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1.

rs1489640299 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:11275101 (GRCh38)
    10:11317064 (GRCh37)
    Canonical SPDI:
    NC_000010.11:11275100:C:T
    Gene:
    CELF2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.11275101C>T, NC_000010.10:g.11317064C>T, NM_006561.4:c.822C>T, NM_006561.3:c.822C>T, NM_001025077.3:c.801C>T, NM_001025077.2:c.801C>T, NM_001326330.2:c.729C>T, NM_001326330.1:c.729C>T, NM_001326343.2:c.822C>T, NM_001326343.1:c.822C>T, NM_001326329.2:c.729C>T, NM_001326329.1:c.729C>T, NM_001326340.2:c.822C>T, NM_001326340.1:c.822C>T, NM_001326334.2:c.729C>T, NM_001326334.1:c.729C>T, NM_001326342.2:c.822C>T, NM_001326342.1:c.822C>T, NM_001326349.2:c.729C>T, NM_001326349.1:c.729C>T, NM_001326319.2:c.729C>T, NM_001326319.1:c.729C>T, NM_001326336.2:c.801C>T, NM_001326336.1:c.801C>T, NM_001326339.2:c.468C>T, NM_001326339.1:c.468C>T, NM_001326338.2:c.468C>T, NM_001326338.1:c.468C>T, NM_001326321.2:c.729C>T, NM_001326321.1:c.729C>T, NM_001326318.2:c.729C>T, NM_001326318.1:c.729C>T, NM_001326317.2:c.729C>T, NM_001326317.1:c.729C>T, NM_001326333.2:c.117C>T, NM_001326333.1:c.117C>T, NM_001025076.2:c.729C>T, NM_001326341.2:c.822C>T, NM_001326341.1:c.822C>T, NM_001326323.2:c.729C>T, NM_001326323.1:c.729C>T, NM_001326328.2:c.729C>T, NM_001326328.1:c.729C>T, NM_001326320.2:c.729C>T, NM_001326320.1:c.729C>T, NM_001326348.2:c.729C>T, NM_001326348.1:c.729C>T, NM_001326325.2:c.894C>T, NM_001326325.1:c.894C>T, XM_024447776.2:c.801C>T, XM_024447776.1:c.801C>T, NM_001326331.2:c.801C>T, NM_001326331.1:c.801C>T, NM_001326327.2:c.837C>T, NM_001326327.1:c.837C>T, NM_001326335.2:c.801C>T, NM_001326335.1:c.801C>T, NM_001326332.2:c.801C>T, NM_001326332.1:c.801C>T, NM_001326326.2:c.837C>T, NM_001326326.1:c.837C>T, NM_001326345.2:c.729C>T, NM_001326345.1:c.729C>T, NM_001326324.2:c.729C>T, NM_001326324.1:c.729C>T, NM_001326346.2:c.117C>T, NM_001326346.1:c.117C>T, NM_001326344.2:c.729C>T, NM_001326344.1:c.729C>T, NM_001326337.2:c.801C>T, NM_001326337.1:c.801C>T, NM_001394519.1:c.822C>T, NM_001394513.1:c.822C>T, NM_001394517.1:c.729C>T, NM_001394502.1:c.801C>T, XM_047424503.1:c.729C>T, XM_047424506.1:c.837C>T, XM_047424486.1:c.822C>T, XM_047424489.1:c.729C>T, NM_001394518.1:c.822C>T, NM_001083591.1:c.729C>T, XM_047424492.1:c.729C>T, XM_047424495.1:c.729C>T, XM_047424485.1:c.837C>T, XM_047424494.1:c.729C>T, XM_047424491.1:c.729C>T, XM_047424484.1:c.837C>T, XM_047424482.1:c.894C>T, XM_047424502.1:c.729C>T, XM_047424483.1:c.894C>T, XM_047424493.1:c.729C>T, XM_047424499.1:c.729C>T, XM_047424496.1:c.729C>T, XM_047424490.1:c.729C>T, XM_047424487.1:c.837C>T, XM_047424498.1:c.729C>T, XM_047424501.1:c.729C>T, XM_047424505.1:c.729C>T, XM_047424507.1:c.822C>T, XM_047424504.1:c.729C>T, XM_047424500.1:c.729C>T, XM_047424509.1:c.468C>T, XM_047424488.1:c.729C>T, XM_047424510.1:c.117C>T, NM_001326347.1:c.753C>T, XM_047424508.1:c.729C>T

    2.

