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Items: 1 to 20 of 152

1.

rs1483577843 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    2:210017551 (GRCh38)
    2:210882275 (GRCh37)
    Canonical SPDI:
    NC_000002.12:210017550:T:C,NC_000002.12:210017550:T:G
    Gene:
    RPE (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.210017551T>C, NC_000002.12:g.210017551T>G, NC_000002.11:g.210882275T>C, NC_000002.11:g.210882275T>G, XM_006712677.5:c.352T>C, XM_006712677.5:c.352T>G, XM_006712677.4:c.352T>C, XM_006712677.4:c.352T>G, XM_006712677.3:c.352T>C, XM_006712677.3:c.352T>G, XM_006712677.2:c.352T>C, XM_006712677.2:c.352T>G, XM_006712677.1:c.352T>C, XM_006712677.1:c.352T>G, NM_199229.3:c.556T>C, NM_199229.3:c.556T>G, NM_199229.2:c.556T>C, NM_199229.2:c.556T>G, NM_006916.3:c.406T>C, NM_006916.3:c.406T>G, NM_006916.2:c.406T>C, NM_006916.2:c.406T>G, XR_001738880.3:n.580T>C, XR_001738880.3:n.580T>G, XR_001738880.2:n.590T>C, XR_001738880.2:n.590T>G, XR_001738880.1:n.653T>C, XR_001738880.1:n.653T>G, NM_001318927.2:c.556T>C, NM_001318927.2:c.556T>G, NM_001318927.1:c.556T>C, NM_001318927.1:c.556T>G, NM_001278283.2:c.406T>C, NM_001278283.2:c.406T>G, NM_001278283.1:c.406T>C, NM_001278283.1:c.406T>G, NM_001278289.2:c.556T>C, NM_001278289.2:c.556T>G, NM_001278289.1:c.556T>C, NM_001278289.1:c.556T>G, NM_001318926.2:c.610T>C, NM_001318926.2:c.610T>G, NM_001318926.1:c.610T>C, NM_001318926.1:c.610T>G, NM_001278282.2:c.406T>C, NM_001278282.2:c.406T>G, NM_001278282.1:c.406T>C, NM_001278282.1:c.406T>G, NM_001318929.2:c.556T>C, NM_001318929.2:c.556T>G, NM_001318929.1:c.556T>C, NM_001318929.1:c.556T>G, NM_001318930.2:c.352T>C, NM_001318930.2:c.352T>G, NM_001318930.1:c.352T>C, NM_001318930.1:c.352T>G, NM_001318931.2:c.352T>C, NM_001318931.2:c.352T>G, NM_001318931.1:c.352T>C, NM_001318931.1:c.352T>G, NM_001318928.2:c.505T>C, NM_001318928.2:c.505T>G, NM_001318928.1:c.505T>C, NM_001318928.1:c.505T>G, NM_001278286.2:c.352T>C, NM_001278286.2:c.352T>G, NM_001278286.1:c.352T>C, NM_001278286.1:c.352T>G, NM_001278288.2:c.352T>C, NM_001278288.2:c.352T>G, NM_001278288.1:c.352T>C, NM_001278288.1:c.352T>G, XM_047445381.1:c.352T>C, XM_047445381.1:c.352T>G, XP_006712740.1:p.Cys118Arg, XP_006712740.1:p.Cys118Gly, NP_954699.1:p.Cys186Arg, NP_954699.1:p.Cys186Gly, NP_008847.1:p.Cys136Arg, NP_008847.1:p.Cys136Gly, NP_001305856.1:p.Cys186Arg, NP_001305856.1:p.Cys186Gly, NP_001265212.1:p.Cys136Arg, NP_001265212.1:p.Cys136Gly, NP_001265218.1:p.Cys186Arg, NP_001265218.1:p.Cys186Gly, NP_001305855.1:p.Cys204Arg, NP_001305855.1:p.Cys204Gly, NP_001265211.1:p.Cys136Arg, NP_001265211.1:p.Cys136Gly, NP_001305858.1:p.Cys186Arg, NP_001305858.1:p.Cys186Gly, NP_001305859.1:p.Cys118Arg, NP_001305859.1:p.Cys118Gly, NP_001305860.1:p.Cys118Arg, NP_001305860.1:p.Cys118Gly, NP_001305857.1:p.Cys169Arg, NP_001305857.1:p.Cys169Gly, NP_001265215.1:p.Cys118Arg, NP_001265215.1:p.Cys118Gly, NP_001265217.1:p.Cys118Arg, NP_001265217.1:p.Cys118Gly, XP_047301337.1:p.Cys118Arg, XP_047301337.1:p.Cys118Gly

    2.

