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Items: 1 to 20 of 332

1.

rs1490288399 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:22901839 (GRCh38)
    14:23371048 (GRCh37)
    Canonical SPDI:
    NC_000014.9:22901838:A:G
    Gene:
    RBM23 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    HGVS:
    NC_000014.9:g.22901839A>G, NC_000014.8:g.23371048A>G, NM_018107.5:c.1243T>C, NM_018107.4:c.1243T>C, XM_011536895.4:c.1321T>C, XM_011536895.3:c.1321T>C, XM_011536895.2:c.1321T>C, XM_011536895.1:c.1321T>C, XM_011536893.4:c.1375T>C, XM_011536893.3:c.1375T>C, XM_011536893.2:c.1375T>C, XM_011536893.1:c.1375T>C, XM_011536897.3:c.1297T>C, XM_011536897.2:c.1297T>C, XM_011536897.1:c.1297T>C, XM_011536892.3:c.1375T>C, XM_011536892.2:c.1375T>C, XM_011536892.1:c.1375T>C, XM_011536894.3:c.1369T>C, XM_011536894.2:c.1369T>C, XM_011536894.1:c.1369T>C, XM_011536896.3:c.1321T>C, XM_011536896.2:c.1321T>C, XM_011536896.1:c.1321T>C, NM_001352766.2:c.1291T>C, NM_001352766.1:c.1291T>C, NM_001352762.2:c.781T>C, NM_001352762.1:c.781T>C, NM_001352764.2:c.1423T>C, NM_001352764.1:c.1423T>C, NM_001352763.2:c.1291T>C, NM_001352763.1:c.1291T>C, NM_001352765.2:c.1243T>C, NM_001352765.1:c.1243T>C, NM_001077351.2:c.1291T>C, NM_001077351.1:c.1291T>C, NM_001077352.2:c.1189T>C, NM_001077352.1:c.1189T>C, XM_011536902.2:c.781T>C, XM_011536902.1:c.781T>C, NM_001308044.2:c.781T>C, NM_001308044.1:c.781T>C, XM_011536903.2:c.781T>C, XM_011536903.1:c.781T>C, XM_011536906.2:c.781T>C, XM_011536906.1:c.781T>C, XM_047431521.1:c.781T>C, NP_060577.3:p.Ser415Pro, XP_011535197.1:p.Ser441Pro, XP_011535195.1:p.Ser459Pro, XP_011535199.1:p.Ser433Pro, XP_011535194.1:p.Ser459Pro, XP_011535196.1:p.Ser457Pro, XP_011535198.1:p.Ser441Pro, NP_001339695.1:p.Ser431Pro, NP_001339691.1:p.Ser261Pro, NP_001339693.1:p.Ser475Pro, NP_001339692.1:p.Ser431Pro, NP_001339694.1:p.Ser415Pro, NP_001070819.1:p.Ser431Pro, NP_001070820.1:p.Ser397Pro, XP_011535204.1:p.Ser261Pro, NP_001294973.1:p.Ser261Pro, XP_011535205.1:p.Ser261Pro, XP_011535208.1:p.Ser261Pro, XP_047287477.1:p.Ser261Pro

    2.

    rs1476112196 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      14:22901854 (GRCh38)
      14:23371063 (GRCh37)
      Canonical SPDI:
      NC_000014.9:22901853:GGG:GG
      Gene:
      RBM23 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GG=0./0 (ALFA)
      -=0.000004/1 (GnomAD_exomes)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000014.9:g.22901856del, NC_000014.8:g.23371065del, NM_018107.5:c.1228del, NM_018107.4:c.1228del, XM_011536895.4:c.1306del, XM_011536895.3:c.1306del, XM_011536895.2:c.1306del, XM_011536895.1:c.1306del, XM_011536893.4:c.1360del, XM_011536893.3:c.1360del, XM_011536893.2:c.1360del, XM_011536893.1:c.1360del, XM_011536897.3:c.1282del, XM_011536897.2:c.1282del, XM_011536897.1:c.1282del, XM_011536892.3:c.1360del, XM_011536892.2:c.1360del, XM_011536892.1:c.1360del, XM_011536894.3:c.1354del, XM_011536894.2:c.1354del, XM_011536894.1:c.1354del, XM_011536896.3:c.1306del, XM_011536896.2:c.1306del, XM_011536896.1:c.1306del, NM_001352766.2:c.1276del, NM_001352766.1:c.1276del, NM_001352762.2:c.766del, NM_001352762.1:c.766del, NM_001352764.2:c.1408del, NM_001352764.1:c.1408del, NM_001352763.2:c.1276del, NM_001352763.1:c.1276del, NM_001352765.2:c.1228del, NM_001352765.1:c.1228del, NM_001077351.2:c.1276del, NM_001077351.1:c.1276del, NM_001077352.2:c.1174del, NM_001077352.1:c.1174del, XM_011536902.2:c.766del, XM_011536902.1:c.766del, NM_001308044.2:c.766del, NM_001308044.1:c.766del, XM_011536903.2:c.766del, XM_011536903.1:c.766del, XM_011536906.2:c.766del, XM_011536906.1:c.766del, XM_047431521.1:c.766del, NP_060577.3:p.Gln410fs, XP_011535197.1:p.Gln436fs, XP_011535195.1:p.Gln454fs, XP_011535199.1:p.Gln428fs, XP_011535194.1:p.Gln454fs, XP_011535196.1:p.Gln452fs, XP_011535198.1:p.Gln436fs, NP_001339695.1:p.Gln426fs, NP_001339691.1:p.Gln256fs, NP_001339693.1:p.Gln470fs, NP_001339692.1:p.Gln426fs, NP_001339694.1:p.Gln410fs, NP_001070819.1:p.Gln426fs, NP_001070820.1:p.Gln392fs, XP_011535204.1:p.Gln256fs, NP_001294973.1:p.Gln256fs, XP_011535205.1:p.Gln256fs, XP_011535208.1:p.Gln256fs, XP_047287477.1:p.Gln256fs

      3.

      rs1472972525 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        14:22905383 (GRCh38)
        14:23374592 (GRCh37)
        Canonical SPDI:
        NC_000014.9:22905382:G:A,NC_000014.9:22905382:G:C
        Gene:
        RBM23 (Varview)
        Functional Consequence:
        missense_variant,stop_gained,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000043/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.22905383G>A, NC_000014.9:g.22905383G>C, NC_000014.8:g.23374592G>A, NC_000014.8:g.23374592G>C, NM_018107.5:c.478C>T, NM_018107.5:c.478C>G, NM_018107.4:c.478C>T, NM_018107.4:c.478C>G, XM_011536895.4:c.556C>T, XM_011536895.4:c.556C>G, XM_011536895.3:c.556C>T, XM_011536895.3:c.556C>G, XM_011536895.2:c.556C>T, XM_011536895.2:c.556C>G, XM_011536895.1:c.556C>T, XM_011536895.1:c.556C>G, XM_011536893.4:c.610C>T, XM_011536893.4:c.610C>G, XM_011536893.3:c.610C>T, XM_011536893.3:c.610C>G, XM_011536893.2:c.610C>T, XM_011536893.2:c.610C>G, XM_011536893.1:c.610C>T, XM_011536893.1:c.610C>G, XM_011536897.3:c.532C>T, XM_011536897.3:c.532C>G, XM_011536897.2:c.532C>T, XM_011536897.2:c.532C>G, XM_011536897.1:c.532C>T, XM_011536897.1:c.532C>G, XM_011536892.3:c.610C>T, XM_011536892.3:c.610C>G, XM_011536892.2:c.610C>T, XM_011536892.2:c.610C>G, XM_011536892.1:c.610C>T, XM_011536892.1:c.610C>G, XM_011536894.3:c.604C>T, XM_011536894.3:c.604C>G, XM_011536894.2:c.604C>T, XM_011536894.2:c.604C>G, XM_011536894.1:c.604C>T, XM_011536894.1:c.604C>G, XM_011536896.3:c.556C>T, XM_011536896.3:c.556C>G, XM_011536896.2:c.556C>T, XM_011536896.2:c.556C>G, XM_011536896.1:c.556C>T, XM_011536896.1:c.556C>G, NM_001352766.2:c.526C>T, NM_001352766.2:c.526C>G, NM_001352766.1:c.526C>T, NM_001352766.1:c.526C>G, NM_001352762.2:c.16C>T, NM_001352762.2:c.16C>G, NM_001352762.1:c.16C>T, NM_001352762.1:c.16C>G, NM_001352764.2:c.658C>T, NM_001352764.2:c.658C>G, NM_001352764.1:c.658C>T, NM_001352764.1:c.658C>G, NM_001352763.2:c.526C>T, NM_001352763.2:c.526C>G, NM_001352763.1:c.526C>T, NM_001352763.1:c.526C>G, NM_001352765.2:c.478C>T, NM_001352765.2:c.478C>G, NM_001352765.1:c.478C>T, NM_001352765.1:c.478C>G, NM_001077351.2:c.526C>T, NM_001077351.2:c.526C>G, NM_001077351.1:c.526C>T, NM_001077351.1:c.526C>G, NM_001077352.2:c.424C>T, NM_001077352.2:c.424C>G, NM_001077352.1:c.424C>T, NM_001077352.1:c.424C>G, XM_011536902.2:c.16C>T, XM_011536902.2:c.16C>G, XM_011536902.1:c.16C>T, XM_011536902.1:c.16C>G, NM_001308044.2:c.16C>T, NM_001308044.2:c.16C>G, NM_001308044.1:c.16C>T, NM_001308044.1:c.16C>G, XM_011536903.2:c.16C>T, XM_011536903.2:c.16C>G, XM_011536903.1:c.16C>T, XM_011536903.1:c.16C>G, XM_011536906.2:c.16C>T, XM_011536906.2:c.16C>G, XM_011536906.1:c.16C>T, XM_011536906.1:c.16C>G, XM_024449644.2:c.658C>T, XM_024449644.2:c.658C>G, XM_024449644.1:c.658C>T, XM_024449644.1:c.658C>G, XM_047431521.1:c.16C>T, XM_047431521.1:c.16C>G, NP_060577.3:p.Arg160Ter, NP_060577.3:p.Arg160Gly, XP_011535197.1:p.Arg186Ter, XP_011535197.1:p.Arg186Gly, XP_011535195.1:p.Arg204Ter, XP_011535195.1:p.Arg204Gly, XP_011535199.1:p.Arg178Ter, XP_011535199.1:p.Arg178Gly, XP_011535194.1:p.Arg204Ter, XP_011535194.1:p.Arg204Gly, XP_011535196.1:p.Arg202Ter, XP_011535196.1:p.Arg202Gly, XP_011535198.1:p.Arg186Ter, XP_011535198.1:p.Arg186Gly, NP_001339695.1:p.Arg176Ter, NP_001339695.1:p.Arg176Gly, NP_001339691.1:p.Arg6Ter, NP_001339691.1:p.Arg6Gly, NP_001339693.1:p.Arg220Ter, NP_001339693.1:p.Arg220Gly, NP_001339692.1:p.Arg176Ter, NP_001339692.1:p.Arg176Gly, NP_001339694.1:p.Arg160Ter, NP_001339694.1:p.Arg160Gly, NP_001070819.1:p.Arg176Ter, NP_001070819.1:p.Arg176Gly, NP_001070820.1:p.Arg142Ter, NP_001070820.1:p.Arg142Gly, XP_011535204.1:p.Arg6Ter, XP_011535204.1:p.Arg6Gly, NP_001294973.1:p.Arg6Ter, NP_001294973.1:p.Arg6Gly, XP_011535205.1:p.Arg6Ter, XP_011535205.1:p.Arg6Gly, XP_011535208.1:p.Arg6Ter, XP_011535208.1:p.Arg6Gly, XP_024305412.1:p.Arg220Ter, XP_024305412.1:p.Arg220Gly, XP_047287477.1:p.Arg6Ter, XP_047287477.1:p.Arg6Gly