    rs1485262054 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      10:11321209 (GRCh38)
      10:11363172 (GRCh37)
      Canonical SPDI:
      NC_000010.11:11321208:A:T
      Gene:
      CELF2 (Varview), CELF2-AS1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.11321209A>T, NC_000010.10:g.11363172A>T, NM_006561.4:c.1117A>T, NM_006561.3:c.1117A>T, NM_001025077.3:c.1078A>T, NM_001025077.2:c.1078A>T, NM_001326330.2:c.1024A>T, NM_001326330.1:c.1024A>T, NM_001326343.2:c.1171A>T, NM_001326343.1:c.1171A>T, NM_001326329.2:c.1006A>T, NM_001326329.1:c.1006A>T, NM_001326340.2:c.1153A>T, NM_001326340.1:c.1153A>T, NM_001326334.2:c.1024A>T, NM_001326334.1:c.1024A>T, NM_001326342.2:c.1117A>T, NM_001326342.1:c.1117A>T, NM_001326349.2:c.1024A>T, NM_001326349.1:c.1024A>T, NM_001326319.2:c.1078A>T, NM_001326319.1:c.1078A>T, NM_001326336.2:c.1150A>T, NM_001326336.1:c.1150A>T, NM_001326339.2:c.763A>T, NM_001326339.1:c.763A>T, NM_001326338.2:c.745A>T, NM_001326338.1:c.745A>T, NM_001326321.2:c.1048A>T, NM_001326321.1:c.1048A>T, NM_001326318.2:c.1024A>T, NM_001326318.1:c.1024A>T, NM_001326317.2:c.1006A>T, NM_001326317.1:c.1006A>T, NM_001326333.2:c.412A>T, NM_001326333.1:c.412A>T, NM_001025076.2:c.1024A>T, NM_001326341.2:c.1099A>T, NM_001326341.1:c.1099A>T, NM_001326323.2:c.1066A>T, NM_001326323.1:c.1066A>T, NM_001326328.2:c.1024A>T, NM_001326328.1:c.1024A>T, NM_001326320.2:c.1024A>T, NM_001326320.1:c.1024A>T, NM_001326348.2:c.1006A>T, NM_001326348.1:c.1006A>T, NM_001326325.2:c.1171A>T, NM_001326325.1:c.1171A>T, XM_024447776.2:c.1108A>T, XM_024447776.1:c.1108A>T, NM_001326331.2:c.1096A>T, NM_001326331.1:c.1096A>T, NM_001326327.2:c.1132A>T, NM_001326327.1:c.1132A>T, NM_001326335.2:c.1090A>T, NM_001326335.1:c.1090A>T, NM_001326332.2:c.1078A>T, NM_001326332.1:c.1078A>T, NM_001326326.2:c.1114A>T, NM_001326326.1:c.1114A>T, NM_001326345.2:c.1024A>T, NM_001326345.1:c.1024A>T, NM_001326324.2:c.1024A>T, NM_001326324.1:c.1024A>T, NM_001326346.2:c.394A>T, NM_001326346.1:c.394A>T, NM_001326344.2:c.1006A>T, NM_001326344.1:c.1006A>T, NM_001394519.1:c.1111A>T, NM_001394513.1:c.1099A>T, NM_001394517.1:c.1006A>T, NM_001394502.1:c.1096A>T, XM_047424503.1:c.1024A>T, XM_047424486.1:c.1129A>T, XM_047424489.1:c.1036A>T, NM_001394518.1:c.1111A>T, NM_001083591.1:c.1018A>T, XM_047424492.1:c.1036A>T, XM_047424495.1:c.1036A>T, XM_047424485.1:c.1144A>T, XM_047424494.1:c.1036A>T, XM_047424491.1:c.1036A>T, XM_047424484.1:c.1144A>T, XM_047424482.1:c.1201A>T, XM_047424502.1:c.1024A>T, XM_047424483.1:c.1189A>T, XM_047424493.1:c.1036A>T, XM_047424499.1:c.1036A>T, XM_047424496.1:c.1036A>T, XM_047424490.1:c.1036A>T, XM_047424487.1:c.1126A>T, XM_047424498.1:c.1036A>T, XM_047424501.1:c.1024A>T, XM_047424505.1:c.1006A>T, XM_047424504.1:c.1018A>T, XM_047424500.1:c.1036A>T, XM_047424509.1:c.775A>T, XM_047424510.1:c.424A>T, NM_001326347.1:c.1042A>T, NP_006552.3:p.Met373Leu, NP_001020248.1:p.Met360Leu, NP_001313259.1:p.Met342Leu, NP_001313272.1:p.Met391Leu, NP_001313258