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Items: 1 to 20 of 242

1.

rs1488489144 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    11:93754000 (GRCh38)
    11:93487166 (GRCh37)
    Canonical SPDI:
    NC_000011.10:93753999:G:A,NC_000011.10:93753999:G:T
    Gene:
    C11orf54 (Varview)
    Functional Consequence:
    missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000043/1 (ALFA)
    T=0.000007/1 (GnomAD)
    A=0.000008/2 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000011.10:g.93754000G>A, NC_000011.10:g.93754000G>T, NC_000011.9:g.93487166G>A, NC_000011.9:g.93487166G>T, XM_011542782.4:c.293G>A, XM_011542782.4:c.293G>T, XM_011542782.3:c.293G>A, XM_011542782.3:c.293G>T, XM_011542782.2:c.293G>A, XM_011542782.2:c.293G>T, XM_011542782.1:c.293G>A, XM_011542782.1:c.293G>T, NM_014039.4:c.293G>A, NM_014039.4:c.293G>T, NM_014039.3:c.293G>A, NM_014039.3:c.293G>T, NM_014039.2:c.293G>A, NM_014039.2:c.293G>T, NM_001351985.2:c.293G>A, NM_001351985.2:c.293G>T, NM_001351985.1:c.293G>A, NM_001351985.1:c.293G>T, NM_001351987.2:c.293G>A, NM_001351987.2:c.293G>T, NM_001351987.1:c.293G>A, NM_001351987.1:c.293G>T, NM_001351988.2:c.293G>A, NM_001351988.2:c.293G>T, NM_001351988.1:c.293G>A, NM_001351988.1:c.293G>T, NM_001351986.2:c.293G>A, NM_001351986.2:c.293G>T, NM_001351986.1:c.293G>A, NM_001351986.1:c.293G>T, NM_001351990.2:c.236G>A, NM_001351990.2:c.236G>T, NM_001351990.1:c.236G>A, NM_001351990.1:c.236G>T, NM_001286067.2:c.293G>A, NM_001286067.2:c.293G>T, NM_001286067.1:c.293G>A, NM_001286067.1:c.293G>T, NM_001351989.2:c.293G>A, NM_001351989.2:c.293G>T, NM_001351989.1:c.293G>A, NM_001351989.1:c.293G>T, NM_001286069.2:c.293G>A, NM_001286069.2:c.293G>T, NM_001286069.1:c.293G>A, NM_001286069.1:c.293G>T, NM_001286068.2:c.293G>A, NM_001286068.2:c.293G>T, NM_001286068.1:c.293G>A, NM_001286068.1:c.293G>T, NM_001369406.2:c.-41G>A, NM_001369406.2:c.-41G>T, NM_001369406.1:c.-41G>A, NM_001369406.1:c.-41G>T, NM_001286070.2:c.236G>A, NM_001286070.2:c.236G>T, NM_001286070.1:c.236G>A, NM_001286070.1:c.236G>T, NM_001351991.2:c.293G>A, NM_001351991.2:c.293G>T, NM_001351991.1:c.293G>A, NM_001351991.1:c.293G>T, NM_001286071.2:c.293G>A, NM_001286071.2:c.293G>T, NM_001286071.1:c.293G>A, NM_001286071.1:c.293G>T, NM_001351992.2:c.293G>A, NM_001351992.2:c.293G>T, NM_001351992.1:c.293G>A, NM_001351992.1:c.293G>T, XM_017017617.2:c.293G>A, XM_017017617.2:c.293G>T, XM_017017617.1:c.293G>A, XM_017017617.1:c.293G>T, NM_001351993.2:c.236G>A, NM_001351993.2:c.236G>T, NM_001351993.1:c.236G>A, NM_001351993.1:c.236G>T, XM_047426832.1:c.293G>A, XM_047426832.1:c.293G>T, XM_047426833.1:c.194G>A, XM_047426833.1:c.194G>T, XM_047426834.1:c.293G>A, XM_047426834.1:c.293G>T, XM_047426835.1:c.194G>A, XM_047426835.1:c.194G>T, XP_011541084.1:p.Gly98Glu, XP_011541084.1:p.Gly98Val, NP_054758.2:p.Gly98Glu, NP_054758.2:p.Gly98Val, NP_001338914.1:p.Gly98Glu, NP_001338914.1:p.Gly98Val, NP_001338916.1:p.Gly98Glu, NP_001338916.1:p.Gly98Val, NP_001338917.1:p.Gly98Glu, NP_001338917.1:p.Gly98Val, NP_001338915.1:p.Gly98Glu, NP_001338915.1:p.Gly98Val, NP_001338919.1:p.Gly79Glu, NP_001338919.1:p.Gly79Val, NP_001272996.1:p.Gly98Glu, NP_001272996.1:p.Gly98Val, NP_001338918.1:p.Gly98Glu, NP_001338918.1:p.Gly98Val, NP_001272998.1:p.Gly98Glu, NP_001272998.1:p.Gly98Val, NP_001272997.1:p.Gly98Glu, NP_001272997.1:p.Gly98Val, NP_001272999.1:p.Gly79Glu, NP_001272999.1:p.Gly79Val, NP_001338920.1:p.Gly98Glu, NP_001338920.1:p.Gly98Val, NP_001273000.1:p.Gly98Glu, NP_001273000.1:p.Gly98Val, NP_001338921.1:p.Gly98Glu, NP_001338921.1:p.Gly98Val, XP_016873106.1:p.Gly98Glu, XP_016873106.1:p.Gly98Val, NP_001338922.1:p.Gly79Glu, NP_001338922.1:p.Gly79Val, XP_047282788.1:p.Gly98Glu, XP_047282788.1:p.Gly98Val, XP_047282789.1:p.Gly65Glu, XP_047282789.1:p.Gly65Val, XP_047282790.1:p.Gly98Glu, XP_047282790.1:p.Gly98Val, XP_047282791.1:p.Gly65Glu, XP_047282791.1:p.Gly65Val

    2.

