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Links from Protein

Items: 1 to 20 of 2510

1.

rs1489492915 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    5:71516098 (GRCh38)
    5:70811926 (GRCh37)
    Canonical SPDI:
    NC_000005.10:71516098:AAA:AAAA
    Gene:
    BDP1 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    AAAA=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000005.10:g.71516101dup, NC_000005.9:g.70811928dup, NG_047017.1:g.65719dup, NM_018429.3:c.4690dup, NM_018429.2:c.4690dup, NW_003315917.2:g.1514586dup, NT_187651.1:g.1046076dup, NW_025791777.1:g.2003243dup, XM_011543511.4:c.4690dup, XM_011543511.3:c.4690dup, XM_011543511.2:c.4690dup, XM_011543511.1:c.4690dup, XM_011543512.3:c.4690dup, XM_011543512.2:c.4690dup, XM_011543512.1:c.4690dup, XM_017009630.2:c.4690dup, XM_017009630.1:c.4690dup, XM_017009631.2:c.4690dup, XM_017009631.1:c.4690dup, XM_047417373.1:c.4690dup, XM_047417372.1:c.4690dup, XM_047417374.1:c.4690dup, XM_047417375.1:c.4690dup, XM_047443312.1:c.4690dup, XM_047443307.1:c.4690dup, XM_047443311.1:c.4690dup, XM_047443313.1:c.4690dup, XM_047443308.1:c.4690dup, XM_047443310.1:c.4690dup, XM_047443309.1:c.4690dup, XM_047443314.1:c.4690dup, XM_047443315.1:c.4690dup, NP_060899.2:p.Ser1564fs, XP_011541813.1:p.Ser1564fs, XP_011541814.1:p.Ser1564fs, XP_016865119.1:p.Ser1564fs, XP_016865120.1:p.Ser1564fs, XP_047273329.1:p.Ser1564fs, XP_047273328.1:p.Ser1564fs, XP_047273330.1:p.Ser1564fs, XP_047273331.1:p.Ser1564fs

    2.

    rs1489096969 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:71514956 (GRCh38)
      5:70810783 (GRCh37)
      Canonical SPDI:
      NC_000005.10:71514955:C:T
      Gene:
      BDP1 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      HGVS:
      NC_000005.10:g.71514956C>T, NC_000005.9:g.70810783C>T, NG_047017.1:g.64574C>T, NM_018429.3:c.4483C>T, NM_018429.2:c.4483C>T, NW_003315917.2:g.1513441C>T, NT_187651.1:g.1044931C>T, NW_025791777.1:g.2002098C>T, XM_011543511.4:c.4483C>T, XM_011543511.3:c.4483C>T, XM_011543511.2:c.4483C>T, XM_011543511.1:c.4483C>T, XM_011543512.3:c.4483C>T, XM_011543512.2:c.4483C>T, XM_011543512.1:c.4483C>T, XM_017009630.2:c.4483C>T, XM_017009630.1:c.4483C>T, XM_017009631.2:c.4483C>T, XM_017009631.1:c.4483C>T, XM_047417373.1:c.4483C>T, XM_047417372.1:c.4483C>T, XM_047417374.1:c.4483C>T, XM_047417375.1:c.4483C>T, XM_047443312.1:c.4483C>T, XM_047443307.1:c.4483C>T, XM_047443311.1:c.4483C>T, XM_047443313.1:c.4483C>T, XM_047443308.1:c.4483C>T, XM_047443310.1:c.4483C>T, XM_047443309.1:c.4483C>T, XM_047443314.1:c.4483C>T, XM_047443315.1:c.4483C>T

      3.

      rs1488890041 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:71509666 (GRCh38)
        5:70805493 (GRCh37)
        Canonical SPDI:
        NC_000005.10:71509665:G:A
        Gene:
        BDP1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000005.10:g.71509666G>A, NC_000005.9:g.70805493G>A, NG_047017.1:g.59284G>A, NM_018429.3:c.2574G>A, NM_018429.2:c.2574G>A, NW_003315917.2:g.1508151G>A, NT_187651.1:g.1039641G>A, NW_025791777.1:g.1996808G>A, XM_011543511.4:c.2574G>A, XM_011543511.3:c.2574G>A, XM_011543511.2:c.2574G>A, XM_011543511.1:c.2574G>A, XM_011543512.3:c.2574G>A, XM_011543512.2:c.2574G>A, XM_011543512.1:c.2574G>A, XM_017009630.2:c.2574G>A, XM_017009630.1:c.2574G>A, XM_017009631.2:c.2574G>A, XM_017009631.1:c.2574G>A, XM_047417373.1:c.2574G>A, XM_047417372.1:c.2574G>A, XM_047417374.1:c.2574G>A, XM_047417375.1:c.2574G>A, XM_047443312.1:c.2574G>A, XM_047443307.1:c.2574G>A, XM_047443311.1:c.2574G>A, XM_047443313.1:c.2574G>A, XM_047443308.1:c.2574G>A, XM_047443310.1:c.2574G>A, XM_047443309.1:c.2574G>A, XM_047443314.1:c.2574G>A, XM_047443315.1:c.2574G>A

        4.

