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Items: 1 to 20 of 153

1.

rs1483264369 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    20:35725079 (GRCh38)
    20:34313001 (GRCh37)
    Canonical SPDI:
    NC_000020.11:35725078:G:A
    Gene:
    RBM39 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000020.11:g.35725079G>A, NC_000020.10:g.34313001G>A, NG_029955.1:g.22258C>T, NM_004902.3:c.493C>T, NM_004902.4:c.493C>T, NM_184234.2:c.493C>T, NM_184234.3:c.493C>T, NM_001323423.1:c.22C>T, NM_001323423.2:c.22C>T, NR_040722.1:n.975C>T, NR_040722.2:n.899C>T, NR_040723.1:n.974C>T, NR_040723.2:n.898C>T, NR_040724.1:n.975C>T, NR_040724.2:n.899C>T, NM_001323424.1:c.490C>T, NM_001323424.2:c.490C>T, NM_001242599.1:c.427C>T, NM_001242599.2:c.427C>T, NM_001242600.1:c.427C>T, NM_001242600.2:c.427C>T, NM_001323422.1:c.493C>T, NM_001323422.2:c.493C>T, XM_006723891.5:c.22C>T, XM_006723891.4:c.22C>T, XM_006723891.3:c.22C>T, XM_006723891.2:c.22C>T, XM_006723891.1:c.22C>T, XM_017028138.3:c.427C>T, XM_017028138.2:c.427C>T, XM_017028138.1:c.427C>T, XM_024452023.2:c.22C>T, XM_024452023.1:c.22C>T, XM_047440605.1:c.22C>T, XM_047440604.1:c.22C>T, NM_001242601.1:c.*443C>T, NM_001242602.1:c.*421C>T, NM_001242603.1:c.*443C>T, NM_184244.1:c.22C>T, NM_184237.1:c.22C>T, NM_184241.1:c.22C>T, XM_047440602.1:c.493C>T, XM_047440603.1:c.493C>T, NP_004893.1:p.Arg165Ter, NP_909122.1:p.Arg165Ter, NP_001310352.1:p.Arg8Ter, NP_001310353.1:p.Arg164Ter, NP_001229528.1:p.Arg143Ter, NP_001229529.1:p.Arg143Ter, NP_001310351.1:p.Arg165Ter, XP_006723954.1:p.Arg8Ter, XP_016883627.1:p.Arg143Ter, XP_024307791.1:p.Arg8Ter, XP_047296561.1:p.Arg8Ter, XP_047296560.1:p.Arg8Ter, XP_047296558.1:p.Arg165Ter, XP_047296559.1:p.Arg165Ter

    2.

    rs1475040112 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:35721794 (GRCh38)
      20:34309716 (GRCh37)
      Canonical SPDI:
      NC_000020.11:35721793:T:C
      Gene:
      RBM39 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000111/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.35721794T>C, NC_000020.10:g.34309716T>C, NG_029955.1:g.25543A>G, NM_004902.3:c.771A>G, NM_004902.4:c.771A>G, NM_184234.2:c.771A>G, NM_184234.3:c.771A>G, NM_001323423.1:c.300A>G, NM_001323423.2:c.300A>G, NR_040722.1:n.1253A>G, NR_040722.2:n.1177A>G, NR_040723.1:n.1252A>G, NR_040723.2:n.1176A>G, NR_040724.1:n.1253A>G, NR_040724.2:n.1177A>G, NM_001323424.1:c.768A>G, NM_001323424.2:c.768A>G, NM_001242599.1:c.705A>G, NM_001242599.2:c.705A>G, NM_001242600.1:c.705A>G, NM_001242600.2:c.705A>G, NM_001323422.1:c.771A>G, NM_001323422.2:c.771A>G, XM_006723891.5:c.300A>G, XM_006723891.4:c.300A>G, XM_006723891.3:c.300A>G, XM_006723891.2:c.300A>G, XM_006723891.1:c.300A>G, XM_017028138.3:c.705A>G, XM_017028138.2:c.705A>G, XM_017028138.1:c.705A>G, XM_024452023.2:c.300A>G, XM_024452023.1:c.300A>G, XM_047440605.1:c.300A>G, XM_047440604.1:c.300A>G, NM_001242601.1:c.*721A>G, NM_001242602.1:c.*699A>G, NM_001242603.1:c.*721A>G, NM_184244.1:c.300A>G, NM_184237.1:c.300A>G, NM_184241.1:c.300A>G, XM_047440602.1:c.771A>G, XM_047440603.1:c.771A>G

      3.

      rs1463986687 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        20:35721875 (GRCh38)
        20:34309797 (GRCh37)
        Canonical SPDI:
        NC_000020.11:35721874:T:C
        Gene:
        RBM39 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000020.11:g.35721875T>C, NC_000020.10:g.34309797T>C, NG_029955.1:g.25462A>G, NM_004902.3:c.690A>G, NM_004902.4:c.690A>G, NM_184234.2:c.690A>G, NM_184234.3:c.690A>G, NM_001323423.1:c.219A>G, NM_001323423.2:c.219A>G, NR_040722.1:n.1172A>G, NR_040722.2:n.1096A>G, NR_040723.1:n.1171A>G, NR_040723.2:n.1095A>G, NR_040724.1:n.1172A>G, NR_040724.2:n.1096A>G, NM_001323424.1:c.687A>G, NM_001323424.2:c.687A>G, NM_001242599.1:c.624A>G, NM_001242599.2:c.624A>G, NM_001242600.1:c.624A>G, NM_001242600.2:c.624A>G, NM_001323422.1:c.690A>G, NM_001323422.2:c.690A>G, XM_006723891.5:c.219A>G, XM_006723891.4:c.219A>G, XM_006723891.3:c.219A>G, XM_006723891.2:c.219A>G, XM_006723891.1:c.219A>G, XM_017028138.3:c.624A>G, XM_017028138.2:c.624A>G, XM_017028138.1:c.624A>G, XM_024452023.2:c.219A>G, XM_024452023.1:c.219A>G, XM_047440605.1:c.219A>G, XM_047440604.1:c.219A>G, NM_001242601.1:c.*640A>G, NM_001242602.1:c.*618A>G, NM_001242603.1:c.*640A>G, NM_184244.1:c.219A>G, NM_184237.1:c.219A>G, NM_184241.1:c.219A>G, XM_047440602.1:c.690A>G, XM_047440603.1:c.690A>G

        4.

