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Items: 1 to 20 of 317

1.

rs1487927301 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    1:108698797 (GRCh38)
    1:109241419 (GRCh37)
    Canonical SPDI:
    NC_000001.11:108698796:T:C,NC_000001.11:108698796:T:G
    Gene:
    PRPF38B (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    G=0.000035/1 (TOMMO)
    HGVS:
    NC_000001.11:g.108698797T>C, NC_000001.11:g.108698797T>G, NC_000001.10:g.109241419T>C, NC_000001.10:g.109241419T>G, NM_018061.4:c.752T>C, NM_018061.4:c.752T>G, NM_018061.3:c.752T>C, NM_018061.3:c.752T>G, NM_018061.2:c.752T>C, NM_018061.2:c.752T>G, NM_001349767.2:c.161T>C, NM_001349767.2:c.161T>G, NM_001349767.1:c.161T>C, NM_001349767.1:c.161T>G, NM_001349769.2:c.161T>C, NM_001349769.2:c.161T>G, NM_001349769.1:c.161T>C, NM_001349769.1:c.161T>G, NM_001349770.2:c.161T>C, NM_001349770.2:c.161T>G, NM_001349770.1:c.161T>C, NM_001349770.1:c.161T>G, NM_001349758.2:c.200T>C, NM_001349758.2:c.200T>G, NM_001349758.1:c.200T>C, NM_001349758.1:c.200T>G, NM_001349771.2:c.161T>C, NM_001349771.2:c.161T>G, NM_001349771.1:c.161T>C, NM_001349771.1:c.161T>G, NM_001349766.2:c.161T>C, NM_001349766.2:c.161T>G, NM_001349766.1:c.161T>C, NM_001349766.1:c.161T>G, NM_001349768.2:c.161T>C, NM_001349768.2:c.161T>G, NM_001349768.1:c.161T>C, NM_001349768.1:c.161T>G, NM_001349763.2:c.206T>C, NM_001349763.2:c.206T>G, NM_001349763.1:c.206T>C, NM_001349763.1:c.206T>G, NM_001349761.2:c.317T>C, NM_001349761.2:c.317T>G, NM_001349761.1:c.317T>C, NM_001349761.1:c.317T>G, NM_001349759.2:c.200T>C, NM_001349759.2:c.200T>G, NM_001349759.1:c.200T>C, NM_001349759.1:c.200T>G, NM_001349757.2:c.419T>C, NM_001349757.2:c.419T>G, NM_001349757.1:c.419T>C, NM_001349757.1:c.419T>G, NM_001349764.2:c.206T>C, NM_001349764.2:c.206T>G, NM_001349764.1:c.206T>C, NM_001349764.1:c.206T>G, NM_001349765.2:c.206T>C, NM_001349765.2:c.206T>G, NM_001349765.1:c.206T>C, NM_001349765.1:c.206T>G, NM_001349762.2:c.317T>C, NM_001349762.2:c.317T>G, NM_001349762.1:c.317T>C, NM_001349762.1:c.317T>G, XM_047423900.1:c.200T>C, XM_047423900.1:c.200T>G, NR_037185.1:n.1084T>C, NR_037185.1:n.1084T>G, NP_060531.2:p.Ile251Thr, NP_060531.2:p.Ile251Arg, NP_001336696.1:p.Ile54Thr, NP_001336696.1:p.Ile54Arg, NP_001336698.1:p.Ile54Thr, NP_001336698.1:p.Ile54Arg, NP_001336699.1:p.Ile54Thr, NP_001336699.1:p.Ile54Arg, NP_001336687.1:p.Ile67Thr, NP_001336687.1:p.Ile67Arg, NP_001336700.1:p.Ile54Thr, NP_001336700.1:p.Ile54Arg, NP_001336695.1:p.Ile54Thr, NP_001336695.1:p.Ile54Arg, NP_001336697.1:p.Ile54Thr, NP_001336697.1:p.Ile54Arg, NP_001336692.1:p.Ile69Thr, NP_001336692.1:p.Ile69Arg, NP_001336690.1:p.Ile106Thr, NP_001336690.1:p.Ile106Arg, NP_001336688.1:p.Ile67Thr, NP_001336688.1:p.Ile67Arg, NP_001336686.1:p.Ile140Thr, NP_001336686.1:p.Ile140Arg, NP_001336693.1:p.Ile69Thr, NP_001336693.1:p.Ile69Arg, NP_001336694.1:p.Ile69Thr, NP_001336694.1:p.Ile69Arg, NP_001336691.1:p.Ile106Thr, NP_001336691.1:p.Ile106Arg, XP_047279856.1:p.Ile67Thr, XP_047279856.1:p.Ile67Arg

    2.

