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Items: 1 to 20 of 900

1.

rs1490732516 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:61801379 (GRCh38)
    17:59878740 (GRCh37)
    Canonical SPDI:
    NC_000017.11:61801378:T:C
    Gene:
    BRIP1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Clinical significance:
    uncertain-significance,likely-benign
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.61801379T>C, NC_000017.10:g.59878740T>C, NG_007409.2:g.67181A>G, NM_032043.3:c.1014A>G, NM_032043.2:c.1014A>G, XM_011525332.4:c.1014A>G, XM_011525332.3:c.1014A>G, XM_011525332.2:c.1014A>G, XM_011525332.1:c.1014A>G, XM_011525333.4:c.1014A>G, XM_011525333.3:c.1014A>G, XM_011525333.2:c.1014A>G, XM_011525333.1:c.1014A>G, XM_011525335.4:c.1014A>G, XM_011525335.3:c.1014A>G, XM_011525335.2:c.1014A>G, XM_011525335.1:c.1014A>G, XM_011525340.4:c.1014A>G, XM_011525340.3:c.1014A>G, XM_011525340.2:c.1014A>G, XM_011525340.1:c.1014A>G, XM_011525339.4:c.1014A>G, XM_011525339.3:c.1014A>G, XM_011525339.2:c.1014A>G, XM_011525339.1:c.1014A>G, XM_011525341.4:c.1014A>G, XM_011525341.3:c.1014A>G, XM_011525341.2:c.1014A>G, XM_011525341.1:c.1014A>G, XM_011525334.3:c.1014A>G, XM_011525334.2:c.1014A>G, XM_011525334.1:c.1014A>G, XM_011525336.3:c.1014A>G, XM_011525336.2:c.1014A>G, XM_011525336.1:c.1014A>G, XM_047436892.1:c.1014A>G, XM_047436894.1:c.1014A>G, XM_047436891.1:c.1014A>G, XM_047436893.1:c.1014A>G, XM_047436899.1:c.1014A>G, XM_047436904.1:c.1014A>G, XM_047436900.1:c.1014A>G, XM_047436901.1:c.1014A>G, XM_047436895.1:c.1014A>G, XM_047436896.1:c.1014A>G, XM_047436897.1:c.1014A>G, XM_047436902.1:c.1014A>G, XM_047436903.1:c.1014A>G

    2.

    rs1490001091 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C,G [Show Flanks]
      Chromosome:
      17:61808673 (GRCh38)
      17:59886034 (GRCh37)
      Canonical SPDI:
      NC_000017.11:61808672:T:A,NC_000017.11:61808672:T:C,NC_000017.11:61808672:T:G
      Gene:
      BRIP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000068/3 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000007/1 (GnomAD)
      G=0.000011/3 (TOPMED)
      HGVS:
      NC_000017.11:g.61808673T>A, NC_000017.11:g.61808673T>C, NC_000017.11:g.61808673T>G, NC_000017.10:g.59886034T>A, NC_000017.10:g.59886034T>C, NC_000017.10:g.59886034T>G, NG_007409.2:g.59887A>T, NG_007409.2:g.59887A>G, NG_007409.2:g.59887A>C, NM_032043.3:c.712A>T, NM_032043.3:c.712A>G, NM_032043.3:c.712A>C, NM_032043.2:c.712A>T, NM_032043.2:c.712A>G, NM_032043.2:c.712A>C, XM_011525332.4:c.712A>T, XM_011525332.4:c.712A>G, XM_011525332.4:c.712A>C, XM_011525332.3:c.712A>T, XM_011525332.3:c.712A>G, XM_011525332.3:c.712A>C, XM_011525332.2:c.712A>T, XM_011525332.2:c.712A>G, XM_011525332.2:c.712A>C, XM_011525332.1:c.712A>T, XM_011525332.1:c.712A>G, XM_011525332.1:c.712A>C, XM_011525333.4:c.712A>T, XM_011525333.4:c.712A>G, XM_011525333.4:c.712A>C, XM_011525333.3:c.712A>T, XM_011525333.3:c.712A>G, XM_011525333.3:c.712A>C, XM_011525333.2:c.712A>T, XM_011525333.2:c.712A>G, XM_011525333.2:c.712A>C, XM_011525333.1:c.712A>T, XM_011525333.1:c.712A>G, XM_011525333.1:c.712A>C, XM_011525335.4:c.712A>T, XM_011525335.4:c.712A>G, XM_011525335.4:c.712A>C, XM_011525335.3:c.712A>T, XM_011525335.3:c.712A>G, XM_011525335.3:c.712A>C, XM_011525335.2:c.712A>T, XM_011525335.2:c.712A>G, XM_011525335.2:c.712A>C, XM_011525335.1:c.712A>T, XM_011525335.1:c.712A>G, XM_011525335.1:c.712A>C, XM_011525340.4:c.712A>T, XM_011525340.4:c.712A>G, XM_011525340.4:c.712A>C, XM_011525340.3:c.712A>T, XM_011525340.3:c.712A>G, XM_011525340.3:c.712A>C, XM_011525340.2:c.712A>T, XM_011525340.2:c.712A>G, XM_011525340.2:c.712A>C, XM_011525340.1:c.712A>T, XM_011525340.1:c.712A>G, XM_011525340.1:c.712A>C, XM_011525339.4:c.712A>T, XM_011525339.4:c.712A>G, XM_011525339.4:c.712A>C, XM_011525339.3:c.712A>T, XM_011525339.3:c.712A>G, XM_011525339.3:c.712A>C, XM_011525339.2:c.712A>T, XM_011525339.2:c.712A>G, XM_011525339.2:c.712A>C, XM_011525339.1:c.712A>T, XM_011525339.1:c.712A>G, XM_011525339.1:c.712A>C, XM_011525341.4:c.712A>T, XM_011525341.4:c.712A>G, XM_011525341.4:c.712A>C, XM_011525341.3:c.712A>T, XM_011525341.3:c.712A>G, XM_011525341.3:c.712A>C, XM_011525341.2:c.712A>T, XM_011525341.2:c.712A>G, XM_011525341.2:c.712A>C, XM_011525341.1:c.712A>T, XM_011525341.1:c.712A>G, XM_011525341.1:c.712A>C, XM_011525334.3:c.712A>T, XM_011525334.3:c.712A>G, XM_011525334.3:c.712A>C, XM_011525334.2:c.712A>T, XM_011525334.2:c.712A>G, XM_011525334.2:c.712A>C, XM_011525334.1:c.712A>T, XM_011525334.1:c.712A>G, XM_011525334.1:c.712A>C, XM_011525336.3:c.712A>T, XM_011525336.3:c.712A>G, XM_011525336.3:c.712A>C, XM_011525336.2:c.712A>T, XM_011525336.2:c.712A>G, XM_011525336.2:c.712A>C, XM_011525336.1:c.712A>T, XM_011525336.1:c.712A>G, XM_011525336.1:c.712A>C, XM_047436892.1:c.712A>T, XM_047436892.1:c.712A>G, XM_047436892.1:c.712A>C, XM_047436894.1:c.712A>T, XM_047436894.1:c.712A>G, XM_047436894.1:c.712A>C, XM_047436891.1:c.712A>T, XM_047436891.1:c.712A>G, XM_047436891.1:c.712A>C, XM_047436893.1:c.712A>T, XM_047436893.1:c.712A>G, XM_047436893.1:c.712A>C, XM_047436899.1:c.712A>T, XM_047436899.1:c.712A>G, XM_047436899.1:c.712A>C, XM_047436904.1:c.712A>T, XM_047436904.1:c.712A>G, XM_047436904.1:c.712A>C, XM_047436900.1:c.712A>T, XM_047436900.1:c.712A>G, XM_047436900.1:c.712A>C, XM_047436901.1:c.712A>T, XM_047436901.1:c.712A>G, XM_047436901.1:c.712A>C, XM_047436895.1:c.712A>T, XM_047436895.1:c.712A>G, XM_047436895.1:c.712A>C, XM_047436896.1:c.712A>T, XM_047436896.1:c.712A>G, XM_047436896.1:c.712A>C, XM_047436897.1:c.712A>T, XM_047436897.1:c.712A>G, XM_047436897.1:c.712A>C, XM_047436902.1:c.712A>T, XM_047436902.1:c.712A>G, XM_047436902.1:c.712A>C, XM_047436903.1:c.712A>T, XM_047436903.1:c.712A>G, XM_047436903.1:c.712A>C, NP_114432.2:p.Thr238Ser, NP_114432.2:p.Thr238Ala, NP_114432.2:p.Thr238Pro, XP_011523634.1:p.Thr238Ser, XP_011523634.1:p.Thr238Ala, XP_011523634.1:p.Thr238Pro, XP_011523635.1:p.Thr238Ser, XP_011523635.1:p.Thr238Ala, XP_011523635.1:p.Thr238Pro, XP_011523637.1:p.Thr238Ser, XP_011523637.1:p.Thr238Ala, XP_011523637.1:p.Thr238Pro, XP_011523642.1:p.Thr238Ser, XP_011523642.1:p.Thr238Ala, XP_011523642.1:p.Thr238Pro, XP_011523641.1:p.Thr238Ser, XP_011523641.1:p.Thr238Ala, XP_011523641.1:p.Thr238Pro, XP_011523643.1:p.Thr238Ser, XP_011523643.1:p.Thr238Ala, XP_011523643.1:p.Thr238Pro, XP_011523636.1:p.Thr238Ser, XP_011523636.1:p.Thr238Ala, XP_011523636.1:p.Thr238Pro, XP_011523638.1:p.Thr238Ser, XP_011523638.1:p.Thr238Ala, XP_011523638.1:p.Thr238Pro, XP_047292848.1:p.Thr238Ser, XP_047292848.1:p.Thr238Ala, XP_047292848.1:p.Thr238Pro, XP_047292850.1:p.Thr238Ser, XP_047292850.1:p.Thr238Ala, XP_047292850.1:p.Thr238Pro, XP_047292847.1:p.Thr238Ser, XP_047292847.1:p.Thr238Ala, XP_047292847.1:p.Thr238Pro, XP_047292849.1:p.Thr238Ser, XP_047292849.1:p.Thr238Ala, XP_047292849.1:p.Thr238Pro, XP_047292855.1:p.Thr238Ser, XP_047292855.1:p.Thr238Ala, XP_047292855.1:p.Thr238Pro, XP_047292860.1:p.Thr238Ser, XP_047292860.1:p.Thr238Ala, XP_047292860.1:p.Thr238Pro, XP_047292856.1:p.Thr238Ser, XP_047292856.1:p.Thr238Ala, XP_047292856.1:p.Thr238Pro, XP_047292857.1:p.Thr238Ser, XP_047292857.1:p.Thr238Ala, XP_047292857.1:p.Thr238Pro, XP_047292851.1:p.Thr238Ser, XP_047292851.1:p.Thr238Ala, XP_047292851.1:p.Thr238Pro, XP_047292852.1:p.Thr238Ser, XP_047292852.1:p.Thr238Ala, XP_047292852.1:p.Thr238Pro, XP_047292853.1:p.Thr238Ser, XP_047292853.1:p.Thr238Ala, XP_047292853.1:p.Thr238Pro, XP_047292858.1:p.Thr238Ser, XP_047292858.1:p.Thr238Ala, XP_047292858.1:p.Thr238Pro, XP_047292859.1:p.Thr238Ser, XP_047292859.1:p.Thr238Ala, XP_047292859.1:p.Thr238Pro

      3.

