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Items: 1 to 20 of 760

1.

rs1490676044 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    1:190160689 (GRCh38)
    1:190129819 (GRCh37)
    Canonical SPDI:
    NC_000001.11:190160688:A:C,NC_000001.11:190160688:A:G,NC_000001.11:190160688:A:T
    Gene:
    BRINP3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.190160689A>C, NC_000001.11:g.190160689A>G, NC_000001.11:g.190160689A>T, NC_000001.10:g.190129819A>C, NC_000001.10:g.190129819A>G, NC_000001.10:g.190129819A>T, XM_011509472.3:c.1073T>G, XM_011509472.3:c.1073T>C, XM_011509472.3:c.1073T>A, XM_011509472.2:c.1073T>G, XM_011509472.2:c.1073T>C, XM_011509472.2:c.1073T>A, XM_011509472.1:c.1073T>G, XM_011509472.1:c.1073T>C, XM_011509472.1:c.1073T>A, NM_199051.3:c.1163T>G, NM_199051.3:c.1163T>C, NM_199051.3:c.1163T>A, NM_199051.2:c.1163T>G, NM_199051.2:c.1163T>C, NM_199051.2:c.1163T>A, NM_199051.1:c.1163T>G, NM_199051.1:c.1163T>C, NM_199051.1:c.1163T>A, XM_011509476.3:c.857T>G, XM_011509476.3:c.857T>C, XM_011509476.3:c.857T>A, XM_011509476.2:c.857T>G, XM_011509476.2:c.857T>C, XM_011509476.2:c.857T>A, XM_011509476.1:c.857T>G, XM_011509476.1:c.857T>C, XM_011509476.1:c.857T>A, XM_011509475.3:c.1034T>G, XM_011509475.3:c.1034T>C, XM_011509475.3:c.1034T>A, XM_011509475.2:c.1034T>G, XM_011509475.2:c.1034T>C, XM_011509475.2:c.1034T>A, XM_011509475.1:c.1034T>G, XM_011509475.1:c.1034T>C, XM_011509475.1:c.1034T>A, XM_017001125.2:c.1163T>G, XM_017001125.2:c.1163T>C, XM_017001125.2:c.1163T>A, XM_017001125.1:c.1163T>G, XM_017001125.1:c.1163T>C, XM_017001125.1:c.1163T>A, XM_017001126.2:c.1163T>G, XM_017001126.2:c.1163T>C, XM_017001126.2:c.1163T>A, XM_017001126.1:c.1163T>G, XM_017001126.1:c.1163T>C, XM_017001126.1:c.1163T>A, XM_017001127.2:c.1073T>G, XM_017001127.2:c.1073T>C, XM_017001127.2:c.1073T>A, XM_017001127.1:c.1073T>G, XM_017001127.1:c.1073T>C, XM_017001127.1:c.1073T>A, XM_017001132.2:c.1163T>G, XM_017001132.2:c.1163T>C, XM_017001132.2:c.1163T>A, XM_017001132.1:c.1163T>G, XM_017001132.1:c.1163T>C, XM_017001132.1:c.1163T>A, XM_017001128.2:c.1073T>G, XM_017001128.2:c.1073T>C, XM_017001128.2:c.1073T>A, XM_017001128.1:c.1073T>G, XM_017001128.1:c.1073T>C, XM_017001128.1:c.1073T>A, XM_017001129.2:c.857T>G, XM_017001129.2:c.857T>C, XM_017001129.2:c.857T>A, XM_017001129.1:c.857T>G, XM_017001129.1:c.857T>C, XM_017001129.1:c.857T>A, NM_001317188.2:c.857T>G, NM_001317188.2:c.857T>C, NM_001317188.2:c.857T>A, NM_001317188.1:c.857T>G, NM_001317188.1:c.857T>C, NM_001317188.1:c.857T>A, XM_017001133.2:c.1163T>G, XM_017001133.2:c.1163T>C, XM_017001133.2:c.1163T>A, XM_017001133.1:c.1163T>G, XM_017001133.1:c.1163T>C, XM_017001133.1:c.1163T>A, XM_047419245.1:c.1163T>G, XM_047419245.1:c.1163T>C, XM_047419245.1:c.1163T>A, XM_047419250.1:c.1163T>G, XM_047419250.1:c.1163T>C, XM_047419250.1:c.1163T>A, XP_011507774.1:p.Leu358Arg, XP_011507774.1:p.Leu358Pro, XP_011507774.1:p.Leu358His, NP_950252.1:p.Leu388Arg, NP_950252.1:p.Leu388Pro, NP_950252.1:p.Leu388His, XP_011507778.1:p.Leu286Arg, XP_011507778.1:p.Leu286Pro, XP_011507778.1:p.Leu286His, XP_011507777.1:p.Leu345Arg, XP_011507777.1:p.Leu345Pro, XP_011507777.1:p.Leu345His, XP_016856614.1:p.Leu388Arg, XP_016856614.1:p.Leu388Pro, XP_016856614.1:p.Leu388His, XP_016856615.1:p.Leu388Arg, XP_016856615.1:p.Leu388Pro, XP_016856615.1:p.Leu388His, XP_016856616.1:p.Leu358Arg, XP_016856616.1:p.Leu358Pro, XP_016856616.1:p.Leu358His, XP_016856621.1:p.Leu388Arg, XP_016856621.1:p.Leu388Pro, XP_016856621.1:p.Leu388His, XP_016856617.1:p.Leu358Arg, XP_016856617.1:p.Leu358Pro, XP_016856617.1:p.Leu358His, XP_016856618.1:p.Leu286Arg, XP_016856618.1:p.Leu286Pro, XP_016856618.1:p.Leu286His, NP_001304117.1:p.Leu286Arg, NP_001304117.1:p.Leu286Pro, NP_001304117.1:p.Leu286His, XP_016856622.1:p.Leu388Arg, XP_016856622.1:p.Leu388Pro, XP_016856622.1:p.Leu388His, XP_047275201.1:p.Leu388Arg, XP_047275201.1:p.Leu388Pro, XP_047275201.1:p.Leu388His, XP_047275206.1:p.Leu388Arg, XP_047275206.1:p.Leu388Pro, XP_047275206.1:p.Leu388His

