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Items: 1 to 20 of 497

1.

rs1490309870 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:15003903 (GRCh38)
    3:15045410 (GRCh37)
    Canonical SPDI:
    NC_000003.12:15003902:G:A
    Gene:
    NR2C2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.15003903G>A, NC_000003.11:g.15045410G>A, NM_003298.5:c.-12G>A, NM_003298.4:c.-12G>A, NM_003298.3:c.-12G>A, XM_011534066.4:c.-12G>A, XM_011534066.3:c.-12G>A, XM_011534066.2:c.-12G>A, XM_011534066.1:c.-12G>A, XM_011534058.4:c.88G>A, XM_011534058.3:c.88G>A, XM_011534058.2:c.88G>A, XM_011534058.1:c.88G>A, XM_011534063.4:c.88G>A, XM_011534063.3:c.88G>A, XM_011534063.2:c.88G>A, XM_011534063.1:c.88G>A, XM_011534064.4:c.-12G>A, XM_011534064.3:c.-12G>A, XM_011534064.2:c.-12G>A, XM_011534064.1:c.-12G>A, XM_011534061.4:c.88G>A, XM_011534061.3:c.88G>A, XM_011534061.2:c.88G>A, XM_011534061.1:c.88G>A, XM_011534065.4:c.-12G>A, XM_011534065.3:c.-12G>A, XM_011534065.2:c.-12G>A, XM_011534065.1:c.-12G>A, XM_011534059.3:c.88G>A, XM_011534059.2:c.88G>A, XM_011534059.1:c.88G>A, NM_001291694.2:c.-12G>A, NM_001291694.1:c.-12G>A, XM_047448833.1:c.31G>A, XM_047448829.1:c.88G>A, XM_047448836.1:c.88G>A, XM_047448837.1:c.88G>A, XM_047448838.1:c.-12G>A, XM_047448835.1:c.-12G>A, XM_047448831.1:c.88G>A, XM_047448828.1:c.88G>A, XM_047448826.1:c.88G>A, XM_047448825.1:c.88G>A, XM_047448830.1:c.88G>A, XM_047448827.1:c.88G>A, XM_047448832.1:c.88G>A, XM_047448824.1:c.88G>A, XM_047448834.1:c.-12G>A, XP_011532360.1:p.Glu30Lys, XP_011532365.1:p.Glu30Lys, XP_011532363.1:p.Glu30Lys, XP_011532361.1:p.Glu30Lys, XP_047304789.1:p.Glu11Lys, XP_047304785.1:p.Glu30Lys, XP_047304792.1:p.Glu30Lys, XP_047304793.1:p.Glu30Lys, XP_047304787.1:p.Glu30Lys, XP_047304784.1:p.Glu30Lys, XP_047304782.1:p.Glu30Lys, XP_047304781.1:p.Glu30Lys, XP_047304786.1:p.Glu30Lys, XP_047304783.1:p.Glu30Lys, XP_047304788.1:p.Glu30Lys, XP_047304780.1:p.Glu30Lys

    2.

    rs1489442162 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:15013733 (GRCh38)
      3:15055240 (GRCh37)
      Canonical SPDI:
      NC_000003.12:15013732:A:G
      Gene:
      NR2C2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.15013733A>G, NC_000003.11:g.15055240A>G, NM_003298.5:c.274A>G, NM_003298.4:c.274A>G, NM_003298.3:c.274A>G, XM_011534066.4:c.274A>G, XM_011534066.3:c.274A>G, XM_011534066.2:c.274A>G, XM_011534066.1:c.274A>G, XM_011534058.4:c.373A>G, XM_011534058.3:c.373A>G, XM_011534058.2:c.373A>G, XM_011534058.1:c.373A>G, XM_011534063.4:c.316A>G, XM_011534063.3:c.316A>G, XM_011534063.2:c.316A>G, XM_011534063.1:c.316A>G, XM_011534064.4:c.274A>G, XM_011534064.3:c.274A>G, XM_011534064.2:c.274A>G, XM_011534064.1:c.274A>G, XM_011534061.4:c.373A>G, XM_011534061.3:c.373A>G, XM_011534061.2:c.373A>G, XM_011534061.1:c.373A>G, XM_011534065.4:c.274A>G, XM_011534065.3:c.274A>G, XM_011534065.2:c.274A>G, XM_011534065.1:c.274A>G, XM_011534059.3:c.373A>G, XM_011534059.2:c.373A>G, XM_011534059.1:c.373A>G, NM_001291694.2:c.217A>G, NM_001291694.1:c.217A>G, XM_047448833.1:c.316A>G, XM_047448829.1:c.373A>G, XM_047448836.1:c.316A>G, XM_047448837.1:c.316A>G, XM_047448838.1:c.274A>G, XM_047448835.1:c.217A>G, XM_047448831.1:c.316A>G, XM_047448828.1:c.373A>G, XM_047448826.1:c.373A>G, XM_047448825.1:c.373A>G, XM_047448830.1:c.316A>G, XM_047448827.1:c.373A>G, XM_047448832.1:c.316A>G, XM_047448824.1:c.373A>G, XM_047448834.1:c.274A>G, NP_003289.2:p.Ser92Gly, XP_011532368.1:p.Ser92Gly, XP_011532360.1:p.Ser125Gly, XP_011532365.1:p.Ser106Gly, XP_011532366.1:p.Ser92Gly, XP_011532363.1:p.Ser125Gly, XP_011532367.1:p.Ser92Gly, XP_011532361.1:p.Ser125Gly, NP_001278623.1:p.Ser73Gly, XP_047304789.1:p.Ser106Gly, XP_047304785.1:p.Ser125Gly, XP_047304792.1:p.Ser106Gly, XP_047304793.1:p.Ser106Gly, XP_047304794.1:p.Ser92Gly, XP_047304791.1:p.Ser73Gly, XP_047304787.1:p.Ser106Gly, XP_047304784.1:p.Ser125Gly, XP_047304782.1:p.Ser125Gly, XP_047304781.1:p.Ser125Gly, XP_047304786.1:p.Ser106Gly, XP_047304783.1:p.Ser125Gly, XP_047304788.1:p.Ser106Gly, XP_047304780.1:p.Ser125Gly, XP_047304790.1:p.Ser92Gly

      3.