    rs1487876947 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      11:93755262 (GRCh38)
      11:93488428 (GRCh37)
      Canonical SPDI:
      NC_000011.10:93755261:G:A,NC_000011.10:93755261:G:T
      Gene:
      C11orf54 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      HGVS:
      NC_000011.10:g.93755262G>A, NC_000011.10:g.93755262G>T, NC_000011.9:g.93488428G>A, NC_000011.9:g.93488428G>T, XM_011542782.4:c.383G>A, XM_011542782.4:c.383G>T, XM_011542782.3:c.383G>A, XM_011542782.3:c.383G>T, XM_011542782.2:c.383G>A, XM_011542782.2:c.383G>T, XM_011542782.1:c.383G>A, XM_011542782.1:c.383G>T, NM_014039.4:c.383G>A, NM_014039.4:c.383G>T, NM_014039.3:c.383G>A, NM_014039.3:c.383G>T, NM_014039.2:c.383G>A, NM_014039.2:c.383G>T, NM_001351985.2:c.383G>A, NM_001351985.2:c.383G>T, NM_001351985.1:c.383G>A, NM_001351985.1:c.383G>T, NM_001351987.2:c.383G>A, NM_001351987.2:c.383G>T, NM_001351987.1:c.383G>A, NM_001351987.1:c.383G>T, NM_001351988.2:c.383G>A, NM_001351988.2:c.383G>T, NM_001351988.1:c.383G>A, NM_001351988.1:c.383G>T, NM_001351986.2:c.383G>A, NM_001351986.2:c.383G>T, NM_001351986.1:c.383G>A, NM_001351986.1:c.383G>T, NM_001351990.2:c.326G>A, NM_001351990.2:c.326G>T, NM_001351990.1:c.326G>A, NM_001351990.1:c.326G>T, NM_001286067.2:c.383G>A, NM_001286067.2:c.383G>T, NM_001286067.1:c.383G>A, NM_001286067.1:c.383G>T, NM_001351989.2:c.383G>A, NM_001351989.2:c.383G>T, NM_001351989.1:c.383G>A, NM_001351989.1:c.383G>T, NM_001286069.2:c.383G>A, NM_001286069.2:c.383G>T, NM_001286069.1:c.383G>A, NM_001286069.1:c.383G>T, NM_001286068.2:c.383G>A, NM_001286068.2:c.383G>T, NM_001286068.1:c.383G>A, NM_001286068.1:c.383G>T, NM_001369406.2:c.50G>A, NM_001369406.2:c.50G>T, NM_001369406.1:c.50G>A, NM_001369406.1:c.50G>T, NM_001286070.2:c.326G>A, NM_001286070.2:c.326G>T, NM_001286070.1:c.326G>A, NM_001286070.1:c.326G>T, NM_001351991.2:c.383G>A, NM_001351991.2:c.383G>T, NM_001351991.1:c.383G>A, NM_001351991.1:c.383G>T, NM_001351993.2:c.326G>A, NM_001351993.2:c.326G>T, NM_001351993.1:c.326G>A, NM_001351993.1:c.326G>T, XM_047426832.1:c.383G>A, XM_047426832.1:c.383G>T, XM_047426833.1:c.284G>A, XM_047426833.1:c.284G>T, XM_047426834.1:c.383G>A, XM_047426834.1:c.383G>T, XM_047426835.1:c.284G>A, XM_047426835.1:c.284G>T, XP_011541084.1:p.Ser128Asn, XP_011541084.1:p.Ser128Ile, NP_054758.2:p.Ser128Asn, NP_054758.2:p.Ser128Ile, NP_001338914.1:p.Ser128Asn, NP_001338914.1:p.Ser128Ile, NP_001338916.1:p.Ser128Asn, NP_001338916.1:p.Ser128Ile, NP_001338917.1:p.Ser128Asn, NP_001338917.1:p.Ser128Ile, NP_001338915.1:p.Ser128Asn, NP_001338915.1:p.Ser128Ile, NP_001338919.1:p.Ser109Asn, NP_001338919.1:p.Ser109Ile, NP_001272996.1:p.Ser128Asn, NP_001272996.1:p.Ser128Ile, NP_001338918.1:p.Ser128Asn, NP_001338918.1:p.Ser128Ile, NP_001272998.1:p.Ser128Asn, NP_001272998.1:p.Ser128Ile, NP_001272997.1:p.Ser128Asn, NP_001272997.1:p.Ser128Ile, NP_001356335.1:p.Ser17Asn, NP_001356335.1:p.Ser17Ile, NP_001272999.1:p.Ser109Asn, NP_001272999.1:p.Ser109Ile, NP_001338920.1:p.Ser128Asn, NP_001338920.1:p.Ser128Ile, NP_001338922.1:p.Ser109Asn, NP_001338922.1:p.Ser109Ile, XP_047282788.1:p.Ser128Asn, XP_047282788.1:p.Ser128Ile, XP_047282789.1:p.Ser95Asn, XP_047282789.1:p.Ser95Ile, XP_047282790.1:p.Ser128Asn, XP_047282790.1:p.Ser128Ile, XP_047282791.1:p.Ser95Asn, XP_047282791.1:p.Ser95Ile

      3.

      rs1479378721 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:93761634 (GRCh38)
        11:93494800 (GRCh37)
        Canonical SPDI:
        NC_000011.10:93761633:G:A
        Gene:
        C11orf54 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000019/5 (TOPMED)
        A=0.000029/4 (GnomAD)
        HGVS:
        NC_000011.10:g.93761634G>A, NC_000011.9:g.93494800G>A, XM_011542782.4:c.894G>A, XM_011542782.3:c.894G>A, XM_011542782.2:c.894G>A, XM_011542782.1:c.894G>A, NM_014039.4:c.744G>A, NM_014039.3:c.744G>A, NM_014039.2:c.744G>A, NM_001351985.2:c.894G>A, NM_001351985.1:c.894G>A, NM_001351987.2:c.894G>A, NM_001351987.1:c.894G>A, NM_001351988.2:c.894G>A, NM_001351988.1:c.894G>A, NM_001351986.2:c.894G>A, NM_001351986.1:c.894G>A, NM_001351990.2:c.837G>A, NM_001351990.1:c.837G>A, NM_001286067.2:c.894G>A, NM_001286067.1:c.894G>A, NM_001351989.2:c.894G>A, NM_001351989.1:c.894G>A, NM_001286069.2:c.894G>A, NM_001286069.1:c.894G>A, NM_001286068.2:c.894G>A, NM_001286068.1:c.894G>A, NM_001369406.2:c.561G>A, NM_001369406.1:c.561G>A, NM_001286070.2:c.837G>A, NM_001286070.1:c.837G>A, NM_001351991.2:c.744G>A, NM_001351991.1:c.744G>A, NM_001286071.2:c.717G>A, NM_001286071.1:c.717G>A, NM_001351992.2:c.717G>A, NM_001351992.1:c.717G>A, XM_017017617.2:c.717G>A, XM_017017617.1:c.717G>A, NM_001351993.2:c.687G>A, NM_001351993.1:c.687G>A, XM_047426832.1:c.894G>A, XM_047426833.1:c.795G>A, XM_047426834.1:c.744G>A, XM_047426835.1:c.645G>A

        4.

        rs1479013002 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:93755375 (GRCh38)
          11:93488541 (GRCh37)
          Canonical SPDI:
          NC_000011.10:93755374:C:T
          Gene:
          C11orf54 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,stop_gained
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.93755375C>T, NC_000011.9:g.93488541C>T, XM_011542782.4:c.496C>T, XM_011542782.3:c.496C>T, XM_011542782.2:c.496C>T, XM_011542782.1:c.496C>T, NM_014039.4:c.496C>T, NM_014039.3:c.496C>T, NM_014039.2:c.496C>T, NM_001351985.2:c.496C>T, NM_001351985.1:c.496C>T, NM_001351987.2:c.496C>T, NM_001351987.1:c.496C>T, NM_001351988.2:c.496C>T, NM_001351988.1:c.496C>T, NM_001351986.2:c.496C>T, NM_001351986.1:c.496C>T, NM_001351990.2:c.439C>T, NM_001351990.1:c.439C>T, NM_001286067.2:c.496C>T, NM_001286067.1:c.496C>T, NM_001351989.2:c.496C>T, NM_001351989.1:c.496C>T, NM_001286069.2:c.496C>T, NM_001286069.1:c.496C>T, NM_001286068.2:c.496C>T, NM_001286068.1:c.496C>T, NM_001369406.2:c.163C>T, NM_001369406.1:c.163C>T, NM_001286070.2:c.439C>T, NM_001286070.1:c.439C>T, NM_001351991.2:c.496C>T, NM_001351991.1:c.496C>T, NM_001351993.2:c.439C>T, NM_001351993.1:c.439C>T, XM_047426832.1:c.496C>T, XM_047426833.1:c.397C>T, XM_047426834.1:c.496C>T, XM_047426835.1:c.397C>T, XP_011541084.1:p.Gln166Ter, NP_054758.2:p.Gln166Ter, NP_001338914.1:p.Gln166Ter, NP_001338916.1:p.Gln166Ter, NP_001338917.1:p.Gln166Ter, NP_001338915.1:p.Gln166Ter, NP_001338919.1:p.Gln147Ter, NP_001272996.1:p.Gln166Ter, NP_001338918.1:p.Gln166Ter, NP_001272998.1:p.Gln166Ter, NP_001272997.1:p.Gln166Ter, NP_001356335.1:p.Gln55Ter, NP_001272999.1:p.Gln147Ter, NP_001338920.1:p.Gln166Ter, NP_001338922.1:p.Gln147Ter, XP_047282788.1:p.Gln166Ter, XP_047282789.1:p.Gln133Ter, XP_047282790.1:p.Gln166Ter, XP_047282791.1:p.Gln133Ter