      rs1489355776 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        17:61801286 (GRCh38)
        17:59878647 (GRCh37)
        Canonical SPDI:
        NC_000017.11:61801285:G:A,NC_000017.11:61801285:G:C,NC_000017.11:61801285:G:T
        Gene:
        BRIP1 (Varview)
        Functional Consequence:
        stop_gained,synonymous_variant,coding_sequence_variant
        Clinical significance:
        pathogenic,likely-benign
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.61801286G>A, NC_000017.11:g.61801286G>C, NC_000017.11:g.61801286G>T, NC_000017.10:g.59878647G>A, NC_000017.10:g.59878647G>C, NC_000017.10:g.59878647G>T, NG_007409.2:g.67274C>T, NG_007409.2:g.67274C>G, NG_007409.2:g.67274C>A, NM_032043.3:c.1107C>T, NM_032043.3:c.1107C>G, NM_032043.3:c.1107C>A, NM_032043.2:c.1107C>T, NM_032043.2:c.1107C>G, NM_032043.2:c.1107C>A, XM_011525332.4:c.1107C>T, XM_011525332.4:c.1107C>G, XM_011525332.4:c.1107C>A, XM_011525332.3:c.1107C>T, XM_011525332.3:c.1107C>G, XM_011525332.3:c.1107C>A, XM_011525332.2:c.1107C>T, XM_011525332.2:c.1107C>G, XM_011525332.2:c.1107C>A, XM_011525332.1:c.1107C>T, XM_011525332.1:c.1107C>G, XM_011525332.1:c.1107C>A, XM_011525333.4:c.1107C>T, XM_011525333.4:c.1107C>G, XM_011525333.4:c.1107C>A, XM_011525333.3:c.1107C>T, XM_011525333.3:c.1107C>G, XM_011525333.3:c.1107C>A, XM_011525333.2:c.1107C>T, XM_011525333.2:c.1107C>G, XM_011525333.2:c.1107C>A, XM_011525333.1:c.1107C>T, XM_011525333.1:c.1107C>G, XM_011525333.1:c.1107C>A, XM_011525335.4:c.1107C>T, XM_011525335.4:c.1107C>G, XM_011525335.4:c.1107C>A, XM_011525335.3:c.1107C>T, XM_011525335.3:c.1107C>G, XM_011525335.3:c.1107C>A, XM_011525335.2:c.1107C>T, XM_011525335.2:c.1107C>G, XM_011525335.2:c.1107C>A, XM_011525335.1:c.1107C>T, XM_011525335.1:c.1107C>G, XM_011525335.1:c.1107C>A, XM_011525340.4:c.1107C>T, XM_011525340.4:c.1107C>G, XM_011525340.4:c.1107C>A, XM_011525340.3:c.1107C>T, XM_011525340.3:c.1107C>G, XM_011525340.3:c.1107C>A, XM_011525340.2:c.1107C>T, XM_011525340.2:c.1107C>G, XM_011525340.2:c.1107C>A, XM_011525340.1:c.1107C>T, XM_011525340.1:c.1107C>G, XM_011525340.1:c.1107C>A, XM_011525339.4:c.1107C>T, XM_011525339.4:c.1107C>G, XM_011525339.4:c.1107C>A, XM_011525339.3:c.1107C>T, XM_011525339.3:c.1107C>G, XM_011525339.3:c.1107C>A, XM_011525339.2:c.1107C>T, XM_011525339.2:c.1107C>G, XM_011525339.2:c.1107C>A, XM_011525339.1:c.1107C>T, XM_011525339.1:c.1107C>G, XM_011525339.1:c.1107C>A, XM_011525341.4:c.1107C>T, XM_011525341.4:c.1107C>G, XM_011525341.4:c.1107C>A, XM_011525341.3:c.1107C>T, XM_011525341.3:c.1107C>G, XM_011525341.3:c.1107C>A, XM_011525341.2:c.1107C>T, XM_011525341.2:c.1107C>G, XM_011525341.2:c.1107C>A, XM_011525341.1:c.1107C>T, XM_011525341.1:c.1107C>G, XM_011525341.1:c.1107C>A, XM_011525334.3:c.1107C>T, XM_011525334.3:c.1107C>G, XM_011525334.3:c.1107C>A, XM_011525334.2:c.1107C>T, XM_011525334.2:c.1107C>G, XM_011525334.2:c.1107C>A, XM_011525334.1:c.1107C>T, XM_011525334.1:c.1107C>G, XM_011525334.1:c.1107C>A, XM_011525336.3:c.1107C>T, XM_011525336.3:c.1107C>G, XM_011525336.3:c.1107C>A, XM_011525336.2:c.1107C>T, XM_011525336.2:c.1107C>G, XM_011525336.2:c.1107C>A, XM_011525336.1:c.1107C>T, XM_011525336.1:c.1107C>G, XM_011525336.1:c.1107C>A, XM_047436892.1:c.1107C>T, XM_047436892.1:c.1107C>G, XM_047436892.1:c.1107C>A, XM_047436894.1:c.1107C>T, XM_047436894.1:c.1107C>G, XM_047436894.1:c.1107C>A, XM_047436891.1:c.1107C>T, XM_047436891.1:c.1107C>G, XM_047436891.1:c.1107C>A, XM_047436893.1:c.1107C>T, XM_047436893.1:c.1107C>G, XM_047436893.1:c.1107C>A, XM_047436899.1:c.1107C>T, XM_047436899.1:c.1107C>G, XM_047436899.1:c.1107C>A, XM_047436904.1:c.1107C>T, XM_047436904.1:c.1107C>G, XM_047436904.1:c.1107C>A, XM_047436900.1:c.1107C>T, XM_047436900.1:c.1107C>G, XM_047436900.1:c.1107C>A, XM_047436901.1:c.1107C>T, XM_047436901.1:c.1107C>G, XM_047436901.1:c.1107C>A, XM_047436895.1:c.1107C>T, XM_047436895.1:c.1107C>G, XM_047436895.1:c.1107C>A, XM_047436896.1:c.1107C>T, XM_047436896.1:c.1107C>G, XM_047436896.1:c.1107C>A, XM_047436897.1:c.1107C>T, XM_047436897.1:c.1107C>G, XM_047436897.1:c.1107C>A, XM_047436902.1:c.1107C>T, XM_047436902.1:c.1107C>G, XM_047436902.1:c.1107C>A, XM_047436903.1:c.1107C>T, XM_047436903.1:c.1107C>G, XM_047436903.1:c.1107C>A, NP_114432.2:p.Tyr369Ter, NP_114432.2:p.Tyr369Ter, XP_011523634.1:p.Tyr369Ter, XP_011523634.1:p.Tyr369Ter, XP_011523635.1:p.Tyr369Ter, XP_011523635.1:p.Tyr369Ter, XP_011523637.1:p.Tyr369Ter, XP_011523637.1:p.Tyr369Ter, XP_011523642.1:p.Tyr369Ter, XP_011523642.1:p.Tyr369Ter, XP_011523641.1:p.Tyr369Ter, XP_011523641.1:p.Tyr369Ter, XP_011523643.1:p.Tyr369Ter, XP_011523643.1:p.Tyr369Ter, XP_011523636.1:p.Tyr369Ter, XP_011523636.1:p.Tyr369Ter, XP_011523638.1:p.Tyr369Ter, XP_011523638.1:p.Tyr369Ter, XP_047292848.1:p.Tyr369Ter, XP_047292848.1:p.Tyr369Ter, XP_047292850.1:p.Tyr369Ter, XP_047292850.1:p.Tyr369Ter, XP_047292847.1:p.Tyr369Ter, XP_047292847.1:p.Tyr369Ter, XP_047292849.1:p.Tyr369Ter, XP_047292849.1:p.Tyr369Ter, XP_047292855.1:p.Tyr369Ter, XP_047292855.1:p.Tyr369Ter, XP_047292860.1:p.Tyr369Ter, XP_047292860.1:p.Tyr369Ter, XP_047292856.1:p.Tyr369Ter, XP_047292856.1:p.Tyr369Ter, XP_047292857.1:p.Tyr369Ter, XP_047292857.1:p.Tyr369Ter, XP_047292851.1:p.Tyr369Ter, XP_047292851.1:p.Tyr369Ter, XP_047292852.1:p.Tyr369Ter, XP_047292852.1:p.Tyr369Ter, XP_047292853.1:p.Tyr369Ter, XP_047292853.1:p.Tyr369Ter, XP_047292858.1:p.Tyr369Ter, XP_047292858.1:p.Tyr369Ter, XP_047292859.1:p.Tyr369Ter, XP_047292859.1:p.Tyr369Ter

        4.

        rs1488264110 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          17:61861503 (GRCh38)
          17:59938864 (GRCh37)
          Canonical SPDI:
          NC_000017.11:61861502:C:A,NC_000017.11:61861502:C:G,NC_000017.11:61861502:C:T
          Gene:
          BRIP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.61861503C>A, NC_000017.11:g.61861503C>G, NC_000017.11:g.61861503C>T, NC_000017.10:g.59938864C>A, NC_000017.10:g.59938864C>G, NC_000017.10:g.59938864C>T, NG_007409.2:g.7057G>T, NG_007409.2:g.7057G>C, NG_007409.2:g.7057G>A, NM_032043.3:c.37G>T, NM_032043.3:c.37G>C, NM_032043.3:c.37G>A, NM_032043.2:c.37G>T, NM_032043.2:c.37G>C, NM_032043.2:c.37G>A, XM_011525332.4:c.37G>T, XM_011525332.4:c.37G>C, XM_011525332.4:c.37G>A, XM_011525332.3:c.37G>T, XM_011525332.3:c.37G>C, XM_011525332.3:c.37G>A, XM_011525332.2:c.37G>T, XM_011525332.2:c.37G>C, XM_011525332.2:c.37G>A, XM_011525332.1:c.37G>T, XM_011525332.1:c.37G>C, XM_011525332.1:c.37G>A, XM_011525333.4:c.37G>T, XM_011525333.4:c.37G>C, XM_011525333.4:c.37G>A, XM_011525333.3:c.37G>T, XM_011525333.3:c.37G>C, XM_011525333.3:c.37G>A, XM_011525333.2:c.37G>T, XM_011525333.2:c.37G>C, XM_011525333.2:c.37G>A, XM_011525333.1:c.37G>T, XM_011525333.1:c.37G>C, XM_011525333.1:c.37G>A, XM_011525335.4:c.37G>T, XM_011525335.4:c.37G>C, XM_011525335.4:c.37G>A, XM_011525335.3:c.37G>T, XM_011525335.3:c.37G>C, XM_011525335.3:c.37G>A, XM_011525335.2:c.37G>T, XM_011525335.2:c.37G>C, XM_011525335.2:c.37G>A, XM_011525335.1:c.37G>T, XM_011525335.1:c.37G>C, XM_011525335.1:c.37G>A, XM_011525340.4:c.37G>T, XM_011525340.4:c.37G>C, XM_011525340.4:c.37G>A, XM_011525340.3:c.37G>T, XM_011525340.3:c.37G>C, XM_011525340.3:c.37G>A, XM_011525340.2:c.37G>T, XM_011525340.2:c.37G>C, XM_011525340.2:c.37G>A, XM_011525340.1:c.37G>T, XM_011525340.1:c.37G>C, XM_011525340.1:c.37G>A, XM_011525339.4:c.37G>T, XM_011525339.4:c.37G>C, XM_011525339.4:c.37G>A, XM_011525339.3:c.37G>T, XM_011525339.3:c.37G>C, XM_011525339.3:c.37G>A, XM_011525339.2:c.37G>T, XM_011525339.2:c.37G>C, XM_011525339.2:c.37G>A, XM_011525339.1:c.37G>T, XM_011525339.1:c.37G>C, XM_011525339.1:c.37G>A, XM_011525341.4:c.37G>T, XM_011525341.4:c.37G>C, XM_011525341.4:c.37G>A, XM_011525341.3:c.37G>T, XM_011525341.3:c.37G>C, XM_011525341.3:c.37G>A, XM_011525341.2:c.37G>T, XM_011525341.2:c.37G>C, XM_011525341.2:c.37G>A, XM_011525341.1:c.37G>T, XM_011525341.1:c.37G>C, XM_011525341.1:c.37G>A, XM_011525334.3:c.37G>T, XM_011525334.3:c.37G>C, XM_011525334.3:c.37G>A, XM_011525334.2:c.37G>T, XM_011525334.2:c.37G>C, XM_011525334.2:c.37G>A, XM_011525334.1:c.37G>T, XM_011525334.1:c.37G>C, XM_011525334.1:c.37G>A, XM_011525336.3:c.37G>T, XM_011525336.3:c.37G>C, XM_011525336.3:c.37G>A, XM_011525336.2:c.37G>T, XM_011525336.2:c.37G>C, XM_011525336.2:c.37G>A, XM_011525336.1:c.37G>T, XM_011525336.1:c.37G>C, XM_011525336.1:c.37G>A, XM_047436892.1:c.37G>T, XM_047436892.1:c.37G>C, XM_047436892.1:c.37G>A, XM_047436894.1:c.37G>T, XM_047436894.1:c.37G>C, XM_047436894.1:c.37G>A, XM_047436891.1:c.37G>T, XM_047436891.1:c.37G>C, XM_047436891.1:c.37G>A, XM_047436893.1:c.37G>T, XM_047436893.1:c.37G>C, XM_047436893.1:c.37G>A, XM_047436899.1:c.37G>T, XM_047436899.1:c.37G>C, XM_047436899.1:c.37G>A, XM_047436904.1:c.37G>T, XM_047436904.1:c.37G>C, XM_047436904.1:c.37G>A, XM_047436900.1:c.37G>T, XM_047436900.1:c.37G>C, XM_047436900.1:c.37G>A, XM_047436901.1:c.37G>T, XM_047436901.1:c.37G>C, XM_047436901.1:c.37G>A, XM_047436895.1:c.37G>T, XM_047436895.1:c.37G>C, XM_047436895.1:c.37G>A, XM_047436896.1:c.37G>T, XM_047436896.1:c.37G>C, XM_047436896.1:c.37G>A, XM_047436897.1:c.37G>T, XM_047436897.1:c.37G>C, XM_047436897.1:c.37G>A, XM_047436902.1:c.37G>T, XM_047436902.1:c.37G>C, XM_047436902.1:c.37G>A, XM_047436903.1:c.37G>T, XM_047436903.1:c.37G>C, XM_047436903.1:c.37G>A, NP_114432.2:p.Val13Leu, NP_114432.2:p.Val13Leu, NP_114432.2:p.Val13Met, XP_011523634.1:p.Val13Leu, XP_011523634.1:p.Val13Leu, XP_011523634.1:p.Val13Met, XP_011523635.1:p.Val13Leu, XP_011523635.1:p.Val13Leu, XP_011523635.1:p.Val13Met, XP_011523637.1:p.Val13Leu, XP_011523637.1:p.Val13Leu, XP_011523637.1:p.Val13Met, XP_011523642.1:p.Val13Leu, XP_011523642.1:p.Val13Leu, XP_011523642.1:p.Val13Met, XP_011523641.1:p.Val13Leu, XP_011523641.1:p.Val13Leu, XP_011523641.1:p.Val13Met, XP_011523643.1:p.Val13Leu, XP_011523643.1:p.Val13Leu, XP_011523643.1:p.Val13Met, XP_011523636.1:p.Val13Leu, XP_011523636.1:p.Val13Leu, XP_011523636.1:p.Val13Met, XP_011523638.1:p.Val13Leu, XP_011523638.1:p.Val13Leu, XP_011523638.1:p.Val13Met, XP_047292848.1:p.Val13Leu, XP_047292848.1:p.Val13Leu, XP_047292848.1:p.Val13Met, XP_047292850.1:p.Val13Leu, XP_047292850.1:p.Val13Leu, XP_047292850.1:p.Val13Met, XP_047292847.1:p.Val13Leu, XP_047292847.1:p.Val13Leu, XP_047292847.1:p.Val13Met, XP_047292849.1:p.Val13Leu, XP_047292849.1:p.Val13Leu, XP_047292849.1:p.Val13Met, XP_047292855.1:p.Val13Leu, XP_047292855.1:p.Val13Leu, XP_047292855.1:p.Val13Met, XP_047292860.1:p.Val13Leu, XP_047292860.1:p.Val13Leu, XP_047292860.1:p.Val13Met, XP_047292856.1:p.Val13Leu, XP_047292856.1:p.Val13Leu, XP_047292856.1:p.Val13Met, XP_047292857.1:p.Val13Leu, XP_047292857.1:p.Val13Leu, XP_047292857.1:p.Val13Met, XP_047292851.1:p.Val13Leu, XP_047292851.1:p.Val13Leu, XP_047292851.1:p.Val13Met, XP_047292852.1:p.Val13Leu, XP_047292852.1:p.Val13Leu, XP_047292852.1:p.Val13Met, XP_047292853.1:p.Val13Leu, XP_047292853.1:p.Val13Leu, XP_047292853.1:p.Val13Met, XP_047292858.1:p.Val13Leu, XP_047292858.1:p.Val13Leu, XP_047292858.1:p.Val13Met, XP_047292859.1:p.Val13Leu, XP_047292859.1:p.Val13Leu, XP_047292859.1:p.Val13Met

          5.