        rs1461349784 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          20:35724576 (GRCh38)
          20:34312498 (GRCh37)
          Canonical SPDI:
          NC_000020.11:35724575:T:G
          Gene:
          RBM39 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000020.11:g.35724576T>G, NC_000020.10:g.34312498T>G, NG_029955.1:g.22761A>C, NM_004902.3:c.681A>C, NM_004902.4:c.681A>C, NM_184234.2:c.681A>C, NM_184234.3:c.681A>C, NM_001323423.1:c.210A>C, NM_001323423.2:c.210A>C, NR_040722.1:n.1163A>C, NR_040722.2:n.1087A>C, NR_040723.1:n.1162A>C, NR_040723.2:n.1086A>C, NR_040724.1:n.1163A>C, NR_040724.2:n.1087A>C, NM_001323424.1:c.678A>C, NM_001323424.2:c.678A>C, NM_001242599.1:c.615A>C, NM_001242599.2:c.615A>C, NM_001242600.1:c.615A>C, NM_001242600.2:c.615A>C, NM_001323422.1:c.681A>C, NM_001323422.2:c.681A>C, XM_006723891.5:c.210A>C, XM_006723891.4:c.210A>C, XM_006723891.3:c.210A>C, XM_006723891.2:c.210A>C, XM_006723891.1:c.210A>C, XM_017028138.3:c.615A>C, XM_017028138.2:c.615A>C, XM_017028138.1:c.615A>C, XM_024452023.2:c.210A>C, XM_024452023.1:c.210A>C, XM_047440605.1:c.210A>C, XM_047440604.1:c.210A>C, NM_001242601.1:c.*631A>C, NM_001242602.1:c.*609A>C, NM_001242603.1:c.*631A>C, NM_184244.1:c.210A>C, NM_184237.1:c.210A>C, NM_184241.1:c.210A>C, XM_047440602.1:c.681A>C, XM_047440603.1:c.681A>C

          5.

          rs1451894009 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:35725090 (GRCh38)
            20:34313012 (GRCh37)
            Canonical SPDI:
            NC_000020.11:35725089:G:A
            Gene:
            RBM39 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000020.11:g.35725090G>A, NC_000020.10:g.34313012G>A, NG_029955.1:g.22247C>T, NM_004902.3:c.482C>T, NM_004902.4:c.482C>T, NM_184234.2:c.482C>T, NM_184234.3:c.482C>T, NM_001323423.1:c.11C>T, NM_001323423.2:c.11C>T, NR_040722.1:n.964C>T, NR_040722.2:n.888C>T, NR_040723.1:n.963C>T, NR_040723.2:n.887C>T, NR_040724.1:n.964C>T, NR_040724.2:n.888C>T, NM_001323424.1:c.479C>T, NM_001323424.2:c.479C>T, NM_001242599.1:c.416C>T, NM_001242599.2:c.416C>T, NM_001242600.1:c.416C>T, NM_001242600.2:c.416C>T, NM_001323422.1:c.482C>T, NM_001323422.2:c.482C>T, XM_006723891.5:c.11C>T, XM_006723891.4:c.11C>T, XM_006723891.3:c.11C>T, XM_006723891.2:c.11C>T, XM_006723891.1:c.11C>T, XM_017028138.3:c.416C>T, XM_017028138.2:c.416C>T, XM_017028138.1:c.416C>T, XM_024452023.2:c.11C>T, XM_024452023.1:c.11C>T, XM_047440605.1:c.11C>T, XM_047440604.1:c.11C>T, NM_001242601.1:c.*432C>T, NM_001242602.1:c.*410C>T, NM_001242603.1:c.*432C>T, NM_184244.1:c.11C>T, NM_184237.1:c.11C>T, NM_184241.1:c.11C>T, XM_047440602.1:c.482C>T, XM_047440603.1:c.482C>T, NP_004893.1:p.Ala161Val, NP_909122.1:p.Ala161Val, NP_001310352.1:p.Ala4Val, NP_001310353.1:p.Ala160Val, NP_001229528.1:p.Ala139Val, NP_001229529.1:p.Ala139Val, NP_001310351.1:p.Ala161Val, XP_006723954.1:p.Ala4Val, XP_016883627.1:p.Ala139Val, XP_024307791.1:p.Ala4Val, XP_047296561.1:p.Ala4Val, XP_047296560.1:p.Ala4Val, XP_047296558.1:p.Ala161Val, XP_047296559.1:p.Ala161Val

            6.

            rs1447793293 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              20:35724702 (GRCh38)
              20:34312624 (GRCh37)
              Canonical SPDI:
              NC_000020.11:35724701:A:G
              Gene:
              RBM39 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000020.11:g.35724702A>G, NC_000020.10:g.34312624A>G, NG_029955.1:g.22635T>C, NM_004902.3:c.555T>C, NM_004902.4:c.555T>C, NM_184234.2:c.555T>C, NM_184234.3:c.555T>C, NM_001323423.1:c.84T>C, NM_001323423.2:c.84T>C, NR_040722.1:n.1037T>C, NR_040722.2:n.961T>C, NR_040723.1:n.1036T>C, NR_040723.2:n.960T>C, NR_040724.1:n.1037T>C, NR_040724.2:n.961T>C, NM_001323424.1:c.552T>C, NM_001323424.2:c.552T>C, NM_001242599.1:c.489T>C, NM_001242599.2:c.489T>C, NM_001242600.1:c.489T>C, NM_001242600.2:c.489T>C, NM_001323422.1:c.555T>C, NM_001323422.2:c.555T>C, XM_006723891.5:c.84T>C, XM_006723891.4:c.84T>C, XM_006723891.3:c.84T>C, XM_006723891.2:c.84T>C, XM_006723891.1:c.84T>C, XM_017028138.3:c.489T>C, XM_017028138.2:c.489T>C, XM_017028138.1:c.489T>C, XM_024452023.2:c.84T>C, XM_024452023.1:c.84T>C, XM_047440605.1:c.84T>C, XM_047440604.1:c.84T>C, NM_001242601.1:c.*505T>C, NM_001242602.1:c.*483T>C, NM_001242603.1:c.*505T>C, NM_184244.1:c.84T>C, NM_184237.1:c.84T>C, NM_184241.1:c.84T>C, XM_047440602.1:c.555T>C, XM_047440603.1:c.555T>C

              7.

