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Items: 1 to 20 of 1000

1.

rs1489931543 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    22:49774268 (GRCh38)
    22:50167916 (GRCh37)
    Canonical SPDI:
    NC_000022.11:49774267:C:T
    Gene:
    BRD1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000008/2 (GnomAD_exomes)
    T=0.000019/5 (TOPMED)
    T=0.000021/3 (GnomAD)
    HGVS:
    NC_000022.11:g.49774268C>T, NC_000022.10:g.50167916C>T, NM_001304808.3:c.3535G>A, NM_001304808.2:c.3535G>A, NM_001304808.1:c.3535G>A, XM_017028722.3:c.3697G>A, XM_017028722.2:c.2374G>A, XM_017028722.1:c.2374G>A, NR_146335.2:n.4241G>A, NR_146335.1:n.3864G>A, XM_017028716.2:c.3535G>A, XM_017028716.1:c.3535G>A, NM_001349942.2:c.1993G>A, NM_001349942.1:c.1993G>A, NM_001349941.2:c.3520G>A, NM_001349941.1:c.3520G>A, NR_146334.2:n.3844G>A, NR_146334.1:n.3467G>A, NM_001349940.2:c.3289G>A, NM_001349940.1:c.3289G>A, XM_017028718.2:c.3037G>A, XM_017028718.1:c.3037G>A, XM_047441278.1:c.3421G>A, NM_001394552.1:c.3142G>A, XM_047441274.1:c.3535G>A, NM_001394548.1:c.3529G>A, NM_001394549.1:c.3514G>A, XM_047441281.1:c.3697G>A, XM_047441271.1:c.3691G>A, NM_014577.1:c.3142G>A, NM_001394551.1:c.3142G>A, NM_001304809.1:c.3142G>A, XM_047441272.1:c.3304G>A, XM_047441273.1:c.3298G>A, XM_047441275.1:c.3199G>A, XM_047441276.1:c.3193G>A, XM_047441277.1:c.3136G>A, NM_001394550.1:c.1600G>A, NP_001291737.1:p.Gly1179Arg, XP_016884211.2:p.Gly1233Arg, XP_016884205.1:p.Gly1179Arg, NP_001336871.1:p.Gly665Arg, NP_001336870.1:p.Gly1174Arg, NP_001336869.1:p.Gly1097Arg, XP_016884207.1:p.Gly1013Arg, XP_047297234.1:p.Gly1141Arg, NP_001381481.1:p.Gly1048Arg, XP_047297230.1:p.Gly1179Arg, NP_001381477.1:p.Gly1177Arg, NP_001381478.1:p.Gly1172Arg, XP_047297237.1:p.Gly1233Arg, XP_047297227.1:p.Gly1231Arg, NP_001381480.1:p.Gly1048Arg, NP_001291738.1:p.Gly1048Arg, XP_047297228.1:p.Gly1102Arg, XP_047297229.1:p.Gly1100Arg, XP_047297231.1:p.Gly1067Arg, XP_047297232.1:p.Gly1065Arg, XP_047297233.1:p.Gly1046Arg, NP_001381479.1:p.Gly534Arg

    2.

    rs1489886084 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:49776157 (GRCh38)
      22:50169805 (GRCh37)
      Canonical SPDI:
      NC_000022.11:49776156:C:T
      Gene:
      BRD1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.49776157C>T, NC_000022.10:g.50169805C>T, NM_001304808.3:c.3124G>A, NM_001304808.2:c.3124G>A, NM_001304808.1:c.3124G>A, XM_017028722.3:c.3286G>A, XM_017028722.2:c.1963G>A, XM_017028722.1:c.1963G>A, NR_146335.2:n.3830G>A, NR_146335.1:n.3453G>A, XM_017028716.2:c.3124G>A, XM_017028716.1:c.3124G>A, NM_001349942.2:c.1582G>A, NM_001349942.1:c.1582G>A, NM_001349941.2:c.3109G>A, NM_001349941.1:c.3109G>A, NR_146334.2:n.3433G>A, NR_146334.1:n.3056G>A, NM_001349940.2:c.2878G>A, NM_001349940.1:c.2878G>A, XM_017028718.2:c.2626G>A, XM_017028718.1:c.2626G>A, XM_047441278.1:c.3010G>A, NM_001394552.1:c.2731G>A, XM_047441274.1:c.3124G>A, NM_001394548.1:c.3118G>A, NM_001394549.1:c.3103G>A, XM_047441281.1:c.3286G>A, XM_047441271.1:c.3280G>A, NM_014577.1:c.2731G>A, NM_001394551.1:c.2731G>A, NM_001304809.1:c.2731G>A, XM_047441272.1:c.2893G>A, XM_047441273.1:c.2887G>A, XM_047441275.1:c.2788G>A, XM_047441276.1:c.2782G>A, XM_047441277.1:c.2725G>A, XR_007067961.1:n.3218G>A, NM_001394550.1:c.1189G>A, NP_001291737.1:p.Val1042Ile, XP_016884211.2:p.Val1096Ile, XP_016884205.1:p.Val1042Ile, NP_001336871.1:p.Val528Ile, NP_001336870.1:p.Val1037Ile, NP_001336869.1:p.Val960Ile, XP_016884207.1:p.Val876Ile, XP_047297234.1:p.Val1004Ile, NP_001381481.1:p.Val911Ile, XP_047297230.1:p.Val1042Ile, NP_001381477.1:p.Val1040Ile, NP_001381478.1:p.Val1035Ile, XP_047297237.1:p.Val1096Ile, XP_047297227.1:p.Val1094Ile, NP_001381480.1:p.Val911Ile, NP_001291738.1:p.Val911Ile, XP_047297228.1:p.Val965Ile, XP_047297229.1:p.Val963Ile, XP_047297231.1:p.Val930Ile, XP_047297232.1:p.Val928Ile, XP_047297233.1:p.Val909Ile, NP_001381479.1:p.Val397Ile

      3.