    rs1487577933 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:108699333 (GRCh38)
      1:109241955 (GRCh37)
      Canonical SPDI:
      NC_000001.11:108699332:C:G,NC_000001.11:108699332:C:T
      Gene:
      PRPF38B (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000001.11:g.108699333C>G, NC_000001.11:g.108699333C>T, NC_000001.10:g.109241955C>G, NC_000001.10:g.109241955C>T, NM_018061.4:c.954C>G, NM_018061.4:c.954C>T, NM_018061.3:c.954C>G, NM_018061.3:c.954C>T, NM_018061.2:c.954C>G, NM_018061.2:c.954C>T, NM_001349767.2:c.363C>G, NM_001349767.2:c.363C>T, NM_001349767.1:c.363C>G, NM_001349767.1:c.363C>T, NM_001349769.2:c.363C>G, NM_001349769.2:c.363C>T, NM_001349769.1:c.363C>G, NM_001349769.1:c.363C>T, NM_001349770.2:c.363C>G, NM_001349770.2:c.363C>T, NM_001349770.1:c.363C>G, NM_001349770.1:c.363C>T, NM_001349758.2:c.402C>G, NM_001349758.2:c.402C>T, NM_001349758.1:c.402C>G, NM_001349758.1:c.402C>T, NM_001349771.2:c.363C>G, NM_001349771.2:c.363C>T, NM_001349771.1:c.363C>G, NM_001349771.1:c.363C>T, NM_001349766.2:c.363C>G, NM_001349766.2:c.363C>T, NM_001349766.1:c.363C>G, NM_001349766.1:c.363C>T, NM_001349768.2:c.363C>G, NM_001349768.2:c.363C>T, NM_001349768.1:c.363C>G, NM_001349768.1:c.363C>T, NM_001349763.2:c.408C>G, NM_001349763.2:c.408C>T, NM_001349763.1:c.408C>G, NM_001349763.1:c.408C>T, NM_001349761.2:c.519C>G, NM_001349761.2:c.519C>T, NM_001349761.1:c.519C>G, NM_001349761.1:c.519C>T, NM_001349759.2:c.402C>G, NM_001349759.2:c.402C>T, NM_001349759.1:c.402C>G, NM_001349759.1:c.402C>T, NM_001349757.2:c.621C>G, NM_001349757.2:c.621C>T, NM_001349757.1:c.621C>G, NM_001349757.1:c.621C>T, NM_001349764.2:c.408C>G, NM_001349764.2:c.408C>T, NM_001349764.1:c.408C>G, NM_001349764.1:c.408C>T, NM_001349765.2:c.408C>G, NM_001349765.2:c.408C>T, NM_001349765.1:c.408C>G, NM_001349765.1:c.408C>T, NM_001349762.2:c.519C>G, NM_001349762.2:c.519C>T, NM_001349762.1:c.519C>G, NM_001349762.1:c.519C>T, XM_047423900.1:c.402C>G, XM_047423900.1:c.402C>T, NR_037185.1:n.1286C>G, NR_037185.1:n.1286C>T

      3.

      rs1480439461 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:108699229 (GRCh38)
        1:109241851 (GRCh37)
        Canonical SPDI:
        NC_000001.11:108699228:G:A
        Gene:
        PRPF38B (Varview)
        Functional Consequence:
        downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000001.11:g.108699229G>A, NC_000001.10:g.109241851G>A, NM_018061.4:c.850G>A, NM_018061.3:c.850G>A, NM_018061.2:c.850G>A, NM_001349767.2:c.259G>A, NM_001349767.1:c.259G>A, NM_001349769.2:c.259G>A, NM_001349769.1:c.259G>A, NM_001349770.2:c.259G>A, NM_001349770.1:c.259G>A, NM_001349758.2:c.298G>A, NM_001349758.1:c.298G>A, NM_001349771.2:c.259G>A, NM_001349771.1:c.259G>A, NM_001349766.2:c.259G>A, NM_001349766.1:c.259G>A, NM_001349768.2:c.259G>A, NM_001349768.1:c.259G>A, NM_001349763.2:c.304G>A, NM_001349763.1:c.304G>A, NM_001349761.2:c.415G>A, NM_001349761.1:c.415G>A, NM_001349759.2:c.298G>A, NM_001349759.1:c.298G>A, NM_001349757.2:c.517G>A, NM_001349757.1:c.517G>A, NM_001349764.2:c.304G>A, NM_001349764.1:c.304G>A, NM_001349765.2:c.304G>A, NM_001349765.1:c.304G>A, NM_001349762.2:c.415G>A, NM_001349762.1:c.415G>A, XM_047423900.1:c.298G>A, NR_037185.1:n.1182G>A, NP_060531.2:p.Glu284Lys, NP_001336696.1:p.Glu87Lys, NP_001336698.1:p.Glu87Lys, NP_001336699.1:p.Glu87Lys, NP_001336687.1:p.Glu100Lys, NP_001336700.1:p.Glu87Lys, NP_001336695.1:p.Glu87Lys, NP_001336697.1:p.Glu87Lys, NP_001336692.1:p.Glu102Lys, NP_001336690.1:p.Glu139Lys, NP_001336688.1:p.Glu100Lys, NP_001336686.1:p.Glu173Lys, NP_001336693.1:p.Glu102Lys, NP_001336694.1:p.Glu102Lys, NP_001336691.1:p.Glu139Lys, XP_047279856.1:p.Glu100Lys

        4.

        rs1479665069 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:108699793 (GRCh38)
          1:109242415 (GRCh37)
          Canonical SPDI:
          NC_000001.11:108699792:C:T
          Gene:
          PRPF38B (Varview)
          Functional Consequence:
          stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00003/1 (ALFA)
          T=0.00004/1 (TOMMO)
          HGVS:
          NC_000001.11:g.108699793C>T, NC_000001.10:g.109242415C>T, NM_018061.4:c.1414C>T, NM_018061.3:c.1414C>T, NM_018061.2:c.1414C>T, NM_001349767.2:c.823C>T, NM_001349767.1:c.823C>T, NM_001349769.2:c.823C>T, NM_001349769.1:c.823C>T, NM_001349770.2:c.823C>T, NM_001349770.1:c.823C>T, NM_001349758.2:c.862C>T, NM_001349758.1:c.862C>T, NM_001349771.2:c.823C>T, NM_001349771.1:c.823C>T, NM_001349766.2:c.823C>T, NM_001349766.1:c.823C>T, NM_001349768.2:c.823C>T, NM_001349768.1:c.823C>T, NM_001349763.2:c.868C>T, NM_001349763.1:c.868C>T, NM_001349761.2:c.979C>T, NM_001349761.1:c.979C>T, NM_001349759.2:c.862C>T, NM_001349759.1:c.862C>T, NM_001349757.2:c.1081C>T, NM_001349757.1:c.1081C>T, NM_001349764.2:c.868C>T, NM_001349764.1:c.868C>T, NM_001349765.2:c.868C>T, NM_001349765.1:c.868C>T, NM_001349762.2:c.979C>T, NM_001349762.1:c.979C>T, XM_047423900.1:c.862C>T, NR_037185.1:n.1746C>T, NP_060531.2:p.Arg472Ter, NP_001336696.1:p.Arg275Ter, NP_001336698.1:p.Arg275Ter, NP_001336699.1:p.Arg275Ter, NP_001336687.1:p.Arg288Ter, NP_001336700.1:p.Arg275Ter, NP_001336695.1:p.Arg275Ter, NP_001336697.1:p.Arg275Ter, NP_001336692.1:p.Arg290Ter, NP_001336690.1:p.Arg327Ter, NP_001336688.1:p.Arg288Ter, NP_001336686.1:p.Arg361Ter, NP_001336693.1:p.Arg290Ter, NP_001336694.1:p.Arg290Ter, NP_001336691.1:p.Arg327Ter, XP_047279856.1:p.Arg288Ter