    rs1473151420 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GA [Show Flanks]
      Chromosome:
      2:210016064 (GRCh38)
      2:210880789 (GRCh37)
      Canonical SPDI:
      NC_000002.12:210016064:GAGA:GAGAGA
      Gene:
      RPE (Varview)
      Functional Consequence:
      coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGAGA=0./0 (ALFA)
      GA=0.000008/2 (TOPMED)
      GA=0.000014/2 (GnomAD)
      HGVS:
      NC_000002.12:g.210016065GA[3], NC_000002.11:g.210880789GA[3], XM_006712677.5:c.93_94dup, XM_006712677.4:c.93_94dup, XM_006712677.3:c.93_94dup, XM_006712677.2:c.93_94dup, XM_006712677.1:c.93_94dup, NM_199229.3:c.297_298dup, NM_199229.2:c.297_298dup, NM_006916.3:c.93_94dup, NM_006916.2:c.93_94dup, XR_001738880.3:n.319GA[3], XR_001738880.2:n.329GA[3], XR_001738880.1:n.392GA[3], NM_001318927.2:c.297_298dup, NM_001318927.1:c.297_298dup, NM_001278283.2:c.93_94dup, NM_001278283.1:c.93_94dup, NM_001278289.2:c.297_298dup, NM_001278289.1:c.297_298dup, NM_001318926.2:c.297_298dup, NM_001318926.1:c.297_298dup, NM_001278282.2:c.93_94dup, NM_001278282.1:c.93_94dup, NM_001318929.2:c.297_298dup, NM_001318929.1:c.297_298dup, NM_001318930.2:c.93_94dup, NM_001318930.1:c.93_94dup, NM_001318931.2:c.93_94dup, NM_001318931.1:c.93_94dup, NM_001318928.2:c.297_298dup, NM_001318928.1:c.297_298dup, NM_001278286.2:c.93_94dup, NM_001278286.1:c.93_94dup, NM_001278288.2:c.93_94dup, NM_001278288.1:c.93_94dup, NM_001278285.2:c.297_298dup, NM_001278285.1:c.297_298dup, XM_047445381.1:c.93_94dup, XP_006712740.1:p.Asn32fs, NP_954699.1:p.Asn100fs, NP_008847.1:p.Asn32fs, NP_001305856.1:p.Asn100fs, NP_001265212.1:p.Asn32fs, NP_001265218.1:p.Asn100fs, NP_001305855.1:p.Asn100fs, NP_001265211.1:p.Asn32fs, NP_001305858.1:p.Asn100fs, NP_001305859.1:p.Asn32fs, NP_001305860.1:p.Asn32fs, NP_001305857.1:p.Asn100fs, NP_001265215.1:p.Asn32fs, NP_001265217.1:p.Asn32fs, NP_001265214.1:p.Asn100fs, XP_047301337.1:p.Asn32fs

      3.

      rs1464405077 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:210016617 (GRCh38)
        2:210881341 (GRCh37)
        Canonical SPDI:
        NC_000002.12:210016616:A:G
        Gene:
        RPE (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000028/1 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.210016617A>G, NC_000002.11:g.210881341A>G, XM_006712677.5:c.249A>G, XM_006712677.4:c.249A>G, XM_006712677.3:c.249A>G, XM_006712677.2:c.249A>G, XM_006712677.1:c.249A>G, NM_199229.3:c.453A>G, NM_199229.2:c.453A>G, NM_006916.3:c.303A>G, NM_006916.2:c.303A>G, XR_001738880.3:n.477A>G, XR_001738880.2:n.487A>G, XR_001738880.1:n.550A>G, NM_001318927.2:c.453A>G, NM_001318927.1:c.453A>G, NM_001278283.2:c.303A>G, NM_001278283.1:c.303A>G, NM_001278289.2:c.453A>G, NM_001278289.1:c.453A>G, NM_001318926.2:c.507A>G, NM_001318926.1:c.507A>G, NM_001278282.2:c.303A>G, NM_001278282.1:c.303A>G, NM_001318929.2:c.453A>G, NM_001318929.1:c.453A>G, NM_001318930.2:c.249A>G, NM_001318930.1:c.249A>G, NM_001318931.2:c.249A>G, NM_001318931.1:c.249A>G, NM_001278286.2:c.249A>G, NM_001278286.1:c.249A>G, NM_001278288.2:c.249A>G, NM_001278288.1:c.249A>G, NM_001278285.2:c.453A>G, NM_001278285.1:c.453A>G, XM_047445381.1:c.249A>G

        4.

        rs1461348877 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:210017499 (GRCh38)
          2:210882223 (GRCh37)
          Canonical SPDI:
          NC_000002.12:210017498:A:G
          Gene:
          RPE (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.210017499A>G, NC_000002.11:g.210882223A>G, XM_006712677.5:c.300A>G, XM_006712677.4:c.300A>G, XM_006712677.3:c.300A>G, XM_006712677.2:c.300A>G, XM_006712677.1:c.300A>G, NM_199229.3:c.504A>G, NM_199229.2:c.504A>G, NM_006916.3:c.354A>G, NM_006916.2:c.354A>G, XR_001738880.3:n.528A>G, XR_001738880.2:n.538A>G, XR_001738880.1:n.601A>G, NM_001318927.2:c.504A>G, NM_001318927.1:c.504A>G, NM_001278283.2:c.354A>G, NM_001278283.1:c.354A>G, NM_001278289.2:c.504A>G, NM_001278289.1:c.504A>G, NM_001318926.2:c.558A>G, NM_001318926.1:c.558A>G, NM_001278282.2:c.354A>G, NM_001278282.1:c.354A>G, NM_001318929.2:c.504A>G, NM_001318929.1:c.504A>G, NM_001318930.2:c.300A>G, NM_001318930.1:c.300A>G, NM_001318931.2:c.300A>G, NM_001318931.1:c.300A>G, NM_001318928.2:c.453A>G, NM_001318928.1:c.453A>G, NM_001278286.2:c.300A>G, NM_001278286.1:c.300A>G, NM_001278288.2:c.300A>G, NM_001278288.1:c.300A>G, XM_047445381.1:c.300A>G

          5.

          rs1457885565 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:210019787 (GRCh38)
            2:210884511 (GRCh37)
            Canonical SPDI:
            NC_000002.12:210019786:G:A
            Gene:
            RPE (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000015/4 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            NC_000002.12:g.210019787G>A, NC_000002.11:g.210884511G>A, XM_006712677.5:c.479G>A, XM_006712677.4:c.479G>A, XM_006712677.3:c.479G>A, XM_006712677.2:c.479G>A, XM_006712677.1:c.479G>A, NM_199229.3:c.683G>A, NM_199229.2:c.683G>A, NM_006916.3:c.533G>A, NM_006916.2:c.533G>A, XR_001738880.3:n.707G>A, XR_001738880.2:n.717G>A, XR_001738880.1:n.780G>A, NM_001318927.2:c.*103G>A, NM_001318927.1:c.*103G>A, NM_001278283.2:c.533G>A, NM_001278283.1:c.533G>A, NM_001278289.2:c.*122G>A, NM_001278289.1:c.*122G>A, NM_001318926.2:c.737G>A, NM_001318926.1:c.737G>A, NM_001278282.2:c.533G>A, NM_001278282.1:c.533G>A, NM_001318929.2:c.*103G>A, NM_001318929.1:c.*103G>A, NM_001318930.2:c.479G>A, NM_001318930.1:c.479G>A, NM_001318931.2:c.479G>A, NM_001318931.1:c.479G>A, NM_001318928.2:c.632G>A, NM_001318928.1:c.632G>A, NM_001278286.2:c.479G>A, NM_001278286.1:c.479G>A, NM_001278288.2:c.479G>A, NM_001278288.1:c.479G>A, NM_001278285.2:c.596G>A, NM_001278285.1:c.596G>A, XM_047445381.1:c.479G>A, XP_006712740.1:p.Arg160Gln, NP_954699.1:p.Arg228Gln, NP_008847.1:p.Arg178Gln, NP_001265212.1:p.Arg178Gln, NP_001305855.1:p.Arg246Gln, NP_001265211.1:p.Arg178Gln, NP_001305859.1:p.Arg160Gln, NP_001305860.1:p.Arg160Gln, NP_001305857.1:p.Arg211Gln, NP_001265215.1:p.Arg160Gln, NP_001265217.1:p.Arg160Gln, NP_001265214.1:p.Arg199Gln, XP_047301337.1:p.Arg160Gln