      rs1488853923 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:49823997 (GRCh38)
        22:50217645 (GRCh37)
        Canonical SPDI:
        NC_000022.11:49823996:G:A
        Gene:
        BRD1 (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.49823997G>A, NC_000022.10:g.50217645G>A, NM_001304808.3:c.321C>T, NM_001304808.2:c.321C>T, NM_001304808.1:c.321C>T, XM_017028722.3:c.321C>T, NR_146335.2:n.712C>T, NR_146335.1:n.335C>T, XM_017028716.2:c.321C>T, XM_017028716.1:c.321C>T, NM_001349942.2:c.-1375C>T, NM_001349942.1:c.-1375C>T, NM_001349941.2:c.321C>T, NM_001349941.1:c.321C>T, NR_146334.2:n.712C>T, NR_146334.1:n.335C>T, NM_001349940.2:c.321C>T, NM_001349940.1:c.321C>T, XM_017028718.2:c.321C>T, XM_017028718.1:c.321C>T, XM_047441279.1:c.321C>T, XR_007067963.1:n.335C>T, XM_047441282.1:c.321C>T, XR_007067964.1:n.335C>T, XM_047441278.1:c.600C>T, NM_001394552.1:c.321C>T, XM_047441274.1:c.321C>T, NM_001394548.1:c.321C>T, NM_001394549.1:c.321C>T, XM_047441281.1:c.321C>T, XM_047441271.1:c.321C>T, NM_014577.1:c.321C>T, NM_001394551.1:c.321C>T, NM_001304809.1:c.321C>T, XM_047441272.1:c.321C>T, XM_047441273.1:c.321C>T, XM_047441275.1:c.321C>T, XM_047441276.1:c.321C>T, XM_047441277.1:c.321C>T, XR_007067961.1:n.335C>T, XR_007067962.1:n.335C>T, XM_047441280.1:c.321C>T, XR_007067965.1:n.335C>T, XM_047441283.1:c.321C>T

        4.

        rs1488733018 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:49824268 (GRCh38)
          22:50217916 (GRCh37)
          Canonical SPDI:
          NC_000022.11:49824267:G:A
          Gene:
          BRD1 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.49824268G>A, NC_000022.10:g.50217916G>A, NM_001304808.3:c.50C>T, NM_001304808.2:c.50C>T, NM_001304808.1:c.50C>T, XM_017028722.3:c.50C>T, NR_146335.2:n.441C>T, NR_146335.1:n.64C>T, XM_017028716.2:c.50C>T, XM_017028716.1:c.50C>T, NM_001349942.2:c.-1646C>T, NM_001349942.1:c.-1646C>T, NM_001349941.2:c.50C>T, NM_001349941.1:c.50C>T, NR_146334.2:n.441C>T, NR_146334.1:n.64C>T, NM_001349940.2:c.50C>T, NM_001349940.1:c.50C>T, XM_017028718.2:c.50C>T, XM_017028718.1:c.50C>T, XM_047441279.1:c.50C>T, XR_007067963.1:n.64C>T, XM_047441282.1:c.50C>T, XR_007067964.1:n.64C>T, XM_047441278.1:c.329C>T, NM_001394552.1:c.50C>T, XM_047441274.1:c.50C>T, NM_001394548.1:c.50C>T, NM_001394549.1:c.50C>T, XM_047441281.1:c.50C>T, XM_047441271.1:c.50C>T, NM_014577.1:c.50C>T, NM_001394551.1:c.50C>T, NM_001304809.1:c.50C>T, XM_047441272.1:c.50C>T, XM_047441273.1:c.50C>T, XM_047441275.1:c.50C>T, XM_047441276.1:c.50C>T, XM_047441277.1:c.50C>T, XR_007067961.1:n.64C>T, XR_007067962.1:n.64C>T, XM_047441280.1:c.50C>T, XR_007067965.1:n.64C>T, XM_047441283.1:c.50C>T, NP_001291737.1:p.Ser17Phe, XP_016884211.2:p.Ser17Phe, XP_016884205.1:p.Ser17Phe, NP_001336870.1:p.Ser17Phe, NP_001336869.1:p.Ser17Phe, XP_016884207.1:p.Ser17Phe, XP_047297235.1:p.Ser17Phe, XP_047297238.1:p.Ser17Phe, XP_047297234.1:p.Ser110Phe, NP_001381481.1:p.Ser17Phe, XP_047297230.1:p.Ser17Phe, NP_001381477.1:p.Ser17Phe, NP_001381478.1:p.Ser17Phe, XP_047297237.1:p.Ser17Phe, XP_047297227.1:p.Ser17Phe, NP_001381480.1:p.Ser17Phe, NP_001291738.1:p.Ser17Phe, XP_047297228.1:p.Ser17Phe, XP_047297229.1:p.Ser17Phe, XP_047297231.1:p.Ser17Phe, XP_047297232.1:p.Ser17Phe, XP_047297233.1:p.Ser17Phe, XP_047297236.1:p.Ser17Phe, XP_047297239.1:p.Ser17Phe

          5.

          rs1488228265 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:49798097 (GRCh38)
            22:50191745 (GRCh37)
            Canonical SPDI:
            NC_000022.11:49798096:G:A
            Gene:
            BRD1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000028/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000022.11:g.49798097G>A, NC_000022.10:g.50191745G>A, NM_001304808.3:c.1806C>T, NM_001304808.2:c.1806C>T, NM_001304808.1:c.1806C>T, XM_017028722.3:c.1968C>T, XM_017028722.2:c.645C>T, XM_017028722.1:c.645C>T, NR_146335.2:n.2512C>T, NR_146335.1:n.2135C>T, XM_017028716.2:c.1806C>T, XM_017028716.1:c.1806C>T, NM_001349942.2:c.264C>T, NM_001349942.1:c.264C>T, NM_001349941.2:c.1791C>T, NM_001349941.1:c.1791C>T, NR_146334.2:n.2197C>T, NR_146334.1:n.1820C>T, NM_001349940.2:c.1953C>T, NM_001349940.1:c.1953C>T, XM_017028718.2:c.1806C>T, XM_017028718.1:c.1806C>T, XM_047441279.1:c.1968C>T, XR_007067963.1:n.1982C>T, XM_047441282.1:c.1968C>T, XR_007067964.1:n.1982C>T, XM_047441278.1:c.2085C>T, NM_001394552.1:c.1806C>T, XM_047441274.1:c.1806C>T, NM_001394548.1:c.1800C>T, NM_001394549.1:c.1785C>T, XM_047441281.1:c.1968C>T, XM_047441271.1:c.1962C>T, NM_014577.1:c.1806C>T, NM_001394551.1:c.1806C>T, NM_001304809.1:c.1806C>T, XM_047441272.1:c.1968C>T, XM_047441273.1:c.1962C>T, XM_047441275.1:c.1968C>T, XM_047441276.1:c.1962C>T, XM_047441277.1:c.1800C>T, XR_007067961.1:n.1982C>T, XR_007067962.1:n.1982C>T, NM_001394550.1:c.264C>T, XM_047441280.1:c.1968C>T, XR_007067965.1:n.1820C>T, XM_047441283.1:c.1968C>T

            6.

