:c.358A>G, XM_024448690.1:c.358A>T, XM_024448690.1:c.358A>G, NM_001318736.2:c.358A>T, NM_001318736.2:c.358A>G, NM_001318736.1:c.358A>T, NM_001318736.1:c.358A>G, XM_047427607.1:c.358A>T, XM_047427607.1:c.358A>G, XM_047427606.1:c.358A>T, XM_047427606.1:c.358A>G, XM_047427604.1:c.358A>T, XM_047427604.1:c.358A>G, XM_047427602.1:c.358A>T, XM_047427602.1:c.358A>G, XM_047427603.1:c.358A>T, XM_047427603.1:c.358A>G, XM_047427605.1:c.358A>T, XM_047427605.1:c.358A>G, XP_011541286.1:p.Asn120Tyr, XP_011541286.1:p.Asn120Asp, XP_011541289.1:p.Asn120Tyr, XP_011541289.1:p.Asn120Asp, NP_079001.2:p.Asn120Tyr, NP_079001.2:p.Asn120Asp, XP_011541290.1:p.Asn120Tyr, XP_011541290.1:p.Asn120Asp, XP_005274349.1:p.Asn120Tyr, XP_005274349.1:p.Asn120Asp, NP_001305666.1:p.Asn120Tyr, NP_001305666.1:p.Asn120Asp, XP_024304461.1:p.Asn120Tyr, XP_024304461.1:p.Asn120Asp, XP_016873799.1:p.Asn120Tyr, XP_016873799.1:p.Asn120Asp, NP_001350523.1:p.Asn120Tyr, NP_001350523.1:p.Asn120Asp, XP_016873796.1:p.Asn120Tyr, XP_016873796.1:p.Asn120Asp, XP_024304458.1:p.Asn120Tyr, XP_024304458.1:p.Asn120Asp, NP_001305665.1:p.Asn120Tyr, NP_001305665.1:p.Asn120Asp, XP_047283563.1:p.Asn120Tyr, XP_047283563.1:p.Asn120Asp, XP_047283562.1:p.Asn120Tyr, XP_047283562.1:p.Asn120Asp, XP_047283560.1:p.Asn120Tyr, XP_047283560.1:p.Asn120Asp, XP_047283558.1:p.Asn120Tyr, XP_047283558.1:p.Asn120Asp, XP_047283559.1:p.Asn120Tyr, XP_047283559.1:p.Asn120Asp, XP_047283561.1:p.Asn120Tyr, XP_047283561.1:p.Asn120Asp

                    10.

                    rs1478756839 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:96365120 (GRCh38)
                      11:96098284 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:96365119:T:C
                      Gene:
                      CCDC82 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.96365120T>C, NC_000011.9:g.96098284T>C, XM_011542984.4:c.1240A>G, XM_011542984.3:c.1240A>G, XM_011542984.2:c.1240A>G, XM_011542984.1:c.1240A>G, XM_011542987.4:c.1240A>G, XM_011542987.3:c.1240A>G, XM_011542987.2:c.1240A>G, XM_011542987.1:c.1240A>G, NM_024725.4:c.1240A>G, NM_024725.3:c.1240A>G, XM_011542988.4:c.1240A>G, XM_011542988.3:c.1240A>G, XM_011542988.2:c.1240A>G, XM_011542988.1:c.1240A>G, XM_005274292.4:c.1240A>G, XM_005274292.3:c.1240A>G, XM_005274292.2:c.1240A>G, XM_005274292.1:c.1240A>G, XM_024448693.2:c.1240A>G, XM_024448693.1:c.1240A>G, XM_017018310.2:c.1240A>G, XM_017018310.1:c.1240A>G, NM_001363594.2:c.1171A>G, NM_001363594.1:c.1171A>G, XM_017018307.2:c.1240A>G, XM_017018307.1:c.1240A>G, XM_024448690.2:c.1240A>G, XM_024448690.1:c.1240A>G, NM_001318736.2:c.1240A>G, NM_001318736.1:c.1240A>G, XM_047427607.1:c.1240A>G, XM_047427606.1:c.1240A>G, XM_047427604.1:c.1240A>G, XM_047427602.1:c.1240A>G, XM_047427603.1:c.1240A>G, XM_047427605.1:c.1240A>G, XP_011541286.1:p.Ile414Val, XP_011541289.1:p.Ile414Val, NP_079001.2:p.Ile414Val, XP_011541290.1:p.Ile414Val, XP_005274349.1:p.Ile414Val, XP_024304461.1:p.Ile414Val, XP_016873799.1:p.Ile414Val, NP_001350523.1:p.Ile391Val, XP_016873796.1:p.Ile414Val, XP_024304458.1:p.Ile414Val, NP_001305665.1:p.Ile414Val, XP_047283563.1:p.Ile414Val, XP_047283562.1:p.Ile414Val, XP_047283560.1:p.Ile414Val, XP_047283558.1:p.Ile414Val, XP_047283559.1:p.Ile414Val, XP_047283561.1:p.Ile414Val

                      11.