          5.

          rs1478087797 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:93747407 (GRCh38)
            11:93480573 (GRCh37)
            Canonical SPDI:
            NC_000011.10:93747406:A:G
            Gene:
            C11orf54 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
            HGVS:
            NC_000011.10:g.93747407A>G, NC_000011.9:g.93480573A>G, XM_011542782.4:c.14A>G, XM_011542782.3:c.14A>G, XM_011542782.2:c.14A>G, XM_011542782.1:c.14A>G, NM_014039.4:c.14A>G, NM_014039.3:c.14A>G, NM_014039.2:c.14A>G, NM_001351985.2:c.14A>G, NM_001351985.1:c.14A>G, NM_001351987.2:c.14A>G, NM_001351987.1:c.14A>G, NM_001351988.2:c.14A>G, NM_001351988.1:c.14A>G, NM_001351986.2:c.14A>G, NM_001351986.1:c.14A>G, NM_001286067.2:c.14A>G, NM_001286067.1:c.14A>G, NM_001351989.2:c.14A>G, NM_001351989.1:c.14A>G, NM_001286069.2:c.14A>G, NM_001286069.1:c.14A>G, NM_001286068.2:c.14A>G, NM_001286068.1:c.14A>G, NM_001369406.2:c.-324A>G, NM_001369406.1:c.-324A>G, NM_001351991.2:c.14A>G, NM_001351991.1:c.14A>G, NM_001286071.2:c.14A>G, NM_001286071.1:c.14A>G, NM_001351992.2:c.14A>G, NM_001351992.1:c.14A>G, XM_017017617.2:c.14A>G, XM_017017617.1:c.14A>G, XM_047426832.1:c.14A>G, XM_047426833.1:c.14A>G, XM_047426834.1:c.14A>G, XM_047426835.1:c.14A>G, XP_011541084.1:p.Glu5Gly, NP_054758.2:p.Glu5Gly, NP_001338914.1:p.Glu5Gly, NP_001338916.1:p.Glu5Gly, NP_001338917.1:p.Glu5Gly, NP_001338915.1:p.Glu5Gly, NP_001272996.1:p.Glu5Gly, NP_001338918.1:p.Glu5Gly, NP_001272998.1:p.Glu5Gly, NP_001272997.1:p.Glu5Gly, NP_001338920.1:p.Glu5Gly, NP_001273000.1:p.Glu5Gly, NP_001338921.1:p.Glu5Gly, XP_016873106.1:p.Glu5Gly, XP_047282788.1:p.Glu5Gly, XP_047282789.1:p.Glu5Gly, XP_047282790.1:p.Glu5Gly, XP_047282791.1:p.Glu5Gly

            6.

            rs1477369969 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:93753748 (GRCh38)
              11:93486914 (GRCh37)
              Canonical SPDI:
              NC_000011.10:93753747:A:G
              Gene:
              C11orf54 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.93753748A>G, NC_000011.9:g.93486914A>G, XM_011542782.4:c.221A>G, XM_011542782.3:c.221A>G, XM_011542782.2:c.221A>G, XM_011542782.1:c.221A>G, NM_014039.4:c.221A>G, NM_014039.3:c.221A>G, NM_014039.2:c.221A>G, NM_001351985.2:c.221A>G, NM_001351985.1:c.221A>G, NM_001351987.2:c.221A>G, NM_001351987.1:c.221A>G, NM_001351988.2:c.221A>G, NM_001351988.1:c.221A>G, NM_001351986.2:c.221A>G, NM_001351986.1:c.221A>G, NM_001351990.2:c.164A>G, NM_001351990.1:c.164A>G, NM_001286067.2:c.221A>G, NM_001286067.1:c.221A>G, NM_001351989.2:c.221A>G, NM_001351989.1:c.221A>G, NM_001286069.2:c.221A>G, NM_001286069.1:c.221A>G, NM_001286068.2:c.221A>G, NM_001286068.1:c.221A>G, NM_001369406.2:c.-117A>G, NM_001369406.1:c.-117A>G, NM_001286070.2:c.164A>G, NM_001286070.1:c.164A>G, NM_001351991.2:c.221A>G, NM_001351991.1:c.221A>G, NM_001286071.2:c.221A>G, NM_001286071.1:c.221A>G, NM_001351992.2:c.221A>G, NM_001351992.1:c.221A>G, XM_017017617.2:c.221A>G, XM_017017617.1:c.221A>G, NM_001351993.2:c.164A>G, NM_001351993.1:c.164A>G, XM_047426832.1:c.221A>G, XM_047426833.1:c.122A>G, XM_047426834.1:c.221A>G, XM_047426835.1:c.122A>G, XP_011541084.1:p.Gln74Arg, NP_054758.2:p.Gln74Arg, NP_001338914.1:p.Gln74Arg, NP_001338916.1:p.Gln74Arg, NP_001338917.1:p.Gln74Arg, NP_001338915.1:p.Gln74Arg, NP_001338919.1:p.Gln55Arg, NP_001272996.1:p.Gln74Arg, NP_001338918.1:p.Gln74Arg, NP_001272998.1:p.Gln74Arg, NP_001272997.1:p.Gln74Arg, NP_001272999.1:p.Gln55Arg, NP_001338920.1:p.Gln74Arg, NP_001273000.1:p.Gln74Arg, NP_001338921.1:p.Gln74Arg, XP_016873106.1:p.Gln74Arg, NP_001338922.1:p.Gln55Arg, XP_047282788.1:p.Gln74Arg, XP_047282789.1:p.Gln41Arg, XP_047282790.1:p.Gln74Arg, XP_047282791.1:p.Gln41Arg

              7.