            rs1487242752 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:49823204 (GRCh38)
              22:50216852 (GRCh37)
              Canonical SPDI:
              NC_000022.11:49823203:C:T
              Gene:
              BRD1 (Varview)
              Functional Consequence:
              intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.49823204C>T, NC_000022.10:g.50216852C>T, NM_001304808.3:c.1114G>A, NM_001304808.2:c.1114G>A, NM_001304808.1:c.1114G>A, XM_017028722.3:c.1114G>A, NR_146335.2:n.1505G>A, NR_146335.1:n.1128G>A, XM_017028716.2:c.1114G>A, XM_017028716.1:c.1114G>A, NM_001349942.2:c.-582G>A, NM_001349942.1:c.-582G>A, NM_001349941.2:c.1114G>A, NM_001349941.1:c.1114G>A, NR_146334.2:n.1505G>A, NR_146334.1:n.1128G>A, NM_001349940.2:c.1114G>A, NM_001349940.1:c.1114G>A, XM_017028718.2:c.1114G>A, XM_017028718.1:c.1114G>A, XM_047441279.1:c.1114G>A, XR_007067963.1:n.1128G>A, XM_047441282.1:c.1114G>A, XR_007067964.1:n.1128G>A, XM_047441278.1:c.1393G>A, NM_001394552.1:c.1114G>A, XM_047441274.1:c.1114G>A, NM_001394548.1:c.1114G>A, NM_001394549.1:c.1114G>A, XM_047441281.1:c.1114G>A, XM_047441271.1:c.1114G>A, NM_014577.1:c.1114G>A, NM_001394551.1:c.1114G>A, NM_001304809.1:c.1114G>A, XM_047441272.1:c.1114G>A, XM_047441273.1:c.1114G>A, XM_047441275.1:c.1114G>A, XM_047441276.1:c.1114G>A, XM_047441277.1:c.1114G>A, XR_007067961.1:n.1128G>A, XR_007067962.1:n.1128G>A, XM_047441280.1:c.1114G>A, XR_007067965.1:n.1128G>A, XM_047441283.1:c.1114G>A, NP_001291737.1:p.Gly372Ser, XP_016884211.2:p.Gly372Ser, XP_016884205.1:p.Gly372Ser, NP_001336870.1:p.Gly372Ser, NP_001336869.1:p.Gly372Ser, XP_016884207.1:p.Gly372Ser, XP_047297235.1:p.Gly372Ser, XP_047297238.1:p.Gly372Ser, XP_047297234.1:p.Gly465Ser, NP_001381481.1:p.Gly372Ser, XP_047297230.1:p.Gly372Ser, NP_001381477.1:p.Gly372Ser, NP_001381478.1:p.Gly372Ser, XP_047297237.1:p.Gly372Ser, XP_047297227.1:p.Gly372Ser, NP_001381480.1:p.Gly372Ser, NP_001291738.1:p.Gly372Ser, XP_047297228.1:p.Gly372Ser, XP_047297229.1:p.Gly372Ser, XP_047297231.1:p.Gly372Ser, XP_047297232.1:p.Gly372Ser, XP_047297233.1:p.Gly372Ser, XP_047297236.1:p.Gly372Ser, XP_047297239.1:p.Gly372Ser

              7.

              rs1486138035 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:49823404 (GRCh38)
                22:50217052 (GRCh37)
                Canonical SPDI:
                NC_000022.11:49823403:T:C
                Gene:
                BRD1 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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.49823404T>C, NC_000022.10:g.50217052T>C, NM_001304808.3:c.914A>G, NM_001304808.2:c.914A>G, NM_001304808.1:c.914A>G, XM_017028722.3:c.914A>G, NR_146335.2:n.1305A>G, NR_146335.1:n.928A>G, XM_017028716.2:c.914A>G, XM_017028716.1:c.914A>G, NM_001349942.2:c.-782A>G, NM_001349942.1:c.-782A>G, NM_001349941.2:c.914A>G, NM_001349941.1:c.914A>G, NR_146334.2:n.1305A>G, NR_146334.1:n.928A>G, NM_001349940.2:c.914A>G, NM_001349940.1:c.914A>G, XM_017028718.2:c.914A>G, XM_017028718.1:c.914A>G, XM_047441279.1:c.914A>G, XR_007067963.1:n.928A>G, XM_047441282.1:c.914A>G, XR_007067964.1:n.928A>G, XM_047441278.1:c.1193A>G, NM_001394552.1:c.914A>G, XM_047441274.1:c.914A>G, NM_001394548.1:c.914A>G, NM_001394549.1:c.914A>G, XM_047441281.1:c.914A>G, XM_047441271.1:c.914A>G, NM_014577.1:c.914A>G, NM_001394551.1:c.914A>G, NM_001304809.1:c.914A>G, XM_047441272.1:c.914A>G, XM_047441273.1:c.914A>G, XM_047441275.1:c.914A>G, XM_047441276.1:c.914A>G, XM_047441277.1:c.914A>G, XR_007067961.1:n.928A>G, XR_007067962.1:n.928A>G, XM_047441280.1:c.914A>G, XR_007067965.1:n.928A>G, XM_047441283.1:c.914A>G, NP_001291737.1:p.Asn305Ser, XP_016884211.2:p.Asn305Ser, XP_016884205.1:p.Asn305Ser, NP_001336870.1:p.Asn305Ser, NP_001336869.1:p.Asn305Ser, XP_016884207.1:p.Asn305Ser, XP_047297235.1:p.Asn305Ser, XP_047297238.1:p.Asn305Ser, XP_047297234.1:p.Asn398Ser, NP_001381481.1:p.Asn305Ser, XP_047297230.1:p.Asn305Ser, NP_001381477.1:p.Asn305Ser, NP_001381478.1:p.Asn305Ser, XP_047297237.1:p.Asn305Ser, XP_047297227.1:p.Asn305Ser, NP_001381480.1:p.Asn305Ser, NP_001291738.1:p.Asn305Ser, XP_047297228.1:p.Asn305Ser, XP_047297229.1:p.Asn305Ser, XP_047297231.1:p.Asn305Ser, XP_047297232.1:p.Asn305Ser, XP_047297233.1:p.Asn305Ser, XP_047297236.1:p.Asn305Ser, XP_047297239.1:p.Asn305Ser

                8.

