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Items: 1 to 20 of 608

1.

rs1488749476 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:22550906 (GRCh38)
    22:22893328 (GRCh37)
    Canonical SPDI:
    NC_000022.11:22550905:G:A
    Gene:
    PRAME (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=0.000004/1 (TOPMED)
    A=0.000035/1 (TOMMO)
    HGVS:
    NC_000022.11:g.22550906G>A, NC_000022.10:g.22893328G>A, NG_000002.1:g.517316G>A, NT_187629.1:g.186563G>A, NM_006115.5:c.205C>T, NM_006115.4:c.205C>T, NM_006115.3:c.205C>T, XM_011530034.4:c.157C>T, XM_011530034.3:c.157C>T, XM_011530034.2:c.157C>T, XM_011530034.1:c.157C>T, NM_206954.3:c.205C>T, NM_206954.2:c.205C>T, NM_206954.1:c.205C>T, NM_206955.3:c.205C>T, NM_206955.2:c.205C>T, NM_206955.1:c.205C>T, NM_206953.3:c.205C>T, NM_206953.2:c.205C>T, NM_206953.1:c.205C>T, NM_206956.3:c.205C>T, NM_206956.2:c.205C>T, NM_206956.1:c.205C>T, NM_001318127.2:c.157C>T, NM_001318127.1:c.157C>T, NM_001291717.2:c.157C>T, NM_001291717.1:c.157C>T, NM_001291715.2:c.205C>T, NM_001291715.1:c.205C>T, NM_001291716.2:c.205C>T, NM_001291716.1:c.205C>T, NM_001318126.2:c.157C>T, NM_001318126.1:c.157C>T, NM_001291719.2:c.157C>T, NM_001291719.1:c.157C>T

    2.

    rs1488614070 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      22:22548248 (GRCh38)
      22:22890670 (GRCh37)
      Canonical SPDI:
      NC_000022.11:22548247:T:C
      Gene:
      PRAME (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000022.11:g.22548248T>C, NC_000022.10:g.22890670T>C, NG_000002.1:g.514658T>C, NT_187629.1:g.183905T>C, NM_006115.5:c.1349A>G, NM_006115.4:c.1349A>G, NM_006115.3:c.1349A>G, XM_011530034.4:c.1301A>G, XM_011530034.3:c.1301A>G, XM_011530034.2:c.1301A>G, XM_011530034.1:c.1301A>G, NM_206953.3:c.1349A>G, NM_206953.2:c.1349A>G, NM_206953.1:c.1349A>G, NM_206955.3:c.1349A>G, NM_206955.2:c.1349A>G, NM_206955.1:c.1349A>G, NM_206956.3:c.1349A>G, NM_206956.2:c.1349A>G, NM_206956.1:c.1349A>G, NM_206954.3:c.1349A>G, NM_206954.2:c.1349A>G, NM_206954.1:c.1349A>G, NM_001291717.2:c.1301A>G, NM_001291717.1:c.1301A>G, NM_001291715.2:c.1349A>G, NM_001291715.1:c.1349A>G, NM_001291716.2:c.1349A>G, NM_001291716.1:c.1349A>G, NM_001291719.2:c.1301A>G, NM_001291719.1:c.1301A>G, NM_001318127.2:c.1301A>G, NM_001318127.1:c.1301A>G, NM_001318126.2:c.1301A>G, NM_001318126.1:c.1301A>G, NP_006106.1:p.Asp450Gly, XP_011528336.1:p.Asp434Gly, NP_996836.1:p.Asp450Gly, NP_996838.1:p.Asp450Gly, NP_996839.1:p.Asp450Gly, NP_996837.1:p.Asp450Gly, NP_001278646.1:p.Asp434Gly, NP_001278644.1:p.Asp450Gly, NP_001278645.1:p.Asp450Gly, NP_001278648.1:p.Asp434Gly, NP_001305056.1:p.Asp434Gly, NP_001305055.1:p.Asp434Gly

      3.

      rs1488513362 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        22:22549763 (GRCh38)
        22:22892185 (GRCh37)
        Canonical SPDI:
        NC_000022.11:22549761:AAA:A
        Gene:
        PRAME (Varview)
        Functional Consequence:
        coding_sequence_variant,frameshift_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.22549763_22549764del, NC_000022.10:g.22892185_22892186del, NG_000002.1:g.516173_516174del, NT_187629.1:g.185420_185421del, NM_006115.5:c.916_917del, NM_006115.4:c.916_917del, NM_006115.3:c.916_917del, XM_011530034.4:c.868_869del, XM_011530034.3:c.868_869del, XM_011530034.2:c.868_869del, XM_011530034.1:c.868_869del, NM_206953.3:c.916_917del, NM_206953.2:c.916_917del, NM_206953.1:c.916_917del, NM_206955.3:c.916_917del, NM_206955.2:c.916_917del, NM_206955.1:c.916_917del, NM_206956.3:c.916_917del, NM_206956.2:c.916_917del, NM_206956.1:c.916_917del, NM_206954.3:c.916_917del, NM_206954.2:c.916_917del, NM_206954.1:c.916_917del, NM_001291717.2:c.868_869del, NM_001291717.1:c.868_869del, NM_001291715.2:c.916_917del, NM_001291715.1:c.916_917del, NM_001291716.2:c.916_917del, NM_001291716.1:c.916_917del, NM_001291719.2:c.868_869del, NM_001291719.1:c.868_869del, NM_001318127.2:c.868_869del, NM_001318127.1:c.868_869del, NM_001318126.2:c.868_869del, NM_001318126.1:c.868_869del, XR_952029.2:n.285_286del, XR_952029.1:n.292_293del, NP_006106.1:p.Leu306fs, XP_011528336.1:p.Leu290fs, NP_996836.1:p.Leu306fs, NP_996838.1:p.Leu306fs, NP_996839.1:p.Leu306fs, NP_996837.1:p.Leu306fs, NP_001278646.1:p.Leu290fs, NP_001278644.1:p.Leu306fs, NP_001278645.1:p.Leu306fs, NP_001278648.1:p.Leu290fs, NP_001305056.1:p.Leu290fs, NP_001305055.1:p.Leu290fs