              rs1443100699 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:35705307 (GRCh38)
                20:34293229 (GRCh37)
                Canonical SPDI:
                NC_000020.11:35705306:G:A
                Gene:
                RBM39 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000020.11:g.35705307G>A, NC_000020.10:g.34293229G>A, NG_029955.1:g.42030C>T, NM_004902.3:c.1313C>T, NM_004902.4:c.1313C>T, NM_184234.2:c.1331C>T, NM_184234.3:c.1331C>T, NM_001323423.1:c.860C>T, NM_001323423.2:c.860C>T, NR_040722.1:n.1813C>T, NR_040722.2:n.1737C>T, NR_040723.1:n.1812C>T, NR_040723.2:n.1736C>T, NR_040724.1:n.1795C>T, NR_040724.2:n.1719C>T, NM_001323424.1:c.1328C>T, NM_001323424.2:c.1328C>T, NM_001242599.1:c.1265C>T, NM_001242599.2:c.1265C>T, NM_001242600.1:c.1247C>T, NM_001242600.2:c.1247C>T, NM_001323422.1:c.1235C>T, NM_001323422.2:c.1235C>T, XM_006723891.5:c.860C>T, XM_006723891.4:c.860C>T, XM_006723891.3:c.860C>T, XM_006723891.2:c.860C>T, XM_006723891.1:c.860C>T, XM_017028138.3:c.1169C>T, XM_017028138.2:c.1169C>T, XM_017028138.1:c.1169C>T, XM_024452023.2:c.842C>T, XM_024452023.1:c.842C>T, XM_047440605.1:c.860C>T, XM_047440604.1:c.860C>T, NM_001242601.1:c.*1281C>T, NM_001242602.1:c.*1259C>T, NM_001242603.1:c.*1263C>T, NM_184244.1:c.860C>T, NM_184237.1:c.860C>T, NM_184241.1:c.842C>T, NP_004893.1:p.Thr438Ile, NP_909122.1:p.Thr444Ile, NP_001310352.1:p.Thr287Ile, NP_001310353.1:p.Thr443Ile, NP_001229528.1:p.Thr422Ile, NP_001229529.1:p.Thr416Ile, NP_001310351.1:p.Thr412Ile, XP_006723954.1:p.Thr287Ile, XP_016883627.1:p.Thr390Ile, XP_024307791.1:p.Thr281Ile, XP_047296561.1:p.Thr287Ile, XP_047296560.1:p.Thr287Ile

                8.

                rs1442599919 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  20:35707184 (GRCh38)
                  20:34295106 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:35707183:C:A,NC_000020.11:35707183:C:G,NC_000020.11:35707183:C:T
                  Gene:
                  RBM39 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000546/1 (Korea1K)
                  A=0.000684/2 (KOREAN)
                  G=0.001133/32 (TOMMO)
                  HGVS:
                  NC_000020.11:g.35707184C>A, NC_000020.11:g.35707184C>G, NC_000020.11:g.35707184C>T, NC_000020.10:g.34295106C>A, NC_000020.10:g.34295106C>G, NC_000020.10:g.34295106C>T, NG_029955.1:g.40153G>T, NG_029955.1:g.40153G>C, NG_029955.1:g.40153G>A, NM_004902.3:c.1225G>T, NM_004902.3:c.1225G>C, NM_004902.3:c.1225G>A, NM_004902.4:c.1225G>T, NM_004902.4:c.1225G>C, NM_004902.4:c.1225G>A, NM_184234.2:c.1243G>T, NM_184234.2:c.1243G>C, NM_184234.2:c.1243G>A, NM_184234.3:c.1243G>T, NM_184234.3:c.1243G>C, NM_184234.3:c.1243G>A, NM_001323423.1:c.772G>T, NM_001323423.1:c.772G>C, NM_001323423.1:c.772G>A, NM_001323423.2:c.772G>T, NM_001323423.2:c.772G>C, NM_001323423.2:c.772G>A, NR_040722.1:n.1725G>T, NR_040722.1:n.1725G>C, NR_040722.1:n.1725G>A, NR_040722.2:n.1649G>T, NR_040722.2:n.1649G>C, NR_040722.2:n.1649G>A, NR_040723.1:n.1724G>T, NR_040723.1:n.1724G>C, NR_040723.1:n.1724G>A, NR_040723.2:n.1648G>T, NR_040723.2:n.1648G>C, NR_040723.2:n.1648G>A, NR_040724.1:n.1707G>T, NR_040724.1:n.1707G>C, NR_040724.1:n.1707G>A, NR_040724.2:n.1631G>T, NR_040724.2:n.1631G>C, NR_040724.2:n.1631G>A, NM_001323424.1:c.1240G>T, NM_001323424.1:c.1240G>C, NM_001323424.1:c.1240G>A, NM_001323424.2:c.1240G>T, NM_001323424.2:c.1240G>C, NM_001323424.2:c.1240G>A, NM_001242599.1:c.1177G>T, NM_001242599.1:c.1177G>C, NM_001242599.1:c.1177G>A, NM_001242599.2:c.1177G>T, NM_001242599.2:c.1177G>C, NM_001242599.2:c.1177G>A, NM_001242600.1:c.1159G>T, NM_001242600.1:c.1159G>C, NM_001242600.1:c.1159G>A, NM_001242600.2:c.1159G>T, NM_001242600.2:c.1159G>C, NM_001242600.2:c.1159G>A, NM_001323422.1:c.1147G>T, NM_001323422.1:c.1147G>C, NM_001323422.1:c.1147G>A, NM_001323422.2:c.1147G>T, NM_001323422.2:c.1147G>C, NM_001323422.2:c.1147G>A, XM_006723891.5:c.772G>T, XM_006723891.5:c.772G>C, XM_006723891.5:c.772G>A, XM_006723891.4:c.772G>T, XM_006723891.4:c.772G>C, XM_006723891.4:c.772G>A, XM_006723891.3:c.772G>T, XM_006723891.3:c.772G>C, XM_006723891.3:c.772G>A, XM_006723891.2:c.772G>T, XM_006723891.2:c.772G>C, XM_006723891.2:c.772G>A, XM_006723891.1:c.772G>T, XM_006723891.1:c.772G>C, XM_006723891.1:c.772G>A, XM_017028138.3:c.1081G>T, XM_017028138.3:c.1081G>C, XM_017028138.3:c.1081G>A, XM_017028138.2:c.1081G>T, XM_017028138.2:c.1081G>C, XM_017028138.2:c.1081G>A, XM_017028138.1:c.1081G>T, XM_017028138.1:c.1081G>C, XM_017028138.1:c.1081G>A, XM_024452023.2:c.754G>T, XM_024452023.2:c.754G>C, XM_024452023.2:c.754G>A, XM_024452023.1:c.754G>T, XM_024452023.1:c.754G>C, XM_024452023.1:c.754G>A, XM_047440605.1:c.772G>T, XM_047440605.1:c.772G>C, XM_047440605.1:c.772G>A, XM_047440604.1:c.772G>T, XM_047440604.1:c.772G>C, XM_047440604.1:c.772G>A, NM_001242601.1:c.*1193G>T, NM_001242601.1:c.*1193G>C, NM_001242601.1:c.*1193G>A, NM_001242602.1:c.*1171G>T, NM_001242602.1:c.*1171G>C, NM_001242602.1:c.*1171G>A, NM_001242603.1:c.*1175G>T, NM_001242603.1:c.*1175G>C, NM_001242603.1:c.*1175G>A, NM_184244.1:c.772G>T, NM_184244.1:c.772G>C, NM_184244.1:c.772G>A, NM_184237.1:c.772G>T, NM_184237.1:c.772G>C, NM_184237.1:c.772G>A, NM_184241.1:c.754G>T, NM_184241.1:c.754G>C, NM_184241.1:c.754G>A, NP_004893.1:p.Ala409Ser, NP_004893.1:p.Ala409Pro, NP_004893.1:p.Ala409Thr, NP_909122.1:p.Ala415Ser, NP_909122.1:p.Ala415Pro, NP_909122.1:p.Ala415Thr, NP_001310352.1:p.Ala258Ser, NP_001310352.1:p.Ala258Pro, NP_001310352.1:p.Ala258Thr, NP_001310353.1:p.Ala414Ser, NP_001310353.1:p.Ala414Pro, NP_001310353.1:p.Ala414Thr, NP_001229528.1:p.Ala393Ser, NP_001229528.1:p.Ala393Pro, NP_001229528.1:p.Ala393Thr, NP_001229529.1:p.Ala387Ser, NP_001229529.1:p.Ala387Pro, NP_001229529.1:p.Ala387Thr, NP_001310351.1:p.Ala383Ser, NP_001310351.1:p.Ala383Pro, NP_001310351.1:p.Ala383Thr, XP_006723954.1:p.Ala258Ser, XP_006723954.1:p.Ala258Pro, XP_006723954.1:p.Ala258Thr, XP_016883627.1:p.Ala361Ser, XP_016883627.1:p.Ala361Pro, XP_016883627.1:p.Ala361Thr, XP_024307791.1:p.Ala252Ser, XP_024307791.1:p.Ala252Pro, XP_024307791.1:p.Ala252Thr, XP_047296561.1:p.Ala258Ser, XP_047296561.1:p.Ala258Pro, XP_047296561.1:p.Ala258Thr, XP_047296560.1:p.Ala258Ser, XP_047296560.1:p.Ala258Pro, XP_047296560.1:p.Ala258Thr