        4.

        rs1468400517 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          14:22901982 (GRCh38)
          14:23371191 (GRCh37)
          Canonical SPDI:
          NC_000014.9:22901981:G:A,NC_000014.9:22901981:G:C
          Gene:
          RBM23 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
          HGVS:
          NC_000014.9:g.22901982G>A, NC_000014.9:g.22901982G>C, NC_000014.8:g.23371191G>A, NC_000014.8:g.23371191G>C, NM_018107.5:c.1196C>T, NM_018107.5:c.1196C>G, NM_018107.4:c.1196C>T, NM_018107.4:c.1196C>G, XM_011536895.4:c.1274C>T, XM_011536895.4:c.1274C>G, XM_011536895.3:c.1274C>T, XM_011536895.3:c.1274C>G, XM_011536895.2:c.1274C>T, XM_011536895.2:c.1274C>G, XM_011536895.1:c.1274C>T, XM_011536895.1:c.1274C>G, XM_011536893.4:c.1328C>T, XM_011536893.4:c.1328C>G, XM_011536893.3:c.1328C>T, XM_011536893.3:c.1328C>G, XM_011536893.2:c.1328C>T, XM_011536893.2:c.1328C>G, XM_011536893.1:c.1328C>T, XM_011536893.1:c.1328C>G, XM_011536897.3:c.1250C>T, XM_011536897.3:c.1250C>G, XM_011536897.2:c.1250C>T, XM_011536897.2:c.1250C>G, XM_011536897.1:c.1250C>T, XM_011536897.1:c.1250C>G, XM_011536892.3:c.1328C>T, XM_011536892.3:c.1328C>G, XM_011536892.2:c.1328C>T, XM_011536892.2:c.1328C>G, XM_011536892.1:c.1328C>T, XM_011536892.1:c.1328C>G, XM_011536894.3:c.1322C>T, XM_011536894.3:c.1322C>G, XM_011536894.2:c.1322C>T, XM_011536894.2:c.1322C>G, XM_011536894.1:c.1322C>T, XM_011536894.1:c.1322C>G, XM_011536896.3:c.1274C>T, XM_011536896.3:c.1274C>G, XM_011536896.2:c.1274C>T, XM_011536896.2:c.1274C>G, XM_011536896.1:c.1274C>T, XM_011536896.1:c.1274C>G, NM_001352766.2:c.1244C>T, NM_001352766.2:c.1244C>G, NM_001352766.1:c.1244C>T, NM_001352766.1:c.1244C>G, NM_001352762.2:c.734C>T, NM_001352762.2:c.734C>G, NM_001352762.1:c.734C>T, NM_001352762.1:c.734C>G, NM_001352764.2:c.1376C>T, NM_001352764.2:c.1376C>G, NM_001352764.1:c.1376C>T, NM_001352764.1:c.1376C>G, NM_001352763.2:c.1244C>T, NM_001352763.2:c.1244C>G, NM_001352763.1:c.1244C>T, NM_001352763.1:c.1244C>G, NM_001352765.2:c.1196C>T, NM_001352765.2:c.1196C>G, NM_001352765.1:c.1196C>T, NM_001352765.1:c.1196C>G, NM_001077351.2:c.1244C>T, NM_001077351.2:c.1244C>G, NM_001077351.1:c.1244C>T, NM_001077351.1:c.1244C>G, NM_001077352.2:c.1142C>T, NM_001077352.2:c.1142C>G, NM_001077352.1:c.1142C>T, NM_001077352.1:c.1142C>G, XM_011536902.2:c.734C>T, XM_011536902.2:c.734C>G, XM_011536902.1:c.734C>T, XM_011536902.1:c.734C>G, NM_001308044.2:c.734C>T, NM_001308044.2:c.734C>G, NM_001308044.1:c.734C>T, NM_001308044.1:c.734C>G, XM_011536903.2:c.734C>T, XM_011536903.2:c.734C>G, XM_011536903.1:c.734C>T, XM_011536903.1:c.734C>G, XM_011536906.2:c.734C>T, XM_011536906.2:c.734C>G, XM_011536906.1:c.734C>T, XM_011536906.1:c.734C>G, XM_047431521.1:c.734C>T, XM_047431521.1:c.734C>G, NP_060577.3:p.Thr399Ile, NP_060577.3:p.Thr399Ser, XP_011535197.1:p.Thr425Ile, XP_011535197.1:p.Thr425Ser, XP_011535195.1:p.Thr443Ile, XP_011535195.1:p.Thr443Ser, XP_011535199.1:p.Thr417Ile, XP_011535199.1:p.Thr417Ser, XP_011535194.1:p.Thr443Ile, XP_011535194.1:p.Thr443Ser, XP_011535196.1:p.Thr441Ile, XP_011535196.1:p.Thr441Ser, XP_011535198.1:p.Thr425Ile, XP_011535198.1:p.Thr425Ser, NP_001339695.1:p.Thr415Ile, NP_001339695.1:p.Thr415Ser, NP_001339691.1:p.Thr245Ile, NP_001339691.1:p.Thr245Ser, NP_001339693.1:p.Thr459Ile, NP_001339693.1:p.Thr459Ser, NP_001339692.1:p.Thr415Ile, NP_001339692.1:p.Thr415Ser, NP_001339694.1:p.Thr399Ile, NP_001339694.1:p.Thr399Ser, NP_001070819.1:p.Thr415Ile, NP_001070819.1:p.Thr415Ser, NP_001070820.1:p.Thr381Ile, NP_001070820.1:p.Thr381Ser, XP_011535204.1:p.Thr245Ile, XP_011535204.1:p.Thr245Ser, NP_001294973.1:p.Thr245Ile, NP_001294973.1:p.Thr245Ser, XP_011535205.1:p.Thr245Ile, XP_011535205.1:p.Thr245Ser, XP_011535208.1:p.Thr245Ile, XP_011535208.1:p.Thr245Ser, XP_047287477.1:p.Thr245Ile, XP_047287477.1:p.Thr245Ser

          5.

          rs1465127367 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            14:22905235 (GRCh38)
            14:23374444 (GRCh37)
            Canonical SPDI:
            NC_000014.9:22905234:T:A
            Gene:
            RBM23 (Varview)
            Functional Consequence:
            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_000014.9:g.22905235T>A, NC_000014.8:g.23374444T>A, NM_018107.5:c.537A>T, NM_018107.4:c.537A>T, XM_011536895.4:c.615A>T, XM_011536895.3:c.615A>T, XM_011536895.2:c.615A>T, XM_011536895.1:c.615A>T, XM_011536893.4:c.669A>T, XM_011536893.3:c.669A>T, XM_011536893.2:c.669A>T, XM_011536893.1:c.669A>T, XM_011536897.3:c.591A>T, XM_011536897.2:c.591A>T, XM_011536897.1:c.591A>T, XM_011536892.3:c.669A>T, XM_011536892.2:c.669A>T, XM_011536892.1:c.669A>T, XM_011536894.3:c.663A>T, XM_011536894.2:c.663A>T, XM_011536894.1:c.663A>T, XM_011536896.3:c.615A>T, XM_011536896.2:c.615A>T, XM_011536896.1:c.615A>T, NM_001352766.2:c.585A>T, NM_001352766.1:c.585A>T, NM_001352762.2:c.75A>T, NM_001352762.1:c.75A>T, NM_001352764.2:c.717A>T, NM_001352764.1:c.717A>T, NM_001352763.2:c.585A>T, NM_001352763.1:c.585A>T, NM_001352765.2:c.537A>T, NM_001352765.1:c.537A>T, NM_001077351.2:c.585A>T, NM_001077351.1:c.585A>T, NM_001077352.2:c.483A>T, NM_001077352.1:c.483A>T, XM_011536902.2:c.75A>T, XM_011536902.1:c.75A>T, NM_001308044.2:c.75A>T, NM_001308044.1:c.75A>T, XM_011536903.2:c.75A>T, XM_011536903.1:c.75A>T, XM_011536906.2:c.75A>T, XM_011536906.1:c.75A>T, XM_024449644.2:c.717A>T, XM_024449644.1:c.717A>T, XM_047431521.1:c.75A>T

            6.

