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Items: 1 to 20 of 386

1.

rs1486451553 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:70228538 (GRCh38)
    1:70694221 (GRCh37)
    Canonical SPDI:
    NC_000001.11:70228537:T:C
    Gene:
    SRSF11 (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.70228538T>C, NC_000001.10:g.70694221T>C, NM_004768.5:c.320T>C, NM_004768.4:c.320T>C, NM_004768.3:c.320T>C, NM_001190987.3:c.320T>C, NM_001190987.2:c.320T>C, NM_001190987.1:c.320T>C, NM_001350615.2:c.-251T>C, NM_001350615.1:c.-251T>C, NM_001350612.2:c.-477T>C, NM_001350612.1:c.-477T>C, NM_001350614.2:c.-477T>C, NM_001350614.1:c.-477T>C, NM_001350610.2:c.-368T>C, NM_001350610.1:c.-368T>C, NM_001350611.2:c.-368T>C, NM_001350611.1:c.-368T>C, NM_001350613.2:c.-368T>C, NM_001350613.1:c.-368T>C, NM_001350616.2:c.-368T>C, NM_001350616.1:c.-368T>C, NR_146810.2:n.577T>C, NR_146810.1:n.606T>C, NM_001350605.2:c.320T>C, NM_001350605.1:c.320T>C, NM_001350608.2:c.320T>C, NM_001350608.1:c.320T>C, NM_001350609.2:c.320T>C, NM_001350609.1:c.320T>C, NM_001350607.2:c.320T>C, NM_001350607.1:c.320T>C, NM_001350606.2:c.320T>C, NM_001350606.1:c.320T>C, XM_047434514.1:c.320T>C, XM_047434518.1:c.320T>C, XM_047434523.1:c.320T>C, XM_047434524.1:c.320T>C, XM_047434516.1:c.320T>C, XM_047434517.1:c.320T>C, XM_047434541.1:c.320T>C, NM_001394403.1:c.353T>C, NM_001394405.1:c.320T>C, NM_001394408.1:c.320T>C, NM_001394402.1:c.353T>C, XM_047434522.1:c.320T>C, NM_001394404.1:c.320T>C, NM_001394406.1:c.320T>C, NM_001394407.1:c.320T>C, NP_004759.1:p.Val107Ala, NP_001177916.1:p.Val107Ala, NP_001337534.1:p.Val107Ala, NP_001337537.1:p.Val107Ala, NP_001337538.1:p.Val107Ala, NP_001337536.1:p.Val107Ala, NP_001337535.1:p.Val107Ala, XP_047290470.1:p.Val107Ala, XP_047290474.1:p.Val107Ala, XP_047290479.1:p.Val107Ala, XP_047290480.1:p.Val107Ala, XP_047290472.1:p.Val107Ala, XP_047290473.1:p.Val107Ala, XP_047290497.1:p.Val107Ala, NP_001381332.1:p.Val118Ala, NP_001381334.1:p.Val107Ala, NP_001381337.1:p.Val107Ala, NP_001381331.1:p.Val118Ala, XP_047290478.1:p.Val107Ala, NP_001381333.1:p.Val107Ala, NP_001381335.1:p.Val107Ala, NP_001381336.1:p.Val107Ala

    2.

    rs1485357261 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:70228543 (GRCh38)
      1:70694226 (GRCh37)
      Canonical SPDI:
      NC_000001.11:70228542:C:T
      Gene:
      SRSF11 (Varview)
      Functional Consequence:
      coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000047/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.70228543C>T, NC_000001.10:g.70694226C>T, NM_004768.5:c.325C>T, NM_004768.4:c.325C>T, NM_004768.3:c.325C>T, NM_001190987.3:c.325C>T, NM_001190987.2:c.325C>T, NM_001190987.1:c.325C>T, NM_001350615.2:c.-246C>T, NM_001350615.1:c.-246C>T, NM_001350612.2:c.-472C>T, NM_001350612.1:c.-472C>T, NM_001350614.2:c.-472C>T, NM_001350614.1:c.-472C>T, NM_001350610.2:c.-363C>T, NM_001350610.1:c.-363C>T, NM_001350611.2:c.-363C>T, NM_001350611.1:c.-363C>T, NM_001350613.2:c.-363C>T, NM_001350613.1:c.-363C>T, NM_001350616.2:c.-363C>T, NM_001350616.1:c.-363C>T, NR_146810.2:n.582C>T, NR_146810.1:n.611C>T, NM_001350605.2:c.325C>T, NM_001350605.1:c.325C>T, NM_001350608.2:c.325C>T, NM_001350608.1:c.325C>T, NM_001350609.2:c.325C>T, NM_001350609.1:c.325C>T, NM_001350607.2:c.325C>T, NM_001350607.1:c.325C>T, NM_001350606.2:c.325C>T, NM_001350606.1:c.325C>T, XM_047434514.1:c.325C>T, XM_047434518.1:c.325C>T, XM_047434523.1:c.325C>T, XM_047434524.1:c.325C>T, XM_047434516.1:c.325C>T, XM_047434517.1:c.325C>T, XM_047434541.1:c.325C>T, NM_001394403.1:c.358C>T, NM_001394405.1:c.325C>T, NM_001394408.1:c.325C>T, NM_001394402.1:c.358C>T, XM_047434522.1:c.325C>T, NM_001394404.1:c.325C>T, NM_001394406.1:c.325C>T, NM_001394407.1:c.325C>T, NP_004759.1:p.Pro109Ser, NP_001177916.1:p.Pro109Ser, NP_001337534.1:p.Pro109Ser, NP_001337537.1:p.Pro109Ser, NP_001337538.1:p.Pro109Ser, NP_001337536.1:p.Pro109Ser, NP_001337535.1:p.Pro109Ser, XP_047290470.1:p.Pro109Ser, XP_047290474.1:p.Pro109Ser, XP_047290479.1:p.Pro109Ser, XP_047290480.1:p.Pro109Ser, XP_047290472.1:p.Pro109Ser, XP_047290473.1:p.Pro109Ser, XP_047290497.1:p.Pro109Ser, NP_001381332.1:p.Pro120Ser, NP_001381334.1:p.Pro109Ser, NP_001381337.1:p.Pro109Ser, NP_001381331.1:p.Pro120Ser, XP_047290478.1:p.Pro109Ser, NP_001381333.1:p.Pro109Ser, NP_001381335.1:p.Pro109Ser, NP_001381336.1:p.Pro109Ser

      3.

      rs1483618874 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:70221798 (GRCh38)
        1:70687481 (GRCh37)
        Canonical SPDI:
        NC_000001.11:70221797:T:C
        Gene:
        SRSF11 (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        C=0.000142/2 (TOMMO)
        HGVS:
        NC_000001.11:g.70221798T>C, NC_000001.10:g.70687481T>C, NM_004768.5:c.162T>C, NM_004768.4:c.162T>C, NM_004768.3:c.162T>C, NM_001190987.3:c.162T>C, NM_001190987.2:c.162T>C, NM_001190987.1:c.162T>C, NM_001350615.2:c.-1368T>C, NM_001350615.1:c.-1368T>C, NM_001350612.2:c.-635T>C, NM_001350612.1:c.-635T>C, NM_001350614.2:c.-635T>C, NM_001350614.1:c.-635T>C, NM_001350610.2:c.-526T>C, NM_001350610.1:c.-526T>C, NM_001350611.2:c.-526T>C, NM_001350611.1:c.-526T>C, NM_001350613.2:c.-526T>C, NM_001350613.1:c.-526T>C, NM_001350616.2:c.-526T>C, NM_001350616.1:c.-526T>C, NR_146810.2:n.419T>C, NR_146810.1:n.448T>C, NM_001350605.2:c.162T>C, NM_001350605.1:c.162T>C, NM_001350608.2:c.162T>C, NM_001350608.1:c.162T>C, NM_001350609.2:c.162T>C, NM_001350609.1:c.162T>C, NM_001350607.2:c.162T>C, NM_001350607.1:c.162T>C, NM_001350606.2:c.162T>C, NM_001350606.1:c.162T>C, XM_047434514.1:c.162T>C, XM_047434518.1:c.162T>C, XM_047434523.1:c.162T>C, XM_047434524.1:c.162T>C, XM_047434516.1:c.162T>C, XM_047434517.1:c.162T>C, XM_047434541.1:c.162T>C, NM_001394403.1:c.162T>C, NM_001394405.1:c.162T>C, NM_001394408.1:c.162T>C, NM_001394402.1:c.162T>C, XM_047434522.1:c.162T>C, NM_001394404.1:c.162T>C, NM_001394406.1:c.162T>C, NM_001394407.1:c.162T>C

