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Items: 1 to 20 of 316

1.

rs1490408522 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:4548094 (GRCh38)
    12:4657260 (GRCh37)
    Canonical SPDI:
    NC_000012.12:4548093:A:G
    Gene:
    RAD51AP1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.4548094A>G, NC_000012.11:g.4657260A>G, NM_006479.5:c.322A>G, NM_006479.4:c.322A>G, NM_001130862.2:c.373A>G, NM_001130862.1:c.373A>G, XM_047428085.1:c.373A>G, XM_047428086.1:c.322A>G, XM_047428087.1:c.211A>G, XM_047428088.1:c.211A>G, XM_047428092.1:c.112A>G, XM_047428093.1:c.112A>G, XM_047428089.1:c.373A>G, XM_047428091.1:c.112A>G, XM_047428090.1:c.322A>G, XM_047428095.1:c.373A>G, XM_047428094.1:c.112A>G, XM_047428097.1:c.322A>G, NM_001410959.1:c.322A>G, XM_047428098.1:c.-33A>G, XM_047428096.1:c.373A>G, XM_047428099.1:c.322A>G, NP_006470.1:p.Ile108Val, NP_001124334.1:p.Ile125Val, XP_047284041.1:p.Ile125Val, XP_047284042.1:p.Ile108Val, XP_047284043.1:p.Ile71Val, XP_047284044.1:p.Ile71Val, XP_047284048.1:p.Ile38Val, XP_047284049.1:p.Ile38Val, XP_047284045.1:p.Ile125Val, XP_047284047.1:p.Ile38Val, XP_047284046.1:p.Ile108Val, XP_047284051.1:p.Ile125Val, XP_047284050.1:p.Ile38Val, XP_047284053.1:p.Ile108Val, XP_047284052.1:p.Ile125Val, XP_047284055.1:p.Ile108Val

    2.

    rs1489527402 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      12:4553046 (GRCh38)
      12:4662212 (GRCh37)
      Canonical SPDI:
      NC_000012.12:4553045:T:A
      Gene:
      RAD51AP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.4553046T>A, NC_000012.11:g.4662212T>A, NM_006479.5:c.620T>A, NM_006479.4:c.620T>A, NM_001130862.2:c.671T>A, NM_001130862.1:c.671T>A, XM_047428085.1:c.671T>A, XM_047428086.1:c.620T>A, XM_047428087.1:c.509T>A, XM_047428088.1:c.509T>A, XM_047428092.1:c.410T>A, XM_047428093.1:c.410T>A, XM_047428089.1:c.671T>A, XM_047428091.1:c.410T>A, XM_047428090.1:c.620T>A, XM_047428095.1:c.671T>A, XM_047428094.1:c.410T>A, XM_047428097.1:c.620T>A, NM_001410959.1:c.620T>A, XM_047428098.1:c.266T>A, XM_047428096.1:c.671T>A, XM_047428099.1:c.620T>A, NP_006470.1:p.Met207Lys, NP_001124334.1:p.Met224Lys, XP_047284041.1:p.Met224Lys, XP_047284042.1:p.Met207Lys, XP_047284043.1:p.Met170Lys, XP_047284044.1:p.Met170Lys, XP_047284048.1:p.Met137Lys, XP_047284049.1:p.Met137Lys, XP_047284045.1:p.Met224Lys, XP_047284047.1:p.Met137Lys, XP_047284046.1:p.Met207Lys, XP_047284051.1:p.Met224Lys, XP_047284050.1:p.Met137Lys, XP_047284053.1:p.Met207Lys, XP_047284054.1:p.Met89Lys, XP_047284052.1:p.Met224Lys, XP_047284055.1:p.Met207Lys

      3.