            rs1464187384 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G,T [Show Flanks]
              Chromosome:
              14:22905186 (GRCh38)
              14:23374395 (GRCh37)
              Canonical SPDI:
              NC_000014.9:22905185:C:A,NC_000014.9:22905185:C:G,NC_000014.9:22905185:C:T
              Gene:
              RBM23 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000014.9:g.22905186C>A, NC_000014.9:g.22905186C>G, NC_000014.9:g.22905186C>T, NC_000014.8:g.23374395C>A, NC_000014.8:g.23374395C>G, NC_000014.8:g.23374395C>T, NM_018107.5:c.586G>T, NM_018107.5:c.586G>C, NM_018107.5:c.586G>A, NM_018107.4:c.586G>T, NM_018107.4:c.586G>C, NM_018107.4:c.586G>A, XM_011536895.4:c.664G>T, XM_011536895.4:c.664G>C, XM_011536895.4:c.664G>A, XM_011536895.3:c.664G>T, XM_011536895.3:c.664G>C, XM_011536895.3:c.664G>A, XM_011536895.2:c.664G>T, XM_011536895.2:c.664G>C, XM_011536895.2:c.664G>A, XM_011536895.1:c.664G>T, XM_011536895.1:c.664G>C, XM_011536895.1:c.664G>A, XM_011536893.4:c.718G>T, XM_011536893.4:c.718G>C, XM_011536893.4:c.718G>A, XM_011536893.3:c.718G>T, XM_011536893.3:c.718G>C, XM_011536893.3:c.718G>A, XM_011536893.2:c.718G>T, XM_011536893.2:c.718G>C, XM_011536893.2:c.718G>A, XM_011536893.1:c.718G>T, XM_011536893.1:c.718G>C, XM_011536893.1:c.718G>A, XM_011536897.3:c.640G>T, XM_011536897.3:c.640G>C, XM_011536897.3:c.640G>A, XM_011536897.2:c.640G>T, XM_011536897.2:c.640G>C, XM_011536897.2:c.640G>A, XM_011536897.1:c.640G>T, XM_011536897.1:c.640G>C, XM_011536897.1:c.640G>A, XM_011536892.3:c.718G>T, XM_011536892.3:c.718G>C, XM_011536892.3:c.718G>A, XM_011536892.2:c.718G>T, XM_011536892.2:c.718G>C, XM_011536892.2:c.718G>A, XM_011536892.1:c.718G>T, XM_011536892.1:c.718G>C, XM_011536892.1:c.718G>A, XM_011536894.3:c.712G>T, XM_011536894.3:c.712G>C, XM_011536894.3:c.712G>A, XM_011536894.2:c.712G>T, XM_011536894.2:c.712G>C, XM_011536894.2:c.712G>A, XM_011536894.1:c.712G>T, XM_011536894.1:c.712G>C, XM_011536894.1:c.712G>A, XM_011536896.3:c.664G>T, XM_011536896.3:c.664G>C, XM_011536896.3:c.664G>A, XM_011536896.2:c.664G>T, XM_011536896.2:c.664G>C, XM_011536896.2:c.664G>A, XM_011536896.1:c.664G>T, XM_011536896.1:c.664G>C, XM_011536896.1:c.664G>A, NM_001352766.2:c.634G>T, NM_001352766.2:c.634G>C, NM_001352766.2:c.634G>A, NM_001352766.1:c.634G>T, NM_001352766.1:c.634G>C, NM_001352766.1:c.634G>A, NM_001352762.2:c.124G>T, NM_001352762.2:c.124G>C, NM_001352762.2:c.124G>A, NM_001352762.1:c.124G>T, NM_001352762.1:c.124G>C, NM_001352762.1:c.124G>A, NM_001352764.2:c.766G>T, NM_001352764.2:c.766G>C, NM_001352764.2:c.766G>A, NM_001352764.1:c.766G>T, NM_001352764.1:c.766G>C, NM_001352764.1:c.766G>A, NM_001352763.2:c.634G>T, NM_001352763.2:c.634G>C, NM_001352763.2:c.634G>A, NM_001352763.1:c.634G>T, NM_001352763.1:c.634G>C, NM_001352763.1:c.634G>A, NM_001352765.2:c.586G>T, NM_001352765.2:c.586G>C, NM_001352765.2:c.586G>A, NM_001352765.1:c.586G>T, NM_001352765.1:c.586G>C, NM_001352765.1:c.586G>A, NM_001077351.2:c.634G>T, NM_001077351.2:c.634G>C, NM_001077351.2:c.634G>A, NM_001077351.1:c.634G>T, NM_001077351.1:c.634G>C, NM_001077351.1:c.634G>A, NM_001077352.2:c.532G>T, NM_001077352.2:c.532G>C, NM_001077352.2:c.532G>A, NM_001077352.1:c.532G>T, NM_001077352.1:c.532G>C, NM_001077352.1:c.532G>A, XM_011536902.2:c.124G>T, XM_011536902.2:c.124G>C, XM_011536902.2:c.124G>A, XM_011536902.1:c.124G>T, XM_011536902.1:c.124G>C, XM_011536902.1:c.124G>A, NM_001308044.2:c.124G>T, NM_001308044.2:c.124G>C, NM_001308044.2:c.124G>A, NM_001308044.1:c.124G>T, NM_001308044.1:c.124G>C, NM_001308044.1:c.124G>A, XM_011536903.2:c.124G>T, XM_011536903.2:c.124G>C, XM_011536903.2:c.124G>A, XM_011536903.1:c.124G>T, XM_011536903.1:c.124G>C, XM_011536903.1:c.124G>A, XM_011536906.2:c.124G>T, XM_011536906.2:c.124G>C, XM_011536906.2:c.124G>A, XM_011536906.1:c.124G>T, XM_011536906.1:c.124G>C, XM_011536906.1:c.124G>A, XM_024449644.2:c.766G>T, XM_024449644.2:c.766G>C, XM_024449644.2:c.766G>A, XM_024449644.1:c.766G>T, XM_024449644.1:c.766G>C, XM_024449644.1:c.766G>A, XM_047431521.1:c.124G>T, XM_047431521.1:c.124G>C, XM_047431521.1:c.124G>A, NP_060577.3:p.Val196Leu, NP_060577.3:p.Val196Leu, NP_060577.3:p.Val196Met, XP_011535197.1:p.Val222Leu, XP_011535197.1:p.Val222Leu, XP_011535197.1:p.Val222Met, XP_011535195.1:p.Val240Leu, XP_011535195.1:p.Val240Leu, XP_011535195.1:p.Val240Met, XP_011535199.1:p.Val214Leu, XP_011535199.1:p.Val214Leu, XP_011535199.1:p.Val214Met, XP_011535194.1:p.Val240Leu, XP_011535194.1:p.Val240Leu, XP_011535194.1:p.Val240Met, XP_011535196.1:p.Val238Leu, XP_011535196.1:p.Val238Leu, XP_011535196.1:p.Val238Met, XP_011535198.1:p.Val222Leu, XP_011535198.1:p.Val222Leu, XP_011535198.1:p.Val222Met, NP_001339695.1:p.Val212Leu, NP_001339695.1:p.Val212Leu, NP_001339695.1:p.Val212Met, NP_001339691.1:p.Val42Leu, NP_001339691.1:p.Val42Leu, NP_001339691.1:p.Val42Met, NP_001339693.1:p.Val256Leu, NP_001339693.1:p.Val256Leu, NP_001339693.1:p.Val256Met, NP_001339692.1:p.Val212Leu, NP_001339692.1:p.Val212Leu, NP_001339692.1:p.Val212Met, NP_001339694.1:p.Val196Leu, NP_001339694.1:p.Val196Leu, NP_001339694.1:p.Val196Met, NP_001070819.1:p.Val212Leu, NP_001070819.1:p.Val212Leu, NP_001070819.1:p.Val212Met, NP_001070820.1:p.Val178Leu, NP_001070820.1:p.Val178Leu, NP_001070820.1:p.Val178Met, XP_011535204.1:p.Val42Leu, XP_011535204.1:p.Val42Leu, XP_011535204.1:p.Val42Met, NP_001294973.1:p.Val42Leu, NP_001294973.1:p.Val42Leu, NP_001294973.1:p.Val42Met, XP_011535205.1:p.Val42Leu, XP_011535205.1:p.Val42Leu, XP_011535205.1:p.Val42Met, XP_011535208.1:p.Val42Leu, XP_011535208.1:p.Val42Leu, XP_011535208.1:p.Val42Met, XP_024305412.1:p.Val256Leu, XP_024305412.1:p.Val256Leu, XP_024305412.1:p.Val256Met, XP_047287477.1:p.Val42Leu, XP_047287477.1:p.Val42Leu, XP_047287477.1:p.Val42Met

              7.

              rs1462549074 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:22902043 (GRCh38)
                14:23371252 (GRCh37)
                Canonical SPDI:
                NC_000014.9:22902042:C:T
                Gene:
                RBM23 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.22902043C>T, NC_000014.8:g.23371252C>T, NM_018107.5:c.1135G>A, NM_018107.4:c.1135G>A, XM_011536895.4:c.1213G>A, XM_011536895.3:c.1213G>A, XM_011536895.2:c.1213G>A, XM_011536895.1:c.1213G>A, XM_011536893.4:c.1267G>A, XM_011536893.3:c.1267G>A, XM_011536893.2:c.1267G>A, XM_011536893.1:c.1267G>A, XM_011536897.3:c.1189G>A, XM_011536897.2:c.1189G>A, XM_011536897.1:c.1189G>A, XM_011536892.3:c.1267G>A, XM_011536892.2:c.1267G>A, XM_011536892.1:c.1267G>A, XM_011536894.3:c.1261G>A, XM_011536894.2:c.1261G>A, XM_011536894.1:c.1261G>A, XM_011536896.3:c.1213G>A, XM_011536896.2:c.1213G>A, XM_011536896.1:c.1213G>A, NM_001352766.2:c.1183G>A, NM_001352766.1:c.1183G>A, NM_001352762.2:c.673G>A, NM_001352762.1:c.673G>A, NM_001352764.2:c.1315G>A, NM_001352764.1:c.1315G>A, NM_001352763.2:c.1183G>A, NM_001352763.1:c.1183G>A, NM_001352765.2:c.1135G>A, NM_001352765.1:c.1135G>A, NM_001077351.2:c.1183G>A, NM_001077351.1:c.1183G>A, NM_001077352.2:c.1081G>A, NM_001077352.1:c.1081G>A, XM_011536902.2:c.673G>A, XM_011536902.1:c.673G>A, NM_001308044.2:c.673G>A, NM_001308044.1:c.673G>A, XM_011536903.2:c.673G>A, XM_011536903.1:c.673G>A, XM_011536906.2:c.673G>A, XM_011536906.1:c.673G>A, XM_047431521.1:c.673G>A, NP_060577.3:p.Ala379Thr, XP_011535197.1:p.Ala405Thr, XP_011535195.1:p.Ala423Thr, XP_011535199.1:p.Ala397Thr, XP_011535194.1:p.Ala423Thr, XP_011535196.1:p.Ala421Thr, XP_011535198.1:p.Ala405Thr, NP_001339695.1:p.Ala395Thr, NP_001339691.1:p.Ala225Thr, NP_001339693.1:p.Ala439Thr, NP_001339692.1:p.Ala395Thr, NP_001339694.1:p.Ala379Thr, NP_001070819.1:p.Ala395Thr, NP_001070820.1:p.Ala361Thr, XP_011535204.1:p.Ala225Thr, NP_001294973.1:p.Ala225Thr, XP_011535205.1:p.Ala225Thr, XP_011535208.1:p.Ala225Thr, XP_047287477.1:p.Ala225Thr

                8.

                rs1461004888 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  14:22905395 (GRCh38)
                  14:23374604 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:22905394:G:T
                  Gene:
                  RBM23 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000283/5 (TOMMO)
                  HGVS:
                  NC_000014.9:g.22905395G>T, NC_000014.8:g.23374604G>T, NM_018107.5:c.466C>A, NM_018107.4:c.466C>A, XM_011536895.4:c.544C>A, XM_011536895.3:c.544C>A, XM_011536895.2:c.544C>A, XM_011536895.1:c.544C>A, XM_011536893.4:c.598C>A, XM_011536893.3:c.598C>A, XM_011536893.2:c.598C>A, XM_011536893.1:c.598C>A, XM_011536897.3:c.520C>A, XM_011536897.2:c.520C>A, XM_011536897.1:c.520C>A, XM_011536892.3:c.598C>A, XM_011536892.2:c.598C>A, XM_011536892.1:c.598C>A, XM_011536894.3:c.592C>A, XM_011536894.2:c.592C>A, XM_011536894.1:c.592C>A, XM_011536896.3:c.544C>A, XM_011536896.2:c.544C>A, XM_011536896.1:c.544C>A, NM_001352766.2:c.514C>A, NM_001352766.1:c.514C>A, NM_001352762.2:c.4C>A, NM_001352762.1:c.4C>A, NM_001352764.2:c.646C>A, NM_001352764.1:c.646C>A, NM_001352763.2:c.514C>A, NM_001352763.1:c.514C>A, NM_001352765.2:c.466C>A, NM_001352765.1:c.466C>A, NM_001077351.2:c.514C>A, NM_001077351.1:c.514C>A, NM_001077352.2:c.412C>A, NM_001077352.1:c.412C>A, XM_011536902.2:c.4C>A, XM_011536902.1:c.4C>A, NM_001308044.2:c.4C>A, NM_001308044.1:c.4C>A, XM_011536903.2:c.4C>A, XM_011536903.1:c.4C>A, XM_011536906.2:c.4C>A, XM_011536906.1:c.4C>A, XM_024449644.2:c.646C>A, XM_024449644.1:c.646C>A, XM_047431521.1:c.4C>A, NP_060577.3:p.Gln156Lys, XP_011535197.1:p.Gln182Lys, XP_011535195.1:p.Gln200Lys, XP_011535199.1:p.Gln174Lys, XP_011535194.1:p.Gln200Lys, XP_011535196.1:p.Gln198Lys, XP_011535198.1:p.Gln182Lys, NP_001339695.1:p.Gln172Lys, NP_001339691.1:p.Gln2Lys, NP_001339693.1:p.Gln216Lys, NP_001339692.1:p.Gln172Lys, NP_001339694.1:p.Gln156Lys, NP_001070819.1:p.Gln172Lys, NP_001070820.1:p.Gln138Lys, XP_011535204.1:p.Gln2Lys, NP_001294973.1:p.Gln2Lys, XP_011535205.1:p.Gln2Lys, XP_011535208.1:p.Gln2Lys, XP_024305412.1:p.Gln216Lys, XP_047287477.1:p.Gln2Lys

                  9.