        rs1488707538 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          5:71524211 (GRCh38)
          5:70820038 (GRCh37)
          Canonical SPDI:
          NC_000005.10:71524210:A:T
          Gene:
          BDP1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000005.10:g.71524211A>T, NC_000005.9:g.70820038A>T, NG_047017.1:g.73829A>T, NM_018429.3:c.5660A>T, NM_018429.2:c.5660A>T, NW_003315917.2:g.1522696A>T, NT_187651.1:g.1054186A>T, NW_025791777.1:g.2011353A>T, XM_011543511.4:c.5660A>T, XM_011543511.3:c.5660A>T, XM_011543511.2:c.5660A>T, XM_011543511.1:c.5660A>T, XM_011543512.3:c.5660A>T, XM_011543512.2:c.5660A>T, XM_011543512.1:c.5660A>T, XM_017009630.2:c.5660A>T, XM_017009630.1:c.5660A>T, XM_017009631.2:c.5660A>T, XM_017009631.1:c.5660A>T, XM_047417373.1:c.5660A>T, XM_047417372.1:c.5660A>T, XM_047417374.1:c.5660A>T, XM_047417375.1:c.5660A>T, XM_047443312.1:c.5660A>T, XM_047443307.1:c.5660A>T, XM_047443311.1:c.5660A>T, XM_047443313.1:c.5660A>T, XM_047443308.1:c.5660A>T, XM_047443310.1:c.5660A>T, XM_047443309.1:c.5660A>T, XM_047443314.1:c.5660A>T, XM_047443315.1:c.5660A>T, NP_060899.2:p.Glu1887Val, XP_011541813.1:p.Glu1887Val, XP_011541814.1:p.Glu1887Val, XP_016865119.1:p.Glu1887Val, XP_016865120.1:p.Glu1887Val, XP_047273329.1:p.Glu1887Val, XP_047273328.1:p.Glu1887Val, XP_047273330.1:p.Glu1887Val, XP_047273331.1:p.Glu1887Val

          5.

          rs1488245760 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CAAAGA [Show Flanks]
            Chromosome:
            5:71510196 (GRCh38)
            5:70806024 (GRCh37)
            Canonical SPDI:
            NC_000005.10:71510196:AGA:AGACAAAGA
            Gene:
            BDP1 (Varview)
            Functional Consequence:
            inframe_insertion,coding_sequence_variant
            HGVS:
            NC_000005.10:g.71510199_71510200insCAAAGA, NC_000005.9:g.70806026_70806027insCAAAGA, NG_047017.1:g.59817_59818insCAAAGA, NM_018429.3:c.3107_3108insCAAAGA, NM_018429.2:c.3107_3108insCAAAGA, NW_003315917.2:g.1508684_1508685insCAAAGA, NT_187651.1:g.1040174_1040175insCAAAGA, NW_025791777.1:g.1997341_1997342insCAAAGA, XM_011543511.4:c.3107_3108insCAAAGA, XM_011543511.3:c.3107_3108insCAAAGA, XM_011543511.2:c.3107_3108insCAAAGA, XM_011543511.1:c.3107_3108insCAAAGA, XM_011543512.3:c.3107_3108insCAAAGA, XM_011543512.2:c.3107_3108insCAAAGA, XM_011543512.1:c.3107_3108insCAAAGA, XM_017009630.2:c.3107_3108insCAAAGA, XM_017009630.1:c.3107_3108insCAAAGA, XM_017009631.2:c.3107_3108insCAAAGA, XM_017009631.1:c.3107_3108insCAAAGA, XM_047417373.1:c.3107_3108insCAAAGA, XM_047417372.1:c.3107_3108insCAAAGA, XM_047417374.1:c.3107_3108insCAAAGA, XM_047417375.1:c.3107_3108insCAAAGA, XM_047443312.1:c.3107_3108insCAAAGA, XM_047443307.1:c.3107_3108insCAAAGA, XM_047443311.1:c.3107_3108insCAAAGA, XM_047443313.1:c.3107_3108insCAAAGA, XM_047443308.1:c.3107_3108insCAAAGA, XM_047443310.1:c.3107_3108insCAAAGA, XM_047443309.1:c.3107_3108insCAAAGA, XM_047443314.1:c.3107_3108insCAAAGA, XM_047443315.1:c.3107_3108insCAAAGA, NP_060899.2:p.Leu1037_Glu1038insLysAsp, XP_011541813.1:p.Leu1037_Glu1038insLysAsp, XP_011541814.1:p.Leu1037_Glu1038insLysAsp, XP_016865119.1:p.Leu1037_Glu1038insLysAsp, XP_016865120.1:p.Leu1037_Glu1038insLysAsp, XP_047273329.1:p.Leu1037_Glu1038insLysAsp, XP_047273328.1:p.Leu1037_Glu1038insLysAsp, XP_047273330.1:p.Leu1037_Glu1038insLysAsp, XP_047273331.1:p.Leu1037_Glu1038insLysAsp

            6.