            6.

            rs1456749485 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              2:210019706 (GRCh38)
              2:210884430 (GRCh37)
              Canonical SPDI:
              NC_000002.12:210019705:T:A
              Gene:
              RPE (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.210019706T>A, NC_000002.11:g.210884430T>A, XM_006712677.5:c.398T>A, XM_006712677.4:c.398T>A, XM_006712677.3:c.398T>A, XM_006712677.2:c.398T>A, XM_006712677.1:c.398T>A, NM_199229.3:c.602T>A, NM_199229.2:c.602T>A, NM_006916.3:c.452T>A, NM_006916.2:c.452T>A, XR_001738880.3:n.626T>A, XR_001738880.2:n.636T>A, XR_001738880.1:n.699T>A, NM_001318927.2:c.*22T>A, NM_001318927.1:c.*22T>A, NM_001278283.2:c.452T>A, NM_001278283.1:c.452T>A, NM_001278289.2:c.*41T>A, NM_001278289.1:c.*41T>A, NM_001318926.2:c.656T>A, NM_001318926.1:c.656T>A, NM_001278282.2:c.452T>A, NM_001278282.1:c.452T>A, NM_001318929.2:c.*22T>A, NM_001318929.1:c.*22T>A, NM_001318930.2:c.398T>A, NM_001318930.1:c.398T>A, NM_001318931.2:c.398T>A, NM_001318931.1:c.398T>A, NM_001318928.2:c.551T>A, NM_001318928.1:c.551T>A, NM_001278286.2:c.398T>A, NM_001278286.1:c.398T>A, NM_001278288.2:c.398T>A, NM_001278288.1:c.398T>A, NM_001278285.2:c.515T>A, NM_001278285.1:c.515T>A, XM_047445381.1:c.398T>A, XP_006712740.1:p.Met133Lys, NP_954699.1:p.Met201Lys, NP_008847.1:p.Met151Lys, NP_001265212.1:p.Met151Lys, NP_001305855.1:p.Met219Lys, NP_001265211.1:p.Met151Lys, NP_001305859.1:p.Met133Lys, NP_001305860.1:p.Met133Lys, NP_001305857.1:p.Met184Lys, NP_001265215.1:p.Met133Lys, NP_001265217.1:p.Met133Lys, NP_001265214.1:p.Met172Lys, XP_047301337.1:p.Met133Lys

              7.

              rs1451368877 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                2:210016050 (GRCh38)
                2:210880774 (GRCh37)
                Canonical SPDI:
                NC_000002.12:210016049:C:G
                Gene:
                RPE (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.210016050C>G, NC_000002.11:g.210880774C>G, XM_006712677.5:c.76C>G, XM_006712677.4:c.76C>G, XM_006712677.3:c.76C>G, XM_006712677.2:c.76C>G, XM_006712677.1:c.76C>G, NM_199229.3:c.280C>G, NM_199229.2:c.280C>G, NM_006916.3:c.76C>G, NM_006916.2:c.76C>G, XR_001738880.3:n.304C>G, XR_001738880.2:n.314C>G, XR_001738880.1:n.377C>G, NM_001318927.2:c.280C>G, NM_001318927.1:c.280C>G, NM_001278283.2:c.76C>G, NM_001278283.1:c.76C>G, NM_001278289.2:c.280C>G, NM_001278289.1:c.280C>G, NM_001318926.2:c.280C>G, NM_001318926.1:c.280C>G, NM_001278282.2:c.76C>G, NM_001278282.1:c.76C>G, NM_001318929.2:c.280C>G, NM_001318929.1:c.280C>G, NM_001318930.2:c.76C>G, NM_001318930.1:c.76C>G, NM_001318931.2:c.76C>G, NM_001318931.1:c.76C>G, NM_001318928.2:c.280C>G, NM_001318928.1:c.280C>G, NM_001278286.2:c.76C>G, NM_001278286.1:c.76C>G, NM_001278288.2:c.76C>G, NM_001278288.1:c.76C>G, NM_001278285.2:c.280C>G, NM_001278285.1:c.280C>G, XM_047445381.1:c.76C>G, XP_006712740.1:p.His26Asp, NP_954699.1:p.His94Asp, NP_008847.1:p.His26Asp, NP_001305856.1:p.His94Asp, NP_001265212.1:p.His26Asp, NP_001265218.1:p.His94Asp, NP_001305855.1:p.His94Asp, NP_001265211.1:p.His26Asp, NP_001305858.1:p.His94Asp, NP_001305859.1:p.His26Asp, NP_001305860.1:p.His26Asp, NP_001305857.1:p.His94Asp, NP_001265215.1:p.His26Asp, NP_001265217.1:p.His26Asp, NP_001265214.1:p.His94Asp, XP_047301337.1:p.His26Asp

                8.

