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Items: 1 to 20 of 613

1.

rs1483951598 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:138905117 (GRCh38)
    6:139226254 (GRCh37)
    Canonical SPDI:
    NC_000006.12:138905116:T:C
    Gene:
    REPS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000006.12:g.138905117T>C, NC_000006.11:g.139226254T>C, NG_034016.1:g.88145A>G, NM_031922.5:c.2335A>G, NM_031922.4:c.2335A>G, NM_031922.3:c.2335A>G, NM_001128617.3:c.2257A>G, NM_001128617.2:c.2257A>G, NM_001128617.1:c.2257A>G, NM_001286611.2:c.2338A>G, NM_001286611.1:c.2338A>G, NM_001286612.2:c.2065A>G, NM_001286612.1:c.2065A>G, XM_005267178.6:c.2232A>G, XM_005267178.5:c.2232A>G, XM_005267178.4:c.2232A>G, XM_005267178.3:c.2232A>G, XM_005267178.2:c.2232A>G, XM_005267178.1:c.2232A>G, XM_005267177.5:c.2335A>G, XM_005267177.4:c.2335A>G, XM_005267177.3:c.2335A>G, XM_005267177.2:c.2335A>G, XM_005267177.1:c.2335A>G, XM_005267179.5:c.2254A>G, XM_005267179.4:c.2254A>G, XM_005267179.3:c.2254A>G, XM_005267179.2:c.2254A>G, XM_005267179.1:c.2254A>G, XM_011536202.3:c.2203A>G, XM_011536202.2:c.2203A>G, XM_011536202.1:c.2203A>G, XM_017011387.3:c.2332A>G, XM_017011387.2:c.2332A>G, XM_017011387.1:c.2332A>G, XM_017011388.3:c.2097A>G, XM_017011388.2:c.2097A>G, XM_017011388.1:c.2097A>G, XM_017011389.2:c.2122A>G, XM_017011389.1:c.2122A>G, XM_047419428.1:c.2229A>G, XM_047419427.1:c.2229A>G, XM_047419429.1:c.2226A>G, XM_047419431.1:c.2151A>G, XM_047419432.1:c.2148A>G, XM_047419430.1:c.2200A>G, XM_047419433.1:c.2119A>G, XM_047419434.1:c.2016A>G, NP_114128.3:p.Arg779Gly, NP_001122089.1:p.Arg753Gly, NP_001273540.1:p.Arg780Gly, NP_001273541.1:p.Arg689Gly, XP_005267234.1:p.Arg779Gly, XP_005267236.1:p.Arg752Gly, XP_011534504.1:p.Arg735Gly, XP_016866876.1:p.Arg778Gly, XP_016866878.1:p.Arg708Gly, XP_047275386.1:p.Arg734Gly, XP_047275389.1:p.Arg707Gly

    2.

    rs1483841521 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      6:138944524 (GRCh38)
      6:139265661 (GRCh37)
      Canonical SPDI:
      NC_000006.12:138944523:A:C
      Gene:
      REPS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.138944524A>C, NC_000006.11:g.139265661A>C, NG_034016.1:g.48738T>G, NM_031922.5:c.727T>G, NM_031922.4:c.727T>G, NM_031922.3:c.727T>G, NM_001128617.3:c.727T>G, NM_001128617.2:c.727T>G, NM_001128617.1:c.727T>G, NM_001286611.2:c.727T>G, NM_001286611.1:c.727T>G, NM_001286612.2:c.727T>G, NM_001286612.1:c.727T>G, XM_005267178.6:c.727T>G, XM_005267178.5:c.727T>G, XM_005267178.4:c.727T>G, XM_005267178.3:c.727T>G, XM_005267178.2:c.727T>G, XM_005267178.1:c.727T>G, XM_005267177.5:c.727T>G, XM_005267177.4:c.727T>G, XM_005267177.3:c.727T>G, XM_005267177.2:c.727T>G, XM_005267177.1:c.727T>G, XM_005267179.5:c.727T>G, XM_005267179.4:c.727T>G, XM_005267179.3:c.727T>G, XM_005267179.2:c.727T>G, XM_005267179.1:c.727T>G, XM_011536202.3:c.592T>G, XM_011536202.2:c.592T>G, XM_011536202.1:c.592T>G, XM_017011387.3:c.727T>G, XM_017011387.2:c.727T>G, XM_017011387.1:c.727T>G, XM_017011388.3:c.592T>G, XM_017011388.2:c.592T>G, XM_017011388.1:c.592T>G, XM_017011389.2:c.592T>G, XM_017011389.1:c.592T>G, XM_047419428.1:c.727T>G, XM_047419427.1:c.727T>G, XM_047419429.1:c.727T>G, XM_047419431.1:c.727T>G, XM_047419432.1:c.727T>G, XM_047419430.1:c.592T>G, XM_047419433.1:c.592T>G, XM_047419434.1:c.592T>G, NP_114128.3:p.Leu243Val, NP_001122089.1:p.Leu243Val, NP_001273540.1:p.Leu243Val, NP_001273541.1:p.Leu243Val, XP_005267235.1:p.Leu243Val, XP_005267234.1:p.Leu243Val, XP_005267236.1:p.Leu243Val, XP_011534504.1:p.Leu198Val, XP_016866876.1:p.Leu243Val, XP_016866877.1:p.Leu198Val, XP_016866878.1:p.Leu198Val, XP_047275384.1:p.Leu243Val, XP_047275383.1:p.Leu243Val, XP_047275385.1:p.Leu243Val, XP_047275387.1:p.Leu243Val, XP_047275388.1:p.Leu243Val, XP_047275386.1:p.Leu198Val, XP_047275389.1:p.Leu198Val, XP_047275390.1:p.Leu198Val

      3.