                rs1485947237 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  22:49787721 (GRCh38)
                  22:50181369 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:49787720:A:C
                  Gene:
                  BRD1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1485287558 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    22:49823844 (GRCh38)
                    22:50217492 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:49823843:C:G
                    Gene:
                    BRD1 (Varview)
                    Functional Consequence:
                    intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000022.11:g.49823844C>G, NC_000022.10:g.50217492C>G, NM_001304808.3:c.474G>C, NM_001304808.2:c.474G>C, NM_001304808.1:c.474G>C, XM_017028722.3:c.474G>C, NR_146335.2:n.865G>C, NR_146335.1:n.488G>C, XM_017028716.2:c.474G>C, XM_017028716.1:c.474G>C, NM_001349942.2:c.-1222G>C, NM_001349942.1:c.-1222G>C, NM_001349941.2:c.474G>C, NM_001349941.1:c.474G>C, NR_146334.2:n.865G>C, NR_146334.1:n.488G>C, NM_001349940.2:c.474G>C, NM_001349940.1:c.474G>C, XM_017028718.2:c.474G>C, XM_017028718.1:c.474G>C, XM_047441279.1:c.474G>C, XR_007067963.1:n.488G>C, XM_047441282.1:c.474G>C, XR_007067964.1:n.488G>C, XM_047441278.1:c.753G>C, NM_001394552.1:c.474G>C, XM_047441274.1:c.474G>C, NM_001394548.1:c.474G>C, NM_001394549.1:c.474G>C, XM_047441281.1:c.474G>C, XM_047441271.1:c.474G>C, NM_014577.1:c.474G>C, NM_001394551.1:c.474G>C, NM_001304809.1:c.474G>C, XM_047441272.1:c.474G>C, XM_047441273.1:c.474G>C, XM_047441275.1:c.474G>C, XM_047441276.1:c.474G>C, XM_047441277.1:c.474G>C, XR_007067961.1:n.488G>C, XR_007067962.1:n.488G>C, XM_047441280.1:c.474G>C, XR_007067965.1:n.488G>C, XM_047441283.1:c.474G>C, NP_001291737.1:p.Met158Ile, XP_016884211.2:p.Met158Ile, XP_016884205.1:p.Met158Ile, NP_001336870.1:p.Met158Ile, NP_001336869.1:p.Met158Ile, XP_016884207.1:p.Met158Ile, XP_047297235.1:p.Met158Ile, XP_047297238.1:p.Met158Ile, XP_047297234.1:p.Met251Ile, NP_001381481.1:p.Met158Ile, XP_047297230.1:p.Met158Ile, NP_001381477.1:p.Met158Ile, NP_001381478.1:p.Met158Ile, XP_047297237.1:p.Met158Ile, XP_047297227.1:p.Met158Ile, NP_001381480.1:p.Met158Ile, NP_001291738.1:p.Met158Ile, XP_047297228.1:p.Met158Ile, XP_047297229.1:p.Met158Ile, XP_047297231.1:p.Met158Ile, XP_047297232.1:p.Met158Ile, XP_047297233.1:p.Met158Ile, XP_047297236.1:p.Met158Ile, XP_047297239.1:p.Met158Ile

                    10.

                    rs1484775359 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:49787846 (GRCh38)
                      22:50181494 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:49787845:G:A
                      Gene:
                      BRD1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000022.11:g.49787846G>A, NC_000022.10:g.50181494G>A, NM_001304808.3:c.2401C>T, NM_001304808.2:c.2401C>T, NM_001304808.1:c.2401C>T, XM_017028722.3:c.2563C>T, XM_017028722.2:c.1240C>T, XM_017028722.1:c.1240C>T, NR_146335.2:n.3107C>T, NR_146335.1:n.2730C>T, XM_017028716.2:c.2401C>T, XM_017028716.1:c.2401C>T, NM_001349942.2:c.859C>T, NM_001349942.1:c.859C>T, NM_001349941.2:c.2386C>T, NM_001349941.1:c.2386C>T, NR_146334.2:n.2792C>T, NR_146334.1:n.2415C>T, XM_047441279.1:c.2563C>T, XR_007067963.1:n.2577C>T, XM_047441282.1:c.2563C>T, XR_007067964.1:n.2577C>T, XM_047441274.1:c.2401C>T, NM_001394548.1:c.2395C>T, NM_001394549.1:c.2380C>T, XM_047441281.1:c.2563C>T, XM_047441271.1:c.2557C>T, XR_007067961.1:n.2577C>T, XR_007067962.1:n.2577C>T, XM_047441280.1:c.2563C>T, NP_001291737.1:p.Pro801Ser, XP_016884211.2:p.Pro855Ser, XP_016884205.1:p.Pro801Ser, NP_001336871.1:p.Pro287Ser, NP_001336870.1:p.Pro796Ser, XP_047297235.1:p.Pro855Ser, XP_047297238.1:p.Pro855Ser, XP_047297230.1:p.Pro801Ser, NP_001381477.1:p.Pro799Ser, NP_001381478.1:p.Pro794Ser, XP_047297237.1:p.Pro855Ser, XP_047297227.1:p.Pro853Ser, XP_047297236.1:p.Pro855Ser

                      11.