        4.

        rs1486938625 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          22:22548249 (GRCh38)
          22:22890671 (GRCh37)
          Canonical SPDI:
          NC_000022.11:22548248:C:A,NC_000022.11:22548248:C:G,NC_000022.11:22548248:C:T
          Gene:
          PRAME (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000031/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000022.11:g.22548249C>A, NC_000022.11:g.22548249C>G, NC_000022.11:g.22548249C>T, NC_000022.10:g.22890671C>A, NC_000022.10:g.22890671C>G, NC_000022.10:g.22890671C>T, NG_000002.1:g.514659C>A, NG_000002.1:g.514659C>G, NG_000002.1:g.514659C>T, NT_187629.1:g.183906C>A, NT_187629.1:g.183906C>G, NT_187629.1:g.183906C>T, NM_006115.5:c.1348G>T, NM_006115.5:c.1348G>C, NM_006115.5:c.1348G>A, NM_006115.4:c.1348G>T, NM_006115.4:c.1348G>C, NM_006115.4:c.1348G>A, NM_006115.3:c.1348G>T, NM_006115.3:c.1348G>C, NM_006115.3:c.1348G>A, XM_011530034.4:c.1300G>T, XM_011530034.4:c.1300G>C, XM_011530034.4:c.1300G>A, XM_011530034.3:c.1300G>T, XM_011530034.3:c.1300G>C, XM_011530034.3:c.1300G>A, XM_011530034.2:c.1300G>T, XM_011530034.2:c.1300G>C, XM_011530034.2:c.1300G>A, XM_011530034.1:c.1300G>T, XM_011530034.1:c.1300G>C, XM_011530034.1:c.1300G>A, NM_206953.3:c.1348G>T, NM_206953.3:c.1348G>C, NM_206953.3:c.1348G>A, NM_206953.2:c.1348G>T, NM_206953.2:c.1348G>C, NM_206953.2:c.1348G>A, NM_206953.1:c.1348G>T, NM_206953.1:c.1348G>C, NM_206953.1:c.1348G>A, NM_206955.3:c.1348G>T, NM_206955.3:c.1348G>C, NM_206955.3:c.1348G>A, NM_206955.2:c.1348G>T, NM_206955.2:c.1348G>C, NM_206955.2:c.1348G>A, NM_206955.1:c.1348G>T, NM_206955.1:c.1348G>C, NM_206955.1:c.1348G>A, NM_206956.3:c.1348G>T, NM_206956.3:c.1348G>C, NM_206956.3:c.1348G>A, NM_206956.2:c.1348G>T, NM_206956.2:c.1348G>C, NM_206956.2:c.1348G>A, NM_206956.1:c.1348G>T, NM_206956.1:c.1348G>C, NM_206956.1:c.1348G>A, NM_206954.3:c.1348G>T, NM_206954.3:c.1348G>C, NM_206954.3:c.1348G>A, NM_206954.2:c.1348G>T, NM_206954.2:c.1348G>C, NM_206954.2:c.1348G>A, NM_206954.1:c.1348G>T, NM_206954.1:c.1348G>C, NM_206954.1:c.1348G>A, NM_001291717.2:c.1300G>T, NM_001291717.2:c.1300G>C, NM_001291717.2:c.1300G>A, NM_001291717.1:c.1300G>T, NM_001291717.1:c.1300G>C, NM_001291717.1:c.1300G>A, NM_001291715.2:c.1348G>T, NM_001291715.2:c.1348G>C, NM_001291715.2:c.1348G>A, NM_001291715.1:c.1348G>T, NM_001291715.1:c.1348G>C, NM_001291715.1:c.1348G>A, NM_001291716.2:c.1348G>T, NM_001291716.2:c.1348G>C, NM_001291716.2:c.1348G>A, NM_001291716.1:c.1348G>T, NM_001291716.1:c.1348G>C, NM_001291716.1:c.1348G>A, NM_001291719.2:c.1300G>T, NM_001291719.2:c.1300G>C, NM_001291719.2:c.1300G>A, NM_001291719.1:c.1300G>T, NM_001291719.1:c.1300G>C, NM_001291719.1:c.1300G>A, NM_001318127.2:c.1300G>T, NM_001318127.2:c.1300G>C, NM_001318127.2:c.1300G>A, NM_001318127.1:c.1300G>T, NM_001318127.1:c.1300G>C, NM_001318127.1:c.1300G>A, NM_001318126.2:c.1300G>T, NM_001318126.2:c.1300G>C, NM_001318126.2:c.1300G>A, NM_001318126.1:c.1300G>T, NM_001318126.1:c.1300G>C, NM_001318126.1:c.1300G>A, NP_006106.1:p.Asp450Tyr, NP_006106.1:p.Asp450His, NP_006106.1:p.Asp450Asn, XP_011528336.1:p.Asp434Tyr, XP_011528336.1:p.Asp434His, XP_011528336.1:p.Asp434Asn, NP_996836.1:p.Asp450Tyr, NP_996836.1:p.Asp450His, NP_996836.1:p.Asp450Asn, NP_996838.1:p.Asp450Tyr, NP_996838.1:p.Asp450His, NP_996838.1:p.Asp450Asn, NP_996839.1:p.Asp450Tyr, NP_996839.1:p.Asp450His, NP_996839.1:p.Asp450Asn, NP_996837.1:p.Asp450Tyr, NP_996837.1:p.Asp450His, NP_996837.1:p.Asp450Asn, NP_001278646.1:p.Asp434Tyr, NP_001278646.1:p.Asp434His, NP_001278646.1:p.Asp434Asn, NP_001278644.1:p.Asp450Tyr, NP_001278644.1:p.Asp450His, NP_001278644.1:p.Asp450Asn, NP_001278645.1:p.Asp450Tyr, NP_001278645.1:p.Asp450His, NP_001278645.1:p.Asp450Asn, NP_001278648.1:p.Asp434Tyr, NP_001278648.1:p.Asp434His, NP_001278648.1:p.Asp434Asn, NP_001305056.1:p.Asp434Tyr, NP_001305056.1:p.Asp434His, NP_001305056.1:p.Asp434Asn, NP_001305055.1:p.Asp434Tyr, NP_001305055.1:p.Asp434His, NP_001305055.1:p.Asp434Asn