                  9.

                  rs1438699709 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:35716741 (GRCh38)
                    20:34304663 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:35716740:G:A
                    Gene:
                    RBM39 (Varview), LOC124904980 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.35716741G>A, NC_000020.10:g.34304663G>A, NG_029955.1:g.30596C>T, NM_004902.3:c.890C>T, NM_004902.4:c.890C>T, NM_184234.2:c.890C>T, NM_184234.3:c.890C>T, NM_001323423.1:c.419C>T, NM_001323423.2:c.419C>T, NR_040722.1:n.1372C>T, NR_040722.2:n.1296C>T, NR_040723.1:n.1371C>T, NR_040723.2:n.1295C>T, NR_040724.1:n.1372C>T, NR_040724.2:n.1296C>T, NM_001323424.1:c.887C>T, NM_001323424.2:c.887C>T, NM_001242599.1:c.824C>T, NM_001242599.2:c.824C>T, NM_001242600.1:c.824C>T, NM_001242600.2:c.824C>T, NM_001323422.1:c.890C>T, NM_001323422.2:c.890C>T, XM_006723891.5:c.419C>T, XM_006723891.4:c.419C>T, XM_006723891.3:c.419C>T, XM_006723891.2:c.419C>T, XM_006723891.1:c.419C>T, XM_017028138.3:c.824C>T, XM_017028138.2:c.824C>T, XM_017028138.1:c.824C>T, XM_024452023.2:c.419C>T, XM_024452023.1:c.419C>T, XM_047440605.1:c.419C>T, XM_047440604.1:c.419C>T, NM_001242601.1:c.*840C>T, NM_001242602.1:c.*818C>T, NM_001242603.1:c.*840C>T, NM_184244.1:c.419C>T, NM_184237.1:c.419C>T, NM_184241.1:c.419C>T, XM_047440602.1:c.890C>T, XM_047440603.1:c.890C>T, NP_004893.1:p.Thr297Ile, NP_909122.1:p.Thr297Ile, NP_001310352.1:p.Thr140Ile, NP_001310353.1:p.Thr296Ile, NP_001229528.1:p.Thr275Ile, NP_001229529.1:p.Thr275Ile, NP_001310351.1:p.Thr297Ile, XP_006723954.1:p.Thr140Ile, XP_016883627.1:p.Thr275Ile, XP_024307791.1:p.Thr140Ile, XP_047296561.1:p.Thr140Ile, XP_047296560.1:p.Thr140Ile, XP_047296558.1:p.Thr297Ile, XP_047296559.1:p.Thr297Ile

                    10.