                      rs1483560779 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        22:49774386 (GRCh38)
                        22:50168034 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:49774385:G:A,NC_000022.11:49774385:G:C,NC_000022.11:49774385:G:T
                        Gene:
                        BRD1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000022.11:g.49774386G>A, NC_000022.11:g.49774386G>C, NC_000022.11:g.49774386G>T, NC_000022.10:g.50168034G>A, NC_000022.10:g.50168034G>C, NC_000022.10:g.50168034G>T, NM_001304808.3:c.3417C>T, NM_001304808.3:c.3417C>G, NM_001304808.3:c.3417C>A, NM_001304808.2:c.3417C>T, NM_001304808.2:c.3417C>G, NM_001304808.2:c.3417C>A, NM_001304808.1:c.3417C>T, NM_001304808.1:c.3417C>G, NM_001304808.1:c.3417C>A, XM_017028722.3:c.3579C>T, XM_017028722.3:c.3579C>G, XM_017028722.3:c.3579C>A, XM_017028722.2:c.2256C>T, XM_017028722.2:c.2256C>G, XM_017028722.2:c.2256C>A, XM_017028722.1:c.2256C>T, XM_017028722.1:c.2256C>G, XM_017028722.1:c.2256C>A, NR_146335.2:n.4123C>T, NR_146335.2:n.4123C>G, NR_146335.2:n.4123C>A, NR_146335.1:n.3746C>T, NR_146335.1:n.3746C>G, NR_146335.1:n.3746C>A, XM_017028716.2:c.3417C>T, XM_017028716.2:c.3417C>G, XM_017028716.2:c.3417C>A, XM_017028716.1:c.3417C>T, XM_017028716.1:c.3417C>G, XM_017028716.1:c.3417C>A, NM_001349942.2:c.1875C>T, NM_001349942.2:c.1875C>G, NM_001349942.2:c.1875C>A, NM_001349942.1:c.1875C>T, NM_001349942.1:c.1875C>G, NM_001349942.1:c.1875C>A, NM_001349941.2:c.3402C>T, NM_001349941.2:c.3402C>G, NM_001349941.2:c.3402C>A, NM_001349941.1:c.3402C>T, NM_001349941.1:c.3402C>G, NM_001349941.1:c.3402C>A, NR_146334.2:n.3726C>T, NR_146334.2:n.3726C>G, NR_146334.2:n.3726C>A, NR_146334.1:n.3349C>T, NR_146334.1:n.3349C>G, NR_146334.1:n.3349C>A, NM_001349940.2:c.3171C>T, NM_001349940.2:c.3171C>G, NM_001349940.2:c.3171C>A, NM_001349940.1:c.3171C>T, NM_001349940.1:c.3171C>G, NM_001349940.1:c.3171C>A, XM_017028718.2:c.2919C>T, XM_017028718.2:c.2919C>G, XM_017028718.2:c.2919C>A, XM_017028718.1:c.2919C>T, XM_017028718.1:c.2919C>G, XM_017028718.1:c.2919C>A, XM_047441278.1:c.3303C>T, XM_047441278.1:c.3303C>G, XM_047441278.1:c.3303C>A, NM_001394552.1:c.3024C>T, NM_001394552.1:c.3024C>G, NM_001394552.1:c.3024C>A, XM_047441274.1:c.3417C>T, XM_047441274.1:c.3417C>G, XM_047441274.1:c.3417C>A, NM_001394548.1:c.3411C>T, NM_001394548.1:c.3411C>G, NM_001394548.1:c.3411C>A, NM_001394549.1:c.3396C>T, NM_001394549.1:c.3396C>G, NM_001394549.1:c.3396C>A, XM_047441281.1:c.3579C>T, XM_047441281.1:c.3579C>G, XM_047441281.1:c.3579C>A, XM_047441271.1:c.3573C>T, XM_047441271.1:c.3573C>G, XM_047441271.1:c.3573C>A, NM_014577.1:c.3024C>T, NM_014577.1:c.3024C>G, NM_014577.1:c.3024C>A, NM_001394551.1:c.3024C>T, NM_001394551.1:c.3024C>G, NM_001394551.1:c.3024C>A, NM_001304809.1:c.3024C>T, NM_001304809.1:c.3024C>G, NM_001304809.1:c.3024C>A, XM_047441272.1:c.3186C>T, XM_047441272.1:c.3186C>G, XM_047441272.1:c.3186C>A, XM_047441273.1:c.3180C>T, XM_047441273.1:c.3180C>G, XM_047441273.1:c.3180C>A, XM_047441275.1:c.3081C>T, XM_047441275.1:c.3081C>G, XM_047441275.1:c.3081C>A, XM_047441276.1:c.3075C>T, XM_047441276.1:c.3075C>G, XM_047441276.1:c.3075C>A, XM_047441277.1:c.3018C>T, XM_047441277.1:c.3018C>G, XM_047441277.1:c.3018C>A, NM_001394550.1:c.1482C>T, NM_001394550.1:c.1482C>G, NM_001394550.1:c.1482C>A

                        12.

                        rs1483345860 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          22:49798089 (GRCh38)
                          22:50191737 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:49798088:T:C
                          Gene:
                          BRD1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,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)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.49798089T>C, NC_000022.10:g.50191737T>C, NM_001304808.3:c.1814A>G, NM_001304808.2:c.1814A>G, NM_001304808.1:c.1814A>G, XM_017028722.3:c.1976A>G, XM_017028722.2:c.653A>G, XM_017028722.1:c.653A>G, NR_146335.2:n.2520A>G, NR_146335.1:n.2143A>G, XM_017028716.2:c.1814A>G, XM_017028716.1:c.1814A>G, NM_001349942.2:c.272A>G, NM_001349942.1:c.272A>G, NM_001349941.2:c.1799A>G, NM_001349941.1:c.1799A>G, NR_146334.2:n.2205A>G, NR_146334.1:n.1828A>G, NM_001349940.2:c.1961A>G, NM_001349940.1:c.1961A>G, XM_017028718.2:c.1814A>G, XM_017028718.1:c.1814A>G, XM_047441279.1:c.1976A>G, XR_007067963.1:n.1990A>G, XM_047441282.1:c.1976A>G, XR_007067964.1:n.1990A>G, XM_047441278.1:c.2093A>G, NM_001394552.1:c.1814A>G, XM_047441274.1:c.1814A>G, NM_001394548.1:c.1808A>G, NM_001394549.1:c.1793A>G, XM_047441281.1:c.1976A>G, XM_047441271.1:c.1970A>G, NM_014577.1:c.1814A>G, NM_001394551.1:c.1814A>G, NM_001304809.1:c.1814A>G, XM_047441272.1:c.1976A>G, XM_047441273.1:c.1970A>G, XM_047441275.1:c.1976A>G, XM_047441276.1:c.1970A>G, XM_047441277.1:c.1808A>G, XR_007067961.1:n.1990A>G, XR_007067962.1:n.1990A>G, NM_001394550.1:c.272A>G, XM_047441280.1:c.1976A>G, XR_007067965.1:n.1828A>G, XM_047441283.1:c.1976A>G, NP_001291737.1:p.His605Arg, XP_016884211.2:p.His659Arg, XP_016884205.1:p.His605Arg, NP_001336871.1:p.His91Arg, NP_001336870.1:p.His600Arg, NP_001336869.1:p.His654Arg, XP_016884207.1:p.His605Arg, XP_047297235.1:p.His659Arg, XP_047297238.1:p.His659Arg, XP_047297234.1:p.His698Arg, NP_001381481.1:p.His605Arg, XP_047297230.1:p.His605Arg, NP_001381477.1:p.His603Arg, NP_001381478.1:p.His598Arg, XP_047297237.1:p.His659Arg, XP_047297227.1:p.His657Arg, NP_001381480.1:p.His605Arg, NP_001291738.1:p.His605Arg, XP_047297228.1:p.His659Arg, XP_047297229.1:p.His657Arg, XP_047297231.1:p.His659Arg, XP_047297232.1:p.His657Arg, XP_047297233.1:p.His603Arg, NP_001381479.1:p.His91Arg, XP_047297236.1:p.His659Arg, XP_047297239.1:p.His659Arg

                          13.