      rs1483716203 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:138912774 (GRCh38)
        6:139233911 (GRCh37)
        Canonical SPDI:
        NC_000006.12:138912773:T:C
        Gene:
        REPS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000043/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (GnomAD_exomes)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000006.12:g.138912774T>C, NC_000006.11:g.139233911T>C, NG_034016.1:g.80488A>G, NM_031922.5:c.1959A>G, NM_031922.4:c.1959A>G, NM_031922.3:c.1959A>G, NM_001128617.3:c.1881A>G, NM_001128617.2:c.1881A>G, NM_001128617.1:c.1881A>G, NM_001286611.2:c.1962A>G, NM_001286611.1:c.1962A>G, NM_001286612.2:c.1689A>G, NM_001286612.1:c.1689A>G, XM_005267178.6:c.1962A>G, XM_005267178.5:c.1962A>G, XM_005267178.4:c.1962A>G, XM_005267178.3:c.1962A>G, XM_005267178.2:c.1962A>G, XM_005267178.1:c.1962A>G, XM_005267177.5:c.1959A>G, XM_005267177.4:c.1959A>G, XM_005267177.3:c.1959A>G, XM_005267177.2:c.1959A>G, XM_005267177.1:c.1959A>G, XM_005267179.5:c.1878A>G, XM_005267179.4:c.1878A>G, XM_005267179.3:c.1878A>G, XM_005267179.2:c.1878A>G, XM_005267179.1:c.1878A>G, XM_011536202.3:c.1827A>G, XM_011536202.2:c.1827A>G, XM_011536202.1:c.1827A>G, XM_017011387.3:c.1956A>G, XM_017011387.2:c.1956A>G, XM_017011387.1:c.1956A>G, XM_017011388.3:c.1827A>G, XM_017011388.2:c.1827A>G, XM_017011388.1:c.1827A>G, XM_017011389.2:c.1746A>G, XM_017011389.1:c.1746A>G, XM_047419428.1:c.1959A>G, XM_047419427.1:c.1959A>G, XM_047419429.1:c.1956A>G, XM_047419431.1:c.1881A>G, XM_047419432.1:c.1878A>G, XM_047419430.1:c.1824A>G, XM_047419433.1:c.1743A>G, XM_047419434.1:c.1746A>G

        4.

        rs1483097161 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          6:138908778 (GRCh38)
          6:139229915 (GRCh37)
          Canonical SPDI:
          NC_000006.12:138908777:A:G
          Gene:
          REPS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000011/3 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          NC_000006.12:g.138908778A>G, NC_000006.11:g.139229915A>G, NG_034016.1:g.84484T>C, NM_031922.5:c.2103T>C, NM_031922.4:c.2103T>C, NM_031922.3:c.2103T>C, NM_001128617.3:c.2025T>C, NM_001128617.2:c.2025T>C, NM_001128617.1:c.2025T>C, NM_001286611.2:c.2106T>C, NM_001286611.1:c.2106T>C, NM_001286612.2:c.1833T>C, NM_001286612.1:c.1833T>C, XM_005267178.6:c.2106T>C, XM_005267178.5:c.2106T>C, XM_005267178.4:c.2106T>C, XM_005267178.3:c.2106T>C, XM_005267178.2:c.2106T>C, XM_005267178.1:c.2106T>C, XM_005267177.5:c.2103T>C, XM_005267177.4:c.2103T>C, XM_005267177.3:c.2103T>C, XM_005267177.2:c.2103T>C, XM_005267177.1:c.2103T>C, XM_005267179.5:c.2022T>C, XM_005267179.4:c.2022T>C, XM_005267179.3:c.2022T>C, XM_005267179.2:c.2022T>C, XM_005267179.1:c.2022T>C, XM_011536202.3:c.1971T>C, XM_011536202.2:c.1971T>C, XM_011536202.1:c.1971T>C, XM_017011387.3:c.2100T>C, XM_017011387.2:c.2100T>C, XM_017011387.1:c.2100T>C, XM_017011388.3:c.1971T>C, XM_017011388.2:c.1971T>C, XM_017011388.1:c.1971T>C, XM_017011389.2:c.1890T>C, XM_017011389.1:c.1890T>C, XM_047419428.1:c.2103T>C, XM_047419427.1:c.2103T>C, XM_047419429.1:c.2100T>C, XM_047419431.1:c.2025T>C, XM_047419432.1:c.2022T>C, XM_047419430.1:c.1968T>C, XM_047419433.1:c.1887T>C, XM_047419434.1:c.1890T>C

          5.

          rs1481342922 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            6:138987560 (GRCh38)
            6:139308697 (GRCh37)
            Canonical SPDI:
            NC_000006.12:138987559:G:C
            Gene:
            REPS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.138987560G>C, NC_000006.11:g.139308697G>C, NG_034016.1:g.5702C>G, NM_031922.5:c.123C>G, NM_031922.4:c.123C>G, NM_031922.3:c.123C>G, NM_001128617.3:c.123C>G, NM_001128617.2:c.123C>G, NM_001128617.1:c.123C>G, NM_001286611.2:c.123C>G, NM_001286611.1:c.123C>G, NM_001286612.2:c.123C>G, NM_001286612.1:c.123C>G, XM_005267178.6:c.123C>G, XM_005267178.5:c.123C>G, XM_005267178.4:c.123C>G, XM_005267178.3:c.123C>G, XM_005267178.2:c.123C>G, XM_005267178.1:c.123C>G, XM_005267177.5:c.123C>G, XM_005267177.4:c.123C>G, XM_005267177.3:c.123C>G, XM_005267177.2:c.123C>G, XM_005267177.1:c.123C>G, XM_005267179.5:c.123C>G, XM_005267179.4:c.123C>G, XM_005267179.3:c.123C>G, XM_005267179.2:c.123C>G, XM_005267179.1:c.123C>G, XM_017011387.3:c.123C>G, XM_017011387.2:c.123C>G, XM_017011387.1:c.123C>G, XM_047419428.1:c.123C>G, XM_047419427.1:c.123C>G, XM_047419429.1:c.123C>G, XM_047419431.1:c.123C>G, XM_047419432.1:c.123C>G

            6.