            rs1487722892 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:71553269 (GRCh38)
              5:70849096 (GRCh37)
              Canonical SPDI:
              NC_000005.10:71553268:C:T
              Gene:
              BDP1 (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000005.10:g.71553269C>T, NC_000005.9:g.70849096C>T, NG_047017.1:g.102887C>T, NM_018429.3:c.7149C>T, NM_018429.2:c.7149C>T, NW_003315917.2:g.1551754C>T, NT_187651.1:g.1083244C>T, NW_025791777.1:g.2040411C>T, XM_011543511.4:c.7143C>T, XM_011543511.3:c.7143C>T, XM_011543511.2:c.7143C>T, XM_011543511.1:c.7143C>T, XM_011543512.3:c.6630C>T, XM_011543512.2:c.6630C>T, XM_011543512.1:c.6630C>T, XM_017009630.2:c.7149C>T, XM_017009630.1:c.7149C>T, XM_017009631.2:c.7149C>T, XM_017009631.1:c.7149C>T, XM_047417373.1:c.7149C>T, XM_047417372.1:c.7149C>T, XM_047417374.1:c.6962C>T, XM_047443312.1:c.7149C>T, XM_047443307.1:c.7149C>T, XM_047443311.1:c.7143C>T, XM_047443313.1:c.6630C>T, XM_047443308.1:c.7149C>T, XM_047443310.1:c.7149C>T, XM_047443309.1:c.7149C>T, XM_047443314.1:c.6962C>T, XP_047273330.1:p.Pro2321Leu

              7.

              rs1487366505 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                5:71502772 (GRCh38)
                5:70798599 (GRCh37)
                Canonical SPDI:
                NC_000005.10:71502771:A:G
                Gene:
                BDP1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                NC_000005.10:g.71502772A>G, NC_000005.9:g.70798599A>G, NG_047017.1:g.52390A>G, NM_018429.3:c.2222A>G, NM_018429.2:c.2222A>G, NW_003315917.2:g.1501257A>G, NT_187651.1:g.1032747A>G, NW_025791777.1:g.1989914A>G, XM_011543511.4:c.2222A>G, XM_011543511.3:c.2222A>G, XM_011543511.2:c.2222A>G, XM_011543511.1:c.2222A>G, XM_011543512.3:c.2222A>G, XM_011543512.2:c.2222A>G, XM_011543512.1:c.2222A>G, XM_017009630.2:c.2222A>G, XM_017009630.1:c.2222A>G, XM_017009631.2:c.2222A>G, XM_017009631.1:c.2222A>G, XM_047417373.1:c.2222A>G, XM_047417372.1:c.2222A>G, XM_047417374.1:c.2222A>G, XM_047417375.1:c.2222A>G, XM_047443312.1:c.2222A>G, XM_047443307.1:c.2222A>G, XM_047443311.1:c.2222A>G, XM_047443313.1:c.2222A>G, XM_047443308.1:c.2222A>G, XM_047443310.1:c.2222A>G, XM_047443309.1:c.2222A>G, XM_047443314.1:c.2222A>G, XM_047443315.1:c.2222A>G, NP_060899.2:p.Glu741Gly, XP_011541813.1:p.Glu741Gly, XP_011541814.1:p.Glu741Gly, XP_016865119.1:p.Glu741Gly, XP_016865120.1:p.Glu741Gly, XP_047273329.1:p.Glu741Gly, XP_047273328.1:p.Glu741Gly, XP_047273330.1:p.Glu741Gly, XP_047273331.1:p.Glu741Gly

                8.