              rs1470403164 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>- [Show Flanks]
                Chromosome:
                11:93761660 (GRCh38)
                11:93494826 (GRCh37)
                Canonical SPDI:
                NC_000011.10:93761657:AAAA:AA
                Gene:
                C11orf54 (Varview)
                Functional Consequence:
                frameshift_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.93761660_93761661del, NC_000011.9:g.93494826_93494827del, XM_011542782.4:c.920_921del, XM_011542782.3:c.920_921del, XM_011542782.2:c.920_921del, XM_011542782.1:c.920_921del, NM_014039.4:c.770_771del, NM_014039.3:c.770_771del, NM_014039.2:c.770_771del, NM_001351985.2:c.920_921del, NM_001351985.1:c.920_921del, NM_001351987.2:c.920_921del, NM_001351987.1:c.920_921del, NM_001351988.2:c.920_921del, NM_001351988.1:c.920_921del, NM_001351986.2:c.920_921del, NM_001351986.1:c.920_921del, NM_001351990.2:c.863_864del, NM_001351990.1:c.863_864del, NM_001286067.2:c.920_921del, NM_001286067.1:c.920_921del, NM_001351989.2:c.920_921del, NM_001351989.1:c.920_921del, NM_001286069.2:c.920_921del, NM_001286069.1:c.920_921del, NM_001286068.2:c.920_921del, NM_001286068.1:c.920_921del, NM_001369406.2:c.587_588del, NM_001369406.1:c.587_588del, NM_001286070.2:c.863_864del, NM_001286070.1:c.863_864del, NM_001351991.2:c.770_771del, NM_001351991.1:c.770_771del, NM_001286071.2:c.743_744del, NM_001286071.1:c.743_744del, NM_001351992.2:c.743_744del, NM_001351992.1:c.743_744del, XM_017017617.2:c.743_744del, XM_017017617.1:c.743_744del, NM_001351993.2:c.713_714del, NM_001351993.1:c.713_714del, XM_047426832.1:c.920_921del, XM_047426833.1:c.821_822del, XM_047426834.1:c.770_771del, XM_047426835.1:c.671_672del, XP_011541084.1:p.Lys307fs, NP_054758.2:p.Lys257fs, NP_001338914.1:p.Lys307fs, NP_001338916.1:p.Lys307fs, NP_001338917.1:p.Lys307fs, NP_001338915.1:p.Lys307fs, NP_001338919.1:p.Lys288fs, NP_001272996.1:p.Lys307fs, NP_001338918.1:p.Lys307fs, NP_001272998.1:p.Lys307fs, NP_001272997.1:p.Lys307fs, NP_001356335.1:p.Lys196fs, NP_001272999.1:p.Lys288fs, NP_001338920.1:p.Lys257fs, NP_001273000.1:p.Lys248fs, NP_001338921.1:p.Lys248fs, XP_016873106.1:p.Lys248fs, NP_001338922.1:p.Lys238fs, XP_047282788.1:p.Lys307fs, XP_047282789.1:p.Lys274fs, XP_047282790.1:p.Lys257fs, XP_047282791.1:p.Lys224fs

                8.

                rs1465669773 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:93755233 (GRCh38)
                  11:93488399 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:93755232:A:G
                  Gene:
                  C11orf54 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000011.10:g.93755233A>G, NC_000011.9:g.93488399A>G, XM_011542782.4:c.354A>G, XM_011542782.3:c.354A>G, XM_011542782.2:c.354A>G, XM_011542782.1:c.354A>G, NM_014039.4:c.354A>G, NM_014039.3:c.354A>G, NM_014039.2:c.354A>G, NM_001351985.2:c.354A>G, NM_001351985.1:c.354A>G, NM_001351987.2:c.354A>G, NM_001351987.1:c.354A>G, NM_001351988.2:c.354A>G, NM_001351988.1:c.354A>G, NM_001351986.2:c.354A>G, NM_001351986.1:c.354A>G, NM_001351990.2:c.297A>G, NM_001351990.1:c.297A>G, NM_001286067.2:c.354A>G, NM_001286067.1:c.354A>G, NM_001351989.2:c.354A>G, NM_001351989.1:c.354A>G, NM_001286069.2:c.354A>G, NM_001286069.1:c.354A>G, NM_001286068.2:c.354A>G, NM_001286068.1:c.354A>G, NM_001369406.2:c.21A>G, NM_001369406.1:c.21A>G, NM_001286070.2:c.297A>G, NM_001286070.1:c.297A>G, NM_001351991.2:c.354A>G, NM_001351991.1:c.354A>G, NM_001351993.2:c.297A>G, NM_001351993.1:c.297A>G, XM_047426832.1:c.354A>G, XM_047426833.1:c.255A>G, XM_047426834.1:c.354A>G, XM_047426835.1:c.255A>G

                  9.

                  rs1462024372 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:93759807 (GRCh38)
                    11:93492973 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:93759806:T:C
                    Gene:
                    C11orf54 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.93759807T>C, NC_000011.9:g.93492973T>C, XM_011542782.4:c.723T>C, XM_011542782.3:c.723T>C, XM_011542782.2:c.723T>C, XM_011542782.1:c.723T>C, NM_014039.4:c.573T>C, NM_014039.3:c.573T>C, NM_014039.2:c.573T>C, NM_001351985.2:c.723T>C, NM_001351985.1:c.723T>C, NM_001351987.2:c.723T>C, NM_001351987.1:c.723T>C, NM_001351988.2:c.723T>C, NM_001351988.1:c.723T>C, NM_001351986.2:c.723T>C, NM_001351986.1:c.723T>C, NM_001351990.2:c.666T>C, NM_001351990.1:c.666T>C, NM_001286067.2:c.723T>C, NM_001286067.1:c.723T>C, NM_001351989.2:c.723T>C, NM_001351989.1:c.723T>C, NM_001286069.2:c.723T>C, NM_001286069.1:c.723T>C, NM_001286068.2:c.723T>C, NM_001286068.1:c.723T>C, NM_001369406.2:c.390T>C, NM_001369406.1:c.390T>C, NM_001286070.2:c.666T>C, NM_001286070.1:c.666T>C, NM_001351991.2:c.573T>C, NM_001351991.1:c.573T>C, NM_001286071.2:c.546T>C, NM_001286071.1:c.546T>C, NM_001351992.2:c.546T>C, NM_001351992.1:c.546T>C, XM_017017617.2:c.546T>C, XM_017017617.1:c.546T>C, NM_001351993.2:c.516T>C, NM_001351993.1:c.516T>C, XM_047426832.1:c.723T>C, XM_047426833.1:c.624T>C, XM_047426834.1:c.573T>C, XM_047426835.1:c.474T>C

                    10.