            rs1480710323 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              6:138987594 (GRCh38)
              6:139308731 (GRCh37)
              Canonical SPDI:
              NC_000006.12:138987593:A:C
              Gene:
              REPS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000006/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.138987594A>C, NC_000006.11:g.139308731A>C, NG_034016.1:g.5668T>G, NM_031922.5:c.89T>G, NM_031922.4:c.89T>G, NM_031922.3:c.89T>G, NM_001128617.3:c.89T>G, NM_001128617.2:c.89T>G, NM_001128617.1:c.89T>G, NM_001286611.2:c.89T>G, NM_001286611.1:c.89T>G, NM_001286612.2:c.89T>G, NM_001286612.1:c.89T>G, XM_005267178.6:c.89T>G, XM_005267178.5:c.89T>G, XM_005267178.4:c.89T>G, XM_005267178.3:c.89T>G, XM_005267178.2:c.89T>G, XM_005267178.1:c.89T>G, XM_005267177.5:c.89T>G, XM_005267177.4:c.89T>G, XM_005267177.3:c.89T>G, XM_005267177.2:c.89T>G, XM_005267177.1:c.89T>G, XM_005267179.5:c.89T>G, XM_005267179.4:c.89T>G, XM_005267179.3:c.89T>G, XM_005267179.2:c.89T>G, XM_005267179.1:c.89T>G, XM_017011387.3:c.89T>G, XM_017011387.2:c.89T>G, XM_017011387.1:c.89T>G, XM_047419428.1:c.89T>G, XM_047419427.1:c.89T>G, XM_047419429.1:c.89T>G, XM_047419431.1:c.89T>G, XM_047419432.1:c.89T>G, NP_114128.3:p.Val30Gly, NP_001122089.1:p.Val30Gly, NP_001273540.1:p.Val30Gly, NP_001273541.1:p.Val30Gly, XP_005267235.1:p.Val30Gly, XP_005267234.1:p.Val30Gly, XP_005267236.1:p.Val30Gly, XP_016866876.1:p.Val30Gly, XP_047275384.1:p.Val30Gly, XP_047275383.1:p.Val30Gly, XP_047275385.1:p.Val30Gly, XP_047275387.1:p.Val30Gly, XP_047275388.1:p.Val30Gly

              7.

              rs1479950792 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                6:138987605 (GRCh38)
                6:139308742 (GRCh37)
                Canonical SPDI:
                NC_000006.12:138987604:G:C
                Gene:
                REPS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                C=0.000013/2 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.138987605G>C, NC_000006.11:g.139308742G>C, NG_034016.1:g.5657C>G, NM_031922.5:c.78C>G, NM_031922.4:c.78C>G, NM_031922.3:c.78C>G, NM_001128617.3:c.78C>G, NM_001128617.2:c.78C>G, NM_001128617.1:c.78C>G, NM_001286611.2:c.78C>G, NM_001286611.1:c.78C>G, NM_001286612.2:c.78C>G, NM_001286612.1:c.78C>G, XM_005267178.6:c.78C>G, XM_005267178.5:c.78C>G, XM_005267178.4:c.78C>G, XM_005267178.3:c.78C>G, XM_005267178.2:c.78C>G, XM_005267178.1:c.78C>G, XM_005267177.5:c.78C>G, XM_005267177.4:c.78C>G, XM_005267177.3:c.78C>G, XM_005267177.2:c.78C>G, XM_005267177.1:c.78C>G, XM_005267179.5:c.78C>G, XM_005267179.4:c.78C>G, XM_005267179.3:c.78C>G, XM_005267179.2:c.78C>G, XM_005267179.1:c.78C>G, XM_017011387.3:c.78C>G, XM_017011387.2:c.78C>G, XM_017011387.1:c.78C>G, XM_047419428.1:c.78C>G, XM_047419427.1:c.78C>G, XM_047419429.1:c.78C>G, XM_047419431.1:c.78C>G, XM_047419432.1:c.78C>G

                8.

                rs1475944085 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:138908697 (GRCh38)
                  6:139229834 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:138908696:A:G
                  Gene:
                  REPS1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_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=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.138908697A>G, NC_000006.11:g.139229834A>G, NG_034016.1:g.84565T>C, NM_031922.5:c.2184T>C, NM_031922.4:c.2184T>C, NM_031922.3:c.2184T>C, NM_001128617.3:c.2106T>C, NM_001128617.2:c.2106T>C, NM_001128617.1:c.2106T>C, NM_001286611.2:c.2187T>C, NM_001286611.1:c.2187T>C, NM_001286612.2:c.1914T>C, NM_001286612.1:c.1914T>C, XM_005267178.6:c.2187T>C, XM_005267178.5:c.2187T>C, XM_005267178.4:c.2187T>C, XM_005267178.3:c.2187T>C, XM_005267178.2:c.2187T>C, XM_005267178.1:c.2187T>C, XM_005267177.5:c.2184T>C, XM_005267177.4:c.2184T>C, XM_005267177.3:c.2184T>C, XM_005267177.2:c.2184T>C, XM_005267177.1:c.2184T>C, XM_005267179.5:c.2103T>C, XM_005267179.4:c.2103T>C, XM_005267179.3:c.2103T>C, XM_005267179.2:c.2103T>C, XM_005267179.1:c.2103T>C, XM_011536202.3:c.2052T>C, XM_011536202.2:c.2052T>C, XM_011536202.1:c.2052T>C, XM_017011387.3:c.2181T>C, XM_017011387.2:c.2181T>C, XM_017011387.1:c.2181T>C, XM_017011388.3:c.2052T>C, XM_017011388.2:c.2052T>C, XM_017011388.1:c.2052T>C, XM_017011389.2:c.1971T>C, XM_017011389.1:c.1971T>C, XM_047419428.1:c.2184T>C, XM_047419427.1:c.2184T>C, XM_047419429.1:c.2181T>C, XM_047419431.1:c.2106T>C, XM_047419432.1:c.2103T>C, XM_047419430.1:c.2049T>C, XM_047419433.1:c.1968T>C, XM_047419434.1:c.1971T>C

                  9.