                      rs1478491235 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:96383415 (GRCh38)
                        11:96116579 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:96383414:T:C
                        Gene:
                        CCDC82 (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_000011.10:g.96383415T>C, NC_000011.9:g.96116579T>C, XM_011542984.4:c.845A>G, XM_011542984.3:c.845A>G, XM_011542984.2:c.845A>G, XM_011542984.1:c.845A>G, XM_011542987.4:c.845A>G, XM_011542987.3:c.845A>G, XM_011542987.2:c.845A>G, XM_011542987.1:c.845A>G, NM_024725.4:c.845A>G, NM_024725.3:c.845A>G, XM_011542988.4:c.845A>G, XM_011542988.3:c.845A>G, XM_011542988.2:c.845A>G, XM_011542988.1:c.845A>G, XM_005274292.4:c.845A>G, XM_005274292.3:c.845A>G, XM_005274292.2:c.845A>G, XM_005274292.1:c.845A>G, NM_001318737.3:c.845A>G, NM_001318737.2:c.845A>G, NM_001318737.1:c.845A>G, XM_024448693.2:c.845A>G, XM_024448693.1:c.845A>G, XM_017018310.2:c.845A>G, XM_017018310.1:c.845A>G, NM_001363594.2:c.776A>G, NM_001363594.1:c.776A>G, XM_017018307.2:c.845A>G, XM_017018307.1:c.845A>G, XM_024448690.2:c.845A>G, XM_024448690.1:c.845A>G, NM_001318736.2:c.845A>G, NM_001318736.1:c.845A>G, XM_047427607.1:c.845A>G, XM_047427606.1:c.845A>G, XM_047427604.1:c.845A>G, XM_047427602.1:c.845A>G, XM_047427603.1:c.845A>G, XM_047427605.1:c.845A>G, XP_011541286.1:p.Asp282Gly, XP_011541289.1:p.Asp282Gly, NP_079001.2:p.Asp282Gly, XP_011541290.1:p.Asp282Gly, XP_005274349.1:p.Asp282Gly, NP_001305666.1:p.Asp282Gly, XP_024304461.1:p.Asp282Gly, XP_016873799.1:p.Asp282Gly, NP_001350523.1:p.Asp259Gly, XP_016873796.1:p.Asp282Gly, XP_024304458.1:p.Asp282Gly, NP_001305665.1:p.Asp282Gly, XP_047283563.1:p.Asp282Gly, XP_047283562.1:p.Asp282Gly, XP_047283560.1:p.Asp282Gly, XP_047283558.1:p.Asp282Gly, XP_047283559.1:p.Asp282Gly, XP_047283561.1:p.Asp282Gly

                        12.

                        rs1478167474 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          11:96359114 (GRCh38)
                          11:96092278 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:96359113:T:A
                          Gene:
                          CCDC82 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          HGVS:
                          NC_000011.10:g.96359114T>A, NC_000011.9:g.96092278T>A, XM_011542984.4:c.1445A>T, XM_011542984.3:c.1445A>T, XM_011542984.2:c.1445A>T, XM_011542984.1:c.1445A>T, XM_011542987.4:c.1445A>T, XM_011542987.3:c.1445A>T, XM_011542987.2:c.1445A>T, XM_011542987.1:c.1445A>T, NM_024725.4:c.1445A>T, NM_024725.3:c.1445A>T, XM_011542988.4:c.1445A>T, XM_011542988.3:c.1445A>T, XM_011542988.2:c.1445A>T, XM_011542988.1:c.1445A>T, XM_005274292.4:c.1445A>T, XM_005274292.3:c.1445A>T, XM_005274292.2:c.1445A>T, XM_005274292.1:c.1445A>T, XM_024448693.2:c.1445A>T, XM_024448693.1:c.1445A>T, XM_017018310.2:c.1445A>T, XM_017018310.1:c.1445A>T, NM_001363594.2:c.1376A>T, NM_001363594.1:c.1376A>T, XM_017018307.2:c.1445A>T, XM_017018307.1:c.1445A>T, XM_024448690.2:c.1445A>T, XM_024448690.1:c.1445A>T, NM_001318736.2:c.1445A>T, NM_001318736.1:c.1445A>T, XM_047427607.1:c.1445A>T, XM_047427606.1:c.1445A>T, XM_047427604.1:c.1445A>T, XM_047427602.1:c.1445A>T, XM_047427603.1:c.1445A>T, XM_047427605.1:c.1445A>T, XP_011541286.1:p.Lys482Ile, XP_011541289.1:p.Lys482Ile, NP_079001.2:p.Lys482Ile, XP_011541290.1:p.Lys482Ile, XP_005274349.1:p.Lys482Ile, XP_024304461.1:p.Lys482Ile, XP_016873799.1:p.Lys482Ile, NP_001350523.1:p.Lys459Ile, XP_016873796.1:p.Lys482Ile, XP_024304458.1:p.Lys482Ile, NP_001305665.1:p.Lys482Ile, XP_047283563.1:p.Lys482Ile, XP_047283562.1:p.Lys482Ile, XP_047283560.1:p.Lys482Ile, XP_047283558.1:p.Lys482Ile, XP_047283559.1:p.Lys482Ile, XP_047283561.1:p.Lys482Ile

                          13.