          rs1484783363 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:61847127 (GRCh38)
            17:59924488 (GRCh37)
            Canonical SPDI:
            NC_000017.11:61847126:T:C
            Gene:
            BRIP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.61847127T>C, NC_000017.10:g.59924488T>C, NG_007409.2:g.21433A>G, NM_032043.3:c.601A>G, NM_032043.2:c.601A>G, XM_011525332.4:c.601A>G, XM_011525332.3:c.601A>G, XM_011525332.2:c.601A>G, XM_011525332.1:c.601A>G, XM_011525333.4:c.601A>G, XM_011525333.3:c.601A>G, XM_011525333.2:c.601A>G, XM_011525333.1:c.601A>G, XM_011525335.4:c.601A>G, XM_011525335.3:c.601A>G, XM_011525335.2:c.601A>G, XM_011525335.1:c.601A>G, XM_011525340.4:c.601A>G, XM_011525340.3:c.601A>G, XM_011525340.2:c.601A>G, XM_011525340.1:c.601A>G, XM_011525339.4:c.601A>G, XM_011525339.3:c.601A>G, XM_011525339.2:c.601A>G, XM_011525339.1:c.601A>G, XM_011525341.4:c.601A>G, XM_011525341.3:c.601A>G, XM_011525341.2:c.601A>G, XM_011525341.1:c.601A>G, XM_011525334.3:c.601A>G, XM_011525334.2:c.601A>G, XM_011525334.1:c.601A>G, XM_011525336.3:c.601A>G, XM_011525336.2:c.601A>G, XM_011525336.1:c.601A>G, XM_047436892.1:c.601A>G, XM_047436894.1:c.601A>G, XM_047436891.1:c.601A>G, XM_047436893.1:c.601A>G, XM_047436899.1:c.601A>G, XM_047436904.1:c.601A>G, XM_047436900.1:c.601A>G, XM_047436901.1:c.601A>G, XM_047436895.1:c.601A>G, XM_047436896.1:c.601A>G, XM_047436897.1:c.601A>G, XM_047436902.1:c.601A>G, XM_047436903.1:c.601A>G, NP_114432.2:p.Lys201Glu, XP_011523634.1:p.Lys201Glu, XP_011523635.1:p.Lys201Glu, XP_011523637.1:p.Lys201Glu, XP_011523642.1:p.Lys201Glu, XP_011523641.1:p.Lys201Glu, XP_011523643.1:p.Lys201Glu, XP_011523636.1:p.Lys201Glu, XP_011523638.1:p.Lys201Glu, XP_047292848.1:p.Lys201Glu, XP_047292850.1:p.Lys201Glu, XP_047292847.1:p.Lys201Glu, XP_047292849.1:p.Lys201Glu, XP_047292855.1:p.Lys201Glu, XP_047292860.1:p.Lys201Glu, XP_047292856.1:p.Lys201Glu, XP_047292857.1:p.Lys201Glu, XP_047292851.1:p.Lys201Glu, XP_047292852.1:p.Lys201Glu, XP_047292853.1:p.Lys201Glu, XP_047292858.1:p.Lys201Glu, XP_047292859.1:p.Lys201Glu

            6.

            rs1484320639 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C,G [Show Flanks]
              Chromosome:
              17:61799174 (GRCh38)
              17:59876535 (GRCh37)
              Canonical SPDI:
              NC_000017.11:61799173:T:A,NC_000017.11:61799173:T:C,NC_000017.11:61799173:T:G
              Gene:
              BRIP1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.61799174T>A, NC_000017.11:g.61799174T>C, NC_000017.11:g.61799174T>G, NC_000017.10:g.59876535T>A, NC_000017.10:g.59876535T>C, NC_000017.10:g.59876535T>G, NG_007409.2:g.69386A>T, NG_007409.2:g.69386A>G, NG_007409.2:g.69386A>C, NM_032043.3:c.1266A>T, NM_032043.3:c.1266A>G, NM_032043.3:c.1266A>C, NM_032043.2:c.1266A>T, NM_032043.2:c.1266A>G, NM_032043.2:c.1266A>C, XM_011525332.4:c.1266A>T, XM_011525332.4:c.1266A>G, XM_011525332.4:c.1266A>C, XM_011525332.3:c.1266A>T, XM_011525332.3:c.1266A>G, XM_011525332.3:c.1266A>C, XM_011525332.2:c.1266A>T, XM_011525332.2:c.1266A>G, XM_011525332.2:c.1266A>C, XM_011525332.1:c.1266A>T, XM_011525332.1:c.1266A>G, XM_011525332.1:c.1266A>C, XM_011525333.4:c.1266A>T, XM_011525333.4:c.1266A>G, XM_011525333.4:c.1266A>C, XM_011525333.3:c.1266A>T, XM_011525333.3:c.1266A>G, XM_011525333.3:c.1266A>C, XM_011525333.2:c.1266A>T, XM_011525333.2:c.1266A>G, XM_011525333.2:c.1266A>C, XM_011525333.1:c.1266A>T, XM_011525333.1:c.1266A>G, XM_011525333.1:c.1266A>C, XM_011525335.4:c.1266A>T, XM_011525335.4:c.1266A>G, XM_011525335.4:c.1266A>C, XM_011525335.3:c.1266A>T, XM_011525335.3:c.1266A>G, XM_011525335.3:c.1266A>C, XM_011525335.2:c.1266A>T, XM_011525335.2:c.1266A>G, XM_011525335.2:c.1266A>C, XM_011525335.1:c.1266A>T, XM_011525335.1:c.1266A>G, XM_011525335.1:c.1266A>C, XM_011525340.4:c.1266A>T, XM_011525340.4:c.1266A>G, XM_011525340.4:c.1266A>C, XM_011525340.3:c.1266A>T, XM_011525340.3:c.1266A>G, XM_011525340.3:c.1266A>C, XM_011525340.2:c.1266A>T, XM_011525340.2:c.1266A>G, XM_011525340.2:c.1266A>C, XM_011525340.1:c.1266A>T, XM_011525340.1:c.1266A>G, XM_011525340.1:c.1266A>C, XM_011525339.4:c.1266A>T, XM_011525339.4:c.1266A>G, XM_011525339.4:c.1266A>C, XM_011525339.3:c.1266A>T, XM_011525339.3:c.1266A>G, XM_011525339.3:c.1266A>C, XM_011525339.2:c.1266A>T, XM_011525339.2:c.1266A>G, XM_011525339.2:c.1266A>C, XM_011525339.1:c.1266A>T, XM_011525339.1:c.1266A>G, XM_011525339.1:c.1266A>C, XM_011525341.4:c.1266A>T, XM_011525341.4:c.1266A>G, XM_011525341.4:c.1266A>C, XM_011525341.3:c.1266A>T, XM_011525341.3:c.1266A>G, XM_011525341.3:c.1266A>C, XM_011525341.2:c.1266A>T, XM_011525341.2:c.1266A>G, XM_011525341.2:c.1266A>C, XM_011525341.1:c.1266A>T, XM_011525341.1:c.1266A>G, XM_011525341.1:c.1266A>C, XM_011525334.3:c.1266A>T, XM_011525334.3:c.1266A>G, XM_011525334.3:c.1266A>C, XM_011525334.2:c.1266A>T, XM_011525334.2:c.1266A>G, XM_011525334.2:c.1266A>C, XM_011525334.1:c.1266A>T, XM_011525334.1:c.1266A>G, XM_011525334.1:c.1266A>C, XM_011525336.3:c.1266A>T, XM_011525336.3:c.1266A>G, XM_011525336.3:c.1266A>C, XM_011525336.2:c.1266A>T, XM_011525336.2:c.1266A>G, XM_011525336.2:c.1266A>C, XM_011525336.1:c.1266A>T, XM_011525336.1:c.1266A>G, XM_011525336.1:c.1266A>C, XM_047436892.1:c.1266A>T, XM_047436892.1:c.1266A>G, XM_047436892.1:c.1266A>C, XM_047436894.1:c.1266A>T, XM_047436894.1:c.1266A>G, XM_047436894.1:c.1266A>C, XM_047436891.1:c.1266A>T, XM_047436891.1:c.1266A>G, XM_047436891.1:c.1266A>C, XM_047436893.1:c.1266A>T, XM_047436893.1:c.1266A>G, XM_047436893.1:c.1266A>C, XM_047436899.1:c.1266A>T, XM_047436899.1:c.1266A>G, XM_047436899.1:c.1266A>C, XM_047436904.1:c.1266A>T, XM_047436904.1:c.1266A>G, XM_047436904.1:c.1266A>C, XM_047436900.1:c.1266A>T, XM_047436900.1:c.1266A>G, XM_047436900.1:c.1266A>C, XM_047436901.1:c.1266A>T, XM_047436901.1:c.1266A>G, XM_047436901.1:c.1266A>C, XM_047436895.1:c.1266A>T, XM_047436895.1:c.1266A>G, XM_047436895.1:c.1266A>C, XM_047436896.1:c.1266A>T, XM_047436896.1:c.1266A>G, XM_047436896.1:c.1266A>C, XM_047436897.1:c.1266A>T, XM_047436897.1:c.1266A>G, XM_047436897.1:c.1266A>C, XM_047436902.1:c.1266A>T, XM_047436902.1:c.1266A>G, XM_047436902.1:c.1266A>C, XM_047436903.1:c.1266A>T, XM_047436903.1:c.1266A>G, XM_047436903.1:c.1266A>C

              7.

              rs1484234707 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                17:61857132 (GRCh38)
                17:59934493 (GRCh37)
                Canonical SPDI:
                NC_000017.11:61857131:T:A,NC_000017.11:61857131:T:C
                Gene:
                BRIP1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0./0 (KOREAN)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000017.11:g.61857132T>A, NC_000017.11:g.61857132T>C, NC_000017.10:g.59934493T>A, NC_000017.10:g.59934493T>C, NG_007409.2:g.11428A>T, NG_007409.2:g.11428A>G, NM_032043.3:c.305A>T, NM_032043.3:c.305A>G, NM_032043.2:c.305A>T, NM_032043.2:c.305A>G, XM_011525332.4:c.305A>T, XM_011525332.4:c.305A>G, XM_011525332.3:c.305A>T, XM_011525332.3:c.305A>G, XM_011525332.2:c.305A>T, XM_011525332.2:c.305A>G, XM_011525332.1:c.305A>T, XM_011525332.1:c.305A>G, XM_011525333.4:c.305A>T, XM_011525333.4:c.305A>G, XM_011525333.3:c.305A>T, XM_011525333.3:c.305A>G, XM_011525333.2:c.305A>T, XM_011525333.2:c.305A>G, XM_011525333.1:c.305A>T, XM_011525333.1:c.305A>G, XM_011525335.4:c.305A>T, XM_011525335.4:c.305A>G, XM_011525335.3:c.305A>T, XM_011525335.3:c.305A>G, XM_011525335.2:c.305A>T, XM_011525335.2:c.305A>G, XM_011525335.1:c.305A>T, XM_011525335.1:c.305A>G, XM_011525340.4:c.305A>T, XM_011525340.4:c.305A>G, XM_011525340.3:c.305A>T, XM_011525340.3:c.305A>G, XM_011525340.2:c.305A>T, XM_011525340.2:c.305A>G, XM_011525340.1:c.305A>T, XM_011525340.1:c.305A>G, XM_011525339.4:c.305A>T, XM_011525339.4:c.305A>G, XM_011525339.3:c.305A>T, XM_011525339.3:c.305A>G, XM_011525339.2:c.305A>T, XM_011525339.2:c.305A>G, XM_011525339.1:c.305A>T, XM_011525339.1:c.305A>G, XM_011525341.4:c.305A>T, XM_011525341.4:c.305A>G, XM_011525341.3:c.305A>T, XM_011525341.3:c.305A>G, XM_011525341.2:c.305A>T, XM_011525341.2:c.305A>G, XM_011525341.1:c.305A>T, XM_011525341.1:c.305A>G, XM_011525334.3:c.305A>T, XM_011525334.3:c.305A>G, XM_011525334.2:c.305A>T, XM_011525334.2:c.305A>G, XM_011525334.1:c.305A>T, XM_011525334.1:c.305A>G, XM_011525336.3:c.305A>T, XM_011525336.3:c.305A>G, XM_011525336.2:c.305A>T, XM_011525336.2:c.305A>G, XM_011525336.1:c.305A>T, XM_011525336.1:c.305A>G, XM_047436892.1:c.305A>T, XM_047436892.1:c.305A>G, XM_047436894.1:c.305A>T, XM_047436894.1:c.305A>G, XM_047436891.1:c.305A>T, XM_047436891.1:c.305A>G, XM_047436893.1:c.305A>T, XM_047436893.1:c.305A>G, XM_047436899.1:c.305A>T, XM_047436899.1:c.305A>G, XM_047436904.1:c.305A>T, XM_047436904.1:c.305A>G, XM_047436900.1:c.305A>T, XM_047436900.1:c.305A>G, XM_047436901.1:c.305A>T, XM_047436901.1:c.305A>G, XM_047436895.1:c.305A>T, XM_047436895.1:c.305A>G, XM_047436896.1:c.305A>T, XM_047436896.1:c.305A>G, XM_047436897.1:c.305A>T, XM_047436897.1:c.305A>G, XM_047436902.1:c.305A>T, XM_047436902.1:c.305A>G, XM_047436903.1:c.305A>T, XM_047436903.1:c.305A>G, NP_114432.2:p.Gln102Leu, NP_114432.2:p.Gln102Arg, XP_011523634.1:p.Gln102Leu, XP_011523634.1:p.Gln102Arg, XP_011523635.1:p.Gln102Leu, XP_011523635.1:p.Gln102Arg, XP_011523637.1:p.Gln102Leu, XP_011523637.1:p.Gln102Arg, XP_011523642.1:p.Gln102Leu, XP_011523642.1:p.Gln102Arg, XP_011523641.1:p.Gln102Leu, XP_011523641.1:p.Gln102Arg, XP_011523643.1:p.Gln102Leu, XP_011523643.1:p.Gln102Arg, XP_011523636.1:p.Gln102Leu, XP_011523636.1:p.Gln102Arg, XP_011523638.1:p.Gln102Leu, XP_011523638.1:p.Gln102Arg, XP_047292848.1:p.Gln102Leu, XP_047292848.1:p.Gln102Arg, XP_047292850.1:p.Gln102Leu, XP_047292850.1:p.Gln102Arg, XP_047292847.1:p.Gln102Leu, XP_047292847.1:p.Gln102Arg, XP_047292849.1:p.Gln102Leu, XP_047292849.1:p.Gln102Arg, XP_047292855.1:p.Gln102Leu, XP_047292855.1:p.Gln102Arg, XP_047292860.1:p.Gln102Leu, XP_047292860.1:p.Gln102Arg, XP_047292856.1:p.Gln102Leu, XP_047292856.1:p.Gln102Arg, XP_047292857.1:p.Gln102Leu, XP_047292857.1:p.Gln102Arg, XP_047292851.1:p.Gln102Leu, XP_047292851.1:p.Gln102Arg, XP_047292852.1:p.Gln102Leu, XP_047292852.1:p.Gln102Arg, XP_047292853.1:p.Gln102Leu, XP_047292853.1:p.Gln102Arg, XP_047292858.1:p.Gln102Leu, XP_047292858.1:p.Gln102Arg, XP_047292859.1:p.Gln102Leu, XP_047292859.1:p.Gln102Arg