                rs1450969981 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  2:210019780 (GRCh38)
                  2:210884504 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:210019779:C:G,NC_000002.12:210019779:C:T
                  Gene:
                  RPE (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000002.12:g.210019780C>G, NC_000002.12:g.210019780C>T, NC_000002.11:g.210884504C>G, NC_000002.11:g.210884504C>T, XM_006712677.5:c.472C>G, XM_006712677.5:c.472C>T, XM_006712677.4:c.472C>G, XM_006712677.4:c.472C>T, XM_006712677.3:c.472C>G, XM_006712677.3:c.472C>T, XM_006712677.2:c.472C>G, XM_006712677.2:c.472C>T, XM_006712677.1:c.472C>G, XM_006712677.1:c.472C>T, NM_199229.3:c.676C>G, NM_199229.3:c.676C>T, NM_199229.2:c.676C>G, NM_199229.2:c.676C>T, NM_006916.3:c.526C>G, NM_006916.3:c.526C>T, NM_006916.2:c.526C>G, NM_006916.2:c.526C>T, XR_001738880.3:n.700C>G, XR_001738880.3:n.700C>T, XR_001738880.2:n.710C>G, XR_001738880.2:n.710C>T, XR_001738880.1:n.773C>G, XR_001738880.1:n.773C>T, NM_001318927.2:c.*96C>G, NM_001318927.2:c.*96C>T, NM_001318927.1:c.*96C>G, NM_001318927.1:c.*96C>T, NM_001278283.2:c.526C>G, NM_001278283.2:c.526C>T, NM_001278283.1:c.526C>G, NM_001278283.1:c.526C>T, NM_001278289.2:c.*115C>G, NM_001278289.2:c.*115C>T, NM_001278289.1:c.*115C>G, NM_001278289.1:c.*115C>T, NM_001318926.2:c.730C>G, NM_001318926.2:c.730C>T, NM_001318926.1:c.730C>G, NM_001318926.1:c.730C>T, NM_001278282.2:c.526C>G, NM_001278282.2:c.526C>T, NM_001278282.1:c.526C>G, NM_001278282.1:c.526C>T, NM_001318929.2:c.*96C>G, NM_001318929.2:c.*96C>T, NM_001318929.1:c.*96C>G, NM_001318929.1:c.*96C>T, NM_001318930.2:c.472C>G, NM_001318930.2:c.472C>T, NM_001318930.1:c.472C>G, NM_001318930.1:c.472C>T, NM_001318931.2:c.472C>G, NM_001318931.2:c.472C>T, NM_001318931.1:c.472C>G, NM_001318931.1:c.472C>T, NM_001318928.2:c.625C>G, NM_001318928.2:c.625C>T, NM_001318928.1:c.625C>G, NM_001318928.1:c.625C>T, NM_001278286.2:c.472C>G, NM_001278286.2:c.472C>T, NM_001278286.1:c.472C>G, NM_001278286.1:c.472C>T, NM_001278288.2:c.472C>G, NM_001278288.2:c.472C>T, NM_001278288.1:c.472C>G, NM_001278288.1:c.472C>T, NM_001278285.2:c.589C>G, NM_001278285.2:c.589C>T, NM_001278285.1:c.589C>G, NM_001278285.1:c.589C>T, XM_047445381.1:c.472C>G, XM_047445381.1:c.472C>T, XP_006712740.1:p.Leu158Val, XP_006712740.1:p.Leu158Phe, NP_954699.1:p.Leu226Val, NP_954699.1:p.Leu226Phe, NP_008847.1:p.Leu176Val, NP_008847.1:p.Leu176Phe, NP_001265212.1:p.Leu176Val, NP_001265212.1:p.Leu176Phe, NP_001305855.1:p.Leu244Val, NP_001305855.1:p.Leu244Phe, NP_001265211.1:p.Leu176Val, NP_001265211.1:p.Leu176Phe, NP_001305859.1:p.Leu158Val, NP_001305859.1:p.Leu158Phe, NP_001305860.1:p.Leu158Val, NP_001305860.1:p.Leu158Phe, NP_001305857.1:p.Leu209Val, NP_001305857.1:p.Leu209Phe, NP_001265215.1:p.Leu158Val, NP_001265215.1:p.Leu158Phe, NP_001265217.1:p.Leu158Val, NP_001265217.1:p.Leu158Phe, NP_001265214.1:p.Leu197Val, NP_001265214.1:p.Leu197Phe, XP_047301337.1:p.Leu158Val, XP_047301337.1:p.Leu158Phe

                  9.

                  rs1450891874 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:210019669 (GRCh38)
                    2:210884393 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:210019668:G:A
                    Gene:
                    RPE (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.210019669G>A, NC_000002.11:g.210884393G>A, XM_006712677.5:c.361G>A, XM_006712677.4:c.361G>A, XM_006712677.3:c.361G>A, XM_006712677.2:c.361G>A, XM_006712677.1:c.361G>A, NM_199229.3:c.565G>A, NM_199229.2:c.565G>A, NM_006916.3:c.415G>A, NM_006916.2:c.415G>A, XR_001738880.3:n.589G>A, XR_001738880.2:n.599G>A, XR_001738880.1:n.662G>A, NM_001318927.2:c.663G>A, NM_001318927.1:c.663G>A, NM_001278283.2:c.415G>A, NM_001278283.1:c.415G>A, NM_001278289.2:c.*4G>A, NM_001278289.1:c.*4G>A, NM_001318926.2:c.619G>A, NM_001318926.1:c.619G>A, NM_001278282.2:c.415G>A, NM_001278282.1:c.415G>A, NM_001318930.2:c.361G>A, NM_001318930.1:c.361G>A, NM_001318931.2:c.361G>A, NM_001318931.1:c.361G>A, NM_001318928.2:c.514G>A, NM_001318928.1:c.514G>A, NM_001278286.2:c.361G>A, NM_001278286.1:c.361G>A, NM_001278288.2:c.361G>A, NM_001278288.1:c.361G>A, NM_001278285.2:c.478G>A, NM_001278285.1:c.478G>A, XM_047445381.1:c.361G>A, XP_006712740.1:p.Ala121Thr, NP_954699.1:p.Ala189Thr, NP_008847.1:p.Ala139Thr, NP_001265212.1:p.Ala139Thr, NP_001305855.1:p.Ala207Thr, NP_001265211.1:p.Ala139Thr, NP_001305859.1:p.Ala121Thr, NP_001305860.1:p.Ala121Thr, NP_001305857.1:p.Ala172Thr, NP_001265215.1:p.Ala121Thr, NP_001265217.1:p.Ala121Thr, NP_001265214.1:p.Ala160Thr, XP_047301337.1:p.Ala121Thr