          5.

          rs1485645219 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            22:22550963 (GRCh38)
            22:22893385 (GRCh37)
            Canonical SPDI:
            NC_000022.11:22550962:T:C
            Gene:
            PRAME (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000084/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000022.11:g.22550963T>C, NC_000022.10:g.22893385T>C, NG_000002.1:g.517373T>C, NT_187629.1:g.186620T>C, NM_006115.5:c.148A>G, NM_006115.4:c.148A>G, NM_006115.3:c.148A>G, XM_011530034.4:c.100A>G, XM_011530034.3:c.100A>G, XM_011530034.2:c.100A>G, XM_011530034.1:c.100A>G, NM_206956.3:c.148A>G, NM_206956.2:c.148A>G, NM_206956.1:c.148A>G, NM_206953.3:c.148A>G, NM_206953.2:c.148A>G, NM_206953.1:c.148A>G, NM_206955.3:c.148A>G, NM_206955.2:c.148A>G, NM_206955.1:c.148A>G, NM_206954.3:c.148A>G, NM_206954.2:c.148A>G, NM_206954.1:c.148A>G, NM_001318127.2:c.100A>G, NM_001318127.1:c.100A>G, NM_001291717.2:c.100A>G, NM_001291717.1:c.100A>G, NM_001291715.2:c.148A>G, NM_001291715.1:c.148A>G, NM_001291716.2:c.148A>G, NM_001291716.1:c.148A>G, NM_001318126.2:c.100A>G, NM_001318126.1:c.100A>G, NM_001291719.2:c.100A>G, NM_001291719.1:c.100A>G, NP_006106.1:p.Arg50Gly, XP_011528336.1:p.Arg34Gly, NP_996839.1:p.Arg50Gly, NP_996836.1:p.Arg50Gly, NP_996838.1:p.Arg50Gly, NP_996837.1:p.Arg50Gly, NP_001305056.1:p.Arg34Gly, NP_001278646.1:p.Arg34Gly, NP_001278644.1:p.Arg50Gly, NP_001278645.1:p.Arg50Gly, NP_001305055.1:p.Arg34Gly, NP_001278648.1:p.Arg34Gly

            6.

            rs1485617163 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              22:22556821 (GRCh38)
              22:22899241 (GRCh37)
              Canonical SPDI:
              NC_000022.11:22556820:C:A
              Gene:
              PRAME (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000051/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1485254884 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:22550769 (GRCh38)
                22:22893191 (GRCh37)
                Canonical SPDI:
                NC_000022.11:22550768:G:A
                Gene:
                PRAME (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000022.11:g.22550769G>A, NC_000022.10:g.22893191G>A, NG_000002.1:g.517179G>A, NT_187629.1:g.186426G>A, NM_006115.5:c.342C>T, NM_006115.4:c.342C>T, NM_006115.3:c.342C>T, XM_011530034.4:c.294C>T, XM_011530034.3:c.294C>T, XM_011530034.2:c.294C>T, XM_011530034.1:c.294C>T, NM_206956.3:c.342C>T, NM_206956.2:c.342C>T, NM_206956.1:c.342C>T, NM_206953.3:c.342C>T, NM_206953.2:c.342C>T, NM_206953.1:c.342C>T, NM_206955.3:c.342C>T, NM_206955.2:c.342C>T, NM_206955.1:c.342C>T, NM_206954.3:c.342C>T, NM_206954.2:c.342C>T, NM_206954.1:c.342C>T, NM_001318127.2:c.294C>T, NM_001318127.1:c.294C>T, NM_001291717.2:c.294C>T, NM_001291717.1:c.294C>T, NM_001291715.2:c.342C>T, NM_001291715.1:c.342C>T, NM_001291716.2:c.342C>T, NM_001291716.1:c.342C>T, NM_001318126.2:c.294C>T, NM_001318126.1:c.294C>T, NM_001291719.2:c.294C>T, NM_001291719.1:c.294C>T

                8.