                          rs1473082317 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            11:96364986 (GRCh38)
                            11:96098150 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:96364985:A:G,NC_000011.10:96364985:A:T
                            Gene:
                            CCDC82 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000011.10:g.96364986A>G, NC_000011.10:g.96364986A>T, NC_000011.9:g.96098150A>G, NC_000011.9:g.96098150A>T, XM_011542984.4:c.1374T>C, XM_011542984.4:c.1374T>A, XM_011542984.3:c.1374T>C, XM_011542984.3:c.1374T>A, XM_011542984.2:c.1374T>C, XM_011542984.2:c.1374T>A, XM_011542984.1:c.1374T>C, XM_011542984.1:c.1374T>A, XM_011542987.4:c.1374T>C, XM_011542987.4:c.1374T>A, XM_011542987.3:c.1374T>C, XM_011542987.3:c.1374T>A, XM_011542987.2:c.1374T>C, XM_011542987.2:c.1374T>A, XM_011542987.1:c.1374T>C, XM_011542987.1:c.1374T>A, NM_024725.4:c.1374T>C, NM_024725.4:c.1374T>A, NM_024725.3:c.1374T>C, NM_024725.3:c.1374T>A, XM_011542988.4:c.1374T>C, XM_011542988.4:c.1374T>A, XM_011542988.3:c.1374T>C, XM_011542988.3:c.1374T>A, XM_011542988.2:c.1374T>C, XM_011542988.2:c.1374T>A, XM_011542988.1:c.1374T>C, XM_011542988.1:c.1374T>A, XM_005274292.4:c.1374T>C, XM_005274292.4:c.1374T>A, XM_005274292.3:c.1374T>C, XM_005274292.3:c.1374T>A, XM_005274292.2:c.1374T>C, XM_005274292.2:c.1374T>A, XM_005274292.1:c.1374T>C, XM_005274292.1:c.1374T>A, XM_024448693.2:c.1374T>C, XM_024448693.2:c.1374T>A, XM_024448693.1:c.1374T>C, XM_024448693.1:c.1374T>A, XM_017018310.2:c.1374T>C, XM_017018310.2:c.1374T>A, XM_017018310.1:c.1374T>C, XM_017018310.1:c.1374T>A, NM_001363594.2:c.1305T>C, NM_001363594.2:c.1305T>A, NM_001363594.1:c.1305T>C, NM_001363594.1:c.1305T>A, XM_017018307.2:c.1374T>C, XM_017018307.2:c.1374T>A, XM_017018307.1:c.1374T>C, XM_017018307.1:c.1374T>A, XM_024448690.2:c.1374T>C, XM_024448690.2:c.1374T>A, XM_024448690.1:c.1374T>C, XM_024448690.1:c.1374T>A, NM_001318736.2:c.1374T>C, NM_001318736.2:c.1374T>A, NM_001318736.1:c.1374T>C, NM_001318736.1:c.1374T>A, XM_047427607.1:c.1374T>C, XM_047427607.1:c.1374T>A, XM_047427606.1:c.1374T>C, XM_047427606.1:c.1374T>A, XM_047427604.1:c.1374T>C, XM_047427604.1:c.1374T>A, XM_047427602.1:c.1374T>C, XM_047427602.1:c.1374T>A, XM_047427603.1:c.1374T>C, XM_047427603.1:c.1374T>A, XM_047427605.1:c.1374T>C, XM_047427605.1:c.1374T>A, XP_011541286.1:p.Asp458Glu, XP_011541289.1:p.Asp458Glu, NP_079001.2:p.Asp458Glu, XP_011541290.1:p.Asp458Glu, XP_005274349.1:p.Asp458Glu, XP_024304461.1:p.Asp458Glu, XP_016873799.1:p.Asp458Glu, NP_001350523.1:p.Asp435Glu, XP_016873796.1:p.Asp458Glu, XP_024304458.1:p.Asp458Glu, NP_001305665.1:p.Asp458Glu, XP_047283563.1:p.Asp458Glu, XP_047283562.1:p.Asp458Glu, XP_047283560.1:p.Asp458Glu, XP_047283558.1:p.Asp458Glu, XP_047283559.1:p.Asp458Glu, XP_047283561.1:p.Asp458Glu

                            14.