    2.

    rs1490137671 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:190454687 (GRCh38)
      1:190423817 (GRCh37)
      Canonical SPDI:
      NC_000001.11:190454686:C:T
      Gene:
      BRINP3 (Varview)
      Functional Consequence:
      synonymous_variant,missense_variant,genic_upstream_transcript_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)
      T=0.000035/1 (TOMMO)
      HGVS:
      NC_000001.11:g.190454687C>T, NC_000001.10:g.190423817C>T, XM_011509472.3:c.89G>A, XM_011509472.2:c.89G>A, XM_011509472.1:c.89G>A, NM_199051.3:c.204G>A, NM_199051.2:c.204G>A, NM_199051.1:c.204G>A, XM_011509476.3:c.89G>A, XM_011509476.2:c.89G>A, XM_011509476.1:c.89G>A, XM_017001125.2:c.204G>A, XM_017001125.1:c.204G>A, XM_017001126.2:c.204G>A, XM_017001126.1:c.204G>A, XM_017001127.2:c.89G>A, XM_017001127.1:c.89G>A, XM_017001132.2:c.204G>A, XM_017001132.1:c.204G>A, XM_017001128.2:c.89G>A, XM_017001128.1:c.89G>A, XM_017001129.2:c.89G>A, XM_017001129.1:c.89G>A, NM_001317188.2:c.89G>A, NM_001317188.1:c.89G>A, XM_017001133.2:c.204G>A, XM_017001133.1:c.204G>A, XM_047419245.1:c.204G>A, XM_047419250.1:c.204G>A, XP_011507774.1:p.Gly30Asp, XP_011507778.1:p.Gly30Asp, XP_016856616.1:p.Gly30Asp, XP_016856617.1:p.Gly30Asp, XP_016856618.1:p.Gly30Asp, NP_001304117.1:p.Gly30Asp

      3.

      rs1489676013 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:190160780 (GRCh38)
        1:190129910 (GRCh37)
        Canonical SPDI:
        NC_000001.11:190160779:G:C
        Gene:
        BRINP3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000224/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000223/1 (Estonian)
        HGVS:
        NC_000001.11:g.190160780G>C, NC_000001.10:g.190129910G>C, XM_011509472.3:c.982C>G, XM_011509472.2:c.982C>G, XM_011509472.1:c.982C>G, NM_199051.3:c.1072C>G, NM_199051.2:c.1072C>G, NM_199051.1:c.1072C>G, XM_011509476.3:c.766C>G, XM_011509476.2:c.766C>G, XM_011509476.1:c.766C>G, XM_011509475.3:c.943C>G, XM_011509475.2:c.943C>G, XM_011509475.1:c.943C>G, XM_017001125.2:c.1072C>G, XM_017001125.1:c.1072C>G, XM_017001126.2:c.1072C>G, XM_017001126.1:c.1072C>G, XM_017001127.2:c.982C>G, XM_017001127.1:c.982C>G, XM_017001132.2:c.1072C>G, XM_017001132.1:c.1072C>G, XM_017001128.2:c.982C>G, XM_017001128.1:c.982C>G, XM_017001129.2:c.766C>G, XM_017001129.1:c.766C>G, NM_001317188.2:c.766C>G, NM_001317188.1:c.766C>G, XM_017001133.2:c.1072C>G, XM_017001133.1:c.1072C>G, XM_047419245.1:c.1072C>G, XM_047419250.1:c.1072C>G, XP_011507774.1:p.Leu328Val, NP_950252.1:p.Leu358Val, XP_011507778.1:p.Leu256Val, XP_011507777.1:p.Leu315Val, XP_016856614.1:p.Leu358Val, XP_016856615.1:p.Leu358Val, XP_016856616.1:p.Leu328Val, XP_016856621.1:p.Leu358Val, XP_016856617.1:p.Leu328Val, XP_016856618.1:p.Leu256Val, NP_001304117.1:p.Leu256Val, XP_016856622.1:p.Leu358Val, XP_047275201.1:p.Leu358Val, XP_047275206.1:p.Leu358Val

        4.