          5.

          rs1479065298 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:108699342 (GRCh38)
            1:109241964 (GRCh37)
            Canonical SPDI:
            NC_000001.11:108699341:T:C
            Gene:
            PRPF38B (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.108699342T>C, NC_000001.10:g.109241964T>C, NM_018061.4:c.963T>C, NM_018061.3:c.963T>C, NM_018061.2:c.963T>C, NM_001349767.2:c.372T>C, NM_001349767.1:c.372T>C, NM_001349769.2:c.372T>C, NM_001349769.1:c.372T>C, NM_001349770.2:c.372T>C, NM_001349770.1:c.372T>C, NM_001349758.2:c.411T>C, NM_001349758.1:c.411T>C, NM_001349771.2:c.372T>C, NM_001349771.1:c.372T>C, NM_001349766.2:c.372T>C, NM_001349766.1:c.372T>C, NM_001349768.2:c.372T>C, NM_001349768.1:c.372T>C, NM_001349763.2:c.417T>C, NM_001349763.1:c.417T>C, NM_001349761.2:c.528T>C, NM_001349761.1:c.528T>C, NM_001349759.2:c.411T>C, NM_001349759.1:c.411T>C, NM_001349757.2:c.630T>C, NM_001349757.1:c.630T>C, NM_001349764.2:c.417T>C, NM_001349764.1:c.417T>C, NM_001349765.2:c.417T>C, NM_001349765.1:c.417T>C, NM_001349762.2:c.528T>C, NM_001349762.1:c.528T>C, XM_047423900.1:c.411T>C, NR_037185.1:n.1295T>C

            6.

            rs1476504916 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TAG>- [Show Flanks]
              Chromosome:
              1:108699657 (GRCh38)
              1:109242279 (GRCh37)
              Canonical SPDI:
              NC_000001.11:108699654:AGTAG:AG
              Gene:
              PRPF38B (Varview)
              Functional Consequence:
              inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AG=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.108699657_108699659del, NC_000001.10:g.109242279_109242281del, NM_018061.4:c.1278_1280del, NM_018061.3:c.1278_1280del, NM_018061.2:c.1278_1280del, NM_001349767.2:c.687_689del, NM_001349767.1:c.687_689del, NM_001349769.2:c.687_689del, NM_001349769.1:c.687_689del, NM_001349770.2:c.687_689del, NM_001349770.1:c.687_689del, NM_001349758.2:c.726_728del, NM_001349758.1:c.726_728del, NM_001349771.2:c.687_689del, NM_001349771.1:c.687_689del, NM_001349766.2:c.687_689del, NM_001349766.1:c.687_689del, NM_001349768.2:c.687_689del, NM_001349768.1:c.687_689del, NM_001349763.2:c.732_734del, NM_001349763.1:c.732_734del, NM_001349761.2:c.843_845del, NM_001349761.1:c.843_845del, NM_001349759.2:c.726_728del, NM_001349759.1:c.726_728del, NM_001349757.2:c.945_947del, NM_001349757.1:c.945_947del, NM_001349764.2:c.732_734del, NM_001349764.1:c.732_734del, NM_001349765.2:c.732_734del, NM_001349765.1:c.732_734del, NM_001349762.2:c.843_845del, NM_001349762.1:c.843_845del, XM_047423900.1:c.726_728del, NR_037185.1:n.1610_1612del, NP_060531.2:p.Ser426del, NP_001336696.1:p.Ser229del, NP_001336698.1:p.Ser229del, NP_001336699.1:p.Ser229del, NP_001336687.1:p.Ser242del, NP_001336700.1:p.Ser229del, NP_001336695.1:p.Ser229del, NP_001336697.1:p.Ser229del, NP_001336692.1:p.Ser244del, NP_001336690.1:p.Ser281del, NP_001336688.1:p.Ser242del, NP_001336686.1:p.Ser315del, NP_001336693.1:p.Ser244del, NP_001336694.1:p.Ser244del, NP_001336691.1:p.Ser281del, XP_047279856.1:p.Ser242del

              7.

              rs1473364491 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:108699414 (GRCh38)
                1:109242036 (GRCh37)
                Canonical SPDI:
                NC_000001.11:108699413:G:A
                Gene:
                PRPF38B (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.108699414G>A, NC_000001.10:g.109242036G>A, NM_018061.4:c.1035G>A, NM_018061.3:c.1035G>A, NM_018061.2:c.1035G>A, NM_001349767.2:c.444G>A, NM_001349767.1:c.444G>A, NM_001349769.2:c.444G>A, NM_001349769.1:c.444G>A, NM_001349770.2:c.444G>A, NM_001349770.1:c.444G>A, NM_001349758.2:c.483G>A, NM_001349758.1:c.483G>A, NM_001349771.2:c.444G>A, NM_001349771.1:c.444G>A, NM_001349766.2:c.444G>A, NM_001349766.1:c.444G>A, NM_001349768.2:c.444G>A, NM_001349768.1:c.444G>A, NM_001349763.2:c.489G>A, NM_001349763.1:c.489G>A, NM_001349761.2:c.600G>A, NM_001349761.1:c.600G>A, NM_001349759.2:c.483G>A, NM_001349759.1:c.483G>A, NM_001349757.2:c.702G>A, NM_001349757.1:c.702G>A, NM_001349764.2:c.489G>A, NM_001349764.1:c.489G>A, NM_001349765.2:c.489G>A, NM_001349765.1:c.489G>A, NM_001349762.2:c.600G>A, NM_001349762.1:c.600G>A, XM_047423900.1:c.483G>A, NR_037185.1:n.1367G>A

                8.