.1:p.Met336Leu, NP_001313269.1:p.Met385Leu, NP_001313263.1:p.Met342Leu, NP_001313271.1:p.Met373Leu, NP_001313278.1:p.Met342Leu, NP_001313248.1:p.Met360Leu, NP_001313265.1:p.Met384Leu, NP_001313268.1:p.Met255Leu, NP_001313267.1:p.Met249Leu, NP_001313250.1:p.Met350Leu, NP_001313247.1:p.Met342Leu, NP_001313246.1:p.Met336Leu, NP_001313262.1:p.Met138Leu, NP_001020247.1:p.Met342Leu, NP_001313270.1:p.Met367Leu, NP_001313252.1:p.Met356Leu, NP_001313257.1:p.Met342Leu, NP_001313249.1:p.Met342Leu, NP_001313277.1:p.Met336Leu, NP_001313254.1:p.Met391Leu, XP_024303544.1:p.Met370Leu, NP_001313260.1:p.Met366Leu, NP_001313256.1:p.Met378Leu, NP_001313264.1:p.Met364Leu, NP_001313261.1:p.Met360Leu, NP_001313255.1:p.Met372Leu, NP_001313274.1:p.Met342Leu, NP_001313253.1:p.Met342Leu, NP_001313275.1:p.Met132Leu, NP_001313273.1:p.Met336Leu, NP_001381448.1:p.Met371Leu, NP_001381442.1:p.Met367Leu, NP_001381446.1:p.Met336Leu, NP_001381431.1:p.Met366Leu, XP_047280459.1:p.Met342Leu, XP_047280442.1:p.Met377Leu, XP_047280445.1:p.Met346Leu, NP_001381447.1:p.Met371Leu, NP_001077060.1:p.Met340Leu, XP_047280448.1:p.Met346Leu, XP_047280451.1:p.Met346Leu, XP_047280441.1:p.Met382Leu, XP_047280450.1:p.Met346Leu, XP_047280447.1:p.Met346Leu, XP_047280440.1:p.Met382Leu, XP_047280438.1:p.Met401Leu, XP_047280458.1:p.Met342Leu, XP_047280439.1:p.Met397Leu, XP_047280449.1:p.Met346Leu, XP_047280455.1:p.Met346Leu, XP_047280452.1:p.Met346Leu, XP_047280446.1:p.Met346Leu, XP_047280443.1:p.Met376Leu, XP_047280454.1:p.Met346Leu, XP_047280457.1:p.Met342Leu, XP_047280461.1:p.Met336Leu, XP_047280460.1:p.Met340Leu, XP_047280456.1:p.Met346Leu, XP_047280465.1:p.Met259Leu, XP_047280466.1:p.Met142Leu, NP_001313276.1:p.Met348Leu

      3.

      rs1484342722 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        10:11328953 (GRCh38)
        10:11370916 (GRCh37)
        Canonical SPDI:
        NC_000010.11:11328952:C:G
        Gene:
        CELF2 (Varview), CELF2-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.11328953C>G, NC_000010.10:g.11370916C>G, NM_006561.4:c.1466C>G, NM_006561.3:c.1466C>G, NM_001025077.3:c.1427C>G, NM_001025077.2:c.1427C>G, NM_001326330.2:c.1373C>G, NM_001326330.1:c.1373C>G, NM_001326343.2:c.1520C>G, NM_001326343.1:c.1520C>G, NM_001326329.2:c.1355C>G, NM_001326329.1:c.1355C>G, NM_001326340.2:c.1502C>G, NM_001326340.1:c.1502C>G, NM_001326334.2:c.1373C>G, NM_001326334.1:c.1373C>G, NM_001326342.2:c.1466C>G, NM_001326342.1:c.1466C>G, NM_001326349.2:c.1373C>G, NM_001326349.1:c.1373C>G, NM_001326319.2:c.1427C>G, NM_001326319.1:c.1427C>G, NM_001326336.2:c.1499C>G, NM_001326336.1:c.1499C>G, NM_001326339.2:c.1112C>G, NM_001326339.1:c.1112C>G, NM_001326338.2:c.1094C>G, NM_001326338.1:c.1094C>G, NM_001326321.2:c.1397C>G, NM_001326321.1:c.1397C>G, NM_001326318.2:c.1373C>G, NM_001326318.1:c.1373C>G, NM_001326317.2:c.1355C>G, NM_001326317.1:c.1355C>G, NM_001326333.2:c.761C>G, NM_001326333.1:c.761C>G, NM_001025076.2:c.1373C>G, NM_001326341.2:c.1448C>G, NM_001326