        rs1486612699 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          1:190098283 (GRCh38)
          1:190067413 (GRCh37)
          Canonical SPDI:
          NC_000001.11:190098282:G:T
          Gene:
          BRINP3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          T=0.000071/1 (TOMMO)
          HGVS:
          NC_000001.11:g.190098283G>T, NC_000001.10:g.190067413G>T, XM_011509472.3:c.1946C>A, XM_011509472.2:c.1946C>A, XM_011509472.1:c.1946C>A, NM_199051.3:c.2036C>A, NM_199051.2:c.2036C>A, NM_199051.1:c.2036C>A, XM_011509476.3:c.1730C>A, XM_011509476.2:c.1730C>A, XM_011509476.1:c.1730C>A, XM_011509475.3:c.1907C>A, XM_011509475.2:c.1907C>A, XM_011509475.1:c.1907C>A, XM_017001125.2:c.2036C>A, XM_017001125.1:c.2036C>A, XM_017001126.2:c.2036C>A, XM_017001126.1:c.2036C>A, XM_017001127.2:c.1946C>A, XM_017001127.1:c.1946C>A, XM_017001128.2:c.1946C>A, XM_017001128.1:c.1946C>A, XM_017001129.2:c.1730C>A, XM_017001129.1:c.1730C>A, NM_001317188.2:c.1730C>A, NM_001317188.1:c.1730C>A, XM_047419245.1:c.2036C>A, XM_047419250.1:c.2036C>A, XP_011507774.1:p.Ala649Glu, NP_950252.1:p.Ala679Glu, XP_011507778.1:p.Ala577Glu, XP_011507777.1:p.Ala636Glu, XP_016856614.1:p.Ala679Glu, XP_016856615.1:p.Ala679Glu, XP_016856616.1:p.Ala649Glu, XP_016856617.1:p.Ala649Glu, XP_016856618.1:p.Ala577Glu, NP_001304117.1:p.Ala577Glu, XP_047275201.1:p.Ala679Glu, XP_047275206.1:p.Ala679Glu

          5.

          rs1485792216 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            1:190281700 (GRCh38)
            1:190250830 (GRCh37)
            Canonical SPDI:
            NC_000001.11:190281699:A:C
            Gene:
            BRINP3 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000111/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.190281700A>C, NC_000001.10:g.190250830A>C, XM_011509472.3:c.197T>G, XM_011509472.2:c.197T>G, XM_011509472.1:c.197T>G, NM_199051.3:c.287T>G, NM_199051.2:c.287T>G, NM_199051.1:c.287T>G, XM_011509475.3:c.158T>G, XM_011509475.2:c.158T>G, XM_011509475.1:c.158T>G, XM_017001125.2:c.287T>G, XM_017001125.1:c.287T>G, XM_017001126.2:c.287T>G, XM_017001126.1:c.287T>G, XM_017001127.2:c.197T>G, XM_017001127.1:c.197T>G, XM_017001132.2:c.287T>G, XM_017001132.1:c.287T>G, XM_017001128.2:c.197T>G, XM_017001128.1:c.197T>G, XM_017001133.2:c.287T>G, XM_017001133.1:c.287T>G, XM_047419245.1:c.287T>G, XM_047419250.1:c.287T>G, XP_011507774.1:p.Phe66Cys, NP_950252.1:p.Phe96Cys, XP_011507777.1:p.Phe53Cys, XP_016856614.1:p.Phe96Cys, XP_016856615.1:p.Phe96Cys, XP_016856616.1:p.Phe66Cys, XP_016856621.1:p.Phe96Cys, XP_016856617.1:p.Phe66Cys, XP_016856622.1:p.Phe96Cys, XP_047275201.1:p.Phe96Cys, XP_047275206.1:p.Phe96Cys

            6.

            rs1484753796 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              1:190160887 (GRCh38)
              1:190130017 (GRCh37)
              Canonical SPDI:
              NC_000001.11:190160886:T:A
              Gene:
              BRINP3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000047/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.190160887T>A, NC_000001.10:g.190130017T>A, XM_011509472.3:c.875A>T, XM_011509472.2:c.875A>T, XM_011509472.1:c.875A>T, NM_199051.3:c.965A>T, NM_199051.2:c.965A>T, NM_199051.1:c.965A>T, XM_011509476.3:c.659A>T, XM_011509476.2:c.659A>T, XM_011509476.1:c.659A>T, XM_011509475.3:c.836A>T, XM_011509475.2:c.836A>T, XM_011509475.1:c.836A>T, XM_017001125.2:c.965A>T, XM_017001125.1:c.965A>T, XM_017001126.2:c.965A>T, XM_017001126.1:c.965A>T, XM_017001127.2:c.875A>T, XM_017001127.1:c.875A>T, XM_017001132.2:c.965A>T, XM_017001132.1:c.965A>T, XM_017001128.2:c.875A>T, XM_017001128.1:c.875A>T, XM_017001129.2:c.659A>T, XM_017001129.1:c.659A>T, NM_001317188.2:c.659A>T, NM_001317188.1:c.659A>T, XM_017001133.2:c.965A>T, XM_017001133.1:c.965A>T, XM_047419245.1:c.965A>T, XM_047419250.1:c.965A>T, XP_011507774.1:p.Glu292Val, NP_950252.1:p.Glu322Val, XP_011507778.1:p.Glu220Val, XP_011507777.1:p.Glu279Val, XP_016856614.1:p.Glu322Val, XP_016856615.1:p.Glu322Val, XP_016856616.1:p.Glu292Val, XP_016856621.1:p.Glu322Val, XP_016856617.1:p.Glu292Val, XP_016856618.1:p.Glu220Val, NP_001304117.1:p.Glu220Val, XP_016856622.1:p.Glu322Val, XP_047275201.1:p.Glu322Val, XP_047275206.1:p.Glu322Val

