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Items: 1 to 20 of 851

1.

rs1490253703 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    17:82194083 (GRCh38)
    17:80151959 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82194082:T:G
    Gene:
    CCDC57 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.82194083T>G, NC_000017.10:g.80151959T>G, XM_011523555.4:c.132A>C, XM_011523555.3:c.132A>C, XM_011523555.2:c.132A>C, XM_011523555.1:c.132A>C, XM_011523551.4:c.675A>C, XM_011523551.3:c.675A>C, XM_011523551.2:c.675A>C, XM_011523551.1:c.675A>C, XM_011523548.4:c.675A>C, XM_011523548.3:c.675A>C, XM_011523548.2:c.675A>C, XM_011523548.1:c.675A>C, XM_011523549.4:c.675A>C, XM_011523549.3:c.675A>C, XM_011523549.2:c.675A>C, XM_011523549.1:c.675A>C, NM_198082.4:c.675A>C, NM_198082.3:c.675A>C, NM_198082.2:c.675A>C, NM_001316321.3:c.675A>C, NM_001316321.2:c.675A>C, NM_001316321.1:c.675A>C, XM_017024464.3:c.945A>C, XM_017024464.2:c.675A>C, XM_017024464.1:c.675A>C, XM_017024467.3:c.675A>C, XM_017024467.2:c.675A>C, XM_017024467.1:c.675A>C, XM_017024462.3:c.945A>C, XM_017024462.2:c.945A>C, XM_017024462.1:c.945A>C, XM_017024463.3:c.945A>C, XM_017024463.2:c.675A>C, XM_017024463.1:c.675A>C, XM_017024469.3:c.423A>C, XM_017024469.2:c.423A>C, XM_017024469.1:c.423A>C, XR_001752485.3:n.1011A>C, XR_001752485.2:n.940A>C, XR_001752485.1:n.939A>C, XM_017024474.3:c.945A>C, XM_017024474.2:c.675A>C, XM_017024474.1:c.675A>C, XM_017024473.2:c.945A>C, XM_017024473.1:c.675A>C, NM_001367828.2:c.-790A>C, NM_001367828.1:c.-790A>C, XM_024450704.2:c.132A>C, XM_024450704.1:c.132A>C, XM_047435778.1:c.735A>C, XM_047435767.1:c.735A>C, XM_047435773.1:c.735A>C, XM_047435779.1:c.132A>C, XM_047435780.1:c.735A>C, XM_047435768.1:c.735A>C, XM_047435766.1:c.735A>C, XM_047435765.1:c.945A>C, XM_047435781.1:c.735A>C, XM_047435771.1:c.510A>C, NM_001394670.1:c.675A>C, XM_047435769.1:c.945A>C, XM_047435770.1:c.945A>C, XM_047435772.1:c.510A>C, XM_047435774.1:c.675A>C, XR_007065291.1:n.2509A>C, XM_047435782.1:c.735A>C, XM_047435783.1:c.735A>C, NM_001394669.1:c.675A>C, XM_047435775.1:c.321A>C, XM_047435776.1:c.945A>C

    2.

    rs1489300922 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      17:82194122 (GRCh38)
      17:80151998 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82194121:TTT:TT
      Gene:
      CCDC57 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000017.11:g.82194124del, NC_000017.10:g.80152000del, XM_011523555.4:c.93del, XM_011523555.3:c.93del, XM_011523555.2:c.93del, XM_011523555.1:c.93del, XM_011523551.4:c.636del, XM_011523551.3:c.636del, XM_011523551.2:c.636del, XM_011523551.1:c.636del, XM_011523548.4:c.636del, XM_011523548.3:c.636del, XM_011523548.2:c.636del, XM_011523548.1:c.636del, XM_011523549.4:c.636del, XM_011523549.3:c.636del, XM_011523549.2:c.636del, XM_011523549.1:c.636del, NM_198082.4:c.636del, NM_198082.3:c.636del, NM_198082.2:c.636del, NM_001316321.3:c.636del, NM_001316321.2:c.636del, NM_001316321.1:c.636del, XM_017024464.3:c.906del, XM_017024464.2:c.636del, XM_017024464.1:c.636del, XM_017024467.3:c.636del, XM_017024467.2:c.636del, XM_017024467.1:c.636del, XM_017024462.3:c.906del, XM_017024462.2:c.906del, XM_017024462.1:c.906del, XM_017024463.3:c.906del, XM_017024463.2:c.636del, XM_017024463.1:c.636del, XM_017024469.3:c.384del, XM_017024469.2:c.384del, XM_017024469.1:c.384del, XR_001752485.3:n.972del, XR_001752485.2:n.901del, XR_001752485.1:n.900del, XM_017024474.3:c.906del, XM_017024474.2:c.636del, XM_017024474.1:c.636del, XM_017024473.2:c.906del, XM_017024473.1:c.636del, NM_001367828.2:c.-829del, NM_001367828.1:c.-829del, XM_024450704.2:c.93del, XM_024450704.1:c.93del, XM_047435778.1:c.696del, XM_047435767.1:c.696del, XM_047435773.1:c.696del, XM_047435779.1:c.93del, XM_047435780.1:c.696del, XM_047435768.1:c.696del, XM_047435766.1:c.696del, XM_047435765.1:c.906del, XM_047435781.1:c.696del, XM_047435771.1:c.471del, NM_001394670.1:c.636del, XM_047435769.1:c.906del, XM_047435770.1:c.906del, XM_047435772.1:c.471del, XM_047435774.1:c.636del, XR_007065291.1:n.2470del, XM_047435782.1:c.696del, XM_047435783.1:c.696del, NM_001394669.1:c.636del, XM_047435775.1:c.282del, XM_047435776.1:c.906del, XP_011521857.1:p.Glu32fs, XP_011521853.1:p.Glu213fs, XP_011521850.1:p.Glu213fs, XP_011521851.1:p.Glu213fs, NP_932348.2:p.Glu213fs, NP_001303250.1:p.Glu213fs, XP_016879953.2:p.Glu303fs, XP_016879956.1:p.Glu213fs, XP_016879951.1:p.Glu303fs, XP_016879952.2:p.Glu303fs, XP_016879958.1:p.Glu129fs, XP_016879963.2:p.Glu303fs, XP_016879962.2:p.Glu303fs, XP_024306472.1:p.Glu32fs, XP_047291734.1:p.Glu233fs, XP_047291723.1:p.Glu233fs, XP_047291729.1:p.Glu233fs, XP_047291735.1:p.Glu32fs, XP_047291736.1:p.Glu233fs, XP_047291724.1:p.Glu233fs, XP_047291722.1:p.Glu233fs, XP_047291721.1:p.Glu303fs, XP_047291737.1:p.Glu233fs, XP_047291727.1:p.Glu158fs, NP_001381599.1:p.Glu213fs, XP_047291725.1:p.Glu303fs, XP_047291726.1:p.Glu303fs, XP_047291728.1:p.Glu158fs, XP_047291730.1:p.Glu213fs, XP_047291738.1:p.Glu233fs, XP_047291739.1:p.Glu233fs, NP_001381598.1:p.Glu213fs, XP_047291731.1:p.Glu95fs, XP_047291732.1:p.Glu303fs

      3.

      rs1489033065 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        17:82198352 (GRCh38)
        17:80156228 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82198351:G:
        Gene:
        CCDC57 (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000014/2 (GnomAD)
        -=0.000019/5 (TOPMED)
        HGVS:
        NC_000017.11:g.82198352del, NC_000017.10:g.80156228del, XM_011523555.4:c.-1674del, XM_011523551.4:c.478del, XM_011523551.3:c.478del, XM_011523551.2:c.478del, XM_011523551.1:c.478del, XM_011523548.4:c.478del, XM_011523548.3:c.478del, XM_011523548.2:c.478del, XM_011523548.1:c.478del, XM_011523549.4:c.478del, XM_011523549.3:c.478del, XM_011523549.2:c.478del, XM_011523549.1:c.478del, NM_198082.4:c.478del, NM_198082.3:c.478del, NM_198082.2:c.478del, NM_001316321.3:c.478del, NM_001316321.2:c.478del, NM_001316321.1:c.478del, XM_017024464.3:c.748del, XM_017024464.2:c.478del, XM_017024464.1:c.478del, XM_017024467.3:c.478del, XM_017024467.2:c.478del, XM_017024467.1:c.478del, XM_017024462.3:c.748del, XM_017024462.2:c.748del, XM_017024462.1:c.748del, XM_017024463.3:c.748del, XM_017024463.2:c.478del, XM_017024463.1:c.478del, XM_017024469.3:c.226del, XM_017024469.2:c.226del, XM_017024469.1:c.226del, XR_001752485.3:n.814del, XR_001752485.2:n.743del, XR_001752485.1:n.742del, XM_017024474.3:c.748del, XM_017024474.2:c.478del, XM_017024474.1:c.478del, XM_017024473.2:c.748del, XM_017024473.1:c.478del, NM_001367828.2:c.-987del, NM_001367828.1:c.-987del, XM_024450704.2:c.-43del, XM_024450704.1:c.-43del, XM_047435778.1:c.538del, XM_047435767.1:c.538del, XM_047435773.1:c.538del, XM_047435779.1:c.-1674del, XM_047435780.1:c.538del, XM_047435768.1:c.538del, XM_047435766.1:c.538del, XM_047435765.1:c.748del, XM_047435781.1:c.538del, XM_047435771.1:c.313del, NM_001394670.1:c.478del, XM_047435769.1:c.748del, XM_047435770.1:c.748del, XM_047435772.1:c.313del, XM_047435774.1:c.478del, XR_007065291.1:n.2312del, XM_047435782.1:c.538del, XM_047435783.1:c.538del, NM_001394669.1:c.478del, XM_047435775.1:c.124del, XM_047435776.1:c.748del, XP_011521853.1:p.Glu161fs, XP_011521850.1:p.Glu161fs, XP_011521851.1:p.Glu161fs, NP_932348.2:p.Glu161fs, NP_001303250.1:p.Glu161fs, XP_016879953.2:p.Glu251fs, XP_016879956.1:p.Glu161fs, XP_016879951.1:p.Glu251fs, XP_016879952.2:p.Glu251fs, XP_016879958.1:p.Glu77fs, XP_016879963.2:p.Glu251fs, XP_016879962.2:p.Glu251fs, XP_047291734.1:p.Glu181fs, XP_047291723.1:p.Glu181fs, XP_047291729.1:p.Glu181fs, XP_047291736.1:p.Glu181fs, XP_047291724.1:p.Glu181fs, XP_047291722.1:p.Glu181fs, XP_047291721.1:p.Glu251fs, XP_047291737.1:p.Glu181fs, XP_047291727.1:p.Glu106fs, NP_001381599.1:p.Glu161fs, XP_047291725.1:p.Glu251fs, XP_047291726.1:p.Glu251fs, XP_047291728.1:p.Glu106fs, XP_047291730.1:p.Glu161fs, XP_047291738.1:p.Glu181fs, XP_047291739.1:p.Glu181fs, NP_001381598.1:p.Glu161fs, XP_047291731.1:p.Glu43fs, XP_047291732.1:p.Glu251fs