                    rs1461781017 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:93753747 (GRCh38)
                      11:93486913 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:93753746:C:A
                      Gene:
                      C11orf54 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000013/3 (GnomAD_exomes)
                      A=0.000022/3 (GnomAD)
                      HGVS:
                      NC_000011.10:g.93753747C>A, NC_000011.9:g.93486913C>A, XM_011542782.4:c.220C>A, XM_011542782.3:c.220C>A, XM_011542782.2:c.220C>A, XM_011542782.1:c.220C>A, NM_014039.4:c.220C>A, NM_014039.3:c.220C>A, NM_014039.2:c.220C>A, NM_001351985.2:c.220C>A, NM_001351985.1:c.220C>A, NM_001351987.2:c.220C>A, NM_001351987.1:c.220C>A, NM_001351988.2:c.220C>A, NM_001351988.1:c.220C>A, NM_001351986.2:c.220C>A, NM_001351986.1:c.220C>A, NM_001351990.2:c.163C>A, NM_001351990.1:c.163C>A, NM_001286067.2:c.220C>A, NM_001286067.1:c.220C>A, NM_001351989.2:c.220C>A, NM_001351989.1:c.220C>A, NM_001286069.2:c.220C>A, NM_001286069.1:c.220C>A, NM_001286068.2:c.220C>A, NM_001286068.1:c.220C>A, NM_001369406.2:c.-118C>A, NM_001369406.1:c.-118C>A, NM_001286070.2:c.163C>A, NM_001286070.1:c.163C>A, NM_001351991.2:c.220C>A, NM_001351991.1:c.220C>A, NM_001286071.2:c.220C>A, NM_001286071.1:c.220C>A, NM_001351992.2:c.220C>A, NM_001351992.1:c.220C>A, XM_017017617.2:c.220C>A, XM_017017617.1:c.220C>A, NM_001351993.2:c.163C>A, NM_001351993.1:c.163C>A, XM_047426832.1:c.220C>A, XM_047426833.1:c.121C>A, XM_047426834.1:c.220C>A, XM_047426835.1:c.121C>A, XP_011541084.1:p.Gln74Lys, NP_054758.2:p.Gln74Lys, NP_001338914.1:p.Gln74Lys, NP_001338916.1:p.Gln74Lys, NP_001338917.1:p.Gln74Lys, NP_001338915.1:p.Gln74Lys, NP_001338919.1:p.Gln55Lys, NP_001272996.1:p.Gln74Lys, NP_001338918.1:p.Gln74Lys, NP_001272998.1:p.Gln74Lys, NP_001272997.1:p.Gln74Lys, NP_001272999.1:p.Gln55Lys, NP_001338920.1:p.Gln74Lys, NP_001273000.1:p.Gln74Lys, NP_001338921.1:p.Gln74Lys, XP_016873106.1:p.Gln74Lys, NP_001338922.1:p.Gln55Lys, XP_047282788.1:p.Gln74Lys, XP_047282789.1:p.Gln41Lys, XP_047282790.1:p.Gln74Lys, XP_047282791.1:p.Gln41Lys

                      11.

                      rs1458994387 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:93753941 (GRCh38)
                        11:93487107 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:93753940:T:C
                        Gene:
                        C11orf54 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000028/1 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000015/4 (TOPMED)
                        C=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000011.10:g.93753941T>C, NC_000011.9:g.93487107T>C, XM_011542782.4:c.234T>C, XM_011542782.3:c.234T>C, XM_011542782.2:c.234T>C, XM_011542782.1:c.234T>C, NM_014039.4:c.234T>C, NM_014039.3:c.234T>C, NM_014039.2:c.234T>C, NM_001351985.2:c.234T>C, NM_001351985.1:c.234T>C, NM_001351987.2:c.234T>C, NM_001351987.1:c.234T>C, NM_001351988.2:c.234T>C, NM_001351988.1:c.234T>C, NM_001351986.2:c.234T>C, NM_001351986.1:c.234T>C, NM_001351990.2:c.177T>C, NM_001351990.1:c.177T>C, NM_001286067.2:c.234T>C, NM_001286067.1:c.234T>C, NM_001351989.2:c.234T>C, NM_001351989.1:c.234T>C, NM_001286069.2:c.234T>C, NM_001286069.1:c.234T>C, NM_001286068.2:c.234T>C, NM_001286068.1:c.234T>C, NM_001369406.2:c.-100T>C, NM_001369406.1:c.-100T>C, NM_001286070.2:c.177T>C, NM_001286070.1:c.177T>C, NM_001351991.2:c.234T>C, NM_001351991.1:c.234T>C, NM_001286071.2:c.234T>C, NM_001286071.1:c.234T>C, NM_001351992.2:c.234T>C, NM_001351992.1:c.234T>C, XM_017017617.2:c.234T>C, XM_017017617.1:c.234T>C, NM_001351993.2:c.177T>C, NM_001351993.1:c.177T>C, XM_047426832.1:c.234T>C, XM_047426833.1:c.135T>C, XM_047426834.1:c.234T>C, XM_047426835.1:c.135T>C

                        12.

                        rs1456207093 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:93755253 (GRCh38)
                          11:93488419 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:93755252:T:C
                          Gene:
                          C11orf54 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.93755253T>C, NC_000011.9:g.93488419T>C, XM_011542782.4:c.374T>C, XM_011542782.3:c.374T>C, XM_011542782.2:c.374T>C, XM_011542782.1:c.374T>C, NM_014039.4:c.374T>C, NM_014039.3:c.374T>C, NM_014039.2:c.374T>C, NM_001351985.2:c.374T>C, NM_001351985.1:c.374T>C, NM_001351987.2:c.374T>C, NM_001351987.1:c.374T>C, NM_001351988.2:c.374T>C, NM_001351988.1:c.374T>C, NM_001351986.2:c.374T>C, NM_001351986.1:c.374T>C, NM_001351990.2:c.317T>C, NM_001351990.1:c.317T>C, NM_001286067.2:c.374T>C, NM_001286067.1:c.374T>C, NM_001351989.2:c.374T>C, NM_001351989.1:c.374T>C, NM_001286069.2:c.374T>C, NM_001286069.1:c.374T>C, NM_001286068.2:c.374T>C, NM_001286068.1:c.374T>C, NM_001369406.2:c.41T>C, NM_001369406.1:c.41T>C, NM_001286070.2:c.317T>C, NM_001286070.1:c.317T>C, NM_001351991.2:c.374T>C, NM_001351991.1:c.374T>C, NM_001351993.2:c.317T>C, NM_001351993.1:c.317T>C, XM_047426832.1:c.374T>C, XM_047426833.1:c.275T>C, XM_047426834.1:c.374T>C, XM_047426835.1:c.275T>C, XP_011541084.1:p.Val125Ala, NP_054758.2:p.Val125Ala, NP_001338914.1:p.Val125Ala, NP_001338916.1:p.Val125Ala, NP_001338917.1:p.Val125Ala, NP_001338915.1:p.Val125Ala, NP_001338919.1:p.Val106Ala, NP_001272996.1:p.Val125Ala, NP_001338918.1:p.Val125Ala, NP_001272998.1:p.Val125Ala, NP_001272997.1:p.Val125Ala, NP_001356335.1:p.Val14Ala, NP_001272999.1:p.Val106Ala, NP_001338920.1:p.Val125Ala, NP_001338922.1:p.Val106Ala, XP_047282788.1:p.Val125Ala, XP_047282789.1:p.Val92Ala, XP_047282790.1:p.Val125Ala, XP_047282791.1:p.Val92Ala

                          13.