              7.

              rs1483447758 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:190099016 (GRCh38)
                1:190068146 (GRCh37)
                Canonical SPDI:
                NC_000001.11:190099015:A:G
                Gene:
                BRINP3 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.190099016A>G, NC_000001.10:g.190068146A>G, XM_011509472.3:c.1213T>C, XM_011509472.2:c.1213T>C, XM_011509472.1:c.1213T>C, NM_199051.3:c.1303T>C, NM_199051.2:c.1303T>C, NM_199051.1:c.1303T>C, XM_011509476.3:c.997T>C, XM_011509476.2:c.997T>C, XM_011509476.1:c.997T>C, XM_011509475.3:c.1174T>C, XM_011509475.2:c.1174T>C, XM_011509475.1:c.1174T>C, XM_017001125.2:c.1303T>C, XM_017001125.1:c.1303T>C, XM_017001126.2:c.1303T>C, XM_017001126.1:c.1303T>C, XM_017001127.2:c.1213T>C, XM_017001127.1:c.1213T>C, XM_017001128.2:c.1213T>C, XM_017001128.1:c.1213T>C, XM_017001129.2:c.997T>C, XM_017001129.1:c.997T>C, NM_001317188.2:c.997T>C, NM_001317188.1:c.997T>C, XM_047419245.1:c.1303T>C, XM_047419250.1:c.1303T>C, XP_011507774.1:p.Cys405Arg, NP_950252.1:p.Cys435Arg, XP_011507778.1:p.Cys333Arg, XP_011507777.1:p.Cys392Arg, XP_016856614.1:p.Cys435Arg, XP_016856615.1:p.Cys435Arg, XP_016856616.1:p.Cys405Arg, XP_016856617.1:p.Cys405Arg, XP_016856618.1:p.Cys333Arg, NP_001304117.1:p.Cys333Arg, XP_047275201.1:p.Cys435Arg, XP_047275206.1:p.Cys435Arg

                8.

                rs1482921481 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  1:190281653 (GRCh38)
                  1:190250783 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:190281652:T:G
                  Gene:
                  BRINP3 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1482430984 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:190264983 (GRCh38)
                    1:190234113 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:190264982:G:C
                    Gene:
                    BRINP3 (Varview), LOC105371659 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,genic_downstream_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_000001.11:g.190264983G>C, NC_000001.10:g.190234113G>C, XM_011509472.3:c.410C>G, XM_011509472.2:c.410C>G, XM_011509472.1:c.410C>G, NM_199051.3:c.500C>G, NM_199051.2:c.500C>G, NM_199051.1:c.500C>G, XM_011509476.3:c.194C>G, XM_011509476.2:c.194C>G, XM_011509476.1:c.194C>G, XM_011509475.3:c.371C>G, XM_011509475.2:c.371C>G, XM_011509475.1:c.371C>G, XR_922376.3:n.311G>C, XM_017001125.2:c.500C>G, XM_017001125.1:c.500C>G, XM_017001126.2:c.500C>G, XM_017001126.1:c.500C>G, XM_017001127.2:c.410C>G, XM_017001127.1:c.410C>G, XM_017001132.2:c.500C>G, XM_017001132.1:c.500C>G, XM_017001128.2:c.410C>G, XM_017001128.1:c.410C>G, XM_017001129.2:c.194C>G, XM_017001129.1:c.194C>G, NM_001317188.2:c.194C>G, NM_001317188.1:c.194C>G, XM_017001133.2:c.500C>G, XM_017001133.1:c.500C>G, XM_047419245.1:c.500C>G, XM_047419250.1:c.500C>G, XP_011507774.1:p.Thr137Ser, NP_950252.1:p.Thr167Ser, XP_011507778.1:p.Thr65Ser, XP_011507777.1:p.Thr124Ser, XP_016856614.1:p.Thr167Ser, XP_016856615.1:p.Thr167Ser, XP_016856616.1:p.Thr137Ser, XP_016856621.1:p.Thr167Ser, XP_016856617.1:p.Thr137Ser, XP_016856618.1:p.Thr65Ser, NP_001304117.1:p.Thr65Ser, XP_016856622.1:p.Thr167Ser, XP_047275201.1:p.Thr167Ser, XP_047275206.1:p.Thr167Ser

                    10.