341.1:c.1448C>G, NM_001326323.2:c.1415C>G, NM_001326323.1:c.1415C>G, NM_001326328.2:c.1373C>G, NM_001326328.1:c.1373C>G, NM_001326320.2:c.1373C>G, NM_001326320.1:c.1373C>G, NM_001326348.2:c.1355C>G, NM_001326348.1:c.1355C>G, NM_001326325.2:c.1520C>G, NM_001326325.1:c.1520C>G, XM_024447776.2:c.1457C>G, XM_024447776.1:c.1457C>G, NM_001326331.2:c.1445C>G, NM_001326331.1:c.1445C>G, NM_001326327.2:c.1481C>G, NM_001326327.1:c.1481C>G, NM_001326335.2:c.1439C>G, NM_001326335.1:c.1439C>G, NM_001326332.2:c.1427C>G, NM_001326332.1:c.1427C>G, NM_001326326.2:c.1463C>G, NM_001326326.1:c.1463C>G, NM_001326345.2:c.1373C>G, NM_001326345.1:c.1373C>G, NM_001326324.2:c.1373C>G, NM_001326324.1:c.1373C>G, NM_001326346.2:c.743C>G, NM_001326346.1:c.743C>G, NM_001326344.2:c.1355C>G, NM_001326344.1:c.1355C>G, NM_001326337.2:c.1259C>G, NM_001326337.1:c.1259C>G, NM_001394519.1:c.1460C>G, NM_001394513.1:c.1448C>G, NM_001394517.1:c.1355C>G, NM_001394502.1:c.1445C>G, XM_047424503.1:c.1373C>G, XM_047424506.1:c.1295C>G, XM_047424486.1:c.1478C>G, XM_047424489.1:c.1385C>G, NM_001394518.1:c.1460C>G, NM_001083591.1:c.1367C>G, XM_047424492.1:c.1385C>G, XM_047424495.1:c.1385C>G, XM_047424485.1:c.1493C>G, XM_047424494.1:c.1385C>G, XM_047424491.1:c.1385C>G, XM_047424484.1:c.1493C>G, XM_047424482.1:c.1550C>G, XM_047424502.1:c.1373C>G, XM_047424483.1:c.1538C>G, XM_047424493.1:c.1385C>G, XM_047424499.1:c.1385C>G, XM_047424496.1:c.1385C>G, XM_047424490.1:c.1385C>G, XM_047424487.1:c.1475C>G, XM_047424498.1:c.1385C>G, XM_047424501.1:c.1373C>G, XM_047424505.1:c.1355C>G, XM_047424507.1:c.1280C>G, XM_047424504.1:c.1367C>G, XM_047424500.1:c.1385C>G, XM_047424509.1:c.1124C>G, XM_047424488.1:c.1187C>G, XM_047424510.1:c.773C>G, NM_001326347.1:c.1391C>G, NP_006552.3:p.Ser489Cys, NP_001020248.1:p.Ser476Cys, NP_001313259.1:p.Ser458Cys, NP_001313272.1:p.Ser507Cys, NP_001313258.1:p.Ser452Cys, NP_001313269.1:p.Ser501Cys, NP_001313263.1:p.Ser458Cys, NP_001313271.1:p.Ser489Cys, NP_001313278.1:p.Ser458Cys, NP_001313248.1:p.Ser476Cys, NP_001313265.1:p.Ser500Cys, NP_001313268.1:p.Ser371Cys, NP_001313267.1:p.Ser365Cys, NP_001313250.1:p.Ser466Cys, NP_001313247.1:p.Ser458Cys, NP_001313246.1:p.Ser452Cys, NP_001313262.1:p.Ser254Cys, NP_001020247.1:p.Ser458Cys, NP_001313270.1:p.Ser483Cys, NP_001313252.1:p.Ser472Cys, NP_001313257.1:p.Ser458Cys, NP_001313249.1:p.Ser458Cys, NP_001313277.1:p.Ser452Cys, NP_001313254.1:p.Ser507Cys, XP_024303544.1:p.Ser486Cys, NP_001313260.1:p.Ser482Cys, NP_001313256.1:p.Ser494Cys, NP_001313264.1:p.Ser480Cys, NP_001313261.1:p.Ser476Cys, NP_001313255.1:p.Ser488Cys, NP_001313274.1:p.Ser458Cys, NP_001313253.1:p.Ser458Cys, NP_001313275.1:p.Ser248Cys, NP_001313273.1:p.Ser452Cys, NP_001313266.1:p.Ser420Cys, NP_001381448.1:p.Ser487Cys, NP_001381442.1:p.Ser483Cys, NP_001381446.1:p.Ser452Cys, NP_001381431.1:p.Ser482Cys, XP_047280459.1:p.Ser458Cys, XP_047280462.1:p.Ser432Cys, XP_047280442.1:p.Ser493Cys, XP_047280445.1:p.Ser462Cys, NP_001381447.1:p.Ser487Cys, NP_001077060