        4.

        rs1481153233 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          1:70232332 (GRCh38)
          1:70698015 (GRCh37)
          Canonical SPDI:
          NC_000001.11:70232331:T:A
          Gene:
          SRSF11 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.70232332T>A, NC_000001.10:g.70698015T>A, NM_004768.5:c.402T>A, NM_004768.4:c.402T>A, NM_004768.3:c.402T>A, NM_001190987.3:c.402T>A, NM_001190987.2:c.402T>A, NM_001190987.1:c.402T>A, NM_001350615.2:c.-169T>A, NM_001350615.1:c.-169T>A, XM_024450906.2:c.222T>A, XM_024450906.1:c.222T>A, NM_001350612.2:c.-169T>A, NM_001350612.1:c.-169T>A, NM_001350614.2:c.-169T>A, NM_001350614.1:c.-169T>A, NM_001350610.2:c.-169T>A, NM_001350610.1:c.-169T>A, NM_001350611.2:c.-169T>A, NM_001350611.1:c.-169T>A, NM_001350613.2:c.-169T>A, NM_001350613.1:c.-169T>A, NM_001350616.2:c.-169T>A, NM_001350616.1:c.-169T>A, NR_146810.2:n.659T>A, NR_146810.1:n.688T>A, NM_001350605.2:c.402T>A, NM_001350605.1:c.402T>A, NM_001350608.2:c.402T>A, NM_001350608.1:c.402T>A, NM_001350609.2:c.402T>A, NM_001350609.1:c.402T>A, NM_001350607.2:c.402T>A, NM_001350607.1:c.402T>A, NM_001350606.2:c.402T>A, NM_001350606.1:c.402T>A, XM_047434514.1:c.402T>A, XM_047434518.1:c.402T>A, XM_047434523.1:c.402T>A, XM_047434524.1:c.402T>A, XM_047434516.1:c.402T>A, XM_047434517.1:c.402T>A, XM_047434541.1:c.402T>A, XM_047434536.1:c.222T>A, NM_001394403.1:c.435T>A, NM_001394405.1:c.402T>A, NM_001394408.1:c.402T>A, NM_001394402.1:c.435T>A, XM_047434522.1:c.402T>A, NM_001394404.1:c.402T>A, NM_001394406.1:c.402T>A, NM_001394407.1:c.402T>A

          5.

          rs1479479357 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            1:70250618 (GRCh38)
            1:70716301 (GRCh37)
            Canonical SPDI:
            NC_000001.11:70250617:G:T
            Gene:
            SRSF11 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            HGVS:
            NC_000001.11:g.70250618G>T, NC_000001.10:g.70716301G>T, NM_004768.5:c.1268G>T, NM_004768.4:c.1268G>T, NM_004768.3:c.1268G>T, NM_001190987.3:c.1265G>T, NM_001190987.2:c.1265G>T, NM_001190987.1:c.1265G>T, NM_001350615.2:c.695G>T, NM_001350615.1:c.695G>T, XM_024450906.2:c.1109G>T, XM_024450906.1:c.1109G>T, NM_001350612.2:c.698G>T, NM_001350612.1:c.698G>T, NM_001350614.2:c.695G>T, NM_001350614.1:c.695G>T, NM_001350610.2:c.719G>T, NM_001350610.1:c.719G>T, NM_001350611.2:c.716G>T, NM_001350611.1:c.716G>T, NM_001350613.2:c.698G>T, NM_001350613.1:c.698G>T, NM_001350616.2:c.695G>T, NM_001350616.1:c.695G>T, NR_146810.2:n.1555G>T, NR_146810.1:n.1584G>T, NM_001350605.2:c.1268G>T, NM_001350605.1:c.1268G>T, NM_001350608.2:c.1289G>T, NM_001350608.1:c.1289G>T, NM_001350609.2:c.1286G>T, NM_001350609.1:c.1286G>T, NM_001350607.2:c.1265G>T, NM_001350607.1:c.1265G>T, NM_001350606.2:c.1268G>T, NM_001350606.1:c.1268G>T, XM_047434514.1:c.1289G>T, XM_047434518.1:c.1286G>T, XM_047434523.1:c.1268G>T, XM_047434524.1:c.1265G>T, XM_047434516.1:c.1289G>T, XM_047434517.1:c.1289G>T, XM_047434536.1:c.1088G>T, NM_001394403.1:c.1298G>T, NM_001394405.1:c.1286G>T, NM_001394408.1:c.1265G>T, NM_001394402.1:c.1298G>T, XM_047434522.1:c.1286G>T, NM_001394404.1:c.1289G>T, NM_001394406.1:c.1268G>T, NM_001394407.1:c.1265G>T, NP_004759.1:p.Arg423Leu, NP_001177916.1:p.Arg422Leu, NP_001337544.1:p.Arg232Leu, XP_024306674.1:p.Arg370Leu, NP_001337541.1:p.Arg233Leu, NP_001337543.1:p.Arg232Leu, NP_001337539.1:p.Arg240Leu, NP_001337540.1:p.Arg239Leu, NP_001337542.1:p.Arg233Leu, NP_001337545.1:p.Arg232Leu, NP_001337534.1:p.Arg423Leu, NP_001337537.1:p.Arg430Leu, NP_001337538.1:p.Arg429Leu, NP_001337536.1:p.Arg422Leu, NP_001337535.1:p.Arg423Leu, XP_047290470.1:p.Arg430Leu, XP_047290474.1:p.Arg429Leu, XP_047290479.1:p.Arg423Leu, XP_047290480.1:p.Arg422Leu, XP_047290472.1:p.Arg430Leu, XP_047290473.1:p.Arg430Leu, XP_047290492.1:p.Arg363Leu, NP_001381332.1:p.Arg433Leu, NP_001381334.1:p.Arg429Leu, NP_001381337.1:p.Arg422Leu, NP_001381331.1:p.Arg433Leu, XP_047290478.1:p.Arg429Leu, NP_001381333.1:p.Arg430Leu, NP_001381335.1:p.Arg423Leu, NP_001381336.1:p.Arg422Leu

            6.