                rs1487122673 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G,T [Show Flanks]
                  Chromosome:
                  5:71470478 (GRCh38)
                  5:70766305 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:71470477:A:C,NC_000005.10:71470477:A:G,NC_000005.10:71470477:A:T
                  Gene:
                  BDP1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000005.10:g.71470478A>C, NC_000005.10:g.71470478A>G, NC_000005.10:g.71470478A>T, NC_000005.9:g.70766305A>C, NC_000005.9:g.70766305A>G, NC_000005.9:g.70766305A>T, NG_047017.1:g.20096A>C, NG_047017.1:g.20096A>G, NG_047017.1:g.20096A>T, NM_018429.3:c.1003A>C, NM_018429.3:c.1003A>G, NM_018429.3:c.1003A>T, NM_018429.2:c.1003A>C, NM_018429.2:c.1003A>G, NM_018429.2:c.1003A>T, NW_003315917.2:g.1468963A>C, NW_003315917.2:g.1468963A>G, NW_003315917.2:g.1468963A>T, NT_187651.1:g.1000464A>C, NT_187651.1:g.1000464A>G, NT_187651.1:g.1000464A>T, NW_025791777.1:g.1957631A>C, NW_025791777.1:g.1957631A>G, NW_025791777.1:g.1957631A>T, XM_011543511.4:c.1003A>C, XM_011543511.4:c.1003A>G, XM_011543511.4:c.1003A>T, XM_011543511.3:c.1003A>C, XM_011543511.3:c.1003A>G, XM_011543511.3:c.1003A>T, XM_011543511.2:c.1003A>C, XM_011543511.2:c.1003A>G, XM_011543511.2:c.1003A>T, XM_011543511.1:c.1003A>C, XM_011543511.1:c.1003A>G, XM_011543511.1:c.1003A>T, XM_011543512.3:c.1003A>C, XM_011543512.3:c.1003A>G, XM_011543512.3:c.1003A>T, XM_011543512.2:c.1003A>C, XM_011543512.2:c.1003A>G, XM_011543512.2:c.1003A>T, XM_011543512.1:c.1003A>C, XM_011543512.1:c.1003A>G, XM_011543512.1:c.1003A>T, XM_017009630.2:c.1003A>C, XM_017009630.2:c.1003A>G, XM_017009630.2:c.1003A>T, XM_017009630.1:c.1003A>C, XM_017009630.1:c.1003A>G, XM_017009630.1:c.1003A>T, XM_017009631.2:c.1003A>C, XM_017009631.2:c.1003A>G, XM_017009631.2:c.1003A>T, XM_017009631.1:c.1003A>C, XM_017009631.1:c.1003A>G, XM_017009631.1:c.1003A>T, XM_047417373.1:c.1003A>C, XM_047417373.1:c.1003A>G, XM_047417373.1:c.1003A>T, XM_047417372.1:c.1003A>C, XM_047417372.1:c.1003A>G, XM_047417372.1:c.1003A>T, XM_047417374.1:c.1003A>C, XM_047417374.1:c.1003A>G, XM_047417374.1:c.1003A>T, XM_047417375.1:c.1003A>C, XM_047417375.1:c.1003A>G, XM_047417375.1:c.1003A>T, XM_047443312.1:c.1003A>C, XM_047443312.1:c.1003A>G, XM_047443312.1:c.1003A>T, XM_047443307.1:c.1003A>C, XM_047443307.1:c.1003A>G, XM_047443307.1:c.1003A>T, XM_047443311.1:c.1003A>C, XM_047443311.1:c.1003A>G, XM_047443311.1:c.1003A>T, XM_047443313.1:c.1003A>C, XM_047443313.1:c.1003A>G, XM_047443313.1:c.1003A>T, XM_047443308.1:c.1003A>C, XM_047443308.1:c.1003A>G, XM_047443308.1:c.1003A>T, XM_047443310.1:c.1003A>C, XM_047443310.1:c.1003A>G, XM_047443310.1:c.1003A>T, XM_047443309.1:c.1003A>C, XM_047443309.1:c.1003A>G, XM_047443309.1:c.1003A>T, XM_047443314.1:c.1003A>C, XM_047443314.1:c.1003A>G, XM_047443314.1:c.1003A>T, XM_047443315.1:c.1003A>C, XM_047443315.1:c.1003A>G, XM_047443315.1:c.1003A>T, NP_060899.2:p.Ile335Leu, NP_060899.2:p.Ile335Val, NP_060899.2:p.Ile335Leu, XP_011541813.1:p.Ile335Leu, XP_011541813.1:p.Ile335Val, XP_011541813.1:p.Ile335Leu, XP_011541814.1:p.Ile335Leu, XP_011541814.1:p.Ile335Val, XP_011541814.1:p.Ile335Leu, XP_016865119.1:p.Ile335Leu, XP_016865119.1:p.Ile335Val, XP_016865119.1:p.Ile335Leu, XP_016865120.1:p.Ile335Leu, XP_016865120.1:p.Ile335Val, XP_016865120.1:p.Ile335Leu, XP_047273329.1:p.Ile335Leu, XP_047273329.1:p.Ile335Val, XP_047273329.1:p.Ile335Leu, XP_047273328.1:p.Ile335Leu, XP_047273328.1:p.Ile335Val, XP_047273328.1:p.Ile335Leu, XP_047273330.1:p.Ile335Leu, XP_047273330.1:p.Ile335Val, XP_047273330.1:p.Ile335Leu, XP_047273331.1:p.Ile335Leu, XP_047273331.1:p.Ile335Val, XP_047273331.1:p.Ile335Leu

                  9.

                  rs1487005279 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    5:71510038 (GRCh38)
                    5:70805865 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:71510037:A:C
                    Gene:
                    BDP1 (Varview)
                    Functional Consequence:
                    missense_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)
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000005.10:g.71510038A>C, NC_000005.9:g.70805865A>C, NG_047017.1:g.59656A>C, NM_018429.3:c.2946A>C, NM_018429.2:c.2946A>C, NW_003315917.2:g.1508523A>C, NT_187651.1:g.1040013A>C, NW_025791777.1:g.1997180A>C, XM_011543511.4:c.2946A>C, XM_011543511.3:c.2946A>C, XM_011543511.2:c.2946A>C, XM_011543511.1:c.2946A>C, XM_011543512.3:c.2946A>C, XM_011543512.2:c.2946A>C, XM_011543512.1:c.2946A>C, XM_017009630.2:c.2946A>C, XM_017009630.1:c.2946A>C, XM_017009631.2:c.2946A>C, XM_017009631.1:c.2946A>C, XM_047417373.1:c.2946A>C, XM_047417372.1:c.2946A>C, XM_047417374.1:c.2946A>C, XM_047417375.1:c.2946A>C, XM_047443312.1:c.2946A>C, XM_047443307.1:c.2946A>C, XM_047443311.1:c.2946A>C, XM_047443313.1:c.2946A>C, XM_047443308.1:c.2946A>C, XM_047443310.1:c.2946A>C, XM_047443309.1:c.2946A>C, XM_047443314.1:c.2946A>C, XM_047443315.1:c.2946A>C, NP_060899.2:p.Lys982Asn, XP_011541813.1:p.Lys982Asn, XP_011541814.1:p.Lys982Asn, XP_016865119.1:p.Lys982Asn, XP_016865120.1:p.Lys982Asn, XP_047273329.1:p.Lys982Asn, XP_047273328.1:p.Lys982Asn, XP_047273330.1:p.Lys982Asn, XP_047273331.1:p.Lys982Asn