                    10.

                    rs1447486562 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:210016602 (GRCh38)
                      2:210881326 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:210016601:G:T
                      Gene:
                      RPE (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.210016602G>T, NC_000002.11:g.210881326G>T, XM_006712677.5:c.234G>T, XM_006712677.4:c.234G>T, XM_006712677.3:c.234G>T, XM_006712677.2:c.234G>T, XM_006712677.1:c.234G>T, NM_199229.3:c.438G>T, NM_199229.2:c.438G>T, NM_006916.3:c.288G>T, NM_006916.2:c.288G>T, XR_001738880.3:n.462G>T, XR_001738880.2:n.472G>T, XR_001738880.1:n.535G>T, NM_001318927.2:c.438G>T, NM_001318927.1:c.438G>T, NM_001278283.2:c.288G>T, NM_001278283.1:c.288G>T, NM_001278289.2:c.438G>T, NM_001278289.1:c.438G>T, NM_001318926.2:c.492G>T, NM_001318926.1:c.492G>T, NM_001278282.2:c.288G>T, NM_001278282.1:c.288G>T, NM_001318929.2:c.438G>T, NM_001318929.1:c.438G>T, NM_001318930.2:c.234G>T, NM_001318930.1:c.234G>T, NM_001318931.2:c.234G>T, NM_001318931.1:c.234G>T, NM_001278286.2:c.234G>T, NM_001278286.1:c.234G>T, NM_001278288.2:c.234G>T, NM_001278288.1:c.234G>T, NM_001278285.2:c.438G>T, NM_001278285.1:c.438G>T, XM_047445381.1:c.234G>T

                      11.

                      rs1439822800 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        2:210016231 (GRCh38)
                        2:210880955 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:210016230:C:A,NC_000002.12:210016230:C:T
                        Gene:
                        RPE (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.210016231C>A, NC_000002.12:g.210016231C>T, NC_000002.11:g.210880955C>A, NC_000002.11:g.210880955C>T, NM_006916.3:c.166C>A, NM_006916.3:c.166C>T, NM_006916.2:c.166C>A, NM_006916.2:c.166C>T, NM_001278283.2:c.166C>A, NM_001278283.2:c.166C>T, NM_001278283.1:c.166C>A, NM_001278283.1:c.166C>T, NM_001318926.2:c.370C>A, NM_001318926.2:c.370C>T, NM_001318926.1:c.370C>A, NM_001318926.1:c.370C>T, NM_001278282.2:c.166C>A, NM_001278282.2:c.166C>T, NM_001278282.1:c.166C>A, NM_001278282.1:c.166C>T, NM_001318928.2:c.370C>A, NM_001318928.2:c.370C>T, NM_001318928.1:c.370C>A, NM_001318928.1:c.370C>T, NP_008847.1:p.Gln56Lys, NP_008847.1:p.Gln56Ter, NP_001265212.1:p.Gln56Lys, NP_001265212.1:p.Gln56Ter, NP_001305855.1:p.Gln124Lys, NP_001305855.1:p.Gln124Ter, NP_001265211.1:p.Gln56Lys, NP_001265211.1:p.Gln56Ter, NP_001305857.1:p.Gln124Lys, NP_001305857.1:p.Gln124Ter

                        12.

                        rs1439169162 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          2:210017543 (GRCh38)
                          2:210882267 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:210017542:T:
                          Gene:
                          RPE (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.210017543del, NC_000002.11:g.210882267del, XM_006712677.5:c.344del, XM_006712677.4:c.344del, XM_006712677.3:c.344del, XM_006712677.2:c.344del, XM_006712677.1:c.344del, NM_199229.3:c.548del, NM_199229.2:c.548del, NM_006916.3:c.398del, NM_006916.2:c.398del, XR_001738880.3:n.572del, XR_001738880.2:n.582del, XR_001738880.1:n.645del, NM_001318927.2:c.548del, NM_001318927.1:c.548del, NM_001278283.2:c.398del, NM_001278283.1:c.398del, NM_001278289.2:c.548del, NM_001278289.1:c.548del, NM_001318926.2:c.602del, NM_001318926.1:c.602del, NM_001278282.2:c.398del, NM_001278282.1:c.398del, NM_001318929.2:c.548del, NM_001318929.1:c.548del, NM_001318930.2:c.344del, NM_001318930.1:c.344del, NM_001318931.2:c.344del, NM_001318931.1:c.344del, NM_001318928.2:c.497del, NM_001318928.1:c.497del, NM_001278286.2:c.344del, NM_001278286.1:c.344del, NM_001278288.2:c.344del, NM_001278288.1:c.344del, XM_047445381.1:c.344del, XP_006712740.1:p.Val115fs, NP_954699.1:p.Val183fs, NP_008847.1:p.Val133fs, NP_001305856.1:p.Val183fs, NP_001265212.1:p.Val133fs, NP_001265218.1:p.Val183fs, NP_001305855.1:p.Val201fs, NP_001265211.1:p.Val133fs, NP_001305858.1:p.Val183fs, NP_001305859.1:p.Val115fs, NP_001305860.1:p.Val115fs, NP_001305857.1:p.Val166fs, NP_001265215.1:p.Val115fs, NP_001265217.1:p.Val115fs, XP_047301337.1:p.Val115fs

                          13.