                  rs1475126434 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:138941415 (GRCh38)
                    6:139262552 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:138941414:G:A
                    Gene:
                    REPS1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000006.12:g.138941415G>A, NC_000006.11:g.139262552G>A, NG_034016.1:g.51847C>T, NM_031922.5:c.1055C>T, NM_031922.4:c.1055C>T, NM_031922.3:c.1055C>T, NM_001128617.3:c.1055C>T, NM_001128617.2:c.1055C>T, NM_001128617.1:c.1055C>T, NM_001286611.2:c.1055C>T, NM_001286611.1:c.1055C>T, NM_001286612.2:c.1055C>T, NM_001286612.1:c.1055C>T, XM_005267178.6:c.1055C>T, XM_005267178.5:c.1055C>T, XM_005267178.4:c.1055C>T, XM_005267178.3:c.1055C>T, XM_005267178.2:c.1055C>T, XM_005267178.1:c.1055C>T, XM_005267177.5:c.1055C>T, XM_005267177.4:c.1055C>T, XM_005267177.3:c.1055C>T, XM_005267177.2:c.1055C>T, XM_005267177.1:c.1055C>T, XM_005267179.5:c.1055C>T, XM_005267179.4:c.1055C>T, XM_005267179.3:c.1055C>T, XM_005267179.2:c.1055C>T, XM_005267179.1:c.1055C>T, XM_011536202.3:c.920C>T, XM_011536202.2:c.920C>T, XM_011536202.1:c.920C>T, XM_017011387.3:c.1055C>T, XM_017011387.2:c.1055C>T, XM_017011387.1:c.1055C>T, XM_017011388.3:c.920C>T, XM_017011388.2:c.920C>T, XM_017011388.1:c.920C>T, XM_017011389.2:c.920C>T, XM_017011389.1:c.920C>T, XM_047419428.1:c.1055C>T, XM_047419427.1:c.1055C>T, XM_047419429.1:c.1055C>T, XM_047419431.1:c.1055C>T, XM_047419432.1:c.1055C>T, XM_047419430.1:c.920C>T, XM_047419433.1:c.920C>T, XM_047419434.1:c.920C>T, NP_114128.3:p.Ala352Val, NP_001122089.1:p.Ala352Val, NP_001273540.1:p.Ala352Val, NP_001273541.1:p.Ala352Val, XP_005267235.1:p.Ala352Val, XP_005267234.1:p.Ala352Val, XP_005267236.1:p.Ala352Val, XP_011534504.1:p.Ala307Val, XP_016866876.1:p.Ala352Val, XP_016866877.1:p.Ala307Val, XP_016866878.1:p.Ala307Val, XP_047275384.1:p.Ala352Val, XP_047275383.1:p.Ala352Val, XP_047275385.1:p.Ala352Val, XP_047275387.1:p.Ala352Val, XP_047275388.1:p.Ala352Val, XP_047275386.1:p.Ala307Val, XP_047275389.1:p.Ala307Val, XP_047275390.1:p.Ala307Val

                    10.

                    rs1474309772 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:138945287 (GRCh38)
                      6:139266424 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:138945286:C:G
                      Gene:
                      REPS1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000006.12:g.138945287C>G, NC_000006.11:g.139266424C>G, NG_034016.1:g.47975G>C, NM_031922.5:c.560G>C, NM_031922.4:c.560G>C, NM_031922.3:c.560G>C, NM_001128617.3:c.560G>C, NM_001128617.2:c.560G>C, NM_001128617.1:c.560G>C, NM_001286611.2:c.560G>C, NM_001286611.1:c.560G>C, NM_001286612.2:c.560G>C, NM_001286612.1:c.560G>C, XM_005267178.6:c.560G>C, XM_005267178.5:c.560G>C, XM_005267178.4:c.560G>C, XM_005267178.3:c.560G>C, XM_005267178.2:c.560G>C, XM_005267178.1:c.560G>C, XM_005267177.5:c.560G>C, XM_005267177.4:c.560G>C, XM_005267177.3:c.560G>C, XM_005267177.2:c.560G>C, XM_005267177.1:c.560G>C, XM_005267179.5:c.560G>C, XM_005267179.4:c.560G>C, XM_005267179.3:c.560G>C, XM_005267179.2:c.560G>C, XM_005267179.1:c.560G>C, XM_011536202.3:c.425G>C, XM_011536202.2:c.425G>C, XM_011536202.1:c.425G>C, XM_017011387.3:c.560G>C, XM_017011387.2:c.560G>C, XM_017011387.1:c.560G>C, XM_017011388.3:c.425G>C, XM_017011388.2:c.425G>C, XM_017011388.1:c.425G>C, XM_017011389.2:c.425G>C, XM_017011389.1:c.425G>C, XM_047419428.1:c.560G>C, XM_047419427.1:c.560G>C, XM_047419429.1:c.560G>C, XM_047419431.1:c.560G>C, XM_047419432.1:c.560G>C, XM_047419430.1:c.425G>C, XM_047419433.1:c.425G>C, XM_047419434.1:c.425G>C, NP_114128.3:p.Gly187Ala, NP_001122089.1:p.Gly187Ala, NP_001273540.1:p.Gly187Ala, NP_001273541.1:p.Gly187Ala, XP_005267235.1:p.Gly187Ala, XP_005267234.1:p.Gly187Ala, XP_005267236.1:p.Gly187Ala, XP_011534504.1:p.Gly142Ala, XP_016866876.1:p.Gly187Ala, XP_016866877.1:p.Gly142Ala, XP_016866878.1:p.Gly142Ala, XP_047275384.1:p.Gly187Ala, XP_047275383.1:p.Gly187Ala, XP_047275385.1:p.Gly187Ala, XP_047275387.1:p.Gly187Ala, XP_047275388.1:p.Gly187Ala, XP_047275386.1:p.Gly142Ala, XP_047275389.1:p.Gly142Ala, XP_047275390.1:p.Gly142Ala

                      11.

                      rs1473241326 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:138987629 (GRCh38)
                        6:139308766 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:138987628:G:A
                        Gene:
                        REPS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000006.12:g.138987629G>A, NC_000006.11:g.139308766G>A, NG_034016.1:g.5633C>T, NM_031922.5:c.54C>T, NM_031922.4:c.54C>T, NM_031922.3:c.54C>T, NM_001128617.3:c.54C>T, NM_001128617.2:c.54C>T, NM_001128617.1:c.54C>T, NM_001286611.2:c.54C>T, NM_001286611.1:c.54C>T, NM_001286612.2:c.54C>T, NM_001286612.1:c.54C>T, XM_005267178.6:c.54C>T, XM_005267178.5:c.54C>T, XM_005267178.4:c.54C>T, XM_005267178.3:c.54C>T, XM_005267178.2:c.54C>T, XM_005267178.1:c.54C>T, XM_005267177.5:c.54C>T, XM_005267177.4:c.54C>T, XM_005267177.3:c.54C>T, XM_005267177.2:c.54C>T, XM_005267177.1:c.54C>T, XM_005267179.5:c.54C>T, XM_005267179.4:c.54C>T, XM_005267179.3:c.54C>T, XM_005267179.2:c.54C>T, XM_005267179.1:c.54C>T, XM_017011387.3:c.54C>T, XM_017011387.2:c.54C>T, XM_017011387.1:c.54C>T, XM_047419428.1:c.54C>T, XM_047419427.1:c.54C>T, XM_047419429.1:c.54C>T, XM_047419431.1:c.54C>T, XM_047419432.1:c.54C>T

                        12.