      rs1486157076 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        12:4558965 (GRCh38)
        12:4668131 (GRCh37)
        Canonical SPDI:
        NC_000012.12:4558964:C:G
        Gene:
        RAD51AP1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000012.12:g.4558965C>G, NC_000012.11:g.4668131C>G, NM_006479.5:c.980C>G, NM_006479.4:c.980C>G, NM_001130862.2:c.1031C>G, NM_001130862.1:c.1031C>G, XM_047428085.1:c.1079C>G, XM_047428086.1:c.1028C>G, XM_047428087.1:c.917C>G, XM_047428088.1:c.917C>G, XM_047428092.1:c.818C>G, XM_047428093.1:c.770C>G, XM_047428089.1:c.881C>G, XM_047428091.1:c.818C>G, XM_047428090.1:c.830C>G, XM_047428095.1:c.*64C>G, XM_047428094.1:c.770C>G, XM_047428097.1:c.*64C>G, NM_001410959.1:c.*64C>G, XM_047428098.1:c.674C>G, NP_006470.1:p.Pro327Arg, NP_001124334.1:p.Pro344Arg, XP_047284041.1:p.Pro360Arg, XP_047284042.1:p.Pro343Arg, XP_047284043.1:p.Pro306Arg, XP_047284044.1:p.Pro306Arg, XP_047284048.1:p.Pro273Arg, XP_047284049.1:p.Pro257Arg, XP_047284045.1:p.Pro294Arg, XP_047284047.1:p.Pro273Arg, XP_047284046.1:p.Pro277Arg, XP_047284050.1:p.Pro257Arg, XP_047284054.1:p.Pro225Arg

        4.

        rs1473207658 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:4558860 (GRCh38)
          12:4668026 (GRCh37)
          Canonical SPDI:
          NC_000012.12:4558859:C:A
          Gene:
          RAD51AP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.4558860C>A, NC_000012.11:g.4668026C>A, NM_006479.5:c.875C>A, NM_006479.4:c.875C>A, NM_001130862.2:c.926C>A, NM_001130862.1:c.926C>A, XM_047428085.1:c.974C>A, XM_047428086.1:c.923C>A, XM_047428087.1:c.812C>A, XM_047428088.1:c.812C>A, XM_047428092.1:c.713C>A, XM_047428093.1:c.665C>A, XM_047428089.1:c.776C>A, XM_047428091.1:c.713C>A, XM_047428090.1:c.725C>A, XM_047428095.1:c.718C>A, XM_047428094.1:c.665C>A, XM_047428097.1:c.667C>A, NM_001410959.1:c.667C>A, XM_047428098.1:c.569C>A, NP_006470.1:p.Ala292Glu, NP_001124334.1:p.Ala309Glu, XP_047284041.1:p.Ala325Glu, XP_047284042.1:p.Ala308Glu, XP_047284043.1:p.Ala271Glu, XP_047284044.1:p.Ala271Glu, XP_047284048.1:p.Ala238Glu, XP_047284049.1:p.Ala222Glu, XP_047284045.1:p.Ala259Glu, XP_047284047.1:p.Ala238Glu, XP_047284046.1:p.Ala242Glu, XP_047284051.1:p.His240Asn, XP_047284050.1:p.Ala222Glu, XP_047284053.1:p.His223Asn, XP_047284054.1:p.Ala190Glu

          5.

          rs1472356379 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:4548736 (GRCh38)
            12:4657902 (GRCh37)
            Canonical SPDI:
            NC_000012.12:4548735:A:G
            Gene:
            RAD51AP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000084/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000007/1 (GnomAD)
            G=0.000011/3 (TOPMED)
            HGVS:

            6.