                          rs1456090721 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:93750349 (GRCh38)
                            11:93483515 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:93750348:T:C
                            Gene:
                            C11orf54 (Varview)
                            Functional Consequence:
                            missense_variant,initiator_codon_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.93750349T>C, NC_000011.9:g.93483515T>C, XM_011542782.4:c.59T>C, XM_011542782.3:c.59T>C, XM_011542782.2:c.59T>C, XM_011542782.1:c.59T>C, NM_014039.4:c.59T>C, NM_014039.3:c.59T>C, NM_014039.2:c.59T>C, NM_001351985.2:c.59T>C, NM_001351985.1:c.59T>C, NM_001351987.2:c.59T>C, NM_001351987.1:c.59T>C, NM_001351988.2:c.59T>C, NM_001351988.1:c.59T>C, NM_001351986.2:c.59T>C, NM_001351986.1:c.59T>C, NM_001351990.2:c.2T>C, NM_001351990.1:c.2T>C, NM_001286067.2:c.59T>C, NM_001286067.1:c.59T>C, NM_001351989.2:c.59T>C, NM_001351989.1:c.59T>C, NM_001286069.2:c.59T>C, NM_001286069.1:c.59T>C, NM_001286068.2:c.59T>C, NM_001286068.1:c.59T>C, NM_001369406.2:c.-279T>C, NM_001369406.1:c.-279T>C, NM_001286070.2:c.2T>C, NM_001286070.1:c.2T>C, NM_001351991.2:c.59T>C, NM_001351991.1:c.59T>C, NM_001286071.2:c.59T>C, NM_001286071.1:c.59T>C, NM_001351992.2:c.59T>C, NM_001351992.1:c.59T>C, XM_017017617.2:c.59T>C, XM_017017617.1:c.59T>C, NM_001351993.2:c.2T>C, NM_001351993.1:c.2T>C, XM_047426832.1:c.59T>C, XM_047426834.1:c.59T>C, XP_011541084.1:p.Met20Thr, NP_054758.2:p.Met20Thr, NP_001338914.1:p.Met20Thr, NP_001338916.1:p.Met20Thr, NP_001338917.1:p.Met20Thr, NP_001338915.1:p.Met20Thr, NP_001338919.1:p.Met1Thr, NP_001272996.1:p.Met20Thr, NP_001338918.1:p.Met20Thr, NP_001272998.1:p.Met20Thr, NP_001272997.1:p.Met20Thr, NP_001272999.1:p.Met1Thr, NP_001338920.1:p.Met20Thr, NP_001273000.1:p.Met20Thr, NP_001338921.1:p.Met20Thr, XP_016873106.1:p.Met20Thr, NP_001338922.1:p.Met1Thr, XP_047282788.1:p.Met20Thr, XP_047282790.1:p.Met20Thr

                            14.

                            rs1455756574 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              11:93755241 (GRCh38)
                              11:93488407 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:93755240:A:C
                              Gene:
                              C11orf54 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000011.10:g.93755241A>C, NC_000011.9:g.93488407A>C, XM_011542782.4:c.362A>C, XM_011542782.3:c.362A>C, XM_011542782.2:c.362A>C, XM_011542782.1:c.362A>C, NM_014039.4:c.362A>C, NM_014039.3:c.362A>C, NM_014039.2:c.362A>C, NM_001351985.2:c.362A>C, NM_001351985.1:c.362A>C, NM_001351987.2:c.362A>C, NM_001351987.1:c.362A>C, NM_001351988.2:c.362A>C, NM_001351988.1:c.362A>C, NM_001351986.2:c.362A>C, NM_001351986.1:c.362A>C, NM_001351990.2:c.305A>C, NM_001351990.1:c.305A>C, NM_001286067.2:c.362A>C, NM_001286067.1:c.362A>C, NM_001351989.2:c.362A>C, NM_001351989.1:c.362A>C, NM_001286069.2:c.362A>C, NM_001286069.1:c.362A>C, NM_001286068.2:c.362A>C, NM_001286068.1:c.362A>C, NM_001369406.2:c.29A>C, NM_001369406.1:c.29A>C, NM_001286070.2:c.305A>C, NM_001286070.1:c.305A>C, NM_001351991.2:c.362A>C, NM_001351991.1:c.362A>C, NM_001351993.2:c.305A>C, NM_001351993.1:c.305A>C, XM_047426832.1:c.362A>C, XM_047426833.1:c.263A>C, XM_047426834.1:c.362A>C, XM_047426835.1:c.263A>C, XP_011541084.1:p.His121Pro, NP_054758.2:p.His121Pro, NP_001338914.1:p.His121Pro, NP_001338916.1:p.His121Pro, NP_001338917.1:p.His121Pro, NP_001338915.1:p.His121Pro, NP_001338919.1:p.His102Pro, NP_001272996.1:p.His121Pro, NP_001338918.1:p.His121Pro, NP_001272998.1:p.His121Pro, NP_001272997.1:p.His121Pro, NP_001356335.1:p.His10Pro, NP_001272999.1:p.His102Pro, NP_001338920.1:p.His121Pro, NP_001338922.1:p.His102Pro, XP_047282788.1:p.His121Pro, XP_047282789.1:p.His88Pro, XP_047282790.1:p.His121Pro, XP_047282791.1:p.His88Pro

                              15.