      rs1486815827 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        3:15038099 (GRCh38)
        3:15079606 (GRCh37)
        Canonical SPDI:
        NC_000003.12:15038098:A:G
        Gene:
        NR2C2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.15038099A>G, NC_000003.11:g.15079606A>G, NM_003298.5:c.1529A>G, NM_003298.4:c.1529A>G, NM_003298.3:c.1529A>G, XM_011534066.4:c.1529A>G, XM_011534066.3:c.1529A>G, XM_011534066.2:c.1529A>G, XM_011534066.1:c.1529A>G, XM_011534058.4:c.1628A>G, XM_011534058.3:c.1628A>G, XM_011534058.2:c.1628A>G, XM_011534058.1:c.1628A>G, XM_011534063.4:c.1571A>G, XM_011534063.3:c.1571A>G, XM_011534063.2:c.1571A>G, XM_011534063.1:c.1571A>G, XM_011534064.4:c.1529A>G, XM_011534064.3:c.1529A>G, XM_011534064.2:c.1529A>G, XM_011534064.1:c.1529A>G, XM_011534061.4:c.1628A>G, XM_011534061.3:c.1628A>G, XM_011534061.2:c.1628A>G, XM_011534061.1:c.1628A>G, XM_011534065.4:c.1529A>G, XM_011534065.3:c.1529A>G, XM_011534065.2:c.1529A>G, XM_011534065.1:c.1529A>G, XM_011534059.3:c.1628A>G, XM_011534059.2:c.1628A>G, XM_011534059.1:c.1628A>G, NM_001291694.2:c.1472A>G, NM_001291694.1:c.1472A>G, XM_024453739.2:c.935A>G, XM_024453739.1:c.935A>G, XM_047448833.1:c.1571A>G, XM_047448829.1:c.1628A>G, XM_047448836.1:c.1571A>G, XM_047448837.1:c.1571A>G, XM_047448838.1:c.1529A>G, XM_047448835.1:c.1472A>G, XM_047448831.1:c.1571A>G, XM_047448828.1:c.1628A>G, XM_047448826.1:c.1628A>G, XM_047448825.1:c.1628A>G, XM_047448830.1:c.1571A>G, XM_047448827.1:c.1628A>G, XM_047448832.1:c.1571A>G, XM_047448824.1:c.1628A>G, XM_047448834.1:c.1529A>G, NP_003289.2:p.Glu510Gly, XP_011532368.1:p.Glu510Gly, XP_011532360.1:p.Glu543Gly, XP_011532365.1:p.Glu524Gly, XP_011532366.1:p.Glu510Gly, XP_011532363.1:p.Glu543Gly, XP_011532367.1:p.Glu510Gly, XP_011532361.1:p.Glu543Gly, NP_001278623.1:p.Glu491Gly, XP_024309507.1:p.Glu312Gly, XP_047304789.1:p.Glu524Gly, XP_047304785.1:p.Glu543Gly, XP_047304792.1:p.Glu524Gly, XP_047304793.1:p.Glu524Gly, XP_047304794.1:p.Glu510Gly, XP_047304791.1:p.Glu491Gly, XP_047304787.1:p.Glu524Gly, XP_047304784.1:p.Glu543Gly, XP_047304782.1:p.Glu543Gly, XP_047304781.1:p.Glu543Gly, XP_047304786.1:p.Glu524Gly, XP_047304783.1:p.Glu543Gly, XP_047304788.1:p.Glu524Gly, XP_047304780.1:p.Glu543Gly, XP_047304790.1:p.Glu510Gly

        4.

        rs1483545543 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:15030406 (GRCh38)
          3:15071913 (GRCh37)
          Canonical SPDI:
          NC_000003.12:15030405:T:C
          Gene:
          NR2C2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000011/3 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          NC_000003.12:g.15030406T>C, NC_000003.11:g.15071913T>C, NM_003298.5:c.1121T>C, NM_003298.4:c.1121T>C, NM_003298.3:c.1121T>C, XM_011534066.4:c.1121T>C, XM_011534066.3:c.1121T>C, XM_011534066.2:c.1121T>C, XM_011534066.1:c.1121T>C, XM_011534058.4:c.1220T>C, XM_011534058.3:c.1220T>C, XM_011534058.2:c.1220T>C, XM_011534058.1:c.1220T>C, XM_011534063.4:c.1163T>C, XM_011534063.3:c.1163T>C, XM_011534063.2:c.1163T>C, XM_011534063.1:c.1163T>C, XM_011534064.4:c.1121T>C, XM_011534064.3:c.1121T>C, XM_011534064.2:c.1121T>C, XM_011534064.1:c.1121T>C, XM_011534061.4:c.1220T>C, XM_011534061.3:c.1220T>C, XM_011534061.2:c.1220T>C, XM_011534061.1:c.1220T>C, XM_011534065.4:c.1121T>C, XM_011534065.3:c.1121T>C, XM_011534065.2:c.1121T>C, XM_011534065.1:c.1121T>C, XM_011534059.3:c.1220T>C, XM_011534059.2:c.1220T>C, XM_011534059.1:c.1220T>C, NM_001291694.2:c.1064T>C, NM_001291694.1:c.1064T>C, XM_024453739.2:c.527T>C, XM_024453739.1:c.527T>C, XM_047448833.1:c.1163T>C, XM_047448829.1:c.1220T>C, XM_047448836.1:c.1163T>C, XM_047448837.1:c.1163T>C, XM_047448838.1:c.1121T>C, XM_047448835.1:c.1064T>C, XM_047448831.1:c.1163T>C, XM_047448828.1:c.1220T>C, XM_047448826.1:c.1220T>C, XM_047448825.1:c.1220T>C, XM_047448830.1:c.1163T>C, XM_047448827.1:c.1220T>C, XM_047448832.1:c.1163T>C, XM_047448824.1:c.1220T>C, XM_047448834.1:c.1121T>C, NP_003289.2:p.Ile374Thr, XP_011532368.1:p.Ile374Thr, XP_011532360.1:p.Ile407Thr, XP_011532365.1:p.Ile388Thr, XP_011532366.1:p.Ile374Thr, XP_011532363.1:p.Ile407Thr, XP_011532367.1:p.Ile374Thr, XP_011532361.1:p.Ile407Thr, NP_001278623.1:p.Ile355Thr, XP_024309507.1:p.Ile176Thr, XP_047304789.1:p.Ile388Thr, XP_047304785.1:p.Ile407Thr, XP_047304792.1:p.Ile388Thr, XP_047304793.1:p.Ile388Thr, XP_047304794.1:p.Ile374Thr, XP_047304791.1:p.Ile355Thr, XP_047304787.1:p.Ile388Thr, XP_047304784.1:p.Ile407Thr, XP_047304782.1:p.Ile407Thr, XP_047304781.1:p.Ile407Thr, XP_047304786.1:p.Ile388Thr, XP_047304783.1:p.Ile407Thr, XP_047304788.1:p.Ile388Thr, XP_047304780.1:p.Ile407Thr, XP_047304790.1:p.Ile374Thr

          5.