                            rs1472698588 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              11:96384421 (GRCh38)
                              11:96117585 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:96384420:A:
                              Gene:
                              CCDC82 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,stop_gained
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0.000027/1 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000223/1 (Estonian)
                              HGVS:
                              NC_000011.10:g.96384421del, NC_000011.9:g.96117585del, XM_011542984.4:c.327del, XM_011542984.3:c.327del, XM_011542984.2:c.327del, XM_011542984.1:c.327del, XM_011542987.4:c.327del, XM_011542987.3:c.327del, XM_011542987.2:c.327del, XM_011542987.1:c.327del, NM_024725.4:c.327del, NM_024725.3:c.327del, XM_011542988.4:c.327del, XM_011542988.3:c.327del, XM_011542988.2:c.327del, XM_011542988.1:c.327del, XM_005274292.4:c.327del, XM_005274292.3:c.327del, XM_005274292.2:c.327del, XM_005274292.1:c.327del, NM_001318737.3:c.327del, NM_001318737.2:c.327del, NM_001318737.1:c.327del, XM_024448693.2:c.327del, XM_024448693.1:c.327del, XM_017018310.2:c.327del, XM_017018310.1:c.327del, NM_001363594.2:c.327del, NM_001363594.1:c.327del, XM_017018307.2:c.327del, XM_017018307.1:c.327del, XM_024448690.2:c.327del, XM_024448690.1:c.327del, NM_001318736.2:c.327del, NM_001318736.1:c.327del, XM_047427607.1:c.327del, XM_047427606.1:c.327del, XM_047427604.1:c.327del, XM_047427602.1:c.327del, XM_047427603.1:c.327del, XM_047427605.1:c.327del, XP_011541286.1:p.Thr108_Tyr109insTer, XP_011541289.1:p.Thr108_Tyr109insTer, NP_079001.2:p.Thr108_Tyr109insTer, XP_011541290.1:p.Thr108_Tyr109insTer, XP_005274349.1:p.Thr108_Tyr109insTer, NP_001305666.1:p.Thr108_Tyr109insTer, XP_024304461.1:p.Thr108_Tyr109insTer, XP_016873799.1:p.Thr108_Tyr109insTer, NP_001350523.1:p.Thr108_Tyr109insTer, XP_016873796.1:p.Thr108_Tyr109insTer, XP_024304458.1:p.Thr108_Tyr109insTer, NP_001305665.1:p.Thr108_Tyr109insTer, XP_047283563.1:p.Thr108_Tyr109insTer, XP_047283562.1:p.Thr108_Tyr109insTer, XP_047283560.1:p.Thr108_Tyr109insTer, XP_047283558.1:p.Thr108_Tyr109insTer, XP_047283559.1:p.Thr108_Tyr109insTer, XP_047283561.1:p.Thr108_Tyr109insTer

                              15.

                              rs1471235718 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                11:96384096 (GRCh38)
                                11:96117260 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:96384095:C:G,NC_000011.10:96384095:C:T
                                Gene:
                                CCDC82 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000011.10:g.96384096C>G, NC_000011.10:g.96384096C>T, NC_000011.9:g.96117260C>G, NC_000011.9:g.96117260C>T, XM_011542984.4:c.652G>C, XM_011542984.4:c.652G>A, XM_011542984.3:c.652G>C, XM_011542984.3:c.652G>A, XM_011542984.2:c.652G>C, XM_011542984.2:c.652G>A, XM_011542984.1:c.652G>C, XM_011542984.1:c.652G>A, XM_011542987.4:c.652G>C, XM_011542987.4:c.652G>A, XM_011542987.3:c.652G>C, XM_011542987.3:c.652G>A, XM_011542987.2:c.652G>C, XM_011542987.2:c.652G>A, XM_011542987.1:c.652G>C, XM_011542987.1:c.652G>A, NM_024725.4:c.652G>C, NM_024725.4:c.652G>A, NM_024725.3:c.652G>C, NM_024725.3:c.652G>A, XM_011542988.4:c.652G>C, XM_011542988.4:c.652G>A, XM_011542988.3:c.652G>C, XM_011542988.3:c.652G>A, XM_011542988.2:c.652G>C, XM_011542988.2:c.652G>A, XM_011542988.1:c.652G>C, XM_011542988.1:c.652G>A, XM_005274292.4:c.652G>C, XM_005274292.4:c.652G>A, XM_005274292.3:c.652G>C, XM_005274292.3:c.652G>A, XM_005274292.2:c.652G>C, XM_005274292.2:c.652G>A, XM_005274292.1:c.652G>C, XM_005274292.1:c.652G>A, NM_001318737.3:c.652G>C, NM_001318737.3:c.652G>A, NM_001318737.2:c.652G>C, NM_001318737.2:c.652G>A, NM_001318737.1:c.652G>C, NM_001318737.1:c.652G>A, XM_024448693.2:c.652G>C, XM_024448693.2:c.652G>A, XM_024448693.1:c.652G>C, XM_024448693.1:c.652G>A, XM_017018310.2:c.652G>C, XM_017018310.2:c.652G>A, XM_017018310.1:c.652G>C, XM_017018310.1:c.652G>A, NM_001363594.2:c.583G>C, NM_001363594.2:c.583G>A, NM_001363594.1:c.583G>C, NM_001363594.1:c.583G>A, XM_017018307.2:c.652G>C, XM_017018307.2:c.652G>A, XM_017018307.1:c.652G>C, XM_017018307.1:c.652G>A, XM_024448690.2:c.652G>C, XM_024448690.2:c.652G>A, XM_024448690.1:c.652G>C, XM_024448690.1:c.652G>A, NM_001318736.2:c.652G>C, NM_001318736.2:c.652G>A, NM_001318736.1:c.652G>C, NM_001318736.1:c.652G>A, XM_047427607.1:c.652G>C, XM_047427607.1:c.652G>A, XM_047427606.1:c.652G>C, XM_047427606.1:c.652G>A, XM_047427604.1:c.652G>C, XM_047427604.1:c.652G>A, XM_047427602.1:c.652G>C, XM_047427602.1:c.652G>A, XM_047427603.1:c.652G>C, XM_047427603.1:c.652G>A, XM_047427605.1:c.652G>C, XM_047427605.1:c.652G>A, XP_011541286.1:p.Gly218Arg, XP_011541286.1:p.Gly218Ser, XP_011541289.1:p.Gly218Arg, XP_011541289.1:p.Gly218Ser, NP_079001.2:p.Gly218Arg, NP_079001.2:p.Gly218Ser, XP_011541290.1:p.Gly218Arg, XP_011541290.1:p.Gly218Ser, XP_005274349.1:p.Gly218Arg, XP_005274349.1:p.Gly218Ser, NP_001305666.1:p.Gly218Arg, NP_001305666.1:p.Gly218Ser, XP_024304461.1:p.Gly218Arg, XP_024304461.1:p.Gly218Ser, XP_016873799.1:p.Gly218Arg, XP_016873799.1:p.Gly218Ser, NP_001350523.1:p.Gly195Arg, NP_001350523.1:p.Gly195Ser, XP_016873796.1:p.Gly218Arg, XP_016873796.1:p.Gly218Ser, XP_024304458.1:p.Gly218Arg, XP_024304458.1:p.Gly218Ser, NP_001305665.1:p.Gly218Arg, NP_001305665.1:p.Gly218Ser, XP_047283563.1:p.Gly218Arg, XP_047283563.1:p.Gly218Ser, XP_047283562.1:p.Gly218Arg, XP_047283562.1:p.Gly218Ser, XP_047283560.1:p.Gly218Arg, XP_047283560.1:p.Gly218Ser, XP_047283558.1:p.Gly218Arg, XP_047283558.1:p.Gly218Ser, XP_047283559.1:p.Gly218Arg, XP_047283559.1:p.Gly218Ser, XP_047283561.1:p.Gly218Arg, XP_047283561.1:p.Gly218Ser