                    rs1482425775 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:190160672 (GRCh38)
                      1:190129802 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:190160671:G:C
                      Gene:
                      BRINP3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000028/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.190160672G>C, NC_000001.10:g.190129802G>C, XM_011509472.3:c.1090C>G, XM_011509472.2:c.1090C>G, XM_011509472.1:c.1090C>G, NM_199051.3:c.1180C>G, NM_199051.2:c.1180C>G, NM_199051.1:c.1180C>G, XM_011509476.3:c.874C>G, XM_011509476.2:c.874C>G, XM_011509476.1:c.874C>G, XM_011509475.3:c.1051C>G, XM_011509475.2:c.1051C>G, XM_011509475.1:c.1051C>G, XM_017001125.2:c.1180C>G, XM_017001125.1:c.1180C>G, XM_017001126.2:c.1180C>G, XM_017001126.1:c.1180C>G, XM_017001127.2:c.1090C>G, XM_017001127.1:c.1090C>G, XM_017001132.2:c.1180C>G, XM_017001132.1:c.1180C>G, XM_017001128.2:c.1090C>G, XM_017001128.1:c.1090C>G, XM_017001129.2:c.874C>G, XM_017001129.1:c.874C>G, NM_001317188.2:c.874C>G, NM_001317188.1:c.874C>G, XM_017001133.2:c.1180C>G, XM_017001133.1:c.1180C>G, XM_047419245.1:c.1180C>G, XM_047419250.1:c.1180C>G, XP_011507774.1:p.Gln364Glu, NP_950252.1:p.Gln394Glu, XP_011507778.1:p.Gln292Glu, XP_011507777.1:p.Gln351Glu, XP_016856614.1:p.Gln394Glu, XP_016856615.1:p.Gln394Glu, XP_016856616.1:p.Gln364Glu, XP_016856621.1:p.Gln394Glu, XP_016856617.1:p.Gln364Glu, XP_016856618.1:p.Gln292Glu, NP_001304117.1:p.Gln292Glu, XP_016856622.1:p.Gln394Glu, XP_047275201.1:p.Gln394Glu, XP_047275206.1:p.Gln394Glu

                      11.

                      rs1482407388 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        1:190099011 (GRCh38)
                        1:190068141 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:190099010:G:A,NC_000001.11:190099010:G:T
                        Gene:
                        BRINP3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.190099011G>A, NC_000001.11:g.190099011G>T, NC_000001.10:g.190068141G>A, NC_000001.10:g.190068141G>T, XM_011509472.3:c.1218C>T, XM_011509472.3:c.1218C>A, XM_011509472.2:c.1218C>T, XM_011509472.2:c.1218C>A, XM_011509472.1:c.1218C>T, XM_011509472.1:c.1218C>A, NM_199051.3:c.1308C>T, NM_199051.3:c.1308C>A, NM_199051.2:c.1308C>T, NM_199051.2:c.1308C>A, NM_199051.1:c.1308C>T, NM_199051.1:c.1308C>A, XM_011509476.3:c.1002C>T, XM_011509476.3:c.1002C>A, XM_011509476.2:c.1002C>T, XM_011509476.2:c.1002C>A, XM_011509476.1:c.1002C>T, XM_011509476.1:c.1002C>A, XM_011509475.3:c.1179C>T, XM_011509475.3:c.1179C>A, XM_011509475.2:c.1179C>T, XM_011509475.2:c.1179C>A, XM_011509475.1:c.1179C>T, XM_011509475.1:c.1179C>A, XM_017001125.2:c.1308C>T, XM_017001125.2:c.1308C>A, XM_017001125.1:c.1308C>T, XM_017001125.1:c.1308C>A, XM_017001126.2:c.1308C>T, XM_017001126.2:c.1308C>A, XM_017001126.1:c.1308C>T, XM_017001126.1:c.1308C>A, XM_017001127.2:c.1218C>T, XM_017001127.2:c.1218C>A, XM_017001127.1:c.1218C>T, XM_017001127.1:c.1218C>A, XM_017001128.2:c.1218C>T, XM_017001128.2:c.1218C>A, XM_017001128.1:c.1218C>T, XM_017001128.1:c.1218C>A, XM_017001129.2:c.1002C>T, XM_017001129.2:c.1002C>A, XM_017001129.1:c.1002C>T, XM_017001129.1:c.1002C>A, NM_001317188.2:c.1002C>T, NM_001317188.2:c.1002C>A, NM_001317188.1:c.1002C>T, NM_001317188.1:c.1002C>A, XM_047419245.1:c.1308C>T, XM_047419245.1:c.1308C>A, XM_047419250.1:c.1308C>T, XM_047419250.1:c.1308C>A

                        12.

                        rs1481235972 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:190281711 (GRCh38)
                          1:190250841 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:190281710:C:A
                          Gene:
                          BRINP3 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000001.11:g.190281711C>A, NC_000001.10:g.190250841C>A, XM_011509472.3:c.186G>T, XM_011509472.2:c.186G>T, XM_011509472.1:c.186G>T, NM_199051.3:c.276G>T, NM_199051.2:c.276G>T, NM_199051.1:c.276G>T, XM_011509475.3:c.147G>T, XM_011509475.2:c.147G>T, XM_011509475.1:c.147G>T, XM_017001125.2:c.276G>T, XM_017001125.1:c.276G>T, XM_017001126.2:c.276G>T, XM_017001126.1:c.276G>T, XM_017001127.2:c.186G>T, XM_017001127.1:c.186G>T, XM_017001132.2:c.276G>T, XM_017001132.1:c.276G>T, XM_017001128.2:c.186G>T, XM_017001128.1:c.186G>T, XM_017001133.2:c.276G>T, XM_017001133.1:c.276G>T, XM_047419245.1:c.276G>T, XM_047419250.1:c.276G>T, XP_011507774.1:p.Glu62Asp, NP_950252.1:p.Glu92Asp, XP_011507777.1:p.Glu49Asp, XP_016856614.1:p.Glu92Asp, XP_016856615.1:p.Glu92Asp, XP_016856616.1:p.Glu62Asp, XP_016856621.1:p.Glu92Asp, XP_016856617.1:p.Glu62Asp, XP_016856622.1:p.Glu92Asp, XP_047275201.1:p.Glu92Asp, XP_047275206.1:p.Glu92Asp

                          13.