          rs1483405793 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:15028677 (GRCh38)
            3:15070184 (GRCh37)
            Canonical SPDI:
            NC_000003.12:15028676:C:T
            Gene:
            NR2C2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.15028677C>T, NC_000003.11:g.15070184C>T, NM_003298.5:c.947C>T, NM_003298.4:c.947C>T, NM_003298.3:c.947C>T, XM_011534066.4:c.947C>T, XM_011534066.3:c.947C>T, XM_011534066.2:c.947C>T, XM_011534066.1:c.947C>T, XM_011534058.4:c.1046C>T, XM_011534058.3:c.1046C>T, XM_011534058.2:c.1046C>T, XM_011534058.1:c.1046C>T, XM_011534063.4:c.989C>T, XM_011534063.3:c.989C>T, XM_011534063.2:c.989C>T, XM_011534063.1:c.989C>T, XM_011534064.4:c.947C>T, XM_011534064.3:c.947C>T, XM_011534064.2:c.947C>T, XM_011534064.1:c.947C>T, XM_011534061.4:c.1046C>T, XM_011534061.3:c.1046C>T, XM_011534061.2:c.1046C>T, XM_011534061.1:c.1046C>T, XM_011534065.4:c.947C>T, XM_011534065.3:c.947C>T, XM_011534065.2:c.947C>T, XM_011534065.1:c.947C>T, XM_011534059.3:c.1046C>T, XM_011534059.2:c.1046C>T, XM_011534059.1:c.1046C>T, NM_001291694.2:c.890C>T, NM_001291694.1:c.890C>T, XM_024453739.2:c.353C>T, XM_024453739.1:c.353C>T, XM_047448833.1:c.989C>T, XM_047448829.1:c.1046C>T, XM_047448836.1:c.989C>T, XM_047448837.1:c.989C>T, XM_047448838.1:c.947C>T, XM_047448835.1:c.890C>T, XM_047448831.1:c.989C>T, XM_047448828.1:c.1046C>T, XM_047448826.1:c.1046C>T, XM_047448825.1:c.1046C>T, XM_047448830.1:c.989C>T, XM_047448827.1:c.1046C>T, XM_047448832.1:c.989C>T, XM_047448824.1:c.1046C>T, XM_047448834.1:c.947C>T, NP_003289.2:p.Ser316Leu, XP_011532368.1:p.Ser316Leu, XP_011532360.1:p.Ser349Leu, XP_011532365.1:p.Ser330Leu, XP_011532366.1:p.Ser316Leu, XP_011532363.1:p.Ser349Leu, XP_011532367.1:p.Ser316Leu, XP_011532361.1:p.Ser349Leu, NP_001278623.1:p.Ser297Leu, XP_024309507.1:p.Ser118Leu, XP_047304789.1:p.Ser330Leu, XP_047304785.1:p.Ser349Leu, XP_047304792.1:p.Ser330Leu, XP_047304793.1:p.Ser330Leu, XP_047304794.1:p.Ser316Leu, XP_047304791.1:p.Ser297Leu, XP_047304787.1:p.Ser330Leu, XP_047304784.1:p.Ser349Leu, XP_047304782.1:p.Ser349Leu, XP_047304781.1:p.Ser349Leu, XP_047304786.1:p.Ser330Leu, XP_047304783.1:p.Ser349Leu, XP_047304788.1:p.Ser330Leu, XP_047304780.1:p.Ser349Leu, XP_047304790.1:p.Ser316Leu

            6.

            rs1480191835 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              3:15016173 (GRCh38)
              3:15057680 (GRCh37)
              Canonical SPDI:
              NC_000003.12:15016172:G:C
              Gene:
              NR2C2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000003.12:g.15016173G>C, NC_000003.11:g.15057680G>C, NM_003298.5:c.352G>C, NM_003298.4:c.352G>C, NM_003298.3:c.352G>C, XM_011534066.4:c.352G>C, XM_011534066.3:c.352G>C, XM_011534066.2:c.352G>C, XM_011534066.1:c.352G>C, XM_011534058.4:c.451G>C, XM_011534058.3:c.451G>C, XM_011534058.2:c.451G>C, XM_011534058.1:c.451G>C, XM_011534063.4:c.394G>C, XM_011534063.3:c.394G>C, XM_011534063.2:c.394G>C, XM_011534063.1:c.394G>C, XM_011534064.4:c.352G>C, XM_011534064.3:c.352G>C, XM_011534064.2:c.352G>C, XM_011534064.1:c.352G>C, XM_011534061.4:c.451G>C, XM_011534061.3:c.451G>C, XM_011534061.2:c.451G>C, XM_011534061.1:c.451G>C, XM_011534065.4:c.352G>C, XM_011534065.3:c.352G>C, XM_011534065.2:c.352G>C, XM_011534065.1:c.352G>C, XM_011534059.3:c.451G>C, XM_011534059.2:c.451G>C, XM_011534059.1:c.451G>C, NM_001291694.2:c.295G>C, NM_001291694.1:c.295G>C, XM_024453739.2:c.-243G>C, XM_024453739.1:c.-243G>C, XM_047448833.1:c.394G>C, XM_047448829.1:c.451G>C, XM_047448836.1:c.394G>C, XM_047448837.1:c.394G>C, XM_047448838.1:c.352G>C, XM_047448835.1:c.295G>C, XM_047448831.1:c.394G>C, XM_047448828.1:c.451G>C, XM_047448826.1:c.451G>C, XM_047448825.1:c.451G>C, XM_047448830.1:c.394G>C, XM_047448827.1:c.451G>C, XM_047448832.1:c.394G>C, XM_047448824.1:c.451G>C, XM_047448834.1:c.352G>C, NP_003289.2:p.Val118Leu, XP_011532368.1:p.Val118Leu, XP_011532360.1:p.Val151Leu, XP_011532365.1:p.Val132Leu, XP_011532366.1:p.Val118Leu, XP_011532363.1:p.Val151Leu, XP_011532367.1:p.Val118Leu, XP_011532361.1:p.Val151Leu, NP_001278623.1:p.Val99Leu, XP_047304789.1:p.Val132Leu, XP_047304785.1:p.Val151Leu, XP_047304792.1:p.Val132Leu, XP_047304793.1:p.Val132Leu, XP_047304794.1:p.Val118Leu, XP_047304791.1:p.Val99Leu, XP_047304787.1:p.Val132Leu, XP_047304784.1:p.Val151Leu, XP_047304782.1:p.Val151Leu, XP_047304781.1:p.Val151Leu, XP_047304786.1:p.Val132Leu, XP_047304783.1:p.Val151Leu, XP_047304788.1:p.Val132Leu, XP_047304780.1:p.Val151Leu, XP_047304790.1:p.Val118Leu

              7.

              rs1477134624 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                3:15042878 (GRCh38)
                3:15084385 (GRCh37)
                Canonical SPDI:
                NC_000003.12:15042877:G:C
                Gene:
                NR2C2 (Varview), MRPS25 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000003.12:g.15042878G>C, NC_000003.11:g.15084385G>C, NM_003298.5:c.1718G>C, NM_003298.4:c.1718G>C, NM_003298.3:c.1718G>C, XM_011534066.4:c.1718G>C, XM_011534066.3:c.1718G>C, XM_011534066.2:c.1718G>C, XM_011534066.1:c.1718G>C, XM_011534058.4:c.1817G>C, XM_011534058.3:c.1817G>C, XM_011534058.2:c.1817G>C, XM_011534058.1:c.1817G>C, XM_011534063.4:c.1760G>C, XM_011534063.3:c.1760G>C, XM_011534063.2:c.1760G>C, XM_011534063.1:c.1760G>C, XM_011534064.4:c.1718G>C, XM_011534064.3:c.1718G>C, XM_011534064.2:c.1718G>C, XM_011534064.1:c.1718G>C, XM_011534061.4:c.1817G>C, XM_011534061.3:c.1817G>C, XM_011534061.2:c.1817G>C, XM_011534061.1:c.1817G>C, XM_011534065.4:c.1718G>C, XM_011534065.3:c.1718G>C, XM_011534065.2:c.1718G>C, XM_011534065.1:c.1718G>C, XM_011534059.3:c.1817G>C, XM_011534059.2:c.1817G>C, XM_011534059.1:c.1817G>C, NM_001291694.2:c.1661G>C, NM_001291694.1:c.1661G>C, XM_024453739.2:c.1124G>C, XM_024453739.1:c.1124G>C, NR_135246.2:n.3610C>G, NR_135246.1:n.3632C>G, NR_135247.2:n.3521C>G, NR_135247.1:n.3543C>G, XM_047448833.1:c.1760G>C, XM_047448829.1:c.*2552G>C, XM_047448836.1:c.*2552G>C, XM_047448837.1:c.*2552G>C, XM_047448838.1:c.*2552G>C, XM_047448835.1:c.*2552G>C, XM_047448831.1:c.1760G>C, XM_047448828.1:c.1817G>C, XM_047448826.1:c.1817G>C, XM_047448825.1:c.1817G>C, XM_047448830.1:c.1760G>C, XM_047448827.1:c.1817G>C, XM_047448832.1:c.1760G>C, XM_047448824.1:c.1817G>C, XM_047448834.1:c.1718G>C, NP_003289.2:p.Ser573Thr, XP_011532368.1:p.Ser573Thr, XP_011532360.1:p.Ser606Thr, XP_011532365.1:p.Ser587Thr, XP_011532366.1:p.Ser573Thr, XP_011532363.1:p.Ser606Thr, XP_011532367.1:p.Ser573Thr, XP_011532361.1:p.Ser606Thr, NP_001278623.1:p.Ser554Thr, XP_024309507.1:p.Ser375Thr, XP_047304789.1:p.Ser587Thr, XP_047304787.1:p.Ser587Thr, XP_047304784.1:p.Ser606Thr, XP_047304782.1:p.Ser606Thr, XP_047304781.1:p.Ser606Thr, XP_047304786.1:p.Ser587Thr, XP_047304783.1:p.Ser606Thr, XP_047304788.1:p.Ser587Thr, XP_047304780.1:p.Ser606Thr, XP_047304790.1:p.Ser573Thr