                8.

                rs1481800958 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  17:61780915 (GRCh38)
                  17:59858276 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:61780914:T:G
                  Gene:
                  BRIP1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.61780915T>G, NC_000017.10:g.59858276T>G, NG_007409.2:g.87645A>C, NM_032043.3:c.1719A>C, NM_032043.2:c.1719A>C, XM_011525332.4:c.1719A>C, XM_011525332.3:c.1719A>C, XM_011525332.2:c.1719A>C, XM_011525332.1:c.1719A>C, XM_011525333.4:c.1719A>C, XM_011525333.3:c.1719A>C, XM_011525333.2:c.1719A>C, XM_011525333.1:c.1719A>C, XM_011525335.4:c.1719A>C, XM_011525335.3:c.1719A>C, XM_011525335.2:c.1719A>C, XM_011525335.1:c.1719A>C, XM_011525340.4:c.1719A>C, XM_011525340.3:c.1719A>C, XM_011525340.2:c.1719A>C, XM_011525340.1:c.1719A>C, XM_011525339.4:c.1719A>C, XM_011525339.3:c.1719A>C, XM_011525339.2:c.1719A>C, XM_011525339.1:c.1719A>C, XM_011525341.4:c.1719A>C, XM_011525341.3:c.1719A>C, XM_011525341.2:c.1719A>C, XM_011525341.1:c.1719A>C, XM_011525334.3:c.1719A>C, XM_011525334.2:c.1719A>C, XM_011525334.1:c.1719A>C, XM_011525336.3:c.1719A>C, XM_011525336.2:c.1719A>C, XM_011525336.1:c.1719A>C, XM_047436892.1:c.1719A>C, XM_047436894.1:c.1719A>C, XM_047436891.1:c.1719A>C, XM_047436893.1:c.1719A>C, XM_047436899.1:c.1719A>C, XM_047436904.1:c.1719A>C, XM_047436900.1:c.1719A>C, XM_047436901.1:c.1719A>C, XM_047436895.1:c.1719A>C, XM_047436896.1:c.1719A>C, XM_047436897.1:c.1719A>C, XM_047436902.1:c.1719A>C, XM_047436903.1:c.1719A>C

                  9.

                  rs1481107855 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G,T [Show Flanks]
                    Chromosome:
                    17:61744568 (GRCh38)
                    17:59821929 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:61744567:A:C,NC_000017.11:61744567:A:G,NC_000017.11:61744567:A:T
                    Gene:
                    BRIP1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance,likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000017.11:g.61744568A>C, NC_000017.11:g.61744568A>G, NC_000017.11:g.61744568A>T, NC_000017.10:g.59821929A>C, NC_000017.10:g.59821929A>G, NC_000017.10:g.59821929A>T, NG_007409.2:g.123992T>G, NG_007409.2:g.123992T>C, NG_007409.2:g.123992T>A, NM_032043.3:c.2121T>G, NM_032043.3:c.2121T>C, NM_032043.3:c.2121T>A, NM_032043.2:c.2121T>G, NM_032043.2:c.2121T>C, NM_032043.2:c.2121T>A, XM_011525332.4:c.2181T>G, XM_011525332.4:c.2181T>C, XM_011525332.4:c.2181T>A, XM_011525332.3:c.2181T>G, XM_011525332.3:c.2181T>C, XM_011525332.3:c.2181T>A, XM_011525332.2:c.2181T>G, XM_011525332.2:c.2181T>C, XM_011525332.2:c.2181T>A, XM_011525332.1:c.2181T>G, XM_011525332.1:c.2181T>C, XM_011525332.1:c.2181T>A, XM_011525333.4:c.2181T>G, XM_011525333.4:c.2181T>C, XM_011525333.4:c.2181T>A, XM_011525333.3:c.2181T>G, XM_011525333.3:c.2181T>C, XM_011525333.3:c.2181T>A, XM_011525333.2:c.2181T>G, XM_011525333.2:c.2181T>C, XM_011525333.2:c.2181T>A, XM_011525333.1:c.2181T>G, XM_011525333.1:c.2181T>C, XM_011525333.1:c.2181T>A, XM_011525335.4:c.2121T>G, XM_011525335.4:c.2121T>C, XM_011525335.4:c.2121T>A, XM_011525335.3:c.2121T>G, XM_011525335.3:c.2121T>C, XM_011525335.3:c.2121T>A, XM_011525335.2:c.2121T>G, XM_011525335.2:c.2121T>C, XM_011525335.2:c.2121T>A, XM_011525335.1:c.2121T>G, XM_011525335.1:c.2121T>C, XM_011525335.1:c.2121T>A, XM_011525340.4:c.2181T>G, XM_011525340.4:c.2181T>C, XM_011525340.4:c.2181T>A, XM_011525340.3:c.2181T>G, XM_011525340.3:c.2181T>C, XM_011525340.3:c.2181T>A, XM_011525340.2:c.2181T>G, XM_011525340.2:c.2181T>C, XM_011525340.2:c.2181T>A, XM_011525340.1:c.2181T>G, XM_011525340.1:c.2181T>C, XM_011525340.1:c.2181T>A, XM_011525339.4:c.2181T>G, XM_011525339.4:c.2181T>C, XM_011525339.4:c.2181T>A, XM_011525339.3:c.2181T>G, XM_011525339.3:c.2181T>C, XM_011525339.3:c.2181T>A, XM_011525339.2:c.2181T>G, XM_011525339.2:c.2181T>C, XM_011525339.2:c.2181T>A, XM_011525339.1:c.2181T>G, XM_011525339.1:c.2181T>C, XM_011525339.1:c.2181T>A, XM_011525334.3:c.2181T>G, XM_011525334.3:c.2181T>C, XM_011525334.3:c.2181T>A, XM_011525334.2:c.2181T>G, XM_011525334.2:c.2181T>C, XM_011525334.2:c.2181T>A, XM_011525334.1:c.2181T>G, XM_011525334.1:c.2181T>C, XM_011525334.1:c.2181T>A, XM_011525336.3:c.2061T>G, XM_011525336.3:c.2061T>C, XM_011525336.3:c.2061T>A, XM_011525336.2:c.2061T>G, XM_011525336.2:c.2061T>C, XM_011525336.2:c.2061T>A, XM_011525336.1:c.2061T>G, XM_011525336.1:c.2061T>C, XM_011525336.1:c.2061T>A, XM_047436892.1:c.2121T>G, XM_047436892.1:c.2121T>C, XM_047436892.1:c.2121T>A, XM_047436894.1:c.2061T>G, XM_047436894.1:c.2061T>C, XM_047436894.1:c.2061T>A, XM_047436891.1:c.2121T>G, XM_047436891.1:c.2121T>C, XM_047436891.1:c.2121T>A, XM_047436893.1:c.2061T>G, XM_047436893.1:c.2061T>C, XM_047436893.1:c.2061T>A, XM_047436899.1:c.2121T>G, XM_047436899.1:c.2121T>C, XM_047436899.1:c.2121T>A, XM_047436904.1:c.2061T>G, XM_047436904.1:c.2061T>C, XM_047436904.1:c.2061T>A, XM_047436900.1:c.2121T>G, XM_047436900.1:c.2121T>C, XM_047436900.1:c.2121T>A, XM_047436901.1:c.2121T>G, XM_047436901.1:c.2121T>C, XM_047436901.1:c.2121T>A, XM_047436895.1:c.2181T>G, XM_047436895.1:c.2181T>C, XM_047436895.1:c.2181T>A, XM_047436896.1:c.2121T>G, XM_047436896.1:c.2121T>C, XM_047436896.1:c.2121T>A, XM_047436897.1:c.2121T>G, XM_047436897.1:c.2121T>C, XM_047436897.1:c.2121T>A, XM_047436902.1:c.2061T>G, XM_047436902.1:c.2061T>C, XM_047436902.1:c.2061T>A, XM_047436903.1:c.2061T>G, XM_047436903.1:c.2061T>C, XM_047436903.1:c.2061T>A

                    10.

                    rs1480863891 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GTA [Show Flanks]
                      Chromosome:
                      17:61784344 (GRCh38)
                      17:59861706 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:61784344:A:AGTA
                      Gene:
                      BRIP1 (Varview)
                      Functional Consequence:
                      inframe_insertion,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      AGT=0.000004/1 (GnomAD_exomes)
                      AGT=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000017.11:g.61784345_61784346insGTA, NC_000017.10:g.59861706_59861707insGTA, NG_007409.2:g.84215_84216insACT, NM_032043.3:c.1553_1554insACT, NM_032043.2:c.1553_1554insACT, XM_011525332.4:c.1553_1554insACT, XM_011525332.3:c.1553_1554insACT, XM_011525332.2:c.1553_1554insACT, XM_011525332.1:c.1553_1554insACT, XM_011525333.4:c.1553_1554insACT, XM_011525333.3:c.1553_1554insACT, XM_011525333.2:c.1553_1554insACT, XM_011525333.1:c.1553_1554insACT, XM_011525335.4:c.1553_1554insACT, XM_011525335.3:c.1553_1554insACT, XM_011525335.2:c.1553_1554insACT, XM_011525335.1:c.1553_1554insACT, XM_011525340.4:c.1553_1554insACT, XM_011525340.3:c.1553_1554insACT, XM_011525340.2:c.1553_1554insACT, XM_011525340.1:c.1553_1554insACT, XM_011525339.4:c.1553_1554insACT, XM_011525339.3:c.1553_1554insACT, XM_011525339.2:c.1553_1554insACT, XM_011525339.1:c.1553_1554insACT, XM_011525341.4:c.1553_1554insACT, XM_011525341.3:c.1553_1554insACT, XM_011525341.2:c.1553_1554insACT, XM_011525341.1:c.1553_1554insACT, XM_011525334.3:c.1553_1554insACT, XM_011525334.2:c.1553_1554insACT, XM_011525334.1:c.1553_1554insACT, XM_011525336.3:c.1553_1554insACT, XM_011525336.2:c.1553_1554insACT, XM_011525336.1:c.1553_1554insACT, XM_047436892.1:c.1553_1554insACT, XM_047436894.1:c.1553_1554insACT, XM_047436891.1:c.1553_1554insACT, XM_047436893.1:c.1553_1554insACT, XM_047436899.1:c.1553_1554insACT, XM_047436904.1:c.1553_1554insACT, XM_047436900.1:c.1553_1554insACT, XM_047436901.1:c.1553_1554insACT, XM_047436895.1:c.1553_1554insACT, XM_047436896.1:c.1553_1554insACT, XM_047436897.1:c.1553_1554insACT, XM_047436902.1:c.1553_1554insACT, XM_047436903.1:c.1553_1554insACT, NP_114432.2:p.Ile519_Ser520insLeu, XP_011523634.1:p.Ile519_Ser520insLeu, XP_011523635.1:p.Ile519_Ser520insLeu, XP_011523637.1:p.Ile519_Ser520insLeu, XP_011523642.1:p.Ile519_Ser520insLeu, XP_011523641.1:p.Ile519_Ser520insLeu, XP_011523643.1:p.Ile519_Ser520insLeu, XP_011523636.1:p.Ile519_Ser520insLeu, XP_011523638.1:p.Ile519_Ser520insLeu, XP_047292848.1:p.Ile519_Ser520insLeu, XP_047292850.1:p.Ile519_Ser520insLeu, XP_047292847.1:p.Ile519_Ser520insLeu, XP_047292849.1:p.Ile519_Ser520insLeu, XP_047292855.1:p.Ile519_Ser520insLeu, XP_047292860.1:p.Ile519_Ser520insLeu, XP_047292856.1:p.Ile519_Ser520insLeu, XP_047292857.1:p.Ile519_Ser520insLeu, XP_047292851.1:p.Ile519_Ser520insLeu, XP_047292852.1:p.Ile519_Ser520insLeu, XP_047292853.1:p.Ile519_Ser520insLeu, XP_047292858.1:p.Ile519_Ser520insLeu, XP_047292859.1:p.Ile519_Ser520insLeu

                      11.

                      rs1471650548 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:61857224 (GRCh38)
                        17:59934585 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:61857223:T:C
                        Gene:
                        BRIP1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000019/5 (TOPMED)
                        HGVS:
                        NC_000017.11:g.61857224T>C, NC_000017.10:g.59934585T>C, NG_007409.2:g.11336A>G, NM_032043.3:c.213A>G, NM_032043.2:c.213A>G, XM_011525332.4:c.213A>G, XM_011525332.3:c.213A>G, XM_011525332.2:c.213A>G, XM_011525332.1:c.213A>G, XM_011525333.4:c.213A>G, XM_011525333.3:c.213A>G, XM_011525333.2:c.213A>G, XM_011525333.1:c.213A>G, XM_011525335.4:c.213A>G, XM_011525335.3:c.213A>G, XM_011525335.2:c.213A>G, XM_011525335.1:c.213A>G, XM_011525340.4:c.213A>G, XM_011525340.3:c.213A>G, XM_011525340.2:c.213A>G, XM_011525340.1:c.213A>G, XM_011525339.4:c.213A>G, XM_011525339.3:c.213A>G, XM_011525339.2:c.213A>G, XM_011525339.1:c.213A>G, XM_011525341.4:c.213A>G, XM_011525341.3:c.213A>G, XM_011525341.2:c.213A>G, XM_011525341.1:c.213A>G, XM_011525334.3:c.213A>G, XM_011525334.2:c.213A>G, XM_011525334.1:c.213A>G, XM_011525336.3:c.213A>G, XM_011525336.2:c.213A>G, XM_011525336.1:c.213A>G, XM_047436892.1:c.213A>G, XM_047436894.1:c.213A>G, XM_047436891.1:c.213A>G, XM_047436893.1:c.213A>G, XM_047436899.1:c.213A>G, XM_047436904.1:c.213A>G, XM_047436900.1:c.213A>G, XM_047436901.1:c.213A>G, XM_047436895.1:c.213A>G, XM_047436896.1:c.213A>G, XM_047436897.1:c.213A>G, XM_047436902.1:c.213A>G, XM_047436903.1:c.213A>G

                        12.