                    10.

                    rs1486766211 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:71489412 (GRCh38)
                      5:70785239 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:71489411:G:A
                      Gene:
                      BDP1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.71489412G>A, NC_000005.9:g.70785239G>A, NG_047017.1:g.39030G>A, NM_018429.3:c.1222G>A, NM_018429.2:c.1222G>A, NW_003315917.2:g.1487897G>A, NT_187651.1:g.1019382G>A, NW_025791777.1:g.1976549G>A, XM_011543511.4:c.1222G>A, XM_011543511.3:c.1222G>A, XM_011543511.2:c.1222G>A, XM_011543511.1:c.1222G>A, XM_011543512.3:c.1222G>A, XM_011543512.2:c.1222G>A, XM_011543512.1:c.1222G>A, XM_017009630.2:c.1222G>A, XM_017009630.1:c.1222G>A, XM_017009631.2:c.1222G>A, XM_017009631.1:c.1222G>A, XM_047417373.1:c.1222G>A, XM_047417372.1:c.1222G>A, XM_047417374.1:c.1222G>A, XM_047417375.1:c.1222G>A, XM_047443312.1:c.1222G>A, XM_047443307.1:c.1222G>A, XM_047443311.1:c.1222G>A, XM_047443313.1:c.1222G>A, XM_047443308.1:c.1222G>A, XM_047443310.1:c.1222G>A, XM_047443309.1:c.1222G>A, XM_047443314.1:c.1222G>A, XM_047443315.1:c.1222G>A, NP_060899.2:p.Val408Ile, XP_011541813.1:p.Val408Ile, XP_011541814.1:p.Val408Ile, XP_016865119.1:p.Val408Ile, XP_016865120.1:p.Val408Ile, XP_047273329.1:p.Val408Ile, XP_047273328.1:p.Val408Ile, XP_047273330.1:p.Val408Ile, XP_047273331.1:p.Val408Ile

                      11.

                      rs1486348345 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        5:71509518 (GRCh38)
                        5:70805345 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:71509517:C:G
                        Gene:
                        BDP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000005.10:g.71509518C>G, NC_000005.9:g.70805345C>G, NG_047017.1:g.59136C>G, NM_018429.3:c.2426C>G, NM_018429.2:c.2426C>G, NW_003315917.2:g.1508003C>G, NT_187651.1:g.1039493C>G, NW_025791777.1:g.1996660C>G, XM_011543511.4:c.2426C>G, XM_011543511.3:c.2426C>G, XM_011543511.2:c.2426C>G, XM_011543511.1:c.2426C>G, XM_011543512.3:c.2426C>G, XM_011543512.2:c.2426C>G, XM_011543512.1:c.2426C>G, XM_017009630.2:c.2426C>G, XM_017009630.1:c.2426C>G, XM_017009631.2:c.2426C>G, XM_017009631.1:c.2426C>G, XM_047417373.1:c.2426C>G, XM_047417372.1:c.2426C>G, XM_047417374.1:c.2426C>G, XM_047417375.1:c.2426C>G, XM_047443312.1:c.2426C>G, XM_047443307.1:c.2426C>G, XM_047443311.1:c.2426C>G, XM_047443313.1:c.2426C>G, XM_047443308.1:c.2426C>G, XM_047443310.1:c.2426C>G, XM_047443309.1:c.2426C>G, XM_047443314.1:c.2426C>G, XM_047443315.1:c.2426C>G, NP_060899.2:p.Thr809Ser, XP_011541813.1:p.Thr809Ser, XP_011541814.1:p.Thr809Ser, XP_016865119.1:p.Thr809Ser, XP_016865120.1:p.Thr809Ser, XP_047273329.1:p.Thr809Ser, XP_047273328.1:p.Thr809Ser, XP_047273330.1:p.Thr809Ser, XP_047273331.1:p.Thr809Ser

                        12.

                        rs1486236484 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:71510730 (GRCh38)
                          5:70806557 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:71510729:G:A
                          Gene:
                          BDP1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000005.10:g.71510730G>A, NC_000005.9:g.70806557G>A, NG_047017.1:g.60348G>A, NM_018429.3:c.3638G>A, NM_018429.2:c.3638G>A, NW_003315917.2:g.1509215G>A, NT_187651.1:g.1040705G>A, NW_025791777.1:g.1997872G>A, XM_011543511.4:c.3638G>A, XM_011543511.3:c.3638G>A, XM_011543511.2:c.3638G>A, XM_011543511.1:c.3638G>A, XM_011543512.3:c.3638G>A, XM_011543512.2:c.3638G>A, XM_011543512.1:c.3638G>A, XM_017009630.2:c.3638G>A, XM_017009630.1:c.3638G>A, XM_017009631.2:c.3638G>A, XM_017009631.1:c.3638G>A, XM_047417373.1:c.3638G>A, XM_047417372.1:c.3638G>A, XM_047417374.1:c.3638G>A, XM_047417375.1:c.3638G>A, XM_047443312.1:c.3638G>A, XM_047443307.1:c.3638G>A, XM_047443311.1:c.3638G>A, XM_047443313.1:c.3638G>A, XM_047443308.1:c.3638G>A, XM_047443310.1:c.3638G>A, XM_047443309.1:c.3638G>A, XM_047443314.1:c.3638G>A, XM_047443315.1:c.3638G>A, NP_060899.2:p.Gly1213Asp, XP_011541813.1:p.Gly1213Asp, XP_011541814.1:p.Gly1213Asp, XP_016865119.1:p.Gly1213Asp, XP_016865120.1:p.Gly1213Asp, XP_047273329.1:p.Gly1213Asp, XP_047273328.1:p.Gly1213Asp, XP_047273330.1:p.Gly1213Asp, XP_047273331.1:p.Gly1213Asp