                rs1461202187 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:108699613 (GRCh38)
                  1:109242235 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:108699612:C:G
                  Gene:
                  PRPF38B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000006/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.108699613C>G, NC_000001.10:g.109242235C>G, NM_018061.4:c.1234C>G, NM_018061.3:c.1234C>G, NM_018061.2:c.1234C>G, NM_001349767.2:c.643C>G, NM_001349767.1:c.643C>G, NM_001349769.2:c.643C>G, NM_001349769.1:c.643C>G, NM_001349770.2:c.643C>G, NM_001349770.1:c.643C>G, NM_001349758.2:c.682C>G, NM_001349758.1:c.682C>G, NM_001349771.2:c.643C>G, NM_001349771.1:c.643C>G, NM_001349766.2:c.643C>G, NM_001349766.1:c.643C>G, NM_001349768.2:c.643C>G, NM_001349768.1:c.643C>G, NM_001349763.2:c.688C>G, NM_001349763.1:c.688C>G, NM_001349761.2:c.799C>G, NM_001349761.1:c.799C>G, NM_001349759.2:c.682C>G, NM_001349759.1:c.682C>G, NM_001349757.2:c.901C>G, NM_001349757.1:c.901C>G, NM_001349764.2:c.688C>G, NM_001349764.1:c.688C>G, NM_001349765.2:c.688C>G, NM_001349765.1:c.688C>G, NM_001349762.2:c.799C>G, NM_001349762.1:c.799C>G, XM_047423900.1:c.682C>G, NR_037185.1:n.1566C>G, NP_060531.2:p.His412Asp, NP_001336696.1:p.His215Asp, NP_001336698.1:p.His215Asp, NP_001336699.1:p.His215Asp, NP_001336687.1:p.His228Asp, NP_001336700.1:p.His215Asp, NP_001336695.1:p.His215Asp, NP_001336697.1:p.His215Asp, NP_001336692.1:p.His230Asp, NP_001336690.1:p.His267Asp, NP_001336688.1:p.His228Asp, NP_001336686.1:p.His301Asp, NP_001336693.1:p.His230Asp, NP_001336694.1:p.His230Asp, NP_001336691.1:p.His267Asp, XP_047279856.1:p.His228Asp

                  9.

                  rs1459074601 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TAAA>- [Show Flanks]
                    Chromosome:
                    1:108699783 (GRCh38)
                    1:109242405 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:108699779:AAATAAA:AAA
                    Gene:
                    PRPF38B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAA=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    -=0.000106/2 (TOMMO)
                    HGVS:
                    NC_000001.11:g.108699783_108699786del, NC_000001.10:g.109242405_109242408del, NM_018061.4:c.1404_1407del, NM_018061.3:c.1404_1407del, NM_018061.2:c.1404_1407del, NM_001349767.2:c.813_816del, NM_001349767.1:c.813_816del, NM_001349769.2:c.813_816del, NM_001349769.1:c.813_816del, NM_001349770.2:c.813_816del, NM_001349770.1:c.813_816del, NM_001349758.2:c.852_855del, NM_001349758.1:c.852_855del, NM_001349771.2:c.813_816del, NM_001349771.1:c.813_816del, NM_001349766.2:c.813_816del, NM_001349766.1:c.813_816del, NM_001349768.2:c.813_816del, NM_001349768.1:c.813_816del, NM_001349763.2:c.858_861del, NM_001349763.1:c.858_861del, NM_001349761.2:c.969_972del, NM_001349761.1:c.969_972del, NM_001349759.2:c.852_855del, NM_001349759.1:c.852_855del, NM_001349757.2:c.1071_1074del, NM_001349757.1:c.1071_1074del, NM_001349764.2:c.858_861del, NM_001349764.1:c.858_861del, NM_001349765.2:c.858_861del, NM_001349765.1:c.858_861del, NM_001349762.2:c.969_972del, NM_001349762.1:c.969_972del, XM_047423900.1:c.852_855del, NR_037185.1:n.1736_1739del, NP_060531.2:p.Lys469fs, NP_001336696.1:p.Lys272fs, NP_001336698.1:p.Lys272fs, NP_001336699.1:p.Lys272fs, NP_001336687.1:p.Lys285fs, NP_001336700.1:p.Lys272fs, NP_001336695.1:p.Lys272fs, NP_001336697.1:p.Lys272fs, NP_001336692.1:p.Lys287fs, NP_001336690.1:p.Lys324fs, NP_001336688.1:p.Lys285fs, NP_001336686.1:p.Lys358fs, NP_001336693.1:p.Lys287fs, NP_001336694.1:p.Lys287fs, NP_001336691.1:p.Lys324fs, XP_047279856.1:p.Lys285fs

                    10.

                    rs1456138981 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:108699633 (GRCh38)
                      1:109242255 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:108699632:T:C
                      Gene:
                      PRPF38B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.108699633T>C, NC_000001.10:g.109242255T>C, NM_018061.4:c.1254T>C, NM_018061.3:c.1254T>C, NM_018061.2:c.1254T>C, NM_001349767.2:c.663T>C, NM_001349767.1:c.663T>C, NM_001349769.2:c.663T>C, NM_001349769.1:c.663T>C, NM_001349770.2:c.663T>C, NM_001349770.1:c.663T>C, NM_001349758.2:c.702T>C, NM_001349758.1:c.702T>C, NM_001349771.2:c.663T>C, NM_001349771.1:c.663T>C, NM_001349766.2:c.663T>C, NM_001349766.1:c.663T>C, NM_001349768.2:c.663T>C, NM_001349768.1:c.663T>C, NM_001349763.2:c.708T>C, NM_001349763.1:c.708T>C, NM_001349761.2:c.819T>C, NM_001349761.1:c.819T>C, NM_001349759.2:c.702T>C, NM_001349759.1:c.702T>C, NM_001349757.2:c.921T>C, NM_001349757.1:c.921T>C, NM_001349764.2:c.708T>C, NM_001349764.1:c.708T>C, NM_001349765.2:c.708T>C, NM_001349765.1:c.708T>C, NM_001349762.2:c.819T>C, NM_001349762.1:c.819T>C, XM_047423900.1:c.702T>C, NR_037185.1:n.1586T>C

                      11.