                rs1483685997 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AAT>- [Show Flanks]
                  Chromosome:
                  22:22550091 (GRCh38)
                  22:22892513 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:22550090:AAT:
                  Gene:
                  PRAME (Varview)
                  Functional Consequence:
                  inframe_deletion,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.22550091_22550093del, NC_000022.10:g.22892513_22892515del, NG_000002.1:g.516501_516503del, NT_187629.1:g.185748_185750del, NM_006115.5:c.586_588del, NM_006115.4:c.586_588del, NM_006115.3:c.586_588del, XM_011530034.4:c.538_540del, XM_011530034.3:c.538_540del, XM_011530034.2:c.538_540del, XM_011530034.1:c.538_540del, NM_206956.3:c.586_588del, NM_206956.2:c.586_588del, NM_206956.1:c.586_588del, NM_206953.3:c.586_588del, NM_206953.2:c.586_588del, NM_206953.1:c.586_588del, NM_206955.3:c.586_588del, NM_206955.2:c.586_588del, NM_206955.1:c.586_588del, NM_206954.3:c.586_588del, NM_206954.2:c.586_588del, NM_206954.1:c.586_588del, NM_001318127.2:c.538_540del, NM_001318127.1:c.538_540del, NM_001291717.2:c.538_540del, NM_001291717.1:c.538_540del, NM_001291715.2:c.586_588del, NM_001291715.1:c.586_588del, NM_001291716.2:c.586_588del, NM_001291716.1:c.586_588del, NM_001318126.2:c.538_540del, NM_001318126.1:c.538_540del, NM_001291719.2:c.538_540del, NM_001291719.1:c.538_540del, NP_006106.1:p.Ile196del, XP_011528336.1:p.Ile180del, NP_996839.1:p.Ile196del, NP_996836.1:p.Ile196del, NP_996838.1:p.Ile196del, NP_996837.1:p.Ile196del, NP_001305056.1:p.Ile180del, NP_001278646.1:p.Ile180del, NP_001278644.1:p.Ile196del, NP_001278645.1:p.Ile196del, NP_001305055.1:p.Ile180del, NP_001278648.1:p.Ile180del

                  9.

                  rs1477599546 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    22:22549976 (GRCh38)
                    22:22892398 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:22549974:ATA:A
                    Gene:
                    PRAME (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000008/2 (GnomAD_exomes)
                    -=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000022.11:g.22549976_22549977del, NC_000022.10:g.22892398_22892399del, NG_000002.1:g.516386_516387del, NT_187629.1:g.185633_185634del, NM_006115.5:c.703_704del, NM_006115.4:c.703_704del, NM_006115.3:c.703_704del, XM_011530034.4:c.655_656del, XM_011530034.3:c.655_656del, XM_011530034.2:c.655_656del, XM_011530034.1:c.655_656del, NM_206956.3:c.703_704del, NM_206956.2:c.703_704del, NM_206956.1:c.703_704del, NM_206953.3:c.703_704del, NM_206953.2:c.703_704del, NM_206953.1:c.703_704del, NM_206955.3:c.703_704del, NM_206955.2:c.703_704del, NM_206955.1:c.703_704del, NM_206954.3:c.703_704del, NM_206954.2:c.703_704del, NM_206954.1:c.703_704del, NM_001318127.2:c.655_656del, NM_001318127.1:c.655_656del, NM_001291717.2:c.655_656del, NM_001291717.1:c.655_656del, NM_001291715.2:c.703_704del, NM_001291715.1:c.703_704del, NM_001291716.2:c.703_704del, NM_001291716.1:c.703_704del, NM_001318126.2:c.655_656del, NM_001318126.1:c.655_656del, NM_001291719.2:c.655_656del, NM_001291719.1:c.655_656del, NP_006106.1:p.Ser234_Ile235insTer, XP_011528336.1:p.Ser218_Ile219insTer, NP_996839.1:p.Ser234_Ile235insTer, NP_996836.1:p.Ser234_Ile235insTer, NP_996838.1:p.Ser234_Ile235insTer, NP_996837.1:p.Ser234_Ile235insTer, NP_001305056.1:p.Ser218_Ile219insTer, NP_001278646.1:p.Ser218_Ile219insTer, NP_001278644.1:p.Ser234_Ile235insTer, NP_001278645.1:p.Ser234_Ile235insTer, NP_001305055.1:p.Ser218_Ile219insTer, NP_001278648.1:p.Ser218_Ile219insTer

                    10.

                    rs1476017341 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      22:22548108 (GRCh38)
                      22:22890530 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:22548107:C:A
                      Gene:
                      PRAME (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000022.11:g.22548108C>A, NC_000022.10:g.22890530C>A, NG_000002.1:g.514518C>A, NT_187629.1:g.183765C>A, NM_006115.5:c.1489G>T, NM_006115.4:c.1489G>T, NM_006115.3:c.1489G>T, XM_011530034.4:c.1441G>T, XM_011530034.3:c.1441G>T, XM_011530034.2:c.1441G>T, XM_011530034.1:c.1441G>T, NM_206953.3:c.1489G>T, NM_206953.2:c.1489G>T, NM_206953.1:c.1489G>T, NM_206955.3:c.1489G>T, NM_206955.2:c.1489G>T, NM_206955.1:c.1489G>T, NM_206956.3:c.1489G>T, NM_206956.2:c.1489G>T, NM_206956.1:c.1489G>T, NM_206954.3:c.1489G>T, NM_206954.2:c.1489G>T, NM_206954.1:c.1489G>T, NM_001291717.2:c.1441G>T, NM_001291717.1:c.1441G>T, NM_001291715.2:c.1489G>T, NM_001291715.1:c.1489G>T, NM_001291716.2:c.1489G>T, NM_001291716.1:c.1489G>T, NM_001291719.2:c.1441G>T, NM_001291719.1:c.1441G>T, NM_001318127.2:c.1441G>T, NM_001318127.1:c.1441G>T, NM_001318126.2:c.1441G>T, NM_001318126.1:c.1441G>T, NP_006106.1:p.Asp497Tyr, XP_011528336.1:p.Asp481Tyr, NP_996836.1:p.Asp497Tyr, NP_996838.1:p.Asp497Tyr, NP_996839.1:p.Asp497Tyr, NP_996837.1:p.Asp497Tyr, NP_001278646.1:p.Asp481Tyr, NP_001278644.1:p.Asp497Tyr, NP_001278645.1:p.Asp497Tyr, NP_001278648.1:p.Asp481Tyr, NP_001305056.1:p.Asp481Tyr, NP_001305055.1:p.Asp481Tyr

                      11.