                    rs1437773715 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:35704546 (GRCh38)
                      20:34292468 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:35704545:T:C
                      Gene:
                      RBM39 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000020.11:g.35704546T>C, NC_000020.10:g.34292468T>C, NG_029955.1:g.42791A>G, NM_004902.3:c.1510A>G, NM_004902.4:c.1510A>G, NM_184234.2:c.1528A>G, NM_184234.3:c.1528A>G, NM_001323423.1:c.1057A>G, NM_001323423.2:c.1057A>G, NR_040722.1:n.2010A>G, NR_040722.2:n.1934A>G, NR_040723.1:n.2009A>G, NR_040723.2:n.1933A>G, NR_040724.1:n.1992A>G, NR_040724.2:n.1916A>G, NM_001323424.1:c.1525A>G, NM_001323424.2:c.1525A>G, NM_001242599.1:c.1462A>G, NM_001242599.2:c.1462A>G, NM_001242600.1:c.1444A>G, NM_001242600.2:c.1444A>G, NM_001323422.1:c.1432A>G, NM_001323422.2:c.1432A>G, XM_006723891.5:c.1057A>G, XM_006723891.4:c.1057A>G, XM_006723891.3:c.1057A>G, XM_006723891.2:c.1057A>G, XM_006723891.1:c.1057A>G, XM_017028138.3:c.1366A>G, XM_017028138.2:c.1366A>G, XM_017028138.1:c.1366A>G, XM_024452023.2:c.1039A>G, XM_024452023.1:c.1039A>G, XM_047440605.1:c.1057A>G, XM_047440604.1:c.1057A>G, NM_001242601.1:c.*1478A>G, NM_001242602.1:c.*1456A>G, NM_001242603.1:c.*1460A>G, NM_184244.1:c.1057A>G, NM_184237.1:c.1057A>G, NM_184241.1:c.1039A>G, NP_004893.1:p.Thr504Ala, NP_909122.1:p.Thr510Ala, NP_001310352.1:p.Thr353Ala, NP_001310353.1:p.Thr509Ala, NP_001229528.1:p.Thr488Ala, NP_001229529.1:p.Thr482Ala, NP_001310351.1:p.Thr478Ala, XP_006723954.1:p.Thr353Ala, XP_016883627.1:p.Thr456Ala, XP_024307791.1:p.Thr347Ala, XP_047296561.1:p.Thr353Ala, XP_047296560.1:p.Thr353Ala

                      11.

                      rs1431774139 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TCT>- [Show Flanks]
                        Chromosome:
                        20:35705328 (GRCh38)
                        20:34293250 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:35705319:CTTCTTCTTCT:CTTCTTCT
                        Gene:
                        RBM39 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CTTCTTCT=0./0 (ALFA)
                        -=0.000013/3 (GnomAD_exomes)
                        -=0.000042/11 (TOPMED)
                        -=0.000078/11 (GnomAD)
                        HGVS:
                        NC_000020.11:g.35705322TCT[2], NC_000020.10:g.34293244TCT[2], NG_029955.1:g.42009AAG[2], NM_004902.3:c.1292AAG[2], NM_004902.4:c.1292AAG[2], NM_184234.2:c.1310AAG[2], NM_184234.3:c.1310AAG[2], NM_001323423.1:c.839AAG[2], NM_001323423.2:c.839AAG[2], NR_040722.1:n.1792AAG[2], NR_040722.2:n.1716AAG[2], NR_040723.1:n.1791AAG[2], NR_040723.2:n.1715AAG[2], NR_040724.1:n.1774AAG[2], NR_040724.2:n.1698AAG[2], NM_001323424.1:c.1307AAG[2], NM_001323424.2:c.1307AAG[2], NM_001242599.1:c.1244AAG[2], NM_001242599.2:c.1244AAG[2], NM_001242600.1:c.1226AAG[2], NM_001242600.2:c.1226AAG[2], NM_001323422.1:c.1214AAG[2], NM_001323422.2:c.1214AAG[2], XM_006723891.5:c.839AAG[2], XM_006723891.4:c.839AAG[2], XM_006723891.3:c.839AAG[2], XM_006723891.2:c.839AAG[2], XM_006723891.1:c.839AAG[2], XM_017028138.3:c.1148AAG[2], XM_017028138.2:c.1148AAG[2], XM_017028138.1:c.1148AAG[2], XM_024452023.2:c.821AAG[2], XM_024452023.1:c.821AAG[2], XM_047440605.1:c.839AAG[2], XM_047440604.1:c.839AAG[2], NM_001242601.1:c.*1260AAG[2], NM_001242602.1:c.*1238AAG[2], NM_001242603.1:c.*1242AAG[2], NM_184244.1:c.839AAG[2], NM_184237.1:c.839AAG[2], NM_184241.1:c.821AAG[2], NP_004893.1:p.Glu433del, NP_909122.1:p.Glu439del, NP_001310352.1:p.Glu282del, NP_001310353.1:p.Glu438del, NP_001229528.1:p.Glu417del, NP_001229529.1:p.Glu411del, NP_001310351.1:p.Glu407del, XP_006723954.1:p.Glu282del, XP_016883627.1:p.Glu385del, XP_024307791.1:p.Glu276del, XP_047296561.1:p.Glu282del, XP_047296560.1:p.Glu282del

                        12.

                        rs1430806305 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          20:35714349 (GRCh38)
                          20:34302271 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:35714348:A:T
                          Gene:
                          RBM39 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000020.11:g.35714349A>T, NC_000020.10:g.34302271A>T, NG_029955.1:g.32988T>A, NM_004902.3:c.932T>A, NM_004902.4:c.932T>A, NM_184234.2:c.932T>A, NM_184234.3:c.932T>A, NM_001323423.1:c.461T>A, NM_001323423.2:c.461T>A, NR_040722.1:n.1414T>A, NR_040722.2:n.1338T>A, NR_040723.1:n.1413T>A, NR_040723.2:n.1337T>A, NR_040724.1:n.1414T>A, NR_040724.2:n.1338T>A, NM_001323424.1:c.929T>A, NM_001323424.2:c.929T>A, NM_001242599.1:c.866T>A, NM_001242599.2:c.866T>A, NM_001242600.1:c.866T>A, NM_001242600.2:c.866T>A, NM_001323422.1:c.932T>A, NM_001323422.2:c.932T>A, XM_006723891.5:c.461T>A, XM_006723891.4:c.461T>A, XM_006723891.3:c.461T>A, XM_006723891.2:c.461T>A, XM_006723891.1:c.461T>A, XM_017028138.3:c.866T>A, XM_017028138.2:c.866T>A, XM_017028138.1:c.866T>A, XM_024452023.2:c.461T>A, XM_024452023.1:c.461T>A, XM_047440605.1:c.461T>A, XM_047440604.1:c.461T>A, NM_001242601.1:c.*882T>A, NM_001242602.1:c.*860T>A, NM_001242603.1:c.*882T>A, NM_184244.1:c.461T>A, NM_184237.1:c.461T>A, NM_184241.1:c.461T>A, XM_047440602.1:c.932T>A, XM_047440603.1:c.932T>A, NP_004893.1:p.Leu311His, NP_909122.1:p.Leu311His, NP_001310352.1:p.Leu154His, NP_001310353.1:p.Leu310His, NP_001229528.1:p.Leu289His, NP_001229529.1:p.Leu289His, NP_001310351.1:p.Leu311His, XP_006723954.1:p.Leu154His, XP_016883627.1:p.Leu289His, XP_024307791.1:p.Leu154His, XP_047296561.1:p.Leu154His, XP_047296560.1:p.Leu154His, XP_047296558.1:p.Leu311His, XP_047296559.1:p.Leu311His

                          13.