.1:p.Ser456Cys, XP_047280448.1:p.Ser462Cys, XP_047280451.1:p.Ser462Cys, XP_047280441.1:p.Ser498Cys, XP_047280450.1:p.Ser462Cys, XP_047280447.1:p.Ser462Cys, XP_047280440.1:p.Ser498Cys, XP_047280438.1:p.Ser517Cys, XP_047280458.1:p.Ser458Cys, XP_047280439.1:p.Ser513Cys, XP_047280449.1:p.Ser462Cys, XP_047280455.1:p.Ser462Cys, XP_047280452.1:p.Ser462Cys, XP_047280446.1:p.Ser462Cys, XP_047280443.1:p.Ser492Cys, XP_047280454.1:p.Ser462Cys, XP_047280457.1:p.Ser458Cys, XP_047280461.1:p.Ser452Cys, XP_047280463.1:p.Ser427Cys, XP_047280460.1:p.Ser456Cys, XP_047280456.1:p.Ser462Cys, XP_047280465.1:p.Ser375Cys, XP_047280444.1:p.Ser396Cys, XP_047280466.1:p.Ser258Cys, NP_001313276.1:p.Ser464Cys

        4.

        rs1483009983 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:11275119 (GRCh38)
          10:11317082 (GRCh37)
          Canonical SPDI:
          NC_000010.11:11275118:A:G
          Gene:
          CELF2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.11275119A>G, NC_000010.10:g.11317082A>G, NM_006561.4:c.840A>G, NM_006561.3:c.840A>G, NM_001025077.3:c.819A>G, NM_001025077.2:c.819A>G, NM_001326330.2:c.747A>G, NM_001326330.1:c.747A>G, NM_001326343.2:c.840A>G, NM_001326343.1:c.840A>G, NM_001326329.2:c.747A>G, NM_001326329.1:c.747A>G, NM_001326340.2:c.840A>G, NM_001326340.1:c.840A>G, NM_001326334.2:c.747A>G, NM_001326334.1:c.747A>G, NM_001326342.2:c.840A>G, NM_001326342.1:c.840A>G, NM_001326349.2:c.747A>G, NM_001326349.1:c.747A>G, NM_001326319.2:c.747A>G, NM_001326319.1:c.747A>G, NM_001326336.2:c.819A>G, NM_001326336.1:c.819A>G, NM_001326339.2:c.486A>G, NM_001326339.1:c.486A>G, NM_001326338.2:c.486A>G, NM_001326338.1:c.486A>G, NM_001326321.2:c.747A>G, NM_001326321.1:c.747A>G, NM_001326318.2:c.747A>G, NM_001326318.1:c.747A>G, NM_001326317.2:c.747A>G, NM_001326317.1:c.747A>G, NM_001326333.2:c.135A>G, NM_001326333.1:c.135A>G, NM_001025076.2:c.747A>G, NM_001326341.2:c.840A>G, NM_001326341.1:c.840A>G, NM_001326323.2:c.747A>G, NM_001326323.1:c.747A>G, NM_001326328.2:c.747A>G, NM_001326328.1:c.747A>G, NM_001326320.2:c.747A>G, NM_001326320.1:c.747A>G, NM_001326348.2:c.747A>G, NM_001326348.1:c.747A>G, NM_001326325.2:c.912A>G, NM_001326325.1:c.912A>G, XM_024447776.2:c.819A>G, XM_024447776.1:c.819A>G, NM_001326331.2:c.819A>G, NM_001326331.1:c.819A>G, NM_001326327.2:c.855A>G, NM_001326327.1:c.855A>G, NM_001326335.2:c.819A>G, NM_001326335.1:c.819A>G, NM_001326332.2:c.819A>G, NM_001326332.1:c.819A>G, NM_001326326.2:c.855A>G, NM_001326326.1:c.855A>G, NM_001326345.2:c.747A>G, NM_001326345.1:c.747A>G, NM_001326324.2:c.747A>G, NM_001326324.1:c.747A>G, NM_001326346.2:c.135A>G, NM_001326346.1:c.135A>G, NM_001326344.2:c.747A>G, NM_001326344.1:c.747A>G, NM_001326337.2:c.819A>G, NM_001326337.1:c.819A>G, NM_001394519.1:c.840A>G, NM_001394513.1:c.840A>G, NM_001394517.1:c.747A>G, NM_001394502.1:c.819A>G, XM_047424503.1:c.747A>G, XM_047424506.1:c.855A>G, XM_047424486.1:c.840A>G, XM_047424489.1:c.747A>G, NM_001394518.1:c.840A>G, NM_001083591