                      rs1451856697 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        1:108699280 (GRCh38)
                        1:109241902 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:108699279:C:G,NC_000001.11:108699279:C:T
                        Gene:
                        PRPF38B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00034/1 (KOREAN)
                        HGVS:
                        NC_000001.11:g.108699280C>G, NC_000001.11:g.108699280C>T, NC_000001.10:g.109241902C>G, NC_000001.10:g.109241902C>T, NM_018061.4:c.901C>G, NM_018061.4:c.901C>T, NM_018061.3:c.901C>G, NM_018061.3:c.901C>T, NM_018061.2:c.901C>G, NM_018061.2:c.901C>T, NM_001349767.2:c.310C>G, NM_001349767.2:c.310C>T, NM_001349767.1:c.310C>G, NM_001349767.1:c.310C>T, NM_001349769.2:c.310C>G, NM_001349769.2:c.310C>T, NM_001349769.1:c.310C>G, NM_001349769.1:c.310C>T, NM_001349770.2:c.310C>G, NM_001349770.2:c.310C>T, NM_001349770.1:c.310C>G, NM_001349770.1:c.310C>T, NM_001349758.2:c.349C>G, NM_001349758.2:c.349C>T, NM_001349758.1:c.349C>G, NM_001349758.1:c.349C>T, NM_001349771.2:c.310C>G, NM_001349771.2:c.310C>T, NM_001349771.1:c.310C>G, NM_001349771.1:c.310C>T, NM_001349766.2:c.310C>G, NM_001349766.2:c.310C>T, NM_001349766.1:c.310C>G, NM_001349766.1:c.310C>T, NM_001349768.2:c.310C>G, NM_001349768.2:c.310C>T, NM_001349768.1:c.310C>G, NM_001349768.1:c.310C>T, NM_001349763.2:c.355C>G, NM_001349763.2:c.355C>T, NM_001349763.1:c.355C>G, NM_001349763.1:c.355C>T, NM_001349761.2:c.466C>G, NM_001349761.2:c.466C>T, NM_001349761.1:c.466C>G, NM_001349761.1:c.466C>T, NM_001349759.2:c.349C>G, NM_001349759.2:c.349C>T, NM_001349759.1:c.349C>G, NM_001349759.1:c.349C>T, NM_001349757.2:c.568C>G, NM_001349757.2:c.568C>T, NM_001349757.1:c.568C>G, NM_001349757.1:c.568C>T, NM_001349764.2:c.355C>G, NM_001349764.2:c.355C>T, NM_001349764.1:c.355C>G, NM_001349764.1:c.355C>T, NM_001349765.2:c.355C>G, NM_001349765.2:c.355C>T, NM_001349765.1:c.355C>G, NM_001349765.1:c.355C>T, NM_001349762.2:c.466C>G, NM_001349762.2:c.466C>T, NM_001349762.1:c.466C>G, NM_001349762.1:c.466C>T, XM_047423900.1:c.349C>G, XM_047423900.1:c.349C>T, NR_037185.1:n.1233C>G, NR_037185.1:n.1233C>T, NP_060531.2:p.Arg301Gly, NP_060531.2:p.Arg301Cys, NP_001336696.1:p.Arg104Gly, NP_001336696.1:p.Arg104Cys, NP_001336698.1:p.Arg104Gly, NP_001336698.1:p.Arg104Cys, NP_001336699.1:p.Arg104Gly, NP_001336699.1:p.Arg104Cys, NP_001336687.1:p.Arg117Gly, NP_001336687.1:p.Arg117Cys, NP_001336700.1:p.Arg104Gly, NP_001336700.1:p.Arg104Cys, NP_001336695.1:p.Arg104Gly, NP_001336695.1:p.Arg104Cys, NP_001336697.1:p.Arg104Gly, NP_001336697.1:p.Arg104Cys, NP_001336692.1:p.Arg119Gly, NP_001336692.1:p.Arg119Cys, NP_001336690.1:p.Arg156Gly, NP_001336690.1:p.Arg156Cys, NP_001336688.1:p.Arg117Gly, NP_001336688.1:p.Arg117Cys, NP_001336686.1:p.Arg190Gly, NP_001336686.1:p.Arg190Cys, NP_001336693.1:p.Arg119Gly, NP_001336693.1:p.Arg119Cys, NP_001336694.1:p.Arg119Gly, NP_001336694.1:p.Arg119Cys, NP_001336691.1:p.Arg156Gly, NP_001336691.1:p.Arg156Cys, XP_047279856.1:p.Arg117Gly, XP_047279856.1:p.Arg117Cys

                        12.

                        rs1449458182 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:108699187 (GRCh38)
                          1:109241809 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:108699186:C:T
                          Gene:
                          PRPF38B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000071/1 (TOMMO)
                          HGVS:
                          NC_000001.11:g.108699187C>T, NC_000001.10:g.109241809C>T, NM_018061.4:c.808C>T, NM_018061.3:c.808C>T, NM_018061.2:c.808C>T, NM_001349767.2:c.217C>T, NM_001349767.1:c.217C>T, NM_001349769.2:c.217C>T, NM_001349769.1:c.217C>T, NM_001349770.2:c.217C>T, NM_001349770.1:c.217C>T, NM_001349758.2:c.256C>T, NM_001349758.1:c.256C>T, NM_001349771.2:c.217C>T, NM_001349771.1:c.217C>T, NM_001349766.2:c.217C>T, NM_001349766.1:c.217C>T, NM_001349768.2:c.217C>T, NM_001349768.1:c.217C>T, NM_001349763.2:c.262C>T, NM_001349763.1:c.262C>T, NM_001349761.2:c.373C>T, NM_001349761.1:c.373C>T, NM_001349759.2:c.256C>T, NM_001349759.1:c.256C>T, NM_001349757.2:c.475C>T, NM_001349757.1:c.475C>T, NM_001349764.2:c.262C>T, NM_001349764.1:c.262C>T, NM_001349765.2:c.262C>T, NM_001349765.1:c.262C>T, NM_001349762.2:c.373C>T, NM_001349762.1:c.373C>T, XM_047423900.1:c.256C>T, NR_037185.1:n.1140C>T, NP_060531.2:p.Arg270Trp, NP_001336696.1:p.Arg73Trp, NP_001336698.1:p.Arg73Trp, NP_001336699.1:p.Arg73Trp, NP_001336687.1:p.Arg86Trp, NP_001336700.1:p.Arg73Trp, NP_001336695.1:p.Arg73Trp, NP_001336697.1:p.Arg73Trp, NP_001336692.1:p.Arg88Trp, NP_001336690.1:p.Arg125Trp, NP_001336688.1:p.Arg86Trp, NP_001336686.1:p.Arg159Trp, NP_001336693.1:p.Arg88Trp, NP_001336694.1:p.Arg88Trp, NP_001336691.1:p.Arg125Trp, XP_047279856.1:p.Arg86Trp

                          13.