                        rs1468683560 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          17:61801361 (GRCh38)
                          17:59878722 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:61801360:C:A,NC_000017.11:61801360:C:G,NC_000017.11:61801360:C:T
                          Gene:
                          BRIP1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000047/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.61801361C>A, NC_000017.11:g.61801361C>G, NC_000017.11:g.61801361C>T, NC_000017.10:g.59878722C>A, NC_000017.10:g.59878722C>G, NC_000017.10:g.59878722C>T, NG_007409.2:g.67199G>T, NG_007409.2:g.67199G>C, NG_007409.2:g.67199G>A, NM_032043.3:c.1032G>T, NM_032043.3:c.1032G>C, NM_032043.3:c.1032G>A, NM_032043.2:c.1032G>T, NM_032043.2:c.1032G>C, NM_032043.2:c.1032G>A, XM_011525332.4:c.1032G>T, XM_011525332.4:c.1032G>C, XM_011525332.4:c.1032G>A, XM_011525332.3:c.1032G>T, XM_011525332.3:c.1032G>C, XM_011525332.3:c.1032G>A, XM_011525332.2:c.1032G>T, XM_011525332.2:c.1032G>C, XM_011525332.2:c.1032G>A, XM_011525332.1:c.1032G>T, XM_011525332.1:c.1032G>C, XM_011525332.1:c.1032G>A, XM_011525333.4:c.1032G>T, XM_011525333.4:c.1032G>C, XM_011525333.4:c.1032G>A, XM_011525333.3:c.1032G>T, XM_011525333.3:c.1032G>C, XM_011525333.3:c.1032G>A, XM_011525333.2:c.1032G>T, XM_011525333.2:c.1032G>C, XM_011525333.2:c.1032G>A, XM_011525333.1:c.1032G>T, XM_011525333.1:c.1032G>C, XM_011525333.1:c.1032G>A, XM_011525335.4:c.1032G>T, XM_011525335.4:c.1032G>C, XM_011525335.4:c.1032G>A, XM_011525335.3:c.1032G>T, XM_011525335.3:c.1032G>C, XM_011525335.3:c.1032G>A, XM_011525335.2:c.1032G>T, XM_011525335.2:c.1032G>C, XM_011525335.2:c.1032G>A, XM_011525335.1:c.1032G>T, XM_011525335.1:c.1032G>C, XM_011525335.1:c.1032G>A, XM_011525340.4:c.1032G>T, XM_011525340.4:c.1032G>C, XM_011525340.4:c.1032G>A, XM_011525340.3:c.1032G>T, XM_011525340.3:c.1032G>C, XM_011525340.3:c.1032G>A, XM_011525340.2:c.1032G>T, XM_011525340.2:c.1032G>C, XM_011525340.2:c.1032G>A, XM_011525340.1:c.1032G>T, XM_011525340.1:c.1032G>C, XM_011525340.1:c.1032G>A, XM_011525339.4:c.1032G>T, XM_011525339.4:c.1032G>C, XM_011525339.4:c.1032G>A, XM_011525339.3:c.1032G>T, XM_011525339.3:c.1032G>C, XM_011525339.3:c.1032G>A, XM_011525339.2:c.1032G>T, XM_011525339.2:c.1032G>C, XM_011525339.2:c.1032G>A, XM_011525339.1:c.1032G>T, XM_011525339.1:c.1032G>C, XM_011525339.1:c.1032G>A, XM_011525341.4:c.1032G>T, XM_011525341.4:c.1032G>C, XM_011525341.4:c.1032G>A, XM_011525341.3:c.1032G>T, XM_011525341.3:c.1032G>C, XM_011525341.3:c.1032G>A, XM_011525341.2:c.1032G>T, XM_011525341.2:c.1032G>C, XM_011525341.2:c.1032G>A, XM_011525341.1:c.1032G>T, XM_011525341.1:c.1032G>C, XM_011525341.1:c.1032G>A, XM_011525334.3:c.1032G>T, XM_011525334.3:c.1032G>C, XM_011525334.3:c.1032G>A, XM_011525334.2:c.1032G>T, XM_011525334.2:c.1032G>C, XM_011525334.2:c.1032G>A, XM_011525334.1:c.1032G>T, XM_011525334.1:c.1032G>C, XM_011525334.1:c.1032G>A, XM_011525336.3:c.1032G>T, XM_011525336.3:c.1032G>C, XM_011525336.3:c.1032G>A, XM_011525336.2:c.1032G>T, XM_011525336.2:c.1032G>C, XM_011525336.2:c.1032G>A, XM_011525336.1:c.1032G>T, XM_011525336.1:c.1032G>C, XM_011525336.1:c.1032G>A, XM_047436892.1:c.1032G>T, XM_047436892.1:c.1032G>C, XM_047436892.1:c.1032G>A, XM_047436894.1:c.1032G>T, XM_047436894.1:c.1032G>C, XM_047436894.1:c.1032G>A, XM_047436891.1:c.1032G>T, XM_047436891.1:c.1032G>C, XM_047436891.1:c.1032G>A, XM_047436893.1:c.1032G>T, XM_047436893.1:c.1032G>C, XM_047436893.1:c.1032G>A, XM_047436899.1:c.1032G>T, XM_047436899.1:c.1032G>C, XM_047436899.1:c.1032G>A, XM_047436904.1:c.1032G>T, XM_047436904.1:c.1032G>C, XM_047436904.1:c.1032G>A, XM_047436900.1:c.1032G>T, XM_047436900.1:c.1032G>C, XM_047436900.1:c.1032G>A, XM_047436901.1:c.1032G>T, XM_047436901.1:c.1032G>C, XM_047436901.1:c.1032G>A, XM_047436895.1:c.1032G>T, XM_047436895.1:c.1032G>C, XM_047436895.1:c.1032G>A, XM_047436896.1:c.1032G>T, XM_047436896.1:c.1032G>C, XM_047436896.1:c.1032G>A, XM_047436897.1:c.1032G>T, XM_047436897.1:c.1032G>C, XM_047436897.1:c.1032G>A, XM_047436902.1:c.1032G>T, XM_047436902.1:c.1032G>C, XM_047436902.1:c.1032G>A, XM_047436903.1:c.1032G>T, XM_047436903.1:c.1032G>C, XM_047436903.1:c.1032G>A

                          13.

                          rs1467232177 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G,T [Show Flanks]
                            Chromosome:
                            17:61743053 (GRCh38)
                            17:59820414 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:61743052:A:C,NC_000017.11:61743052:A:G,NC_000017.11:61743052:A:T
                            Gene:
                            BRIP1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000017.11:g.61743053A>C, NC_000017.11:g.61743053A>G, NC_000017.11:g.61743053A>T, NC_000017.10:g.59820414A>C, NC_000017.10:g.59820414A>G, NC_000017.10:g.59820414A>T, NG_007409.2:g.125507T>G, NG_007409.2:g.125507T>C, NG_007409.2:g.125507T>A, NM_032043.3:c.2339T>G, NM_032043.3:c.2339T>C, NM_032043.3:c.2339T>A, NM_032043.2:c.2339T>G, NM_032043.2:c.2339T>C, NM_032043.2:c.2339T>A, XM_011525332.4:c.2399T>G, XM_011525332.4:c.2399T>C, XM_011525332.4:c.2399T>A, XM_011525332.3:c.2399T>G, XM_011525332.3:c.2399T>C, XM_011525332.3:c.2399T>A, XM_011525332.2:c.2399T>G, XM_011525332.2:c.2399T>C, XM_011525332.2:c.2399T>A, XM_011525332.1:c.2399T>G, XM_011525332.1:c.2399T>C, XM_011525332.1:c.2399T>A, XM_011525333.4:c.2399T>G, XM_011525333.4:c.2399T>C, XM_011525333.4:c.2399T>A, XM_011525333.3:c.2399T>G, XM_011525333.3:c.2399T>C, XM_011525333.3:c.2399T>A, XM_011525333.2:c.2399T>G, XM_011525333.2:c.2399T>C, XM_011525333.2:c.2399T>A, XM_011525333.1:c.2399T>G, XM_011525333.1:c.2399T>C, XM_011525333.1:c.2399T>A, XM_011525335.4:c.2339T>G, XM_011525335.4:c.2339T>C, XM_011525335.4:c.2339T>A, XM_011525335.3:c.2339T>G, XM_011525335.3:c.2339T>C, XM_011525335.3:c.2339T>A, XM_011525335.2:c.2339T>G, XM_011525335.2:c.2339T>C, XM_011525335.2:c.2339T>A, XM_011525335.1:c.2339T>G, XM_011525335.1:c.2339T>C, XM_011525335.1:c.2339T>A, XM_011525340.4:c.2399T>G, XM_011525340.4:c.2399T>C, XM_011525340.4:c.2399T>A, XM_011525340.3:c.2399T>G, XM_011525340.3:c.2399T>C, XM_011525340.3:c.2399T>A, XM_011525340.2:c.2399T>G, XM_011525340.2:c.2399T>C, XM_011525340.2:c.2399T>A, XM_011525340.1:c.2399T>G, XM_011525340.1:c.2399T>C, XM_011525340.1:c.2399T>A, XM_011525339.4:c.2399T>G, XM_011525339.4:c.2399T>C, XM_011525339.4:c.2399T>A, XM_011525339.3:c.2399T>G, XM_011525339.3:c.2399T>C, XM_011525339.3:c.2399T>A, XM_011525339.2:c.2399T>G, XM_011525339.2:c.2399T>C, XM_011525339.2:c.2399T>A, XM_011525339.1:c.2399T>G, XM_011525339.1:c.2399T>C, XM_011525339.1:c.2399T>A, XM_011525334.3:c.2399T>G, XM_011525334.3:c.2399T>C, XM_011525334.3:c.2399T>A, XM_011525334.2:c.2399T>G, XM_011525334.2:c.2399T>C, XM_011525334.2:c.2399T>A, XM_011525334.1:c.2399T>G, XM_011525334.1:c.2399T>C, XM_011525334.1:c.2399T>A, XM_011525336.3:c.2279T>G, XM_011525336.3:c.2279T>C, XM_011525336.3:c.2279T>A, XM_011525336.2:c.2279T>G, XM_011525336.2:c.2279T>C, XM_011525336.2:c.2279T>A, XM_011525336.1:c.2279T>G, XM_011525336.1:c.2279T>C, XM_011525336.1:c.2279T>A, XM_047436892.1:c.2339T>G, XM_047436892.1:c.2339T>C, XM_047436892.1:c.2339T>A, XM_047436894.1:c.2279T>G, XM_047436894.1:c.2279T>C, XM_047436894.1:c.2279T>A, XM_047436891.1:c.2339T>G, XM_047436891.1:c.2339T>C, XM_047436891.1:c.2339T>A, XM_047436893.1:c.2279T>G, XM_047436893.1:c.2279T>C, XM_047436893.1:c.2279T>A, XM_047436899.1:c.2339T>G, XM_047436899.1:c.2339T>C, XM_047436899.1:c.2339T>A, XM_047436904.1:c.2279T>G, XM_047436904.1:c.2279T>C, XM_047436904.1:c.2279T>A, XM_047436900.1:c.2339T>G, XM_047436900.1:c.2339T>C, XM_047436900.1:c.2339T>A, XM_047436901.1:c.2339T>G, XM_047436901.1:c.2339T>C, XM_047436901.1:c.2339T>A, XM_047436895.1:c.2399T>G, XM_047436895.1:c.2399T>C, XM_047436895.1:c.2399T>A, XM_047436896.1:c.2339T>G, XM_047436896.1:c.2339T>C, XM_047436896.1:c.2339T>A, XM_047436897.1:c.2339T>G, XM_047436897.1:c.2339T>C, XM_047436897.1:c.2339T>A, XM_047436902.1:c.2279T>G, XM_047436902.1:c.2279T>C, XM_047436902.1:c.2279T>A, XM_047436903.1:c.2279T>G, XM_047436903.1:c.2279T>C, XM_047436903.1:c.2279T>A, NP_114432.2:p.Ile780Arg, NP_114432.2:p.Ile780Thr, NP_114432.2:p.Ile780Lys, XP_011523634.1:p.Ile800Arg, XP_011523634.1:p.Ile800Thr, XP_011523634.1:p.Ile800Lys, XP_011523635.1:p.Ile800Arg, XP_011523635.1:p.Ile800Thr, XP_011523635.1:p.Ile800Lys, XP_011523637.1:p.Ile780Arg, XP_011523637.1:p.Ile780Thr, XP_011523637.1:p.Ile780Lys, XP_011523642.1:p.Ile800Arg, XP_011523642.1:p.Ile800Thr, XP_011523642.1:p.Ile800Lys, XP_011523641.1:p.Ile800Arg, XP_011523641.1:p.Ile800Thr, XP_011523641.1:p.Ile800Lys, XP_011523636.1:p.Ile800Arg, XP_011523636.1:p.Ile800Thr, XP_011523636.1:p.Ile800Lys, XP_011523638.1:p.Ile760Arg, XP_011523638.1:p.Ile760Thr, XP_011523638.1:p.Ile760Lys, XP_047292848.1:p.Ile780Arg, XP_047292848.1:p.Ile780Thr, XP_047292848.1:p.Ile780Lys, XP_047292850.1:p.Ile760Arg, XP_047292850.1:p.Ile760Thr, XP_047292850.1:p.Ile760Lys, XP_047292847.1:p.Ile780Arg, XP_047292847.1:p.Ile780Thr, XP_047292847.1:p.Ile780Lys, XP_047292849.1:p.Ile760Arg, XP_047292849.1:p.Ile760Thr, XP_047292849.1:p.Ile760Lys, XP_047292855.1:p.Ile780Arg, XP_047292855.1:p.Ile780Thr, XP_047292855.1:p.Ile780Lys, XP_047292860.1:p.Ile760Arg, XP_047292860.1:p.Ile760Thr, XP_047292860.1:p.Ile760Lys, XP_047292856.1:p.Ile780Arg, XP_047292856.1:p.Ile780Thr, XP_047292856.1:p.Ile780Lys, XP_047292857.1:p.Ile780Arg, XP_047292857.1:p.Ile780Thr, XP_047292857.1:p.Ile780Lys, XP_047292851.1:p.Ile800Arg, XP_047292851.1:p.Ile800Thr, XP_047292851.1:p.Ile800Lys, XP_047292852.1:p.Ile780Arg, XP_047292852.1:p.Ile780Thr, XP_047292852.1:p.Ile780Lys, XP_047292853.1:p.Ile780Arg, XP_047292853.1:p.Ile780Thr, XP_047292853.1:p.Ile780Lys, XP_047292858.1:p.Ile760Arg, XP_047292858.1:p.Ile760Thr, XP_047292858.1:p.Ile760Lys, XP_047292859.1:p.Ile760Arg, XP_047292859.1:p.Ile760Thr, XP_047292859.1:p.Ile760Lys

                            14.