                          rs1421359643 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            20:35721828 (GRCh38)
                            20:34309750 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:35721827:C:T
                            Gene:
                            RBM39 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000020.11:g.35721828C>T, NC_000020.10:g.34309750C>T, NG_029955.1:g.25509G>A, NM_004902.3:c.737G>A, NM_004902.4:c.737G>A, NM_184234.2:c.737G>A, NM_184234.3:c.737G>A, NM_001323423.1:c.266G>A, NM_001323423.2:c.266G>A, NR_040722.1:n.1219G>A, NR_040722.2:n.1143G>A, NR_040723.1:n.1218G>A, NR_040723.2:n.1142G>A, NR_040724.1:n.1219G>A, NR_040724.2:n.1143G>A, NM_001323424.1:c.734G>A, NM_001323424.2:c.734G>A, NM_001242599.1:c.671G>A, NM_001242599.2:c.671G>A, NM_001242600.1:c.671G>A, NM_001242600.2:c.671G>A, NM_001323422.1:c.737G>A, NM_001323422.2:c.737G>A, XM_006723891.5:c.266G>A, XM_006723891.4:c.266G>A, XM_006723891.3:c.266G>A, XM_006723891.2:c.266G>A, XM_006723891.1:c.266G>A, XM_017028138.3:c.671G>A, XM_017028138.2:c.671G>A, XM_017028138.1:c.671G>A, XM_024452023.2:c.266G>A, XM_024452023.1:c.266G>A, XM_047440605.1:c.266G>A, XM_047440604.1:c.266G>A, NM_001242601.1:c.*687G>A, NM_001242602.1:c.*665G>A, NM_001242603.1:c.*687G>A, NM_184244.1:c.266G>A, NM_184237.1:c.266G>A, NM_184241.1:c.266G>A, XM_047440602.1:c.737G>A, XM_047440603.1:c.737G>A, NP_004893.1:p.Ser246Asn, NP_909122.1:p.Ser246Asn, NP_001310352.1:p.Ser89Asn, NP_001310353.1:p.Ser245Asn, NP_001229528.1:p.Ser224Asn, NP_001229529.1:p.Ser224Asn, NP_001310351.1:p.Ser246Asn, XP_006723954.1:p.Ser89Asn, XP_016883627.1:p.Ser224Asn, XP_024307791.1:p.Ser89Asn, XP_047296561.1:p.Ser89Asn, XP_047296560.1:p.Ser89Asn, XP_047296558.1:p.Ser246Asn, XP_047296559.1:p.Ser246Asn

                            14.

                            rs1419181607 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:35704486 (GRCh38)
                              20:34292408 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:35704485:G:A
                              Gene:
                              RBM39 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000020.11:g.35704486G>A, NC_000020.10:g.34292408G>A, NG_029955.1:g.42851C>T, NM_004902.3:c.1570C>T, NM_004902.4:c.1570C>T, NM_184234.2:c.1588C>T, NM_184234.3:c.1588C>T, NM_001323423.1:c.1117C>T, NM_001323423.2:c.1117C>T, NR_040722.1:n.2070C>T, NR_040722.2:n.1994C>T, NR_040723.1:n.2069C>T, NR_040723.2:n.1993C>T, NR_040724.1:n.2052C>T, NR_040724.2:n.1976C>T, NM_001323424.1:c.1585C>T, NM_001323424.2:c.1585C>T, NM_001242599.1:c.1522C>T, NM_001242599.2:c.1522C>T, NM_001242600.1:c.1504C>T, NM_001242600.2:c.1504C>T, NM_001323422.1:c.1492C>T, NM_001323422.2:c.1492C>T, XM_006723891.5:c.1117C>T, XM_006723891.4:c.1117C>T, XM_006723891.3:c.1117C>T, XM_006723891.2:c.1117C>T, XM_006723891.1:c.1117C>T, XM_017028138.3:c.1426C>T, XM_017028138.2:c.1426C>T, XM_017028138.1:c.1426C>T, XM_024452023.2:c.1099C>T, XM_024452023.1:c.1099C>T, XM_047440605.1:c.1117C>T, XM_047440604.1:c.1117C>T, NM_001242601.1:c.*1538C>T, NM_001242602.1:c.*1516C>T, NM_001242603.1:c.*1520C>T, NM_184244.1:c.1117C>T, NM_184237.1:c.1117C>T, NM_184241.1:c.1099C>T, NP_004893.1:p.Arg524Ter, NP_909122.1:p.Arg530Ter, NP_001310352.1:p.Arg373Ter, NP_001310353.1:p.Arg529Ter, NP_001229528.1:p.Arg508Ter, NP_001229529.1:p.Arg502Ter, NP_001310351.1:p.Arg498Ter, XP_006723954.1:p.Arg373Ter, XP_016883627.1:p.Arg476Ter, XP_024307791.1:p.Arg367Ter, XP_047296561.1:p.Arg373Ter, XP_047296560.1:p.Arg373Ter

                              15.

                              rs1417133764 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:35713080 (GRCh38)
                                20:34301002 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:35713079:A:G
                                Gene:
                                RBM39 (Varview)
                                Functional Consequence:
                                intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                HGVS:
                                NC_000020.11:g.35713080A>G, NC_000020.10:g.34301002A>G, NG_029955.1:g.34257T>C, NM_004902.3:c.1113T>C, NM_004902.4:c.1113T>C, NM_184234.2:c.1113T>C, NM_184234.3:c.1113T>C, NM_001323423.1:c.642T>C, NM_001323423.2:c.642T>C, NR_040722.1:n.1595T>C, NR_040722.2:n.1519T>C, NR_040723.1:n.1594T>C, NR_040723.2:n.1518T>C, NR_040724.1:n.1595T>C, NR_040724.2:n.1519T>C, NM_001323424.1:c.1110T>C, NM_001323424.2:c.1110T>C, NM_001242599.1:c.1047T>C, NM_001242599.2:c.1047T>C, NM_001242600.1:c.1047T>C, NM_001242600.2:c.1047T>C, XM_006723891.5:c.642T>C, XM_006723891.4:c.642T>C, XM_006723891.3:c.642T>C, XM_006723891.2:c.642T>C, XM_006723891.1:c.642T>C, XM_024452023.2:c.642T>C, XM_024452023.1:c.642T>C, XM_047440605.1:c.642T>C, XM_047440604.1:c.642T>C, NM_001242601.1:c.*1063T>C, NM_001242602.1:c.*1041T>C, NM_001242603.1:c.*1063T>C, NM_184244.1:c.642T>C, NM_184237.1:c.642T>C, NM_184241.1:c.642T>C, XM_047440602.1:c.1113T>C

                                16.