                              rs1453444105 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G [Show Flanks]
                                Chromosome:
                                11:93761593 (GRCh38)
                                11:93494759 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:93761592:C:A,NC_000011.10:93761592:C:G
                                Gene:
                                C11orf54 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000011.10:g.93761593C>A, NC_000011.10:g.93761593C>G, NC_000011.9:g.93494759C>A, NC_000011.9:g.93494759C>G, XM_011542782.4:c.853C>A, XM_011542782.4:c.853C>G, XM_011542782.3:c.853C>A, XM_011542782.3:c.853C>G, XM_011542782.2:c.853C>A, XM_011542782.2:c.853C>G, XM_011542782.1:c.853C>A, XM_011542782.1:c.853C>G, NM_014039.4:c.703C>A, NM_014039.4:c.703C>G, NM_014039.3:c.703C>A, NM_014039.3:c.703C>G, NM_014039.2:c.703C>A, NM_014039.2:c.703C>G, NM_001351985.2:c.853C>A, NM_001351985.2:c.853C>G, NM_001351985.1:c.853C>A, NM_001351985.1:c.853C>G, NM_001351987.2:c.853C>A, NM_001351987.2:c.853C>G, NM_001351987.1:c.853C>A, NM_001351987.1:c.853C>G, NM_001351988.2:c.853C>A, NM_001351988.2:c.853C>G, NM_001351988.1:c.853C>A, NM_001351988.1:c.853C>G, NM_001351986.2:c.853C>A, NM_001351986.2:c.853C>G, NM_001351986.1:c.853C>A, NM_001351986.1:c.853C>G, NM_001351990.2:c.796C>A, NM_001351990.2:c.796C>G, NM_001351990.1:c.796C>A, NM_001351990.1:c.796C>G, NM_001286067.2:c.853C>A, NM_001286067.2:c.853C>G, NM_001286067.1:c.853C>A, NM_001286067.1:c.853C>G, NM_001351989.2:c.853C>A, NM_001351989.2:c.853C>G, NM_001351989.1:c.853C>A, NM_001351989.1:c.853C>G, NM_001286069.2:c.853C>A, NM_001286069.2:c.853C>G, NM_001286069.1:c.853C>A, NM_001286069.1:c.853C>G, NM_001286068.2:c.853C>A, NM_001286068.2:c.853C>G, NM_001286068.1:c.853C>A, NM_001286068.1:c.853C>G, NM_001369406.2:c.520C>A, NM_001369406.2:c.520C>G, NM_001369406.1:c.520C>A, NM_001369406.1:c.520C>G, NM_001286070.2:c.796C>A, NM_001286070.2:c.796C>G, NM_001286070.1:c.796C>A, NM_001286070.1:c.796C>G, NM_001351991.2:c.703C>A, NM_001351991.2:c.703C>G, NM_001351991.1:c.703C>A, NM_001351991.1:c.703C>G, NM_001286071.2:c.676C>A, NM_001286071.2:c.676C>G, NM_001286071.1:c.676C>A, NM_001286071.1:c.676C>G, NM_001351992.2:c.676C>A, NM_001351992.2:c.676C>G, NM_001351992.1:c.676C>A, NM_001351992.1:c.676C>G, XM_017017617.2:c.676C>A, XM_017017617.2:c.676C>G, XM_017017617.1:c.676C>A, XM_017017617.1:c.676C>G, NM_001351993.2:c.646C>A, NM_001351993.2:c.646C>G, NM_001351993.1:c.646C>A, NM_001351993.1:c.646C>G, XM_047426832.1:c.853C>A, XM_047426832.1:c.853C>G, XM_047426833.1:c.754C>A, XM_047426833.1:c.754C>G, XM_047426834.1:c.703C>A, XM_047426834.1:c.703C>G, XM_047426835.1:c.604C>A, XM_047426835.1:c.604C>G, XP_011541084.1:p.Pro285Thr, XP_011541084.1:p.Pro285Ala, NP_054758.2:p.Pro235Thr, NP_054758.2:p.Pro235Ala, NP_001338914.1:p.Pro285Thr, NP_001338914.1:p.Pro285Ala, NP_001338916.1:p.Pro285Thr, NP_001338916.1:p.Pro285Ala, NP_001338917.1:p.Pro285Thr, NP_001338917.1:p.Pro285Ala, NP_001338915.1:p.Pro285Thr, NP_001338915.1:p.Pro285Ala, NP_001338919.1:p.Pro266Thr, NP_001338919.1:p.Pro266Ala, NP_001272996.1:p.Pro285Thr, NP_001272996.1:p.Pro285Ala, NP_001338918.1:p.Pro285Thr, NP_001338918.1:p.Pro285Ala, NP_001272998.1:p.Pro285Thr, NP_001272998.1:p.Pro285Ala, NP_001272997.1:p.Pro285Thr, NP_001272997.1:p.Pro285Ala, NP_001356335.1:p.Pro174Thr, NP_001356335.1:p.Pro174Ala, NP_001272999.1:p.Pro266Thr, NP_001272999.1:p.Pro266Ala, NP_001338920.1:p.Pro235Thr, NP_001338920.1:p.Pro235Ala, NP_001273000.1:p.Pro226Thr, NP_001273000.1:p.Pro226Ala, NP_001338921.1:p.Pro226Thr, NP_001338921.1:p.Pro226Ala, XP_016873106.1:p.Pro226Thr, XP_016873106.1:p.Pro226Ala, NP_001338922.1:p.Pro216Thr, NP_001338922.1:p.Pro216Ala, XP_047282788.1:p.Pro285Thr, XP_047282788.1:p.Pro285Ala, XP_047282789.1:p.Pro252Thr, XP_047282789.1:p.Pro252Ala, XP_047282790.1:p.Pro235Thr, XP_047282790.1:p.Pro235Ala, XP_047282791.1:p.Pro202Thr, XP_047282791.1:p.Pro202Ala

                                16.

                                rs1449745569 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:93759780 (GRCh38)
                                  11:93492946 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:93759779:A:G
                                  Gene:
                                  C11orf54 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000016/4 (GnomAD_exomes)
                                  G=0.000033/4 (ExAC)
                                  HGVS:
                                  NC_000011.10:g.93759780A>G, NC_000011.9:g.93492946A>G, XM_011542782.4:c.696A>G, XM_011542782.3:c.696A>G, XM_011542782.2:c.696A>G, XM_011542782.1:c.696A>G, NM_014039.4:c.546A>G, NM_014039.3:c.546A>G, NM_014039.2:c.546A>G, NM_001351985.2:c.696A>G, NM_001351985.1:c.696A>G, NM_001351987.2:c.696A>G, NM_001351987.1:c.696A>G, NM_001351988.2:c.696A>G, NM_001351988.1:c.696A>G, NM_001351986.2:c.696A>G, NM_001351986.1:c.696A>G, NM_001351990.2:c.639A>G, NM_001351990.1:c.639A>G, NM_001286067.2:c.696A>G, NM_001286067.1:c.696A>G, NM_001351989.2:c.696A>G, NM_001351989.1:c.696A>G, NM_001286069.2:c.696A>G, NM_001286069.1:c.696A>G, NM_001286068.2:c.696A>G, NM_001286068.1:c.696A>G, NM_001369406.2:c.363A>G, NM_001369406.1:c.363A>G, NM_001286070.2:c.639A>G, NM_001286070.1:c.639A>G, NM_001351991.2:c.546A>G, NM_001351991.1:c.546A>G, NM_001286071.2:c.519A>G, NM_001286071.1:c.519A>G, NM_001351992.2:c.519A>G, NM_001351992.1:c.519A>G, XM_017017617.2:c.519A>G, XM_017017617.1:c.519A>G, NM_001351993.2:c.489A>G, NM_001351993.1:c.489A>G, XM_047426832.1:c.696A>G, XM_047426833.1:c.597A>G, XM_047426834.1:c.546A>G, XM_047426835.1:c.447A>G

                                  17.

                                  rs1447389369 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:93754025 (GRCh38)
                                    11:93487191 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:93754024:G:A
                                    Gene:
                                    C11orf54 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0./0 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.93754025G>A, NC_000011.9:g.93487191G>A, XM_011542782.4:c.318G>A, XM_011542782.3:c.318G>A, XM_011542782.2:c.318G>A, XM_011542782.1:c.318G>A, NM_014039.4:c.318G>A, NM_014039.3:c.318G>A, NM_014039.2:c.318G>A, NM_001351985.2:c.318G>A, NM_001351985.1:c.318G>A, NM_001351987.2:c.318G>A, NM_001351987.1:c.318G>A, NM_001351988.2:c.318G>A, NM_001351988.1:c.318G>A, NM_001351986.2:c.318G>A, NM_001351986.1:c.318G>A, NM_001351990.2:c.261G>A, NM_001351990.1:c.261G>A, NM_001286067.2:c.318G>A, NM_001286067.1:c.318G>A, NM_001351989.2:c.318G>A, NM_001351989.1:c.318G>A, NM_001286069.2:c.318G>A, NM_001286069.1:c.318G>A, NM_001286068.2:c.318G>A, NM_001286068.1:c.318G>A, NM_001369406.2:c.-16G>A, NM_001369406.1:c.-16G>A, NM_001286070.2:c.261G>A, NM_001286070.1:c.261G>A, NM_001351991.2:c.318G>A, NM_001351991.1:c.318G>A, NM_001286071.2:c.318G>A, NM_001286071.1:c.318G>A, NM_001351992.2:c.318G>A, NM_001351992.1:c.318G>A, XM_017017617.2:c.318G>A, XM_017017617.1:c.318G>A, NM_001351993.2:c.261G>A, NM_001351993.1:c.261G>A, XM_047426832.1:c.318G>A, XM_047426833.1:c.219G>A, XM_047426834.1:c.318G>A, XM_047426835.1:c.219G>A

                                    18.