                      rs1474803255 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        22:22550184 (GRCh38)
                        22:22892606 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:22550183:G:A,NC_000022.11:22550183:G:T
                        Gene:
                        PRAME (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000022.11:g.22550184G>A, NC_000022.11:g.22550184G>T, NC_000022.10:g.22892606G>A, NC_000022.10:g.22892606G>T, NG_000002.1:g.516594G>A, NG_000002.1:g.516594G>T, NT_187629.1:g.185841G>A, NT_187629.1:g.185841G>T, NM_006115.5:c.495C>T, NM_006115.5:c.495C>A, NM_006115.4:c.495C>T, NM_006115.4:c.495C>A, NM_006115.3:c.495C>T, NM_006115.3:c.495C>A, XM_011530034.4:c.447C>T, XM_011530034.4:c.447C>A, XM_011530034.3:c.447C>T, XM_011530034.3:c.447C>A, XM_011530034.2:c.447C>T, XM_011530034.2:c.447C>A, XM_011530034.1:c.447C>T, XM_011530034.1:c.447C>A, NM_206956.3:c.495C>T, NM_206956.3:c.495C>A, NM_206956.2:c.495C>T, NM_206956.2:c.495C>A, NM_206956.1:c.495C>T, NM_206956.1:c.495C>A, NM_206953.3:c.495C>T, NM_206953.3:c.495C>A, NM_206953.2:c.495C>T, NM_206953.2:c.495C>A, NM_206953.1:c.495C>T, NM_206953.1:c.495C>A, NM_206955.3:c.495C>T, NM_206955.3:c.495C>A, NM_206955.2:c.495C>T, NM_206955.2:c.495C>A, NM_206955.1:c.495C>T, NM_206955.1:c.495C>A, NM_206954.3:c.495C>T, NM_206954.3:c.495C>A, NM_206954.2:c.495C>T, NM_206954.2:c.495C>A, NM_206954.1:c.495C>T, NM_206954.1:c.495C>A, NM_001318127.2:c.447C>T, NM_001318127.2:c.447C>A, NM_001318127.1:c.447C>T, NM_001318127.1:c.447C>A, NM_001291717.2:c.447C>T, NM_001291717.2:c.447C>A, NM_001291717.1:c.447C>T, NM_001291717.1:c.447C>A, NM_001291715.2:c.495C>T, NM_001291715.2:c.495C>A, NM_001291715.1:c.495C>T, NM_001291715.1:c.495C>A, NM_001291716.2:c.495C>T, NM_001291716.2:c.495C>A, NM_001291716.1:c.495C>T, NM_001291716.1:c.495C>A, NM_001318126.2:c.447C>T, NM_001318126.2:c.447C>A, NM_001318126.1:c.447C>T, NM_001318126.1:c.447C>A, NM_001291719.2:c.447C>T, NM_001291719.2:c.447C>A, NM_001291719.1:c.447C>T, NM_001291719.1:c.447C>A, NP_006106.1:p.Ser165Arg, XP_011528336.1:p.Ser149Arg, NP_996839.1:p.Ser165Arg, NP_996836.1:p.Ser165Arg, NP_996838.1:p.Ser165Arg, NP_996837.1:p.Ser165Arg, NP_001305056.1:p.Ser149Arg, NP_001278646.1:p.Ser149Arg, NP_001278644.1:p.Ser165Arg, NP_001278645.1:p.Ser165Arg, NP_001305055.1:p.Ser149Arg, NP_001278648.1:p.Ser149Arg

                        12.

                        rs1474045123 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:22548264 (GRCh38)
                          22:22890686 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:22548263:G:A
                          Gene:
                          PRAME (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.22548264G>A, NC_000022.10:g.22890686G>A, NG_000002.1:g.514674G>A, NT_187629.1:g.183921G>A, NM_006115.5:c.1333C>T, NM_006115.4:c.1333C>T, NM_006115.3:c.1333C>T, XM_011530034.4:c.1285C>T, XM_011530034.3:c.1285C>T, XM_011530034.2:c.1285C>T, XM_011530034.1:c.1285C>T, NM_206953.3:c.1333C>T, NM_206953.2:c.1333C>T, NM_206953.1:c.1333C>T, NM_206955.3:c.1333C>T, NM_206955.2:c.1333C>T, NM_206955.1:c.1333C>T, NM_206956.3:c.1333C>T, NM_206956.2:c.1333C>T, NM_206956.1:c.1333C>T, NM_206954.3:c.1333C>T, NM_206954.2:c.1333C>T, NM_206954.1:c.1333C>T, NM_001291717.2:c.1285C>T, NM_001291717.1:c.1285C>T, NM_001291715.2:c.1333C>T, NM_001291715.1:c.1333C>T, NM_001291716.2:c.1333C>T, NM_001291716.1:c.1333C>T, NM_001291719.2:c.1285C>T, NM_001291719.1:c.1285C>T, NM_001318127.2:c.1285C>T, NM_001318127.1:c.1285C>T, NM_001318126.2:c.1285C>T, NM_001318126.1:c.1285C>T

                          13.