                                16.

                                rs1470261908 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:96383371 (GRCh38)
                                  11:96116535 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:96383370:C:T
                                  Gene:
                                  CCDC82 (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=0.000009/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.96383371C>T, NC_000011.9:g.96116535C>T, XM_011542984.4:c.889G>A, XM_011542984.3:c.889G>A, XM_011542984.2:c.889G>A, XM_011542984.1:c.889G>A, XM_011542987.4:c.889G>A, XM_011542987.3:c.889G>A, XM_011542987.2:c.889G>A, XM_011542987.1:c.889G>A, NM_024725.4:c.889G>A, NM_024725.3:c.889G>A, XM_011542988.4:c.889G>A, XM_011542988.3:c.889G>A, XM_011542988.2:c.889G>A, XM_011542988.1:c.889G>A, XM_005274292.4:c.889G>A, XM_005274292.3:c.889G>A, XM_005274292.2:c.889G>A, XM_005274292.1:c.889G>A, NM_001318737.3:c.889G>A, NM_001318737.2:c.889G>A, NM_001318737.1:c.889G>A, XM_024448693.2:c.889G>A, XM_024448693.1:c.889G>A, XM_017018310.2:c.889G>A, XM_017018310.1:c.889G>A, NM_001363594.2:c.820G>A, NM_001363594.1:c.820G>A, XM_017018307.2:c.889G>A, XM_017018307.1:c.889G>A, XM_024448690.2:c.889G>A, XM_024448690.1:c.889G>A, NM_001318736.2:c.889G>A, NM_001318736.1:c.889G>A, XM_047427607.1:c.889G>A, XM_047427606.1:c.889G>A, XM_047427604.1:c.889G>A, XM_047427602.1:c.889G>A, XM_047427603.1:c.889G>A, XM_047427605.1:c.889G>A, XP_011541286.1:p.Asp297Asn, XP_011541289.1:p.Asp297Asn, NP_079001.2:p.Asp297Asn, XP_011541290.1:p.Asp297Asn, XP_005274349.1:p.Asp297Asn, NP_001305666.1:p.Asp297Asn, XP_024304461.1:p.Asp297Asn, XP_016873799.1:p.Asp297Asn, NP_001350523.1:p.Asp274Asn, XP_016873796.1:p.Asp297Asn, XP_024304458.1:p.Asp297Asn, NP_001305665.1:p.Asp297Asn, XP_047283563.1:p.Asp297Asn, XP_047283562.1:p.Asp297Asn, XP_047283560.1:p.Asp297Asn, XP_047283558.1:p.Asp297Asn, XP_047283559.1:p.Asp297Asn, XP_047283561.1:p.Asp297Asn

                                  17.