                8.

                rs1475409931 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:14962456 (GRCh38)
                  3:15003963 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:14962455:G:A
                  Gene:
                  NR2C2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1475271908 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:15038133 (GRCh38)
                    3:15079640 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:15038132:C:T
                    Gene:
                    NR2C2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000223/2 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.15038133C>T, NC_000003.11:g.15079640C>T, NM_003298.5:c.1563C>T, NM_003298.4:c.1563C>T, NM_003298.3:c.1563C>T, XM_011534066.4:c.1563C>T, XM_011534066.3:c.1563C>T, XM_011534066.2:c.1563C>T, XM_011534066.1:c.1563C>T, XM_011534058.4:c.1662C>T, XM_011534058.3:c.1662C>T, XM_011534058.2:c.1662C>T, XM_011534058.1:c.1662C>T, XM_011534063.4:c.1605C>T, XM_011534063.3:c.1605C>T, XM_011534063.2:c.1605C>T, XM_011534063.1:c.1605C>T, XM_011534064.4:c.1563C>T, XM_011534064.3:c.1563C>T, XM_011534064.2:c.1563C>T, XM_011534064.1:c.1563C>T, XM_011534061.4:c.1662C>T, XM_011534061.3:c.1662C>T, XM_011534061.2:c.1662C>T, XM_011534061.1:c.1662C>T, XM_011534065.4:c.1563C>T, XM_011534065.3:c.1563C>T, XM_011534065.2:c.1563C>T, XM_011534065.1:c.1563C>T, XM_011534059.3:c.1662C>T, XM_011534059.2:c.1662C>T, XM_011534059.1:c.1662C>T, NM_001291694.2:c.1506C>T, NM_001291694.1:c.1506C>T, XM_024453739.2:c.969C>T, XM_024453739.1:c.969C>T, XM_047448833.1:c.1605C>T, XM_047448829.1:c.1662C>T, XM_047448836.1:c.1605C>T, XM_047448837.1:c.1605C>T, XM_047448838.1:c.1563C>T, XM_047448835.1:c.1506C>T, XM_047448831.1:c.1605C>T, XM_047448828.1:c.1662C>T, XM_047448826.1:c.1662C>T, XM_047448825.1:c.1662C>T, XM_047448830.1:c.1605C>T, XM_047448827.1:c.1662C>T, XM_047448832.1:c.1605C>T, XM_047448824.1:c.1662C>T, XM_047448834.1:c.1563C>T

                    10.

                    rs1473738836 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:15016192 (GRCh38)
                      3:15057699 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:15016191:A:C
                      Gene:
                      NR2C2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      NC_000003.12:g.15016192A>C, NC_000003.11:g.15057699A>C, NM_003298.5:c.371A>C, NM_003298.4:c.371A>C, NM_003298.3:c.371A>C, XM_011534066.4:c.371A>C, XM_011534066.3:c.371A>C, XM_011534066.2:c.371A>C, XM_011534066.1:c.371A>C, XM_011534058.4:c.470A>C, XM_011534058.3:c.470A>C, XM_011534058.2:c.470A>C, XM_011534058.1:c.470A>C, XM_011534063.4:c.413A>C, XM_011534063.3:c.413A>C, XM_011534063.2:c.413A>C, XM_011534063.1:c.413A>C, XM_011534064.4:c.371A>C, XM_011534064.3:c.371A>C, XM_011534064.2:c.371A>C, XM_011534064.1:c.371A>C, XM_011534061.4:c.470A>C, XM_011534061.3:c.470A>C, XM_011534061.2:c.470A>C, XM_011534061.1:c.470A>C, XM_011534065.4:c.371A>C, XM_011534065.3:c.371A>C, XM_011534065.2:c.371A>C, XM_011534065.1:c.371A>C, XM_011534059.3:c.470A>C, XM_011534059.2:c.470A>C, XM_011534059.1:c.470A>C, NM_001291694.2:c.314A>C, NM_001291694.1:c.314A>C, XM_024453739.2:c.-224A>C, XM_024453739.1:c.-224A>C, XM_047448833.1:c.413A>C, XM_047448829.1:c.470A>C, XM_047448836.1:c.413A>C, XM_047448837.1:c.413A>C, XM_047448838.1:c.371A>C, XM_047448835.1:c.314A>C, XM_047448831.1:c.413A>C, XM_047448828.1:c.470A>C, XM_047448826.1:c.470A>C, XM_047448825.1:c.470A>C, XM_047448830.1:c.413A>C, XM_047448827.1:c.470A>C, XM_047448832.1:c.413A>C, XM_047448824.1:c.470A>C, XM_047448834.1:c.371A>C, NP_003289.2:p.Lys124Thr, XP_011532368.1:p.Lys124Thr, XP_011532360.1:p.Lys157Thr, XP_011532365.1:p.Lys138Thr, XP_011532366.1:p.Lys124Thr, XP_011532363.1:p.Lys157Thr, XP_011532367.1:p.Lys124Thr, XP_011532361.1:p.Lys157Thr, NP_001278623.1:p.Lys105Thr, XP_047304789.1:p.Lys138Thr, XP_047304785.1:p.Lys157Thr, XP_047304792.1:p.Lys138Thr, XP_047304793.1:p.Lys138Thr, XP_047304794.1:p.Lys124Thr, XP_047304791.1:p.Lys105Thr, XP_047304787.1:p.Lys138Thr, XP_047304784.1:p.Lys157Thr, XP_047304782.1:p.Lys157Thr, XP_047304781.1:p.Lys157Thr, XP_047304786.1:p.Lys138Thr, XP_047304783.1:p.Lys157Thr, XP_047304788.1:p.Lys138Thr, XP_047304780.1:p.Lys157Thr, XP_047304790.1:p.Lys124Thr

                      11.