                        rs1472903436 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:138908708 (GRCh38)
                          6:139229845 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:138908707:C:T
                          Gene:
                          REPS1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.138908708C>T, NC_000006.11:g.139229845C>T, NG_034016.1:g.84554G>A, NM_031922.5:c.2173G>A, NM_031922.4:c.2173G>A, NM_031922.3:c.2173G>A, NM_001128617.3:c.2095G>A, NM_001128617.2:c.2095G>A, NM_001128617.1:c.2095G>A, NM_001286611.2:c.2176G>A, NM_001286611.1:c.2176G>A, NM_001286612.2:c.1903G>A, NM_001286612.1:c.1903G>A, XM_005267178.6:c.2176G>A, XM_005267178.5:c.2176G>A, XM_005267178.4:c.2176G>A, XM_005267178.3:c.2176G>A, XM_005267178.2:c.2176G>A, XM_005267178.1:c.2176G>A, XM_005267177.5:c.2173G>A, XM_005267177.4:c.2173G>A, XM_005267177.3:c.2173G>A, XM_005267177.2:c.2173G>A, XM_005267177.1:c.2173G>A, XM_005267179.5:c.2092G>A, XM_005267179.4:c.2092G>A, XM_005267179.3:c.2092G>A, XM_005267179.2:c.2092G>A, XM_005267179.1:c.2092G>A, XM_011536202.3:c.2041G>A, XM_011536202.2:c.2041G>A, XM_011536202.1:c.2041G>A, XM_017011387.3:c.2170G>A, XM_017011387.2:c.2170G>A, XM_017011387.1:c.2170G>A, XM_017011388.3:c.2041G>A, XM_017011388.2:c.2041G>A, XM_017011388.1:c.2041G>A, XM_017011389.2:c.1960G>A, XM_017011389.1:c.1960G>A, XM_047419428.1:c.2173G>A, XM_047419427.1:c.2173G>A, XM_047419429.1:c.2170G>A, XM_047419431.1:c.2095G>A, XM_047419432.1:c.2092G>A, XM_047419430.1:c.2038G>A, XM_047419433.1:c.1957G>A, XM_047419434.1:c.1960G>A, NP_114128.3:p.Val725Ile, NP_001122089.1:p.Val699Ile, NP_001273540.1:p.Val726Ile, NP_001273541.1:p.Val635Ile, XP_005267235.1:p.Val726Ile, XP_005267234.1:p.Val725Ile, XP_005267236.1:p.Val698Ile, XP_011534504.1:p.Val681Ile, XP_016866876.1:p.Val724Ile, XP_016866877.1:p.Val681Ile, XP_016866878.1:p.Val654Ile, XP_047275384.1:p.Val725Ile, XP_047275383.1:p.Val725Ile, XP_047275385.1:p.Val724Ile, XP_047275387.1:p.Val699Ile, XP_047275388.1:p.Val698Ile, XP_047275386.1:p.Val680Ile, XP_047275389.1:p.Val653Ile, XP_047275390.1:p.Val654Ile

                          13.

                          rs1470397189 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            6:138921122 (GRCh38)
                            6:139242259 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:138921121:A:T
                            Gene:
                            REPS1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.138921122A>T, NC_000006.11:g.139242259A>T, NG_034016.1:g.72140T>A, NM_031922.5:c.1341T>A, NM_031922.4:c.1341T>A, NM_031922.3:c.1341T>A, NM_001128617.3:c.1260T>A, NM_001128617.2:c.1260T>A, NM_001128617.1:c.1260T>A, NM_001286611.2:c.1341T>A, NM_001286611.1:c.1341T>A, NM_001286612.2:c.1260T>A, NM_001286612.1:c.1260T>A, XM_005267178.6:c.1341T>A, XM_005267178.5:c.1341T>A, XM_005267178.4:c.1341T>A, XM_005267178.3:c.1341T>A, XM_005267178.2:c.1341T>A, XM_005267178.1:c.1341T>A, XM_005267177.5:c.1338T>A, XM_005267177.4:c.1338T>A, XM_005267177.3:c.1338T>A, XM_005267177.2:c.1338T>A, XM_005267177.1:c.1338T>A, XM_005267179.5:c.1260T>A, XM_005267179.4:c.1260T>A, XM_005267179.3:c.1260T>A, XM_005267179.2:c.1260T>A, XM_005267179.1:c.1260T>A, XM_011536202.3:c.1206T>A, XM_011536202.2:c.1206T>A, XM_011536202.1:c.1206T>A, XM_017011387.3:c.1338T>A, XM_017011387.2:c.1338T>A, XM_017011387.1:c.1338T>A, XM_017011388.3:c.1206T>A, XM_017011388.2:c.1206T>A, XM_017011388.1:c.1206T>A, XM_017011389.2:c.1125T>A, XM_017011389.1:c.1125T>A, XM_047419428.1:c.1341T>A, XM_047419427.1:c.1338T>A, XM_047419429.1:c.1338T>A, XM_047419431.1:c.1260T>A, XM_047419432.1:c.1260T>A, XM_047419430.1:c.1206T>A, XM_047419433.1:c.1125T>A, XM_047419434.1:c.1125T>A, NP_114128.3:p.Asp447Glu, NP_001122089.1:p.Asp420Glu, NP_001273540.1:p.Asp447Glu, NP_001273541.1:p.Asp420Glu, XP_005267235.1:p.Asp447Glu, XP_005267234.1:p.Asp446Glu, XP_005267236.1:p.Asp420Glu, XP_011534504.1:p.Asp402Glu, XP_016866876.1:p.Asp446Glu, XP_016866877.1:p.Asp402Glu, XP_016866878.1:p.Asp375Glu, XP_047275384.1:p.Asp447Glu, XP_047275383.1:p.Asp446Glu, XP_047275385.1:p.Asp446Glu, XP_047275387.1:p.Asp420Glu, XP_047275388.1:p.Asp420Glu, XP_047275386.1:p.Asp402Glu, XP_047275389.1:p.Asp375Glu, XP_047275390.1:p.Asp375Glu

                            14.