            rs1468723998 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:4548744 (GRCh38)
              12:4657910 (GRCh37)
              Canonical SPDI:
              NC_000012.12:4548743:C:T
              Gene:
              RAD51AP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000012.12:g.4548744C>T, NC_000012.11:g.4657910C>T, NM_006479.5:c.464C>T, NM_006479.4:c.464C>T, NM_001130862.2:c.515C>T, NM_001130862.1:c.515C>T, XM_047428085.1:c.515C>T, XM_047428086.1:c.464C>T, XM_047428087.1:c.353C>T, XM_047428088.1:c.353C>T, XM_047428092.1:c.254C>T, XM_047428093.1:c.254C>T, XM_047428089.1:c.515C>T, XM_047428091.1:c.254C>T, XM_047428090.1:c.464C>T, XM_047428095.1:c.515C>T, XM_047428094.1:c.254C>T, XM_047428097.1:c.464C>T, NM_001410959.1:c.464C>T, XM_047428098.1:c.110C>T, XM_047428096.1:c.515C>T, XM_047428099.1:c.464C>T, NP_006470.1:p.Ala155Val, NP_001124334.1:p.Ala172Val, XP_047284041.1:p.Ala172Val, XP_047284042.1:p.Ala155Val, XP_047284043.1:p.Ala118Val, XP_047284044.1:p.Ala118Val, XP_047284048.1:p.Ala85Val, XP_047284049.1:p.Ala85Val, XP_047284045.1:p.Ala172Val, XP_047284047.1:p.Ala85Val, XP_047284046.1:p.Ala155Val, XP_047284051.1:p.Ala172Val, XP_047284050.1:p.Ala85Val, XP_047284053.1:p.Ala155Val, XP_047284054.1:p.Ala37Val, XP_047284052.1:p.Ala172Val, XP_047284055.1:p.Ala155Val

              7.

              rs1463029032 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                12:4543825 (GRCh38)
                12:4652991 (GRCh37)
                Canonical SPDI:
                NC_000012.12:4543824:A:C
                Gene:
                RAD51AP1 (Varview)
                Functional Consequence:
                missense_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000023/6 (TOPMED)
                C=0.000029/4 (GnomAD)
                HGVS:

                8.

                rs1461269361 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  12:4546358 (GRCh38)
                  12:4655524 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:4546357:G:C
                  Gene:
                  RAD51AP1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.4546358G>C, NC_000012.11:g.4655524G>C, NM_006479.5:c.259G>C, NM_006479.4:c.259G>C, NM_001130862.2:c.310G>C, NM_001130862.1:c.310G>C, XM_047428085.1:c.310G>C, XM_047428086.1:c.259G>C, XM_047428087.1:c.148G>C, XM_047428088.1:c.148G>C, XM_047428092.1:c.49G>C, XM_047428093.1:c.49G>C, XM_047428089.1:c.310G>C, XM_047428091.1:c.49G>C, XM_047428090.1:c.259G>C, XM_047428095.1:c.310G>C, XM_047428094.1:c.49G>C, XM_047428097.1:c.259G>C, NM_001410959.1:c.259G>C, XM_047428096.1:c.310G>C, XM_047428099.1:c.259G>C, NP_006470.1:p.Ala87Pro, NP_001124334.1:p.Ala104Pro, XP_047284041.1:p.Ala104Pro, XP_047284042.1:p.Ala87Pro, XP_047284043.1:p.Ala50Pro, XP_047284044.1:p.Ala50Pro, XP_047284048.1:p.Ala17Pro, XP_047284049.1:p.Ala17Pro, XP_047284045.1:p.Ala104Pro, XP_047284047.1:p.Ala17Pro, XP_047284046.1:p.Ala87Pro, XP_047284051.1:p.Ala104Pro, XP_047284050.1:p.Ala17Pro, XP_047284053.1:p.Ala87Pro, XP_047284052.1:p.Ala104Pro, XP_047284055.1:p.Ala87Pro

                  9.