                      rs1473217829 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        3:15016155 (GRCh38)
                        3:15057662 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:15016154:G:C,NC_000003.12:15016154:G:T
                        Gene:
                        NR2C2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,5_prime_UTR_variant
                        HGVS:
                        NC_000003.12:g.15016155G>C, NC_000003.12:g.15016155G>T, NC_000003.11:g.15057662G>C, NC_000003.11:g.15057662G>T, NM_003298.5:c.334G>C, NM_003298.5:c.334G>T, NM_003298.4:c.334G>C, NM_003298.4:c.334G>T, NM_003298.3:c.334G>C, NM_003298.3:c.334G>T, XM_011534066.4:c.334G>C, XM_011534066.4:c.334G>T, XM_011534066.3:c.334G>C, XM_011534066.3:c.334G>T, XM_011534066.2:c.334G>C, XM_011534066.2:c.334G>T, XM_011534066.1:c.334G>C, XM_011534066.1:c.334G>T, XM_011534058.4:c.433G>C, XM_011534058.4:c.433G>T, XM_011534058.3:c.433G>C, XM_011534058.3:c.433G>T, XM_011534058.2:c.433G>C, XM_011534058.2:c.433G>T, XM_011534058.1:c.433G>C, XM_011534058.1:c.433G>T, XM_011534063.4:c.376G>C, XM_011534063.4:c.376G>T, XM_011534063.3:c.376G>C, XM_011534063.3:c.376G>T, XM_011534063.2:c.376G>C, XM_011534063.2:c.376G>T, XM_011534063.1:c.376G>C, XM_011534063.1:c.376G>T, XM_011534064.4:c.334G>C, XM_011534064.4:c.334G>T, XM_011534064.3:c.334G>C, XM_011534064.3:c.334G>T, XM_011534064.2:c.334G>C, XM_011534064.2:c.334G>T, XM_011534064.1:c.334G>C, XM_011534064.1:c.334G>T, XM_011534061.4:c.433G>C, XM_011534061.4:c.433G>T, XM_011534061.3:c.433G>C, XM_011534061.3:c.433G>T, XM_011534061.2:c.433G>C, XM_011534061.2:c.433G>T, XM_011534061.1:c.433G>C, XM_011534061.1:c.433G>T, XM_011534065.4:c.334G>C, XM_011534065.4:c.334G>T, XM_011534065.3:c.334G>C, XM_011534065.3:c.334G>T, XM_011534065.2:c.334G>C, XM_011534065.2:c.334G>T, XM_011534065.1:c.334G>C, XM_011534065.1:c.334G>T, XM_011534059.3:c.433G>C, XM_011534059.3:c.433G>T, XM_011534059.2:c.433G>C, XM_011534059.2:c.433G>T, XM_011534059.1:c.433G>C, XM_011534059.1:c.433G>T, NM_001291694.2:c.277G>C, NM_001291694.2:c.277G>T, NM_001291694.1:c.277G>C, NM_001291694.1:c.277G>T, XM_024453739.2:c.-261G>C, XM_024453739.2:c.-261G>T, XM_024453739.1:c.-261G>C, XM_024453739.1:c.-261G>T, XM_047448833.1:c.376G>C, XM_047448833.1:c.376G>T, XM_047448829.1:c.433G>C, XM_047448829.1:c.433G>T, XM_047448836.1:c.376G>C, XM_047448836.1:c.376G>T, XM_047448837.1:c.376G>C, XM_047448837.1:c.376G>T, XM_047448838.1:c.334G>C, XM_047448838.1:c.334G>T, XM_047448835.1:c.277G>C, XM_047448835.1:c.277G>T, XM_047448831.1:c.376G>C, XM_047448831.1:c.376G>T, XM_047448828.1:c.433G>C, XM_047448828.1:c.433G>T, XM_047448826.1:c.433G>C, XM_047448826.1:c.433G>T, XM_047448825.1:c.433G>C, XM_047448825.1:c.433G>T, XM_047448830.1:c.376G>C, XM_047448830.1:c.376G>T, XM_047448827.1:c.433G>C, XM_047448827.1:c.433G>T, XM_047448832.1:c.376G>C, XM_047448832.1:c.376G>T, XM_047448824.1:c.433G>C, XM_047448824.1:c.433G>T, XM_047448834.1:c.334G>C, XM_047448834.1:c.334G>T, NP_003289.2:p.Val112Leu, NP_003289.2:p.Val112Phe, XP_011532368.1:p.Val112Leu, XP_011532368.1:p.Val112Phe, XP_011532360.1:p.Val145Leu, XP_011532360.1:p.Val145Phe, XP_011532365.1:p.Val126Leu, XP_011532365.1:p.Val126Phe, XP_011532366.1:p.Val112Leu, XP_011532366.1:p.Val112Phe, XP_011532363.1:p.Val145Leu, XP_011532363.1:p.Val145Phe, XP_011532367.1:p.Val112Leu, XP_011532367.1:p.Val112Phe, XP_011532361.1:p.Val145Leu, XP_011532361.1:p.Val145Phe, NP_001278623.1:p.Val93Leu, NP_001278623.1:p.Val93Phe, XP_047304789.1:p.Val126Leu, XP_047304789.1:p.Val126Phe, XP_047304785.1:p.Val145Leu, XP_047304785.1:p.Val145Phe, XP_047304792.1:p.Val126Leu, XP_047304792.1:p.Val126Phe, XP_047304793.1:p.Val126Leu, XP_047304793.1:p.Val126Phe, XP_047304794.1:p.Val112Leu, XP_047304794.1:p.Val112Phe, XP_047304791.1:p.Val93Leu, XP_047304791.1:p.Val93Phe, XP_047304787.1:p.Val126Leu, XP_047304787.1:p.Val126Phe, XP_047304784.1:p.Val145Leu, XP_047304784.1:p.Val145Phe, XP_047304782.1:p.Val145Leu, XP_047304782.1:p.Val145Phe, XP_047304781.1:p.Val145Leu, XP_047304781.1:p.Val145Phe, XP_047304786.1:p.Val126Leu, XP_047304786.1:p.Val126Phe, XP_047304783.1:p.Val145Leu, XP_047304783.1:p.Val145Phe, XP_047304788.1:p.Val126Leu, XP_047304788.1:p.Val126Phe, XP_047304780.1:p.Val145Leu, XP_047304780.1:p.Val145Phe, XP_047304790.1:p.Val112Leu, XP_047304790.1:p.Val112Phe

                        12.