                          13.

                          rs1485815842 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            5:71501607 (GRCh38)
                            5:70797434 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:71501606:A:C
                            Gene:
                            BDP1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000008/2 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000005.10:g.71501607A>C, NC_000005.9:g.70797434A>C, NG_047017.1:g.51225A>C, NM_018429.3:c.2002A>C, NM_018429.2:c.2002A>C, NW_003315917.2:g.1500092A>C, NT_187651.1:g.1031582A>C, NW_025791777.1:g.1988749A>C, XM_011543511.4:c.2002A>C, XM_011543511.3:c.2002A>C, XM_011543511.2:c.2002A>C, XM_011543511.1:c.2002A>C, XM_011543512.3:c.2002A>C, XM_011543512.2:c.2002A>C, XM_011543512.1:c.2002A>C, XM_017009630.2:c.2002A>C, XM_017009630.1:c.2002A>C, XM_017009631.2:c.2002A>C, XM_017009631.1:c.2002A>C, XM_047417373.1:c.2002A>C, XM_047417372.1:c.2002A>C, XM_047417374.1:c.2002A>C, XM_047417375.1:c.2002A>C, XM_047443312.1:c.2002A>C, XM_047443307.1:c.2002A>C, XM_047443311.1:c.2002A>C, XM_047443313.1:c.2002A>C, XM_047443308.1:c.2002A>C, XM_047443310.1:c.2002A>C, XM_047443309.1:c.2002A>C, XM_047443314.1:c.2002A>C, XM_047443315.1:c.2002A>C, NP_060899.2:p.Met668Leu, XP_011541813.1:p.Met668Leu, XP_011541814.1:p.Met668Leu, XP_016865119.1:p.Met668Leu, XP_016865120.1:p.Met668Leu, XP_047273329.1:p.Met668Leu, XP_047273328.1:p.Met668Leu, XP_047273330.1:p.Met668Leu, XP_047273331.1:p.Met668Leu

                            14.

                            rs1484922382 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:71515032 (GRCh38)
                              5:70810859 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:71515031:A:G
                              Gene:
                              BDP1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000005.10:g.71515032A>G, NC_000005.9:g.70810859A>G, NG_047017.1:g.64650A>G, NM_018429.3:c.4559A>G, NM_018429.2:c.4559A>G, NW_003315917.2:g.1513517A>G, NT_187651.1:g.1045007A>G, NW_025791777.1:g.2002174A>G, XM_011543511.4:c.4559A>G, XM_011543511.3:c.4559A>G, XM_011543511.2:c.4559A>G, XM_011543511.1:c.4559A>G, XM_011543512.3:c.4559A>G, XM_011543512.2:c.4559A>G, XM_011543512.1:c.4559A>G, XM_017009630.2:c.4559A>G, XM_017009630.1:c.4559A>G, XM_017009631.2:c.4559A>G, XM_017009631.1:c.4559A>G, XM_047417373.1:c.4559A>G, XM_047417372.1:c.4559A>G, XM_047417374.1:c.4559A>G, XM_047417375.1:c.4559A>G, XM_047443312.1:c.4559A>G, XM_047443307.1:c.4559A>G, XM_047443311.1:c.4559A>G, XM_047443313.1:c.4559A>G, XM_047443308.1:c.4559A>G, XM_047443310.1:c.4559A>G, XM_047443309.1:c.4559A>G, XM_047443314.1:c.4559A>G, XM_047443315.1:c.4559A>G, NP_060899.2:p.Glu1520Gly, XP_011541813.1:p.Glu1520Gly, XP_011541814.1:p.Glu1520Gly, XP_016865119.1:p.Glu1520Gly, XP_016865120.1:p.Glu1520Gly, XP_047273329.1:p.Glu1520Gly, XP_047273328.1:p.Glu1520Gly, XP_047273330.1:p.Glu1520Gly, XP_047273331.1:p.Glu1520Gly

                              15.