                  rs1459948764 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    12:4548714 (GRCh38)
                    12:4657880 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:4548713:A:G,NC_000012.12:4548713:A:T
                    Gene:
                    RAD51AP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000031/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.4548714A>G, NC_000012.12:g.4548714A>T, NC_000012.11:g.4657880A>G, NC_000012.11:g.4657880A>T, NM_006479.5:c.434A>G, NM_006479.5:c.434A>T, NM_006479.4:c.434A>G, NM_006479.4:c.434A>T, NM_001130862.2:c.485A>G, NM_001130862.2:c.485A>T, NM_001130862.1:c.485A>G, NM_001130862.1:c.485A>T, XM_047428085.1:c.485A>G, XM_047428085.1:c.485A>T, XM_047428086.1:c.434A>G, XM_047428086.1:c.434A>T, XM_047428087.1:c.323A>G, XM_047428087.1:c.323A>T, XM_047428088.1:c.323A>G, XM_047428088.1:c.323A>T, XM_047428092.1:c.224A>G, XM_047428092.1:c.224A>T, XM_047428093.1:c.224A>G, XM_047428093.1:c.224A>T, XM_047428089.1:c.485A>G, XM_047428089.1:c.485A>T, XM_047428091.1:c.224A>G, XM_047428091.1:c.224A>T, XM_047428090.1:c.434A>G, XM_047428090.1:c.434A>T, XM_047428095.1:c.485A>G, XM_047428095.1:c.485A>T, XM_047428094.1:c.224A>G, XM_047428094.1:c.224A>T, XM_047428097.1:c.434A>G, XM_047428097.1:c.434A>T, NM_001410959.1:c.434A>G, NM_001410959.1:c.434A>T, XM_047428098.1:c.80A>G, XM_047428098.1:c.80A>T, XM_047428096.1:c.485A>G, XM_047428096.1:c.485A>T, XM_047428099.1:c.434A>G, XM_047428099.1:c.434A>T, NP_006470.1:p.Asp145Gly, NP_006470.1:p.Asp145Val, NP_001124334.1:p.Asp162Gly, NP_001124334.1:p.Asp162Val, XP_047284041.1:p.Asp162Gly, XP_047284041.1:p.Asp162Val, XP_047284042.1:p.Asp145Gly, XP_047284042.1:p.Asp145Val, XP_047284043.1:p.Asp108Gly, XP_047284043.1:p.Asp108Val, XP_047284044.1:p.Asp108Gly, XP_047284044.1:p.Asp108Val, XP_047284048.1:p.Asp75Gly, XP_047284048.1:p.Asp75Val, XP_047284049.1:p.Asp75Gly, XP_047284049.1:p.Asp75Val, XP_047284045.1:p.Asp162Gly, XP_047284045.1:p.Asp162Val, XP_047284047.1:p.Asp75Gly, XP_047284047.1:p.Asp75Val, XP_047284046.1:p.Asp145Gly, XP_047284046.1:p.Asp145Val, XP_047284051.1:p.Asp162Gly, XP_047284051.1:p.Asp162Val, XP_047284050.1:p.Asp75Gly, XP_047284050.1:p.Asp75Val, XP_047284053.1:p.Asp145Gly, XP_047284053.1:p.Asp145Val, XP_047284054.1:p.Asp27Gly, XP_047284054.1:p.Asp27Val, XP_047284052.1:p.Asp162Gly, XP_047284052.1:p.Asp162Val, XP_047284055.1:p.Asp145Gly, XP_047284055.1:p.Asp145Val

                    10.

                    rs1458418795 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      12:4546321 (GRCh38)
                      12:4655487 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:4546320:T:G
                      Gene:
                      RAD51AP1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.4546321T>G, NC_000012.11:g.4655487T>G, NM_006479.5:c.222T>G, NM_006479.4:c.222T>G, NM_001130862.2:c.273T>G, NM_001130862.1:c.273T>G, XM_047428085.1:c.273T>G, XM_047428086.1:c.222T>G, XM_047428087.1:c.111T>G, XM_047428088.1:c.111T>G, XM_047428092.1:c.12T>G, XM_047428093.1:c.12T>G, XM_047428089.1:c.273T>G, XM_047428091.1:c.12T>G, XM_047428090.1:c.222T>G, XM_047428095.1:c.273T>G, XM_047428094.1:c.12T>G, XM_047428097.1:c.222T>G, NM_001410959.1:c.222T>G, XM_047428096.1:c.273T>G, XM_047428099.1:c.222T>G, NP_006470.1:p.Asp74Glu, NP_001124334.1:p.Asp91Glu, XP_047284041.1:p.Asp91Glu, XP_047284042.1:p.Asp74Glu, XP_047284043.1:p.Asp37Glu, XP_047284044.1:p.Asp37Glu, XP_047284048.1:p.Asp4Glu, XP_047284049.1:p.Asp4Glu, XP_047284045.1:p.Asp91Glu, XP_047284047.1:p.Asp4Glu, XP_047284046.1:p.Asp74Glu, XP_047284051.1:p.Asp91Glu, XP_047284050.1:p.Asp4Glu, XP_047284053.1:p.Asp74Glu, XP_047284052.1:p.Asp91Glu, XP_047284055.1:p.Asp74Glu