.1:c.747A>G, XM_047424492.1:c.747A>G, XM_047424495.1:c.747A>G, XM_047424485.1:c.855A>G, XM_047424494.1:c.747A>G, XM_047424491.1:c.747A>G, XM_047424484.1:c.855A>G, XM_047424482.1:c.912A>G, XM_047424502.1:c.747A>G, XM_047424483.1:c.912A>G, XM_047424493.1:c.747A>G, XM_047424499.1:c.747A>G, XM_047424496.1:c.747A>G, XM_047424490.1:c.747A>G, XM_047424487.1:c.855A>G, XM_047424498.1:c.747A>G, XM_047424501.1:c.747A>G, XM_047424505.1:c.747A>G, XM_047424507.1:c.840A>G, XM_047424504.1:c.747A>G, XM_047424500.1:c.747A>G, XM_047424509.1:c.486A>G, XM_047424488.1:c.747A>G, XM_047424510.1:c.135A>G, NM_001326347.1:c.771A>G, XM_047424508.1:c.747A>G

          5.

          rs1481622412 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            10:11018159 (GRCh38)
            10:11060122 (GRCh37)
            Canonical SPDI:
            NC_000010.11:11018158:A:C
            Gene:
            CELF2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000005/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1473402034 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              10:11314179 (GRCh38)
              10:11356142 (GRCh37)
              Canonical SPDI:
              NC_000010.11:11314178:G:C
              Gene:
              CELF2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.11314179G>C, NC_000010.10:g.11356142G>C, NM_006561.4:c.1017G>C, NM_006561.3:c.1017G>C, NM_001025077.3:c.996G>C, NM_001025077.2:c.996G>C, NM_001326330.2:c.924G>C, NM_001326330.1:c.924G>C, NM_001326343.2:c.1017G>C, NM_001326343.1:c.1017G>C, NM_001326329.2:c.924G>C, NM_001326329.1:c.924G>C, NM_001326340.2:c.1017G>C, NM_001326340.1:c.1017G>C, NM_001326334.2:c.924G>C, NM_001326334.1:c.924G>C, NM_001326342.2:c.1017G>C, NM_001326342.1:c.1017G>C, NM_001326349.2:c.924G>C, NM_001326349.1:c.924G>C, NM_001326319.2:c.924G>C, NM_001326319.1:c.924G>C, NM_001326336.2:c.996G>C, NM_001326336.1:c.996G>C, NM_001326339.2:c.663G>C, NM_001326339.1:c.663G>C, NM_001326338.2:c.663G>C, NM_001326338.1:c.663G>C, NM_001326321.2:c.924G>C, NM_001326321.1:c.924G>C, NM_001326318.2:c.924G>C, NM_001326318.1:c.924G>C, NM_001326317.2:c.924G>C, NM_001326317.1:c.924G>C, NM_001326333.2:c.312G>C, NM_001326333.1:c.312G>C, NM_001025076.2:c.924G>C, NM_001326341.2:c.1017G>C, NM_001326341.1:c.1017G>C, NM_001326323.2:c.924G>C, NM_001326323.1:c.924G>C, NM_001326328.2:c.924G>C, NM_001326328.1:c.924G>C, NM_001326320.2:c.924G>C, NM_001326320.1:c.924G>C, NM_001326348.2:c.924G>C, NM_001326348.1:c.924G>C, NM_001326325.2:c.1089G>C, NM_001326325.1:c.1089G>C, XM_024447776.2:c.996G>C, XM_024447776.1:c.996G>C, NM_001326331.2:c.996G>C, NM_001326331.1:c.996G>C, NM_001326327.2:c.1032G>C, NM_001326327.1:c.1032G>C, NM_001326335.2:c.996G>C, NM_001326335.1:c.996G>C, NM_001326332.2:c.996G>C, NM_001326332.1:c.996G>C, NM_001326326.2:c.1032G>C, NM_001326326.1:c.1032G>C, NM_001326345.2:c.924G>C, NM_001326345.1:c.924G>C, NM_001326324.2:c.924G>C, NM_001326324.1:c.924G>C, NM_001326346.2:c.312G>C, NM_001326346.1:c.312G>C, NM_001326344.2:c.924G>C, NM_001326344.1:c.924G>C, NM_001326337.2:c.996G>C, NM_001326337.1:c.996G>C, NM_001394519.1:c.1017G>C, NM_001394513.1:c.1017G>C, NM_001394517.1:c.924G>C, NM_001394502.1:c.996G>C, XM_047424503.1:c.924G>C, XM_047424506.1:c.1032G>C, XM_047424486.1:c.1017G>C, XM_047424489.1:c.924G>C, NM_001394518.1:c.1017G>C, NM_001083591.1:c.924G>C, XM_047424492.1:c.924G>C, XM_047424495.1:c.924G>C, XM_047424485.1:c.1032G>C, XM_047424494.1:c.924G>C, XM_047424491.1:c.924G>C, XM_047424484.1:c.1032G>C, XM_047424482.1:c.1089G>C, XM_047424502.1:c.924G>C, XM_047424483.1:c.1089G>C, XM_047424493.1:c.924G>C, XM_047424499.1:c.924G>C, XM_047424496.1:c.924G>C, XM_047424490.1:c.924G>C, XM_047424487.1:c.1032G>C, XM_047424498.1:c.924G>C, XM_047424501.1:c.924G>C, XM_047424505.1:c.924G>C, XM_047424507.1:c.1017G>C, XM_047424504.1:c.924G>C, XM_047424500.1:c.924G>C, XM_047424509.1:c.663G>C, XM_047424488.1:c.924G>C, XM_047424510.1:c.312G>C, NM_001326347.1:c.948G>C, XM_047424508.1:c.924G>C, NP_006552.3:p.Met339Ile, NP_001020248.1:p.Met332Ile, NP_001313259.1:p.Met308Ile, NP_001313272.1:p.Met339Ile, NP_001313258.1:p.Met308Ile, NP_001313269.1:p.Met339Ile, NP_001313263.1:p.Met308Ile, NP_001313271.1:p.Met339Ile, NP_001313278.1:p.Met308Ile, NP_001313248.1:p.Met308Ile, NP_001313265.1:p.Met332Ile, NP_001313268.1:p.Met221Ile, NP_001313267.1:p.Met221Ile, NP_001313250.1:p.Met308Ile, NP_001313247.1:p.Met308Ile, NP_001313246.1:p.Met308Ile, NP_001313262.1:p.Met104Ile, NP_001020247.1:p.Met308Ile, NP_001313270.1:p.Met339Ile, NP_001313252.1:p.Met308Ile, NP_001313257.1:p.Met308Ile, NP_001313249.1:p.Met308Ile, NP_001313277.1:p.Met308Ile, NP_001313254.1:p.Met363Ile, XP_024303544.1:p.Met332Ile, NP_001313260.1:p.Met332Ile, NP_001313256.1:p.Met344Ile, NP_001313264.1:p.Met332Ile, NP_001313261.1:p.Met332Ile, NP_001313255.1:p.Met344Ile, NP_001313274.1:p.Met308Ile, NP_001313253.1:p.Met308Ile, NP_001313275.1:p.Met104Ile, NP_001313273.1:p.Met308Ile, NP_001313266.1:p.Met332Ile, NP_001381448.1:p.Met339Ile, NP_001381442.1:p.Met339Ile, NP_001381446.1:p.Met308Ile, NP_001381431.1:p.Met332Ile, XP_047280459.1:p.Met308Ile, XP_047280462.1:p.Met344Ile, XP_047280442.1:p.Met339Ile, XP_047280445.1:p.Met308Ile, NP_001381447.1:p.Met339Ile, NP_001077060.1:p.Met308Ile, XP_047280448.1:p.Met308Ile, XP_047280451.1:p.Met308Ile, XP_047280441.1:p.Met344Ile, XP_047280450.1:p.Met308Ile, XP_047280447.1:p.Met308Ile, XP_047280440.1:p.Met344Ile, XP_047280438.1:p.Met363Ile, XP_047280458.1:p.Met308Ile, XP_047280439.1:p.Met363Ile, XP_047280449.1:p.Met308Ile, XP_047280455.1:p.Met308Ile, XP_047280452.1:p.Met308Ile, XP_047280446.1:p.Met308Ile, XP_047280443.1:p.Met344Ile, XP_047280454.1:p.Met308Ile, XP_047280457.1:p.Met308Ile, XP_047280461.1:p.Met308Ile, XP_047280463.1:p.Met339Ile, XP_047280460.1:p.Met308Ile, XP_047280456.1:p.Met308Ile, XP_047280465.1:p.Met221Ile, XP_047280444.1:p.Met308Ile, XP_047280466.1:p.Met104Ile, NP_001313276.1:p.Met316Ile, XP_047280464.1:p.Met308Ile

              7.