                        rs1472992921 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          3:15028586 (GRCh38)
                          3:15070093 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:15028585:G:T
                          Gene:
                          NR2C2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000003.12:g.15028586G>T, NC_000003.11:g.15070093G>T, NM_003298.5:c.856G>T, NM_003298.4:c.856G>T, NM_003298.3:c.856G>T, XM_011534066.4:c.856G>T, XM_011534066.3:c.856G>T, XM_011534066.2:c.856G>T, XM_011534066.1:c.856G>T, XM_011534058.4:c.955G>T, XM_011534058.3:c.955G>T, XM_011534058.2:c.955G>T, XM_011534058.1:c.955G>T, XM_011534063.4:c.898G>T, XM_011534063.3:c.898G>T, XM_011534063.2:c.898G>T, XM_011534063.1:c.898G>T, XM_011534064.4:c.856G>T, XM_011534064.3:c.856G>T, XM_011534064.2:c.856G>T, XM_011534064.1:c.856G>T, XM_011534061.4:c.955G>T, XM_011534061.3:c.955G>T, XM_011534061.2:c.955G>T, XM_011534061.1:c.955G>T, XM_011534065.4:c.856G>T, XM_011534065.3:c.856G>T, XM_011534065.2:c.856G>T, XM_011534065.1:c.856G>T, XM_011534059.3:c.955G>T, XM_011534059.2:c.955G>T, XM_011534059.1:c.955G>T, NM_001291694.2:c.799G>T, NM_001291694.1:c.799G>T, XM_024453739.2:c.262G>T, XM_024453739.1:c.262G>T, XM_047448833.1:c.898G>T, XM_047448829.1:c.955G>T, XM_047448836.1:c.898G>T, XM_047448837.1:c.898G>T, XM_047448838.1:c.856G>T, XM_047448835.1:c.799G>T, XM_047448831.1:c.898G>T, XM_047448828.1:c.955G>T, XM_047448826.1:c.955G>T, XM_047448825.1:c.955G>T, XM_047448830.1:c.898G>T, XM_047448827.1:c.955G>T, XM_047448832.1:c.898G>T, XM_047448824.1:c.955G>T, XM_047448834.1:c.856G>T, NP_003289.2:p.Ala286Ser, XP_011532368.1:p.Ala286Ser, XP_011532360.1:p.Ala319Ser, XP_011532365.1:p.Ala300Ser, XP_011532366.1:p.Ala286Ser, XP_011532363.1:p.Ala319Ser, XP_011532367.1:p.Ala286Ser, XP_011532361.1:p.Ala319Ser, NP_001278623.1:p.Ala267Ser, XP_024309507.1:p.Ala88Ser, XP_047304789.1:p.Ala300Ser, XP_047304785.1:p.Ala319Ser, XP_047304792.1:p.Ala300Ser, XP_047304793.1:p.Ala300Ser, XP_047304794.1:p.Ala286Ser, XP_047304791.1:p.Ala267Ser, XP_047304787.1:p.Ala300Ser, XP_047304784.1:p.Ala319Ser, XP_047304782.1:p.Ala319Ser, XP_047304781.1:p.Ala319Ser, XP_047304786.1:p.Ala300Ser, XP_047304783.1:p.Ala319Ser, XP_047304788.1:p.Ala300Ser, XP_047304780.1:p.Ala319Ser, XP_047304790.1:p.Ala286Ser

                          13.

                          rs1471984612 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:15030275 (GRCh38)
                            3:15071782 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:15030274:G:A
                            Gene:
                            NR2C2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.15030275G>A, NC_000003.11:g.15071782G>A, NM_003298.5:c.990G>A, NM_003298.4:c.990G>A, NM_003298.3:c.990G>A, XM_011534066.4:c.990G>A, XM_011534066.3:c.990G>A, XM_011534066.2:c.990G>A, XM_011534066.1:c.990G>A, XM_011534058.4:c.1089G>A, XM_011534058.3:c.1089G>A, XM_011534058.2:c.1089G>A, XM_011534058.1:c.1089G>A, XM_011534063.4:c.1032G>A, XM_011534063.3:c.1032G>A, XM_011534063.2:c.1032G>A, XM_011534063.1:c.1032G>A, XM_011534064.4:c.990G>A, XM_011534064.3:c.990G>A, XM_011534064.2:c.990G>A, XM_011534064.1:c.990G>A, XM_011534061.4:c.1089G>A, XM_011534061.3:c.1089G>A, XM_011534061.2:c.1089G>A, XM_011534061.1:c.1089G>A, XM_011534065.4:c.990G>A, XM_011534065.3:c.990G>A, XM_011534065.2:c.990G>A, XM_011534065.1:c.990G>A, XM_011534059.3:c.1089G>A, XM_011534059.2:c.1089G>A, XM_011534059.1:c.1089G>A, NM_001291694.2:c.933G>A, NM_001291694.1:c.933G>A, XM_024453739.2:c.396G>A, XM_024453739.1:c.396G>A, XM_047448833.1:c.1032G>A, XM_047448829.1:c.1089G>A, XM_047448836.1:c.1032G>A, XM_047448837.1:c.1032G>A, XM_047448838.1:c.990G>A, XM_047448835.1:c.933G>A, XM_047448831.1:c.1032G>A, XM_047448828.1:c.1089G>A, XM_047448826.1:c.1089G>A, XM_047448825.1:c.1089G>A, XM_047448830.1:c.1032G>A, XM_047448827.1:c.1089G>A, XM_047448832.1:c.1032G>A, XM_047448824.1:c.1089G>A, XM_047448834.1:c.990G>A

                            14.

                            rs1471146127 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:15032483 (GRCh38)
                              3:15073990 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:15032482:A:G
                              Gene:
                              NR2C2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000003.12:g.15032483A>G, NC_000003.11:g.15073990A>G, NM_003298.5:c.1272A>G, NM_003298.4:c.1272A>G, NM_003298.3:c.1272A>G, XM_011534066.4:c.1272A>G, XM_011534066.3:c.1272A>G, XM_011534066.2:c.1272A>G, XM_011534066.1:c.1272A>G, XM_011534058.4:c.1371A>G, XM_011534058.3:c.1371A>G, XM_011534058.2:c.1371A>G, XM_011534058.1:c.1371A>G, XM_011534063.4:c.1314A>G, XM_011534063.3:c.1314A>G, XM_011534063.2:c.1314A>G, XM_011534063.1:c.1314A>G, XM_011534064.4:c.1272A>G, XM_011534064.3:c.1272A>G, XM_011534064.2:c.1272A>G, XM_011534064.1:c.1272A>G, XM_011534061.4:c.1371A>G, XM_011534061.3:c.1371A>G, XM_011534061.2:c.1371A>G, XM_011534061.1:c.1371A>G, XM_011534065.4:c.1272A>G, XM_011534065.3:c.1272A>G, XM_011534065.2:c.1272A>G, XM_011534065.1:c.1272A>G, XM_011534059.3:c.1371A>G, XM_011534059.2:c.1371A>G, XM_011534059.1:c.1371A>G, NM_001291694.2:c.1215A>G, NM_001291694.1:c.1215A>G, XM_024453739.2:c.678A>G, XM_024453739.1:c.678A>G, XM_047448833.1:c.1314A>G, XM_047448829.1:c.1371A>G, XM_047448836.1:c.1314A>G, XM_047448837.1:c.1314A>G, XM_047448838.1:c.1272A>G, XM_047448835.1:c.1215A>G, XM_047448831.1:c.1314A>G, XM_047448828.1:c.1371A>G, XM_047448826.1:c.1371A>G, XM_047448825.1:c.1371A>G, XM_047448830.1:c.1314A>G, XM_047448827.1:c.1371A>G, XM_047448832.1:c.1314A>G, XM_047448824.1:c.1371A>G, XM_047448834.1:c.1272A>G

                              15.