                                    rs1446840116 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:93753698 (GRCh38)
                                      11:93486864 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:93753697:T:C
                                      Gene:
                                      C11orf54 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.93753698T>C, NC_000011.9:g.93486864T>C, XM_011542782.4:c.171T>C, XM_011542782.3:c.171T>C, XM_011542782.2:c.171T>C, XM_011542782.1:c.171T>C, NM_014039.4:c.171T>C, NM_014039.3:c.171T>C, NM_014039.2:c.171T>C, NM_001351985.2:c.171T>C, NM_001351985.1:c.171T>C, NM_001351987.2:c.171T>C, NM_001351987.1:c.171T>C, NM_001351988.2:c.171T>C, NM_001351988.1:c.171T>C, NM_001351986.2:c.171T>C, NM_001351986.1:c.171T>C, NM_001351990.2:c.114T>C, NM_001351990.1:c.114T>C, NM_001286067.2:c.171T>C, NM_001286067.1:c.171T>C, NM_001351989.2:c.171T>C, NM_001351989.1:c.171T>C, NM_001286069.2:c.171T>C, NM_001286069.1:c.171T>C, NM_001286068.2:c.171T>C, NM_001286068.1:c.171T>C, NM_001369406.2:c.-167T>C, NM_001369406.1:c.-167T>C, NM_001286070.2:c.114T>C, NM_001286070.1:c.114T>C, NM_001351991.2:c.171T>C, NM_001351991.1:c.171T>C, NM_001286071.2:c.171T>C, NM_001286071.1:c.171T>C, NM_001351992.2:c.171T>C, NM_001351992.1:c.171T>C, XM_017017617.2:c.171T>C, XM_017017617.1:c.171T>C, NM_001351993.2:c.114T>C, NM_001351993.1:c.114T>C, XM_047426832.1:c.171T>C, XM_047426833.1:c.72T>C, XM_047426834.1:c.171T>C, XM_047426835.1:c.72T>C

                                      19.

                                      rs1445526458 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        11:93750444 (GRCh38)
                                        11:93483610 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:93750443:G:T
                                        Gene:
                                        C11orf54 (Varview)
                                        Functional Consequence:
                                        intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.93750444G>T, NC_000011.9:g.93483610G>T, XM_011542782.4:c.154G>T, XM_011542782.3:c.154G>T, XM_011542782.2:c.154G>T, XM_011542782.1:c.154G>T, NM_014039.4:c.154G>T, NM_014039.3:c.154G>T, NM_014039.2:c.154G>T, NM_001351985.2:c.154G>T, NM_001351985.1:c.154G>T, NM_001351987.2:c.154G>T, NM_001351987.1:c.154G>T, NM_001351988.2:c.154G>T, NM_001351988.1:c.154G>T, NM_001351986.2:c.154G>T, NM_001351986.1:c.154G>T, NM_001351990.2:c.97G>T, NM_001351990.1:c.97G>T, NM_001286067.2:c.154G>T, NM_001286067.1:c.154G>T, NM_001351989.2:c.154G>T, NM_001351989.1:c.154G>T, NM_001286069.2:c.154G>T, NM_001286069.1:c.154G>T, NM_001286068.2:c.154G>T, NM_001286068.1:c.154G>T, NM_001369406.2:c.-184G>T, NM_001369406.1:c.-184G>T, NM_001286070.2:c.97G>T, NM_001286070.1:c.97G>T, NM_001351991.2:c.154G>T, NM_001351991.1:c.154G>T, NM_001286071.2:c.154G>T, NM_001286071.1:c.154G>T, NM_001351992.2:c.154G>T, NM_001351992.1:c.154G>T, XM_017017617.2:c.154G>T, XM_017017617.1:c.154G>T, NM_001351993.2:c.97G>T, NM_001351993.1:c.97G>T, XM_047426832.1:c.154G>T, XM_047426834.1:c.154G>T, XP_011541084.1:p.Gly52Cys, NP_054758.2:p.Gly52Cys, NP_001338914.1:p.Gly52Cys, NP_001338916.1:p.Gly52Cys, NP_001338917.1:p.Gly52Cys, NP_001338915.1:p.Gly52Cys, NP_001338919.1:p.Gly33Cys, NP_001272996.1:p.Gly52Cys, NP_001338918.1:p.Gly52Cys, NP_001272998.1:p.Gly52Cys, NP_001272997.1:p.Gly52Cys, NP_001272999.1:p.Gly33Cys, NP_001338920.1:p.Gly52Cys, NP_001273000.1:p.Gly52Cys, NP_001338921.1:p.Gly52Cys, XP_016873106.1:p.Gly52Cys, NP_001338922.1:p.Gly33Cys, XP_047282788.1:p.Gly52Cys, XP_047282790.1:p.Gly52Cys

                                        20.

                                        rs1438338211 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:93761572 (GRCh38)
                                          11:93494738 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:93761571:C:T
                                          Gene:
                                          C11orf54 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.93761572C>T, NC_000011.9:g.93494738C>T, XM_011542782.4:c.832C>T, XM_011542782.3:c.832C>T, XM_011542782.2:c.832C>T, XM_011542782.1:c.832C>T, NM_014039.4:c.682C>T, NM_014039.3:c.682C>T, NM_014039.2:c.682C>T, NM_001351985.2:c.832C>T, NM_001351985.1:c.832C>T, NM_001351987.2:c.832C>T, NM_001351987.1:c.832C>T, NM_001351988.2:c.832C>T, NM_001351988.1:c.832C>T, NM_001351986.2:c.832C>T, NM_001351986.1:c.832C>T, NM_001351990.2:c.775C>T, NM_001351990.1:c.775C>T, NM_001286067.2:c.832C>T, NM_001286067.1:c.832C>T, NM_001351989.2:c.832C>T, NM_001351989.1:c.832C>T, NM_001286069.2:c.832C>T, NM_001286069.1:c.832C>T, NM_001286068.2:c.832C>T, NM_001286068.1:c.832C>T, NM_001369406.2:c.499C>T, NM_001369406.1:c.499C>T, NM_001286070.2:c.775C>T, NM_001286070.1:c.775C>T, NM_001351991.2:c.682C>T, NM_001351991.1:c.682C>T, NM_001286071.2:c.655C>T, NM_001286071.1:c.655C>T, NM_001351992.2:c.655C>T, NM_001351992.1:c.655C>T, XM_017017617.2:c.655C>T, XM_017017617.1:c.655C>T, NM_001351993.2:c.625C>T, NM_001351993.1:c.625C>T, XM_047426832.1:c.832C>T, XM_047426833.1:c.733C>T, XM_047426834.1:c.682C>T, XM_047426835.1:c.583C>T, XP_011541084.1:p.His278Tyr, NP_054758.2:p.His228Tyr, NP_001338914.1:p.His278Tyr, NP_001338916.1:p.His278Tyr, NP_001338917.1:p.His278Tyr, NP_001338915.1:p.His278Tyr, NP_001338919.1:p.His259Tyr, NP_001272996.1:p.His278Tyr, NP_001338918.1:p.His278Tyr, NP_001272998.1:p.His278Tyr, NP_001272997.1:p.His278Tyr, NP_001356335.1:p.His167Tyr, NP_001272999.1:p.His259Tyr, NP_001338920.1:p.His228Tyr, NP_001273000.1:p.His219Tyr, NP_001338921.1:p.His219Tyr, XP_016873106.1:p.His219Tyr, NP_001338922.1:p.His209Tyr, XP_047282788.1:p.His278Tyr, XP_047282789.1:p.His245Tyr, XP_047282790.1:p.His228Tyr, XP_047282791.1:p.His195Tyr

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