                      11.

                      rs1453196197 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:4546331 (GRCh38)
                        12:4655497 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:4546330:T:C
                        Gene:
                        RAD51AP1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000111/1 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.4546331T>C, NC_000012.11:g.4655497T>C, NM_006479.5:c.232T>C, NM_006479.4:c.232T>C, NM_001130862.2:c.283T>C, NM_001130862.1:c.283T>C, XM_047428085.1:c.283T>C, XM_047428086.1:c.232T>C, XM_047428087.1:c.121T>C, XM_047428088.1:c.121T>C, XM_047428092.1:c.22T>C, XM_047428093.1:c.22T>C, XM_047428089.1:c.283T>C, XM_047428091.1:c.22T>C, XM_047428090.1:c.232T>C, XM_047428095.1:c.283T>C, XM_047428094.1:c.22T>C, XM_047428097.1:c.232T>C, NM_001410959.1:c.232T>C, XM_047428096.1:c.283T>C, XM_047428099.1:c.232T>C, NP_006470.1:p.Tyr78His, NP_001124334.1:p.Tyr95His, XP_047284041.1:p.Tyr95His, XP_047284042.1:p.Tyr78His, XP_047284043.1:p.Tyr41His, XP_047284044.1:p.Tyr41His, XP_047284048.1:p.Tyr8His, XP_047284049.1:p.Tyr8His, XP_047284045.1:p.Tyr95His, XP_047284047.1:p.Tyr8His, XP_047284046.1:p.Tyr78His, XP_047284051.1:p.Tyr95His, XP_047284050.1:p.Tyr8His, XP_047284053.1:p.Tyr78His, XP_047284052.1:p.Tyr95His, XP_047284055.1:p.Tyr78His

                        12.

                        rs1451583880 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          12:4553052 (GRCh38)
                          12:4662218 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:4553051:A:G
                          Gene:
                          RAD51AP1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000012.12:g.4553052A>G, NC_000012.11:g.4662218A>G, NM_006479.5:c.626A>G, NM_006479.4:c.626A>G, NM_001130862.2:c.677A>G, NM_001130862.1:c.677A>G, XM_047428085.1:c.677A>G, XM_047428086.1:c.626A>G, XM_047428087.1:c.515A>G, XM_047428088.1:c.515A>G, XM_047428092.1:c.416A>G, XM_047428093.1:c.416A>G, XM_047428089.1:c.677A>G, XM_047428091.1:c.416A>G, XM_047428090.1:c.626A>G, XM_047428095.1:c.677A>G, XM_047428094.1:c.416A>G, XM_047428097.1:c.626A>G, NM_001410959.1:c.626A>G, XM_047428098.1:c.272A>G, XM_047428096.1:c.677A>G, XM_047428099.1:c.626A>G, NP_006470.1:p.Lys209Arg, NP_001124334.1:p.Lys226Arg, XP_047284041.1:p.Lys226Arg, XP_047284042.1:p.Lys209Arg, XP_047284043.1:p.Lys172Arg, XP_047284044.1:p.Lys172Arg, XP_047284048.1:p.Lys139Arg, XP_047284049.1:p.Lys139Arg, XP_047284045.1:p.Lys226Arg, XP_047284047.1:p.Lys139Arg, XP_047284046.1:p.Lys209Arg, XP_047284051.1:p.Lys226Arg, XP_047284050.1:p.Lys139Arg, XP_047284053.1:p.Lys209Arg, XP_047284054.1:p.Lys91Arg, XP_047284052.1:p.Lys226Arg, XP_047284055.1:p.Lys209Arg

                          13.