        4.

        rs1488886483 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:82183897 (GRCh38)
          17:80141773 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82183896:C:T
          Gene:
          CCDC57 (Varview)
          Functional Consequence:
          stop_gained,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.82183897C>T, NC_000017.10:g.80141773C>T, XM_011523555.4:c.545G>A, XM_011523555.3:c.545G>A, XM_011523555.2:c.545G>A, XM_011523555.1:c.545G>A, XM_011523551.4:c.1088G>A, XM_011523551.3:c.1088G>A, XM_011523551.2:c.1088G>A, XM_011523551.1:c.1088G>A, XM_011523548.4:c.1088G>A, XM_011523548.3:c.1088G>A, XM_011523548.2:c.1088G>A, XM_011523548.1:c.1088G>A, XM_011523549.4:c.1088G>A, XM_011523549.3:c.1088G>A, XM_011523549.2:c.1088G>A, XM_011523549.1:c.1088G>A, NM_198082.4:c.1088G>A, NM_198082.3:c.1088G>A, NM_198082.2:c.1088G>A, XM_011523557.4:c.-32G>A, XM_011523557.3:c.-32G>A, XM_011523557.2:c.-32G>A, XM_011523557.1:c.-32G>A, NM_001316321.3:c.1088G>A, NM_001316321.2:c.1088G>A, NM_001316321.1:c.1088G>A, XM_017024464.3:c.1358G>A, XM_017024464.2:c.1088G>A, XM_017024464.1:c.1088G>A, XM_017024467.3:c.1088G>A, XM_017024467.2:c.1088G>A, XM_017024467.1:c.1088G>A, XM_017024462.3:c.1358G>A, XM_017024462.2:c.1358G>A, XM_017024462.1:c.1358G>A, XM_017024463.3:c.1358G>A, XM_017024463.2:c.1088G>A, XM_017024463.1:c.1088G>A, XM_017024469.3:c.836G>A, XM_017024469.2:c.836G>A, XM_017024469.1:c.836G>A, XR_001752485.3:n.1424G>A, XR_001752485.2:n.1353G>A, XR_001752485.1:n.1352G>A, XM_017024474.3:c.1358G>A, XM_017024474.2:c.1088G>A, XM_017024474.1:c.1088G>A, XM_017024473.2:c.1358G>A, XM_017024473.1:c.1088G>A, NM_001367828.2:c.-226G>A, NM_001367828.1:c.-226G>A, XM_024450704.2:c.545G>A, XM_024450704.1:c.545G>A, XM_047435778.1:c.1148G>A, XM_047435767.1:c.1148G>A, XM_047435773.1:c.1148G>A, XM_047435779.1:c.545G>A, XM_047435780.1:c.1148G>A, XM_047435768.1:c.1148G>A, XM_047435766.1:c.1148G>A, XM_047435765.1:c.1358G>A, XM_047435781.1:c.1148G>A, XM_047435771.1:c.923G>A, NM_001394670.1:c.1088G>A, XM_047435769.1:c.1358G>A, XM_047435770.1:c.1358G>A, XM_047435772.1:c.923G>A, XM_047435774.1:c.1088G>A, XR_007065291.1:n.2922G>A, XM_047435782.1:c.1148G>A, XM_047435783.1:c.1148G>A, NM_001394669.1:c.1088G>A, XM_047435777.1:c.329G>A, XM_047435775.1:c.734G>A, XM_047435776.1:c.1358G>A, XP_011521857.1:p.Trp182Ter, XP_011521853.1:p.Trp363Ter, XP_011521850.1:p.Trp363Ter, XP_011521851.1:p.Trp363Ter, NP_932348.2:p.Trp363Ter, NP_001303250.1:p.Trp363Ter, XP_016879953.2:p.Trp453Ter, XP_016879956.1:p.Trp363Ter, XP_016879951.1:p.Trp453Ter, XP_016879952.2:p.Trp453Ter, XP_016879958.1:p.Trp279Ter, XP_016879963.2:p.Trp453Ter, XP_016879962.2:p.Trp453Ter, XP_024306472.1:p.Trp182Ter, XP_047291734.1:p.Trp383Ter, XP_047291723.1:p.Trp383Ter, XP_047291729.1:p.Trp383Ter, XP_047291735.1:p.Trp182Ter, XP_047291736.1:p.Trp383Ter, XP_047291724.1:p.Trp383Ter, XP_047291722.1:p.Trp383Ter, XP_047291721.1:p.Trp453Ter, XP_047291737.1:p.Trp383Ter, XP_047291727.1:p.Trp308Ter, NP_001381599.1:p.Trp363Ter, XP_047291725.1:p.Trp453Ter, XP_047291726.1:p.Trp453Ter, XP_047291728.1:p.Trp308Ter, XP_047291730.1:p.Trp363Ter, XP_047291738.1:p.Trp383Ter, XP_047291739.1:p.Trp383Ter, NP_001381598.1:p.Trp363Ter, XP_047291733.1:p.Trp110Ter, XP_047291731.1:p.Trp245Ter, XP_047291732.1:p.Trp453Ter

          5.

          rs1487438094 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:82194128 (GRCh38)
            17:80152004 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82194127:C:T
            Gene:
            CCDC57 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.82194128C>T, NC_000017.10:g.80152004C>T, XM_011523555.4:c.87G>A, XM_011523555.3:c.87G>A, XM_011523555.2:c.87G>A, XM_011523555.1:c.87G>A, XM_011523551.4:c.630G>A, XM_011523551.3:c.630G>A, XM_011523551.2:c.630G>A, XM_011523551.1:c.630G>A, XM_011523548.4:c.630G>A, XM_011523548.3:c.630G>A, XM_011523548.2:c.630G>A, XM_011523548.1:c.630G>A, XM_011523549.4:c.630G>A, XM_011523549.3:c.630G>A, XM_011523549.2:c.630G>A, XM_011523549.1:c.630G>A, NM_198082.4:c.630G>A, NM_198082.3:c.630G>A, NM_198082.2:c.630G>A, NM_001316321.3:c.630G>A, NM_001316321.2:c.630G>A, NM_001316321.1:c.630G>A, XM_017024464.3:c.900G>A, XM_017024464.2:c.630G>A, XM_017024464.1:c.630G>A, XM_017024467.3:c.630G>A, XM_017024467.2:c.630G>A, XM_017024467.1:c.630G>A, XM_017024462.3:c.900G>A, XM_017024462.2:c.900G>A, XM_017024462.1:c.900G>A, XM_017024463.3:c.900G>A, XM_017024463.2:c.630G>A, XM_017024463.1:c.630G>A, XM_017024469.3:c.378G>A, XM_017024469.2:c.378G>A, XM_017024469.1:c.378G>A, XR_001752485.3:n.966G>A, XR_001752485.2:n.895G>A, XR_001752485.1:n.894G>A, XM_017024474.3:c.900G>A, XM_017024474.2:c.630G>A, XM_017024474.1:c.630G>A, XM_017024473.2:c.900G>A, XM_017024473.1:c.630G>A, NM_001367828.2:c.-835G>A, NM_001367828.1:c.-835G>A, XM_024450704.2:c.87G>A, XM_024450704.1:c.87G>A, XM_047435778.1:c.690G>A, XM_047435767.1:c.690G>A, XM_047435773.1:c.690G>A, XM_047435779.1:c.87G>A, XM_047435780.1:c.690G>A, XM_047435768.1:c.690G>A, XM_047435766.1:c.690G>A, XM_047435765.1:c.900G>A, XM_047435781.1:c.690G>A, XM_047435771.1:c.465G>A, NM_001394670.1:c.630G>A, XM_047435769.1:c.900G>A, XM_047435770.1:c.900G>A, XM_047435772.1:c.465G>A, XM_047435774.1:c.630G>A, XR_007065291.1:n.2464G>A, XM_047435782.1:c.690G>A, XM_047435783.1:c.690G>A, NM_001394669.1:c.630G>A, XM_047435775.1:c.276G>A, XM_047435776.1:c.900G>A

            6.

            rs1487203808 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              17:82157940 (GRCh38)
              17:80115816 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82157939:C:A
              Gene:
              CCDC57 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              HGVS:
              NC_000017.11:g.82157940C>A, NC_000017.10:g.80115816C>A, XM_011523555.4:c.1506G>T, XM_011523555.3:c.1506G>T, XM_011523555.2:c.1506G>T, XM_011523555.1:c.1506G>T, XM_011523551.4:c.2049G>T, XM_011523551.3:c.2049G>T, XM_011523551.2:c.2049G>T, XM_011523551.1:c.2049G>T, XM_011523548.4:c.2049G>T, XM_011523548.3:c.2049G>T, XM_011523548.2:c.2049G>T, XM_011523548.1:c.2049G>T, XM_011523549.4:c.2049G>T, XM_011523549.3:c.2049G>T, XM_011523549.2:c.2049G>T, XM_011523549.1:c.2049G>T, NM_198082.4:c.2049G>T, NM_198082.3:c.2049G>T, NM_198082.2:c.2049G>T, XM_011523557.4:c.930G>T, XM_011523557.3:c.930G>T, XM_011523557.2:c.930G>T, XM_011523557.1:c.930G>T, NM_001316321.3:c.2049G>T, NM_001316321.2:c.2049G>T, NM_001316321.1:c.2049G>T, XM_017024464.3:c.2319G>T, XM_017024464.2:c.2049G>T, XM_017024464.1:c.2049G>T, XM_017024467.3:c.2049G>T, XM_017024467.2:c.2049G>T, XM_017024467.1:c.2049G>T, XM_017024462.3:c.2319G>T, XM_017024462.2:c.2319G>T, XM_017024462.1:c.2319G>T, XM_017024463.3:c.2319G>T, XM_017024463.2:c.2049G>T, XM_017024463.1:c.2049G>T, XM_017024469.3:c.1797G>T, XM_017024469.2:c.1797G>T, XM_017024469.1:c.1797G>T, XR_001752485.3:n.2385G>T, XR_001752485.2:n.2314G>T, XR_001752485.1:n.2313G>T, XM_017024474.3:c.2319G>T, XM_017024474.2:c.2049G>T, XM_017024474.1:c.2049G>T, XM_017024473.2:c.2319G>T, XM_017024473.1:c.2049G>T, NM_001367828.2:c.573G>T, NM_001367828.1:c.573G>T, XM_024450704.2:c.1506G>T, XM_024450704.1:c.1506G>T, XM_047435778.1:c.2109G>T, XM_047435767.1:c.2109G>T, XM_047435773.1:c.2109G>T, XM_047435779.1:c.1506G>T, XM_047435768.1:c.2109G>T, XM_047435766.1:c.2109G>T, XM_047435765.1:c.2319G>T, XM_047435771.1:c.1884G>T, NM_001394670.1:c.2049G>T, XM_047435769.1:c.2319G>T, XM_047435770.1:c.2319G>T, XM_047435772.1:c.1884G>T, XM_047435774.1:c.2049G>T, NM_001394669.1:c.2049G>T, XM_047435777.1:c.1290G>T, XM_047435775.1:c.1695G>T, XM_047435776.1:c.2319G>T