                                  rs1467133882 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:96359051 (GRCh38)
                                    11:96092215 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:96359050:A:G
                                    Gene:
                                    CCDC82 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000011.10:g.96359051A>G, NC_000011.9:g.96092215A>G, XM_011542984.4:c.1508T>C, XM_011542984.3:c.1508T>C, XM_011542984.2:c.1508T>C, XM_011542984.1:c.1508T>C, XM_011542987.4:c.1508T>C, XM_011542987.3:c.1508T>C, XM_011542987.2:c.1508T>C, XM_011542987.1:c.1508T>C, NM_024725.4:c.1508T>C, NM_024725.3:c.1508T>C, XM_011542988.4:c.1508T>C, XM_011542988.3:c.1508T>C, XM_011542988.2:c.1508T>C, XM_011542988.1:c.1508T>C, XM_005274292.4:c.1508T>C, XM_005274292.3:c.1508T>C, XM_005274292.2:c.1508T>C, XM_005274292.1:c.1508T>C, XM_024448693.2:c.1508T>C, XM_024448693.1:c.1508T>C, XM_017018310.2:c.1508T>C, XM_017018310.1:c.1508T>C, NM_001363594.2:c.1439T>C, NM_001363594.1:c.1439T>C, XM_017018307.2:c.1508T>C, XM_017018307.1:c.1508T>C, XM_024448690.2:c.1508T>C, XM_024448690.1:c.1508T>C, NM_001318736.2:c.1508T>C, NM_001318736.1:c.1508T>C, XM_047427607.1:c.1508T>C, XM_047427606.1:c.1508T>C, XM_047427604.1:c.1508T>C, XM_047427602.1:c.1508T>C, XM_047427603.1:c.1508T>C, XM_047427605.1:c.1508T>C, XP_011541286.1:p.Val503Ala, XP_011541289.1:p.Val503Ala, NP_079001.2:p.Val503Ala, XP_011541290.1:p.Val503Ala, XP_005274349.1:p.Val503Ala, XP_024304461.1:p.Val503Ala, XP_016873799.1:p.Val503Ala, NP_001350523.1:p.Val480Ala, XP_016873796.1:p.Val503Ala, XP_024304458.1:p.Val503Ala, NP_001305665.1:p.Val503Ala, XP_047283563.1:p.Val503Ala, XP_047283562.1:p.Val503Ala, XP_047283560.1:p.Val503Ala, XP_047283558.1:p.Val503Ala, XP_047283559.1:p.Val503Ala, XP_047283561.1:p.Val503Ala

                                    18.

                                    rs1464528377 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      11:96365130 (GRCh38)
                                      11:96098294 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:96365129:A:G,NC_000011.10:96365129:A:T
                                      Gene:
                                      CCDC82 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.96365130A>G, NC_000011.10:g.96365130A>T, NC_000011.9:g.96098294A>G, NC_000011.9:g.96098294A>T, XM_011542984.4:c.1230T>C, XM_011542984.4:c.1230T>A, XM_011542984.3:c.1230T>C, XM_011542984.3:c.1230T>A, XM_011542984.2:c.1230T>C, XM_011542984.2:c.1230T>A, XM_011542984.1:c.1230T>C, XM_011542984.1:c.1230T>A, XM_011542987.4:c.1230T>C, XM_011542987.4:c.1230T>A, XM_011542987.3:c.1230T>C, XM_011542987.3:c.1230T>A, XM_011542987.2:c.1230T>C, XM_011542987.2:c.1230T>A, XM_011542987.1:c.1230T>C, XM_011542987.1:c.1230T>A, NM_024725.4:c.1230T>C, NM_024725.4:c.1230T>A, NM_024725.3:c.1230T>C, NM_024725.3:c.1230T>A, XM_011542988.4:c.1230T>C, XM_011542988.4:c.1230T>A, XM_011542988.3:c.1230T>C, XM_011542988.3:c.1230T>A, XM_011542988.2:c.1230T>C, XM_011542988.2:c.1230T>A, XM_011542988.1:c.1230T>C, XM_011542988.1:c.1230T>A, XM_005274292.4:c.1230T>C, XM_005274292.4:c.1230T>A, XM_005274292.3:c.1230T>C, XM_005274292.3:c.1230T>A, XM_005274292.2:c.1230T>C, XM_005274292.2:c.1230T>A, XM_005274292.1:c.1230T>C, XM_005274292.1:c.1230T>A, XM_024448693.2:c.1230T>C, XM_024448693.2:c.1230T>A, XM_024448693.1:c.1230T>C, XM_024448693.1:c.1230T>A, XM_017018310.2:c.1230T>C, XM_017018310.2:c.1230T>A, XM_017018310.1:c.1230T>C, XM_017018310.1:c.1230T>A, NM_001363594.2:c.1161T>C, NM_001363594.2:c.1161T>A, NM_001363594.1:c.1161T>C, NM_001363594.1:c.1161T>A, XM_017018307.2:c.1230T>C, XM_017018307.2:c.1230T>A, XM_017018307.1:c.1230T>C, XM_017018307.1:c.1230T>A, XM_024448690.2:c.1230T>C, XM_024448690.2:c.1230T>A, XM_024448690.1:c.1230T>C, XM_024448690.1:c.1230T>A, NM_001318736.2:c.1230T>C, NM_001318736.2:c.1230T>A, NM_001318736.1:c.1230T>C, NM_001318736.1:c.1230T>A, XM_047427607.1:c.1230T>C, XM_047427607.1:c.1230T>A, XM_047427606.1:c.1230T>C, XM_047427606.1:c.1230T>A, XM_047427604.1:c.1230T>C, XM_047427604.1:c.1230T>A, XM_047427602.1:c.1230T>C, XM_047427602.1:c.1230T>A, XM_047427603.1:c.1230T>C, XM_047427603.1:c.1230T>A, XM_047427605.1:c.1230T>C, XM_047427605.1:c.1230T>A

                                      19.