                          rs1448451383 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:108699969 (GRCh38)
                            1:109242591 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:108699968:A:G
                            Gene:
                            PRPF38B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.108699969A>G, NC_000001.10:g.109242591A>G, NM_018061.4:c.1590A>G, NM_018061.3:c.1590A>G, NM_018061.2:c.1590A>G, NM_001349767.2:c.999A>G, NM_001349767.1:c.999A>G, NM_001349769.2:c.999A>G, NM_001349769.1:c.999A>G, NM_001349770.2:c.999A>G, NM_001349770.1:c.999A>G, NM_001349758.2:c.1038A>G, NM_001349758.1:c.1038A>G, NM_001349771.2:c.999A>G, NM_001349771.1:c.999A>G, NM_001349766.2:c.999A>G, NM_001349766.1:c.999A>G, NM_001349768.2:c.999A>G, NM_001349768.1:c.999A>G, NM_001349763.2:c.1044A>G, NM_001349763.1:c.1044A>G, NM_001349761.2:c.1155A>G, NM_001349761.1:c.1155A>G, NM_001349759.2:c.1038A>G, NM_001349759.1:c.1038A>G, NM_001349757.2:c.1257A>G, NM_001349757.1:c.1257A>G, NM_001349764.2:c.1044A>G, NM_001349764.1:c.1044A>G, NM_001349765.2:c.1044A>G, NM_001349765.1:c.1044A>G, NM_001349762.2:c.1155A>G, NM_001349762.1:c.1155A>G, XM_047423900.1:c.1038A>G, NR_037185.1:n.1922A>G, NP_060531.2:p.Ile530Met, NP_001336696.1:p.Ile333Met, NP_001336698.1:p.Ile333Met, NP_001336699.1:p.Ile333Met, NP_001336687.1:p.Ile346Met, NP_001336700.1:p.Ile333Met, NP_001336695.1:p.Ile333Met, NP_001336697.1:p.Ile333Met, NP_001336692.1:p.Ile348Met, NP_001336690.1:p.Ile385Met, NP_001336688.1:p.Ile346Met, NP_001336686.1:p.Ile419Met, NP_001336693.1:p.Ile348Met, NP_001336694.1:p.Ile348Met, NP_001336691.1:p.Ile385Met, XP_047279856.1:p.Ile346Met

                            14.

                            rs1443473542 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:108699507 (GRCh38)
                              1:109242129 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:108699506:T:C
                              Gene:
                              PRPF38B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.108699507T>C, NC_000001.10:g.109242129T>C, NM_018061.4:c.1128T>C, NM_018061.3:c.1128T>C, NM_018061.2:c.1128T>C, NM_001349767.2:c.537T>C, NM_001349767.1:c.537T>C, NM_001349769.2:c.537T>C, NM_001349769.1:c.537T>C, NM_001349770.2:c.537T>C, NM_001349770.1:c.537T>C, NM_001349758.2:c.576T>C, NM_001349758.1:c.576T>C, NM_001349771.2:c.537T>C, NM_001349771.1:c.537T>C, NM_001349766.2:c.537T>C, NM_001349766.1:c.537T>C, NM_001349768.2:c.537T>C, NM_001349768.1:c.537T>C, NM_001349763.2:c.582T>C, NM_001349763.1:c.582T>C, NM_001349761.2:c.693T>C, NM_001349761.1:c.693T>C, NM_001349759.2:c.576T>C, NM_001349759.1:c.576T>C, NM_001349757.2:c.795T>C, NM_001349757.1:c.795T>C, NM_001349764.2:c.582T>C, NM_001349764.1:c.582T>C, NM_001349765.2:c.582T>C, NM_001349765.1:c.582T>C, NM_001349762.2:c.693T>C, NM_001349762.1:c.693T>C, XM_047423900.1:c.576T>C, NR_037185.1:n.1460T>C

                              15.

                              rs1439468877 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:108699913 (GRCh38)
                                1:109242535 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:108699912:C:G
                                Gene:
                                PRPF38B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000001.11:g.108699913C>G, NC_000001.10:g.109242535C>G, NM_018061.4:c.1534C>G, NM_018061.3:c.1534C>G, NM_018061.2:c.1534C>G, NM_001349767.2:c.943C>G, NM_001349767.1:c.943C>G, NM_001349769.2:c.943C>G, NM_001349769.1:c.943C>G, NM_001349770.2:c.943C>G, NM_001349770.1:c.943C>G, NM_001349758.2:c.982C>G, NM_001349758.1:c.982C>G, NM_001349771.2:c.943C>G, NM_001349771.1:c.943C>G, NM_001349766.2:c.943C>G, NM_001349766.1:c.943C>G, NM_001349768.2:c.943C>G, NM_001349768.1:c.943C>G, NM_001349763.2:c.988C>G, NM_001349763.1:c.988C>G, NM_001349761.2:c.1099C>G, NM_001349761.1:c.1099C>G, NM_001349759.2:c.982C>G, NM_001349759.1:c.982C>G, NM_001349757.2:c.1201C>G, NM_001349757.1:c.1201C>G, NM_001349764.2:c.988C>G, NM_001349764.1:c.988C>G, NM_001349765.2:c.988C>G, NM_001349765.1:c.988C>G, NM_001349762.2:c.1099C>G, NM_001349762.1:c.1099C>G, XM_047423900.1:c.982C>G, NR_037185.1:n.1866C>G, NP_060531.2:p.His512Asp, NP_001336696.1:p.His315Asp, NP_001336698.1:p.His315Asp, NP_001336699.1:p.His315Asp, NP_001336687.1:p.His328Asp, NP_001336700.1:p.His315Asp, NP_001336695.1:p.His315Asp, NP_001336697.1:p.His315Asp, NP_001336692.1:p.His330Asp, NP_001336690.1:p.His367Asp, NP_001336688.1:p.His328Asp, NP_001336686.1:p.His401Asp, NP_001336693.1:p.His330Asp, NP_001336694.1:p.His330Asp, NP_001336691.1:p.His367Asp, XP_047279856.1:p.His328Asp

                                16.