                          rs1480251794 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:190264975 (GRCh38)
                            1:190234105 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:190264974:A:G
                            Gene:
                            BRINP3 (Varview), LOC105371659 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.190264975A>G, NC_000001.10:g.190234105A>G, XM_011509472.3:c.418T>C, XM_011509472.2:c.418T>C, XM_011509472.1:c.418T>C, NM_199051.3:c.508T>C, NM_199051.2:c.508T>C, NM_199051.1:c.508T>C, XM_011509476.3:c.202T>C, XM_011509476.2:c.202T>C, XM_011509476.1:c.202T>C, XM_011509475.3:c.379T>C, XM_011509475.2:c.379T>C, XM_011509475.1:c.379T>C, XR_922376.3:n.303A>G, XM_017001125.2:c.508T>C, XM_017001125.1:c.508T>C, XM_017001126.2:c.508T>C, XM_017001126.1:c.508T>C, XM_017001127.2:c.418T>C, XM_017001127.1:c.418T>C, XM_017001132.2:c.508T>C, XM_017001132.1:c.508T>C, XM_017001128.2:c.418T>C, XM_017001128.1:c.418T>C, XM_017001129.2:c.202T>C, XM_017001129.1:c.202T>C, NM_001317188.2:c.202T>C, NM_001317188.1:c.202T>C, XM_017001133.2:c.508T>C, XM_017001133.1:c.508T>C, XM_047419245.1:c.508T>C, XM_047419250.1:c.508T>C, XP_011507774.1:p.Ser140Pro, NP_950252.1:p.Ser170Pro, XP_011507778.1:p.Ser68Pro, XP_011507777.1:p.Ser127Pro, XP_016856614.1:p.Ser170Pro, XP_016856615.1:p.Ser170Pro, XP_016856616.1:p.Ser140Pro, XP_016856621.1:p.Ser170Pro, XP_016856617.1:p.Ser140Pro, XP_016856618.1:p.Ser68Pro, NP_001304117.1:p.Ser68Pro, XP_016856622.1:p.Ser170Pro, XP_047275201.1:p.Ser170Pro, XP_047275206.1:p.Ser170Pro

                            14.

                            rs1480139518 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:190160825 (GRCh38)
                              1:190129955 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:190160824:G:A
                              Gene:
                              BRINP3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.190160825G>A, NC_000001.10:g.190129955G>A, XM_011509472.3:c.937C>T, XM_011509472.2:c.937C>T, XM_011509472.1:c.937C>T, NM_199051.3:c.1027C>T, NM_199051.2:c.1027C>T, NM_199051.1:c.1027C>T, XM_011509476.3:c.721C>T, XM_011509476.2:c.721C>T, XM_011509476.1:c.721C>T, XM_011509475.3:c.898C>T, XM_011509475.2:c.898C>T, XM_011509475.1:c.898C>T, XM_017001125.2:c.1027C>T, XM_017001125.1:c.1027C>T, XM_017001126.2:c.1027C>T, XM_017001126.1:c.1027C>T, XM_017001127.2:c.937C>T, XM_017001127.1:c.937C>T, XM_017001132.2:c.1027C>T, XM_017001132.1:c.1027C>T, XM_017001128.2:c.937C>T, XM_017001128.1:c.937C>T, XM_017001129.2:c.721C>T, XM_017001129.1:c.721C>T, NM_001317188.2:c.721C>T, NM_001317188.1:c.721C>T, XM_017001133.2:c.1027C>T, XM_017001133.1:c.1027C>T, XM_047419245.1:c.1027C>T, XM_047419250.1:c.1027C>T, XP_011507774.1:p.His313Tyr, NP_950252.1:p.His343Tyr, XP_011507778.1:p.His241Tyr, XP_011507777.1:p.His300Tyr, XP_016856614.1:p.His343Tyr, XP_016856615.1:p.His343Tyr, XP_016856616.1:p.His313Tyr, XP_016856621.1:p.His343Tyr, XP_016856617.1:p.His313Tyr, XP_016856618.1:p.His241Tyr, NP_001304117.1:p.His241Tyr, XP_016856622.1:p.His343Tyr, XP_047275201.1:p.His343Tyr, XP_047275206.1:p.His343Tyr

                              15.

                              rs1478654540 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:190099087 (GRCh38)
                                1:190068217 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:190099086:T:C
                                Gene:
                                BRINP3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000047/1 (ALFA)
                                C=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.190099087T>C, NC_000001.10:g.190068217T>C, XM_011509472.3:c.1142A>G, XM_011509472.2:c.1142A>G, XM_011509472.1:c.1142A>G, NM_199051.3:c.1232A>G, NM_199051.2:c.1232A>G, NM_199051.1:c.1232A>G, XM_011509476.3:c.926A>G, XM_011509476.2:c.926A>G, XM_011509476.1:c.926A>G, XM_011509475.3:c.1103A>G, XM_011509475.2:c.1103A>G, XM_011509475.1:c.1103A>G, XM_017001125.2:c.1232A>G, XM_017001125.1:c.1232A>G, XM_017001126.2:c.1232A>G, XM_017001126.1:c.1232A>G, XM_017001127.2:c.1142A>G, XM_017001127.1:c.1142A>G, XM_017001128.2:c.1142A>G, XM_017001128.1:c.1142A>G, XM_017001129.2:c.926A>G, XM_017001129.1:c.926A>G, NM_001317188.2:c.926A>G, NM_001317188.1:c.926A>G, XM_047419245.1:c.1232A>G, XM_047419250.1:c.1232A>G, XP_011507774.1:p.Asn381Ser, NP_950252.1:p.Asn411Ser, XP_011507778.1:p.Asn309Ser, XP_011507777.1:p.Asn368Ser, XP_016856614.1:p.Asn411Ser, XP_016856615.1:p.Asn411Ser, XP_016856616.1:p.Asn381Ser, XP_016856617.1:p.Asn381Ser, XP_016856618.1:p.Asn309Ser, NP_001304117.1:p.Asn309Ser, XP_047275201.1:p.Asn411Ser, XP_047275206.1:p.Asn411Ser