            rs1477789567 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:70237473 (GRCh38)
              1:70703156 (GRCh37)
              Canonical SPDI:
              NC_000001.11:70237472:T:C
              Gene:
              SRSF11 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.70237473T>C, NC_000001.10:g.70703156T>C, NM_004768.5:c.639T>C, NM_004768.4:c.639T>C, NM_004768.3:c.639T>C, NM_001190987.3:c.639T>C, NM_001190987.2:c.639T>C, NM_001190987.1:c.639T>C, NM_001350615.2:c.69T>C, NM_001350615.1:c.69T>C, XM_024450906.2:c.459T>C, XM_024450906.1:c.459T>C, NM_001350612.2:c.69T>C, NM_001350612.1:c.69T>C, NM_001350614.2:c.69T>C, NM_001350614.1:c.69T>C, NM_001350610.2:c.69T>C, NM_001350610.1:c.69T>C, NM_001350611.2:c.69T>C, NM_001350611.1:c.69T>C, NM_001350613.2:c.69T>C, NM_001350613.1:c.69T>C, NM_001350616.2:c.69T>C, NM_001350616.1:c.69T>C, NR_146810.2:n.896T>C, NR_146810.1:n.925T>C, NM_001350605.2:c.639T>C, NM_001350605.1:c.639T>C, NM_001350608.2:c.639T>C, NM_001350608.1:c.639T>C, NM_001350609.2:c.639T>C, NM_001350609.1:c.639T>C, NM_001350607.2:c.639T>C, NM_001350607.1:c.639T>C, NM_001350606.2:c.639T>C, NM_001350606.1:c.639T>C, XM_047434514.1:c.639T>C, XM_047434518.1:c.639T>C, XM_047434523.1:c.639T>C, XM_047434524.1:c.639T>C, XM_047434516.1:c.639T>C, XM_047434517.1:c.639T>C, XM_047434541.1:c.639T>C, XM_047434536.1:c.459T>C, NM_001394403.1:c.672T>C, NM_001394405.1:c.639T>C, NM_001394408.1:c.639T>C, NM_001394402.1:c.672T>C, XM_047434522.1:c.639T>C, NM_001394404.1:c.639T>C, NM_001394406.1:c.639T>C, NM_001394407.1:c.639T>C

              7.

              rs1477480362 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:70246870 (GRCh38)
                1:70712553 (GRCh37)
                Canonical SPDI:
                NC_000001.11:70246869:A:C
                Gene:
                SRSF11 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.70246870A>C, NC_000001.10:g.70712553A>C, NM_004768.5:c.985A>C, NM_004768.4:c.985A>C, NM_004768.3:c.985A>C, NM_001190987.3:c.985A>C, NM_001190987.2:c.985A>C, NM_001190987.1:c.985A>C, NM_001350615.2:c.415A>C, NM_001350615.1:c.415A>C, XM_024450906.2:c.805A>C, XM_024450906.1:c.805A>C, NM_001350612.2:c.415A>C, NM_001350612.1:c.415A>C, NM_001350614.2:c.415A>C, NM_001350614.1:c.415A>C, NM_001350610.2:c.415A>C, NM_001350610.1:c.415A>C, NM_001350611.2:c.415A>C, NM_001350611.1:c.415A>C, NM_001350613.2:c.415A>C, NM_001350613.1:c.415A>C, NM_001350616.2:c.415A>C, NM_001350616.1:c.415A>C, NR_146810.2:n.1242A>C, NR_146810.1:n.1271A>C, NM_001350605.2:c.985A>C, NM_001350605.1:c.985A>C, NM_001350608.2:c.985A>C, NM_001350608.1:c.985A>C, NM_001350609.2:c.985A>C, NM_001350609.1:c.985A>C, NM_001350607.2:c.985A>C, NM_001350607.1:c.985A>C, NM_001350606.2:c.985A>C, NM_001350606.1:c.985A>C, XM_047434514.1:c.985A>C, XM_047434518.1:c.985A>C, XM_047434523.1:c.985A>C, XM_047434524.1:c.985A>C, XM_047434516.1:c.985A>C, XM_047434517.1:c.985A>C, XM_047434541.1:c.985A>C, XM_047434536.1:c.805A>C, NM_001394403.1:c.1018A>C, NM_001394405.1:c.985A>C, NM_001394408.1:c.985A>C, NM_001394402.1:c.1018A>C, XM_047434522.1:c.985A>C, NM_001394404.1:c.985A>C, NM_001394406.1:c.985A>C, NM_001394407.1:c.985A>C, NP_004759.1:p.Ser329Arg, NP_001177916.1:p.Ser329Arg, NP_001337544.1:p.Ser139Arg, XP_024306674.1:p.Ser269Arg, NP_001337541.1:p.Ser139Arg, NP_001337543.1:p.Ser139Arg, NP_001337539.1:p.Ser139Arg, NP_001337540.1:p.Ser139Arg, NP_001337542.1:p.Ser139Arg, NP_001337545.1:p.Ser139Arg, NP_001337534.1:p.Ser329Arg, NP_001337537.1:p.Ser329Arg, NP_001337538.1:p.Ser329Arg, NP_001337536.1:p.Ser329Arg, NP_001337535.1:p.Ser329Arg, XP_047290470.1:p.Ser329Arg, XP_047290474.1:p.Ser329Arg, XP_047290479.1:p.Ser329Arg, XP_047290480.1:p.Ser329Arg, XP_047290472.1:p.Ser329Arg, XP_047290473.1:p.Ser329Arg, XP_047290497.1:p.Ser329Arg, XP_047290492.1:p.Ser269Arg, NP_001381332.1:p.Ser340Arg, NP_001381334.1:p.Ser329Arg, NP_001381337.1:p.Ser329Arg, NP_001381331.1:p.Ser340Arg, XP_047290478.1:p.Ser329Arg, NP_001381333.1:p.Ser329Arg, NP_001381335.1:p.Ser329Arg, NP_001381336.1:p.Ser329Arg

                8.

                rs1477367258 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:70234726 (GRCh38)
                  1:70700409 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:70234725:G:A
                  Gene:
                  SRSF11 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                  HGVS:
                  NC_000001.11:g.70234726G>A, NC_000001.10:g.70700409G>A, NM_004768.5:c.478G>A, NM_004768.4:c.478G>A, NM_004768.3:c.478G>A, NM_001190987.3:c.478G>A, NM_001190987.2:c.478G>A, NM_001190987.1:c.478G>A, NM_001350615.2:c.-93G>A, NM_001350615.1:c.-93G>A, XM_024450906.2:c.298G>A, XM_024450906.1:c.298G>A, NM_001350612.2:c.-93G>A, NM_001350612.1:c.-93G>A, NM_001350614.2:c.-93G>A, NM_001350614.1:c.-93G>A, NM_001350610.2:c.-93G>A, NM_001350610.1:c.-93G>A, NM_001350611.2:c.-93G>A, NM_001350611.1:c.-93G>A, NM_001350613.2:c.-93G>A, NM_001350613.1:c.-93G>A, NM_001350616.2:c.-93G>A, NM_001350616.1:c.-93G>A, NR_146810.2:n.735G>A, NR_146810.1:n.764G>A, NM_001350605.2:c.478G>A, NM_001350605.1:c.478G>A, NM_001350608.2:c.478G>A, NM_001350608.1:c.478G>A, NM_001350609.2:c.478G>A, NM_001350609.1:c.478G>A, NM_001350607.2:c.478G>A, NM_001350607.1:c.478G>A, NM_001350606.2:c.478G>A, NM_001350606.1:c.478G>A, XM_047434514.1:c.478G>A, XM_047434518.1:c.478G>A, XM_047434523.1:c.478G>A, XM_047434524.1:c.478G>A, XM_047434516.1:c.478G>A, XM_047434517.1:c.478G>A, XM_047434541.1:c.478G>A, XM_047434536.1:c.298G>A, NM_001394403.1:c.511G>A, NM_001394405.1:c.478G>A, NM_001394408.1:c.478G>A, NM_001394402.1:c.511G>A, XM_047434522.1:c.478G>A, NM_001394404.1:c.478G>A, NM_001394406.1:c.478G>A, NM_001394407.1:c.478G>A, NP_004759.1:p.Ala160Thr, NP_001177916.1:p.Ala160Thr, XP_024306674.1:p.Ala100Thr, NP_001337534.1:p.Ala160Thr, NP_001337537.1:p.Ala160Thr, NP_001337538.1:p.Ala160Thr, NP_001337536.1:p.Ala160Thr, NP_001337535.1:p.Ala160Thr, XP_047290470.1:p.Ala160Thr, XP_047290474.1:p.Ala160Thr, XP_047290479.1:p.Ala160Thr, XP_047290480.1:p.Ala160Thr, XP_047290472.1:p.Ala160Thr, XP_047290473.1:p.Ala160Thr, XP_047290497.1:p.Ala160Thr, XP_047290492.1:p.Ala100Thr, NP_001381332.1:p.Ala171Thr, NP_001381334.1:p.Ala160Thr, NP_001381337.1:p.Ala160Thr, NP_001381331.1:p.Ala171Thr, XP_047290478.1:p.Ala160Thr, NP_001381333.1:p.Ala160Thr, NP_001381335.1:p.Ala160Thr, NP_001381336.1:p.Ala160Thr