                              rs1484786133 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                5:71495391 (GRCh38)
                                5:70791218 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:71495390:C:A
                                Gene:
                                BDP1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000005.10:g.71495391C>A, NC_000005.9:g.70791218C>A, NG_047017.1:g.45009C>A, NM_018429.3:c.1782C>A, NM_018429.2:c.1782C>A, NW_003315917.2:g.1493876C>A, NT_187651.1:g.1025363C>A, NW_025791777.1:g.1982530C>A, XM_011543511.4:c.1782C>A, XM_011543511.3:c.1782C>A, XM_011543511.2:c.1782C>A, XM_011543511.1:c.1782C>A, XM_011543512.3:c.1782C>A, XM_011543512.2:c.1782C>A, XM_011543512.1:c.1782C>A, XM_017009630.2:c.1782C>A, XM_017009630.1:c.1782C>A, XM_017009631.2:c.1782C>A, XM_017009631.1:c.1782C>A, XM_047417373.1:c.1782C>A, XM_047417372.1:c.1782C>A, XM_047417374.1:c.1782C>A, XM_047417375.1:c.1782C>A, XM_047443312.1:c.1782C>A, XM_047443307.1:c.1782C>A, XM_047443311.1:c.1782C>A, XM_047443313.1:c.1782C>A, XM_047443308.1:c.1782C>A, XM_047443310.1:c.1782C>A, XM_047443309.1:c.1782C>A, XM_047443314.1:c.1782C>A, XM_047443315.1:c.1782C>A, NP_060899.2:p.Asp594Glu, XP_011541813.1:p.Asp594Glu, XP_011541814.1:p.Asp594Glu, XP_016865119.1:p.Asp594Glu, XP_016865120.1:p.Asp594Glu, XP_047273329.1:p.Asp594Glu, XP_047273328.1:p.Asp594Glu, XP_047273330.1:p.Asp594Glu, XP_047273331.1:p.Asp594Glu

                                16.

                                rs1484572310 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:71545089 (GRCh38)
                                  5:70840916 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:71545088:C:T
                                  Gene:
                                  BDP1 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000005.10:g.71545089C>T, NC_000005.9:g.70840916C>T, NG_047017.1:g.94707C>T, NM_018429.3:c.6614C>T, NM_018429.2:c.6614C>T, NW_003315917.2:g.1543574C>T, NT_187651.1:g.1075064C>T, NW_025791777.1:g.2032231C>T, XM_011543511.4:c.6608C>T, XM_011543511.3:c.6608C>T, XM_011543511.2:c.6608C>T, XM_011543511.1:c.6608C>T, XM_017009630.2:c.6614C>T, XM_017009630.1:c.6614C>T, XM_017009631.2:c.6614C>T, XM_017009631.1:c.6614C>T, XM_047417373.1:c.6614C>T, XM_047417372.1:c.6614C>T, XM_047417374.1:c.6614C>T, XM_047443312.1:c.6614C>T, XM_047443307.1:c.6614C>T, XM_047443311.1:c.6608C>T, XM_047443308.1:c.6614C>T, XM_047443310.1:c.6614C>T, XM_047443309.1:c.6614C>T, XM_047443314.1:c.6614C>T, NP_060899.2:p.Ala2205Val, XP_011541813.1:p.Ala2203Val, XP_016865119.1:p.Ala2205Val, XP_016865120.1:p.Ala2205Val, XP_047273329.1:p.Ala2205Val, XP_047273328.1:p.Ala2205Val, XP_047273330.1:p.Ala2205Val

                                  17.

                                  rs1484485420 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    5:71502786 (GRCh38)
                                    5:70798613 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:71502785:A:G
                                    Gene:
                                    BDP1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000084/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000005.10:g.71502786A>G, NC_000005.9:g.70798613A>G, NG_047017.1:g.52404A>G, NM_018429.3:c.2236A>G, NM_018429.2:c.2236A>G, NW_003315917.2:g.1501271A>G, NT_187651.1:g.1032761A>G, NW_025791777.1:g.1989928A>G, XM_011543511.4:c.2236A>G, XM_011543511.3:c.2236A>G, XM_011543511.2:c.2236A>G, XM_011543511.1:c.2236A>G, XM_011543512.3:c.2236A>G, XM_011543512.2:c.2236A>G, XM_011543512.1:c.2236A>G, XM_017009630.2:c.2236A>G, XM_017009630.1:c.2236A>G, XM_017009631.2:c.2236A>G, XM_017009631.1:c.2236A>G, XM_047417373.1:c.2236A>G, XM_047417372.1:c.2236A>G, XM_047417374.1:c.2236A>G, XM_047417375.1:c.2236A>G, XM_047443312.1:c.2236A>G, XM_047443307.1:c.2236A>G, XM_047443311.1:c.2236A>G, XM_047443313.1:c.2236A>G, XM_047443308.1:c.2236A>G, XM_047443310.1:c.2236A>G, XM_047443309.1:c.2236A>G, XM_047443314.1:c.2236A>G, XM_047443315.1:c.2236A>G, NP_060899.2:p.Arg746Gly, XP_011541813.1:p.Arg746Gly, XP_011541814.1:p.Arg746Gly, XP_016865119.1:p.Arg746Gly, XP_016865120.1:p.Arg746Gly, XP_047273329.1:p.Arg746Gly, XP_047273328.1:p.Arg746Gly, XP_047273330.1:p.Arg746Gly, XP_047273331.1:p.Arg746Gly

                                    18.