                  rs1456277620 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    14:22902269 (GRCh38)
                    14:23371478 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:22902268:G:C
                    Gene:
                    RBM23 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_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_000014.9:g.22902269G>C, NC_000014.8:g.23371478G>C, NM_018107.5:c.996C>G, NM_018107.4:c.996C>G, XM_011536895.4:c.1074C>G, XM_011536895.3:c.1074C>G, XM_011536895.2:c.1074C>G, XM_011536895.1:c.1074C>G, XM_011536893.4:c.1128C>G, XM_011536893.3:c.1128C>G, XM_011536893.2:c.1128C>G, XM_011536893.1:c.1128C>G, XM_011536897.3:c.1050C>G, XM_011536897.2:c.1050C>G, XM_011536897.1:c.1050C>G, XM_011536892.3:c.1128C>G, XM_011536892.2:c.1128C>G, XM_011536892.1:c.1128C>G, XM_011536894.3:c.1122C>G, XM_011536894.2:c.1122C>G, XM_011536894.1:c.1122C>G, XM_011536896.3:c.1074C>G, XM_011536896.2:c.1074C>G, XM_011536896.1:c.1074C>G, NM_001352766.2:c.1044C>G, NM_001352766.1:c.1044C>G, NM_001352762.2:c.534C>G, NM_001352762.1:c.534C>G, NM_001352764.2:c.1176C>G, NM_001352764.1:c.1176C>G, NM_001352763.2:c.1044C>G, NM_001352763.1:c.1044C>G, NM_001352765.2:c.996C>G, NM_001352765.1:c.996C>G, NM_001077351.2:c.1044C>G, NM_001077351.1:c.1044C>G, NM_001077352.2:c.942C>G, NM_001077352.1:c.942C>G, XM_011536902.2:c.534C>G, XM_011536902.1:c.534C>G, NM_001308044.2:c.534C>G, NM_001308044.1:c.534C>G, XM_011536903.2:c.534C>G, XM_011536903.1:c.534C>G, XM_011536906.2:c.534C>G, XM_011536906.1:c.534C>G, XM_047431521.1:c.534C>G, NP_060577.3:p.Asp332Glu, XP_011535197.1:p.Asp358Glu, XP_011535195.1:p.Asp376Glu, XP_011535199.1:p.Asp350Glu, XP_011535194.1:p.Asp376Glu, XP_011535196.1:p.Asp374Glu, XP_011535198.1:p.Asp358Glu, NP_001339695.1:p.Asp348Glu, NP_001339691.1:p.Asp178Glu, NP_001339693.1:p.Asp392Glu, NP_001339692.1:p.Asp348Glu, NP_001339694.1:p.Asp332Glu, NP_001070819.1:p.Asp348Glu, NP_001070820.1:p.Asp314Glu, XP_011535204.1:p.Asp178Glu, NP_001294973.1:p.Asp178Glu, XP_011535205.1:p.Asp178Glu, XP_011535208.1:p.Asp178Glu, XP_047287477.1:p.Asp178Glu

                    10.

                    rs1456194317 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:22905177 (GRCh38)
                      14:23374386 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:22905176:A:G
                      Gene:
                      RBM23 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.22905177A>G, NC_000014.8:g.23374386A>G, NM_018107.5:c.595T>C, NM_018107.4:c.595T>C, XM_011536895.4:c.673T>C, XM_011536895.3:c.673T>C, XM_011536895.2:c.673T>C, XM_011536895.1:c.673T>C, XM_011536893.4:c.727T>C, XM_011536893.3:c.727T>C, XM_011536893.2:c.727T>C, XM_011536893.1:c.727T>C, XM_011536897.3:c.649T>C, XM_011536897.2:c.649T>C, XM_011536897.1:c.649T>C, XM_011536892.3:c.727T>C, XM_011536892.2:c.727T>C, XM_011536892.1:c.727T>C, XM_011536894.3:c.721T>C, XM_011536894.2:c.721T>C, XM_011536894.1:c.721T>C, XM_011536896.3:c.673T>C, XM_011536896.2:c.673T>C, XM_011536896.1:c.673T>C, NM_001352766.2:c.643T>C, NM_001352766.1:c.643T>C, NM_001352762.2:c.133T>C, NM_001352762.1:c.133T>C, NM_001352764.2:c.775T>C, NM_001352764.1:c.775T>C, NM_001352763.2:c.643T>C, NM_001352763.1:c.643T>C, NM_001352765.2:c.595T>C, NM_001352765.1:c.595T>C, NM_001077351.2:c.643T>C, NM_001077351.1:c.643T>C, NM_001077352.2:c.541T>C, NM_001077352.1:c.541T>C, XM_011536902.2:c.133T>C, XM_011536902.1:c.133T>C, NM_001308044.2:c.133T>C, NM_001308044.1:c.133T>C, XM_011536903.2:c.133T>C, XM_011536903.1:c.133T>C, XM_011536906.2:c.133T>C, XM_011536906.1:c.133T>C, XM_024449644.2:c.775T>C, XM_024449644.1:c.775T>C, XM_047431521.1:c.133T>C, NP_060577.3:p.Cys199Arg, XP_011535197.1:p.Cys225Arg, XP_011535195.1:p.Cys243Arg, XP_011535199.1:p.Cys217Arg, XP_011535194.1:p.Cys243Arg, XP_011535196.1:p.Cys241Arg, XP_011535198.1:p.Cys225Arg, NP_001339695.1:p.Cys215Arg, NP_001339691.1:p.Cys45Arg, NP_001339693.1:p.Cys259Arg, NP_001339692.1:p.Cys215Arg, NP_001339694.1:p.Cys199Arg, NP_001070819.1:p.Cys215Arg, NP_001070820.1:p.Cys181Arg, XP_011535204.1:p.Cys45Arg, NP_001294973.1:p.Cys45Arg, XP_011535205.1:p.Cys45Arg, XP_011535208.1:p.Cys45Arg, XP_024305412.1:p.Cys259Arg, XP_047287477.1:p.Cys45Arg

                      11.

                      rs1454002258 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        14:22904277 (GRCh38)
                        14:23373486 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:22904276:C:A,NC_000014.9:22904276:C:T
                        Gene:
                        RBM23 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000014.9:g.22904277C>A, NC_000014.9:g.22904277C>T, NC_000014.8:g.23373486C>A, NC_000014.8:g.23373486C>T, NM_018107.5:c.866G>T, NM_018107.5:c.866G>A, NM_018107.4:c.866G>T, NM_018107.4:c.866G>A, XM_011536895.4:c.944G>T, XM_011536895.4:c.944G>A, XM_011536895.3:c.944G>T, XM_011536895.3:c.944G>A, XM_011536895.2:c.944G>T, XM_011536895.2:c.944G>A, XM_011536895.1:c.944G>T, XM_011536895.1:c.944G>A, XM_011536893.4:c.998G>T, XM_011536893.4:c.998G>A, XM_011536893.3:c.998G>T, XM_011536893.3:c.998G>A, XM_011536893.2:c.998G>T, XM_011536893.2:c.998G>A, XM_011536893.1:c.998G>T, XM_011536893.1:c.998G>A, XM_011536897.3:c.920G>T, XM_011536897.3:c.920G>A, XM_011536897.2:c.920G>T, XM_011536897.2:c.920G>A, XM_011536897.1:c.920G>T, XM_011536897.1:c.920G>A, XM_011536892.3:c.998G>T, XM_011536892.3:c.998G>A, XM_011536892.2:c.998G>T, XM_011536892.2:c.998G>A, XM_011536892.1:c.998G>T, XM_011536892.1:c.998G>A, XM_011536894.3:c.992G>T, XM_011536894.3:c.992G>A, XM_011536894.2:c.992G>T, XM_011536894.2:c.992G>A, XM_011536894.1:c.992G>T, XM_011536894.1:c.992G>A, XM_011536896.3:c.944G>T, XM_011536896.3:c.944G>A, XM_011536896.2:c.944G>T, XM_011536896.2:c.944G>A, XM_011536896.1:c.944G>T, XM_011536896.1:c.944G>A, NM_001352766.2:c.914G>T, NM_001352766.2:c.914G>A, NM_001352766.1:c.914G>T, NM_001352766.1:c.914G>A, NM_001352762.2:c.404G>T, NM_001352762.2:c.404G>A, NM_001352762.1:c.404G>T, NM_001352762.1:c.404G>A, NM_001352764.2:c.1046G>T, NM_001352764.2:c.1046G>A, NM_001352764.1:c.1046G>T, NM_001352764.1:c.1046G>A, NM_001352763.2:c.914G>T, NM_001352763.2:c.914G>A, NM_001352763.1:c.914G>T, NM_001352763.1:c.914G>A, NM_001352765.2:c.866G>T, NM_001352765.2:c.866G>A, NM_001352765.1:c.866G>T, NM_001352765.1:c.866G>A, NM_001077351.2:c.914G>T, NM_001077351.2:c.914G>A, NM_001077351.1:c.914G>T, NM_001077351.1:c.914G>A, NM_001077352.2:c.812G>T, NM_001077352.2:c.812G>A, NM_001077352.1:c.812G>T, NM_001077352.1:c.812G>A, XM_011536902.2:c.404G>T, XM_011536902.2:c.404G>A, XM_011536902.1:c.404G>T, XM_011536902.1:c.404G>A, NM_001308044.2:c.404G>T, NM_001308044.2:c.404G>A, NM_001308044.1:c.404G>T, NM_001308044.1:c.404G>A, XM_011536903.2:c.404G>T, XM_011536903.2:c.404G>A, XM_011536903.1:c.404G>T, XM_011536903.1:c.404G>A, XM_011536906.2:c.404G>T, XM_011536906.2:c.404G>A, XM_011536906.1:c.404G>T, XM_011536906.1:c.404G>A, XM_024449644.2:c.1046G>T, XM_024449644.2:c.1046G>A, XM_024449644.1:c.1046G>T, XM_024449644.1:c.1046G>A, XM_047431521.1:c.404G>T, XM_047431521.1:c.404G>A, NP_060577.3:p.Gly289Val, NP_060577.3:p.Gly289Asp, XP_011535197.1:p.Gly315Val, XP_011535197.1:p.Gly315Asp, XP_011535195.1:p.Gly333Val, XP_011535195.1:p.Gly333Asp, XP_011535199.1:p.Gly307Val, XP_011535199.1:p.Gly307Asp, XP_011535194.1:p.Gly333Val, XP_011535194.1:p.Gly333Asp, XP_011535196.1:p.Gly331Val, XP_011535196.1:p.Gly331Asp, XP_011535198.1:p.Gly315Val, XP_011535198.1:p.Gly315Asp, NP_001339695.1:p.Gly305Val, NP_001339695.1:p.Gly305Asp, NP_001339691.1:p.Gly135Val, NP_001339691.1:p.Gly135Asp, NP_001339693.1:p.Gly349Val, NP_001339693.1:p.Gly349Asp, NP_001339692.1:p.Gly305Val, NP_001339692.1:p.Gly305Asp, NP_001339694.1:p.Gly289Val, NP_001339694.1:p.Gly289Asp, NP_001070819.1:p.Gly305Val, NP_001070819.1:p.Gly305Asp, NP_001070820.1:p.Gly271Val, NP_001070820.1:p.Gly271Asp, XP_011535204.1:p.Gly135Val, XP_011535204.1:p.Gly135Asp, NP_001294973.1:p.Gly135Val, NP_001294973.1:p.Gly135Asp, XP_011535205.1:p.Gly135Val, XP_011535205.1:p.Gly135Asp, XP_011535208.1:p.Gly135Val, XP_011535208.1:p.Gly135Asp, XP_024305412.1:p.Gly349Val, XP_024305412.1:p.Gly349Asp, XP_047287477.1:p.Gly135Val, XP_047287477.1:p.Gly135Asp

                        12.