                          rs1436000338 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:210019729 (GRCh38)
                            2:210884453 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:210019728:G:A
                            Gene:
                            RPE (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.210019729G>A, NC_000002.11:g.210884453G>A, XM_006712677.5:c.421G>A, XM_006712677.4:c.421G>A, XM_006712677.3:c.421G>A, XM_006712677.2:c.421G>A, XM_006712677.1:c.421G>A, NM_199229.3:c.625G>A, NM_199229.2:c.625G>A, NM_006916.3:c.475G>A, NM_006916.2:c.475G>A, XR_001738880.3:n.649G>A, XR_001738880.2:n.659G>A, XR_001738880.1:n.722G>A, NM_001318927.2:c.*45G>A, NM_001318927.1:c.*45G>A, NM_001278283.2:c.475G>A, NM_001278283.1:c.475G>A, NM_001278289.2:c.*64G>A, NM_001278289.1:c.*64G>A, NM_001318926.2:c.679G>A, NM_001318926.1:c.679G>A, NM_001278282.2:c.475G>A, NM_001278282.1:c.475G>A, NM_001318929.2:c.*45G>A, NM_001318929.1:c.*45G>A, NM_001318930.2:c.421G>A, NM_001318930.1:c.421G>A, NM_001318931.2:c.421G>A, NM_001318931.1:c.421G>A, NM_001318928.2:c.574G>A, NM_001318928.1:c.574G>A, NM_001278286.2:c.421G>A, NM_001278286.1:c.421G>A, NM_001278288.2:c.421G>A, NM_001278288.1:c.421G>A, NM_001278285.2:c.538G>A, NM_001278285.1:c.538G>A, XM_047445381.1:c.421G>A, XP_006712740.1:p.Val141Met, NP_954699.1:p.Val209Met, NP_008847.1:p.Val159Met, NP_001265212.1:p.Val159Met, NP_001305855.1:p.Val227Met, NP_001265211.1:p.Val159Met, NP_001305859.1:p.Val141Met, NP_001305860.1:p.Val141Met, NP_001305857.1:p.Val192Met, NP_001265215.1:p.Val141Met, NP_001265217.1:p.Val141Met, NP_001265214.1:p.Val180Met, XP_047301337.1:p.Val141Met

                            14.

                            rs1435979190 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              2:210016519 (GRCh38)
                              2:210881243 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:210016518:A:C
                              Gene:
                              RPE (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.210016519A>C, NC_000002.11:g.210881243A>C, XM_006712677.5:c.151A>C, XM_006712677.4:c.151A>C, XM_006712677.3:c.151A>C, XM_006712677.2:c.151A>C, XM_006712677.1:c.151A>C, NM_199229.3:c.355A>C, NM_199229.2:c.355A>C, NM_006916.3:c.205A>C, NM_006916.2:c.205A>C, XR_001738880.3:n.379A>C, XR_001738880.2:n.389A>C, XR_001738880.1:n.452A>C, NM_001318927.2:c.355A>C, NM_001318927.1:c.355A>C, NM_001278283.2:c.205A>C, NM_001278283.1:c.205A>C, NM_001278289.2:c.355A>C, NM_001278289.1:c.355A>C, NM_001318926.2:c.409A>C, NM_001318926.1:c.409A>C, NM_001278282.2:c.205A>C, NM_001278282.1:c.205A>C, NM_001318929.2:c.355A>C, NM_001318929.1:c.355A>C, NM_001318930.2:c.151A>C, NM_001318930.1:c.151A>C, NM_001318931.2:c.151A>C, NM_001318931.1:c.151A>C, NM_001318928.2:c.409A>C, NM_001318928.1:c.409A>C, NM_001278286.2:c.151A>C, NM_001278286.1:c.151A>C, NM_001278288.2:c.151A>C, NM_001278288.1:c.151A>C, NM_001278285.2:c.355A>C, NM_001278285.1:c.355A>C, XM_047445381.1:c.151A>C, XP_006712740.1:p.Ile51Leu, NP_954699.1:p.Ile119Leu, NP_008847.1:p.Ile69Leu, NP_001305856.1:p.Ile119Leu, NP_001265212.1:p.Ile69Leu, NP_001265218.1:p.Ile119Leu, NP_001305855.1:p.Ile137Leu, NP_001265211.1:p.Ile69Leu, NP_001305858.1:p.Ile119Leu, NP_001305859.1:p.Ile51Leu, NP_001305860.1:p.Ile51Leu, NP_001305857.1:p.Ile137Leu, NP_001265215.1:p.Ile51Leu, NP_001265217.1:p.Ile51Leu, NP_001265214.1:p.Ile119Leu, XP_047301337.1:p.Ile51Leu

                              15.

                              rs1432537146 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:210016058 (GRCh38)
                                2:210880782 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:210016057:G:C
                                Gene:
                                RPE (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.210016058G>C, NC_000002.11:g.210880782G>C, XM_006712677.5:c.84G>C, XM_006712677.4:c.84G>C, XM_006712677.3:c.84G>C, XM_006712677.2:c.84G>C, XM_006712677.1:c.84G>C, NM_199229.3:c.288G>C, NM_199229.2:c.288G>C, NM_006916.3:c.84G>C, NM_006916.2:c.84G>C, XR_001738880.3:n.312G>C, XR_001738880.2:n.322G>C, XR_001738880.1:n.385G>C, NM_001318927.2:c.288G>C, NM_001318927.1:c.288G>C, NM_001278283.2:c.84G>C, NM_001278283.1:c.84G>C, NM_001278289.2:c.288G>C, NM_001278289.1:c.288G>C, NM_001318926.2:c.288G>C, NM_001318926.1:c.288G>C, NM_001278282.2:c.84G>C, NM_001278282.1:c.84G>C, NM_001318929.2:c.288G>C, NM_001318929.1:c.288G>C, NM_001318930.2:c.84G>C, NM_001318930.1:c.84G>C, NM_001318931.2:c.84G>C, NM_001318931.1:c.84G>C, NM_001318928.2:c.288G>C, NM_001318928.1:c.288G>C, NM_001278286.2:c.84G>C, NM_001278286.1:c.84G>C, NM_001278288.2:c.84G>C, NM_001278288.1:c.84G>C, NM_001278285.2:c.288G>C, NM_001278285.1:c.288G>C, XM_047445381.1:c.84G>C, XP_006712740.1:p.Glu28Asp, NP_954699.1:p.Glu96Asp, NP_008847.1:p.Glu28Asp, NP_001305856.1:p.Glu96Asp, NP_001265212.1:p.Glu28Asp, NP_001265218.1:p.Glu96Asp, NP_001305855.1:p.Glu96Asp, NP_001265211.1:p.Glu28Asp, NP_001305858.1:p.Glu96Asp, NP_001305859.1:p.Glu28Asp, NP_001305860.1:p.Glu28Asp, NP_001305857.1:p.Glu96Asp, NP_001265215.1:p.Glu28Asp, NP_001265217.1:p.Glu28Asp, NP_001265214.1:p.Glu96Asp, XP_047301337.1:p.Glu28Asp