                          rs1482289039 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            22:49787442 (GRCh38)
                            22:50181090 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:49787441:T:C,NC_000022.11:49787441:T:G
                            Gene:
                            BRD1 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000054/1 (ALFA)
                            G=0.000015/4 (TOPMED)
                            C=0.000223/1 (Estonian)
                            HGVS:
                            NC_000022.11:g.49787442T>C, NC_000022.11:g.49787442T>G, NC_000022.10:g.50181090T>C, NC_000022.10:g.50181090T>G, NM_001304808.3:c.2805A>G, NM_001304808.3:c.2805A>C, NM_001304808.2:c.2805A>G, NM_001304808.2:c.2805A>C, NM_001304808.1:c.2805A>G, NM_001304808.1:c.2805A>C, XM_017028722.3:c.2967A>G, XM_017028722.3:c.2967A>C, XM_017028722.2:c.1644A>G, XM_017028722.2:c.1644A>C, XM_017028722.1:c.1644A>G, XM_017028722.1:c.1644A>C, NR_146335.2:n.3511A>G, NR_146335.2:n.3511A>C, NR_146335.1:n.3134A>G, NR_146335.1:n.3134A>C, XM_017028716.2:c.2805A>G, XM_017028716.2:c.2805A>C, XM_017028716.1:c.2805A>G, XM_017028716.1:c.2805A>C, NM_001349942.2:c.1263A>G, NM_001349942.2:c.1263A>C, NM_001349942.1:c.1263A>G, NM_001349942.1:c.1263A>C, NM_001349941.2:c.2790A>G, NM_001349941.2:c.2790A>C, NM_001349941.1:c.2790A>G, NM_001349941.1:c.2790A>C, NR_146334.2:n.3114A>G, NR_146334.2:n.3114A>C, NR_146334.1:n.2737A>G, NR_146334.1:n.2737A>C, NM_001349940.2:c.2559A>G, NM_001349940.2:c.2559A>C, NM_001349940.1:c.2559A>G, NM_001349940.1:c.2559A>C, XM_047441279.1:c.2967A>G, XM_047441279.1:c.2967A>C, XR_007067963.1:n.2981A>G, XR_007067963.1:n.2981A>C, XM_047441282.1:c.2885A>G, XM_047441282.1:c.2885A>C, XR_007067964.1:n.2981A>G, XR_007067964.1:n.2981A>C, XM_047441278.1:c.2691A>G, XM_047441278.1:c.2691A>C, NM_001394552.1:c.2412A>G, NM_001394552.1:c.2412A>C, XM_047441274.1:c.2805A>G, XM_047441274.1:c.2805A>C, NM_001394548.1:c.2799A>G, NM_001394548.1:c.2799A>C, NM_001394549.1:c.2784A>G, NM_001394549.1:c.2784A>C, XM_047441281.1:c.2967A>G, XM_047441281.1:c.2967A>C, XM_047441271.1:c.2961A>G, XM_047441271.1:c.2961A>C, NM_014577.1:c.2412A>G, NM_014577.1:c.2412A>C, NM_001394551.1:c.2412A>G, NM_001394551.1:c.2412A>C, NM_001304809.1:c.2412A>G, NM_001304809.1:c.2412A>C, XM_047441272.1:c.2574A>G, XM_047441272.1:c.2574A>C, XM_047441273.1:c.2568A>G, XM_047441273.1:c.2568A>C, XM_047441277.1:c.2406A>G, XM_047441277.1:c.2406A>C, XR_007067961.1:n.2899A>G, XR_007067961.1:n.2899A>C, XR_007067962.1:n.2899A>G, XR_007067962.1:n.2899A>C, NM_001394550.1:c.870A>G, NM_001394550.1:c.870A>C, XM_047441280.1:c.2967A>G, XM_047441280.1:c.2967A>C, XR_007067965.1:n.2426A>G, XR_007067965.1:n.2426A>C, XP_047297238.1:p.His962Arg, XP_047297238.1:p.His962Pro

                            14.

                            rs1481760755 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              22:49787491 (GRCh38)
                              22:50181139 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:49787490:A:G
                              Gene:
                              BRD1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.49787491A>G, NC_000022.10:g.50181139A>G, NM_001304808.3:c.2756T>C, NM_001304808.2:c.2756T>C, NM_001304808.1:c.2756T>C, XM_017028722.3:c.2918T>C, XM_017028722.2:c.1595T>C, XM_017028722.1:c.1595T>C, NR_146335.2:n.3462T>C, NR_146335.1:n.3085T>C, XM_017028716.2:c.2756T>C, XM_017028716.1:c.2756T>C, NM_001349942.2:c.1214T>C, NM_001349942.1:c.1214T>C, NM_001349941.2:c.2741T>C, NM_001349941.1:c.2741T>C, NR_146334.2:n.3065T>C, NR_146334.1:n.2688T>C, NM_001349940.2:c.2510T>C, NM_001349940.1:c.2510T>C, XM_047441279.1:c.2918T>C, XR_007067963.1:n.2932T>C, XM_047441282.1:c.2836T>C, XR_007067964.1:n.2932T>C, XM_047441278.1:c.2642T>C, NM_001394552.1:c.2363T>C, XM_047441274.1:c.2756T>C, NM_001394548.1:c.2750T>C, NM_001394549.1:c.2735T>C, XM_047441281.1:c.2918T>C, XM_047441271.1:c.2912T>C, NM_014577.1:c.2363T>C, NM_001394551.1:c.2363T>C, NM_001304809.1:c.2363T>C, XM_047441272.1:c.2525T>C, XM_047441273.1:c.2519T>C, XM_047441277.1:c.2357T>C, XR_007067961.1:n.2850T>C, XR_007067962.1:n.2850T>C, NM_001394550.1:c.821T>C, XM_047441280.1:c.2918T>C, XR_007067965.1:n.2377T>C, NP_001291737.1:p.Leu919Pro, XP_016884211.2:p.Leu973Pro, XP_016884205.1:p.Leu919Pro, NP_001336871.1:p.Leu405Pro, NP_001336870.1:p.Leu914Pro, NP_001336869.1:p.Leu837Pro, XP_047297235.1:p.Leu973Pro, XP_047297238.1:p.Phe946Leu, XP_047297234.1:p.Leu881Pro, NP_001381481.1:p.Leu788Pro, XP_047297230.1:p.Leu919Pro, NP_001381477.1:p.Leu917Pro, NP_001381478.1:p.Leu912Pro, XP_047297237.1:p.Leu973Pro, XP_047297227.1:p.Leu971Pro, NP_001381480.1:p.Leu788Pro, NP_001291738.1:p.Leu788Pro, XP_047297228.1:p.Leu842Pro, XP_047297229.1:p.Leu840Pro, XP_047297233.1:p.Leu786Pro, NP_001381479.1:p.Leu274Pro, XP_047297236.1:p.Leu973Pro

                              15.