                        rs1449271677 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:22904990 (GRCh38)
                          14:23374199 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:22904989:G:A
                          Gene:
                          RBM23 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000014.9:g.22904990G>A, NC_000014.8:g.23374199G>A, NM_018107.5:c.701C>T, NM_018107.4:c.701C>T, XM_011536895.4:c.779C>T, XM_011536895.3:c.779C>T, XM_011536895.2:c.779C>T, XM_011536895.1:c.779C>T, XM_011536893.4:c.833C>T, XM_011536893.3:c.833C>T, XM_011536893.2:c.833C>T, XM_011536893.1:c.833C>T, XM_011536897.3:c.755C>T, XM_011536897.2:c.755C>T, XM_011536897.1:c.755C>T, XM_011536892.3:c.833C>T, XM_011536892.2:c.833C>T, XM_011536892.1:c.833C>T, XM_011536894.3:c.827C>T, XM_011536894.2:c.827C>T, XM_011536894.1:c.827C>T, XM_011536896.3:c.779C>T, XM_011536896.2:c.779C>T, XM_011536896.1:c.779C>T, NM_001352766.2:c.749C>T, NM_001352766.1:c.749C>T, NM_001352762.2:c.239C>T, NM_001352762.1:c.239C>T, NM_001352764.2:c.881C>T, NM_001352764.1:c.881C>T, NM_001352763.2:c.749C>T, NM_001352763.1:c.749C>T, NM_001352765.2:c.701C>T, NM_001352765.1:c.701C>T, NM_001077351.2:c.749C>T, NM_001077351.1:c.749C>T, NM_001077352.2:c.647C>T, NM_001077352.1:c.647C>T, XM_011536902.2:c.239C>T, XM_011536902.1:c.239C>T, NM_001308044.2:c.239C>T, NM_001308044.1:c.239C>T, XM_011536903.2:c.239C>T, XM_011536903.1:c.239C>T, XM_011536906.2:c.239C>T, XM_011536906.1:c.239C>T, XM_024449644.2:c.881C>T, XM_024449644.1:c.881C>T, XM_047431521.1:c.239C>T, NP_060577.3:p.Ala234Val, XP_011535197.1:p.Ala260Val, XP_011535195.1:p.Ala278Val, XP_011535199.1:p.Ala252Val, XP_011535194.1:p.Ala278Val, XP_011535196.1:p.Ala276Val, XP_011535198.1:p.Ala260Val, NP_001339695.1:p.Ala250Val, NP_001339691.1:p.Ala80Val, NP_001339693.1:p.Ala294Val, NP_001339692.1:p.Ala250Val, NP_001339694.1:p.Ala234Val, NP_001070819.1:p.Ala250Val, NP_001070820.1:p.Ala216Val, XP_011535204.1:p.Ala80Val, NP_001294973.1:p.Ala80Val, XP_011535205.1:p.Ala80Val, XP_011535208.1:p.Ala80Val, XP_024305412.1:p.Ala294Val, XP_047287477.1:p.Ala80Val

                          13.

                          rs1445771261 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->ACG,CCG,TCG [Show Flanks]
                            Chromosome:
                            14:22902054 (GRCh38)
                            14:23371264 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:22902054:CG:CGACG,NC_000014.9:22902054:CG:CGCCG,NC_000014.9:22902054:CG:CGTCG
                            Gene:
                            RBM23 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,inframe_insertion
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CGACG=0./0 (ALFA)
                            HGVS:
                            NC_000014.9:g.22902056_22902057insACG, NC_000014.9:g.22902056_22902057insCCG, NC_000014.9:g.22902056_22902057insTCG, NC_000014.8:g.23371265_23371266insACG, NC_000014.8:g.23371265_23371266insCCG, NC_000014.8:g.23371265_23371266insTCG, NM_018107.5:c.1123_1124insTCG, NM_018107.5:c.1123_1124insGCG, NM_018107.5:c.1123_1124insACG, NM_018107.4:c.1123_1124insTCG, NM_018107.4:c.1123_1124insGCG, NM_018107.4:c.1123_1124insACG, XM_011536895.4:c.1201_1202insTCG, XM_011536895.4:c.1201_1202insGCG, XM_011536895.4:c.1201_1202insACG, XM_011536895.3:c.1201_1202insTCG, XM_011536895.3:c.1201_1202insGCG, XM_011536895.3:c.1201_1202insACG, XM_011536895.2:c.1201_1202insTCG, XM_011536895.2:c.1201_1202insGCG, XM_011536895.2:c.1201_1202insACG, XM_011536895.1:c.1201_1202insTCG, XM_011536895.1:c.1201_1202insGCG, XM_011536895.1:c.1201_1202insACG, XM_011536893.4:c.1255_1256insTCG, XM_011536893.4:c.1255_1256insGCG, XM_011536893.4:c.1255_1256insACG, XM_011536893.3:c.1255_1256insTCG, XM_011536893.3:c.1255_1256insGCG, XM_011536893.3:c.1255_1256insACG, XM_011536893.2:c.1255_1256insTCG, XM_011536893.2:c.1255_1256insGCG, XM_011536893.2:c.1255_1256insACG, XM_011536893.1:c.1255_1256insTCG, XM_011536893.1:c.1255_1256insGCG, XM_011536893.1:c.1255_1256insACG, XM_011536897.3:c.1177_1178insTCG, XM_011536897.3:c.1177_1178insGCG, XM_011536897.3:c.1177_1178insACG, XM_011536897.2:c.1177_1178insTCG, XM_011536897.2:c.1177_1178insGCG, XM_011536897.2:c.1177_1178insACG, XM_011536897.1:c.1177_1178insTCG, XM_011536897.1:c.1177_1178insGCG, XM_011536897.1:c.1177_1178insACG, XM_011536892.3:c.1255_1256insTCG, XM_011536892.3:c.1255_1256insGCG, XM_011536892.3:c.1255_1256insACG, XM_011536892.2:c.1255_1256insTCG, XM_011536892.2:c.1255_1256insGCG, XM_011536892.2:c.1255_1256insACG, XM_011536892.1:c.1255_1256insTCG, XM_011536892.1:c.1255_1256insGCG, XM_011536892.1:c.1255_1256insACG, XM_011536894.3:c.1249_1250insTCG, XM_011536894.3:c.1249_1250insGCG, XM_011536894.3:c.1249_1250insACG, XM_011536894.2:c.1249_1250insTCG, XM_011536894.2:c.1249_1250insGCG, XM_011536894.2:c.1249_1250insACG, XM_011536894.1:c.1249_1250insTCG, XM_011536894.1:c.1249_1250insGCG, XM_011536894.1:c.1249_1250insACG, XM_011536896.3:c.1201_1202insTCG, XM_011536896.3:c.1201_1202insGCG, XM_011536896.3:c.1201_1202insACG, XM_011536896.2:c.1201_1202insTCG, XM_011536896.2:c.1201_1202insGCG, XM_011536896.2:c.1201_1202insACG, XM_011536896.1:c.1201_1202insTCG, XM_011536896.1:c.1201_1202insGCG, XM_011536896.1:c.1201_1202insACG, NM_001352766.2:c.1171_1172insTCG, NM_001352766.2:c.1171_1172insGCG, NM_001352766.2:c.1171_1172insACG, NM_001352766.1:c.1171_1172insTCG, NM_001352766.1:c.1171_1172insGCG, NM_001352766.1:c.1171_1172insACG, NM_001352762.2:c.661_662insTCG, NM_001352762.2:c.661_662insGCG, NM_001352762.2:c.661_662insACG, NM_001352762.1:c.661_662insTCG, NM_001352762.1:c.661_662insGCG, NM_001352762.1:c.661_662insACG, NM_001352764.2:c.1303_1304insTCG, NM_001352764.2:c.1303_1304insGCG, NM_001352764.2:c.1303_1304insACG, NM_001352764.1:c.1303_1304insTCG, NM_001352764.1:c.1303_1304insGCG, NM_001352764.1:c.1303_1304insACG, NM_001352763.2:c.1171_1172insTCG, NM_001352763.2:c.1171_1172insGCG, NM_001352763.2:c.1171_1172insACG, NM_001352763.1:c.1171_1172insTCG, NM_001352763.1:c.1171_1172insGCG, NM_001352763.1:c.1171_1172insACG, NM_001352765.2:c.1123_1124insTCG, NM_001352765.2:c.1123_1124insGCG, NM_001352765.2:c.1123_1124insACG, NM_001352765.1:c.1123_1124insTCG, NM_001352765.1:c.1123_1124insGCG, NM_001352765.1:c.1123_1124insACG, NM_001077351.2:c.1171_1172insTCG, NM_001077351.2:c.1171_1172insGCG, NM_001077351.2:c.1171_1172insACG, NM_001077351.1:c.1171_1172insTCG, NM_001077351.1:c.1171_1172insGCG, NM_001077351.1:c.1171_1172insACG, NM_001077352.2:c.1069_1070insTCG, NM_001077352.2:c.1069_1070insGCG, NM_001077352.2:c.1069_1070insACG, NM_001077352.1:c.1069_1070insTCG, NM_001077352.1:c.1069_1070insGCG, NM_001077352.1:c.1069_1070insACG, XM_011536902.2:c.661_662insTCG, XM_011536902.2:c.661_662insGCG, XM_011536902.2:c.661_662insACG, XM_011536902.1:c.661_662insTCG, XM_011536902.1:c.661_662insGCG, XM_011536902.1:c.661_662insACG, NM_001308044.2:c.661_662insTCG, NM_001308044.2:c.661_662insGCG, NM_001308044.2:c.661_662insACG, NM_001308044.1:c.661_662insTCG, NM_001308044.1:c.661_662insGCG, NM_001308044.1:c.661_662insACG, XM_011536903.2:c.661_662insTCG, XM_011536903.2:c.661_662insGCG, XM_011536903.2:c.661_662insACG, XM_011536903.1:c.661_662insTCG, XM_011536903.1:c.661_662insGCG, XM_011536903.1:c.661_662insACG, XM_011536906.2:c.661_662insTCG, XM_011536906.2:c.661_662insGCG, XM_011536906.2:c.661_662insACG, XM_011536906.1:c.661_662insTCG, XM_011536906.1:c.661_662insGCG, XM_011536906.1:c.661_662insACG, XM_047431521.1:c.661_662insTCG, XM_047431521.1:c.661_662insGCG, XM_047431521.1:c.661_662insACG, NP_060577.3:p.Ala375_Ala376insVal, NP_060577.3:p.Ala375_Ala376insGly, NP_060577.3:p.Ala375_Ala376insAsp, XP_011535197.1:p.Ala401_Ala402insVal, XP_011535197.1:p.Ala401_Ala402insGly, XP_011535197.1:p.Ala401_Ala402insAsp, XP_011535195.1:p.Ala419_Ala420insVal, XP_011535195.1:p.Ala419_Ala420insGly, XP_011535195.1:p.Ala419_Ala420insAsp, XP_011535199.1:p.Ala393_Ala394insVal, XP_011535199.1:p.Ala393_Ala394insGly, XP_011535199.1:p.Ala393_Ala394insAsp, XP_011535194.1:p.Ala419_Ala420insVal, XP_011535194.1:p.Ala419_Ala420insGly, XP_011535194.1:p.Ala419_Ala420insAsp, XP_011535196.1:p.Ala417_Ala418insVal, XP_011535196.1:p.Ala417_Ala418insGly, XP_011535196.1:p.Ala417_Ala418insAsp, XP_011535198.1:p.Ala401_Ala402insVal, XP_011535198.1:p.Ala401_Ala402insGly, XP_011535198.1:p.Ala401_Ala402insAsp, NP_001339695.1:p.Ala391_Ala392insVal, NP_001339695.1:p.Ala391_Ala392insGly, NP_001339695.1:p.Ala391_Ala392insAsp, NP_001339691.1:p.Ala221_Ala222insVal, NP_001339691.1:p.Ala221_Ala222insGly, NP_001339691.1:p.Ala221_Ala222insAsp, NP_001339693.1:p.Ala435_Ala436insVal, NP_001339693.1:p.Ala435_Ala436insGly, NP_001339693.1:p.Ala435_Ala436insAsp, NP_001339692.1:p.Ala391_Ala392insVal, NP_001339692.1:p.Ala391_Ala392insGly, NP_001339692.1:p.Ala391_Ala392insAsp, NP_001339694.1:p.Ala375_Ala376insVal, NP_001339694.1:p.Ala375_Ala376insGly, NP_001339694.1:p.Ala375_Ala376insAsp, NP_001070819.1:p.Ala391_Ala392insVal, NP_001070819.1:p.Ala391_Ala392insGly, NP_001070819.1:p.Ala391_Ala392insAsp, NP_001070820.1:p.Ala357_Ala358insVal, NP_001070820.1:p.Ala357_Ala358insGly, NP_001070820.1:p.Ala357_Ala358insAsp, XP_011535204.1:p.Ala221_Ala222insVal, XP_011535204.1:p.Ala221_Ala222insGly, XP_011535204.1:p.Ala221_Ala222insAsp, NP_001294973.1:p.Ala221_Ala222insVal, NP_001294973.1:p.Ala221_Ala222insGly, NP_001294973.1:p.Ala221_Ala222insAsp, XP_011535205.1:p.Ala221_Ala222insVal, XP_011535205.1:p.Ala221_Ala222insGly, XP_011535205.1:p.Ala221_Ala222insAsp, XP_011535208.1:p.Ala221_Ala222insVal, XP_011535208.1:p.Ala221_Ala222insGly, XP_011535208.1:p.Ala221_Ala222insAsp, XP_047287477.1:p.Ala221_Ala222insVal, XP_047287477.1:p.Ala221_Ala222insGly, XP_047287477.1:p.Ala221_Ala222insAsp