                                16.

                                rs1431819921 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:210017491 (GRCh38)
                                  2:210882215 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:210017490:C:A
                                  Gene:
                                  RPE (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.210017491C>A, NC_000002.11:g.210882215C>A, XM_006712677.5:c.292C>A, XM_006712677.4:c.292C>A, XM_006712677.3:c.292C>A, XM_006712677.2:c.292C>A, XM_006712677.1:c.292C>A, NM_199229.3:c.496C>A, NM_199229.2:c.496C>A, NM_006916.3:c.346C>A, NM_006916.2:c.346C>A, XR_001738880.3:n.520C>A, XR_001738880.2:n.530C>A, XR_001738880.1:n.593C>A, NM_001318927.2:c.496C>A, NM_001318927.1:c.496C>A, NM_001278283.2:c.346C>A, NM_001278283.1:c.346C>A, NM_001278289.2:c.496C>A, NM_001278289.1:c.496C>A, NM_001318926.2:c.550C>A, NM_001318926.1:c.550C>A, NM_001278282.2:c.346C>A, NM_001278282.1:c.346C>A, NM_001318929.2:c.496C>A, NM_001318929.1:c.496C>A, NM_001318930.2:c.292C>A, NM_001318930.1:c.292C>A, NM_001318931.2:c.292C>A, NM_001318931.1:c.292C>A, NM_001318928.2:c.445C>A, NM_001318928.1:c.445C>A, NM_001278286.2:c.292C>A, NM_001278286.1:c.292C>A, NM_001278288.2:c.292C>A, NM_001278288.1:c.292C>A, XM_047445381.1:c.292C>A, XP_006712740.1:p.Gln98Lys, NP_954699.1:p.Gln166Lys, NP_008847.1:p.Gln116Lys, NP_001305856.1:p.Gln166Lys, NP_001265212.1:p.Gln116Lys, NP_001265218.1:p.Gln166Lys, NP_001305855.1:p.Gln184Lys, NP_001265211.1:p.Gln116Lys, NP_001305858.1:p.Gln166Lys, NP_001305859.1:p.Gln98Lys, NP_001305860.1:p.Gln98Lys, NP_001305857.1:p.Gln149Lys, NP_001265215.1:p.Gln98Lys, NP_001265217.1:p.Gln98Lys, XP_047301337.1:p.Gln98Lys

                                  17.

                                  rs1428490836 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:210016036 (GRCh38)
                                    2:210880760 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:210016035:A:G
                                    Gene:
                                    RPE (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.210016036A>G, NC_000002.11:g.210880760A>G, XM_006712677.5:c.62A>G, XM_006712677.4:c.62A>G, XM_006712677.3:c.62A>G, XM_006712677.2:c.62A>G, XM_006712677.1:c.62A>G, NM_199229.3:c.266A>G, NM_199229.2:c.266A>G, NM_006916.3:c.62A>G, NM_006916.2:c.62A>G, XR_001738880.3:n.290A>G, XR_001738880.2:n.300A>G, XR_001738880.1:n.363A>G, NM_001318927.2:c.266A>G, NM_001318927.1:c.266A>G, NM_001278283.2:c.62A>G, NM_001278283.1:c.62A>G, NM_001278289.2:c.266A>G, NM_001278289.1:c.266A>G, NM_001318926.2:c.266A>G, NM_001318926.1:c.266A>G, NM_001278282.2:c.62A>G, NM_001278282.1:c.62A>G, NM_001318929.2:c.266A>G, NM_001318929.1:c.266A>G, NM_001318930.2:c.62A>G, NM_001318930.1:c.62A>G, NM_001318931.2:c.62A>G, NM_001318931.1:c.62A>G, NM_001318928.2:c.266A>G, NM_001318928.1:c.266A>G, NM_001278286.2:c.62A>G, NM_001278286.1:c.62A>G, NM_001278288.2:c.62A>G, NM_001278288.1:c.62A>G, NM_001278285.2:c.266A>G, NM_001278285.1:c.266A>G, XM_047445381.1:c.62A>G, XP_006712740.1:p.Asn21Ser, NP_954699.1:p.Asn89Ser, NP_008847.1:p.Asn21Ser, NP_001305856.1:p.Asn89Ser, NP_001265212.1:p.Asn21Ser, NP_001265218.1:p.Asn89Ser, NP_001305855.1:p.Asn89Ser, NP_001265211.1:p.Asn21Ser, NP_001305858.1:p.Asn89Ser, NP_001305859.1:p.Asn21Ser, NP_001305860.1:p.Asn21Ser, NP_001305857.1:p.Asn89Ser, NP_001265215.1:p.Asn21Ser, NP_001265217.1:p.Asn21Ser, NP_001265214.1:p.Asn89Ser, XP_047301337.1:p.Asn21Ser

                                    18.