              7.

              rs1486317127 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                17:82178485 (GRCh38)
                17:80136361 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82178484:G:A,NC_000017.11:82178484:G:T
                Gene:
                CCDC57 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.82178485G>A, NC_000017.11:g.82178485G>T, NC_000017.10:g.80136361G>A, NC_000017.10:g.80136361G>T, XM_011523555.4:c.952C>T, XM_011523555.4:c.952C>A, XM_011523555.3:c.952C>T, XM_011523555.3:c.952C>A, XM_011523555.2:c.952C>T, XM_011523555.2:c.952C>A, XM_011523555.1:c.952C>T, XM_011523555.1:c.952C>A, XM_011523551.4:c.1495C>T, XM_011523551.4:c.1495C>A, XM_011523551.3:c.1495C>T, XM_011523551.3:c.1495C>A, XM_011523551.2:c.1495C>T, XM_011523551.2:c.1495C>A, XM_011523551.1:c.1495C>T, XM_011523551.1:c.1495C>A, XM_011523548.4:c.1495C>T, XM_011523548.4:c.1495C>A, XM_011523548.3:c.1495C>T, XM_011523548.3:c.1495C>A, XM_011523548.2:c.1495C>T, XM_011523548.2:c.1495C>A, XM_011523548.1:c.1495C>T, XM_011523548.1:c.1495C>A, XM_011523549.4:c.1495C>T, XM_011523549.4:c.1495C>A, XM_011523549.3:c.1495C>T, XM_011523549.3:c.1495C>A, XM_011523549.2:c.1495C>T, XM_011523549.2:c.1495C>A, XM_011523549.1:c.1495C>T, XM_011523549.1:c.1495C>A, NM_198082.4:c.1495C>T, NM_198082.4:c.1495C>A, NM_198082.3:c.1495C>T, NM_198082.3:c.1495C>A, NM_198082.2:c.1495C>T, NM_198082.2:c.1495C>A, XM_011523557.4:c.376C>T, XM_011523557.4:c.376C>A, XM_011523557.3:c.376C>T, XM_011523557.3:c.376C>A, XM_011523557.2:c.376C>T, XM_011523557.2:c.376C>A, XM_011523557.1:c.376C>T, XM_011523557.1:c.376C>A, NM_001316321.3:c.1495C>T, NM_001316321.3:c.1495C>A, NM_001316321.2:c.1495C>T, NM_001316321.2:c.1495C>A, NM_001316321.1:c.1495C>T, NM_001316321.1:c.1495C>A, XM_017024464.3:c.1765C>T, XM_017024464.3:c.1765C>A, XM_017024464.2:c.1495C>T, XM_017024464.2:c.1495C>A, XM_017024464.1:c.1495C>T, XM_017024464.1:c.1495C>A, XM_017024467.3:c.1495C>T, XM_017024467.3:c.1495C>A, XM_017024467.2:c.1495C>T, XM_017024467.2:c.1495C>A, XM_017024467.1:c.1495C>T, XM_017024467.1:c.1495C>A, XM_017024462.3:c.1765C>T, XM_017024462.3:c.1765C>A, XM_017024462.2:c.1765C>T, XM_017024462.2:c.1765C>A, XM_017024462.1:c.1765C>T, XM_017024462.1:c.1765C>A, XM_017024463.3:c.1765C>T, XM_017024463.3:c.1765C>A, XM_017024463.2:c.1495C>T, XM_017024463.2:c.1495C>A, XM_017024463.1:c.1495C>T, XM_017024463.1:c.1495C>A, XM_017024469.3:c.1243C>T, XM_017024469.3:c.1243C>A, XM_017024469.2:c.1243C>T, XM_017024469.2:c.1243C>A, XM_017024469.1:c.1243C>T, XM_017024469.1:c.1243C>A, XR_001752485.3:n.1831C>T, XR_001752485.3:n.1831C>A, XR_001752485.2:n.1760C>T, XR_001752485.2:n.1760C>A, XR_001752485.1:n.1759C>T, XR_001752485.1:n.1759C>A, XM_017024474.3:c.1765C>T, XM_017024474.3:c.1765C>A, XM_017024474.2:c.1495C>T, XM_017024474.2:c.1495C>A, XM_017024474.1:c.1495C>T, XM_017024474.1:c.1495C>A, XM_017024473.2:c.1765C>T, XM_017024473.2:c.1765C>A, XM_017024473.1:c.1495C>T, XM_017024473.1:c.1495C>A, NM_001367828.2:c.19C>T, NM_001367828.2:c.19C>A, NM_001367828.1:c.19C>T, NM_001367828.1:c.19C>A, XM_024450704.2:c.952C>T, XM_024450704.2:c.952C>A, XM_024450704.1:c.952C>T, XM_024450704.1:c.952C>A, XM_047435778.1:c.1555C>T, XM_047435778.1:c.1555C>A, XM_047435767.1:c.1555C>T, XM_047435767.1:c.1555C>A, XM_047435773.1:c.1555C>T, XM_047435773.1:c.1555C>A, XM_047435779.1:c.952C>T, XM_047435779.1:c.952C>A, XM_047435780.1:c.1555C>T, XM_047435780.1:c.1555C>A, XM_047435768.1:c.1555C>T, XM_047435768.1:c.1555C>A, XM_047435766.1:c.1555C>T, XM_047435766.1:c.1555C>A, XM_047435765.1:c.1765C>T, XM_047435765.1:c.1765C>A, XM_047435781.1:c.1555C>T, XM_047435781.1:c.1555C>A, XM_047435771.1:c.1330C>T, XM_047435771.1:c.1330C>A, NM_001394670.1:c.1495C>T, NM_001394670.1:c.1495C>A, XM_047435769.1:c.1765C>T, XM_047435769.1:c.1765C>A, XM_047435770.1:c.1765C>T, XM_047435770.1:c.1765C>A, XM_047435772.1:c.1330C>T, XM_047435772.1:c.1330C>A, XM_047435774.1:c.1495C>T, XM_047435774.1:c.1495C>A, XR_007065291.1:n.3329C>T, XR_007065291.1:n.3329C>A, XM_047435782.1:c.1555C>T, XM_047435782.1:c.1555C>A, XM_047435783.1:c.1555C>T, XM_047435783.1:c.1555C>A, NM_001394669.1:c.1495C>T, NM_001394669.1:c.1495C>A, XM_047435777.1:c.736C>T, XM_047435777.1:c.736C>A, XM_047435775.1:c.1141C>T, XM_047435775.1:c.1141C>A, XM_047435776.1:c.1765C>T, XM_047435776.1:c.1765C>A, XP_011521857.1:p.Pro318Ser, XP_011521857.1:p.Pro318Thr, XP_011521853.1:p.Pro499Ser, XP_011521853.1:p.Pro499Thr, XP_011521850.1:p.Pro499Ser, XP_011521850.1:p.Pro499Thr, XP_011521851.1:p.Pro499Ser, XP_011521851.1:p.Pro499Thr, NP_932348.2:p.Pro499Ser, NP_932348.2:p.Pro499Thr, XP_011521859.1:p.Pro126Ser, XP_011521859.1:p.Pro126Thr, NP_001303250.1:p.Pro499Ser, NP_001303250.1:p.Pro499Thr, XP_016879953.2:p.Pro589Ser, XP_016879953.2:p.Pro589Thr, XP_016879956.1:p.Pro499Ser, XP_016879956.1:p.Pro499Thr, XP_016879951.1:p.Pro589Ser, XP_016879951.1:p.Pro589Thr, XP_016879952.2:p.Pro589Ser, XP_016879952.2:p.Pro589Thr, XP_016879958.1:p.Pro415Ser, XP_016879958.1:p.Pro415Thr, XP_016879963.2:p.Pro589Ser, XP_016879963.2:p.Pro589Thr, XP_016879962.2:p.Pro589Ser, XP_016879962.2:p.Pro589Thr, NP_001354757.1:p.Pro7Ser, NP_001354757.1:p.Pro7Thr, XP_024306472.1:p.Pro318Ser, XP_024306472.1:p.Pro318Thr, XP_047291734.1:p.Pro519Ser, XP_047291734.1:p.Pro519Thr, XP_047291723.1:p.Pro519Ser, XP_047291723.1:p.Pro519Thr, XP_047291729.1:p.Pro519Ser, XP_047291729.1:p.Pro519Thr, XP_047291735.1:p.Pro318Ser, XP_047291735.1:p.Pro318Thr, XP_047291736.1:p.Pro519Ser, XP_047291736.1:p.Pro519Thr, XP_047291724.1:p.Pro519Ser, XP_047291724.1:p.Pro519Thr, XP_047291722.1:p.Pro519Ser, XP_047291722.1:p.Pro519Thr, XP_047291721.1:p.Pro589Ser, XP_047291721.1:p.Pro589Thr, XP_047291737.1:p.Pro519Ser, XP_047291737.1:p.Pro519Thr, XP_047291727.1:p.Pro444Ser, XP_047291727.1:p.Pro444Thr, NP_001381599.1:p.Pro499Ser, NP_001381599.1:p.Pro499Thr, XP_047291725.1:p.Pro589Ser, XP_047291725.1:p.Pro589Thr, XP_047291726.1:p.Pro589Ser, XP_047291726.1:p.Pro589Thr, XP_047291728.1:p.Pro444Ser, XP_047291728.1:p.Pro444Thr, XP_047291730.1:p.Pro499Ser, XP_047291730.1:p.Pro499Thr, XP_047291738.1:p.Pro519Ser, XP_047291738.1:p.Pro519Thr, XP_047291739.1:p.Pro519Ser, XP_047291739.1:p.Pro519Thr, NP_001381598.1:p.Pro499Ser, NP_001381598.1:p.Pro499Thr, XP_047291733.1:p.Pro246Ser, XP_047291733.1:p.Pro246Thr, XP_047291731.1:p.Pro381Ser, XP_047291731.1:p.Pro381Thr, XP_047291732.1:p.Pro589Ser, XP_047291732.1:p.Pro589Thr

                8.