                            rs1468585721 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              6:138945507 (GRCh38)
                              6:139266644 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:138945506:A:C
                              Gene:
                              REPS1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000006.12:g.138945507A>C, NC_000006.11:g.139266644A>C, NG_034016.1:g.47755T>G, NM_031922.5:c.468T>G, NM_031922.4:c.468T>G, NM_031922.3:c.468T>G, NM_001128617.3:c.468T>G, NM_001128617.2:c.468T>G, NM_001128617.1:c.468T>G, NM_001286611.2:c.468T>G, NM_001286611.1:c.468T>G, NM_001286612.2:c.468T>G, NM_001286612.1:c.468T>G, XM_005267178.6:c.468T>G, XM_005267178.5:c.468T>G, XM_005267178.4:c.468T>G, XM_005267178.3:c.468T>G, XM_005267178.2:c.468T>G, XM_005267178.1:c.468T>G, XM_005267177.5:c.468T>G, XM_005267177.4:c.468T>G, XM_005267177.3:c.468T>G, XM_005267177.2:c.468T>G, XM_005267177.1:c.468T>G, XM_005267179.5:c.468T>G, XM_005267179.4:c.468T>G, XM_005267179.3:c.468T>G, XM_005267179.2:c.468T>G, XM_005267179.1:c.468T>G, XM_011536202.3:c.333T>G, XM_011536202.2:c.333T>G, XM_011536202.1:c.333T>G, XM_017011387.3:c.468T>G, XM_017011387.2:c.468T>G, XM_017011387.1:c.468T>G, XM_017011388.3:c.333T>G, XM_017011388.2:c.333T>G, XM_017011388.1:c.333T>G, XM_017011389.2:c.333T>G, XM_017011389.1:c.333T>G, XM_047419428.1:c.468T>G, XM_047419427.1:c.468T>G, XM_047419429.1:c.468T>G, XM_047419431.1:c.468T>G, XM_047419432.1:c.468T>G, XM_047419430.1:c.333T>G, XM_047419433.1:c.333T>G, XM_047419434.1:c.333T>G, NP_114128.3:p.Asp156Glu, NP_001122089.1:p.Asp156Glu, NP_001273540.1:p.Asp156Glu, NP_001273541.1:p.Asp156Glu, XP_005267235.1:p.Asp156Glu, XP_005267234.1:p.Asp156Glu, XP_005267236.1:p.Asp156Glu, XP_011534504.1:p.Asp111Glu, XP_016866876.1:p.Asp156Glu, XP_016866877.1:p.Asp111Glu, XP_016866878.1:p.Asp111Glu, XP_047275384.1:p.Asp156Glu, XP_047275383.1:p.Asp156Glu, XP_047275385.1:p.Asp156Glu, XP_047275387.1:p.Asp156Glu, XP_047275388.1:p.Asp156Glu, XP_047275386.1:p.Asp111Glu, XP_047275389.1:p.Asp111Glu, XP_047275390.1:p.Asp111Glu

                              15.

                              rs1468264284 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                6:138912769 (GRCh38)
                                6:139233906 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:138912768:A:C
                                Gene:
                                REPS1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.138912769A>C, NC_000006.11:g.139233906A>C, NG_034016.1:g.80493T>G, NM_031922.5:c.1964T>G, NM_031922.4:c.1964T>G, NM_031922.3:c.1964T>G, NM_001128617.3:c.1886T>G, NM_001128617.2:c.1886T>G, NM_001128617.1:c.1886T>G, NM_001286611.2:c.1967T>G, NM_001286611.1:c.1967T>G, NM_001286612.2:c.1694T>G, NM_001286612.1:c.1694T>G, XM_005267178.6:c.1967T>G, XM_005267178.5:c.1967T>G, XM_005267178.4:c.1967T>G, XM_005267178.3:c.1967T>G, XM_005267178.2:c.1967T>G, XM_005267178.1:c.1967T>G, XM_005267177.5:c.1964T>G, XM_005267177.4:c.1964T>G, XM_005267177.3:c.1964T>G, XM_005267177.2:c.1964T>G, XM_005267177.1:c.1964T>G, XM_005267179.5:c.1883T>G, XM_005267179.4:c.1883T>G, XM_005267179.3:c.1883T>G, XM_005267179.2:c.1883T>G, XM_005267179.1:c.1883T>G, XM_011536202.3:c.1832T>G, XM_011536202.2:c.1832T>G, XM_011536202.1:c.1832T>G, XM_017011387.3:c.1961T>G, XM_017011387.2:c.1961T>G, XM_017011387.1:c.1961T>G, XM_017011388.3:c.1832T>G, XM_017011388.2:c.1832T>G, XM_017011388.1:c.1832T>G, XM_017011389.2:c.1751T>G, XM_017011389.1:c.1751T>G, XM_047419428.1:c.1964T>G, XM_047419427.1:c.1964T>G, XM_047419429.1:c.1961T>G, XM_047419431.1:c.1886T>G, XM_047419432.1:c.1883T>G, XM_047419430.1:c.1829T>G, XM_047419433.1:c.1748T>G, XM_047419434.1:c.1751T>G, NP_114128.3:p.Leu655Arg, NP_001122089.1:p.Leu629Arg, NP_001273540.1:p.Leu656Arg, NP_001273541.1:p.Leu565Arg, XP_005267235.1:p.Leu656Arg, XP_005267234.1:p.Leu655Arg, XP_005267236.1:p.Leu628Arg, XP_011534504.1:p.Leu611Arg, XP_016866876.1:p.Leu654Arg, XP_016866877.1:p.Leu611Arg, XP_016866878.1:p.Leu584Arg, XP_047275384.1:p.Leu655Arg, XP_047275383.1:p.Leu655Arg, XP_047275385.1:p.Leu654Arg, XP_047275387.1:p.Leu629Arg, XP_047275388.1:p.Leu628Arg, XP_047275386.1:p.Leu610Arg, XP_047275389.1:p.Leu583Arg, XP_047275390.1:p.Leu584Arg

                                16.