                                    rs1484145040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:71541542 (GRCh38)
                                      5:70837369 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:71541541:T:C
                                      Gene:
                                      BDP1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.71541542T>C, NC_000005.9:g.70837369T>C, NG_047017.1:g.91160T>C, NM_018429.3:c.6111T>C, NM_018429.2:c.6111T>C, NW_003315917.2:g.1540027T>C, NT_187651.1:g.1071517T>C, NW_025791777.1:g.2028684T>C, XM_011543511.4:c.6111T>C, XM_011543511.3:c.6111T>C, XM_011543511.2:c.6111T>C, XM_011543511.1:c.6111T>C, XM_011543512.3:c.6111T>C, XM_011543512.2:c.6111T>C, XM_011543512.1:c.6111T>C, XM_017009630.2:c.6111T>C, XM_017009630.1:c.6111T>C, XM_017009631.2:c.6111T>C, XM_017009631.1:c.6111T>C, XM_047417373.1:c.6111T>C, XM_047417372.1:c.6111T>C, XM_047417374.1:c.6111T>C, XM_047417375.1:c.6111T>C, XM_047443312.1:c.6111T>C, XM_047443307.1:c.6111T>C, XM_047443311.1:c.6111T>C, XM_047443313.1:c.6111T>C, XM_047443308.1:c.6111T>C, XM_047443310.1:c.6111T>C, XM_047443309.1:c.6111T>C, XM_047443314.1:c.6111T>C, XM_047443315.1:c.6111T>C

                                      19.

                                      rs1483849282 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:71490996 (GRCh38)
                                        5:70786823 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:71490995:C:T
                                        Gene:
                                        BDP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000005.10:g.71490996C>T, NC_000005.9:g.70786823C>T, NG_047017.1:g.40614C>T, NM_018429.3:c.1505C>T, NM_018429.2:c.1505C>T, NW_003315917.2:g.1489481C>T, NT_187651.1:g.1020968C>T, NW_025791777.1:g.1978135C>T, XM_011543511.4:c.1505C>T, XM_011543511.3:c.1505C>T, XM_011543511.2:c.1505C>T, XM_011543511.1:c.1505C>T, XM_011543512.3:c.1505C>T, XM_011543512.2:c.1505C>T, XM_011543512.1:c.1505C>T, XM_017009630.2:c.1505C>T, XM_017009630.1:c.1505C>T, XM_017009631.2:c.1505C>T, XM_017009631.1:c.1505C>T, XM_047417373.1:c.1505C>T, XM_047417372.1:c.1505C>T, XM_047417374.1:c.1505C>T, XM_047417375.1:c.1505C>T, XM_047443312.1:c.1505C>T, XM_047443307.1:c.1505C>T, XM_047443311.1:c.1505C>T, XM_047443313.1:c.1505C>T, XM_047443308.1:c.1505C>T, XM_047443310.1:c.1505C>T, XM_047443309.1:c.1505C>T, XM_047443314.1:c.1505C>T, XM_047443315.1:c.1505C>T, NP_060899.2:p.Ala502Val, XP_011541813.1:p.Ala502Val, XP_011541814.1:p.Ala502Val, XP_016865119.1:p.Ala502Val, XP_016865120.1:p.Ala502Val, XP_047273329.1:p.Ala502Val, XP_047273328.1:p.Ala502Val, XP_047273330.1:p.Ala502Val, XP_047273331.1:p.Ala502Val

                                        20.

                                        rs1482136742 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:71517374 (GRCh38)
                                          5:70813201 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:71517373:A:G
                                          Gene:
                                          BDP1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000005.10:g.71517374A>G, NC_000005.9:g.70813201A>G, NG_047017.1:g.66992A>G, NM_018429.3:c.4913A>G, NM_018429.2:c.4913A>G, NW_003315917.2:g.1515859A>G, NT_187651.1:g.1047349A>G, NW_025791777.1:g.2004516A>G, XM_011543511.4:c.4913A>G, XM_011543511.3:c.4913A>G, XM_011543511.2:c.4913A>G, XM_011543511.1:c.4913A>G, XM_011543512.3:c.4913A>G, XM_011543512.2:c.4913A>G, XM_011543512.1:c.4913A>G, XM_017009630.2:c.4913A>G, XM_017009630.1:c.4913A>G, XM_017009631.2:c.4913A>G, XM_017009631.1:c.4913A>G, XM_047417373.1:c.4913A>G, XM_047417372.1:c.4913A>G, XM_047417374.1:c.4913A>G, XM_047417375.1:c.4913A>G, XM_047443312.1:c.4913A>G, XM_047443307.1:c.4913A>G, XM_047443311.1:c.4913A>G, XM_047443313.1:c.4913A>G, XM_047443308.1:c.4913A>G, XM_047443310.1:c.4913A>G, XM_047443309.1:c.4913A>G, XM_047443314.1:c.4913A>G, XM_047443315.1:c.4913A>G, NP_060899.2:p.Glu1638Gly, XP_011541813.1:p.Glu1638Gly, XP_011541814.1:p.Glu1638Gly, XP_016865119.1:p.Glu1638Gly, XP_016865120.1:p.Glu1638Gly, XP_047273329.1:p.Glu1638Gly, XP_047273328.1:p.Glu1638Gly, XP_047273330.1:p.Glu1638Gly, XP_047273331.1:p.Glu1638Gly

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