                              rs1481301118 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TT>- [Show Flanks]
                                Chromosome:
                                22:49787581 (GRCh38)
                                22:50181229 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:49787578:TTTT:TT
                                Gene:
                                BRD1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                TTTT=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000022.11:g.49787581_49787582del, NC_000022.10:g.50181229_50181230del, NM_001304808.3:c.2667_2668del, NM_001304808.2:c.2667_2668del, NM_001304808.1:c.2667_2668del, XM_017028722.3:c.2829_2830del, XM_017028722.2:c.1506_1507del, XM_017028722.1:c.1506_1507del, NR_146335.2:n.3373_3374del, NR_146335.1:n.2996_2997del, XM_017028716.2:c.2667_2668del, XM_017028716.1:c.2667_2668del, NM_001349942.2:c.1125_1126del, NM_001349942.1:c.1125_1126del, NM_001349941.2:c.2652_2653del, NM_001349941.1:c.2652_2653del, NR_146334.2:n.3058_3059del, NR_146334.1:n.2681_2682del, XM_047441279.1:c.2829_2830del, XR_007067963.1:n.2843_2844del, XM_047441282.1:c.2829_2830del, XR_007067964.1:n.2843_2844del, XM_047441274.1:c.2667_2668del, NM_001394548.1:c.2661_2662del, NM_001394549.1:c.2646_2647del, XM_047441281.1:c.2829_2830del, XM_047441271.1:c.2823_2824del, XR_007067961.1:n.2843_2844del, XR_007067962.1:n.2843_2844del, XM_047441280.1:c.2829_2830del, NP_001291737.1:p.Ser890fs, XP_016884211.2:p.Ser944fs, XP_016884205.1:p.Ser890fs, NP_001336871.1:p.Ser376fs, NP_001336870.1:p.Ser885fs, XP_047297235.1:p.Ser944fs, XP_047297238.1:p.Ser944fs, XP_047297230.1:p.Ser890fs, NP_001381477.1:p.Ser888fs, NP_001381478.1:p.Ser883fs, XP_047297237.1:p.Ser944fs, XP_047297227.1:p.Ser942fs, XP_047297236.1:p.Ser944fs

                                16.

                                rs1481038534 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  22:49787514 (GRCh38)
                                  22:50181162 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:49787513:G:C
                                  Gene:
                                  BRD1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1480454974 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:49776085 (GRCh38)
                                    22:50169733 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:49776084:C:T
                                    Gene:
                                    BRD1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    HGVS:
                                    NC_000022.11:g.49776085C>T, NC_000022.10:g.50169733C>T, NM_001304808.3:c.3196G>A, NM_001304808.2:c.3196G>A, NM_001304808.1:c.3196G>A, XM_017028722.3:c.3358G>A, XM_017028722.2:c.2035G>A, XM_017028722.1:c.2035G>A, NR_146335.2:n.3902G>A, NR_146335.1:n.3525G>A, XM_017028716.2:c.3196G>A, XM_017028716.1:c.3196G>A, NM_001349942.2:c.1654G>A, NM_001349942.1:c.1654G>A, NM_001349941.2:c.3181G>A, NM_001349941.1:c.3181G>A, NR_146334.2:n.3505G>A, NR_146334.1:n.3128G>A, NM_001349940.2:c.2950G>A, NM_001349940.1:c.2950G>A, XM_017028718.2:c.2698G>A, XM_017028718.1:c.2698G>A, XM_047441278.1:c.3082G>A, NM_001394552.1:c.2803G>A, XM_047441274.1:c.3196G>A, NM_001394548.1:c.3190G>A, NM_001394549.1:c.3175G>A, XM_047441281.1:c.3358G>A, XM_047441271.1:c.3352G>A, NM_014577.1:c.2803G>A, NM_001394551.1:c.2803G>A, NM_001304809.1:c.2803G>A, XM_047441272.1:c.2965G>A, XM_047441273.1:c.2959G>A, XM_047441275.1:c.2860G>A, XM_047441276.1:c.2854G>A, XM_047441277.1:c.2797G>A, XR_007067961.1:n.3290G>A, NM_001394550.1:c.1261G>A, NP_001291737.1:p.Ala1066Thr, XP_016884211.2:p.Ala1120Thr, XP_016884205.1:p.Ala1066Thr, NP_001336871.1:p.Ala552Thr, NP_001336870.1:p.Ala1061Thr, NP_001336869.1:p.Ala984Thr, XP_016884207.1:p.Ala900Thr, XP_047297234.1:p.Ala1028Thr, NP_001381481.1:p.Ala935Thr, XP_047297230.1:p.Ala1066Thr, NP_001381477.1:p.Ala1064Thr, NP_001381478.1:p.Ala1059Thr, XP_047297237.1:p.Ala1120Thr, XP_047297227.1:p.Ala1118Thr, NP_001381480.1:p.Ala935Thr, NP_001291738.1:p.Ala935Thr, XP_047297228.1:p.Ala989Thr, XP_047297229.1:p.Ala987Thr, XP_047297231.1:p.Ala954Thr, XP_047297232.1:p.Ala952Thr, XP_047297233.1:p.Ala933Thr, NP_001381479.1:p.Ala421Thr

                                    18.