                                rs1437326371 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:108699541 (GRCh38)
                                  1:109242163 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:108699540:A:G
                                  Gene:
                                  PRPF38B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.108699541A>G, NC_000001.10:g.109242163A>G, NM_018061.4:c.1162A>G, NM_018061.3:c.1162A>G, NM_018061.2:c.1162A>G, NM_001349767.2:c.571A>G, NM_001349767.1:c.571A>G, NM_001349769.2:c.571A>G, NM_001349769.1:c.571A>G, NM_001349770.2:c.571A>G, NM_001349770.1:c.571A>G, NM_001349758.2:c.610A>G, NM_001349758.1:c.610A>G, NM_001349771.2:c.571A>G, NM_001349771.1:c.571A>G, NM_001349766.2:c.571A>G, NM_001349766.1:c.571A>G, NM_001349768.2:c.571A>G, NM_001349768.1:c.571A>G, NM_001349763.2:c.616A>G, NM_001349763.1:c.616A>G, NM_001349761.2:c.727A>G, NM_001349761.1:c.727A>G, NM_001349759.2:c.610A>G, NM_001349759.1:c.610A>G, NM_001349757.2:c.829A>G, NM_001349757.1:c.829A>G, NM_001349764.2:c.616A>G, NM_001349764.1:c.616A>G, NM_001349765.2:c.616A>G, NM_001349765.1:c.616A>G, NM_001349762.2:c.727A>G, NM_001349762.1:c.727A>G, XM_047423900.1:c.610A>G, NR_037185.1:n.1494A>G, NP_060531.2:p.Arg388Gly, NP_001336696.1:p.Arg191Gly, NP_001336698.1:p.Arg191Gly, NP_001336699.1:p.Arg191Gly, NP_001336687.1:p.Arg204Gly, NP_001336700.1:p.Arg191Gly, NP_001336695.1:p.Arg191Gly, NP_001336697.1:p.Arg191Gly, NP_001336692.1:p.Arg206Gly, NP_001336690.1:p.Arg243Gly, NP_001336688.1:p.Arg204Gly, NP_001336686.1:p.Arg277Gly, NP_001336693.1:p.Arg206Gly, NP_001336694.1:p.Arg206Gly, NP_001336691.1:p.Arg243Gly, XP_047279856.1:p.Arg204Gly

                                  17.

                                  rs1432788670 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    1:108699817 (GRCh38)
                                    1:109242439 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:108699816:G:C
                                    Gene:
                                    PRPF38B (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.108699817G>C, NC_000001.10:g.109242439G>C, NM_018061.4:c.1438G>C, NM_018061.3:c.1438G>C, NM_018061.2:c.1438G>C, NM_001349767.2:c.847G>C, NM_001349767.1:c.847G>C, NM_001349769.2:c.847G>C, NM_001349769.1:c.847G>C, NM_001349770.2:c.847G>C, NM_001349770.1:c.847G>C, NM_001349758.2:c.886G>C, NM_001349758.1:c.886G>C, NM_001349771.2:c.847G>C, NM_001349771.1:c.847G>C, NM_001349766.2:c.847G>C, NM_001349766.1:c.847G>C, NM_001349768.2:c.847G>C, NM_001349768.1:c.847G>C, NM_001349763.2:c.892G>C, NM_001349763.1:c.892G>C, NM_001349761.2:c.1003G>C, NM_001349761.1:c.1003G>C, NM_001349759.2:c.886G>C, NM_001349759.1:c.886G>C, NM_001349757.2:c.1105G>C, NM_001349757.1:c.1105G>C, NM_001349764.2:c.892G>C, NM_001349764.1:c.892G>C, NM_001349765.2:c.892G>C, NM_001349765.1:c.892G>C, NM_001349762.2:c.1003G>C, NM_001349762.1:c.1003G>C, XM_047423900.1:c.886G>C, NR_037185.1:n.1770G>C, NP_060531.2:p.Asp480His, NP_001336696.1:p.Asp283His, NP_001336698.1:p.Asp283His, NP_001336699.1:p.Asp283His, NP_001336687.1:p.Asp296His, NP_001336700.1:p.Asp283His, NP_001336695.1:p.Asp283His, NP_001336697.1:p.Asp283His, NP_001336692.1:p.Asp298His, NP_001336690.1:p.Asp335His, NP_001336688.1:p.Asp296His, NP_001336686.1:p.Asp369His, NP_001336693.1:p.Asp298His, NP_001336694.1:p.Asp298His, NP_001336691.1:p.Asp335His, XP_047279856.1:p.Asp296His

                                    18.