                rs1486071913 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:82201640 (GRCh38)
                  17:80159516 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82201639:A:G
                  Gene:
                  CCDC57 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000017.11:g.82201640A>G, NC_000017.10:g.80159516A>G, XM_011523551.4:c.305T>C, XM_011523551.3:c.305T>C, XM_011523551.2:c.305T>C, XM_011523551.1:c.305T>C, XM_011523548.4:c.305T>C, XM_011523548.3:c.305T>C, XM_011523548.2:c.305T>C, XM_011523548.1:c.305T>C, XM_011523549.4:c.305T>C, XM_011523549.3:c.305T>C, XM_011523549.2:c.305T>C, XM_011523549.1:c.305T>C, NM_198082.4:c.305T>C, NM_198082.3:c.305T>C, NM_198082.2:c.305T>C, NM_001316321.3:c.305T>C, NM_001316321.2:c.305T>C, NM_001316321.1:c.305T>C, XM_017024464.3:c.575T>C, XM_017024464.2:c.305T>C, XM_017024464.1:c.305T>C, XM_017024467.3:c.305T>C, XM_017024467.2:c.305T>C, XM_017024467.1:c.305T>C, XM_017024462.3:c.575T>C, XM_017024462.2:c.575T>C, XM_017024462.1:c.575T>C, XM_017024463.3:c.575T>C, XM_017024463.2:c.305T>C, XM_017024463.1:c.305T>C, XR_001752485.3:n.641T>C, XR_001752485.2:n.570T>C, XR_001752485.1:n.569T>C, XM_017024474.3:c.575T>C, XM_017024474.2:c.305T>C, XM_017024474.1:c.305T>C, XM_017024473.2:c.575T>C, XM_017024473.1:c.305T>C, XM_047435778.1:c.365T>C, XM_047435767.1:c.365T>C, XM_047435773.1:c.365T>C, XM_047435780.1:c.365T>C, XM_047435768.1:c.365T>C, XM_047435766.1:c.365T>C, XM_047435765.1:c.575T>C, XM_047435781.1:c.365T>C, NM_001394670.1:c.305T>C, XM_047435769.1:c.575T>C, XM_047435770.1:c.575T>C, XM_047435774.1:c.305T>C, XR_007065291.1:n.2139T>C, XM_047435782.1:c.365T>C, XM_047435783.1:c.365T>C, NM_001394669.1:c.305T>C, XM_047435776.1:c.575T>C, XP_011521853.1:p.Leu102Pro, XP_011521850.1:p.Leu102Pro, XP_011521851.1:p.Leu102Pro, NP_932348.2:p.Leu102Pro, NP_001303250.1:p.Leu102Pro, XP_016879953.2:p.Leu192Pro, XP_016879956.1:p.Leu102Pro, XP_016879951.1:p.Leu192Pro, XP_016879952.2:p.Leu192Pro, XP_016879963.2:p.Leu192Pro, XP_016879962.2:p.Leu192Pro, XP_047291734.1:p.Leu122Pro, XP_047291723.1:p.Leu122Pro, XP_047291729.1:p.Leu122Pro, XP_047291736.1:p.Leu122Pro, XP_047291724.1:p.Leu122Pro, XP_047291722.1:p.Leu122Pro, XP_047291721.1:p.Leu192Pro, XP_047291737.1:p.Leu122Pro, NP_001381599.1:p.Leu102Pro, XP_047291725.1:p.Leu192Pro, XP_047291726.1:p.Leu192Pro, XP_047291730.1:p.Leu102Pro, XP_047291738.1:p.Leu122Pro, XP_047291739.1:p.Leu122Pro, NP_001381598.1:p.Leu102Pro, XP_047291732.1:p.Leu192Pro

                  9.

                  rs1484566981 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:82195358 (GRCh38)
                    17:80153234 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82195357:G:A
                    Gene:
                    CCDC57 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000023/6 (TOPMED)
                    HGVS:
                    NC_000017.11:g.82195358G>A, NC_000017.10:g.80153234G>A, XM_011523555.4:c.-21C>T, XM_011523555.3:c.-21C>T, XM_011523555.2:c.-21C>T, XM_011523555.1:c.-21C>T, XM_011523551.4:c.523C>T, XM_011523551.3:c.523C>T, XM_011523551.2:c.523C>T, XM_011523551.1:c.523C>T, XM_011523548.4:c.523C>T, XM_011523548.3:c.523C>T, XM_011523548.2:c.523C>T, XM_011523548.1:c.523C>T, XM_011523549.4:c.523C>T, XM_011523549.3:c.523C>T, XM_011523549.2:c.523C>T, XM_011523549.1:c.523C>T, NM_198082.4:c.523C>T, NM_198082.3:c.523C>T, NM_198082.2:c.523C>T, NM_001316321.3:c.523C>T, NM_001316321.2:c.523C>T, NM_001316321.1:c.523C>T, XM_017024464.3:c.793C>T, XM_017024464.2:c.523C>T, XM_017024464.1:c.523C>T, XM_017024467.3:c.523C>T, XM_017024467.2:c.523C>T, XM_017024467.1:c.523C>T, XM_017024462.3:c.793C>T, XM_017024462.2:c.793C>T, XM_017024462.1:c.793C>T, XM_017024463.3:c.793C>T, XM_017024463.2:c.523C>T, XM_017024463.1:c.523C>T, XM_017024469.3:c.271C>T, XM_017024469.2:c.271C>T, XM_017024469.1:c.271C>T, XR_001752485.3:n.859C>T, XR_001752485.2:n.788C>T, XR_001752485.1:n.787C>T, XM_017024474.3:c.793C>T, XM_017024474.2:c.523C>T, XM_017024474.1:c.523C>T, XM_017024473.2:c.793C>T, XM_017024473.1:c.523C>T, NM_001367828.2:c.-942C>T, NM_001367828.1:c.-942C>T, XM_024450704.2:c.-21C>T, XM_024450704.1:c.-21C>T, XM_047435778.1:c.583C>T, XM_047435767.1:c.583C>T, XM_047435773.1:c.583C>T, XM_047435779.1:c.-21C>T, XM_047435780.1:c.583C>T, XM_047435768.1:c.583C>T, XM_047435766.1:c.583C>T, XM_047435765.1:c.793C>T, XM_047435781.1:c.583C>T, XM_047435771.1:c.358C>T, NM_001394670.1:c.523C>T, XM_047435769.1:c.793C>T, XM_047435770.1:c.793C>T, XM_047435772.1:c.358C>T, XM_047435774.1:c.523C>T, XR_007065291.1:n.2357C>T, XM_047435782.1:c.583C>T, XM_047435783.1:c.583C>T, NM_001394669.1:c.523C>T, XM_047435775.1:c.169C>T, XM_047435776.1:c.793C>T

                    10.

                    rs1484030545 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:82195335 (GRCh38)
                      17:80153211 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82195334:C:T
                      Gene:
                      CCDC57 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,initiator_codon_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.82195335C>T, NC_000017.10:g.80153211C>T, XM_011523555.4:c.3G>A, XM_011523555.3:c.3G>A, XM_011523555.2:c.3G>A, XM_011523555.1:c.3G>A, XM_011523551.4:c.546G>A, XM_011523551.3:c.546G>A, XM_011523551.2:c.546G>A, XM_011523551.1:c.546G>A, XM_011523548.4:c.546G>A, XM_011523548.3:c.546G>A, XM_011523548.2:c.546G>A, XM_011523548.1:c.546G>A, XM_011523549.4:c.546G>A, XM_011523549.3:c.546G>A, XM_011523549.2:c.546G>A, XM_011523549.1:c.546G>A, NM_198082.4:c.546G>A, NM_198082.3:c.546G>A, NM_198082.2:c.546G>A, NM_001316321.3:c.546G>A, NM_001316321.2:c.546G>A, NM_001316321.1:c.546G>A, XM_017024464.3:c.816G>A, XM_017024464.2:c.546G>A, XM_017024464.1:c.546G>A, XM_017024467.3:c.546G>A, XM_017024467.2:c.546G>A, XM_017024467.1:c.546G>A, XM_017024462.3:c.816G>A, XM_017024462.2:c.816G>A, XM_017024462.1:c.816G>A, XM_017024463.3:c.816G>A, XM_017024463.2:c.546G>A, XM_017024463.1:c.546G>A, XM_017024469.3:c.294G>A, XM_017024469.2:c.294G>A, XM_017024469.1:c.294G>A, XR_001752485.3:n.882G>A, XR_001752485.2:n.811G>A, XR_001752485.1:n.810G>A, XM_017024474.3:c.816G>A, XM_017024474.2:c.546G>A, XM_017024474.1:c.546G>A, XM_017024473.2:c.816G>A, XM_017024473.1:c.546G>A, NM_001367828.2:c.-919G>A, NM_001367828.1:c.-919G>A, XM_024450704.2:c.3G>A, XM_024450704.1:c.3G>A, XM_047435778.1:c.606G>A, XM_047435767.1:c.606G>A, XM_047435773.1:c.606G>A, XM_047435779.1:c.3G>A, XM_047435780.1:c.606G>A, XM_047435768.1:c.606G>A, XM_047435766.1:c.606G>A, XM_047435765.1:c.816G>A, XM_047435781.1:c.606G>A, XM_047435771.1:c.381G>A, NM_001394670.1:c.546G>A, XM_047435769.1:c.816G>A, XM_047435770.1:c.816G>A, XM_047435772.1:c.381G>A, XM_047435774.1:c.546G>A, XR_007065291.1:n.2380G>A, XM_047435782.1:c.606G>A, XM_047435783.1:c.606G>A, NM_001394669.1:c.546G>A, XM_047435775.1:c.192G>A, XM_047435776.1:c.816G>A, XP_011521857.1:p.Met1Ile, XP_011521853.1:p.Met182Ile, XP_011521850.1:p.Met182Ile, XP_011521851.1:p.Met182Ile, NP_932348.2:p.Met182Ile, NP_001303250.1:p.Met182Ile, XP_016879953.2:p.Met272Ile, XP_016879956.1:p.Met182Ile, XP_016879951.1:p.Met272Ile, XP_016879952.2:p.Met272Ile, XP_016879958.1:p.Met98Ile, XP_016879963.2:p.Met272Ile, XP_016879962.2:p.Met272Ile, XP_024306472.1:p.Met1Ile, XP_047291734.1:p.Met202Ile, XP_047291723.1:p.Met202Ile, XP_047291729.1:p.Met202Ile, XP_047291735.1:p.Met1Ile, XP_047291736.1:p.Met202Ile, XP_047291724.1:p.Met202Ile, XP_047291722.1:p.Met202Ile, XP_047291721.1:p.Met272Ile, XP_047291737.1:p.Met202Ile, XP_047291727.1:p.Met127Ile, NP_001381599.1:p.Met182Ile, XP_047291725.1:p.Met272Ile, XP_047291726.1:p.Met272Ile, XP_047291728.1:p.Met127Ile, XP_047291730.1:p.Met182Ile, XP_047291738.1:p.Met202Ile, XP_047291739.1:p.Met202Ile, NP_001381598.1:p.Met182Ile, XP_047291731.1:p.Met64Ile, XP_047291732.1:p.Met272Ile

                      11.