                                rs1466015815 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:138908803 (GRCh38)
                                  6:139229940 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:138908802:G:A
                                  Gene:
                                  REPS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.138908803G>A, NC_000006.11:g.139229940G>A, NG_034016.1:g.84459C>T, NM_031922.5:c.2078C>T, NM_031922.4:c.2078C>T, NM_031922.3:c.2078C>T, NM_001128617.3:c.2000C>T, NM_001128617.2:c.2000C>T, NM_001128617.1:c.2000C>T, NM_001286611.2:c.2081C>T, NM_001286611.1:c.2081C>T, NM_001286612.2:c.1808C>T, NM_001286612.1:c.1808C>T, XM_005267178.6:c.2081C>T, XM_005267178.5:c.2081C>T, XM_005267178.4:c.2081C>T, XM_005267178.3:c.2081C>T, XM_005267178.2:c.2081C>T, XM_005267178.1:c.2081C>T, XM_005267177.5:c.2078C>T, XM_005267177.4:c.2078C>T, XM_005267177.3:c.2078C>T, XM_005267177.2:c.2078C>T, XM_005267177.1:c.2078C>T, XM_005267179.5:c.1997C>T, XM_005267179.4:c.1997C>T, XM_005267179.3:c.1997C>T, XM_005267179.2:c.1997C>T, XM_005267179.1:c.1997C>T, XM_011536202.3:c.1946C>T, XM_011536202.2:c.1946C>T, XM_011536202.1:c.1946C>T, XM_017011387.3:c.2075C>T, XM_017011387.2:c.2075C>T, XM_017011387.1:c.2075C>T, XM_017011388.3:c.1946C>T, XM_017011388.2:c.1946C>T, XM_017011388.1:c.1946C>T, XM_017011389.2:c.1865C>T, XM_017011389.1:c.1865C>T, XM_047419428.1:c.2078C>T, XM_047419427.1:c.2078C>T, XM_047419429.1:c.2075C>T, XM_047419431.1:c.2000C>T, XM_047419432.1:c.1997C>T, XM_047419430.1:c.1943C>T, XM_047419433.1:c.1862C>T, XM_047419434.1:c.1865C>T, NP_114128.3:p.Thr693Ile, NP_001122089.1:p.Thr667Ile, NP_001273540.1:p.Thr694Ile, NP_001273541.1:p.Thr603Ile, XP_005267235.1:p.Thr694Ile, XP_005267234.1:p.Thr693Ile, XP_005267236.1:p.Thr666Ile, XP_011534504.1:p.Thr649Ile, XP_016866876.1:p.Thr692Ile, XP_016866877.1:p.Thr649Ile, XP_016866878.1:p.Thr622Ile, XP_047275384.1:p.Thr693Ile, XP_047275383.1:p.Thr693Ile, XP_047275385.1:p.Thr692Ile, XP_047275387.1:p.Thr667Ile, XP_047275388.1:p.Thr666Ile, XP_047275386.1:p.Thr648Ile, XP_047275389.1:p.Thr621Ile, XP_047275390.1:p.Thr622Ile

                                  17.

                                  rs1462907407 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:138945267 (GRCh38)
                                    6:139266404 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:138945266:G:A
                                    Gene:
                                    REPS1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.138945267G>A, NC_000006.11:g.139266404G>A, NG_034016.1:g.47995C>T, NM_031922.5:c.580C>T, NM_031922.4:c.580C>T, NM_031922.3:c.580C>T, NM_001128617.3:c.580C>T, NM_001128617.2:c.580C>T, NM_001128617.1:c.580C>T, NM_001286611.2:c.580C>T, NM_001286611.1:c.580C>T, NM_001286612.2:c.580C>T, NM_001286612.1:c.580C>T, XM_005267178.6:c.580C>T, XM_005267178.5:c.580C>T, XM_005267178.4:c.580C>T, XM_005267178.3:c.580C>T, XM_005267178.2:c.580C>T, XM_005267178.1:c.580C>T, XM_005267177.5:c.580C>T, XM_005267177.4:c.580C>T, XM_005267177.3:c.580C>T, XM_005267177.2:c.580C>T, XM_005267177.1:c.580C>T, XM_005267179.5:c.580C>T, XM_005267179.4:c.580C>T, XM_005267179.3:c.580C>T, XM_005267179.2:c.580C>T, XM_005267179.1:c.580C>T, XM_011536202.3:c.445C>T, XM_011536202.2:c.445C>T, XM_011536202.1:c.445C>T, XM_017011387.3:c.580C>T, XM_017011387.2:c.580C>T, XM_017011387.1:c.580C>T, XM_017011388.3:c.445C>T, XM_017011388.2:c.445C>T, XM_017011388.1:c.445C>T, XM_017011389.2:c.445C>T, XM_017011389.1:c.445C>T, XM_047419428.1:c.580C>T, XM_047419427.1:c.580C>T, XM_047419429.1:c.580C>T, XM_047419431.1:c.580C>T, XM_047419432.1:c.580C>T, XM_047419430.1:c.445C>T, XM_047419433.1:c.445C>T, XM_047419434.1:c.445C>T, NP_114128.3:p.Leu194Phe, NP_001122089.1:p.Leu194Phe, NP_001273540.1:p.Leu194Phe, NP_001273541.1:p.Leu194Phe, XP_005267235.1:p.Leu194Phe, XP_005267234.1:p.Leu194Phe, XP_005267236.1:p.Leu194Phe, XP_011534504.1:p.Leu149Phe, XP_016866876.1:p.Leu194Phe, XP_016866877.1:p.Leu149Phe, XP_016866878.1:p.Leu149Phe, XP_047275384.1:p.Leu194Phe, XP_047275383.1:p.Leu194Phe, XP_047275385.1:p.Leu194Phe, XP_047275387.1:p.Leu194Phe, XP_047275388.1:p.Leu194Phe, XP_047275386.1:p.Leu149Phe, XP_047275389.1:p.Leu149Phe, XP_047275390.1:p.Leu149Phe

                                    18.