                            rs1466605276 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              17:61799160 (GRCh38)
                              17:59876521 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:61799159:T:A,NC_000017.11:61799159:T:C
                              Gene:
                              BRIP1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000017.11:g.61799160T>A, NC_000017.11:g.61799160T>C, NC_000017.10:g.59876521T>A, NC_000017.10:g.59876521T>C, NG_007409.2:g.69400A>T, NG_007409.2:g.69400A>G, NM_032043.3:c.1280A>T, NM_032043.3:c.1280A>G, NM_032043.2:c.1280A>T, NM_032043.2:c.1280A>G, XM_011525332.4:c.1280A>T, XM_011525332.4:c.1280A>G, XM_011525332.3:c.1280A>T, XM_011525332.3:c.1280A>G, XM_011525332.2:c.1280A>T, XM_011525332.2:c.1280A>G, XM_011525332.1:c.1280A>T, XM_011525332.1:c.1280A>G, XM_011525333.4:c.1280A>T, XM_011525333.4:c.1280A>G, XM_011525333.3:c.1280A>T, XM_011525333.3:c.1280A>G, XM_011525333.2:c.1280A>T, XM_011525333.2:c.1280A>G, XM_011525333.1:c.1280A>T, XM_011525333.1:c.1280A>G, XM_011525335.4:c.1280A>T, XM_011525335.4:c.1280A>G, XM_011525335.3:c.1280A>T, XM_011525335.3:c.1280A>G, XM_011525335.2:c.1280A>T, XM_011525335.2:c.1280A>G, XM_011525335.1:c.1280A>T, XM_011525335.1:c.1280A>G, XM_011525340.4:c.1280A>T, XM_011525340.4:c.1280A>G, XM_011525340.3:c.1280A>T, XM_011525340.3:c.1280A>G, XM_011525340.2:c.1280A>T, XM_011525340.2:c.1280A>G, XM_011525340.1:c.1280A>T, XM_011525340.1:c.1280A>G, XM_011525339.4:c.1280A>T, XM_011525339.4:c.1280A>G, XM_011525339.3:c.1280A>T, XM_011525339.3:c.1280A>G, XM_011525339.2:c.1280A>T, XM_011525339.2:c.1280A>G, XM_011525339.1:c.1280A>T, XM_011525339.1:c.1280A>G, XM_011525341.4:c.1280A>T, XM_011525341.4:c.1280A>G, XM_011525341.3:c.1280A>T, XM_011525341.3:c.1280A>G, XM_011525341.2:c.1280A>T, XM_011525341.2:c.1280A>G, XM_011525341.1:c.1280A>T, XM_011525341.1:c.1280A>G, XM_011525334.3:c.1280A>T, XM_011525334.3:c.1280A>G, XM_011525334.2:c.1280A>T, XM_011525334.2:c.1280A>G, XM_011525334.1:c.1280A>T, XM_011525334.1:c.1280A>G, XM_011525336.3:c.1280A>T, XM_011525336.3:c.1280A>G, XM_011525336.2:c.1280A>T, XM_011525336.2:c.1280A>G, XM_011525336.1:c.1280A>T, XM_011525336.1:c.1280A>G, XM_047436892.1:c.1280A>T, XM_047436892.1:c.1280A>G, XM_047436894.1:c.1280A>T, XM_047436894.1:c.1280A>G, XM_047436891.1:c.1280A>T, XM_047436891.1:c.1280A>G, XM_047436893.1:c.1280A>T, XM_047436893.1:c.1280A>G, XM_047436899.1:c.1280A>T, XM_047436899.1:c.1280A>G, XM_047436904.1:c.1280A>T, XM_047436904.1:c.1280A>G, XM_047436900.1:c.1280A>T, XM_047436900.1:c.1280A>G, XM_047436901.1:c.1280A>T, XM_047436901.1:c.1280A>G, XM_047436895.1:c.1280A>T, XM_047436895.1:c.1280A>G, XM_047436896.1:c.1280A>T, XM_047436896.1:c.1280A>G, XM_047436897.1:c.1280A>T, XM_047436897.1:c.1280A>G, XM_047436902.1:c.1280A>T, XM_047436902.1:c.1280A>G, XM_047436903.1:c.1280A>T, XM_047436903.1:c.1280A>G, NP_114432.2:p.Asn427Ile, NP_114432.2:p.Asn427Ser, XP_011523634.1:p.Asn427Ile, XP_011523634.1:p.Asn427Ser, XP_011523635.1:p.Asn427Ile, XP_011523635.1:p.Asn427Ser, XP_011523637.1:p.Asn427Ile, XP_011523637.1:p.Asn427Ser, XP_011523642.1:p.Asn427Ile, XP_011523642.1:p.Asn427Ser, XP_011523641.1:p.Asn427Ile, XP_011523641.1:p.Asn427Ser, XP_011523643.1:p.Asn427Ile, XP_011523643.1:p.Asn427Ser, XP_011523636.1:p.Asn427Ile, XP_011523636.1:p.Asn427Ser, XP_011523638.1:p.Asn427Ile, XP_011523638.1:p.Asn427Ser, XP_047292848.1:p.Asn427Ile, XP_047292848.1:p.Asn427Ser, XP_047292850.1:p.Asn427Ile, XP_047292850.1:p.Asn427Ser, XP_047292847.1:p.Asn427Ile, XP_047292847.1:p.Asn427Ser, XP_047292849.1:p.Asn427Ile, XP_047292849.1:p.Asn427Ser, XP_047292855.1:p.Asn427Ile, XP_047292855.1:p.Asn427Ser, XP_047292860.1:p.Asn427Ile, XP_047292860.1:p.Asn427Ser, XP_047292856.1:p.Asn427Ile, XP_047292856.1:p.Asn427Ser, XP_047292857.1:p.Asn427Ile, XP_047292857.1:p.Asn427Ser, XP_047292851.1:p.Asn427Ile, XP_047292851.1:p.Asn427Ser, XP_047292852.1:p.Asn427Ile, XP_047292852.1:p.Asn427Ser, XP_047292853.1:p.Asn427Ile, XP_047292853.1:p.Asn427Ser, XP_047292858.1:p.Asn427Ile, XP_047292858.1:p.Asn427Ser, XP_047292859.1:p.Asn427Ile, XP_047292859.1:p.Asn427Ser

                              15.

                              rs1465283737 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,T [Show Flanks]
                                Chromosome:
                                17:61776418 (GRCh38)
                                17:59853779 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:61776417:A:C,NC_000017.11:61776417:A:T
                                Gene:
                                BRIP1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,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_000017.11:g.61776418A>C, NC_000017.11:g.61776418A>T, NC_000017.10:g.59853779A>C, NC_000017.10:g.59853779A>T, NG_007409.2:g.92142T>G, NG_007409.2:g.92142T>A, NM_032043.3:c.2080T>G, NM_032043.3:c.2080T>A, NM_032043.2:c.2080T>G, NM_032043.2:c.2080T>A, XM_011525332.4:c.2140T>G, XM_011525332.4:c.2140T>A, XM_011525332.3:c.2140T>G, XM_011525332.3:c.2140T>A, XM_011525332.2:c.2140T>G, XM_011525332.2:c.2140T>A, XM_011525332.1:c.2140T>G, XM_011525332.1:c.2140T>A, XM_011525333.4:c.2140T>G, XM_011525333.4:c.2140T>A, XM_011525333.3:c.2140T>G, XM_011525333.3:c.2140T>A, XM_011525333.2:c.2140T>G, XM_011525333.2:c.2140T>A, XM_011525333.1:c.2140T>G, XM_011525333.1:c.2140T>A, XM_011525335.4:c.2080T>G, XM_011525335.4:c.2080T>A, XM_011525335.3:c.2080T>G, XM_011525335.3:c.2080T>A, XM_011525335.2:c.2080T>G, XM_011525335.2:c.2080T>A, XM_011525335.1:c.2080T>G, XM_011525335.1:c.2080T>A, XM_011525340.4:c.2140T>G, XM_011525340.4:c.2140T>A, XM_011525340.3:c.2140T>G, XM_011525340.3:c.2140T>A, XM_011525340.2:c.2140T>G, XM_011525340.2:c.2140T>A, XM_011525340.1:c.2140T>G, XM_011525340.1:c.2140T>A, XM_011525339.4:c.2140T>G, XM_011525339.4:c.2140T>A, XM_011525339.3:c.2140T>G, XM_011525339.3:c.2140T>A, XM_011525339.2:c.2140T>G, XM_011525339.2:c.2140T>A, XM_011525339.1:c.2140T>G, XM_011525339.1:c.2140T>A, XM_011525334.3:c.2140T>G, XM_011525334.3:c.2140T>A, XM_011525334.2:c.2140T>G, XM_011525334.2:c.2140T>A, XM_011525334.1:c.2140T>G, XM_011525334.1:c.2140T>A, XM_011525336.3:c.2020T>G, XM_011525336.3:c.2020T>A, XM_011525336.2:c.2020T>G, XM_011525336.2:c.2020T>A, XM_011525336.1:c.2020T>G, XM_011525336.1:c.2020T>A, XM_047436892.1:c.2080T>G, XM_047436892.1:c.2080T>A, XM_047436894.1:c.2020T>G, XM_047436894.1:c.2020T>A, XM_047436891.1:c.2080T>G, XM_047436891.1:c.2080T>A, XM_047436893.1:c.2020T>G, XM_047436893.1:c.2020T>A, XM_047436899.1:c.2080T>G, XM_047436899.1:c.2080T>A, XM_047436904.1:c.2020T>G, XM_047436904.1:c.2020T>A, XM_047436900.1:c.2080T>G, XM_047436900.1:c.2080T>A, XM_047436901.1:c.2080T>G, XM_047436901.1:c.2080T>A, XM_047436895.1:c.2140T>G, XM_047436895.1:c.2140T>A, XM_047436896.1:c.2080T>G, XM_047436896.1:c.2080T>A, XM_047436897.1:c.2080T>G, XM_047436897.1:c.2080T>A, XM_047436902.1:c.2020T>G, XM_047436902.1:c.2020T>A, XM_047436903.1:c.2020T>G, XM_047436903.1:c.2020T>A, NP_114432.2:p.Phe694Val, NP_114432.2:p.Phe694Ile, XP_011523634.1:p.Phe714Val, XP_011523634.1:p.Phe714Ile, XP_011523635.1:p.Phe714Val, XP_011523635.1:p.Phe714Ile, XP_011523637.1:p.Phe694Val, XP_011523637.1:p.Phe694Ile, XP_011523642.1:p.Phe714Val, XP_011523642.1:p.Phe714Ile, XP_011523641.1:p.Phe714Val, XP_011523641.1:p.Phe714Ile, XP_011523636.1:p.Phe714Val, XP_011523636.1:p.Phe714Ile, XP_011523638.1:p.Phe674Val, XP_011523638.1:p.Phe674Ile, XP_047292848.1:p.Phe694Val, XP_047292848.1:p.Phe694Ile, XP_047292850.1:p.Phe674Val, XP_047292850.1:p.Phe674Ile, XP_047292847.1:p.Phe694Val, XP_047292847.1:p.Phe694Ile, XP_047292849.1:p.Phe674Val, XP_047292849.1:p.Phe674Ile, XP_047292855.1:p.Phe694Val, XP_047292855.1:p.Phe694Ile, XP_047292860.1:p.Phe674Val, XP_047292860.1:p.Phe674Ile, XP_047292856.1:p.Phe694Val, XP_047292856.1:p.Phe694Ile, XP_047292857.1:p.Phe694Val, XP_047292857.1:p.Phe694Ile, XP_047292851.1:p.Phe714Val, XP_047292851.1:p.Phe714Ile, XP_047292852.1:p.Phe694Val, XP_047292852.1:p.Phe694Ile, XP_047292853.1:p.Phe694Val, XP_047292853.1:p.Phe694Ile, XP_047292858.1:p.Phe674Val, XP_047292858.1:p.Phe674Ile, XP_047292859.1:p.Phe674Val, XP_047292859.1:p.Phe674Ile

                                16.

                                rs1464898721 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  17:61780360 (GRCh38)
                                  17:59857721 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:61780359:C:A,NC_000017.11:61780359:C:T
                                  Gene:
                                  BRIP1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance,likely-benign
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.61780360C>A, NC_000017.11:g.61780360C>T, NC_000017.10:g.59857721C>A, NC_000017.10:g.59857721C>T, NG_007409.2:g.88200G>T, NG_007409.2:g.88200G>A, NM_032043.3:c.1836G>T, NM_032043.3:c.1836G>A, NM_032043.2:c.1836G>T, NM_032043.2:c.1836G>A, XM_011525332.4:c.1836G>T, XM_011525332.4:c.1836G>A, XM_011525332.3:c.1836G>T, XM_011525332.3:c.1836G>A, XM_011525332.2:c.1836G>T, XM_011525332.2:c.1836G>A, XM_011525332.1:c.1836G>T, XM_011525332.1:c.1836G>A, XM_011525333.4:c.1836G>T, XM_011525333.4:c.1836G>A, XM_011525333.3:c.1836G>T, XM_011525333.3:c.1836G>A, XM_011525333.2:c.1836G>T, XM_011525333.2:c.1836G>A, XM_011525333.1:c.1836G>T, XM_011525333.1:c.1836G>A, XM_011525335.4:c.1836G>T, XM_011525335.4:c.1836G>A, XM_011525335.3:c.1836G>T, XM_011525335.3:c.1836G>A, XM_011525335.2:c.1836G>T, XM_011525335.2:c.1836G>A, XM_011525335.1:c.1836G>T, XM_011525335.1:c.1836G>A, XM_011525340.4:c.1836G>T, XM_011525340.4:c.1836G>A, XM_011525340.3:c.1836G>T, XM_011525340.3:c.1836G>A, XM_011525340.2:c.1836G>T, XM_011525340.2:c.1836G>A, XM_011525340.1:c.1836G>T, XM_011525340.1:c.1836G>A, XM_011525339.4:c.1836G>T, XM_011525339.4:c.1836G>A, XM_011525339.3:c.1836G>T, XM_011525339.3:c.1836G>A, XM_011525339.2:c.1836G>T, XM_011525339.2:c.1836G>A, XM_011525339.1:c.1836G>T, XM_011525339.1:c.1836G>A, XM_011525341.4:c.1836G>T, XM_011525341.4:c.1836G>A, XM_011525341.3:c.1836G>T, XM_011525341.3:c.1836G>A, XM_011525341.2:c.1836G>T, XM_011525341.2:c.1836G>A, XM_011525341.1:c.1836G>T, XM_011525341.1:c.1836G>A, XM_011525334.3:c.1836G>T, XM_011525334.3:c.1836G>A, XM_011525334.2:c.1836G>T, XM_011525334.2:c.1836G>A, XM_011525334.1:c.1836G>T, XM_011525334.1:c.1836G>A, XM_011525336.3:c.1836G>T, XM_011525336.3:c.1836G>A, XM_011525336.2:c.1836G>T, XM_011525336.2:c.1836G>A, XM_011525336.1:c.1836G>T, XM_011525336.1:c.1836G>A, XM_047436892.1:c.1836G>T, XM_047436892.1:c.1836G>A, XM_047436894.1:c.1836G>T, XM_047436894.1:c.1836G>A, XM_047436891.1:c.1836G>T, XM_047436891.1:c.1836G>A, XM_047436893.1:c.1836G>T, XM_047436893.1:c.1836G>A, XM_047436899.1:c.1836G>T, XM_047436899.1:c.1836G>A, XM_047436904.1:c.1836G>T, XM_047436904.1:c.1836G>A, XM_047436900.1:c.1836G>T, XM_047436900.1:c.1836G>A, XM_047436901.1:c.1836G>T, XM_047436901.1:c.1836G>A, XM_047436895.1:c.1836G>T, XM_047436895.1:c.1836G>A, XM_047436896.1:c.1836G>T, XM_047436896.1:c.1836G>A, XM_047436897.1:c.1836G>T, XM_047436897.1:c.1836G>A, XM_047436902.1:c.1836G>T, XM_047436902.1:c.1836G>A, XM_047436903.1:c.1836G>T, XM_047436903.1:c.1836G>A, NP_114432.2:p.Leu612Phe, XP_011523634.1:p.Leu612Phe, XP_011523635.1:p.Leu612Phe, XP_011523637.1:p.Leu612Phe, XP_011523642.1:p.Leu612Phe, XP_011523641.1:p.Leu612Phe, XP_011523643.1:p.Leu612Phe, XP_011523636.1:p.Leu612Phe, XP_011523638.1:p.Leu612Phe, XP_047292848.1:p.Leu612Phe, XP_047292850.1:p.Leu612Phe, XP_047292847.1:p.Leu612Phe, XP_047292849.1:p.Leu612Phe, XP_047292855.1:p.Leu612Phe, XP_047292860.1:p.Leu612Phe, XP_047292856.1:p.Leu612Phe, XP_047292857.1:p.Leu612Phe, XP_047292851.1:p.Leu612Phe, XP_047292852.1:p.Leu612Phe, XP_047292853.1:p.Leu612Phe, XP_047292858.1:p.Leu612Phe, XP_047292859.1:p.Leu612Phe