                      rs1483672112 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:82194040 (GRCh38)
                        17:80151916 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82194039:T:C
                        Gene:
                        CCDC57 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000017.11:g.82194040T>C, NC_000017.10:g.80151916T>C, XM_011523555.4:c.175A>G, XM_011523555.3:c.175A>G, XM_011523555.2:c.175A>G, XM_011523555.1:c.175A>G, XM_011523551.4:c.718A>G, XM_011523551.3:c.718A>G, XM_011523551.2:c.718A>G, XM_011523551.1:c.718A>G, XM_011523548.4:c.718A>G, XM_011523548.3:c.718A>G, XM_011523548.2:c.718A>G, XM_011523548.1:c.718A>G, XM_011523549.4:c.718A>G, XM_011523549.3:c.718A>G, XM_011523549.2:c.718A>G, XM_011523549.1:c.718A>G, NM_198082.4:c.718A>G, NM_198082.3:c.718A>G, NM_198082.2:c.718A>G, NM_001316321.3:c.718A>G, NM_001316321.2:c.718A>G, NM_001316321.1:c.718A>G, XM_017024464.3:c.988A>G, XM_017024464.2:c.718A>G, XM_017024464.1:c.718A>G, XM_017024467.3:c.718A>G, XM_017024467.2:c.718A>G, XM_017024467.1:c.718A>G, XM_017024462.3:c.988A>G, XM_017024462.2:c.988A>G, XM_017024462.1:c.988A>G, XM_017024463.3:c.988A>G, XM_017024463.2:c.718A>G, XM_017024463.1:c.718A>G, XM_017024469.3:c.466A>G, XM_017024469.2:c.466A>G, XM_017024469.1:c.466A>G, XR_001752485.3:n.1054A>G, XR_001752485.2:n.983A>G, XR_001752485.1:n.982A>G, XM_017024474.3:c.988A>G, XM_017024474.2:c.718A>G, XM_017024474.1:c.718A>G, XM_017024473.2:c.988A>G, XM_017024473.1:c.718A>G, NM_001367828.2:c.-747A>G, NM_001367828.1:c.-747A>G, XM_024450704.2:c.175A>G, XM_024450704.1:c.175A>G, XM_047435778.1:c.778A>G, XM_047435767.1:c.778A>G, XM_047435773.1:c.778A>G, XM_047435779.1:c.175A>G, XM_047435780.1:c.778A>G, XM_047435768.1:c.778A>G, XM_047435766.1:c.778A>G, XM_047435765.1:c.988A>G, XM_047435781.1:c.778A>G, XM_047435771.1:c.553A>G, NM_001394670.1:c.718A>G, XM_047435769.1:c.988A>G, XM_047435770.1:c.988A>G, XM_047435772.1:c.553A>G, XM_047435774.1:c.718A>G, XR_007065291.1:n.2552A>G, XM_047435782.1:c.778A>G, XM_047435783.1:c.778A>G, NM_001394669.1:c.718A>G, XM_047435777.1:c.-287A>G, XM_047435775.1:c.364A>G, XM_047435776.1:c.988A>G, XP_011521857.1:p.Arg59Gly, XP_011521853.1:p.Arg240Gly, XP_011521850.1:p.Arg240Gly, XP_011521851.1:p.Arg240Gly, NP_932348.2:p.Arg240Gly, NP_001303250.1:p.Arg240Gly, XP_016879953.2:p.Arg330Gly, XP_016879956.1:p.Arg240Gly, XP_016879951.1:p.Arg330Gly, XP_016879952.2:p.Arg330Gly, XP_016879958.1:p.Arg156Gly, XP_016879963.2:p.Arg330Gly, XP_016879962.2:p.Arg330Gly, XP_024306472.1:p.Arg59Gly, XP_047291734.1:p.Arg260Gly, XP_047291723.1:p.Arg260Gly, XP_047291729.1:p.Arg260Gly, XP_047291735.1:p.Arg59Gly, XP_047291736.1:p.Arg260Gly, XP_047291724.1:p.Arg260Gly, XP_047291722.1:p.Arg260Gly, XP_047291721.1:p.Arg330Gly, XP_047291737.1:p.Arg260Gly, XP_047291727.1:p.Arg185Gly, NP_001381599.1:p.Arg240Gly, XP_047291725.1:p.Arg330Gly, XP_047291726.1:p.Arg330Gly, XP_047291728.1:p.Arg185Gly, XP_047291730.1:p.Arg240Gly, XP_047291738.1:p.Arg260Gly, XP_047291739.1:p.Arg260Gly, NP_001381598.1:p.Arg240Gly, XP_047291731.1:p.Arg122Gly, XP_047291732.1:p.Arg330Gly

                        12.

                        rs1482725209 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:82172642 (GRCh38)
                          17:80130518 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82172641:A:G
                          Gene:
                          CCDC57 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000028/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000017.11:g.82172642A>G, NC_000017.10:g.80130518A>G, XM_011523555.4:c.1182T>C, XM_011523555.3:c.1182T>C, XM_011523555.2:c.1182T>C, XM_011523555.1:c.1182T>C, XM_011523551.4:c.1725T>C, XM_011523551.3:c.1725T>C, XM_011523551.2:c.1725T>C, XM_011523551.1:c.1725T>C, XM_011523548.4:c.1725T>C, XM_011523548.3:c.1725T>C, XM_011523548.2:c.1725T>C, XM_011523548.1:c.1725T>C, XM_011523549.4:c.1725T>C, XM_011523549.3:c.1725T>C, XM_011523549.2:c.1725T>C, XM_011523549.1:c.1725T>C, NM_198082.4:c.1725T>C, NM_198082.3:c.1725T>C, NM_198082.2:c.1725T>C, XM_011523557.4:c.606T>C, XM_011523557.3:c.606T>C, XM_011523557.2:c.606T>C, XM_011523557.1:c.606T>C, NM_001316321.3:c.1725T>C, NM_001316321.2:c.1725T>C, NM_001316321.1:c.1725T>C, XM_017024464.3:c.1995T>C, XM_017024464.2:c.1725T>C, XM_017024464.1:c.1725T>C, XM_017024467.3:c.1725T>C, XM_017024467.2:c.1725T>C, XM_017024467.1:c.1725T>C, XM_017024462.3:c.1995T>C, XM_017024462.2:c.1995T>C, XM_017024462.1:c.1995T>C, XM_017024463.3:c.1995T>C, XM_017024463.2:c.1725T>C, XM_017024463.1:c.1725T>C, XM_017024469.3:c.1473T>C, XM_017024469.2:c.1473T>C, XM_017024469.1:c.1473T>C, XR_001752485.3:n.2061T>C, XR_001752485.2:n.1990T>C, XR_001752485.1:n.1989T>C, XM_017024474.3:c.1995T>C, XM_017024474.2:c.1725T>C, XM_017024474.1:c.1725T>C, XM_017024473.2:c.1995T>C, XM_017024473.1:c.1725T>C, NM_001367828.2:c.249T>C, NM_001367828.1:c.249T>C, XM_024450704.2:c.1182T>C, XM_024450704.1:c.1182T>C, XM_047435778.1:c.1785T>C, XM_047435767.1:c.1785T>C, XM_047435773.1:c.1785T>C, XM_047435779.1:c.1182T>C, XM_047435780.1:c.1785T>C, XM_047435768.1:c.1785T>C, XM_047435766.1:c.1785T>C, XM_047435765.1:c.1995T>C, XM_047435781.1:c.1785T>C, XM_047435771.1:c.1560T>C, NM_001394670.1:c.1725T>C, XM_047435769.1:c.1995T>C, XM_047435770.1:c.1995T>C, XM_047435772.1:c.1560T>C, XM_047435774.1:c.1725T>C, NM_001394669.1:c.1725T>C, XM_047435777.1:c.966T>C, XM_047435775.1:c.1371T>C, XM_047435776.1:c.1995T>C

                          13.

                          rs1482432665 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            17:82201790 (GRCh38)
                            17:80159666 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82201789:C:A
                            Gene:
                            CCDC57 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000111/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.82201790C>A, NC_000017.10:g.80159666C>A, XM_011523551.4:c.155G>T, XM_011523551.3:c.155G>T, XM_011523551.2:c.155G>T, XM_011523551.1:c.155G>T, XM_011523548.4:c.155G>T, XM_011523548.3:c.155G>T, XM_011523548.2:c.155G>T, XM_011523548.1:c.155G>T, XM_011523549.4:c.155G>T, XM_011523549.3:c.155G>T, XM_011523549.2:c.155G>T, XM_011523549.1:c.155G>T, NM_198082.4:c.155G>T, NM_198082.3:c.155G>T, NM_198082.2:c.155G>T, NM_001316321.3:c.155G>T, NM_001316321.2:c.155G>T, NM_001316321.1:c.155G>T, XM_017024464.3:c.425G>T, XM_017024464.2:c.155G>T, XM_017024464.1:c.155G>T, XM_017024467.3:c.155G>T, XM_017024467.2:c.155G>T, XM_017024467.1:c.155G>T, XM_017024462.3:c.425G>T, XM_017024462.2:c.425G>T, XM_017024462.1:c.425G>T, XM_017024463.3:c.425G>T, XM_017024463.2:c.155G>T, XM_017024463.1:c.155G>T, XM_017024469.3:c.124G>T, XM_017024469.2:c.124G>T, XM_017024469.1:c.124G>T, XR_001752485.3:n.491G>T, XR_001752485.2:n.420G>T, XR_001752485.1:n.419G>T, XM_017024474.3:c.425G>T, XM_017024474.2:c.155G>T, XM_017024474.1:c.155G>T, XM_017024473.2:c.425G>T, XM_017024473.1:c.155G>T, NM_001367828.2:c.-1176G>T, NM_001367828.1:c.-1176G>T, XM_047435778.1:c.215G>T, XM_047435767.1:c.215G>T, XM_047435773.1:c.215G>T, XM_047435780.1:c.215G>T, XM_047435768.1:c.215G>T, XM_047435766.1:c.215G>T, XM_047435765.1:c.425G>T, XM_047435781.1:c.215G>T, XM_047435771.1:c.124G>T, NM_001394670.1:c.155G>T, XM_047435769.1:c.425G>T, XM_047435770.1:c.425G>T, XM_047435772.1:c.124G>T, XM_047435774.1:c.155G>T, XR_007065291.1:n.1989G>T, XM_047435782.1:c.215G>T, XM_047435783.1:c.215G>T, NM_001394669.1:c.155G>T, XM_047435775.1:c.-66G>T, XM_047435776.1:c.425G>T, XP_011521853.1:p.Cys52Phe, XP_011521850.1:p.Cys52Phe, XP_011521851.1:p.Cys52Phe, NP_932348.2:p.Cys52Phe, NP_001303250.1:p.Cys52Phe, XP_016879953.2:p.Cys142Phe, XP_016879956.1:p.Cys52Phe, XP_016879951.1:p.Cys142Phe, XP_016879952.2:p.Cys142Phe, XP_016879958.1:p.Ala42Ser, XP_016879963.2:p.Cys142Phe, XP_016879962.2:p.Cys142Phe, XP_047291734.1:p.Cys72Phe, XP_047291723.1:p.Cys72Phe, XP_047291729.1:p.Cys72Phe, XP_047291736.1:p.Cys72Phe, XP_047291724.1:p.Cys72Phe, XP_047291722.1:p.Cys72Phe, XP_047291721.1:p.Cys142Phe, XP_047291737.1:p.Cys72Phe, XP_047291727.1:p.Ala42Ser, NP_001381599.1:p.Cys52Phe, XP_047291725.1:p.Cys142Phe, XP_047291726.1:p.Cys142Phe, XP_047291728.1:p.Ala42Ser, XP_047291730.1:p.Cys52Phe, XP_047291738.1:p.Cys72Phe, XP_047291739.1:p.Cys72Phe, NP_001381598.1:p.Cys52Phe, XP_047291732.1:p.Cys142Phe

                            14.