                            14.

                            rs1443343966 has merged into rs376457710 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CAGCAGCAG>-,CAG,CAGCAG,CAGCAGCAGCAG,CAGCAGCAGCAGCAG [Show Flanks]
                              Chromosome:
                              14:22902067 (GRCh38)
                              14:23371276 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAG,NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAG,NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG,NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG,NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAG
                              Gene:
                              RBM23 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,inframe_insertion
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GCAGCAGCAGCAGCAGCAGCAGCAG=0./0 (ALFA)
                              GCA=0.01038/174 (TOMMO)
                              GCA=0.01878/84 (Estonian)
                              GCA=0.02167/13 (NorthernSweden)
                              GCA=0.025/1 (GENOME_DK)
                              HGVS:
                              NC_000014.9:g.22902058CAG[3], NC_000014.9:g.22902058CAG[4], NC_000014.9:g.22902058CAG[5], NC_000014.9:g.22902058CAG[7], NC_000014.9:g.22902058CAG[8], NC_000014.8:g.23371267CAG[3], NC_000014.8:g.23371267CAG[4], NC_000014.8:g.23371267CAG[5], NC_000014.8:g.23371267CAG[7], NC_000014.8:g.23371267CAG[8], NM_018107.5:c.1104TGC[3], NM_018107.5:c.1104TGC[4], NM_018107.5:c.1104TGC[5], NM_018107.5:c.1104TGC[7], NM_018107.5:c.1104TGC[8], NM_018107.4:c.1104TGC[3], NM_018107.4:c.1104TGC[4], NM_018107.4:c.1104TGC[5], NM_018107.4:c.1104TGC[7], NM_018107.4:c.1104TGC[8], XM_011536895.4:c.1182TGC[3], XM_011536895.4:c.1182TGC[4], XM_011536895.4:c.1182TGC[5], XM_011536895.4:c.1182TGC[7], XM_011536895.4:c.1182TGC[8], XM_011536895.3:c.1182TGC[3], XM_011536895.3:c.1182TGC[4], XM_011536895.3:c.1182TGC[5], XM_011536895.3:c.1182TGC[7], XM_011536895.3:c.1182TGC[8], XM_011536895.2:c.1182TGC[3], XM_011536895.2:c.1182TGC[4], XM_011536895.2:c.1182TGC[5], XM_011536895.2:c.1182TGC[7], XM_011536895.2:c.1182TGC[8], XM_011536895.1:c.1182TGC[3], XM_011536895.1:c.1182TGC[4], XM_011536895.1:c.1182TGC[5], XM_011536895.1:c.1182TGC[7], XM_011536895.1:c.1182TGC[8], XM_011536893.4:c.1236TGC[3], XM_011536893.4:c.1236TGC[4], XM_011536893.4:c.1236TGC[5], XM_011536893.4:c.1236TGC[7], XM_011536893.4:c.1236TGC[8], XM_011536893.3:c.1236TGC[3], XM_011536893.3:c.1236TGC[4], XM_011536893.3:c.1236TGC[5], XM_011536893.3:c.1236TGC[7], XM_011536893.3:c.1236TGC[8], XM_011536893.2:c.1236TGC[3], XM_011536893.2:c.1236TGC[4], XM_011536893.2:c.1236TGC[5], XM_011536893.2:c.1236TGC[7], XM_011536893.2:c.1236TGC[8], XM_011536893.1:c.1236TGC[3], XM_011536893.1:c.1236TGC[4], XM_011536893.1:c.1236TGC[5], XM_011536893.1:c.1236TGC[7], XM_011536893.1:c.1236TGC[8], XM_011536897.3:c.1158TGC[3], XM_011536897.3:c.1158TGC[4], XM_011536897.3:c.1158TGC[5], XM_011536897.3:c.1158TGC[7], XM_011536897.3:c.1158TGC[8], XM_011536897.2:c.1158TGC[3], XM_011536897.2:c.1158TGC[4], XM_011536897.2:c.1158TGC[5], XM_011536897.2:c.1158TGC[7], XM_011536897.2:c.1158TGC[8], XM_011536897.1:c.1158TGC[3], XM_011536897.1:c.1158TGC[4], XM_011536897.1:c.1158TGC[5], XM_011536897.1:c.1158TGC[7], XM_011536897.1:c.1158TGC[8], XM_011536892.3:c.1236TGC[3], XM_011536892.3:c.1236TGC[4], XM_011536892.3:c.1236TGC[5], XM_011536892.3:c.1236TGC[7], XM_011536892.3:c.1236TGC[8], XM_011536892.2:c.1236TGC[3], XM_011536892.2:c.1236TGC[4], XM_011536892.2:c.1236TGC[5], XM_011536892.2:c.1236TGC[7], XM_011536892.2:c.1236TGC[8], XM_011536892.1:c.1236TGC[3], XM_011536892.1:c.1236TGC[4], XM_011536892.1:c.1236TGC[5], XM_011536892.1:c.1236TGC[7], XM_011536892.1:c.1236TGC[8], XM_011536894.3:c.1230TGC[3], XM_011536894.3:c.1230TGC[4], XM_011536894.3:c.1230TGC[5], XM_011536894.3:c.1230TGC[7], XM_011536894.3:c.1230TGC[8], XM_011536894.2:c.1230TGC[3], XM_011536894.2:c.1230TGC[4], XM_011536894.2:c.1230TGC[5], XM_011536894.2:c.1230TGC[7], XM_011536894.2:c.1230TGC[8], XM_011536894.1:c.1230TGC[3], XM_011536894.1:c.1230TGC[4], XM_011536894.1:c.1230TGC[5], XM_011536894.1:c.1230TGC[7], XM_011536894.1:c.1230TGC[8], XM_011536896.3:c.1182TGC[3], XM_011536896.3:c.1182TGC[4], XM_011536896.3:c.1182TGC[5], XM_011536896.3:c.1182TGC[7], XM_011536896.3:c.1182TGC[8], XM_011536896.2:c.1182TGC[3], XM_011536896.2:c.1182TGC[4], XM_011536896.2:c.1182TGC[5], XM_011536896.2:c.1182TGC[7], XM_011536896.2:c.1182TGC[8], XM_011536896.1:c.1182TGC[3], XM_011536896.1:c.1182TGC[4], XM_011536896.1:c.1182TGC[5], XM_011536896.1:c.1182TGC[7], XM_011536896.1:c.1182TGC[8], NM_001352766.2:c.1152TGC[3], NM_001352766.2:c.1152TGC[4], NM_001352766.2:c.1152TGC[5], NM_001352766.2:c.1152TGC[7], NM_001352766.2:c.1152TGC[8], NM_001352766.1:c.1152TGC[3], NM_001352766.1:c.1152TGC[4], NM_001352766.1:c.1152TGC[5], NM_001352766.1:c.1152TGC[7], NM_001352766.1:c.1152TGC[8], NM_001352762.2:c.642TGC[3], NM_001352762.2:c.642TGC[4], NM_001352762.2:c.642TGC[5], NM_001352762.2:c.642TGC[7], NM_001352762.2:c.642TGC[8], NM_001352762.1:c.642TGC[3], NM_001352762.1:c.642TGC[4], NM_001352762.1:c.642TGC[5], NM_001352762.1:c.642TGC[7], NM_001352762.1:c.642TGC[8], NM_001352764.2:c.1284TGC[3], NM_001352764.2:c.1284TGC[4], NM_001352764.2:c.1284TGC[5], NM_001352764.2:c.1284TGC[7], NM_001352764.2:c.1284TGC[8], NM_001352764.1:c.1284TGC[3], NM_001352764.1:c.1284TGC[4], NM_001352764.1:c.1284TGC[5], NM_001352764.1:c.1284TGC[7], NM_001352764.1:c.1284TGC[8], NM_001352763.2:c.1152TGC[3], NM_001352763.2:c.1152TGC[4], NM_001352763.2:c.1152TGC[5], NM_001352763.2:c.1152TGC[7], NM_001352763.2:c.1152TGC[8], NM_001352763.1:c.1152TGC[3], NM_001352763.1:c.1152TGC[4], NM_001352763.1:c.1152TGC[5], NM_001352763.1:c.1152TGC[7], NM_001352763.1:c.1152TGC[8], NM_001352765.2:c.1104TGC[3], NM_001352765.2:c.1104TGC[4], NM_001352765.2:c.1104TGC[5], NM_001352765.2:c.1104TGC[7], NM_001352765.2:c.1104TGC[8], NM_001352765.1:c.1104TGC[3], NM_001352765.1:c.1104TGC[4], NM_001352765.1:c.1104TGC[5], NM_001352765.1:c.1104TGC[7], NM_001352765.1:c.1104TGC[8], NM_001077351.2:c.1152TGC[3], NM_001077351.2:c.1152TGC[4], NM_001077351.2:c.1152TGC[5], NM_001077351.2:c.1152TGC[7], NM_001077351.2:c.1152TGC[8], NM_001077351.1:c.1152TGC[3], NM_001077351.1:c.1152TGC[4], NM_001077351.1:c.1152TGC[5], NM_001077351.1:c.1152TGC[7], NM_001077351.1:c.1152TGC[8], NM_001077352.2:c.1050TGC[3], NM_001077352.2:c.1050TGC[4], NM_001077352.2:c.1050TGC[5], NM_001077352.2:c.1050TGC[7], NM_001077352.2:c.1050TGC[8], NM_001077352.1:c.1050TGC[3], NM_001077352.1:c.1050TGC[4], NM_001077352.1:c.1050TGC[5], NM_001077352.1:c.1050TGC[7], NM_001077352.1:c.1050TGC[8], XM_011536902.2:c.642TGC[3], XM_011536902.2:c.642TGC[4], XM_011536902.2:c.642TGC[5], XM_011536902.2:c.642TGC[7], XM_011536902.2:c.642TGC[8], XM_011536902.1:c.642TGC[3], XM_011536902.1:c.642TGC[4], XM_011536902.1:c.642TGC[5], XM_011536902.1:c.642TGC[7], XM_011536902.1:c.642TGC[8], NM_001308044.2:c.642TGC[3], NM_001308044.2:c.642TGC[4], NM_001308044.2:c.642TGC[5], NM_001308044.2:c.642TGC[7], NM_001308044.2:c.642TGC[8], NM_001308044.1:c.642TGC[3], NM_001308044.1:c.642TGC[4], NM_001308044.1:c.642TGC[5], NM_001308044.1:c.642TGC[7], NM_001308044.1:c.642TGC[8], XM_011536903.2:c.642TGC[3], XM_011536903.2:c.642TGC[4], XM_011536903.2:c.642TGC[5], XM_011536903.2:c.642TGC[7], XM_011536903.2:c.642TGC[8], XM_011536903.1:c.642TGC[3], XM_011536903.1:c.642TGC[4], XM_011536903.1:c.642TGC[5], XM_011536903.1:c.642TGC[7], XM_011536903.1:c.642TGC[8], XM_011536906.2:c.642TGC[3], XM_011536906.2:c.642TGC[4], XM_011536906.2:c.642TGC[5], XM_011536906.2:c.642TGC[7], XM_011536906.2:c.642TGC[8], XM_011536906.1:c.642TGC[3], XM_011536906.1:c.642TGC[4], XM_011536906.1:c.642TGC[5], XM_011536906.1:c.642TGC[7], XM_011536906.1:c.642TGC[8], XM_047431521.1:c.642TGC[3], XM_047431521.1:c.642TGC[4], XM_047431521.1:c.642TGC[5], XM_047431521.1:c.642TGC[7], XM_047431521.1:c.642TGC[8], NP_060577.3:p.Ala375_Ala377del, NP_060577.3:p.Ala376_Ala377del, NP_060577.3:p.Ala377del, NP_060577.3:p.Ala377dup, NP_060577.3:p.Ala376_Ala377dup, XP_011535197.1:p.Ala401_Ala403del, XP_011535197.1:p.Ala402_Ala403del, XP_011535197.1:p.Ala403del, XP_011535197.1:p.Ala403dup, XP_011535197.1:p.Ala402_Ala403dup, XP_011535195.1:p.Ala419_Ala421del, XP_011535195.1:p.Ala420_Ala421del, XP_011535195.1:p.Ala421del, XP_011535195.1:p.Ala421dup, XP_011535195.1:p.Ala420_Ala421dup, XP_011535199.1:p.Ala393_Ala395del, XP_011535199.1:p.Ala394_Ala395del, XP_011535199.1:p.Ala395del, XP_011535199.1:p.Ala395dup, XP_011535199.1:p.Ala394_Ala395dup, XP_011535194.1:p.Ala419_Ala421del, XP_011535194.1:p.Ala420_Ala421del, XP_011535194.1:p.Ala421del, XP_011535194.1:p.Ala421dup, XP_011535194.1:p.Ala420_Ala421dup, XP_011535196.1:p.Ala417_Ala419del, XP_011535196.1:p.Ala418_Ala419del, XP_011535196.1:p.Ala419del, XP_011535196.1:p.Ala419dup, XP_011535196.1:p.Ala418_Ala419dup, XP_011535198.1:p.Ala401_Ala403del, XP_011535198.1:p.Ala402_Ala403del, XP_011535198.1:p.Ala403del, XP_011535198.1:p.Ala403dup, XP_011535198.1:p.Ala402_Ala403dup, NP_001339695.1:p.Ala391_Ala393del, NP_001339695.1:p.Ala392_Ala393del, NP_001339695.1:p.Ala393del, NP_001339695.1:p.Ala393dup, NP_001339695.1:p.Ala392_Ala393dup, NP_001339691.1:p.Ala221_Ala223del, NP_001339691.1:p.Ala222_Ala223del, NP_001339691.1:p.Ala223del, NP_001339691.1:p.Ala223dup, NP_001339691.1:p.Ala222_Ala223dup, NP_001339693.1:p.Ala435_Ala437del, NP_001339693.1:p.Ala436_Ala437del, NP_001339693.1:p.Ala437del, NP_001339693.1:p.Ala437dup, NP_001339693.1:p.Ala436_Ala437dup, NP_001339692.1:p.Ala391_Ala393del, NP_001339692.1:p.Ala392_Ala393del, NP_001339692.1:p.Ala393del, NP_001339692.1:p.Ala393dup, NP_001339692.1:p.Ala392_Ala393dup, NP_001339694.1:p.Ala375_Ala377del, NP_001339694.1:p.Ala376_Ala377del, NP_001339694.1:p.Ala377del, NP_001339694.1:p.Ala377dup, NP_001339694.1:p.Ala376_Ala377dup, NP_001070819.1:p.Ala391_Ala393del, NP_001070819.1:p.Ala392_Ala393del, NP_001070819.1:p.Ala393del, NP_001070819.1:p.Ala393dup, NP_001070819.1:p.Ala392_Ala393dup, NP_001070820.1:p.Ala357_Ala359del, NP_001070820.1:p.Ala358_Ala359del, NP_001070820.1:p.Ala359del, NP_001070820.1:p.Ala359dup, NP_001070820.1:p.Ala358_Ala359dup, XP_011535204.1:p.Ala221_Ala223del, XP_011535204.1:p.Ala222_Ala223del, XP_011535204.1:p.Ala223del, XP_011535204.1:p.Ala223dup, XP_011535204.1:p.Ala222_Ala223dup, NP_001294973.1:p.Ala221_Ala223del, NP_001294973.1:p.Ala222_Ala223del, NP_001294973.1:p.Ala223del, NP_001294973.1:p.Ala223dup, NP_001294973.1:p.Ala222_Ala223dup, XP_011535205.1:p.Ala221_Ala223del, XP_011535205.1:p.Ala222_Ala223del, XP_011535205.1:p.Ala223del, XP_011535205.1:p.Ala223dup, XP_011535205.1:p.Ala222_Ala223dup, XP_011535208.1:p.Ala221_Ala223del, XP_011535208.1:p.Ala222_Ala223del, XP_011535208.1:p.Ala223del, XP_011535208.1:p.Ala223dup, XP_011535208.1:p.Ala222_Ala223dup, XP_047287477.1:p.Ala221_Ala223del, XP_047287477.1:p.Ala222_Ala223del, XP_047287477.1:p.Ala223del, XP_047287477.1:p.Ala223dup, XP_047287477.1:p.Ala222_Ala223dup