                                  17.

                                  rs1462414397 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:61743069 (GRCh38)
                                    17:59820430 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:61743068:T:C
                                    Gene:
                                    BRIP1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.61743069T>C, NC_000017.10:g.59820430T>C, NG_007409.2:g.125491A>G, NM_032043.3:c.2323A>G, NM_032043.2:c.2323A>G, XM_011525332.4:c.2383A>G, XM_011525332.3:c.2383A>G, XM_011525332.2:c.2383A>G, XM_011525332.1:c.2383A>G, XM_011525333.4:c.2383A>G, XM_011525333.3:c.2383A>G, XM_011525333.2:c.2383A>G, XM_011525333.1:c.2383A>G, XM_011525335.4:c.2323A>G, XM_011525335.3:c.2323A>G, XM_011525335.2:c.2323A>G, XM_011525335.1:c.2323A>G, XM_011525340.4:c.2383A>G, XM_011525340.3:c.2383A>G, XM_011525340.2:c.2383A>G, XM_011525340.1:c.2383A>G, XM_011525339.4:c.2383A>G, XM_011525339.3:c.2383A>G, XM_011525339.2:c.2383A>G, XM_011525339.1:c.2383A>G, XM_011525334.3:c.2383A>G, XM_011525334.2:c.2383A>G, XM_011525334.1:c.2383A>G, XM_011525336.3:c.2263A>G, XM_011525336.2:c.2263A>G, XM_011525336.1:c.2263A>G, XM_047436892.1:c.2323A>G, XM_047436894.1:c.2263A>G, XM_047436891.1:c.2323A>G, XM_047436893.1:c.2263A>G, XM_047436899.1:c.2323A>G, XM_047436904.1:c.2263A>G, XM_047436900.1:c.2323A>G, XM_047436901.1:c.2323A>G, XM_047436895.1:c.2383A>G, XM_047436896.1:c.2323A>G, XM_047436897.1:c.2323A>G, XM_047436902.1:c.2263A>G, XM_047436903.1:c.2263A>G, NP_114432.2:p.Asn775Asp, XP_011523634.1:p.Asn795Asp, XP_011523635.1:p.Asn795Asp, XP_011523637.1:p.Asn775Asp, XP_011523642.1:p.Asn795Asp, XP_011523641.1:p.Asn795Asp, XP_011523636.1:p.Asn795Asp, XP_011523638.1:p.Asn755Asp, XP_047292848.1:p.Asn775Asp, XP_047292850.1:p.Asn755Asp, XP_047292847.1:p.Asn775Asp, XP_047292849.1:p.Asn755Asp, XP_047292855.1:p.Asn775Asp, XP_047292860.1:p.Asn755Asp, XP_047292856.1:p.Asn775Asp, XP_047292857.1:p.Asn775Asp, XP_047292851.1:p.Asn795Asp, XP_047292852.1:p.Asn775Asp, XP_047292853.1:p.Asn775Asp, XP_047292858.1:p.Asn755Asp, XP_047292859.1:p.Asn755Asp

                                    18.

                                    rs1461022839 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,T [Show Flanks]
                                      Chromosome:
                                      17:61859841 (GRCh38)
                                      17:59937202 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:61859840:A:C,NC_000017.11:61859840:A:T
                                      Gene:
                                      BRIP1 (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)
                                      HGVS:
                                      NC_000017.11:g.61859841A>C, NC_000017.11:g.61859841A>T, NC_000017.10:g.59937202A>C, NC_000017.10:g.59937202A>T, NG_007409.2:g.8719T>G, NG_007409.2:g.8719T>A, NM_032043.3:c.160T>G, NM_032043.3:c.160T>A, NM_032043.2:c.160T>G, NM_032043.2:c.160T>A, XM_011525332.4:c.160T>G, XM_011525332.4:c.160T>A, XM_011525332.3:c.160T>G, XM_011525332.3:c.160T>A, XM_011525332.2:c.160T>G, XM_011525332.2:c.160T>A, XM_011525332.1:c.160T>G, XM_011525332.1:c.160T>A, XM_011525333.4:c.160T>G, XM_011525333.4:c.160T>A, XM_011525333.3:c.160T>G, XM_011525333.3:c.160T>A, XM_011525333.2:c.160T>G, XM_011525333.2:c.160T>A, XM_011525333.1:c.160T>G, XM_011525333.1:c.160T>A, XM_011525335.4:c.160T>G, XM_011525335.4:c.160T>A, XM_011525335.3:c.160T>G, XM_011525335.3:c.160T>A, XM_011525335.2:c.160T>G, XM_011525335.2:c.160T>A, XM_011525335.1:c.160T>G, XM_011525335.1:c.160T>A, XM_011525340.4:c.160T>G, XM_011525340.4:c.160T>A, XM_011525340.3:c.160T>G, XM_011525340.3:c.160T>A, XM_011525340.2:c.160T>G, XM_011525340.2:c.160T>A, XM_011525340.1:c.160T>G, XM_011525340.1:c.160T>A, XM_011525339.4:c.160T>G, XM_011525339.4:c.160T>A, XM_011525339.3:c.160T>G, XM_011525339.3:c.160T>A, XM_011525339.2:c.160T>G, XM_011525339.2:c.160T>A, XM_011525339.1:c.160T>G, XM_011525339.1:c.160T>A, XM_011525341.4:c.160T>G, XM_011525341.4:c.160T>A, XM_011525341.3:c.160T>G, XM_011525341.3:c.160T>A, XM_011525341.2:c.160T>G, XM_011525341.2:c.160T>A, XM_011525341.1:c.160T>G, XM_011525341.1:c.160T>A, XM_011525334.3:c.160T>G, XM_011525334.3:c.160T>A, XM_011525334.2:c.160T>G, XM_011525334.2:c.160T>A, XM_011525334.1:c.160T>G, XM_011525334.1:c.160T>A, XM_011525336.3:c.160T>G, XM_011525336.3:c.160T>A, XM_011525336.2:c.160T>G, XM_011525336.2:c.160T>A, XM_011525336.1:c.160T>G, XM_011525336.1:c.160T>A, XM_047436892.1:c.160T>G, XM_047436892.1:c.160T>A, XM_047436894.1:c.160T>G, XM_047436894.1:c.160T>A, XM_047436891.1:c.160T>G, XM_047436891.1:c.160T>A, XM_047436893.1:c.160T>G, XM_047436893.1:c.160T>A, XM_047436899.1:c.160T>G, XM_047436899.1:c.160T>A, XM_047436904.1:c.160T>G, XM_047436904.1:c.160T>A, XM_047436900.1:c.160T>G, XM_047436900.1:c.160T>A, XM_047436901.1:c.160T>G, XM_047436901.1:c.160T>A, XM_047436895.1:c.160T>G, XM_047436895.1:c.160T>A, XM_047436896.1:c.160T>G, XM_047436896.1:c.160T>A, XM_047436897.1:c.160T>G, XM_047436897.1:c.160T>A, XM_047436902.1:c.160T>G, XM_047436902.1:c.160T>A, XM_047436903.1:c.160T>G, XM_047436903.1:c.160T>A, NP_114432.2:p.Leu54Val, NP_114432.2:p.Leu54Ile, XP_011523634.1:p.Leu54Val, XP_011523634.1:p.Leu54Ile, XP_011523635.1:p.Leu54Val, XP_011523635.1:p.Leu54Ile, XP_011523637.1:p.Leu54Val, XP_011523637.1:p.Leu54Ile, XP_011523642.1:p.Leu54Val, XP_011523642.1:p.Leu54Ile, XP_011523641.1:p.Leu54Val, XP_011523641.1:p.Leu54Ile, XP_011523643.1:p.Leu54Val, XP_011523643.1:p.Leu54Ile, XP_011523636.1:p.Leu54Val, XP_011523636.1:p.Leu54Ile, XP_011523638.1:p.Leu54Val, XP_011523638.1:p.Leu54Ile, XP_047292848.1:p.Leu54Val, XP_047292848.1:p.Leu54Ile, XP_047292850.1:p.Leu54Val, XP_047292850.1:p.Leu54Ile, XP_047292847.1:p.Leu54Val, XP_047292847.1:p.Leu54Ile, XP_047292849.1:p.Leu54Val, XP_047292849.1:p.Leu54Ile, XP_047292855.1:p.Leu54Val, XP_047292855.1:p.Leu54Ile, XP_047292860.1:p.Leu54Val, XP_047292860.1:p.Leu54Ile, XP_047292856.1:p.Leu54Val, XP_047292856.1:p.Leu54Ile, XP_047292857.1:p.Leu54Val, XP_047292857.1:p.Leu54Ile, XP_047292851.1:p.Leu54Val, XP_047292851.1:p.Leu54Ile, XP_047292852.1:p.Leu54Val, XP_047292852.1:p.Leu54Ile, XP_047292853.1:p.Leu54Val, XP_047292853.1:p.Leu54Ile, XP_047292858.1:p.Leu54Val, XP_047292858.1:p.Leu54Ile, XP_047292859.1:p.Leu54Val, XP_047292859.1:p.Leu54Ile

                                      19.