                              rs1465327605 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:15028611 (GRCh38)
                                3:15070118 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:15028610:G:A
                                Gene:
                                NR2C2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.15028611G>A, NC_000003.11:g.15070118G>A, NM_003298.5:c.881G>A, NM_003298.4:c.881G>A, NM_003298.3:c.881G>A, XM_011534066.4:c.881G>A, XM_011534066.3:c.881G>A, XM_011534066.2:c.881G>A, XM_011534066.1:c.881G>A, XM_011534058.4:c.980G>A, XM_011534058.3:c.980G>A, XM_011534058.2:c.980G>A, XM_011534058.1:c.980G>A, XM_011534063.4:c.923G>A, XM_011534063.3:c.923G>A, XM_011534063.2:c.923G>A, XM_011534063.1:c.923G>A, XM_011534064.4:c.881G>A, XM_011534064.3:c.881G>A, XM_011534064.2:c.881G>A, XM_011534064.1:c.881G>A, XM_011534061.4:c.980G>A, XM_011534061.3:c.980G>A, XM_011534061.2:c.980G>A, XM_011534061.1:c.980G>A, XM_011534065.4:c.881G>A, XM_011534065.3:c.881G>A, XM_011534065.2:c.881G>A, XM_011534065.1:c.881G>A, XM_011534059.3:c.980G>A, XM_011534059.2:c.980G>A, XM_011534059.1:c.980G>A, NM_001291694.2:c.824G>A, NM_001291694.1:c.824G>A, XM_024453739.2:c.287G>A, XM_024453739.1:c.287G>A, XM_047448833.1:c.923G>A, XM_047448829.1:c.980G>A, XM_047448836.1:c.923G>A, XM_047448837.1:c.923G>A, XM_047448838.1:c.881G>A, XM_047448835.1:c.824G>A, XM_047448831.1:c.923G>A, XM_047448828.1:c.980G>A, XM_047448826.1:c.980G>A, XM_047448825.1:c.980G>A, XM_047448830.1:c.923G>A, XM_047448827.1:c.980G>A, XM_047448832.1:c.923G>A, XM_047448824.1:c.980G>A, XM_047448834.1:c.881G>A, NP_003289.2:p.Gly294Asp, XP_011532368.1:p.Gly294Asp, XP_011532360.1:p.Gly327Asp, XP_011532365.1:p.Gly308Asp, XP_011532366.1:p.Gly294Asp, XP_011532363.1:p.Gly327Asp, XP_011532367.1:p.Gly294Asp, XP_011532361.1:p.Gly327Asp, NP_001278623.1:p.Gly275Asp, XP_024309507.1:p.Gly96Asp, XP_047304789.1:p.Gly308Asp, XP_047304785.1:p.Gly327Asp, XP_047304792.1:p.Gly308Asp, XP_047304793.1:p.Gly308Asp, XP_047304794.1:p.Gly294Asp, XP_047304791.1:p.Gly275Asp, XP_047304787.1:p.Gly308Asp, XP_047304784.1:p.Gly327Asp, XP_047304782.1:p.Gly327Asp, XP_047304781.1:p.Gly327Asp, XP_047304786.1:p.Gly308Asp, XP_047304783.1:p.Gly327Asp, XP_047304788.1:p.Gly308Asp, XP_047304780.1:p.Gly327Asp, XP_047304790.1:p.Gly294Asp

                                16.

                                rs1465311025 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  3:15038056 (GRCh38)
                                  3:15079563 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:15038055:G:T
                                  Gene:
                                  NR2C2 (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.15038056G>T, NC_000003.11:g.15079563G>T, NM_003298.5:c.1486G>T, NM_003298.4:c.1486G>T, NM_003298.3:c.1486G>T, XM_011534066.4:c.1486G>T, XM_011534066.3:c.1486G>T, XM_011534066.2:c.1486G>T, XM_011534066.1:c.1486G>T, XM_011534058.4:c.1585G>T, XM_011534058.3:c.1585G>T, XM_011534058.2:c.1585G>T, XM_011534058.1:c.1585G>T, XM_011534063.4:c.1528G>T, XM_011534063.3:c.1528G>T, XM_011534063.2:c.1528G>T, XM_011534063.1:c.1528G>T, XM_011534064.4:c.1486G>T, XM_011534064.3:c.1486G>T, XM_011534064.2:c.1486G>T, XM_011534064.1:c.1486G>T, XM_011534061.4:c.1585G>T, XM_011534061.3:c.1585G>T, XM_011534061.2:c.1585G>T, XM_011534061.1:c.1585G>T, XM_011534065.4:c.1486G>T, XM_011534065.3:c.1486G>T, XM_011534065.2:c.1486G>T, XM_011534065.1:c.1486G>T, XM_011534059.3:c.1585G>T, XM_011534059.2:c.1585G>T, XM_011534059.1:c.1585G>T, NM_001291694.2:c.1429G>T, NM_001291694.1:c.1429G>T, XM_024453739.2:c.892G>T, XM_024453739.1:c.892G>T, XM_047448833.1:c.1528G>T, XM_047448829.1:c.1585G>T, XM_047448836.1:c.1528G>T, XM_047448837.1:c.1528G>T, XM_047448838.1:c.1486G>T, XM_047448835.1:c.1429G>T, XM_047448831.1:c.1528G>T, XM_047448828.1:c.1585G>T, XM_047448826.1:c.1585G>T, XM_047448825.1:c.1585G>T, XM_047448830.1:c.1528G>T, XM_047448827.1:c.1585G>T, XM_047448832.1:c.1528G>T, XM_047448824.1:c.1585G>T, XM_047448834.1:c.1486G>T, NP_003289.2:p.Glu496Ter, XP_011532368.1:p.Glu496Ter, XP_011532360.1:p.Glu529Ter, XP_011532365.1:p.Glu510Ter, XP_011532366.1:p.Glu496Ter, XP_011532363.1:p.Glu529Ter, XP_011532367.1:p.Glu496Ter, XP_011532361.1:p.Glu529Ter, NP_001278623.1:p.Glu477Ter, XP_024309507.1:p.Glu298Ter, XP_047304789.1:p.Glu510Ter, XP_047304785.1:p.Glu529Ter, XP_047304792.1:p.Glu510Ter, XP_047304793.1:p.Glu510Ter, XP_047304794.1:p.Glu496Ter, XP_047304791.1:p.Glu477Ter, XP_047304787.1:p.Glu510Ter, XP_047304784.1:p.Glu529Ter, XP_047304782.1:p.Glu529Ter, XP_047304781.1:p.Glu529Ter, XP_047304786.1:p.Glu510Ter, XP_047304783.1:p.Glu529Ter, XP_047304788.1:p.Glu510Ter, XP_047304780.1:p.Glu529Ter, XP_047304790.1:p.Glu496Ter

                                  17.

                                  rs1463678374 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:15004571 (GRCh38)
                                    3:15046078 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:15004570:C:T
                                    Gene:
                                    NR2C2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.15004571C>T, NC_000003.11:g.15046078C>T, NM_003298.5:c.87C>T, NM_003298.4:c.87C>T, NM_003298.3:c.87C>T, XM_011534066.4:c.87C>T, XM_011534066.3:c.87C>T, XM_011534066.2:c.87C>T, XM_011534066.1:c.87C>T, XM_011534058.4:c.186C>T, XM_011534058.3:c.186C>T, XM_011534058.2:c.186C>T, XM_011534058.1:c.186C>T, XM_011534064.4:c.87C>T, XM_011534064.3:c.87C>T, XM_011534064.2:c.87C>T, XM_011534064.1:c.87C>T, XM_011534061.4:c.186C>T, XM_011534061.3:c.186C>T, XM_011534061.2:c.186C>T, XM_011534061.1:c.186C>T, XM_011534065.4:c.87C>T, XM_011534065.3:c.87C>T, XM_011534065.2:c.87C>T, XM_011534065.1:c.87C>T, XM_011534059.3:c.186C>T, XM_011534059.2:c.186C>T, XM_011534059.1:c.186C>T, XM_047448833.1:c.129C>T, XM_047448829.1:c.186C>T, XM_047448838.1:c.87C>T, XM_047448828.1:c.186C>T, XM_047448826.1:c.186C>T, XM_047448825.1:c.186C>T, XM_047448827.1:c.186C>T, XM_047448824.1:c.186C>T, XM_047448834.1:c.87C>T

                                    18.