                                16.

                                rs1478631876 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:190160785 (GRCh38)
                                  1:190129915 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:190160784:T:C
                                  Gene:
                                  BRINP3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.190160785T>C, NC_000001.10:g.190129915T>C, XM_011509472.3:c.977A>G, XM_011509472.2:c.977A>G, XM_011509472.1:c.977A>G, NM_199051.3:c.1067A>G, NM_199051.2:c.1067A>G, NM_199051.1:c.1067A>G, XM_011509476.3:c.761A>G, XM_011509476.2:c.761A>G, XM_011509476.1:c.761A>G, XM_011509475.3:c.938A>G, XM_011509475.2:c.938A>G, XM_011509475.1:c.938A>G, XM_017001125.2:c.1067A>G, XM_017001125.1:c.1067A>G, XM_017001126.2:c.1067A>G, XM_017001126.1:c.1067A>G, XM_017001127.2:c.977A>G, XM_017001127.1:c.977A>G, XM_017001132.2:c.1067A>G, XM_017001132.1:c.1067A>G, XM_017001128.2:c.977A>G, XM_017001128.1:c.977A>G, XM_017001129.2:c.761A>G, XM_017001129.1:c.761A>G, NM_001317188.2:c.761A>G, NM_001317188.1:c.761A>G, XM_017001133.2:c.1067A>G, XM_017001133.1:c.1067A>G, XM_047419245.1:c.1067A>G, XM_047419250.1:c.1067A>G, XP_011507774.1:p.Glu326Gly, NP_950252.1:p.Glu356Gly, XP_011507778.1:p.Glu254Gly, XP_011507777.1:p.Glu313Gly, XP_016856614.1:p.Glu356Gly, XP_016856615.1:p.Glu356Gly, XP_016856616.1:p.Glu326Gly, XP_016856621.1:p.Glu356Gly, XP_016856617.1:p.Glu326Gly, XP_016856618.1:p.Glu254Gly, NP_001304117.1:p.Glu254Gly, XP_016856622.1:p.Glu356Gly, XP_047275201.1:p.Glu356Gly, XP_047275206.1:p.Glu356Gly

                                  17.

                                  rs1476259740 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    1:190098195 (GRCh38)
                                    1:190067325 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:190098194:G:T
                                    Gene:
                                    BRINP3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.190098195G>T, NC_000001.10:g.190067325G>T, XM_011509472.3:c.2034C>A, XM_011509472.2:c.2034C>A, XM_011509472.1:c.2034C>A, NM_199051.3:c.2124C>A, NM_199051.2:c.2124C>A, NM_199051.1:c.2124C>A, XM_011509476.3:c.1818C>A, XM_011509476.2:c.1818C>A, XM_011509476.1:c.1818C>A, XM_011509475.3:c.1995C>A, XM_011509475.2:c.1995C>A, XM_011509475.1:c.1995C>A, XM_017001125.2:c.2124C>A, XM_017001125.1:c.2124C>A, XM_017001126.2:c.2124C>A, XM_017001126.1:c.2124C>A, XM_017001127.2:c.2034C>A, XM_017001127.1:c.2034C>A, XM_017001128.2:c.2034C>A, XM_017001128.1:c.2034C>A, XM_017001129.2:c.1818C>A, XM_017001129.1:c.1818C>A, NM_001317188.2:c.1818C>A, NM_001317188.1:c.1818C>A, XM_047419245.1:c.2124C>A, XM_047419250.1:c.2124C>A, XP_011507774.1:p.Asp678Glu, NP_950252.1:p.Asp708Glu, XP_011507778.1:p.Asp606Glu, XP_011507777.1:p.Asp665Glu, XP_016856614.1:p.Asp708Glu, XP_016856615.1:p.Asp708Glu, XP_016856616.1:p.Asp678Glu, XP_016856617.1:p.Asp678Glu, XP_016856618.1:p.Asp606Glu, NP_001304117.1:p.Asp606Glu, XP_047275201.1:p.Asp708Glu, XP_047275206.1:p.Asp708Glu

                                    18.