                            rs1481450464 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              17:82198391 (GRCh38)
                              17:80156267 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82198390:C:G
                              Gene:
                              CCDC57 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.82198391C>G, NC_000017.10:g.80156267C>G, XM_011523555.4:c.-1713G>C, XM_011523551.4:c.439G>C, XM_011523551.3:c.439G>C, XM_011523551.2:c.439G>C, XM_011523551.1:c.439G>C, XM_011523548.4:c.439G>C, XM_011523548.3:c.439G>C, XM_011523548.2:c.439G>C, XM_011523548.1:c.439G>C, XM_011523549.4:c.439G>C, XM_011523549.3:c.439G>C, XM_011523549.2:c.439G>C, XM_011523549.1:c.439G>C, NM_198082.4:c.439G>C, NM_198082.3:c.439G>C, NM_198082.2:c.439G>C, NM_001316321.3:c.439G>C, NM_001316321.2:c.439G>C, NM_001316321.1:c.439G>C, XM_017024464.3:c.709G>C, XM_017024464.2:c.439G>C, XM_017024464.1:c.439G>C, XM_017024467.3:c.439G>C, XM_017024467.2:c.439G>C, XM_017024467.1:c.439G>C, XM_017024462.3:c.709G>C, XM_017024462.2:c.709G>C, XM_017024462.1:c.709G>C, XM_017024463.3:c.709G>C, XM_017024463.2:c.439G>C, XM_017024463.1:c.439G>C, XM_017024469.3:c.187G>C, XM_017024469.2:c.187G>C, XM_017024469.1:c.187G>C, XR_001752485.3:n.775G>C, XR_001752485.2:n.704G>C, XR_001752485.1:n.703G>C, XM_017024474.3:c.709G>C, XM_017024474.2:c.439G>C, XM_017024474.1:c.439G>C, XM_017024473.2:c.709G>C, XM_017024473.1:c.439G>C, NM_001367828.2:c.-1026G>C, NM_001367828.1:c.-1026G>C, XM_024450704.2:c.-82G>C, XM_024450704.1:c.-82G>C, XM_047435778.1:c.499G>C, XM_047435767.1:c.499G>C, XM_047435773.1:c.499G>C, XM_047435780.1:c.499G>C, XM_047435768.1:c.499G>C, XM_047435766.1:c.499G>C, XM_047435765.1:c.709G>C, XM_047435781.1:c.499G>C, XM_047435771.1:c.274G>C, NM_001394670.1:c.439G>C, XM_047435769.1:c.709G>C, XM_047435770.1:c.709G>C, XM_047435772.1:c.274G>C, XM_047435774.1:c.439G>C, XR_007065291.1:n.2273G>C, XM_047435782.1:c.499G>C, XM_047435783.1:c.499G>C, NM_001394669.1:c.439G>C, XM_047435775.1:c.85G>C, XM_047435776.1:c.709G>C, XP_011521853.1:p.Glu147Gln, XP_011521850.1:p.Glu147Gln, XP_011521851.1:p.Glu147Gln, NP_932348.2:p.Glu147Gln, NP_001303250.1:p.Glu147Gln, XP_016879953.2:p.Glu237Gln, XP_016879956.1:p.Glu147Gln, XP_016879951.1:p.Glu237Gln, XP_016879952.2:p.Glu237Gln, XP_016879958.1:p.Glu63Gln, XP_016879963.2:p.Glu237Gln, XP_016879962.2:p.Glu237Gln, XP_047291734.1:p.Glu167Gln, XP_047291723.1:p.Glu167Gln, XP_047291729.1:p.Glu167Gln, XP_047291736.1:p.Glu167Gln, XP_047291724.1:p.Glu167Gln, XP_047291722.1:p.Glu167Gln, XP_047291721.1:p.Glu237Gln, XP_047291737.1:p.Glu167Gln, XP_047291727.1:p.Glu92Gln, NP_001381599.1:p.Glu147Gln, XP_047291725.1:p.Glu237Gln, XP_047291726.1:p.Glu237Gln, XP_047291728.1:p.Glu92Gln, XP_047291730.1:p.Glu147Gln, XP_047291738.1:p.Glu167Gln, XP_047291739.1:p.Glu167Gln, NP_001381598.1:p.Glu147Gln, XP_047291731.1:p.Glu29Gln, XP_047291732.1:p.Glu237Gln

                              15.

                              rs1480895007 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                17:82179090 (GRCh38)
                                17:80136966 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82179089:A:G
                                Gene:
                                CCDC57 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                G=0.000008/2 (TOPMED)
                                G=0.000342/1 (KOREAN)
                                HGVS:
                                NC_000017.11:g.82179090A>G, NC_000017.10:g.80136966A>G, XM_011523555.4:c.768T>C, XM_011523555.3:c.768T>C, XM_011523555.2:c.768T>C, XM_011523555.1:c.768T>C, XM_011523551.4:c.1311T>C, XM_011523551.3:c.1311T>C, XM_011523551.2:c.1311T>C, XM_011523551.1:c.1311T>C, XM_011523548.4:c.1311T>C, XM_011523548.3:c.1311T>C, XM_011523548.2:c.1311T>C, XM_011523548.1:c.1311T>C, XM_011523549.4:c.1311T>C, XM_011523549.3:c.1311T>C, XM_011523549.2:c.1311T>C, XM_011523549.1:c.1311T>C, NM_198082.4:c.1311T>C, NM_198082.3:c.1311T>C, NM_198082.2:c.1311T>C, XM_011523557.4:c.192T>C, XM_011523557.3:c.192T>C, XM_011523557.2:c.192T>C, XM_011523557.1:c.192T>C, NM_001316321.3:c.1311T>C, NM_001316321.2:c.1311T>C, NM_001316321.1:c.1311T>C, XM_017024464.3:c.1581T>C, XM_017024464.2:c.1311T>C, XM_017024464.1:c.1311T>C, XM_017024467.3:c.1311T>C, XM_017024467.2:c.1311T>C, XM_017024467.1:c.1311T>C, XM_017024462.3:c.1581T>C, XM_017024462.2:c.1581T>C, XM_017024462.1:c.1581T>C, XM_017024463.3:c.1581T>C, XM_017024463.2:c.1311T>C, XM_017024463.1:c.1311T>C, XM_017024469.3:c.1059T>C, XM_017024469.2:c.1059T>C, XM_017024469.1:c.1059T>C, XR_001752485.3:n.1647T>C, XR_001752485.2:n.1576T>C, XR_001752485.1:n.1575T>C, XM_017024474.3:c.1581T>C, XM_017024474.2:c.1311T>C, XM_017024474.1:c.1311T>C, XM_017024473.2:c.1581T>C, XM_017024473.1:c.1311T>C, XM_024450704.2:c.768T>C, XM_024450704.1:c.768T>C, XM_047435778.1:c.1371T>C, XM_047435767.1:c.1371T>C, XM_047435773.1:c.1371T>C, XM_047435779.1:c.768T>C, XM_047435780.1:c.1371T>C, XM_047435768.1:c.1371T>C, XM_047435766.1:c.1371T>C, XM_047435765.1:c.1581T>C, XM_047435781.1:c.1371T>C, XM_047435771.1:c.1146T>C, NM_001394670.1:c.1311T>C, XM_047435769.1:c.1581T>C, XM_047435770.1:c.1581T>C, XM_047435772.1:c.1146T>C, XM_047435774.1:c.1311T>C, XR_007065291.1:n.3145T>C, XM_047435782.1:c.1371T>C, XM_047435783.1:c.1371T>C, NM_001394669.1:c.1311T>C, XM_047435777.1:c.552T>C, XM_047435775.1:c.957T>C, XM_047435776.1:c.1581T>C

                                16.