                  9.

                  rs1477149713 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:70250380 (GRCh38)
                    1:70716063 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:70250379:G:C
                    Gene:
                    SRSF11 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.70250380G>C, NC_000001.10:g.70716063G>C, NM_004768.5:c.1134G>C, NM_004768.4:c.1134G>C, NM_004768.3:c.1134G>C, NM_001190987.3:c.1134G>C, NM_001190987.2:c.1134G>C, NM_001190987.1:c.1134G>C, NM_001350615.2:c.564G>C, NM_001350615.1:c.564G>C, XM_024450906.2:c.975G>C, XM_024450906.1:c.975G>C, NM_001350612.2:c.564G>C, NM_001350612.1:c.564G>C, NM_001350614.2:c.564G>C, NM_001350614.1:c.564G>C, NM_001350610.2:c.585G>C, NM_001350610.1:c.585G>C, NM_001350611.2:c.585G>C, NM_001350611.1:c.585G>C, NM_001350613.2:c.564G>C, NM_001350613.1:c.564G>C, NM_001350616.2:c.564G>C, NM_001350616.1:c.564G>C, NR_146810.2:n.1424G>C, NR_146810.1:n.1453G>C, NM_001350605.2:c.1134G>C, NM_001350605.1:c.1134G>C, NM_001350608.2:c.1155G>C, NM_001350608.1:c.1155G>C, NM_001350609.2:c.1155G>C, NM_001350609.1:c.1155G>C, NM_001350607.2:c.1134G>C, NM_001350607.1:c.1134G>C, NM_001350606.2:c.1134G>C, NM_001350606.1:c.1134G>C, XM_047434514.1:c.1155G>C, XM_047434518.1:c.1155G>C, XM_047434523.1:c.1134G>C, XM_047434524.1:c.1134G>C, XM_047434516.1:c.1155G>C, XM_047434517.1:c.1155G>C, XM_047434536.1:c.954G>C, NM_001394403.1:c.1167G>C, NM_001394405.1:c.1155G>C, NM_001394408.1:c.1134G>C, NM_001394402.1:c.1167G>C, XM_047434522.1:c.1155G>C, NM_001394404.1:c.1155G>C, NM_001394406.1:c.1134G>C, NM_001394407.1:c.1134G>C, NP_004759.1:p.Lys378Asn, NP_001177916.1:p.Lys378Asn, NP_001337544.1:p.Lys188Asn, XP_024306674.1:p.Lys325Asn, NP_001337541.1:p.Lys188Asn, NP_001337543.1:p.Lys188Asn, NP_001337539.1:p.Lys195Asn, NP_001337540.1:p.Lys195Asn, NP_001337542.1:p.Lys188Asn, NP_001337545.1:p.Lys188Asn, NP_001337534.1:p.Lys378Asn, NP_001337537.1:p.Lys385Asn, NP_001337538.1:p.Lys385Asn, NP_001337536.1:p.Lys378Asn, NP_001337535.1:p.Lys378Asn, XP_047290470.1:p.Lys385Asn, XP_047290474.1:p.Lys385Asn, XP_047290479.1:p.Lys378Asn, XP_047290480.1:p.Lys378Asn, XP_047290472.1:p.Lys385Asn, XP_047290473.1:p.Lys385Asn, XP_047290492.1:p.Lys318Asn, NP_001381332.1:p.Lys389Asn, NP_001381334.1:p.Lys385Asn, NP_001381337.1:p.Lys378Asn, NP_001381331.1:p.Lys389Asn, XP_047290478.1:p.Lys385Asn, NP_001381333.1:p.Lys385Asn, NP_001381335.1:p.Lys378Asn, NP_001381336.1:p.Lys378Asn

                    10.

                    rs1475436202 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      1:70228434 (GRCh38)
                      1:70694117 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:70228433:G:T
                      Gene:
                      SRSF11 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000047/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.70228434G>T, NC_000001.10:g.70694117G>T, NM_004768.5:c.216G>T, NM_004768.4:c.216G>T, NM_004768.3:c.216G>T, NM_001190987.3:c.216G>T, NM_001190987.2:c.216G>T, NM_001190987.1:c.216G>T, NM_001350615.2:c.-355G>T, NM_001350615.1:c.-355G>T, NM_001350612.2:c.-581G>T, NM_001350612.1:c.-581G>T, NM_001350614.2:c.-581G>T, NM_001350614.1:c.-581G>T, NM_001350610.2:c.-472G>T, NM_001350610.1:c.-472G>T, NM_001350611.2:c.-472G>T, NM_001350611.1:c.-472G>T, NM_001350613.2:c.-472G>T, NM_001350613.1:c.-472G>T, NM_001350616.2:c.-472G>T, NM_001350616.1:c.-472G>T, NR_146810.2:n.473G>T, NR_146810.1:n.502G>T, NM_001350605.2:c.216G>T, NM_001350605.1:c.216G>T, NM_001350608.2:c.216G>T, NM_001350608.1:c.216G>T, NM_001350609.2:c.216G>T, NM_001350609.1:c.216G>T, NM_001350607.2:c.216G>T, NM_001350607.1:c.216G>T, NM_001350606.2:c.216G>T, NM_001350606.1:c.216G>T, XM_047434514.1:c.216G>T, XM_047434518.1:c.216G>T, XM_047434523.1:c.216G>T, XM_047434524.1:c.216G>T, XM_047434516.1:c.216G>T, XM_047434517.1:c.216G>T, XM_047434541.1:c.216G>T, NM_001394403.1:c.249G>T, NM_001394405.1:c.216G>T, NM_001394408.1:c.216G>T, NM_001394402.1:c.249G>T, XM_047434522.1:c.216G>T, NM_001394404.1:c.216G>T, NM_001394406.1:c.216G>T, NM_001394407.1:c.216G>T, NP_004759.1:p.Leu72Phe, NP_001177916.1:p.Leu72Phe, NP_001337534.1:p.Leu72Phe, NP_001337537.1:p.Leu72Phe, NP_001337538.1:p.Leu72Phe, NP_001337536.1:p.Leu72Phe, NP_001337535.1:p.Leu72Phe, XP_047290470.1:p.Leu72Phe, XP_047290474.1:p.Leu72Phe, XP_047290479.1:p.Leu72Phe, XP_047290480.1:p.Leu72Phe, XP_047290472.1:p.Leu72Phe, XP_047290473.1:p.Leu72Phe, XP_047290497.1:p.Leu72Phe, NP_001381332.1:p.Leu83Phe, NP_001381334.1:p.Leu72Phe, NP_001381337.1:p.Leu72Phe, NP_001381331.1:p.Leu83Phe, XP_047290478.1:p.Leu72Phe, NP_001381333.1:p.Leu72Phe, NP_001381335.1:p.Leu72Phe, NP_001381336.1:p.Leu72Phe