                                      rs1463409202 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C,T [Show Flanks]
                                        Chromosome:
                                        11:96365092 (GRCh38)
                                        11:96098256 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:96365091:G:A,NC_000011.10:96365091:G:C,NC_000011.10:96365091:G:T
                                        Gene:
                                        CCDC82 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000011.10:g.96365092G>A, NC_000011.10:g.96365092G>C, NC_000011.10:g.96365092G>T, NC_000011.9:g.96098256G>A, NC_000011.9:g.96098256G>C, NC_000011.9:g.96098256G>T, XM_011542984.4:c.1268C>T, XM_011542984.4:c.1268C>G, XM_011542984.4:c.1268C>A, XM_011542984.3:c.1268C>T, XM_011542984.3:c.1268C>G, XM_011542984.3:c.1268C>A, XM_011542984.2:c.1268C>T, XM_011542984.2:c.1268C>G, XM_011542984.2:c.1268C>A, XM_011542984.1:c.1268C>T, XM_011542984.1:c.1268C>G, XM_011542984.1:c.1268C>A, XM_011542987.4:c.1268C>T, XM_011542987.4:c.1268C>G, XM_011542987.4:c.1268C>A, XM_011542987.3:c.1268C>T, XM_011542987.3:c.1268C>G, XM_011542987.3:c.1268C>A, XM_011542987.2:c.1268C>T, XM_011542987.2:c.1268C>G, XM_011542987.2:c.1268C>A, XM_011542987.1:c.1268C>T, XM_011542987.1:c.1268C>G, XM_011542987.1:c.1268C>A, NM_024725.4:c.1268C>T, NM_024725.4:c.1268C>G, NM_024725.4:c.1268C>A, NM_024725.3:c.1268C>T, NM_024725.3:c.1268C>G, NM_024725.3:c.1268C>A, XM_011542988.4:c.1268C>T, XM_011542988.4:c.1268C>G, XM_011542988.4:c.1268C>A, XM_011542988.3:c.1268C>T, XM_011542988.3:c.1268C>G, XM_011542988.3:c.1268C>A, XM_011542988.2:c.1268C>T, XM_011542988.2:c.1268C>G, XM_011542988.2:c.1268C>A, XM_011542988.1:c.1268C>T, XM_011542988.1:c.1268C>G, XM_011542988.1:c.1268C>A, XM_005274292.4:c.1268C>T, XM_005274292.4:c.1268C>G, XM_005274292.4:c.1268C>A, XM_005274292.3:c.1268C>T, XM_005274292.3:c.1268C>G, XM_005274292.3:c.1268C>A, XM_005274292.2:c.1268C>T, XM_005274292.2:c.1268C>G, XM_005274292.2:c.1268C>A, XM_005274292.1:c.1268C>T, XM_005274292.1:c.1268C>G, XM_005274292.1:c.1268C>A, XM_024448693.2:c.1268C>T, XM_024448693.2:c.1268C>G, XM_024448693.2:c.1268C>A, XM_024448693.1:c.1268C>T, XM_024448693.1:c.1268C>G, XM_024448693.1:c.1268C>A, XM_017018310.2:c.1268C>T, XM_017018310.2:c.1268C>G, XM_017018310.2:c.1268C>A, XM_017018310.1:c.1268C>T, XM_017018310.1:c.1268C>G, XM_017018310.1:c.1268C>A, NM_001363594.2:c.1199C>T, NM_001363594.2:c.1199C>G, NM_001363594.2:c.1199C>A, NM_001363594.1:c.1199C>T, NM_001363594.1:c.1199C>G, NM_001363594.1:c.1199C>A, XM_017018307.2:c.1268C>T, XM_017018307.2:c.1268C>G, XM_017018307.2:c.1268C>A, XM_017018307.1:c.1268C>T, XM_017018307.1:c.1268C>G, XM_017018307.1:c.1268C>A, XM_024448690.2:c.1268C>T, XM_024448690.2:c.1268C>G, XM_024448690.2:c.1268C>A, XM_024448690.1:c.1268C>T, XM_024448690.1:c.1268C>G, XM_024448690.1:c.1268C>A, NM_001318736.2:c.1268C>T, NM_001318736.2:c.1268C>G, NM_001318736.2:c.1268C>A, NM_001318736.1:c.1268C>T, NM_001318736.1:c.1268C>G, NM_001318736.1:c.1268C>A, XM_047427607.1:c.1268C>T, XM_047427607.1:c.1268C>G, XM_047427607.1:c.1268C>A, XM_047427606.1:c.1268C>T, XM_047427606.1:c.1268C>G, XM_047427606.1:c.1268C>A, XM_047427604.1:c.1268C>T, XM_047427604.1:c.1268C>G, XM_047427604.1:c.1268C>A, XM_047427602.1:c.1268C>T, XM_047427602.1:c.1268C>G, XM_047427602.1:c.1268C>A, XM_047427603.1:c.1268C>T, XM_047427603.1:c.1268C>G, XM_047427603.1:c.1268C>A, XM_047427605.1:c.1268C>T, XM_047427605.1:c.1268C>G, XM_047427605.1:c.1268C>A, XP_011541286.1:p.Ser423Phe, XP_011541286.1:p.Ser423Cys, XP_011541286.1:p.Ser423Tyr, XP_011541289.1:p.Ser423Phe, XP_011541289.1:p.Ser423Cys, XP_011541289.1:p.Ser423Tyr, NP_079001.2:p.Ser423Phe, NP_079001.2:p.Ser423Cys, NP_079001.2:p.Ser423Tyr, XP_011541290.1:p.Ser423Phe, XP_011541290.1:p.Ser423Cys, XP_011541290.1:p.Ser423Tyr, XP_005274349.1:p.Ser423Phe, XP_005274349.1:p.Ser423Cys, XP_005274349.1:p.Ser423Tyr, XP_024304461.1:p.Ser423Phe, XP_024304461.1:p.Ser423Cys, XP_024304461.1:p.Ser423Tyr, XP_016873799.1:p.Ser423Phe, XP_016873799.1:p.Ser423Cys, XP_016873799.1:p.Ser423Tyr, NP_001350523.1:p.Ser400Phe, NP_001350523.1:p.Ser400Cys, NP_001350523.1:p.Ser400Tyr, XP_016873796.1:p.Ser423Phe, XP_016873796.1:p.Ser423Cys, XP_016873796.1:p.Ser423Tyr, XP_024304458.1:p.Ser423Phe, XP_024304458.1:p.Ser423Cys, XP_024304458.1:p.Ser423Tyr, NP_001305665.1:p.Ser423Phe, NP_001305665.1:p.Ser423Cys, NP_001305665.1:p.Ser423Tyr, XP_047283563.1:p.Ser423Phe, XP_047283563.1:p.Ser423Cys, XP_047283563.1:p.Ser423Tyr, XP_047283562.1:p.Ser423Phe, XP_047283562.1:p.Ser423Cys, XP_047283562.1:p.Ser423Tyr, XP_047283560.1:p.Ser423Phe, XP_047283560.1:p.Ser423Cys, XP_047283560.1:p.Ser423Tyr, XP_047283558.1:p.Ser423Phe, XP_047283558.1:p.Ser423Cys, XP_047283558.1:p.Ser423Tyr, XP_047283559.1:p.Ser423Phe, XP_047283559.1:p.Ser423Cys, XP_047283559.1:p.Ser423Tyr, XP_047283561.1:p.Ser423Phe, XP_047283561.1:p.Ser423Cys, XP_047283561.1:p.Ser423Tyr