                              15.

                              rs1441634318 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                14:22904322 (GRCh38)
                                14:23373531 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:22904321:T:C
                                Gene:
                                RBM23 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.22904322T>C, NC_000014.8:g.23373531T>C, NM_018107.5:c.821A>G, NM_018107.4:c.821A>G, XM_011536895.4:c.899A>G, XM_011536895.3:c.899A>G, XM_011536895.2:c.899A>G, XM_011536895.1:c.899A>G, XM_011536893.4:c.953A>G, XM_011536893.3:c.953A>G, XM_011536893.2:c.953A>G, XM_011536893.1:c.953A>G, XM_011536897.3:c.875A>G, XM_011536897.2:c.875A>G, XM_011536897.1:c.875A>G, XM_011536892.3:c.953A>G, XM_011536892.2:c.953A>G, XM_011536892.1:c.953A>G, XM_011536894.3:c.947A>G, XM_011536894.2:c.947A>G, XM_011536894.1:c.947A>G, XM_011536896.3:c.899A>G, XM_011536896.2:c.899A>G, XM_011536896.1:c.899A>G, NM_001352766.2:c.869A>G, NM_001352766.1:c.869A>G, NM_001352762.2:c.359A>G, NM_001352762.1:c.359A>G, NM_001352764.2:c.1001A>G, NM_001352764.1:c.1001A>G, NM_001352763.2:c.869A>G, NM_001352763.1:c.869A>G, NM_001352765.2:c.821A>G, NM_001352765.1:c.821A>G, NM_001077351.2:c.869A>G, NM_001077351.1:c.869A>G, NM_001077352.2:c.767A>G, NM_001077352.1:c.767A>G, XM_011536902.2:c.359A>G, XM_011536902.1:c.359A>G, NM_001308044.2:c.359A>G, NM_001308044.1:c.359A>G, XM_011536903.2:c.359A>G, XM_011536903.1:c.359A>G, XM_011536906.2:c.359A>G, XM_011536906.1:c.359A>G, XM_024449644.2:c.1001A>G, XM_024449644.1:c.1001A>G, XM_047431521.1:c.359A>G, NP_060577.3:p.Asp274Gly, XP_011535197.1:p.Asp300Gly, XP_011535195.1:p.Asp318Gly, XP_011535199.1:p.Asp292Gly, XP_011535194.1:p.Asp318Gly, XP_011535196.1:p.Asp316Gly, XP_011535198.1:p.Asp300Gly, NP_001339695.1:p.Asp290Gly, NP_001339691.1:p.Asp120Gly, NP_001339693.1:p.Asp334Gly, NP_001339692.1:p.Asp290Gly, NP_001339694.1:p.Asp274Gly, NP_001070819.1:p.Asp290Gly, NP_001070820.1:p.Asp256Gly, XP_011535204.1:p.Asp120Gly, NP_001294973.1:p.Asp120Gly, XP_011535205.1:p.Asp120Gly, XP_011535208.1:p.Asp120Gly, XP_024305412.1:p.Asp334Gly, XP_047287477.1:p.Asp120Gly

                                16.

                                rs1434365085 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  14:22905104 (GRCh38)
                                  14:23374313 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:22905103:T:G
                                  Gene:
                                  RBM23 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.22905104T>G, NC_000014.8:g.23374313T>G, NM_018107.5:c.668A>C, NM_018107.4:c.668A>C, XM_011536895.4:c.746A>C, XM_011536895.3:c.746A>C, XM_011536895.2:c.746A>C, XM_011536895.1:c.746A>C, XM_011536893.4:c.800A>C, XM_011536893.3:c.800A>C, XM_011536893.2:c.800A>C, XM_011536893.1:c.800A>C, XM_011536897.3:c.722A>C, XM_011536897.2:c.722A>C, XM_011536897.1:c.722A>C, XM_011536892.3:c.800A>C, XM_011536892.2:c.800A>C, XM_011536892.1:c.800A>C, XM_011536894.3:c.794A>C, XM_011536894.2:c.794A>C, XM_011536894.1:c.794A>C, XM_011536896.3:c.746A>C, XM_011536896.2:c.746A>C, XM_011536896.1:c.746A>C, NM_001352766.2:c.716A>C, NM_001352766.1:c.716A>C, NM_001352762.2:c.206A>C, NM_001352762.1:c.206A>C, NM_001352764.2:c.848A>C, NM_001352764.1:c.848A>C, NM_001352763.2:c.716A>C, NM_001352763.1:c.716A>C, NM_001352765.2:c.668A>C, NM_001352765.1:c.668A>C, NM_001077351.2:c.716A>C, NM_001077351.1:c.716A>C, NM_001077352.2:c.614A>C, NM_001077352.1:c.614A>C, XM_011536902.2:c.206A>C, XM_011536902.1:c.206A>C, NM_001308044.2:c.206A>C, NM_001308044.1:c.206A>C, XM_011536903.2:c.206A>C, XM_011536903.1:c.206A>C, XM_011536906.2:c.206A>C, XM_011536906.1:c.206A>C, XM_024449644.2:c.848A>C, XM_024449644.1:c.848A>C, XM_047431521.1:c.206A>C, NP_060577.3:p.Gln223Pro, XP_011535197.1:p.Gln249Pro, XP_011535195.1:p.Gln267Pro, XP_011535199.1:p.Gln241Pro, XP_011535194.1:p.Gln267Pro, XP_011535196.1:p.Gln265Pro, XP_011535198.1:p.Gln249Pro, NP_001339695.1:p.Gln239Pro, NP_001339691.1:p.Gln69Pro, NP_001339693.1:p.Gln283Pro, NP_001339692.1:p.Gln239Pro, NP_001339694.1:p.Gln223Pro, NP_001070819.1:p.Gln239Pro, NP_001070820.1:p.Gln205Pro, XP_011535204.1:p.Gln69Pro, NP_001294973.1:p.Gln69Pro, XP_011535205.1:p.Gln69Pro, XP_011535208.1:p.Gln69Pro, XP_024305412.1:p.Gln283Pro, XP_047287477.1:p.Gln69Pro

                                  17.