                          rs1451080740 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:4553092 (GRCh38)
                            12:4662258 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:4553091:A:G
                            Gene:
                            RAD51AP1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1446436126 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:4552993 (GRCh38)
                              12:4662159 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:4552992:T:C
                              Gene:
                              RAD51AP1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000008/2 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              C=0.000035/1 (TOMMO)
                              HGVS:

                              15.

                              rs1443233817 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AG>- [Show Flanks]
                                Chromosome:
                                12:4558925 (GRCh38)
                                12:4668091 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:4558922:AGAG:AG
                                Gene:
                                RAD51AP1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                HGVS:
                                NC_000012.12:g.4558923AG[1], NC_000012.11:g.4668089AG[1], NM_006479.5:c.940_941del, NM_006479.4:c.940_941del, NM_001130862.2:c.991_992del, NM_001130862.1:c.991_992del, XM_047428085.1:c.1039_1040del, XM_047428086.1:c.988_989del, XM_047428087.1:c.877_878del, XM_047428088.1:c.877_878del, XM_047428092.1:c.778_779del, XM_047428093.1:c.730_731del, XM_047428089.1:c.841_842del, XM_047428091.1:c.778_779del, XM_047428090.1:c.790_791del, XM_047428095.1:c.*22AG[1], XM_047428094.1:c.730_731del, XM_047428097.1:c.*22AG[1], NM_001410959.1:c.*22AG[1], XM_047428098.1:c.634_635del, NP_006470.1:p.Leu315fs, NP_001124334.1:p.Leu332fs, XP_047284041.1:p.Leu348fs, XP_047284042.1:p.Leu331fs, XP_047284043.1:p.Leu294fs, XP_047284044.1:p.Leu294fs, XP_047284048.1:p.Leu261fs, XP_047284049.1:p.Leu245fs, XP_047284045.1:p.Leu282fs, XP_047284047.1:p.Leu261fs, XP_047284046.1:p.Leu265fs, XP_047284050.1:p.Leu245fs, XP_047284054.1:p.Leu213fs

                                16.

                                rs1435446532 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  12:4552997 (GRCh38)
                                  12:4662163 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:4552996:G:A
                                  Gene:
                                  RAD51AP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.4552997G>A, NC_000012.11:g.4662163G>A, NM_006479.5:c.571G>A, NM_006479.4:c.571G>A, NM_001130862.2:c.622G>A, NM_001130862.1:c.622G>A, XM_047428085.1:c.622G>A, XM_047428086.1:c.571G>A, XM_047428087.1:c.460G>A, XM_047428088.1:c.460G>A, XM_047428092.1:c.361G>A, XM_047428093.1:c.361G>A, XM_047428089.1:c.622G>A, XM_047428091.1:c.361G>A, XM_047428090.1:c.571G>A, XM_047428095.1:c.622G>A, XM_047428094.1:c.361G>A, XM_047428097.1:c.571G>A, NM_001410959.1:c.571G>A, XM_047428098.1:c.217G>A, XM_047428096.1:c.622G>A, XM_047428099.1:c.571G>A, NP_006470.1:p.Asp191Asn, NP_001124334.1:p.Asp208Asn, XP_047284041.1:p.Asp208Asn, XP_047284042.1:p.Asp191Asn, XP_047284043.1:p.Asp154Asn, XP_047284044.1:p.Asp154Asn, XP_047284048.1:p.Asp121Asn, XP_047284049.1:p.Asp121Asn, XP_047284045.1:p.Asp208Asn, XP_047284047.1:p.Asp121Asn, XP_047284046.1:p.Asp191Asn, XP_047284051.1:p.Asp208Asn, XP_047284050.1:p.Asp121Asn, XP_047284053.1:p.Asp191Asn, XP_047284054.1:p.Asp73Asn, XP_047284052.1:p.Asp208Asn, XP_047284055.1:p.Asp191Asn

                                  17.