                      11.

                      rs1473104016 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:70221717 (GRCh38)
                        1:70687400 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:70221716:C:T
                        Gene:
                        SRSF11 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.70221717C>T, NC_000001.10:g.70687400C>T, NM_004768.5:c.81C>T, NM_004768.4:c.81C>T, NM_004768.3:c.81C>T, NM_001190987.3:c.81C>T, NM_001190987.2:c.81C>T, NM_001190987.1:c.81C>T, NM_001350615.2:c.-1449C>T, NM_001350615.1:c.-1449C>T, NM_001350612.2:c.-716C>T, NM_001350612.1:c.-716C>T, NM_001350614.2:c.-716C>T, NM_001350614.1:c.-716C>T, NM_001350610.2:c.-607C>T, NM_001350610.1:c.-607C>T, NM_001350611.2:c.-607C>T, NM_001350611.1:c.-607C>T, NM_001350613.2:c.-607C>T, NM_001350613.1:c.-607C>T, NM_001350616.2:c.-607C>T, NM_001350616.1:c.-607C>T, NR_146810.2:n.338C>T, NR_146810.1:n.367C>T, NM_001350605.2:c.81C>T, NM_001350605.1:c.81C>T, NM_001350608.2:c.81C>T, NM_001350608.1:c.81C>T, NM_001350609.2:c.81C>T, NM_001350609.1:c.81C>T, NM_001350607.2:c.81C>T, NM_001350607.1:c.81C>T, NM_001350606.2:c.81C>T, NM_001350606.1:c.81C>T, XM_047434514.1:c.81C>T, XM_047434518.1:c.81C>T, XM_047434523.1:c.81C>T, XM_047434524.1:c.81C>T, XM_047434516.1:c.81C>T, XM_047434517.1:c.81C>T, XM_047434541.1:c.81C>T, NM_001394403.1:c.81C>T, NM_001394405.1:c.81C>T, NM_001394408.1:c.81C>T, NM_001394402.1:c.81C>T, XM_047434522.1:c.81C>T, NM_001394404.1:c.81C>T, NM_001394406.1:c.81C>T, NM_001394407.1:c.81C>T

                        12.

                        rs1472835960 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:70250403 (GRCh38)
                          1:70716086 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:70250402:G:A
                          Gene:
                          SRSF11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.70250403G>A, NC_000001.10:g.70716086G>A, NM_004768.5:c.1157G>A, NM_004768.4:c.1157G>A, NM_004768.3:c.1157G>A, NM_001190987.3:c.1157G>A, NM_001190987.2:c.1157G>A, NM_001190987.1:c.1157G>A, NM_001350615.2:c.587G>A, NM_001350615.1:c.587G>A, XM_024450906.2:c.998G>A, XM_024450906.1:c.998G>A, NM_001350612.2:c.587G>A, NM_001350612.1:c.587G>A, NM_001350614.2:c.587G>A, NM_001350614.1:c.587G>A, NM_001350610.2:c.608G>A, NM_001350610.1:c.608G>A, NM_001350611.2:c.608G>A, NM_001350611.1:c.608G>A, NM_001350613.2:c.587G>A, NM_001350613.1:c.587G>A, NM_001350616.2:c.587G>A, NM_001350616.1:c.587G>A, NR_146810.2:n.1447G>A, NR_146810.1:n.1476G>A, NM_001350605.2:c.1157G>A, NM_001350605.1:c.1157G>A, NM_001350608.2:c.1178G>A, NM_001350608.1:c.1178G>A, NM_001350609.2:c.1178G>A, NM_001350609.1:c.1178G>A, NM_001350607.2:c.1157G>A, NM_001350607.1:c.1157G>A, NM_001350606.2:c.1157G>A, NM_001350606.1:c.1157G>A, XM_047434514.1:c.1178G>A, XM_047434518.1:c.1178G>A, XM_047434523.1:c.1157G>A, XM_047434524.1:c.1157G>A, XM_047434516.1:c.1178G>A, XM_047434517.1:c.1178G>A, XM_047434536.1:c.977G>A, NM_001394403.1:c.1190G>A, NM_001394405.1:c.1178G>A, NM_001394408.1:c.1157G>A, NM_001394402.1:c.1190G>A, XM_047434522.1:c.1178G>A, NM_001394404.1:c.1178G>A, NM_001394406.1:c.1157G>A, NM_001394407.1:c.1157G>A, NP_004759.1:p.Arg386Lys, NP_001177916.1:p.Arg386Lys, NP_001337544.1:p.Arg196Lys, XP_024306674.1:p.Arg333Lys, NP_001337541.1:p.Arg196Lys, NP_001337543.1:p.Arg196Lys, NP_001337539.1:p.Arg203Lys, NP_001337540.1:p.Arg203Lys, NP_001337542.1:p.Arg196Lys, NP_001337545.1:p.Arg196Lys, NP_001337534.1:p.Arg386Lys, NP_001337537.1:p.Arg393Lys, NP_001337538.1:p.Arg393Lys, NP_001337536.1:p.Arg386Lys, NP_001337535.1:p.Arg386Lys, XP_047290470.1:p.Arg393Lys, XP_047290474.1:p.Arg393Lys, XP_047290479.1:p.Arg386Lys, XP_047290480.1:p.Arg386Lys, XP_047290472.1:p.Arg393Lys, XP_047290473.1:p.Arg393Lys, XP_047290492.1:p.Arg326Lys, NP_001381332.1:p.Arg397Lys, NP_001381334.1:p.Arg393Lys, NP_001381337.1:p.Arg386Lys, NP_001381331.1:p.Arg397Lys, XP_047290478.1:p.Arg393Lys, NP_001381333.1:p.Arg393Lys, NP_001381335.1:p.Arg386Lys, NP_001381336.1:p.Arg386Lys

                          13.

                          rs1470590142 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:70228455 (GRCh38)
                            1:70694138 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:70228454:C:T
                            Gene:
                            SRSF11 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.70228455C>T, NC_000001.10:g.70694138C>T, NM_004768.5:c.237C>T, NM_004768.4:c.237C>T, NM_004768.3:c.237C>T, NM_001190987.3:c.237C>T, NM_001190987.2:c.237C>T, NM_001190987.1:c.237C>T, NM_001350615.2:c.-334C>T, NM_001350615.1:c.-334C>T, NM_001350612.2:c.-560C>T, NM_001350612.1:c.-560C>T, NM_001350614.2:c.-560C>T, NM_001350614.1:c.-560C>T, NM_001350610.2:c.-451C>T, NM_001350610.1:c.-451C>T, NM_001350611.2:c.-451C>T, NM_001350611.1:c.-451C>T, NM_001350613.2:c.-451C>T, NM_001350613.1:c.-451C>T, NM_001350616.2:c.-451C>T, NM_001350616.1:c.-451C>T, NR_146810.2:n.494C>T, NR_146810.1:n.523C>T, NM_001350605.2:c.237C>T, NM_001350605.1:c.237C>T, NM_001350608.2:c.237C>T, NM_001350608.1:c.237C>T, NM_001350609.2:c.237C>T, NM_001350609.1:c.237C>T, NM_001350607.2:c.237C>T, NM_001350607.1:c.237C>T, NM_001350606.2:c.237C>T, NM_001350606.1:c.237C>T, XM_047434514.1:c.237C>T, XM_047434518.1:c.237C>T, XM_047434523.1:c.237C>T, XM_047434524.1:c.237C>T, XM_047434516.1:c.237C>T, XM_047434517.1:c.237C>T, XM_047434541.1:c.237C>T, NM_001394403.1:c.270C>T, NM_001394405.1:c.237C>T, NM_001394408.1:c.237C>T, NM_001394402.1:c.270C>T, XM_047434522.1:c.237C>T, NM_001394404.1:c.237C>T, NM_001394406.1:c.237C>T, NM_001394407.1:c.237C>T

                            14.