                                    rs1431946428 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:108699260 (GRCh38)
                                      1:109241882 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:108699259:A:G
                                      Gene:
                                      PRPF38B (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000047/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.108699260A>G, NC_000001.10:g.109241882A>G, NM_018061.4:c.881A>G, NM_018061.3:c.881A>G, NM_018061.2:c.881A>G, NM_001349767.2:c.290A>G, NM_001349767.1:c.290A>G, NM_001349769.2:c.290A>G, NM_001349769.1:c.290A>G, NM_001349770.2:c.290A>G, NM_001349770.1:c.290A>G, NM_001349758.2:c.329A>G, NM_001349758.1:c.329A>G, NM_001349771.2:c.290A>G, NM_001349771.1:c.290A>G, NM_001349766.2:c.290A>G, NM_001349766.1:c.290A>G, NM_001349768.2:c.290A>G, NM_001349768.1:c.290A>G, NM_001349763.2:c.335A>G, NM_001349763.1:c.335A>G, NM_001349761.2:c.446A>G, NM_001349761.1:c.446A>G, NM_001349759.2:c.329A>G, NM_001349759.1:c.329A>G, NM_001349757.2:c.548A>G, NM_001349757.1:c.548A>G, NM_001349764.2:c.335A>G, NM_001349764.1:c.335A>G, NM_001349765.2:c.335A>G, NM_001349765.1:c.335A>G, NM_001349762.2:c.446A>G, NM_001349762.1:c.446A>G, XM_047423900.1:c.329A>G, NR_037185.1:n.1213A>G, NP_060531.2:p.Glu294Gly, NP_001336696.1:p.Glu97Gly, NP_001336698.1:p.Glu97Gly, NP_001336699.1:p.Glu97Gly, NP_001336687.1:p.Glu110Gly, NP_001336700.1:p.Glu97Gly, NP_001336695.1:p.Glu97Gly, NP_001336697.1:p.Glu97Gly, NP_001336692.1:p.Glu112Gly, NP_001336690.1:p.Glu149Gly, NP_001336688.1:p.Glu110Gly, NP_001336686.1:p.Glu183Gly, NP_001336693.1:p.Glu112Gly, NP_001336694.1:p.Glu112Gly, NP_001336691.1:p.Glu149Gly, XP_047279856.1:p.Glu110Gly

                                      19.

                                      rs1426160916 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:108699871 (GRCh38)
                                        1:109242493 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:108699870:A:G
                                        Gene:
                                        PRPF38B (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.108699871A>G, NC_000001.10:g.109242493A>G, NM_018061.4:c.1492A>G, NM_018061.3:c.1492A>G, NM_018061.2:c.1492A>G, NM_001349767.2:c.901A>G, NM_001349767.1:c.901A>G, NM_001349769.2:c.901A>G, NM_001349769.1:c.901A>G, NM_001349770.2:c.901A>G, NM_001349770.1:c.901A>G, NM_001349758.2:c.940A>G, NM_001349758.1:c.940A>G, NM_001349771.2:c.901A>G, NM_001349771.1:c.901A>G, NM_001349766.2:c.901A>G, NM_001349766.1:c.901A>G, NM_001349768.2:c.901A>G, NM_001349768.1:c.901A>G, NM_001349763.2:c.946A>G, NM_001349763.1:c.946A>G, NM_001349761.2:c.1057A>G, NM_001349761.1:c.1057A>G, NM_001349759.2:c.940A>G, NM_001349759.1:c.940A>G, NM_001349757.2:c.1159A>G, NM_001349757.1:c.1159A>G, NM_001349764.2:c.946A>G, NM_001349764.1:c.946A>G, NM_001349765.2:c.946A>G, NM_001349765.1:c.946A>G, NM_001349762.2:c.1057A>G, NM_001349762.1:c.1057A>G, XM_047423900.1:c.940A>G, NR_037185.1:n.1824A>G, NP_060531.2:p.Arg498Gly, NP_001336696.1:p.Arg301Gly, NP_001336698.1:p.Arg301Gly, NP_001336699.1:p.Arg301Gly, NP_001336687.1:p.Arg314Gly, NP_001336700.1:p.Arg301Gly, NP_001336695.1:p.Arg301Gly, NP_001336697.1:p.Arg301Gly, NP_001336692.1:p.Arg316Gly, NP_001336690.1:p.Arg353Gly, NP_001336688.1:p.Arg314Gly, NP_001336686.1:p.Arg387Gly, NP_001336693.1:p.Arg316Gly, NP_001336694.1:p.Arg316Gly, NP_001336691.1:p.Arg353Gly, XP_047279856.1:p.Arg314Gly

                                        20.

                                        rs1424950648 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          1:108699272 (GRCh38)
                                          1:109241894 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:108699271:A:T
                                          Gene:
                                          PRPF38B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.108699272A>T, NC_000001.10:g.109241894A>T, NM_018061.4:c.893A>T, NM_018061.3:c.893A>T, NM_018061.2:c.893A>T, NM_001349767.2:c.302A>T, NM_001349767.1:c.302A>T, NM_001349769.2:c.302A>T, NM_001349769.1:c.302A>T, NM_001349770.2:c.302A>T, NM_001349770.1:c.302A>T, NM_001349758.2:c.341A>T, NM_001349758.1:c.341A>T, NM_001349771.2:c.302A>T, NM_001349771.1:c.302A>T, NM_001349766.2:c.302A>T, NM_001349766.1:c.302A>T, NM_001349768.2:c.302A>T, NM_001349768.1:c.302A>T, NM_001349763.2:c.347A>T, NM_001349763.1:c.347A>T, NM_001349761.2:c.458A>T, NM_001349761.1:c.458A>T, NM_001349759.2:c.341A>T, NM_001349759.1:c.341A>T, NM_001349757.2:c.560A>T, NM_001349757.1:c.560A>T, NM_001349764.2:c.347A>T, NM_001349764.1:c.347A>T, NM_001349765.2:c.347A>T, NM_001349765.1:c.347A>T, NM_001349762.2:c.458A>T, NM_001349762.1:c.458A>T, XM_047423900.1:c.341A>T, NR_037185.1:n.1225A>T, NP_060531.2:p.Glu298Val, NP_001336696.1:p.Glu101Val, NP_001336698.1:p.Glu101Val, NP_001336699.1:p.Glu101Val, NP_001336687.1:p.Glu114Val, NP_001336700.1:p.Glu101Val, NP_001336695.1:p.Glu101Val, NP_001336697.1:p.Glu101Val, NP_001336692.1:p.Glu116Val, NP_001336690.1:p.Glu153Val, NP_001336688.1:p.Glu114Val, NP_001336686.1:p.Glu187Val, NP_001336693.1:p.Glu116Val, NP_001336694.1:p.Glu116Val, NP_001336691.1:p.Glu153Val, XP_047279856.1:p.Glu114Val

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