                          rs1472647130 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            22:22549792 (GRCh38)
                            22:22892214 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:22549791:T:A
                            Gene:
                            PRAME (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000022.11:g.22549792T>A, NC_000022.10:g.22892214T>A, NG_000002.1:g.516202T>A, NT_187629.1:g.185449T>A, NM_006115.5:c.887A>T, NM_006115.4:c.887A>T, NM_006115.3:c.887A>T, XM_011530034.4:c.839A>T, XM_011530034.3:c.839A>T, XM_011530034.2:c.839A>T, XM_011530034.1:c.839A>T, NM_206954.3:c.887A>T, NM_206954.2:c.887A>T, NM_206954.1:c.887A>T, NM_206955.3:c.887A>T, NM_206955.2:c.887A>T, NM_206955.1:c.887A>T, NM_206953.3:c.887A>T, NM_206953.2:c.887A>T, NM_206953.1:c.887A>T, NM_206956.3:c.887A>T, NM_206956.2:c.887A>T, NM_206956.1:c.887A>T, NM_001318127.2:c.839A>T, NM_001318127.1:c.839A>T, NM_001291717.2:c.839A>T, NM_001291717.1:c.839A>T, NM_001291715.2:c.887A>T, NM_001291715.1:c.887A>T, NM_001291716.2:c.887A>T, NM_001291716.1:c.887A>T, NM_001318126.2:c.839A>T, NM_001318126.1:c.839A>T, NM_001291719.2:c.839A>T, NM_001291719.1:c.839A>T, NP_006106.1:p.Gln296Leu, XP_011528336.1:p.Gln280Leu, NP_996837.1:p.Gln296Leu, NP_996838.1:p.Gln296Leu, NP_996836.1:p.Gln296Leu, NP_996839.1:p.Gln296Leu, NP_001305056.1:p.Gln280Leu, NP_001278646.1:p.Gln280Leu, NP_001278644.1:p.Gln296Leu, NP_001278645.1:p.Gln296Leu, NP_001305055.1:p.Gln280Leu, NP_001278648.1:p.Gln280Leu

                            14.

                            rs1468490814 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              22:22548404 (GRCh38)
                              22:22890826 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:22548403:A:C
                              Gene:
                              PRAME (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.22548404A>C, NC_000022.10:g.22890826A>C, NG_000002.1:g.514814A>C, NT_187629.1:g.184061A>C, NM_006115.5:c.1193T>G, NM_006115.4:c.1193T>G, NM_006115.3:c.1193T>G, XM_011530034.4:c.1145T>G, XM_011530034.3:c.1145T>G, XM_011530034.2:c.1145T>G, XM_011530034.1:c.1145T>G, NM_206953.3:c.1193T>G, NM_206953.2:c.1193T>G, NM_206953.1:c.1193T>G, NM_206955.3:c.1193T>G, NM_206955.2:c.1193T>G, NM_206955.1:c.1193T>G, NM_206956.3:c.1193T>G, NM_206956.2:c.1193T>G, NM_206956.1:c.1193T>G, NM_206954.3:c.1193T>G, NM_206954.2:c.1193T>G, NM_206954.1:c.1193T>G, NM_001291717.2:c.1145T>G, NM_001291717.1:c.1145T>G, NM_001291715.2:c.1193T>G, NM_001291715.1:c.1193T>G, NM_001291716.2:c.1193T>G, NM_001291716.1:c.1193T>G, NM_001291719.2:c.1145T>G, NM_001291719.1:c.1145T>G, NM_001318127.2:c.1145T>G, NM_001318127.1:c.1145T>G, NM_001318126.2:c.1145T>G, NM_001318126.1:c.1145T>G, NP_006106.1:p.Leu398Arg, XP_011528336.1:p.Leu382Arg, NP_996836.1:p.Leu398Arg, NP_996838.1:p.Leu398Arg, NP_996839.1:p.Leu398Arg, NP_996837.1:p.Leu398Arg, NP_001278646.1:p.Leu382Arg, NP_001278644.1:p.Leu398Arg, NP_001278645.1:p.Leu398Arg, NP_001278648.1:p.Leu382Arg, NP_001305056.1:p.Leu382Arg, NP_001305055.1:p.Leu382Arg

                              15.

                              rs1468360752 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:22550801 (GRCh38)
                                22:22893223 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:22550800:G:A
                                Gene:
                                PRAME (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000022.11:g.22550801G>A, NC_000022.10:g.22893223G>A, NG_000002.1:g.517211G>A, NT_187629.1:g.186458G>A, NM_006115.5:c.310C>T, NM_006115.4:c.310C>T, NM_006115.3:c.310C>T, XM_011530034.4:c.262C>T, XM_011530034.3:c.262C>T, XM_011530034.2:c.262C>T, XM_011530034.1:c.262C>T, NM_206956.3:c.310C>T, NM_206956.2:c.310C>T, NM_206956.1:c.310C>T, NM_206953.3:c.310C>T, NM_206953.2:c.310C>T, NM_206953.1:c.310C>T, NM_206955.3:c.310C>T, NM_206955.2:c.310C>T, NM_206955.1:c.310C>T, NM_206954.3:c.310C>T, NM_206954.2:c.310C>T, NM_206954.1:c.310C>T, NM_001318127.2:c.262C>T, NM_001318127.1:c.262C>T, NM_001291717.2:c.262C>T, NM_001291717.1:c.262C>T, NM_001291715.2:c.310C>T, NM_001291715.1:c.310C>T, NM_001291716.2:c.310C>T, NM_001291716.1:c.310C>T, NM_001318126.2:c.262C>T, NM_001318126.1:c.262C>T, NM_001291719.2:c.262C>T, NM_001291719.1:c.262C>T, NP_006106.1:p.Leu104Phe, XP_011528336.1:p.Leu88Phe, NP_996839.1:p.Leu104Phe, NP_996836.1:p.Leu104Phe, NP_996838.1:p.Leu104Phe, NP_996837.1:p.Leu104Phe, NP_001305056.1:p.Leu88Phe, NP_001278646.1:p.Leu88Phe, NP_001278644.1:p.Leu104Phe, NP_001278645.1:p.Leu104Phe, NP_001305055.1:p.Leu88Phe, NP_001278648.1:p.Leu88Phe

                                16.