                            rs1470399396 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:70239493 (GRCh38)
                              1:70705176 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:70239492:G:A
                              Gene:
                              SRSF11 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000224/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000223/1 (Estonian)
                              HGVS:
                              NC_000001.11:g.70239493G>A, NC_000001.10:g.70705176G>A, NM_004768.5:c.773G>A, NM_004768.4:c.773G>A, NM_004768.3:c.773G>A, NM_001190987.3:c.773G>A, NM_001190987.2:c.773G>A, NM_001190987.1:c.773G>A, NM_001350615.2:c.203G>A, NM_001350615.1:c.203G>A, XM_024450906.2:c.593G>A, XM_024450906.1:c.593G>A, NM_001350612.2:c.203G>A, NM_001350612.1:c.203G>A, NM_001350614.2:c.203G>A, NM_001350614.1:c.203G>A, NM_001350610.2:c.203G>A, NM_001350610.1:c.203G>A, NM_001350611.2:c.203G>A, NM_001350611.1:c.203G>A, NM_001350613.2:c.203G>A, NM_001350613.1:c.203G>A, NM_001350616.2:c.203G>A, NM_001350616.1:c.203G>A, NR_146810.2:n.1030G>A, NR_146810.1:n.1059G>A, NM_001350605.2:c.773G>A, NM_001350605.1:c.773G>A, NM_001350608.2:c.773G>A, NM_001350608.1:c.773G>A, NM_001350609.2:c.773G>A, NM_001350609.1:c.773G>A, NM_001350607.2:c.773G>A, NM_001350607.1:c.773G>A, NM_001350606.2:c.773G>A, NM_001350606.1:c.773G>A, XM_047434514.1:c.773G>A, XM_047434518.1:c.773G>A, XM_047434523.1:c.773G>A, XM_047434524.1:c.773G>A, XM_047434516.1:c.773G>A, XM_047434517.1:c.773G>A, XM_047434541.1:c.773G>A, XM_047434536.1:c.593G>A, NM_001394403.1:c.806G>A, NM_001394405.1:c.773G>A, NM_001394408.1:c.773G>A, NM_001394402.1:c.806G>A, XM_047434522.1:c.773G>A, NM_001394404.1:c.773G>A, NM_001394406.1:c.773G>A, NM_001394407.1:c.773G>A, NP_004759.1:p.Arg258Lys, NP_001177916.1:p.Arg258Lys, NP_001337544.1:p.Arg68Lys, XP_024306674.1:p.Arg198Lys, NP_001337541.1:p.Arg68Lys, NP_001337543.1:p.Arg68Lys, NP_001337539.1:p.Arg68Lys, NP_001337540.1:p.Arg68Lys, NP_001337542.1:p.Arg68Lys, NP_001337545.1:p.Arg68Lys, NP_001337534.1:p.Arg258Lys, NP_001337537.1:p.Arg258Lys, NP_001337538.1:p.Arg258Lys, NP_001337536.1:p.Arg258Lys, NP_001337535.1:p.Arg258Lys, XP_047290470.1:p.Arg258Lys, XP_047290474.1:p.Arg258Lys, XP_047290479.1:p.Arg258Lys, XP_047290480.1:p.Arg258Lys, XP_047290472.1:p.Arg258Lys, XP_047290473.1:p.Arg258Lys, XP_047290497.1:p.Arg258Lys, XP_047290492.1:p.Arg198Lys, NP_001381332.1:p.Arg269Lys, NP_001381334.1:p.Arg258Lys, NP_001381337.1:p.Arg258Lys, NP_001381331.1:p.Arg269Lys, XP_047290478.1:p.Arg258Lys, NP_001381333.1:p.Arg258Lys, NP_001381335.1:p.Arg258Lys, NP_001381336.1:p.Arg258Lys

                              15.

                              rs1470288939 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                1:70250445 (GRCh38)
                                1:70716128 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:70250444:A:T
                                Gene:
                                SRSF11 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000001.11:g.70250445A>T, NC_000001.10:g.70716128A>T, NM_004768.5:c.1199A>T, NM_004768.4:c.1199A>T, NM_004768.3:c.1199A>T, NM_001190987.3:c.1199A>T, NM_001190987.2:c.1199A>T, NM_001190987.1:c.1199A>T, NM_001350615.2:c.629A>T, NM_001350615.1:c.629A>T, XM_024450906.2:c.1040A>T, XM_024450906.1:c.1040A>T, NM_001350612.2:c.629A>T, NM_001350612.1:c.629A>T, NM_001350614.2:c.629A>T, NM_001350614.1:c.629A>T, NM_001350610.2:c.650A>T, NM_001350610.1:c.650A>T, NM_001350611.2:c.650A>T, NM_001350611.1:c.650A>T, NM_001350613.2:c.629A>T, NM_001350613.1:c.629A>T, NM_001350616.2:c.629A>T, NM_001350616.1:c.629A>T, NR_146810.2:n.1489A>T, NR_146810.1:n.1518A>T, NM_001350605.2:c.1199A>T, NM_001350605.1:c.1199A>T, NM_001350608.2:c.1220A>T, NM_001350608.1:c.1220A>T, NM_001350609.2:c.1220A>T, NM_001350609.1:c.1220A>T, NM_001350607.2:c.1199A>T, NM_001350607.1:c.1199A>T, NM_001350606.2:c.1199A>T, NM_001350606.1:c.1199A>T, XM_047434514.1:c.1220A>T, XM_047434518.1:c.1220A>T, XM_047434523.1:c.1199A>T, XM_047434524.1:c.1199A>T, XM_047434516.1:c.1220A>T, XM_047434517.1:c.1220A>T, XM_047434536.1:c.1019A>T, NM_001394403.1:c.1232A>T, NM_001394405.1:c.1220A>T, NM_001394408.1:c.1199A>T, NM_001394402.1:c.1232A>T, XM_047434522.1:c.1220A>T, NM_001394404.1:c.1220A>T, NM_001394406.1:c.1199A>T, NM_001394407.1:c.1199A>T, NP_004759.1:p.Lys400Met, NP_001177916.1:p.Lys400Met, NP_001337544.1:p.Lys210Met, XP_024306674.1:p.Lys347Met, NP_001337541.1:p.Lys210Met, NP_001337543.1:p.Lys210Met, NP_001337539.1:p.Lys217Met, NP_001337540.1:p.Lys217Met, NP_001337542.1:p.Lys210Met, NP_001337545.1:p.Lys210Met, NP_001337534.1:p.Lys400Met, NP_001337537.1:p.Lys407Met, NP_001337538.1:p.Lys407Met, NP_001337536.1:p.Lys400Met, NP_001337535.1:p.Lys400Met, XP_047290470.1:p.Lys407Met, XP_047290474.1:p.Lys407Met, XP_047290479.1:p.Lys400Met, XP_047290480.1:p.Lys400Met, XP_047290472.1:p.Lys407Met, XP_047290473.1:p.Lys407Met, XP_047290492.1:p.Lys340Met, NP_001381332.1:p.Lys411Met, NP_001381334.1:p.Lys407Met, NP_001381337.1:p.Lys400Met, NP_001381331.1:p.Lys411Met, XP_047290478.1:p.Lys407Met, NP_001381333.1:p.Lys407Met, NP_001381335.1:p.Lys400Met, NP_001381336.1:p.Lys400Met

                                16.