                                    rs1479967915 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      22:49824281 (GRCh38)
                                      22:50217929 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:49824280:C:T
                                      Gene:
                                      BRD1 (Varview)
                                      Functional Consequence:
                                      intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.49824281C>T, NC_000022.10:g.50217929C>T, NM_001304808.3:c.37G>A, NM_001304808.2:c.37G>A, NM_001304808.1:c.37G>A, XM_017028722.3:c.37G>A, NR_146335.2:n.428G>A, NR_146335.1:n.51G>A, XM_017028716.2:c.37G>A, XM_017028716.1:c.37G>A, NM_001349942.2:c.-1659G>A, NM_001349942.1:c.-1659G>A, NM_001349941.2:c.37G>A, NM_001349941.1:c.37G>A, NR_146334.2:n.428G>A, NR_146334.1:n.51G>A, NM_001349940.2:c.37G>A, NM_001349940.1:c.37G>A, XM_017028718.2:c.37G>A, XM_017028718.1:c.37G>A, XM_047441279.1:c.37G>A, XR_007067963.1:n.51G>A, XM_047441282.1:c.37G>A, XR_007067964.1:n.51G>A, XM_047441278.1:c.316G>A, NM_001394552.1:c.37G>A, XM_047441274.1:c.37G>A, NM_001394548.1:c.37G>A, NM_001394549.1:c.37G>A, XM_047441281.1:c.37G>A, XM_047441271.1:c.37G>A, NM_014577.1:c.37G>A, NM_001394551.1:c.37G>A, NM_001304809.1:c.37G>A, XM_047441272.1:c.37G>A, XM_047441273.1:c.37G>A, XM_047441275.1:c.37G>A, XM_047441276.1:c.37G>A, XM_047441277.1:c.37G>A, XR_007067961.1:n.51G>A, XR_007067962.1:n.51G>A, XM_047441280.1:c.37G>A, XR_007067965.1:n.51G>A, XM_047441283.1:c.37G>A, NP_001291737.1:p.Ala13Thr, XP_016884211.2:p.Ala13Thr, XP_016884205.1:p.Ala13Thr, NP_001336870.1:p.Ala13Thr, NP_001336869.1:p.Ala13Thr, XP_016884207.1:p.Ala13Thr, XP_047297235.1:p.Ala13Thr, XP_047297238.1:p.Ala13Thr, XP_047297234.1:p.Ala106Thr, NP_001381481.1:p.Ala13Thr, XP_047297230.1:p.Ala13Thr, NP_001381477.1:p.Ala13Thr, NP_001381478.1:p.Ala13Thr, XP_047297237.1:p.Ala13Thr, XP_047297227.1:p.Ala13Thr, NP_001381480.1:p.Ala13Thr, NP_001291738.1:p.Ala13Thr, XP_047297228.1:p.Ala13Thr, XP_047297229.1:p.Ala13Thr, XP_047297231.1:p.Ala13Thr, XP_047297232.1:p.Ala13Thr, XP_047297233.1:p.Ala13Thr, XP_047297236.1:p.Ala13Thr, XP_047297239.1:p.Ala13Thr

                                      19.

                                      rs1477976359 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:49777144 (GRCh38)
                                        22:50170792 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:49777143:C:T
                                        Gene:
                                        BRD1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.49777144C>T, NC_000022.10:g.50170792C>T, NM_001304808.3:c.3011G>A, NM_001304808.2:c.3011G>A, NM_001304808.1:c.3011G>A, XM_017028722.3:c.3173G>A, XM_017028722.2:c.1850G>A, XM_017028722.1:c.1850G>A, NR_146335.2:n.3717G>A, NR_146335.1:n.3340G>A, XM_017028716.2:c.3011G>A, XM_017028716.1:c.3011G>A, NM_001349942.2:c.1469G>A, NM_001349942.1:c.1469G>A, NM_001349941.2:c.2996G>A, NM_001349941.1:c.2996G>A, NR_146334.2:n.3320G>A, NR_146334.1:n.2943G>A, NM_001349940.2:c.2765G>A, NM_001349940.1:c.2765G>A, XM_017028718.2:c.2513G>A, XM_017028718.1:c.2513G>A, XM_047441278.1:c.2897G>A, NM_001394552.1:c.2618G>A, XM_047441274.1:c.3011G>A, NM_001394548.1:c.3005G>A, NM_001394549.1:c.2990G>A, XM_047441281.1:c.3173G>A, XM_047441271.1:c.3167G>A, NM_014577.1:c.2618G>A, NM_001394551.1:c.2618G>A, NM_001304809.1:c.2618G>A, XM_047441272.1:c.2780G>A, XM_047441273.1:c.2774G>A, XM_047441275.1:c.2675G>A, XM_047441276.1:c.2669G>A, XM_047441277.1:c.2612G>A, XR_007067961.1:n.3105G>A, NM_001394550.1:c.1076G>A, NP_001291737.1:p.Cys1004Tyr, XP_016884211.2:p.Cys1058Tyr, XP_016884205.1:p.Cys1004Tyr, NP_001336871.1:p.Cys490Tyr, NP_001336870.1:p.Cys999Tyr, NP_001336869.1:p.Cys922Tyr, XP_016884207.1:p.Cys838Tyr, XP_047297234.1:p.Cys966Tyr, NP_001381481.1:p.Cys873Tyr, XP_047297230.1:p.Cys1004Tyr, NP_001381477.1:p.Cys1002Tyr, NP_001381478.1:p.Cys997Tyr, XP_047297237.1:p.Cys1058Tyr, XP_047297227.1:p.Cys1056Tyr, NP_001381480.1:p.Cys873Tyr, NP_001291738.1:p.Cys873Tyr, XP_047297228.1:p.Cys927Tyr, XP_047297229.1:p.Cys925Tyr, XP_047297231.1:p.Cys892Tyr, XP_047297232.1:p.Cys890Tyr, XP_047297233.1:p.Cys871Tyr, NP_001381479.1:p.Cys359Tyr

                                        20.

                                        rs1477876963 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:49787618 (GRCh38)
                                          22:50181266 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:49787617:C:T
                                          Gene:
                                          BRD1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000111/1 (ALFA)
                                          T=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000022.11:g.49787618C>T, NC_000022.10:g.50181266C>T, NM_001304808.3:c.2629G>A, NM_001304808.2:c.2629G>A, NM_001304808.1:c.2629G>A, XM_017028722.3:c.2791G>A, XM_017028722.2:c.1468G>A, XM_017028722.1:c.1468G>A, NR_146335.2:n.3335G>A, NR_146335.1:n.2958G>A, XM_017028716.2:c.2629G>A, XM_017028716.1:c.2629G>A, NM_001349942.2:c.1087G>A, NM_001349942.1:c.1087G>A, NM_001349941.2:c.2614G>A, NM_001349941.1:c.2614G>A, NR_146334.2:n.3020G>A, NR_146334.1:n.2643G>A, XM_047441279.1:c.2791G>A, XR_007067963.1:n.2805G>A, XM_047441282.1:c.2791G>A, XR_007067964.1:n.2805G>A, XM_047441274.1:c.2629G>A, NM_001394548.1:c.2623G>A, NM_001394549.1:c.2608G>A, XM_047441281.1:c.2791G>A, XM_047441271.1:c.2785G>A, XR_007067961.1:n.2805G>A, XR_007067962.1:n.2805G>A, XM_047441280.1:c.2791G>A, NP_001291737.1:p.Val877Ile, XP_016884211.2:p.Val931Ile, XP_016884205.1:p.Val877Ile, NP_001336871.1:p.Val363Ile, NP_001336870.1:p.Val872Ile, XP_047297235.1:p.Val931Ile, XP_047297238.1:p.Val931Ile, XP_047297230.1:p.Val877Ile, NP_001381477.1:p.Val875Ile, NP_001381478.1:p.Val870Ile, XP_047297237.1:p.Val931Ile, XP_047297227.1:p.Val929Ile, XP_047297236.1:p.Val931Ile

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