                                  rs1433973240 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:22902259 (GRCh38)
                                    14:23371468 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:22902258:G:A
                                    Gene:
                                    RBM23 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.22902259G>A, NC_000014.8:g.23371468G>A, NM_018107.5:c.1006C>T, NM_018107.4:c.1006C>T, XM_011536895.4:c.1084C>T, XM_011536895.3:c.1084C>T, XM_011536895.2:c.1084C>T, XM_011536895.1:c.1084C>T, XM_011536893.4:c.1138C>T, XM_011536893.3:c.1138C>T, XM_011536893.2:c.1138C>T, XM_011536893.1:c.1138C>T, XM_011536897.3:c.1060C>T, XM_011536897.2:c.1060C>T, XM_011536897.1:c.1060C>T, XM_011536892.3:c.1138C>T, XM_011536892.2:c.1138C>T, XM_011536892.1:c.1138C>T, XM_011536894.3:c.1132C>T, XM_011536894.2:c.1132C>T, XM_011536894.1:c.1132C>T, XM_011536896.3:c.1084C>T, XM_011536896.2:c.1084C>T, XM_011536896.1:c.1084C>T, NM_001352766.2:c.1054C>T, NM_001352766.1:c.1054C>T, NM_001352762.2:c.544C>T, NM_001352762.1:c.544C>T, NM_001352764.2:c.1186C>T, NM_001352764.1:c.1186C>T, NM_001352763.2:c.1054C>T, NM_001352763.1:c.1054C>T, NM_001352765.2:c.1006C>T, NM_001352765.1:c.1006C>T, NM_001077351.2:c.1054C>T, NM_001077351.1:c.1054C>T, NM_001077352.2:c.952C>T, NM_001077352.1:c.952C>T, XM_011536902.2:c.544C>T, XM_011536902.1:c.544C>T, NM_001308044.2:c.544C>T, NM_001308044.1:c.544C>T, XM_011536903.2:c.544C>T, XM_011536903.1:c.544C>T, XM_011536906.2:c.544C>T, XM_011536906.1:c.544C>T, XM_047431521.1:c.544C>T, NP_060577.3:p.Pro336Ser, XP_011535197.1:p.Pro362Ser, XP_011535195.1:p.Pro380Ser, XP_011535199.1:p.Pro354Ser, XP_011535194.1:p.Pro380Ser, XP_011535196.1:p.Pro378Ser, XP_011535198.1:p.Pro362Ser, NP_001339695.1:p.Pro352Ser, NP_001339691.1:p.Pro182Ser, NP_001339693.1:p.Pro396Ser, NP_001339692.1:p.Pro352Ser, NP_001339694.1:p.Pro336Ser, NP_001070819.1:p.Pro352Ser, NP_001070820.1:p.Pro318Ser, XP_011535204.1:p.Pro182Ser, NP_001294973.1:p.Pro182Ser, XP_011535205.1:p.Pro182Ser, XP_011535208.1:p.Pro182Ser, XP_047287477.1:p.Pro182Ser

                                    18.

                                    rs1433636117 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      14:22902215 (GRCh38)
                                      14:23371424 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:22902214:A:G
                                      Gene:
                                      RBM23 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.22902215A>G, NC_000014.8:g.23371424A>G, NM_018107.5:c.1050T>C, NM_018107.4:c.1050T>C, XM_011536895.4:c.1128T>C, XM_011536895.3:c.1128T>C, XM_011536895.2:c.1128T>C, XM_011536895.1:c.1128T>C, XM_011536893.4:c.1182T>C, XM_011536893.3:c.1182T>C, XM_011536893.2:c.1182T>C, XM_011536893.1:c.1182T>C, XM_011536897.3:c.1104T>C, XM_011536897.2:c.1104T>C, XM_011536897.1:c.1104T>C, XM_011536892.3:c.1182T>C, XM_011536892.2:c.1182T>C, XM_011536892.1:c.1182T>C, XM_011536894.3:c.1176T>C, XM_011536894.2:c.1176T>C, XM_011536894.1:c.1176T>C, XM_011536896.3:c.1128T>C, XM_011536896.2:c.1128T>C, XM_011536896.1:c.1128T>C, NM_001352766.2:c.1098T>C, NM_001352766.1:c.1098T>C, NM_001352762.2:c.588T>C, NM_001352762.1:c.588T>C, NM_001352764.2:c.1230T>C, NM_001352764.1:c.1230T>C, NM_001352763.2:c.1098T>C, NM_001352763.1:c.1098T>C, NM_001352765.2:c.1050T>C, NM_001352765.1:c.1050T>C, NM_001077351.2:c.1098T>C, NM_001077351.1:c.1098T>C, NM_001077352.2:c.996T>C, NM_001077352.1:c.996T>C, XM_011536902.2:c.588T>C, XM_011536902.1:c.588T>C, NM_001308044.2:c.588T>C, NM_001308044.1:c.588T>C, XM_011536903.2:c.588T>C, XM_011536903.1:c.588T>C, XM_011536906.2:c.588T>C, XM_011536906.1:c.588T>C, XM_047431521.1:c.588T>C

                                      19.

                                      rs1432135378 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        14:22904298 (GRCh38)
                                        14:23373507 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:22904297:G:A
                                        Gene:
                                        RBM23 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000014.9:g.22904298G>A, NC_000014.8:g.23373507G>A, NM_018107.5:c.845C>T, NM_018107.4:c.845C>T, XM_011536895.4:c.923C>T, XM_011536895.3:c.923C>T, XM_011536895.2:c.923C>T, XM_011536895.1:c.923C>T, XM_011536893.4:c.977C>T, XM_011536893.3:c.977C>T, XM_011536893.2:c.977C>T, XM_011536893.1:c.977C>T, XM_011536897.3:c.899C>T, XM_011536897.2:c.899C>T, XM_011536897.1:c.899C>T, XM_011536892.3:c.977C>T, XM_011536892.2:c.977C>T, XM_011536892.1:c.977C>T, XM_011536894.3:c.971C>T, XM_011536894.2:c.971C>T, XM_011536894.1:c.971C>T, XM_011536896.3:c.923C>T, XM_011536896.2:c.923C>T, XM_011536896.1:c.923C>T, NM_001352766.2:c.893C>T, NM_001352766.1:c.893C>T, NM_001352762.2:c.383C>T, NM_001352762.1:c.383C>T, NM_001352764.2:c.1025C>T, NM_001352764.1:c.1025C>T, NM_001352763.2:c.893C>T, NM_001352763.1:c.893C>T, NM_001352765.2:c.845C>T, NM_001352765.1:c.845C>T, NM_001077351.2:c.893C>T, NM_001077351.1:c.893C>T, NM_001077352.2:c.791C>T, NM_001077352.1:c.791C>T, XM_011536902.2:c.383C>T, XM_011536902.1:c.383C>T, NM_001308044.2:c.383C>T, NM_001308044.1:c.383C>T, XM_011536903.2:c.383C>T, XM_011536903.1:c.383C>T, XM_011536906.2:c.383C>T, XM_011536906.1:c.383C>T, XM_024449644.2:c.1025C>T, XM_024449644.1:c.1025C>T, XM_047431521.1:c.383C>T, NP_060577.3:p.Ser282Leu, XP_011535197.1:p.Ser308Leu, XP_011535195.1:p.Ser326Leu, XP_011535199.1:p.Ser300Leu, XP_011535194.1:p.Ser326Leu, XP_011535196.1:p.Ser324Leu, XP_011535198.1:p.Ser308Leu, NP_001339695.1:p.Ser298Leu, NP_001339691.1:p.Ser128Leu, NP_001339693.1:p.Ser342Leu, NP_001339692.1:p.Ser298Leu, NP_001339694.1:p.Ser282Leu, NP_001070819.1:p.Ser298Leu, NP_001070820.1:p.Ser264Leu, XP_011535204.1:p.Ser128Leu, NP_001294973.1:p.Ser128Leu, XP_011535205.1:p.Ser128Leu, XP_011535208.1:p.Ser128Leu, XP_024305412.1:p.Ser342Leu, XP_047287477.1:p.Ser128Leu

                                        20.

                                        rs1423165841 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:22902198 (GRCh38)
                                          14:23371407 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:22902197:T:C
                                          Gene:
                                          RBM23 (Varview)
                                          Functional Consequence:
                                          missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.22902198T>C, NC_000014.8:g.23371407T>C, NM_018107.5:c.1067A>G, NM_018107.4:c.1067A>G, XM_011536895.4:c.1145A>G, XM_011536895.3:c.1145A>G, XM_011536895.2:c.1145A>G, XM_011536895.1:c.1145A>G, XM_011536893.4:c.1199A>G, XM_011536893.3:c.1199A>G, XM_011536893.2:c.1199A>G, XM_011536893.1:c.1199A>G, XM_011536897.3:c.1121A>G, XM_011536897.2:c.1121A>G, XM_011536897.1:c.1121A>G, XM_011536892.3:c.1199A>G, XM_011536892.2:c.1199A>G, XM_011536892.1:c.1199A>G, XM_011536894.3:c.1193A>G, XM_011536894.2:c.1193A>G, XM_011536894.1:c.1193A>G, XM_011536896.3:c.1145A>G, XM_011536896.2:c.1145A>G, XM_011536896.1:c.1145A>G, NM_001352766.2:c.1115A>G, NM_001352766.1:c.1115A>G, NM_001352762.2:c.605A>G, NM_001352762.1:c.605A>G, NM_001352764.2:c.1247A>G, NM_001352764.1:c.1247A>G, NM_001352763.2:c.1115A>G, NM_001352763.1:c.1115A>G, NM_001352765.2:c.1067A>G, NM_001352765.1:c.1067A>G, NM_001077351.2:c.1115A>G, NM_001077351.1:c.1115A>G, NM_001077352.2:c.1013A>G, NM_001077352.1:c.1013A>G, XM_011536902.2:c.605A>G, XM_011536902.1:c.605A>G, NM_001308044.2:c.605A>G, NM_001308044.1:c.605A>G, XM_011536903.2:c.605A>G, XM_011536903.1:c.605A>G, XM_011536906.2:c.605A>G, XM_011536906.1:c.605A>G, XM_047431521.1:c.605A>G, NP_060577.3:p.Lys356Arg, XP_011535197.1:p.Lys382Arg, XP_011535195.1:p.Lys400Arg, XP_011535199.1:p.Lys374Arg, XP_011535194.1:p.Lys400Arg, XP_011535196.1:p.Lys398Arg, XP_011535198.1:p.Lys382Arg, NP_001339695.1:p.Lys372Arg, NP_001339691.1:p.Lys202Arg, NP_001339693.1:p.Lys416Arg, NP_001339692.1:p.Lys372Arg, NP_001339694.1:p.Lys356Arg, NP_001070819.1:p.Lys372Arg, NP_001070820.1:p.Lys338Arg, XP_011535204.1:p.Lys202Arg, NP_001294973.1:p.Lys202Arg, XP_011535205.1:p.Lys202Arg, XP_011535208.1:p.Lys202Arg, XP_047287477.1:p.Lys202Arg

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