                                rs1467385296 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:70244706 (GRCh38)
                                  1:70710389 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:70244705:C:T
                                  Gene:
                                  SRSF11 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.70244706C>T, NC_000001.10:g.70710389C>T, NM_004768.5:c.823C>T, NM_004768.4:c.823C>T, NM_004768.3:c.823C>T, NM_001190987.3:c.823C>T, NM_001190987.2:c.823C>T, NM_001190987.1:c.823C>T, NM_001350615.2:c.253C>T, NM_001350615.1:c.253C>T, XM_024450906.2:c.643C>T, XM_024450906.1:c.643C>T, NM_001350612.2:c.253C>T, NM_001350612.1:c.253C>T, NM_001350614.2:c.253C>T, NM_001350614.1:c.253C>T, NM_001350610.2:c.253C>T, NM_001350610.1:c.253C>T, NM_001350611.2:c.253C>T, NM_001350611.1:c.253C>T, NM_001350613.2:c.253C>T, NM_001350613.1:c.253C>T, NM_001350616.2:c.253C>T, NM_001350616.1:c.253C>T, NR_146810.2:n.1080C>T, NR_146810.1:n.1109C>T, NM_001350605.2:c.823C>T, NM_001350605.1:c.823C>T, NM_001350608.2:c.823C>T, NM_001350608.1:c.823C>T, NM_001350609.2:c.823C>T, NM_001350609.1:c.823C>T, NM_001350607.2:c.823C>T, NM_001350607.1:c.823C>T, NM_001350606.2:c.823C>T, NM_001350606.1:c.823C>T, XM_047434514.1:c.823C>T, XM_047434518.1:c.823C>T, XM_047434523.1:c.823C>T, XM_047434524.1:c.823C>T, XM_047434516.1:c.823C>T, XM_047434517.1:c.823C>T, XM_047434541.1:c.823C>T, XM_047434536.1:c.643C>T, NM_001394403.1:c.856C>T, NM_001394405.1:c.823C>T, NM_001394408.1:c.823C>T, NM_001394402.1:c.856C>T, XM_047434522.1:c.823C>T, NM_001394404.1:c.823C>T, NM_001394406.1:c.823C>T, NM_001394407.1:c.823C>T, NP_004759.1:p.Arg275Trp, NP_001177916.1:p.Arg275Trp, NP_001337544.1:p.Arg85Trp, XP_024306674.1:p.Arg215Trp, NP_001337541.1:p.Arg85Trp, NP_001337543.1:p.Arg85Trp, NP_001337539.1:p.Arg85Trp, NP_001337540.1:p.Arg85Trp, NP_001337542.1:p.Arg85Trp, NP_001337545.1:p.Arg85Trp, NP_001337534.1:p.Arg275Trp, NP_001337537.1:p.Arg275Trp, NP_001337538.1:p.Arg275Trp, NP_001337536.1:p.Arg275Trp, NP_001337535.1:p.Arg275Trp, XP_047290470.1:p.Arg275Trp, XP_047290474.1:p.Arg275Trp, XP_047290479.1:p.Arg275Trp, XP_047290480.1:p.Arg275Trp, XP_047290472.1:p.Arg275Trp, XP_047290473.1:p.Arg275Trp, XP_047290497.1:p.Arg275Trp, XP_047290492.1:p.Arg215Trp, NP_001381332.1:p.Arg286Trp, NP_001381334.1:p.Arg275Trp, NP_001381337.1:p.Arg275Trp, NP_001381331.1:p.Arg286Trp, XP_047290478.1:p.Arg275Trp, NP_001381333.1:p.Arg275Trp, NP_001381335.1:p.Arg275Trp, NP_001381336.1:p.Arg275Trp

                                  17.

                                  rs1459830076 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:70228471 (GRCh38)
                                    1:70694154 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:70228470:G:A
                                    Gene:
                                    SRSF11 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.70228471G>A, NC_000001.10:g.70694154G>A, NM_004768.5:c.253G>A, NM_004768.4:c.253G>A, NM_004768.3:c.253G>A, NM_001190987.3:c.253G>A, NM_001190987.2:c.253G>A, NM_001190987.1:c.253G>A, NM_001350615.2:c.-318G>A, NM_001350615.1:c.-318G>A, NM_001350612.2:c.-544G>A, NM_001350612.1:c.-544G>A, NM_001350614.2:c.-544G>A, NM_001350614.1:c.-544G>A, NM_001350610.2:c.-435G>A, NM_001350610.1:c.-435G>A, NM_001350611.2:c.-435G>A, NM_001350611.1:c.-435G>A, NM_001350613.2:c.-435G>A, NM_001350613.1:c.-435G>A, NM_001350616.2:c.-435G>A, NM_001350616.1:c.-435G>A, NR_146810.2:n.510G>A, NR_146810.1:n.539G>A, NM_001350605.2:c.253G>A, NM_001350605.1:c.253G>A, NM_001350608.2:c.253G>A, NM_001350608.1:c.253G>A, NM_001350609.2:c.253G>A, NM_001350609.1:c.253G>A, NM_001350607.2:c.253G>A, NM_001350607.1:c.253G>A, NM_001350606.2:c.253G>A, NM_001350606.1:c.253G>A, XM_047434514.1:c.253G>A, XM_047434518.1:c.253G>A, XM_047434523.1:c.253G>A, XM_047434524.1:c.253G>A, XM_047434516.1:c.253G>A, XM_047434517.1:c.253G>A, XM_047434541.1:c.253G>A, NM_001394403.1:c.286G>A, NM_001394405.1:c.253G>A, NM_001394408.1:c.253G>A, NM_001394402.1:c.286G>A, XM_047434522.1:c.253G>A, NM_001394404.1:c.253G>A, NM_001394406.1:c.253G>A, NM_001394407.1:c.253G>A, NP_004759.1:p.Asp85Asn, NP_001177916.1:p.Asp85Asn, NP_001337534.1:p.Asp85Asn, NP_001337537.1:p.Asp85Asn, NP_001337538.1:p.Asp85Asn, NP_001337536.1:p.Asp85Asn, NP_001337535.1:p.Asp85Asn, XP_047290470.1:p.Asp85Asn, XP_047290474.1:p.Asp85Asn, XP_047290479.1:p.Asp85Asn, XP_047290480.1:p.Asp85Asn, XP_047290472.1:p.Asp85Asn, XP_047290473.1:p.Asp85Asn, XP_047290497.1:p.Asp85Asn, NP_001381332.1:p.Asp96Asn, NP_001381334.1:p.Asp85Asn, NP_001381337.1:p.Asp85Asn, NP_001381331.1:p.Asp96Asn, XP_047290478.1:p.Asp85Asn, NP_001381333.1:p.Asp85Asn, NP_001381335.1:p.Asp85Asn, NP_001381336.1:p.Asp85Asn

                                    18.