                                    rs1463341281 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:15038080 (GRCh38)
                                      3:15079587 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:15038079:C:T
                                      Gene:
                                      NR2C2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.15038080C>T, NC_000003.11:g.15079587C>T, NM_003298.5:c.1510C>T, NM_003298.4:c.1510C>T, NM_003298.3:c.1510C>T, XM_011534066.4:c.1510C>T, XM_011534066.3:c.1510C>T, XM_011534066.2:c.1510C>T, XM_011534066.1:c.1510C>T, XM_011534058.4:c.1609C>T, XM_011534058.3:c.1609C>T, XM_011534058.2:c.1609C>T, XM_011534058.1:c.1609C>T, XM_011534063.4:c.1552C>T, XM_011534063.3:c.1552C>T, XM_011534063.2:c.1552C>T, XM_011534063.1:c.1552C>T, XM_011534064.4:c.1510C>T, XM_011534064.3:c.1510C>T, XM_011534064.2:c.1510C>T, XM_011534064.1:c.1510C>T, XM_011534061.4:c.1609C>T, XM_011534061.3:c.1609C>T, XM_011534061.2:c.1609C>T, XM_011534061.1:c.1609C>T, XM_011534065.4:c.1510C>T, XM_011534065.3:c.1510C>T, XM_011534065.2:c.1510C>T, XM_011534065.1:c.1510C>T, XM_011534059.3:c.1609C>T, XM_011534059.2:c.1609C>T, XM_011534059.1:c.1609C>T, NM_001291694.2:c.1453C>T, NM_001291694.1:c.1453C>T, XM_024453739.2:c.916C>T, XM_024453739.1:c.916C>T, XM_047448833.1:c.1552C>T, XM_047448829.1:c.1609C>T, XM_047448836.1:c.1552C>T, XM_047448837.1:c.1552C>T, XM_047448838.1:c.1510C>T, XM_047448835.1:c.1453C>T, XM_047448831.1:c.1552C>T, XM_047448828.1:c.1609C>T, XM_047448826.1:c.1609C>T, XM_047448825.1:c.1609C>T, XM_047448830.1:c.1552C>T, XM_047448827.1:c.1609C>T, XM_047448832.1:c.1552C>T, XM_047448824.1:c.1609C>T, XM_047448834.1:c.1510C>T

                                      19.

                                      rs1463299554 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        3:15003877 (GRCh38)
                                        3:15045384 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:15003876:T:A
                                        Gene:
                                        NR2C2 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.15003877T>A, NC_000003.11:g.15045384T>A, NM_003298.5:c.-38T>A, NM_003298.4:c.-38T>A, NM_003298.3:c.-38T>A, XM_011534066.4:c.-38T>A, XM_011534066.3:c.-38T>A, XM_011534066.2:c.-38T>A, XM_011534066.1:c.-38T>A, XM_011534058.4:c.62T>A, XM_011534058.3:c.62T>A, XM_011534058.2:c.62T>A, XM_011534058.1:c.62T>A, XM_011534063.4:c.62T>A, XM_011534063.3:c.62T>A, XM_011534063.2:c.62T>A, XM_011534063.1:c.62T>A, XM_011534064.4:c.-38T>A, XM_011534064.3:c.-38T>A, XM_011534064.2:c.-38T>A, XM_011534064.1:c.-38T>A, XM_011534061.4:c.62T>A, XM_011534061.3:c.62T>A, XM_011534061.2:c.62T>A, XM_011534061.1:c.62T>A, XM_011534065.4:c.-38T>A, XM_011534065.3:c.-38T>A, XM_011534065.2:c.-38T>A, XM_011534065.1:c.-38T>A, XM_011534059.3:c.62T>A, XM_011534059.2:c.62T>A, XM_011534059.1:c.62T>A, NM_001291694.2:c.-38T>A, NM_001291694.1:c.-38T>A, XM_047448833.1:c.5T>A, XM_047448829.1:c.62T>A, XM_047448836.1:c.62T>A, XM_047448837.1:c.62T>A, XM_047448838.1:c.-38T>A, XM_047448835.1:c.-38T>A, XM_047448831.1:c.62T>A, XM_047448828.1:c.62T>A, XM_047448826.1:c.62T>A, XM_047448825.1:c.62T>A, XM_047448830.1:c.62T>A, XM_047448827.1:c.62T>A, XM_047448832.1:c.62T>A, XM_047448824.1:c.62T>A, XM_047448834.1:c.-38T>A, XP_011532360.1:p.Val21Glu, XP_011532365.1:p.Val21Glu, XP_011532363.1:p.Val21Glu, XP_011532361.1:p.Val21Glu, XP_047304789.1:p.Val2Glu, XP_047304785.1:p.Val21Glu, XP_047304792.1:p.Val21Glu, XP_047304793.1:p.Val21Glu, XP_047304787.1:p.Val21Glu, XP_047304784.1:p.Val21Glu, XP_047304782.1:p.Val21Glu, XP_047304781.1:p.Val21Glu, XP_047304786.1:p.Val21Glu, XP_047304783.1:p.Val21Glu, XP_047304788.1:p.Val21Glu, XP_047304780.1:p.Val21Glu

                                        20.

                                        rs1463200963 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:15032498 (GRCh38)
                                          3:15074005 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:15032497:T:C
                                          Gene:
                                          NR2C2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.15032498T>C, NC_000003.11:g.15074005T>C, NM_003298.5:c.1287T>C, NM_003298.4:c.1287T>C, NM_003298.3:c.1287T>C, XM_011534066.4:c.1287T>C, XM_011534066.3:c.1287T>C, XM_011534066.2:c.1287T>C, XM_011534066.1:c.1287T>C, XM_011534058.4:c.1386T>C, XM_011534058.3:c.1386T>C, XM_011534058.2:c.1386T>C, XM_011534058.1:c.1386T>C, XM_011534063.4:c.1329T>C, XM_011534063.3:c.1329T>C, XM_011534063.2:c.1329T>C, XM_011534063.1:c.1329T>C, XM_011534064.4:c.1287T>C, XM_011534064.3:c.1287T>C, XM_011534064.2:c.1287T>C, XM_011534064.1:c.1287T>C, XM_011534061.4:c.1386T>C, XM_011534061.3:c.1386T>C, XM_011534061.2:c.1386T>C, XM_011534061.1:c.1386T>C, XM_011534065.4:c.1287T>C, XM_011534065.3:c.1287T>C, XM_011534065.2:c.1287T>C, XM_011534065.1:c.1287T>C, XM_011534059.3:c.1386T>C, XM_011534059.2:c.1386T>C, XM_011534059.1:c.1386T>C, NM_001291694.2:c.1230T>C, NM_001291694.1:c.1230T>C, XM_024453739.2:c.693T>C, XM_024453739.1:c.693T>C, XM_047448833.1:c.1329T>C, XM_047448829.1:c.1386T>C, XM_047448836.1:c.1329T>C, XM_047448837.1:c.1329T>C, XM_047448838.1:c.1287T>C, XM_047448835.1:c.1230T>C, XM_047448831.1:c.1329T>C, XM_047448828.1:c.1386T>C, XM_047448826.1:c.1386T>C, XM_047448825.1:c.1386T>C, XM_047448830.1:c.1329T>C, XM_047448827.1:c.1386T>C, XM_047448832.1:c.1329T>C, XM_047448824.1:c.1386T>C, XM_047448834.1:c.1287T>C

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