                                rs1480672842 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:82172763 (GRCh38)
                                  17:80130639 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:82172762:A:G
                                  Gene:
                                  CCDC57 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.82172763A>G, NC_000017.10:g.80130639A>G, XM_011523555.4:c.1061T>C, XM_011523555.3:c.1061T>C, XM_011523555.2:c.1061T>C, XM_011523555.1:c.1061T>C, XM_011523551.4:c.1604T>C, XM_011523551.3:c.1604T>C, XM_011523551.2:c.1604T>C, XM_011523551.1:c.1604T>C, XM_011523548.4:c.1604T>C, XM_011523548.3:c.1604T>C, XM_011523548.2:c.1604T>C, XM_011523548.1:c.1604T>C, XM_011523549.4:c.1604T>C, XM_011523549.3:c.1604T>C, XM_011523549.2:c.1604T>C, XM_011523549.1:c.1604T>C, NM_198082.4:c.1604T>C, NM_198082.3:c.1604T>C, NM_198082.2:c.1604T>C, XM_011523557.4:c.485T>C, XM_011523557.3:c.485T>C, XM_011523557.2:c.485T>C, XM_011523557.1:c.485T>C, NM_001316321.3:c.1604T>C, NM_001316321.2:c.1604T>C, NM_001316321.1:c.1604T>C, XM_017024464.3:c.1874T>C, XM_017024464.2:c.1604T>C, XM_017024464.1:c.1604T>C, XM_017024467.3:c.1604T>C, XM_017024467.2:c.1604T>C, XM_017024467.1:c.1604T>C, XM_017024462.3:c.1874T>C, XM_017024462.2:c.1874T>C, XM_017024462.1:c.1874T>C, XM_017024463.3:c.1874T>C, XM_017024463.2:c.1604T>C, XM_017024463.1:c.1604T>C, XM_017024469.3:c.1352T>C, XM_017024469.2:c.1352T>C, XM_017024469.1:c.1352T>C, XR_001752485.3:n.1940T>C, XR_001752485.2:n.1869T>C, XR_001752485.1:n.1868T>C, XM_017024474.3:c.1874T>C, XM_017024474.2:c.1604T>C, XM_017024474.1:c.1604T>C, XM_017024473.2:c.1874T>C, XM_017024473.1:c.1604T>C, NM_001367828.2:c.128T>C, NM_001367828.1:c.128T>C, XM_024450704.2:c.1061T>C, XM_024450704.1:c.1061T>C, XM_047435778.1:c.1664T>C, XM_047435767.1:c.1664T>C, XM_047435773.1:c.1664T>C, XM_047435779.1:c.1061T>C, XM_047435780.1:c.1664T>C, XM_047435768.1:c.1664T>C, XM_047435766.1:c.1664T>C, XM_047435765.1:c.1874T>C, XM_047435781.1:c.1664T>C, XM_047435771.1:c.1439T>C, NM_001394670.1:c.1604T>C, XM_047435769.1:c.1874T>C, XM_047435770.1:c.1874T>C, XM_047435772.1:c.1439T>C, XM_047435774.1:c.1604T>C, NM_001394669.1:c.1604T>C, XM_047435777.1:c.845T>C, XM_047435775.1:c.1250T>C, XM_047435776.1:c.1874T>C, XP_011521857.1:p.Ile354Thr, XP_011521853.1:p.Ile535Thr, XP_011521850.1:p.Ile535Thr, XP_011521851.1:p.Ile535Thr, NP_932348.2:p.Ile535Thr, XP_011521859.1:p.Ile162Thr, NP_001303250.1:p.Ile535Thr, XP_016879953.2:p.Ile625Thr, XP_016879956.1:p.Ile535Thr, XP_016879951.1:p.Ile625Thr, XP_016879952.2:p.Ile625Thr, XP_016879958.1:p.Ile451Thr, XP_016879963.2:p.Ile625Thr, XP_016879962.2:p.Ile625Thr, NP_001354757.1:p.Ile43Thr, XP_024306472.1:p.Ile354Thr, XP_047291734.1:p.Ile555Thr, XP_047291723.1:p.Ile555Thr, XP_047291729.1:p.Ile555Thr, XP_047291735.1:p.Ile354Thr, XP_047291736.1:p.Ile555Thr, XP_047291724.1:p.Ile555Thr, XP_047291722.1:p.Ile555Thr, XP_047291721.1:p.Ile625Thr, XP_047291737.1:p.Ile555Thr, XP_047291727.1:p.Ile480Thr, NP_001381599.1:p.Ile535Thr, XP_047291725.1:p.Ile625Thr, XP_047291726.1:p.Ile625Thr, XP_047291728.1:p.Ile480Thr, XP_047291730.1:p.Ile535Thr, NP_001381598.1:p.Ile535Thr, XP_047291733.1:p.Ile282Thr, XP_047291731.1:p.Ile417Thr, XP_047291732.1:p.Ile625Thr

                                  17.

                                  rs1476177936 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:82171820 (GRCh38)
                                    17:80129696 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82171819:G:C
                                    Gene:
                                    CCDC57 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.82171820G>C, NC_000017.10:g.80129696G>C, XM_011523555.4:c.1220C>G, XM_011523555.3:c.1220C>G, XM_011523555.2:c.1220C>G, XM_011523555.1:c.1220C>G, XM_011523551.4:c.1763C>G, XM_011523551.3:c.1763C>G, XM_011523551.2:c.1763C>G, XM_011523551.1:c.1763C>G, XM_011523548.4:c.1763C>G, XM_011523548.3:c.1763C>G, XM_011523548.2:c.1763C>G, XM_011523548.1:c.1763C>G, XM_011523549.4:c.1763C>G, XM_011523549.3:c.1763C>G, XM_011523549.2:c.1763C>G, XM_011523549.1:c.1763C>G, NM_198082.4:c.1763C>G, NM_198082.3:c.1763C>G, NM_198082.2:c.1763C>G, XM_011523557.4:c.644C>G, XM_011523557.3:c.644C>G, XM_011523557.2:c.644C>G, XM_011523557.1:c.644C>G, NM_001316321.3:c.1763C>G, NM_001316321.2:c.1763C>G, NM_001316321.1:c.1763C>G, XM_017024464.3:c.2033C>G, XM_017024464.2:c.1763C>G, XM_017024464.1:c.1763C>G, XM_017024467.3:c.1763C>G, XM_017024467.2:c.1763C>G, XM_017024467.1:c.1763C>G, XM_017024462.3:c.2033C>G, XM_017024462.2:c.2033C>G, XM_017024462.1:c.2033C>G, XM_017024463.3:c.2033C>G, XM_017024463.2:c.1763C>G, XM_017024463.1:c.1763C>G, XM_017024469.3:c.1511C>G, XM_017024469.2:c.1511C>G, XM_017024469.1:c.1511C>G, XR_001752485.3:n.2099C>G, XR_001752485.2:n.2028C>G, XR_001752485.1:n.2027C>G, XM_017024474.3:c.2033C>G, XM_017024474.2:c.1763C>G, XM_017024474.1:c.1763C>G, XM_017024473.2:c.2033C>G, XM_017024473.1:c.1763C>G, NM_001367828.2:c.287C>G, NM_001367828.1:c.287C>G, XM_024450704.2:c.1220C>G, XM_024450704.1:c.1220C>G, XM_047435778.1:c.1823C>G, XM_047435767.1:c.1823C>G, XM_047435773.1:c.1823C>G, XM_047435779.1:c.1220C>G, XM_047435780.1:c.1823C>G, XM_047435768.1:c.1823C>G, XM_047435766.1:c.1823C>G, XM_047435765.1:c.2033C>G, XM_047435781.1:c.1823C>G, XM_047435771.1:c.1598C>G, NM_001394670.1:c.1763C>G, XM_047435769.1:c.2033C>G, XM_047435770.1:c.2033C>G, XM_047435772.1:c.1598C>G, XM_047435774.1:c.1763C>G, NM_001394669.1:c.1763C>G, XM_047435777.1:c.1004C>G, XM_047435775.1:c.1409C>G, XM_047435776.1:c.2033C>G, XP_011521857.1:p.Thr407Ser, XP_011521853.1:p.Thr588Ser, XP_011521850.1:p.Thr588Ser, XP_011521851.1:p.Thr588Ser, NP_932348.2:p.Thr588Ser, XP_011521859.1:p.Thr215Ser, NP_001303250.1:p.Thr588Ser, XP_016879953.2:p.Thr678Ser, XP_016879956.1:p.Thr588Ser, XP_016879951.1:p.Thr678Ser, XP_016879952.2:p.Thr678Ser, XP_016879958.1:p.Thr504Ser, XP_016879963.2:p.Thr678Ser, XP_016879962.2:p.Thr678Ser, NP_001354757.1:p.Thr96Ser, XP_024306472.1:p.Thr407Ser, XP_047291734.1:p.Thr608Ser, XP_047291723.1:p.Thr608Ser, XP_047291729.1:p.Thr608Ser, XP_047291735.1:p.Thr407Ser, XP_047291736.1:p.Thr608Ser, XP_047291724.1:p.Thr608Ser, XP_047291722.1:p.Thr608Ser, XP_047291721.1:p.Thr678Ser, XP_047291737.1:p.Thr608Ser, XP_047291727.1:p.Thr533Ser, NP_001381599.1:p.Thr588Ser, XP_047291725.1:p.Thr678Ser, XP_047291726.1:p.Thr678Ser, XP_047291728.1:p.Thr533Ser, XP_047291730.1:p.Thr588Ser, NP_001381598.1:p.Thr588Ser, XP_047291733.1:p.Thr335Ser, XP_047291731.1:p.Thr470Ser, XP_047291732.1:p.Thr678Ser

                                    18.

                                    rs1475883361 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      17:82179100 (GRCh38)
                                      17:80136976 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82179099:C:G
                                      Gene:
                                      CCDC57 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.82179100C>G, NC_000017.10:g.80136976C>G, XM_011523555.4:c.758G>C, XM_011523555.3:c.758G>C, XM_011523555.2:c.758G>C, XM_011523555.1:c.758G>C, XM_011523551.4:c.1301G>C, XM_011523551.3:c.1301G>C, XM_011523551.2:c.1301G>C, XM_011523551.1:c.1301G>C, XM_011523548.4:c.1301G>C, XM_011523548.3:c.1301G>C, XM_011523548.2:c.1301G>C, XM_011523548.1:c.1301G>C, XM_011523549.4:c.1301G>C, XM_011523549.3:c.1301G>C, XM_011523549.2:c.1301G>C, XM_011523549.1:c.1301G>C, NM_198082.4:c.1301G>C, NM_198082.3:c.1301G>C, NM_198082.2:c.1301G>C, XM_011523557.4:c.182G>C, XM_011523557.3:c.182G>C, XM_011523557.2:c.182G>C, XM_011523557.1:c.182G>C, NM_001316321.3:c.1301G>C, NM_001316321.2:c.1301G>C, NM_001316321.1:c.1301G>C, XM_017024464.3:c.1571G>C, XM_017024464.2:c.1301G>C, XM_017024464.1:c.1301G>C, XM_017024467.3:c.1301G>C, XM_017024467.2:c.1301G>C, XM_017024467.1:c.1301G>C, XM_017024462.3:c.1571G>C, XM_017024462.2:c.1571G>C, XM_017024462.1:c.1571G>C, XM_017024463.3:c.1571G>C, XM_017024463.2:c.1301G>C, XM_017024463.1:c.1301G>C, XM_017024469.3:c.1049G>C, XM_017024469.2:c.1049G>C, XM_017024469.1:c.1049G>C, XR_001752485.3:n.1637G>C, XR_001752485.2:n.1566G>C, XR_001752485.1:n.1565G>C, XM_017024474.3:c.1571G>C, XM_017024474.2:c.1301G>C, XM_017024474.1:c.1301G>C, XM_017024473.2:c.1571G>C, XM_017024473.1:c.1301G>C, XM_024450704.2:c.758G>C, XM_024450704.1:c.758G>C, XM_047435778.1:c.1361G>C, XM_047435767.1:c.1361G>C, XM_047435773.1:c.1361G>C, XM_047435779.1:c.758G>C, XM_047435780.1:c.1361G>C, XM_047435768.1:c.1361G>C, XM_047435766.1:c.1361G>C, XM_047435765.1:c.1571G>C, XM_047435781.1:c.1361G>C, XM_047435771.1:c.1136G>C, NM_001394670.1:c.1301G>C, XM_047435769.1:c.1571G>C, XM_047435770.1:c.1571G>C, XM_047435772.1:c.1136G>C, XM_047435774.1:c.1301G>C, XR_007065291.1:n.3135G>C, XM_047435782.1:c.1361G>C, XM_047435783.1:c.1361G>C, NM_001394669.1:c.1301G>C, XM_047435777.1:c.542G>C, XM_047435775.1:c.947G>C, XM_047435776.1:c.1571G>C, XP_011521857.1:p.Cys253Ser, XP_011521853.1:p.Cys434Ser, XP_011521850.1:p.Cys434Ser, XP_011521851.1:p.Cys434Ser, NP_932348.2:p.Cys434Ser, XP_011521859.1:p.Cys61Ser, NP_001303250.1:p.Cys434Ser, XP_016879953.2:p.Cys524Ser, XP_016879956.1:p.Cys434Ser, XP_016879951.1:p.Cys524Ser, XP_016879952.2:p.Cys524Ser, XP_016879958.1:p.Cys350Ser, XP_016879963.2:p.Cys524Ser, XP_016879962.2:p.Cys524Ser, XP_024306472.1:p.Cys253Ser, XP_047291734.1:p.Cys454Ser, XP_047291723.1:p.Cys454Ser, XP_047291729.1:p.Cys454Ser, XP_047291735.1:p.Cys253Ser, XP_047291736.1:p.Cys454Ser, XP_047291724.1:p.Cys454Ser, XP_047291722.1:p.Cys454Ser, XP_047291721.1:p.Cys524Ser, XP_047291737.1:p.Cys454Ser, XP_047291727.1:p.Cys379Ser, NP_001381599.1:p.Cys434Ser, XP_047291725.1:p.Cys524Ser, XP_047291726.1:p.Cys524Ser, XP_047291728.1:p.Cys379Ser, XP_047291730.1:p.Cys434Ser, XP_047291738.1:p.Cys454Ser, XP_047291739.1:p.Cys454Ser, NP_001381598.1:p.Cys434Ser, XP_047291733.1:p.Cys181Ser, XP_047291731.1:p.Cys316Ser, XP_047291732.1:p.Cys524Ser

                                      19.