                                      rs1459305482 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        17:61808474 (GRCh38)
                                        17:59885835 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:61808473:C:A,NC_000017.11:61808473:C:G,NC_000017.11:61808473:C:T
                                        Gene:
                                        BRIP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.61808474C>A, NC_000017.11:g.61808474C>G, NC_000017.11:g.61808474C>T, NC_000017.10:g.59885835C>A, NC_000017.10:g.59885835C>G, NC_000017.10:g.59885835C>T, NG_007409.2:g.60086G>T, NG_007409.2:g.60086G>C, NG_007409.2:g.60086G>A, NM_032043.3:c.911G>T, NM_032043.3:c.911G>C, NM_032043.3:c.911G>A, NM_032043.2:c.911G>T, NM_032043.2:c.911G>C, NM_032043.2:c.911G>A, XM_011525332.4:c.911G>T, XM_011525332.4:c.911G>C, XM_011525332.4:c.911G>A, XM_011525332.3:c.911G>T, XM_011525332.3:c.911G>C, XM_011525332.3:c.911G>A, XM_011525332.2:c.911G>T, XM_011525332.2:c.911G>C, XM_011525332.2:c.911G>A, XM_011525332.1:c.911G>T, XM_011525332.1:c.911G>C, XM_011525332.1:c.911G>A, XM_011525333.4:c.911G>T, XM_011525333.4:c.911G>C, XM_011525333.4:c.911G>A, XM_011525333.3:c.911G>T, XM_011525333.3:c.911G>C, XM_011525333.3:c.911G>A, XM_011525333.2:c.911G>T, XM_011525333.2:c.911G>C, XM_011525333.2:c.911G>A, XM_011525333.1:c.911G>T, XM_011525333.1:c.911G>C, XM_011525333.1:c.911G>A, XM_011525335.4:c.911G>T, XM_011525335.4:c.911G>C, XM_011525335.4:c.911G>A, XM_011525335.3:c.911G>T, XM_011525335.3:c.911G>C, XM_011525335.3:c.911G>A, XM_011525335.2:c.911G>T, XM_011525335.2:c.911G>C, XM_011525335.2:c.911G>A, XM_011525335.1:c.911G>T, XM_011525335.1:c.911G>C, XM_011525335.1:c.911G>A, XM_011525340.4:c.911G>T, XM_011525340.4:c.911G>C, XM_011525340.4:c.911G>A, XM_011525340.3:c.911G>T, XM_011525340.3:c.911G>C, XM_011525340.3:c.911G>A, XM_011525340.2:c.911G>T, XM_011525340.2:c.911G>C, XM_011525340.2:c.911G>A, XM_011525340.1:c.911G>T, XM_011525340.1:c.911G>C, XM_011525340.1:c.911G>A, XM_011525339.4:c.911G>T, XM_011525339.4:c.911G>C, XM_011525339.4:c.911G>A, XM_011525339.3:c.911G>T, XM_011525339.3:c.911G>C, XM_011525339.3:c.911G>A, XM_011525339.2:c.911G>T, XM_011525339.2:c.911G>C, XM_011525339.2:c.911G>A, XM_011525339.1:c.911G>T, XM_011525339.1:c.911G>C, XM_011525339.1:c.911G>A, XM_011525341.4:c.911G>T, XM_011525341.4:c.911G>C, XM_011525341.4:c.911G>A, XM_011525341.3:c.911G>T, XM_011525341.3:c.911G>C, XM_011525341.3:c.911G>A, XM_011525341.2:c.911G>T, XM_011525341.2:c.911G>C, XM_011525341.2:c.911G>A, XM_011525341.1:c.911G>T, XM_011525341.1:c.911G>C, XM_011525341.1:c.911G>A, XM_011525334.3:c.911G>T, XM_011525334.3:c.911G>C, XM_011525334.3:c.911G>A, XM_011525334.2:c.911G>T, XM_011525334.2:c.911G>C, XM_011525334.2:c.911G>A, XM_011525334.1:c.911G>T, XM_011525334.1:c.911G>C, XM_011525334.1:c.911G>A, XM_011525336.3:c.911G>T, XM_011525336.3:c.911G>C, XM_011525336.3:c.911G>A, XM_011525336.2:c.911G>T, XM_011525336.2:c.911G>C, XM_011525336.2:c.911G>A, XM_011525336.1:c.911G>T, XM_011525336.1:c.911G>C, XM_011525336.1:c.911G>A, XM_047436892.1:c.911G>T, XM_047436892.1:c.911G>C, XM_047436892.1:c.911G>A, XM_047436894.1:c.911G>T, XM_047436894.1:c.911G>C, XM_047436894.1:c.911G>A, XM_047436891.1:c.911G>T, XM_047436891.1:c.911G>C, XM_047436891.1:c.911G>A, XM_047436893.1:c.911G>T, XM_047436893.1:c.911G>C, XM_047436893.1:c.911G>A, XM_047436899.1:c.911G>T, XM_047436899.1:c.911G>C, XM_047436899.1:c.911G>A, XM_047436904.1:c.911G>T, XM_047436904.1:c.911G>C, XM_047436904.1:c.911G>A, XM_047436900.1:c.911G>T, XM_047436900.1:c.911G>C, XM_047436900.1:c.911G>A, XM_047436901.1:c.911G>T, XM_047436901.1:c.911G>C, XM_047436901.1:c.911G>A, XM_047436895.1:c.911G>T, XM_047436895.1:c.911G>C, XM_047436895.1:c.911G>A, XM_047436896.1:c.911G>T, XM_047436896.1:c.911G>C, XM_047436896.1:c.911G>A, XM_047436897.1:c.911G>T, XM_047436897.1:c.911G>C, XM_047436897.1:c.911G>A, XM_047436902.1:c.911G>T, XM_047436902.1:c.911G>C, XM_047436902.1:c.911G>A, XM_047436903.1:c.911G>T, XM_047436903.1:c.911G>C, XM_047436903.1:c.911G>A, NP_114432.2:p.Gly304Val, NP_114432.2:p.Gly304Ala, NP_114432.2:p.Gly304Glu, XP_011523634.1:p.Gly304Val, XP_011523634.1:p.Gly304Ala, XP_011523634.1:p.Gly304Glu, XP_011523635.1:p.Gly304Val, XP_011523635.1:p.Gly304Ala, XP_011523635.1:p.Gly304Glu, XP_011523637.1:p.Gly304Val, XP_011523637.1:p.Gly304Ala, XP_011523637.1:p.Gly304Glu, XP_011523642.1:p.Gly304Val, XP_011523642.1:p.Gly304Ala, XP_011523642.1:p.Gly304Glu, XP_011523641.1:p.Gly304Val, XP_011523641.1:p.Gly304Ala, XP_011523641.1:p.Gly304Glu, XP_011523643.1:p.Gly304Val, XP_011523643.1:p.Gly304Ala, XP_011523643.1:p.Gly304Glu, XP_011523636.1:p.Gly304Val, XP_011523636.1:p.Gly304Ala, XP_011523636.1:p.Gly304Glu, XP_011523638.1:p.Gly304Val, XP_011523638.1:p.Gly304Ala, XP_011523638.1:p.Gly304Glu, XP_047292848.1:p.Gly304Val, XP_047292848.1:p.Gly304Ala, XP_047292848.1:p.Gly304Glu, XP_047292850.1:p.Gly304Val, XP_047292850.1:p.Gly304Ala, XP_047292850.1:p.Gly304Glu, XP_047292847.1:p.Gly304Val, XP_047292847.1:p.Gly304Ala, XP_047292847.1:p.Gly304Glu, XP_047292849.1:p.Gly304Val, XP_047292849.1:p.Gly304Ala, XP_047292849.1:p.Gly304Glu, XP_047292855.1:p.Gly304Val, XP_047292855.1:p.Gly304Ala, XP_047292855.1:p.Gly304Glu, XP_047292860.1:p.Gly304Val, XP_047292860.1:p.Gly304Ala, XP_047292860.1:p.Gly304Glu, XP_047292856.1:p.Gly304Val, XP_047292856.1:p.Gly304Ala, XP_047292856.1:p.Gly304Glu, XP_047292857.1:p.Gly304Val, XP_047292857.1:p.Gly304Ala, XP_047292857.1:p.Gly304Glu, XP_047292851.1:p.Gly304Val, XP_047292851.1:p.Gly304Ala, XP_047292851.1:p.Gly304Glu, XP_047292852.1:p.Gly304Val, XP_047292852.1:p.Gly304Ala, XP_047292852.1:p.Gly304Glu, XP_047292853.1:p.Gly304Val, XP_047292853.1:p.Gly304Ala, XP_047292853.1:p.Gly304Glu, XP_047292858.1:p.Gly304Val, XP_047292858.1:p.Gly304Ala, XP_047292858.1:p.Gly304Glu, XP_047292859.1:p.Gly304Val, XP_047292859.1:p.Gly304Ala, XP_047292859.1:p.Gly304Glu

                                        20.

                                        rs1458068665 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G,T [Show Flanks]
                                          Chromosome:
                                          17:61799118 (GRCh38)
                                          17:59876479 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:61799117:A:C,NC_000017.11:61799117:A:G,NC_000017.11:61799117:A:T
                                          Gene:
                                          BRIP1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (GnomAD_exomes)
                                          G=0.000042/11 (TOPMED)
                                          HGVS:
                                          NC_000017.11:g.61799118A>C, NC_000017.11:g.61799118A>G, NC_000017.11:g.61799118A>T, NC_000017.10:g.59876479A>C, NC_000017.10:g.59876479A>G, NC_000017.10:g.59876479A>T, NG_007409.2:g.69442T>G, NG_007409.2:g.69442T>C, NG_007409.2:g.69442T>A, NM_032043.3:c.1322T>G, NM_032043.3:c.1322T>C, NM_032043.3:c.1322T>A, NM_032043.2:c.1322T>G, NM_032043.2:c.1322T>C, NM_032043.2:c.1322T>A, XM_011525332.4:c.1322T>G, XM_011525332.4:c.1322T>C, XM_011525332.4:c.1322T>A, XM_011525332.3:c.1322T>G, XM_011525332.3:c.1322T>C, XM_011525332.3:c.1322T>A, XM_011525332.2:c.1322T>G, XM_011525332.2:c.1322T>C, XM_011525332.2:c.1322T>A, XM_011525332.1:c.1322T>G, XM_011525332.1:c.1322T>C, XM_011525332.1:c.1322T>A, XM_011525333.4:c.1322T>G, XM_011525333.4:c.1322T>C, XM_011525333.4:c.1322T>A, XM_011525333.3:c.1322T>G, XM_011525333.3:c.1322T>C, XM_011525333.3:c.1322T>A, XM_011525333.2:c.1322T>G, XM_011525333.2:c.1322T>C, XM_011525333.2:c.1322T>A, XM_011525333.1:c.1322T>G, XM_011525333.1:c.1322T>C, XM_011525333.1:c.1322T>A, XM_011525335.4:c.1322T>G, XM_011525335.4:c.1322T>C, XM_011525335.4:c.1322T>A, XM_011525335.3:c.1322T>G, XM_011525335.3:c.1322T>C, XM_011525335.3:c.1322T>A, XM_011525335.2:c.1322T>G, XM_011525335.2:c.1322T>C, XM_011525335.2:c.1322T>A, XM_011525335.1:c.1322T>G, XM_011525335.1:c.1322T>C, XM_011525335.1:c.1322T>A, XM_011525340.4:c.1322T>G, XM_011525340.4:c.1322T>C, XM_011525340.4:c.1322T>A, XM_011525340.3:c.1322T>G, XM_011525340.3:c.1322T>C, XM_011525340.3:c.1322T>A, XM_011525340.2:c.1322T>G, XM_011525340.2:c.1322T>C, XM_011525340.2:c.1322T>A, XM_011525340.1:c.1322T>G, XM_011525340.1:c.1322T>C, XM_011525340.1:c.1322T>A, XM_011525339.4:c.1322T>G, XM_011525339.4:c.1322T>C, XM_011525339.4:c.1322T>A, XM_011525339.3:c.1322T>G, XM_011525339.3:c.1322T>C, XM_011525339.3:c.1322T>A, XM_011525339.2:c.1322T>G, XM_011525339.2:c.1322T>C, XM_011525339.2:c.1322T>A, XM_011525339.1:c.1322T>G, XM_011525339.1:c.1322T>C, XM_011525339.1:c.1322T>A, XM_011525341.4:c.1322T>G, XM_011525341.4:c.1322T>C, XM_011525341.4:c.1322T>A, XM_011525341.3:c.1322T>G, XM_011525341.3:c.1322T>C, XM_011525341.3:c.1322T>A, XM_011525341.2:c.1322T>G, XM_011525341.2:c.1322T>C, XM_011525341.2:c.1322T>A, XM_011525341.1:c.1322T>G, XM_011525341.1:c.1322T>C, XM_011525341.1:c.1322T>A, XM_011525334.3:c.1322T>G, XM_011525334.3:c.1322T>C, XM_011525334.3:c.1322T>A, XM_011525334.2:c.1322T>G, XM_011525334.2:c.1322T>C, XM_011525334.2:c.1322T>A, XM_011525334.1:c.1322T>G, XM_011525334.1:c.1322T>C, XM_011525334.1:c.1322T>A, XM_011525336.3:c.1322T>G, XM_011525336.3:c.1322T>C, XM_011525336.3:c.1322T>A, XM_011525336.2:c.1322T>G, XM_011525336.2:c.1322T>C, XM_011525336.2:c.1322T>A, XM_011525336.1:c.1322T>G, XM_011525336.1:c.1322T>C, XM_011525336.1:c.1322T>A, XM_047436892.1:c.1322T>G, XM_047436892.1:c.1322T>C, XM_047436892.1:c.1322T>A, XM_047436894.1:c.1322T>G, XM_047436894.1:c.1322T>C, XM_047436894.1:c.1322T>A, XM_047436891.1:c.1322T>G, XM_047436891.1:c.1322T>C, XM_047436891.1:c.1322T>A, XM_047436893.1:c.1322T>G, XM_047436893.1:c.1322T>C, XM_047436893.1:c.1322T>A, XM_047436899.1:c.1322T>G, XM_047436899.1:c.1322T>C, XM_047436899.1:c.1322T>A, XM_047436904.1:c.1322T>G, XM_047436904.1:c.1322T>C, XM_047436904.1:c.1322T>A, XM_047436900.1:c.1322T>G, XM_047436900.1:c.1322T>C, XM_047436900.1:c.1322T>A, XM_047436901.1:c.1322T>G, XM_047436901.1:c.1322T>C, XM_047436901.1:c.1322T>A, XM_047436895.1:c.1322T>G, XM_047436895.1:c.1322T>C, XM_047436895.1:c.1322T>A, XM_047436896.1:c.1322T>G, XM_047436896.1:c.1322T>C, XM_047436896.1:c.1322T>A, XM_047436897.1:c.1322T>G, XM_047436897.1:c.1322T>C, XM_047436897.1:c.1322T>A, XM_047436902.1:c.1322T>G, XM_047436902.1:c.1322T>C, XM_047436902.1:c.1322T>A, XM_047436903.1:c.1322T>G, XM_047436903.1:c.1322T>C, XM_047436903.1:c.1322T>A, NP_114432.2:p.Val441Gly, NP_114432.2:p.Val441Ala, NP_114432.2:p.Val441Glu, XP_011523634.1:p.Val441Gly, XP_011523634.1:p.Val441Ala, XP_011523634.1:p.Val441Glu, XP_011523635.1:p.Val441Gly, XP_011523635.1:p.Val441Ala, XP_011523635.1:p.Val441Glu, XP_011523637.1:p.Val441Gly, XP_011523637.1:p.Val441Ala, XP_011523637.1:p.Val441Glu, XP_011523642.1:p.Val441Gly, XP_011523642.1:p.Val441Ala, XP_011523642.1:p.Val441Glu, XP_011523641.1:p.Val441Gly, XP_011523641.1:p.Val441Ala, XP_011523641.1:p.Val441Glu, XP_011523643.1:p.Val441Gly, XP_011523643.1:p.Val441Ala, XP_011523643.1:p.Val441Glu, XP_011523636.1:p.Val441Gly, XP_011523636.1:p.Val441Ala, XP_011523636.1:p.Val441Glu, XP_011523638.1:p.Val441Gly, XP_011523638.1:p.Val441Ala, XP_011523638.1:p.Val441Glu, XP_047292848.1:p.Val441Gly, XP_047292848.1:p.Val441Ala, XP_047292848.1:p.Val441Glu, XP_047292850.1:p.Val441Gly, XP_047292850.1:p.Val441Ala, XP_047292850.1:p.Val441Glu, XP_047292847.1:p.Val441Gly, XP_047292847.1:p.Val441Ala, XP_047292847.1:p.Val441Glu, XP_047292849.1:p.Val441Gly, XP_047292849.1:p.Val441Ala, XP_047292849.1:p.Val441Glu, XP_047292855.1:p.Val441Gly, XP_047292855.1:p.Val441Ala, XP_047292855.1:p.Val441Glu, XP_047292860.1:p.Val441Gly, XP_047292860.1:p.Val441Ala, XP_047292860.1:p.Val441Glu, XP_047292856.1:p.Val441Gly, XP_047292856.1:p.Val441Ala, XP_047292856.1:p.Val441Glu, XP_047292857.1:p.Val441Gly, XP_047292857.1:p.Val441Ala, XP_047292857.1:p.Val441Glu, XP_047292851.1:p.Val441Gly, XP_047292851.1:p.Val441Ala, XP_047292851.1:p.Val441Glu, XP_047292852.1:p.Val441Gly, XP_047292852.1:p.Val441Ala, XP_047292852.1:p.Val441Glu, XP_047292853.1:p.Val441Gly, XP_047292853.1:p.Val441Ala, XP_047292853.1:p.Val441Glu, XP_047292858.1:p.Val441Gly, XP_047292858.1:p.Val441Ala, XP_047292858.1:p.Val441Glu, XP_047292859.1:p.Val441Gly, XP_047292859.1:p.Val441Ala, XP_047292859.1:p.Val441Glu

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