                                  rs1430867745 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    12:4553004 (GRCh38)
                                    12:4662170 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:4553003:C:G
                                    Gene:
                                    RAD51AP1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.4553004C>G, NC_000012.11:g.4662170C>G, NM_006479.5:c.578C>G, NM_006479.4:c.578C>G, NM_001130862.2:c.629C>G, NM_001130862.1:c.629C>G, XM_047428085.1:c.629C>G, XM_047428086.1:c.578C>G, XM_047428087.1:c.467C>G, XM_047428088.1:c.467C>G, XM_047428092.1:c.368C>G, XM_047428093.1:c.368C>G, XM_047428089.1:c.629C>G, XM_047428091.1:c.368C>G, XM_047428090.1:c.578C>G, XM_047428095.1:c.629C>G, XM_047428094.1:c.368C>G, XM_047428097.1:c.578C>G, NM_001410959.1:c.578C>G, XM_047428098.1:c.224C>G, XM_047428096.1:c.629C>G, XM_047428099.1:c.578C>G, NP_006470.1:p.Ser193Cys, NP_001124334.1:p.Ser210Cys, XP_047284041.1:p.Ser210Cys, XP_047284042.1:p.Ser193Cys, XP_047284043.1:p.Ser156Cys, XP_047284044.1:p.Ser156Cys, XP_047284048.1:p.Ser123Cys, XP_047284049.1:p.Ser123Cys, XP_047284045.1:p.Ser210Cys, XP_047284047.1:p.Ser123Cys, XP_047284046.1:p.Ser193Cys, XP_047284051.1:p.Ser210Cys, XP_047284050.1:p.Ser123Cys, XP_047284053.1:p.Ser193Cys, XP_047284054.1:p.Ser75Cys, XP_047284052.1:p.Ser210Cys, XP_047284055.1:p.Ser193Cys

                                    18.

                                    rs1427744763 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:4558944 (GRCh38)
                                      12:4668110 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:4558943:C:A
                                      Gene:
                                      RAD51AP1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.4558944C>A, NC_000012.11:g.4668110C>A, NM_006479.5:c.959C>A, NM_006479.4:c.959C>A, NM_001130862.2:c.1010C>A, NM_001130862.1:c.1010C>A, XM_047428085.1:c.1058C>A, XM_047428086.1:c.1007C>A, XM_047428087.1:c.896C>A, XM_047428088.1:c.896C>A, XM_047428092.1:c.797C>A, XM_047428093.1:c.749C>A, XM_047428089.1:c.860C>A, XM_047428091.1:c.797C>A, XM_047428090.1:c.809C>A, XM_047428095.1:c.*43C>A, XM_047428094.1:c.749C>A, XM_047428097.1:c.*43C>A, NM_001410959.1:c.*43C>A, XM_047428098.1:c.653C>A, NP_006470.1:p.Ser320Tyr, NP_001124334.1:p.Ser337Tyr, XP_047284041.1:p.Ser353Tyr, XP_047284042.1:p.Ser336Tyr, XP_047284043.1:p.Ser299Tyr, XP_047284044.1:p.Ser299Tyr, XP_047284048.1:p.Ser266Tyr, XP_047284049.1:p.Ser250Tyr, XP_047284045.1:p.Ser287Tyr, XP_047284047.1:p.Ser266Tyr, XP_047284046.1:p.Ser270Tyr, XP_047284050.1:p.Ser250Tyr, XP_047284054.1:p.Ser218Tyr

                                      19.

                                      rs1426362946 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:4543796 (GRCh38)
                                        12:4652962 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:4543795:A:G
                                        Gene:
                                        RAD51AP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1425371962 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          12:4548718 (GRCh38)
                                          12:4657884 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:4548717:T:G
                                          Gene:
                                          RAD51AP1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000012/3 (GnomAD_exomes)
                                          G=0.000177/3 (TOMMO)
                                          HGVS:

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