                                    rs1472012045 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      1:190098561 (GRCh38)
                                      1:190067691 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:190098560:C:A,NC_000001.11:190098560:C:T
                                      Gene:
                                      BRINP3 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.190098561C>A, NC_000001.11:g.190098561C>T, NC_000001.10:g.190067691C>A, NC_000001.10:g.190067691C>T, XM_011509472.3:c.1668G>T, XM_011509472.3:c.1668G>A, XM_011509472.2:c.1668G>T, XM_011509472.2:c.1668G>A, XM_011509472.1:c.1668G>T, XM_011509472.1:c.1668G>A, NM_199051.3:c.1758G>T, NM_199051.3:c.1758G>A, NM_199051.2:c.1758G>T, NM_199051.2:c.1758G>A, NM_199051.1:c.1758G>T, NM_199051.1:c.1758G>A, XM_011509476.3:c.1452G>T, XM_011509476.3:c.1452G>A, XM_011509476.2:c.1452G>T, XM_011509476.2:c.1452G>A, XM_011509476.1:c.1452G>T, XM_011509476.1:c.1452G>A, XM_011509475.3:c.1629G>T, XM_011509475.3:c.1629G>A, XM_011509475.2:c.1629G>T, XM_011509475.2:c.1629G>A, XM_011509475.1:c.1629G>T, XM_011509475.1:c.1629G>A, XM_017001125.2:c.1758G>T, XM_017001125.2:c.1758G>A, XM_017001125.1:c.1758G>T, XM_017001125.1:c.1758G>A, XM_017001126.2:c.1758G>T, XM_017001126.2:c.1758G>A, XM_017001126.1:c.1758G>T, XM_017001126.1:c.1758G>A, XM_017001127.2:c.1668G>T, XM_017001127.2:c.1668G>A, XM_017001127.1:c.1668G>T, XM_017001127.1:c.1668G>A, XM_017001128.2:c.1668G>T, XM_017001128.2:c.1668G>A, XM_017001128.1:c.1668G>T, XM_017001128.1:c.1668G>A, XM_017001129.2:c.1452G>T, XM_017001129.2:c.1452G>A, XM_017001129.1:c.1452G>T, XM_017001129.1:c.1452G>A, NM_001317188.2:c.1452G>T, NM_001317188.2:c.1452G>A, NM_001317188.1:c.1452G>T, NM_001317188.1:c.1452G>A, XM_047419245.1:c.1758G>T, XM_047419245.1:c.1758G>A, XM_047419250.1:c.1758G>T, XM_047419250.1:c.1758G>A, XP_011507774.1:p.Met556Ile, XP_011507774.1:p.Met556Ile, NP_950252.1:p.Met586Ile, NP_950252.1:p.Met586Ile, XP_011507778.1:p.Met484Ile, XP_011507778.1:p.Met484Ile, XP_011507777.1:p.Met543Ile, XP_011507777.1:p.Met543Ile, XP_016856614.1:p.Met586Ile, XP_016856614.1:p.Met586Ile, XP_016856615.1:p.Met586Ile, XP_016856615.1:p.Met586Ile, XP_016856616.1:p.Met556Ile, XP_016856616.1:p.Met556Ile, XP_016856617.1:p.Met556Ile, XP_016856617.1:p.Met556Ile, XP_016856618.1:p.Met484Ile, XP_016856618.1:p.Met484Ile, NP_001304117.1:p.Met484Ile, NP_001304117.1:p.Met484Ile, XP_047275201.1:p.Met586Ile, XP_047275201.1:p.Met586Ile, XP_047275206.1:p.Met586Ile, XP_047275206.1:p.Met586Ile

                                      19.

                                      rs1471961126 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        1:190098501 (GRCh38)
                                        1:190067631 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:190098500:C:A
                                        Gene:
                                        BRINP3 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.190098501C>A, NC_000001.10:g.190067631C>A, XM_011509472.3:c.1728G>T, XM_011509472.2:c.1728G>T, XM_011509472.1:c.1728G>T, NM_199051.3:c.1818G>T, NM_199051.2:c.1818G>T, NM_199051.1:c.1818G>T, XM_011509476.3:c.1512G>T, XM_011509476.2:c.1512G>T, XM_011509476.1:c.1512G>T, XM_011509475.3:c.1689G>T, XM_011509475.2:c.1689G>T, XM_011509475.1:c.1689G>T, XM_017001125.2:c.1818G>T, XM_017001125.1:c.1818G>T, XM_017001126.2:c.1818G>T, XM_017001126.1:c.1818G>T, XM_017001127.2:c.1728G>T, XM_017001127.1:c.1728G>T, XM_017001128.2:c.1728G>T, XM_017001128.1:c.1728G>T, XM_017001129.2:c.1512G>T, XM_017001129.1:c.1512G>T, NM_001317188.2:c.1512G>T, NM_001317188.1:c.1512G>T, XM_047419245.1:c.1818G>T, XM_047419250.1:c.1818G>T, XP_011507774.1:p.Gln576His, NP_950252.1:p.Gln606His, XP_011507778.1:p.Gln504His, XP_011507777.1:p.Gln563His, XP_016856614.1:p.Gln606His, XP_016856615.1:p.Gln606His, XP_016856616.1:p.Gln576His, XP_016856617.1:p.Gln576His, XP_016856618.1:p.Gln504His, NP_001304117.1:p.Gln504His, XP_047275201.1:p.Gln606His, XP_047275206.1:p.Gln606His

                                        20.

                                        rs1471383135 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:190234385 (GRCh38)
                                          1:190203515 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:190234384:C:T
                                          Gene:
                                          BRINP3 (Varview), LOC105371659 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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