                                rs1410284076 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  20:35705321 (GRCh38)
                                  20:34293243 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:35705320:T:A,NC_000020.11:35705320:T:C
                                  Gene:
                                  RBM39 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  C=0.000425/7 (TOMMO)
                                  HGVS:
                                  NC_000020.11:g.35705321T>A, NC_000020.11:g.35705321T>C, NC_000020.10:g.34293243T>A, NC_000020.10:g.34293243T>C, NG_029955.1:g.42016A>T, NG_029955.1:g.42016A>G, NM_004902.3:c.1299A>T, NM_004902.3:c.1299A>G, NM_004902.4:c.1299A>T, NM_004902.4:c.1299A>G, NM_184234.2:c.1317A>T, NM_184234.2:c.1317A>G, NM_184234.3:c.1317A>T, NM_184234.3:c.1317A>G, NM_001323423.1:c.846A>T, NM_001323423.1:c.846A>G, NM_001323423.2:c.846A>T, NM_001323423.2:c.846A>G, NR_040722.1:n.1799A>T, NR_040722.1:n.1799A>G, NR_040722.2:n.1723A>T, NR_040722.2:n.1723A>G, NR_040723.1:n.1798A>T, NR_040723.1:n.1798A>G, NR_040723.2:n.1722A>T, NR_040723.2:n.1722A>G, NR_040724.1:n.1781A>T, NR_040724.1:n.1781A>G, NR_040724.2:n.1705A>T, NR_040724.2:n.1705A>G, NM_001323424.1:c.1314A>T, NM_001323424.1:c.1314A>G, NM_001323424.2:c.1314A>T, NM_001323424.2:c.1314A>G, NM_001242599.1:c.1251A>T, NM_001242599.1:c.1251A>G, NM_001242599.2:c.1251A>T, NM_001242599.2:c.1251A>G, NM_001242600.1:c.1233A>T, NM_001242600.1:c.1233A>G, NM_001242600.2:c.1233A>T, NM_001242600.2:c.1233A>G, NM_001323422.1:c.1221A>T, NM_001323422.1:c.1221A>G, NM_001323422.2:c.1221A>T, NM_001323422.2:c.1221A>G, XM_006723891.5:c.846A>T, XM_006723891.5:c.846A>G, XM_006723891.4:c.846A>T, XM_006723891.4:c.846A>G, XM_006723891.3:c.846A>T, XM_006723891.3:c.846A>G, XM_006723891.2:c.846A>T, XM_006723891.2:c.846A>G, XM_006723891.1:c.846A>T, XM_006723891.1:c.846A>G, XM_017028138.3:c.1155A>T, XM_017028138.3:c.1155A>G, XM_017028138.2:c.1155A>T, XM_017028138.2:c.1155A>G, XM_017028138.1:c.1155A>T, XM_017028138.1:c.1155A>G, XM_024452023.2:c.828A>T, XM_024452023.2:c.828A>G, XM_024452023.1:c.828A>T, XM_024452023.1:c.828A>G, XM_047440605.1:c.846A>T, XM_047440605.1:c.846A>G, XM_047440604.1:c.846A>T, XM_047440604.1:c.846A>G, NM_001242601.1:c.*1267A>T, NM_001242601.1:c.*1267A>G, NM_001242602.1:c.*1245A>T, NM_001242602.1:c.*1245A>G, NM_001242603.1:c.*1249A>T, NM_001242603.1:c.*1249A>G, NM_184244.1:c.846A>T, NM_184244.1:c.846A>G, NM_184237.1:c.846A>T, NM_184237.1:c.846A>G, NM_184241.1:c.828A>T, NM_184241.1:c.828A>G, NP_004893.1:p.Glu433Asp, NP_909122.1:p.Glu439Asp, NP_001310352.1:p.Glu282Asp, NP_001310353.1:p.Glu438Asp, NP_001229528.1:p.Glu417Asp, NP_001229529.1:p.Glu411Asp, NP_001310351.1:p.Glu407Asp, XP_006723954.1:p.Glu282Asp, XP_016883627.1:p.Glu385Asp, XP_024307791.1:p.Glu276Asp, XP_047296561.1:p.Glu282Asp, XP_047296560.1:p.Glu282Asp

                                  17.

                                  rs1399723018 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:35707149 (GRCh38)
                                    20:34295071 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:35707148:G:A
                                    Gene:
                                    RBM39 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    HGVS:
                                    NC_000020.11:g.35707149G>A, NC_000020.10:g.34295071G>A, NG_029955.1:g.40188C>T, NM_004902.3:c.1260C>T, NM_004902.4:c.1260C>T, NM_184234.2:c.1278C>T, NM_184234.3:c.1278C>T, NM_001323423.1:c.807C>T, NM_001323423.2:c.807C>T, NR_040722.1:n.1760C>T, NR_040722.2:n.1684C>T, NR_040723.1:n.1759C>T, NR_040723.2:n.1683C>T, NR_040724.1:n.1742C>T, NR_040724.2:n.1666C>T, NM_001323424.1:c.1275C>T, NM_001323424.2:c.1275C>T, NM_001242599.1:c.1212C>T, NM_001242599.2:c.1212C>T, NM_001242600.1:c.1194C>T, NM_001242600.2:c.1194C>T, NM_001323422.1:c.1182C>T, NM_001323422.2:c.1182C>T, XM_006723891.5:c.807C>T, XM_006723891.4:c.807C>T, XM_006723891.3:c.807C>T, XM_006723891.2:c.807C>T, XM_006723891.1:c.807C>T, XM_017028138.3:c.1116C>T, XM_017028138.2:c.1116C>T, XM_017028138.1:c.1116C>T, XM_024452023.2:c.789C>T, XM_024452023.1:c.789C>T, XM_047440605.1:c.807C>T, XM_047440604.1:c.807C>T, NM_001242601.1:c.*1228C>T, NM_001242602.1:c.*1206C>T, NM_001242603.1:c.*1210C>T, NM_184244.1:c.807C>T, NM_184237.1:c.807C>T, NM_184241.1:c.789C>T

                                    18.