                                      rs1474905751 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        17:82183892 (GRCh38)
                                        17:80141768 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82183891:C:A
                                        Gene:
                                        CCDC57 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000017.11:g.82183892C>A, NC_000017.10:g.80141768C>A, XM_011523555.4:c.550G>T, XM_011523555.3:c.550G>T, XM_011523555.2:c.550G>T, XM_011523555.1:c.550G>T, XM_011523551.4:c.1093G>T, XM_011523551.3:c.1093G>T, XM_011523551.2:c.1093G>T, XM_011523551.1:c.1093G>T, XM_011523548.4:c.1093G>T, XM_011523548.3:c.1093G>T, XM_011523548.2:c.1093G>T, XM_011523548.1:c.1093G>T, XM_011523549.4:c.1093G>T, XM_011523549.3:c.1093G>T, XM_011523549.2:c.1093G>T, XM_011523549.1:c.1093G>T, NM_198082.4:c.1093G>T, NM_198082.3:c.1093G>T, NM_198082.2:c.1093G>T, XM_011523557.4:c.-27G>T, XM_011523557.3:c.-27G>T, XM_011523557.2:c.-27G>T, XM_011523557.1:c.-27G>T, NM_001316321.3:c.1093G>T, NM_001316321.2:c.1093G>T, NM_001316321.1:c.1093G>T, XM_017024464.3:c.1363G>T, XM_017024464.2:c.1093G>T, XM_017024464.1:c.1093G>T, XM_017024467.3:c.1093G>T, XM_017024467.2:c.1093G>T, XM_017024467.1:c.1093G>T, XM_017024462.3:c.1363G>T, XM_017024462.2:c.1363G>T, XM_017024462.1:c.1363G>T, XM_017024463.3:c.1363G>T, XM_017024463.2:c.1093G>T, XM_017024463.1:c.1093G>T, XM_017024469.3:c.841G>T, XM_017024469.2:c.841G>T, XM_017024469.1:c.841G>T, XR_001752485.3:n.1429G>T, XR_001752485.2:n.1358G>T, XR_001752485.1:n.1357G>T, XM_017024474.3:c.1363G>T, XM_017024474.2:c.1093G>T, XM_017024474.1:c.1093G>T, XM_017024473.2:c.1363G>T, XM_017024473.1:c.1093G>T, NM_001367828.2:c.-221G>T, NM_001367828.1:c.-221G>T, XM_024450704.2:c.550G>T, XM_024450704.1:c.550G>T, XM_047435778.1:c.1153G>T, XM_047435767.1:c.1153G>T, XM_047435773.1:c.1153G>T, XM_047435779.1:c.550G>T, XM_047435780.1:c.1153G>T, XM_047435768.1:c.1153G>T, XM_047435766.1:c.1153G>T, XM_047435765.1:c.1363G>T, XM_047435781.1:c.1153G>T, XM_047435771.1:c.928G>T, NM_001394670.1:c.1093G>T, XM_047435769.1:c.1363G>T, XM_047435770.1:c.1363G>T, XM_047435772.1:c.928G>T, XM_047435774.1:c.1093G>T, XR_007065291.1:n.2927G>T, XM_047435782.1:c.1153G>T, XM_047435783.1:c.1153G>T, NM_001394669.1:c.1093G>T, XM_047435777.1:c.334G>T, XM_047435775.1:c.739G>T, XM_047435776.1:c.1363G>T, XP_011521857.1:p.Ala184Ser, XP_011521853.1:p.Ala365Ser, XP_011521850.1:p.Ala365Ser, XP_011521851.1:p.Ala365Ser, NP_932348.2:p.Ala365Ser, NP_001303250.1:p.Ala365Ser, XP_016879953.2:p.Ala455Ser, XP_016879956.1:p.Ala365Ser, XP_016879951.1:p.Ala455Ser, XP_016879952.2:p.Ala455Ser, XP_016879958.1:p.Ala281Ser, XP_016879963.2:p.Ala455Ser, XP_016879962.2:p.Ala455Ser, XP_024306472.1:p.Ala184Ser, XP_047291734.1:p.Ala385Ser, XP_047291723.1:p.Ala385Ser, XP_047291729.1:p.Ala385Ser, XP_047291735.1:p.Ala184Ser, XP_047291736.1:p.Ala385Ser, XP_047291724.1:p.Ala385Ser, XP_047291722.1:p.Ala385Ser, XP_047291721.1:p.Ala455Ser, XP_047291737.1:p.Ala385Ser, XP_047291727.1:p.Ala310Ser, NP_001381599.1:p.Ala365Ser, XP_047291725.1:p.Ala455Ser, XP_047291726.1:p.Ala455Ser, XP_047291728.1:p.Ala310Ser, XP_047291730.1:p.Ala365Ser, XP_047291738.1:p.Ala385Ser, XP_047291739.1:p.Ala385Ser, NP_001381598.1:p.Ala365Ser, XP_047291733.1:p.Ala112Ser, XP_047291731.1:p.Ala247Ser, XP_047291732.1:p.Ala455Ser

                                        20.

                                        rs1473546557 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:82188373 (GRCh38)
                                          17:80146249 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82188372:C:T
                                          Gene:
                                          CCDC57 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000017.11:g.82188373C>T, NC_000017.10:g.80146249C>T, XM_011523555.4:c.355G>A, XM_011523555.3:c.355G>A, XM_011523555.2:c.355G>A, XM_011523555.1:c.355G>A, XM_011523551.4:c.898G>A, XM_011523551.3:c.898G>A, XM_011523551.2:c.898G>A, XM_011523551.1:c.898G>A, XM_011523548.4:c.898G>A, XM_011523548.3:c.898G>A, XM_011523548.2:c.898G>A, XM_011523548.1:c.898G>A, XM_011523549.4:c.898G>A, XM_011523549.3:c.898G>A, XM_011523549.2:c.898G>A, XM_011523549.1:c.898G>A, NM_198082.4:c.898G>A, NM_198082.3:c.898G>A, NM_198082.2:c.898G>A, NM_001316321.3:c.898G>A, NM_001316321.2:c.898G>A, NM_001316321.1:c.898G>A, XM_017024464.3:c.1168G>A, XM_017024464.2:c.898G>A, XM_017024464.1:c.898G>A, XM_017024467.3:c.898G>A, XM_017024467.2:c.898G>A, XM_017024467.1:c.898G>A, XM_017024462.3:c.1168G>A, XM_017024462.2:c.1168G>A, XM_017024462.1:c.1168G>A, XM_017024463.3:c.1168G>A, XM_017024463.2:c.898G>A, XM_017024463.1:c.898G>A, XM_017024469.3:c.646G>A, XM_017024469.2:c.646G>A, XM_017024469.1:c.646G>A, XR_001752485.3:n.1234G>A, XR_001752485.2:n.1163G>A, XR_001752485.1:n.1162G>A, XM_017024474.3:c.1168G>A, XM_017024474.2:c.898G>A, XM_017024474.1:c.898G>A, XM_017024473.2:c.1168G>A, XM_017024473.1:c.898G>A, NM_001367828.2:c.-416G>A, NM_001367828.1:c.-416G>A, XM_024450704.2:c.355G>A, XM_024450704.1:c.355G>A, XM_047435778.1:c.958G>A, XM_047435767.1:c.958G>A, XM_047435773.1:c.958G>A, XM_047435779.1:c.355G>A, XM_047435780.1:c.958G>A, XM_047435768.1:c.958G>A, XM_047435766.1:c.958G>A, XM_047435765.1:c.1168G>A, XM_047435781.1:c.958G>A, XM_047435771.1:c.733G>A, NM_001394670.1:c.898G>A, XM_047435769.1:c.1168G>A, XM_047435770.1:c.1168G>A, XM_047435772.1:c.733G>A, XM_047435774.1:c.898G>A, XR_007065291.1:n.2732G>A, XM_047435782.1:c.958G>A, XM_047435783.1:c.958G>A, NM_001394669.1:c.898G>A, XM_047435777.1:c.139G>A, XM_047435775.1:c.544G>A, XM_047435776.1:c.1168G>A, XP_011521857.1:p.Val119Met, XP_011521853.1:p.Val300Met, XP_011521850.1:p.Val300Met, XP_011521851.1:p.Val300Met, NP_932348.2:p.Val300Met, NP_001303250.1:p.Val300Met, XP_016879953.2:p.Val390Met, XP_016879956.1:p.Val300Met, XP_016879951.1:p.Val390Met, XP_016879952.2:p.Val390Met, XP_016879958.1:p.Val216Met, XP_016879963.2:p.Val390Met, XP_016879962.2:p.Val390Met, XP_024306472.1:p.Val119Met, XP_047291734.1:p.Val320Met, XP_047291723.1:p.Val320Met, XP_047291729.1:p.Val320Met, XP_047291735.1:p.Val119Met, XP_047291736.1:p.Val320Met, XP_047291724.1:p.Val320Met, XP_047291722.1:p.Val320Met, XP_047291721.1:p.Val390Met, XP_047291737.1:p.Val320Met, XP_047291727.1:p.Val245Met, NP_001381599.1:p.Val300Met, XP_047291725.1:p.Val390Met, XP_047291726.1:p.Val390Met, XP_047291728.1:p.Val245Met, XP_047291730.1:p.Val300Met, XP_047291738.1:p.Val320Met, XP_047291739.1:p.Val320Met, NP_001381598.1:p.Val300Met, XP_047291733.1:p.Val47Met, XP_047291731.1:p.Val182Met, XP_047291732.1:p.Val390Met

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