                                    rs1462700547 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:138941438 (GRCh38)
                                      6:139262575 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:138941437:A:G
                                      Gene:
                                      REPS1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.138941438A>G, NC_000006.11:g.139262575A>G, NG_034016.1:g.51824T>C, NM_031922.5:c.1032T>C, NM_031922.4:c.1032T>C, NM_031922.3:c.1032T>C, NM_001128617.3:c.1032T>C, NM_001128617.2:c.1032T>C, NM_001128617.1:c.1032T>C, NM_001286611.2:c.1032T>C, NM_001286611.1:c.1032T>C, NM_001286612.2:c.1032T>C, NM_001286612.1:c.1032T>C, XM_005267178.6:c.1032T>C, XM_005267178.5:c.1032T>C, XM_005267178.4:c.1032T>C, XM_005267178.3:c.1032T>C, XM_005267178.2:c.1032T>C, XM_005267178.1:c.1032T>C, XM_005267177.5:c.1032T>C, XM_005267177.4:c.1032T>C, XM_005267177.3:c.1032T>C, XM_005267177.2:c.1032T>C, XM_005267177.1:c.1032T>C, XM_005267179.5:c.1032T>C, XM_005267179.4:c.1032T>C, XM_005267179.3:c.1032T>C, XM_005267179.2:c.1032T>C, XM_005267179.1:c.1032T>C, XM_011536202.3:c.897T>C, XM_011536202.2:c.897T>C, XM_011536202.1:c.897T>C, XM_017011387.3:c.1032T>C, XM_017011387.2:c.1032T>C, XM_017011387.1:c.1032T>C, XM_017011388.3:c.897T>C, XM_017011388.2:c.897T>C, XM_017011388.1:c.897T>C, XM_017011389.2:c.897T>C, XM_017011389.1:c.897T>C, XM_047419428.1:c.1032T>C, XM_047419427.1:c.1032T>C, XM_047419429.1:c.1032T>C, XM_047419431.1:c.1032T>C, XM_047419432.1:c.1032T>C, XM_047419430.1:c.897T>C, XM_047419433.1:c.897T>C, XM_047419434.1:c.897T>C

                                      19.

                                      rs1461275484 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:138908808 (GRCh38)
                                        6:139229945 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:138908807:G:A
                                        Gene:
                                        REPS1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.138908808G>A, NC_000006.11:g.139229945G>A, NG_034016.1:g.84454C>T, NM_031922.5:c.2073C>T, NM_031922.4:c.2073C>T, NM_031922.3:c.2073C>T, NM_001128617.3:c.1995C>T, NM_001128617.2:c.1995C>T, NM_001128617.1:c.1995C>T, NM_001286611.2:c.2076C>T, NM_001286611.1:c.2076C>T, NM_001286612.2:c.1803C>T, NM_001286612.1:c.1803C>T, XM_005267178.6:c.2076C>T, XM_005267178.5:c.2076C>T, XM_005267178.4:c.2076C>T, XM_005267178.3:c.2076C>T, XM_005267178.2:c.2076C>T, XM_005267178.1:c.2076C>T, XM_005267177.5:c.2073C>T, XM_005267177.4:c.2073C>T, XM_005267177.3:c.2073C>T, XM_005267177.2:c.2073C>T, XM_005267177.1:c.2073C>T, XM_005267179.5:c.1992C>T, XM_005267179.4:c.1992C>T, XM_005267179.3:c.1992C>T, XM_005267179.2:c.1992C>T, XM_005267179.1:c.1992C>T, XM_011536202.3:c.1941C>T, XM_011536202.2:c.1941C>T, XM_011536202.1:c.1941C>T, XM_017011387.3:c.2070C>T, XM_017011387.2:c.2070C>T, XM_017011387.1:c.2070C>T, XM_017011388.3:c.1941C>T, XM_017011388.2:c.1941C>T, XM_017011388.1:c.1941C>T, XM_017011389.2:c.1860C>T, XM_017011389.1:c.1860C>T, XM_047419428.1:c.2073C>T, XM_047419427.1:c.2073C>T, XM_047419429.1:c.2070C>T, XM_047419431.1:c.1995C>T, XM_047419432.1:c.1992C>T, XM_047419430.1:c.1938C>T, XM_047419433.1:c.1857C>T, XM_047419434.1:c.1860C>T

                                        20.

                                        rs1460619651 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          6:138943880 (GRCh38)
                                          6:139265017 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:138943879:G:C
                                          Gene:
                                          REPS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.138943880G>C, NC_000006.11:g.139265017G>C, NG_034016.1:g.49382C>G, NM_031922.5:c.889C>G, NM_031922.4:c.889C>G, NM_031922.3:c.889C>G, NM_001128617.3:c.889C>G, NM_001128617.2:c.889C>G, NM_001128617.1:c.889C>G, NM_001286611.2:c.889C>G, NM_001286611.1:c.889C>G, NM_001286612.2:c.889C>G, NM_001286612.1:c.889C>G, XM_005267178.6:c.889C>G, XM_005267178.5:c.889C>G, XM_005267178.4:c.889C>G, XM_005267178.3:c.889C>G, XM_005267178.2:c.889C>G, XM_005267178.1:c.889C>G, XM_005267177.5:c.889C>G, XM_005267177.4:c.889C>G, XM_005267177.3:c.889C>G, XM_005267177.2:c.889C>G, XM_005267177.1:c.889C>G, XM_005267179.5:c.889C>G, XM_005267179.4:c.889C>G, XM_005267179.3:c.889C>G, XM_005267179.2:c.889C>G, XM_005267179.1:c.889C>G, XM_011536202.3:c.754C>G, XM_011536202.2:c.754C>G, XM_011536202.1:c.754C>G, XM_017011387.3:c.889C>G, XM_017011387.2:c.889C>G, XM_017011387.1:c.889C>G, XM_017011388.3:c.754C>G, XM_017011388.2:c.754C>G, XM_017011388.1:c.754C>G, XM_017011389.2:c.754C>G, XM_017011389.1:c.754C>G, XM_047419428.1:c.889C>G, XM_047419427.1:c.889C>G, XM_047419429.1:c.889C>G, XM_047419431.1:c.889C>G, XM_047419432.1:c.889C>G, XM_047419430.1:c.754C>G, XM_047419433.1:c.754C>G, XM_047419434.1:c.754C>G, NP_114128.3:p.Gln297Glu, NP_001122089.1:p.Gln297Glu, NP_001273540.1:p.Gln297Glu, NP_001273541.1:p.Gln297Glu, XP_005267235.1:p.Gln297Glu, XP_005267234.1:p.Gln297Glu, XP_005267236.1:p.Gln297Glu, XP_011534504.1:p.Gln252Glu, XP_016866876.1:p.Gln297Glu, XP_016866877.1:p.Gln252Glu, XP_016866878.1:p.Gln252Glu, XP_047275384.1:p.Gln297Glu, XP_047275383.1:p.Gln297Glu, XP_047275385.1:p.Gln297Glu, XP_047275387.1:p.Gln297Glu, XP_047275388.1:p.Gln297Glu, XP_047275386.1:p.Gln252Glu, XP_047275389.1:p.Gln252Glu, XP_047275390.1:p.Gln252Glu

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