                                    rs1455933808 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:70237530 (GRCh38)
                                      1:70703213 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:70237529:A:G
                                      Gene:
                                      SRSF11 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                      HGVS:
                                      NC_000001.11:g.70237530A>G, NC_000001.10:g.70703213A>G, NM_004768.5:c.696A>G, NM_004768.4:c.696A>G, NM_004768.3:c.696A>G, NM_001190987.3:c.696A>G, NM_001190987.2:c.696A>G, NM_001190987.1:c.696A>G, NM_001350615.2:c.126A>G, NM_001350615.1:c.126A>G, XM_024450906.2:c.516A>G, XM_024450906.1:c.516A>G, NM_001350612.2:c.126A>G, NM_001350612.1:c.126A>G, NM_001350614.2:c.126A>G, NM_001350614.1:c.126A>G, NM_001350610.2:c.126A>G, NM_001350610.1:c.126A>G, NM_001350611.2:c.126A>G, NM_001350611.1:c.126A>G, NM_001350613.2:c.126A>G, NM_001350613.1:c.126A>G, NM_001350616.2:c.126A>G, NM_001350616.1:c.126A>G, NR_146810.2:n.953A>G, NR_146810.1:n.982A>G, NM_001350605.2:c.696A>G, NM_001350605.1:c.696A>G, NM_001350608.2:c.696A>G, NM_001350608.1:c.696A>G, NM_001350609.2:c.696A>G, NM_001350609.1:c.696A>G, NM_001350607.2:c.696A>G, NM_001350607.1:c.696A>G, NM_001350606.2:c.696A>G, NM_001350606.1:c.696A>G, XM_047434514.1:c.696A>G, XM_047434518.1:c.696A>G, XM_047434523.1:c.696A>G, XM_047434524.1:c.696A>G, XM_047434516.1:c.696A>G, XM_047434517.1:c.696A>G, XM_047434541.1:c.696A>G, XM_047434536.1:c.516A>G, NM_001394403.1:c.729A>G, NM_001394405.1:c.696A>G, NM_001394408.1:c.696A>G, NM_001394402.1:c.729A>G, XM_047434522.1:c.696A>G, NM_001394404.1:c.696A>G, NM_001394406.1:c.696A>G, NM_001394407.1:c.696A>G

                                      19.

                                      rs1455921356 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:70246842 (GRCh38)
                                        1:70712525 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:70246841:A:G
                                        Gene:
                                        SRSF11 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.70246842A>G, NC_000001.10:g.70712525A>G, NM_004768.5:c.957A>G, NM_004768.4:c.957A>G, NM_004768.3:c.957A>G, NM_001190987.3:c.957A>G, NM_001190987.2:c.957A>G, NM_001190987.1:c.957A>G, NM_001350615.2:c.387A>G, NM_001350615.1:c.387A>G, XM_024450906.2:c.777A>G, XM_024450906.1:c.777A>G, NM_001350612.2:c.387A>G, NM_001350612.1:c.387A>G, NM_001350614.2:c.387A>G, NM_001350614.1:c.387A>G, NM_001350610.2:c.387A>G, NM_001350610.1:c.387A>G, NM_001350611.2:c.387A>G, NM_001350611.1:c.387A>G, NM_001350613.2:c.387A>G, NM_001350613.1:c.387A>G, NM_001350616.2:c.387A>G, NM_001350616.1:c.387A>G, NR_146810.2:n.1214A>G, NR_146810.1:n.1243A>G, NM_001350605.2:c.957A>G, NM_001350605.1:c.957A>G, NM_001350608.2:c.957A>G, NM_001350608.1:c.957A>G, NM_001350609.2:c.957A>G, NM_001350609.1:c.957A>G, NM_001350607.2:c.957A>G, NM_001350607.1:c.957A>G, NM_001350606.2:c.957A>G, NM_001350606.1:c.957A>G, XM_047434514.1:c.957A>G, XM_047434518.1:c.957A>G, XM_047434523.1:c.957A>G, XM_047434524.1:c.957A>G, XM_047434516.1:c.957A>G, XM_047434517.1:c.957A>G, XM_047434541.1:c.957A>G, XM_047434536.1:c.777A>G, NM_001394403.1:c.990A>G, NM_001394405.1:c.957A>G, NM_001394408.1:c.957A>G, NM_001394402.1:c.990A>G, XM_047434522.1:c.957A>G, NM_001394404.1:c.957A>G, NM_001394406.1:c.957A>G, NM_001394407.1:c.957A>G

                                        20.

                                        rs1453601293 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          1:70221727 (GRCh38)
                                          1:70687410 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:70221726:G:C
                                          Gene:
                                          SRSF11 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.70221727G>C, NC_000001.10:g.70687410G>C, NM_004768.5:c.91G>C, NM_004768.4:c.91G>C, NM_004768.3:c.91G>C, NM_001190987.3:c.91G>C, NM_001190987.2:c.91G>C, NM_001190987.1:c.91G>C, NM_001350615.2:c.-1439G>C, NM_001350615.1:c.-1439G>C, NM_001350612.2:c.-706G>C, NM_001350612.1:c.-706G>C, NM_001350614.2:c.-706G>C, NM_001350614.1:c.-706G>C, NM_001350610.2:c.-597G>C, NM_001350610.1:c.-597G>C, NM_001350611.2:c.-597G>C, NM_001350611.1:c.-597G>C, NM_001350613.2:c.-597G>C, NM_001350613.1:c.-597G>C, NM_001350616.2:c.-597G>C, NM_001350616.1:c.-597G>C, NR_146810.2:n.348G>C, NR_146810.1:n.377G>C, NM_001350605.2:c.91G>C, NM_001350605.1:c.91G>C, NM_001350608.2:c.91G>C, NM_001350608.1:c.91G>C, NM_001350609.2:c.91G>C, NM_001350609.1:c.91G>C, NM_001350607.2:c.91G>C, NM_001350607.1:c.91G>C, NM_001350606.2:c.91G>C, NM_001350606.1:c.91G>C, XM_047434514.1:c.91G>C, XM_047434518.1:c.91G>C, XM_047434523.1:c.91G>C, XM_047434524.1:c.91G>C, XM_047434516.1:c.91G>C, XM_047434517.1:c.91G>C, XM_047434541.1:c.91G>C, NM_001394403.1:c.91G>C, NM_001394405.1:c.91G>C, NM_001394408.1:c.91G>C, NM_001394402.1:c.91G>C, XM_047434522.1:c.91G>C, NM_001394404.1:c.91G>C, NM_001394406.1:c.91G>C, NM_001394407.1:c.91G>C, NP_004759.1:p.Gly31Arg, NP_001177916.1:p.Gly31Arg, NP_001337534.1:p.Gly31Arg, NP_001337537.1:p.Gly31Arg, NP_001337538.1:p.Gly31Arg, NP_001337536.1:p.Gly31Arg, NP_001337535.1:p.Gly31Arg, XP_047290470.1:p.Gly31Arg, XP_047290474.1:p.Gly31Arg, XP_047290479.1:p.Gly31Arg, XP_047290480.1:p.Gly31Arg, XP_047290472.1:p.Gly31Arg, XP_047290473.1:p.Gly31Arg, XP_047290497.1:p.Gly31Arg, NP_001381332.1:p.Gly31Arg, NP_001381334.1:p.Gly31Arg, NP_001381337.1:p.Gly31Arg, NP_001381331.1:p.Gly31Arg, XP_047290478.1:p.Gly31Arg, NP_001381333.1:p.Gly31Arg, NP_001381335.1:p.Gly31Arg, NP_001381336.1:p.Gly31Arg

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