                                    rs1425466183 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:210017518 (GRCh38)
                                      2:210882242 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:210017517:G:A
                                      Gene:
                                      RPE (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000002.12:g.210017518G>A, NC_000002.11:g.210882242G>A, XM_006712677.5:c.319G>A, XM_006712677.4:c.319G>A, XM_006712677.3:c.319G>A, XM_006712677.2:c.319G>A, XM_006712677.1:c.319G>A, NM_199229.3:c.523G>A, NM_199229.2:c.523G>A, NM_006916.3:c.373G>A, NM_006916.2:c.373G>A, XR_001738880.3:n.547G>A, XR_001738880.2:n.557G>A, XR_001738880.1:n.620G>A, NM_001318927.2:c.523G>A, NM_001318927.1:c.523G>A, NM_001278283.2:c.373G>A, NM_001278283.1:c.373G>A, NM_001278289.2:c.523G>A, NM_001278289.1:c.523G>A, NM_001318926.2:c.577G>A, NM_001318926.1:c.577G>A, NM_001278282.2:c.373G>A, NM_001278282.1:c.373G>A, NM_001318929.2:c.523G>A, NM_001318929.1:c.523G>A, NM_001318930.2:c.319G>A, NM_001318930.1:c.319G>A, NM_001318931.2:c.319G>A, NM_001318931.1:c.319G>A, NM_001318928.2:c.472G>A, NM_001318928.1:c.472G>A, NM_001278286.2:c.319G>A, NM_001278286.1:c.319G>A, NM_001278288.2:c.319G>A, NM_001278288.1:c.319G>A, XM_047445381.1:c.319G>A, XP_006712740.1:p.Asp107Asn, NP_954699.1:p.Asp175Asn, NP_008847.1:p.Asp125Asn, NP_001305856.1:p.Asp175Asn, NP_001265212.1:p.Asp125Asn, NP_001265218.1:p.Asp175Asn, NP_001305855.1:p.Asp193Asn, NP_001265211.1:p.Asp125Asn, NP_001305858.1:p.Asp175Asn, NP_001305859.1:p.Asp107Asn, NP_001305860.1:p.Asp107Asn, NP_001305857.1:p.Asp158Asn, NP_001265215.1:p.Asp107Asn, NP_001265217.1:p.Asp107Asn, XP_047301337.1:p.Asp107Asn

                                      19.

                                      rs1422413500 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:210019764 (GRCh38)
                                        2:210884488 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:210019763:T:C
                                        Gene:
                                        RPE (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.210019764T>C, NC_000002.11:g.210884488T>C, XM_006712677.5:c.456T>C, XM_006712677.4:c.456T>C, XM_006712677.3:c.456T>C, XM_006712677.2:c.456T>C, XM_006712677.1:c.456T>C, NM_199229.3:c.660T>C, NM_199229.2:c.660T>C, NM_006916.3:c.510T>C, NM_006916.2:c.510T>C, XR_001738880.3:n.684T>C, XR_001738880.2:n.694T>C, XR_001738880.1:n.757T>C, NM_001318927.2:c.*80T>C, NM_001318927.1:c.*80T>C, NM_001278283.2:c.510T>C, NM_001278283.1:c.510T>C, NM_001278289.2:c.*99T>C, NM_001278289.1:c.*99T>C, NM_001318926.2:c.714T>C, NM_001318926.1:c.714T>C, NM_001278282.2:c.510T>C, NM_001278282.1:c.510T>C, NM_001318929.2:c.*80T>C, NM_001318929.1:c.*80T>C, NM_001318930.2:c.456T>C, NM_001318930.1:c.456T>C, NM_001318931.2:c.456T>C, NM_001318931.1:c.456T>C, NM_001318928.2:c.609T>C, NM_001318928.1:c.609T>C, NM_001278286.2:c.456T>C, NM_001278286.1:c.456T>C, NM_001278288.2:c.456T>C, NM_001278288.1:c.456T>C, NM_001278285.2:c.573T>C, NM_001278285.1:c.573T>C, XM_047445381.1:c.456T>C

                                        20.

                                        rs1405311137 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          2:210019693 (GRCh38)
                                          2:210884417 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:210019692:G:T
                                          Gene:
                                          RPE (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.210019693G>T, NC_000002.11:g.210884417G>T, XM_006712677.5:c.385G>T, XM_006712677.4:c.385G>T, XM_006712677.3:c.385G>T, XM_006712677.2:c.385G>T, XM_006712677.1:c.385G>T, NM_199229.3:c.589G>T, NM_199229.2:c.589G>T, NM_006916.3:c.439G>T, NM_006916.2:c.439G>T, XR_001738880.3:n.613G>T, XR_001738880.2:n.623G>T, XR_001738880.1:n.686G>T, NM_001318927.2:c.*9G>T, NM_001318927.1:c.*9G>T, NM_001278283.2:c.439G>T, NM_001278283.1:c.439G>T, NM_001278289.2:c.*28G>T, NM_001278289.1:c.*28G>T, NM_001318926.2:c.643G>T, NM_001318926.1:c.643G>T, NM_001278282.2:c.439G>T, NM_001278282.1:c.439G>T, NM_001318929.2:c.*9G>T, NM_001318929.1:c.*9G>T, NM_001318930.2:c.385G>T, NM_001318930.1:c.385G>T, NM_001318931.2:c.385G>T, NM_001318931.1:c.385G>T, NM_001318928.2:c.538G>T, NM_001318928.1:c.538G>T, NM_001278286.2:c.385G>T, NM_001278286.1:c.385G>T, NM_001278288.2:c.385G>T, NM_001278288.1:c.385G>T, NM_001278285.2:c.502G>T, NM_001278285.1:c.502G>T, XM_047445381.1:c.385G>T, XP_006712740.1:p.Gly129Cys, NP_954699.1:p.Gly197Cys, NP_008847.1:p.Gly147Cys, NP_001265212.1:p.Gly147Cys, NP_001305855.1:p.Gly215Cys, NP_001265211.1:p.Gly147Cys, NP_001305859.1:p.Gly129Cys, NP_001305860.1:p.Gly129Cys, NP_001305857.1:p.Gly180Cys, NP_001265215.1:p.Gly129Cys, NP_001265217.1:p.Gly129Cys, NP_001265214.1:p.Gly168Cys, XP_047301337.1:p.Gly129Cys

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