                                rs1468053767 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:22548099 (GRCh38)
                                  22:22890521 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:22548098:G:A
                                  Gene:
                                  PRAME (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000022.11:g.22548099G>A, NC_000022.10:g.22890521G>A, NG_000002.1:g.514509G>A, NT_187629.1:g.183756G>A, NM_006115.5:c.1498C>T, NM_006115.4:c.1498C>T, NM_006115.3:c.1498C>T, XM_011530034.4:c.1450C>T, XM_011530034.3:c.1450C>T, XM_011530034.2:c.1450C>T, XM_011530034.1:c.1450C>T, NM_206953.3:c.1498C>T, NM_206953.2:c.1498C>T, NM_206953.1:c.1498C>T, NM_206955.3:c.1498C>T, NM_206955.2:c.1498C>T, NM_206955.1:c.1498C>T, NM_206956.3:c.1498C>T, NM_206956.2:c.1498C>T, NM_206956.1:c.1498C>T, NM_206954.3:c.1498C>T, NM_206954.2:c.1498C>T, NM_206954.1:c.1498C>T, NM_001291717.2:c.1450C>T, NM_001291717.1:c.1450C>T, NM_001291715.2:c.1498C>T, NM_001291715.1:c.1498C>T, NM_001291716.2:c.1498C>T, NM_001291716.1:c.1498C>T, NM_001291719.2:c.1450C>T, NM_001291719.1:c.1450C>T, NM_001318127.2:c.1450C>T, NM_001318127.1:c.1450C>T, NM_001318126.2:c.1450C>T, NM_001318126.1:c.1450C>T, NP_006106.1:p.Pro500Ser, XP_011528336.1:p.Pro484Ser, NP_996836.1:p.Pro500Ser, NP_996838.1:p.Pro500Ser, NP_996839.1:p.Pro500Ser, NP_996837.1:p.Pro500Ser, NP_001278646.1:p.Pro484Ser, NP_001278644.1:p.Pro500Ser, NP_001278645.1:p.Pro500Ser, NP_001278648.1:p.Pro484Ser, NP_001305056.1:p.Pro484Ser, NP_001305055.1:p.Pro484Ser

                                  17.

                                  rs1466812181 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:22548228 (GRCh38)
                                    22:22890650 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:22548227:G:A
                                    Gene:
                                    PRAME (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000022.11:g.22548228G>A, NC_000022.10:g.22890650G>A, NG_000002.1:g.514638G>A, NT_187629.1:g.183885G>A, NM_006115.5:c.1369C>T, NM_006115.4:c.1369C>T, NM_006115.3:c.1369C>T, XM_011530034.4:c.1321C>T, XM_011530034.3:c.1321C>T, XM_011530034.2:c.1321C>T, XM_011530034.1:c.1321C>T, NM_206953.3:c.1369C>T, NM_206953.2:c.1369C>T, NM_206953.1:c.1369C>T, NM_206955.3:c.1369C>T, NM_206955.2:c.1369C>T, NM_206955.1:c.1369C>T, NM_206956.3:c.1369C>T, NM_206956.2:c.1369C>T, NM_206956.1:c.1369C>T, NM_206954.3:c.1369C>T, NM_206954.2:c.1369C>T, NM_206954.1:c.1369C>T, NM_001291717.2:c.1321C>T, NM_001291717.1:c.1321C>T, NM_001291715.2:c.1369C>T, NM_001291715.1:c.1369C>T, NM_001291716.2:c.1369C>T, NM_001291716.1:c.1369C>T, NM_001291719.2:c.1321C>T, NM_001291719.1:c.1321C>T, NM_001318127.2:c.1321C>T, NM_001318127.1:c.1321C>T, NM_001318126.2:c.1321C>T, NM_001318126.1:c.1321C>T

                                    18.

                                    rs1466347508 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      22:22550282 (GRCh38)
                                      22:22892704 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:22550281:A:C,NC_000022.11:22550281:A:G
                                      Gene:
                                      PRAME (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.22550282A>C, NC_000022.11:g.22550282A>G, NC_000022.10:g.22892704A>C, NC_000022.10:g.22892704A>G, NG_000002.1:g.516692A>C, NG_000002.1:g.516692A>G, NT_187629.1:g.185939A>C, NT_187629.1:g.185939A>G, NM_006115.5:c.397T>G, NM_006115.5:c.397T>C, NM_006115.4:c.397T>G, NM_006115.4:c.397T>C, NM_006115.3:c.397T>G, NM_006115.3:c.397T>C, XM_011530034.4:c.349T>G, XM_011530034.4:c.349T>C, XM_011530034.3:c.349T>G, XM_011530034.3:c.349T>C, XM_011530034.2:c.349T>G, XM_011530034.2:c.349T>C, XM_011530034.1:c.349T>G, XM_011530034.1:c.349T>C, NM_206956.3:c.397T>G, NM_206956.3:c.397T>C, NM_206956.2:c.397T>G, NM_206956.2:c.397T>C, NM_206956.1:c.397T>G, NM_206956.1:c.397T>C, NM_206953.3:c.397T>G, NM_206953.3:c.397T>C, NM_206953.2:c.397T>G, NM_206953.2:c.397T>C, NM_206953.1:c.397T>G, NM_206953.1:c.397T>C, NM_206955.3:c.397T>G, NM_206955.3:c.397T>C, NM_206955.2:c.397T>G, NM_206955.2:c.397T>C, NM_206955.1:c.397T>G, NM_206955.1:c.397T>C, NM_206954.3:c.397T>G, NM_206954.3:c.397T>C, NM_206954.2:c.397T>G, NM_206954.2:c.397T>C, NM_206954.1:c.397T>G, NM_206954.1:c.397T>C, NM_001318127.2:c.349T>G, NM_001318127.2:c.349T>C, NM_001318127.1:c.349T>G, NM_001318127.1:c.349T>C, NM_001291717.2:c.349T>G, NM_001291717.2:c.349T>C, NM_001291717.1:c.349T>G, NM_001291717.1:c.349T>C, NM_001291715.2:c.397T>G, NM_001291715.2:c.397T>C, NM_001291715.1:c.397T>G, NM_001291715.1:c.397T>C, NM_001291716.2:c.397T>G, NM_001291716.2:c.397T>C, NM_001291716.1:c.397T>G, NM_001291716.1:c.397T>C, NM_001318126.2:c.349T>G, NM_001318126.2:c.349T>C, NM_001318126.1:c.349T>G, NM_001318126.1:c.349T>C, NM_001291719.2:c.349T>G, NM_001291719.2:c.349T>C, NM_001291719.1:c.349T>G, NM_001291719.1:c.349T>C, NP_006106.1:p.Trp133Gly, NP_006106.1:p.Trp133Arg, XP_011528336.1:p.Trp117Gly, XP_011528336.1:p.Trp117Arg, NP_996839.1:p.Trp133Gly, NP_996839.1:p.Trp133Arg, NP_996836.1:p.Trp133Gly, NP_996836.1:p.Trp133Arg, NP_996838.1:p.Trp133Gly, NP_996838.1:p.Trp133Arg, NP_996837.1:p.Trp133Gly, NP_996837.1:p.Trp133Arg, NP_001305056.1:p.Trp117Gly, NP_001305056.1:p.Trp117Arg, NP_001278646.1:p.Trp117Gly, NP_001278646.1:p.Trp117Arg, NP_001278644.1:p.Trp133Gly, NP_001278644.1:p.Trp133Arg, NP_001278645.1:p.Trp133Gly, NP_001278645.1:p.Trp133Arg, NP_001305055.1:p.Trp117Gly, NP_001305055.1:p.Trp117Arg, NP_001278648.1:p.Trp117Gly, NP_001278648.1:p.Trp117Arg