                                        20.

                                        rs1461130179 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGAATT>- [Show Flanks]
                                          Chromosome:
                                          11:96384709 (GRCh38)
                                          11:96117873 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:96384706:TTAGAATT:TT
                                          Gene:
                                          CCDC82 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,inframe_deletion
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.96384709_96384714del, NC_000011.9:g.96117873_96117878del, XM_011542984.4:c.36_41del, XM_011542984.3:c.36_41del, XM_011542984.2:c.36_41del, XM_011542984.1:c.36_41del, XM_011542987.4:c.36_41del, XM_011542987.3:c.36_41del, XM_011542987.2:c.36_41del, XM_011542987.1:c.36_41del, NM_024725.4:c.36_41del, NM_024725.3:c.36_41del, XM_011542988.4:c.36_41del, XM_011542988.3:c.36_41del, XM_011542988.2:c.36_41del, XM_011542988.1:c.36_41del, XM_005274292.4:c.36_41del, XM_005274292.3:c.36_41del, XM_005274292.2:c.36_41del, XM_005274292.1:c.36_41del, NM_001318737.3:c.36_41del, NM_001318737.2:c.36_41del, NM_001318737.1:c.36_41del, XM_024448693.2:c.36_41del, XM_024448693.1:c.36_41del, XM_017018310.2:c.36_41del, XM_017018310.1:c.36_41del, NM_001363594.2:c.36_41del, NM_001363594.1:c.36_41del, XM_017018307.2:c.36_41del, XM_017018307.1:c.36_41del, XM_024448690.2:c.36_41del, XM_024448690.1:c.36_41del, NM_001318736.2:c.36_41del, NM_001318736.1:c.36_41del, XM_047427607.1:c.36_41del, XM_047427606.1:c.36_41del, XM_047427604.1:c.36_41del, XM_047427602.1:c.36_41del, XM_047427603.1:c.36_41del, XM_047427605.1:c.36_41del, XP_011541286.1:p.Asn12_Ser13del, XP_011541289.1:p.Asn12_Ser13del, NP_079001.2:p.Asn12_Ser13del, XP_011541290.1:p.Asn12_Ser13del, XP_005274349.1:p.Asn12_Ser13del, NP_001305666.1:p.Asn12_Ser13del, XP_024304461.1:p.Asn12_Ser13del, XP_016873799.1:p.Asn12_Ser13del, NP_001350523.1:p.Asn12_Ser13del, XP_016873796.1:p.Asn12_Ser13del, XP_024304458.1:p.Asn12_Ser13del, NP_001305665.1:p.Asn12_Ser13del, XP_047283563.1:p.Asn12_Ser13del, XP_047283562.1:p.Asn12_Ser13del, XP_047283560.1:p.Asn12_Ser13del, XP_047283558.1:p.Asn12_Ser13del, XP_047283559.1:p.Asn12_Ser13del, XP_047283561.1:p.Asn12_Ser13del

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