                                    rs1394609779 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      20:35704741 (GRCh38)
                                      20:34292663 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:35704740:A:G
                                      Gene:
                                      RBM39 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.35704741A>G, NC_000020.10:g.34292663A>G, NG_029955.1:g.42596T>C, NM_004902.3:c.1401T>C, NM_004902.4:c.1401T>C, NM_184234.2:c.1419T>C, NM_184234.3:c.1419T>C, NM_001323423.1:c.948T>C, NM_001323423.2:c.948T>C, NR_040722.1:n.1901T>C, NR_040722.2:n.1825T>C, NR_040723.1:n.1900T>C, NR_040723.2:n.1824T>C, NR_040724.1:n.1883T>C, NR_040724.2:n.1807T>C, NM_001323424.1:c.1416T>C, NM_001323424.2:c.1416T>C, NM_001242599.1:c.1353T>C, NM_001242599.2:c.1353T>C, NM_001242600.1:c.1335T>C, NM_001242600.2:c.1335T>C, NM_001323422.1:c.1323T>C, NM_001323422.2:c.1323T>C, XM_006723891.5:c.948T>C, XM_006723891.4:c.948T>C, XM_006723891.3:c.948T>C, XM_006723891.2:c.948T>C, XM_006723891.1:c.948T>C, XM_017028138.3:c.1257T>C, XM_017028138.2:c.1257T>C, XM_017028138.1:c.1257T>C, XM_024452023.2:c.930T>C, XM_024452023.1:c.930T>C, XM_047440605.1:c.948T>C, XM_047440604.1:c.948T>C, NM_001242601.1:c.*1369T>C, NM_001242602.1:c.*1347T>C, NM_001242603.1:c.*1351T>C, NM_184244.1:c.948T>C, NM_184237.1:c.948T>C, NM_184241.1:c.930T>C

                                      19.

                                      rs1387971109 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        20:35704735 (GRCh38)
                                        20:34292657 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:35704734:A:G
                                        Gene:
                                        RBM39 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        HGVS:
                                        NC_000020.11:g.35704735A>G, NC_000020.10:g.34292657A>G, NG_029955.1:g.42602T>C, NM_004902.3:c.1407T>C, NM_004902.4:c.1407T>C, NM_184234.2:c.1425T>C, NM_184234.3:c.1425T>C, NM_001323423.1:c.954T>C, NM_001323423.2:c.954T>C, NR_040722.1:n.1907T>C, NR_040722.2:n.1831T>C, NR_040723.1:n.1906T>C, NR_040723.2:n.1830T>C, NR_040724.1:n.1889T>C, NR_040724.2:n.1813T>C, NM_001323424.1:c.1422T>C, NM_001323424.2:c.1422T>C, NM_001242599.1:c.1359T>C, NM_001242599.2:c.1359T>C, NM_001242600.1:c.1341T>C, NM_001242600.2:c.1341T>C, NM_001323422.1:c.1329T>C, NM_001323422.2:c.1329T>C, XM_006723891.5:c.954T>C, XM_006723891.4:c.954T>C, XM_006723891.3:c.954T>C, XM_006723891.2:c.954T>C, XM_006723891.1:c.954T>C, XM_017028138.3:c.1263T>C, XM_017028138.2:c.1263T>C, XM_017028138.1:c.1263T>C, XM_024452023.2:c.936T>C, XM_024452023.1:c.936T>C, XM_047440605.1:c.954T>C, XM_047440604.1:c.954T>C, NM_001242601.1:c.*1375T>C, NM_001242602.1:c.*1353T>C, NM_001242603.1:c.*1357T>C, NM_184244.1:c.954T>C, NM_184237.1:c.954T>C, NM_184241.1:c.936T>C

                                        20.

                                        rs1373168358 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          20:35721841 (GRCh38)
                                          20:34309763 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:35721840:A:T
                                          Gene:
                                          RBM39 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000020.11:g.35721841A>T, NC_000020.10:g.34309763A>T, NG_029955.1:g.25496T>A, NM_004902.3:c.724T>A, NM_004902.4:c.724T>A, NM_184234.2:c.724T>A, NM_184234.3:c.724T>A, NM_001323423.1:c.253T>A, NM_001323423.2:c.253T>A, NR_040722.1:n.1206T>A, NR_040722.2:n.1130T>A, NR_040723.1:n.1205T>A, NR_040723.2:n.1129T>A, NR_040724.1:n.1206T>A, NR_040724.2:n.1130T>A, NM_001323424.1:c.721T>A, NM_001323424.2:c.721T>A, NM_001242599.1:c.658T>A, NM_001242599.2:c.658T>A, NM_001242600.1:c.658T>A, NM_001242600.2:c.658T>A, NM_001323422.1:c.724T>A, NM_001323422.2:c.724T>A, XM_006723891.5:c.253T>A, XM_006723891.4:c.253T>A, XM_006723891.3:c.253T>A, XM_006723891.2:c.253T>A, XM_006723891.1:c.253T>A, XM_017028138.3:c.658T>A, XM_017028138.2:c.658T>A, XM_017028138.1:c.658T>A, XM_024452023.2:c.253T>A, XM_024452023.1:c.253T>A, XM_047440605.1:c.253T>A, XM_047440604.1:c.253T>A, NM_001242601.1:c.*674T>A, NM_001242602.1:c.*652T>A, NM_001242603.1:c.*674T>A, NM_184244.1:c.253T>A, NM_184237.1:c.253T>A, NM_184241.1:c.253T>A, XM_047440602.1:c.724T>A, XM_047440603.1:c.724T>A, NP_004893.1:p.Leu242Ile, NP_909122.1:p.Leu242Ile, NP_001310352.1:p.Leu85Ile, NP_001310353.1:p.Leu241Ile, NP_001229528.1:p.Leu220Ile, NP_001229529.1:p.Leu220Ile, NP_001310351.1:p.Leu242Ile, XP_006723954.1:p.Leu85Ile, XP_016883627.1:p.Leu220Ile, XP_024307791.1:p.Leu85Ile, XP_047296561.1:p.Leu85Ile, XP_047296560.1:p.Leu85Ile, XP_047296558.1:p.Leu242Ile, XP_047296559.1:p.Leu242Ile

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