                                      19.

                                      rs1465739236 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        22:22550188 (GRCh38)
                                        22:22892610 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:22550187:A:C
                                        Gene:
                                        PRAME (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000022.11:g.22550188A>C, NC_000022.10:g.22892610A>C, NG_000002.1:g.516598A>C, NT_187629.1:g.185845A>C, NM_006115.5:c.491T>G, NM_006115.4:c.491T>G, NM_006115.3:c.491T>G, XM_011530034.4:c.443T>G, XM_011530034.3:c.443T>G, XM_011530034.2:c.443T>G, XM_011530034.1:c.443T>G, NM_206956.3:c.491T>G, NM_206956.2:c.491T>G, NM_206956.1:c.491T>G, NM_206953.3:c.491T>G, NM_206953.2:c.491T>G, NM_206953.1:c.491T>G, NM_206955.3:c.491T>G, NM_206955.2:c.491T>G, NM_206955.1:c.491T>G, NM_206954.3:c.491T>G, NM_206954.2:c.491T>G, NM_206954.1:c.491T>G, NM_001318127.2:c.443T>G, NM_001318127.1:c.443T>G, NM_001291717.2:c.443T>G, NM_001291717.1:c.443T>G, NM_001291715.2:c.491T>G, NM_001291715.1:c.491T>G, NM_001291716.2:c.491T>G, NM_001291716.1:c.491T>G, NM_001318126.2:c.443T>G, NM_001318126.1:c.443T>G, NM_001291719.2:c.443T>G, NM_001291719.1:c.443T>G, NP_006106.1:p.Leu164Trp, XP_011528336.1:p.Leu148Trp, NP_996839.1:p.Leu164Trp, NP_996836.1:p.Leu164Trp, NP_996838.1:p.Leu164Trp, NP_996837.1:p.Leu164Trp, NP_001305056.1:p.Leu148Trp, NP_001278646.1:p.Leu148Trp, NP_001278644.1:p.Leu164Trp, NP_001278645.1:p.Leu164Trp, NP_001305055.1:p.Leu148Trp, NP_001278648.1:p.Leu148Trp

                                        20.

                                        rs1463270719 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:22548354 (GRCh38)
                                          22:22890776 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:22548353:C:T
                                          Gene:
                                          PRAME (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by cluster
                                          HGVS:
                                          NC_000022.11:g.22548354C>T, NC_000022.10:g.22890776C>T, NG_000002.1:g.514764C>T, NT_187629.1:g.184011C>T, NM_006115.5:c.1243G>A, NM_006115.4:c.1243G>A, NM_006115.3:c.1243G>A, NM_206953.3:c.1243G>A, NM_206953.2:c.1243G>A, NM_206953.1:c.1243G>A, NM_206955.3:c.1243G>A, NM_206955.2:c.1243G>A, NM_206955.1:c.1243G>A, XM_011530034.4:c.1195G>A, XM_011530034.3:c.1195G>A, XM_011530034.2:c.1195G>A, XM_011530034.1:c.1195G>A, NM_206956.3:c.1243G>A, NM_206956.2:c.1243G>A, NM_206956.1:c.1243G>A, NM_206954.3:c.1243G>A, NM_206954.2:c.1243G>A, NM_206954.1:c.1243G>A, NM_001318127.2:c.1195G>A, NM_001318127.1:c.1195G>A, NM_001291717.2:c.1195G>A, NM_001291717.1:c.1195G>A, NM_001291715.2:c.1243G>A, NM_001291715.1:c.1243G>A, NM_001291716.2:c.1243G>A, NM_001291716.1:c.1243G>A, NM_001318126.2:c.1195G>A, NM_001318126.1:c.1195G>A, NM_001291719.2:c.1195G>A, NM_001291719.1:c.1195G>A, NP_006106.1:p.Gly415Arg, NP_996836.1:p.Gly415Arg, NP_996838.1:p.Gly415Arg, XP_011528336.1:p.Gly399Arg, NP_996839.1:p.Gly415Arg, NP_996837.1:p.Gly415Arg, NP_001305056.1:p.Gly399Arg, NP_001278646.1:p.Gly399Arg, NP_001278644.1:p.Gly415Arg, NP_001278645.1:p.Gly415Arg, NP_001305055.1:p.Gly399Arg, NP_001278648.1:p.Gly399Arg

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