              rs1471375557 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:11321223 (GRCh38)
                10:11363186 (GRCh37)
                Canonical SPDI:
                NC_000010.11:11321222:T:C
                Gene:
                CELF2 (Varview), CELF2-AS1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.11321223T>C, NC_000010.10:g.11363186T>C, NM_006561.4:c.1131T>C, NM_006561.3:c.1131T>C, NM_001025077.3:c.1092T>C, NM_001025077.2:c.1092T>C, NM_001326330.2:c.1038T>C, NM_001326330.1:c.1038T>C, NM_001326343.2:c.1185T>C, NM_001326343.1:c.1185T>C, NM_001326329.2:c.1020T>C, NM_001326329.1:c.1020T>C, NM_001326340.2:c.1167T>C, NM_001326340.1:c.1167T>C, NM_001326334.2:c.1038T>C, NM_001326334.1:c.1038T>C, NM_001326342.2:c.1131T>C, NM_001326342.1:c.1131T>C, NM_001326349.2:c.1038T>C, NM_001326349.1:c.1038T>C, NM_001326319.2:c.1092T>C, NM_001326319.1:c.1092T>C, NM_001326336.2:c.1164T>C, NM_001326336.1:c.1164T>C, NM_001326339.2:c.777T>C, NM_001326339.1:c.777T>C, NM_001326338.2:c.759T>C, NM_001326338.1:c.759T>C, NM_001326321.2:c.1062T>C, NM_001326321.1:c.1062T>C, NM_001326318.2:c.1038T>C, NM_001326318.1:c.1038T>C, NM_001326317.2:c.1020T>C, NM_001326317.1:c.1020T>C, NM_001326333.2:c.426T>C, NM_001326333.1:c.426T>C, NM_001025076.2:c.1038T>C, NM_001326341.2:c.1113T>C, NM_001326341.1:c.1113T>C, NM_001326323.2:c.1080T>C, NM_001326323.1:c.1080T>C, NM_001326328.2:c.1038T>C, NM_001326328.1:c.1038T>C, NM_001326320.2:c.1038T>C, NM_001326320.1:c.1038T>C, NM_001326348.2:c.1020T>C, NM_001326348.1:c.1020T>C, NM_001326325.2:c.1185T>C, NM_001326325.1:c.1185T>C, XM_024447776.2:c.1122T>C, XM_024447776.1:c.1122T>C, NM_001326331.2:c.1110T>C, NM_001326331.1:c.1110T>C, NM_001326327.2:c.1146T>C, NM_001326327.1:c.1146T>C, NM_001326335.2:c.1104T>C, NM_001326335.1:c.1104T>C, NM_001326332.2:c.1092T>C, NM_001326332.1:c.1092T>C, NM_001326326.2:c.1128T>C, NM_001326326.1:c.1128T>C, NM_001326345.2:c.1038T>C, NM_001326345.1:c.1038T>C, NM_001326324.2:c.1038T>C, NM_001326324.1:c.1038T>C, NM_001326346.2:c.408T>C, NM_001326346.1:c.408T>C, NM_001326344.2:c.1020T>C, NM_001326344.1:c.1020T>C, NM_001394519.1:c.1125T>C, NM_001394513.1:c.1113T>C, NM_001394517.1:c.1020T>C, NM_001394502.1:c.1110T>C, XM_047424503.1:c.1038T>C, XM_047424486.1:c.1143T>C, XM_047424489.1:c.1050T>C, NM_001394518.1:c.1125T>C, NM_001083591.1:c.1032T>C, XM_047424492.1:c.1050T>C, XM_047424495.1:c.1050T>C, XM_047424485.1:c.1158T>C, XM_047424494.1:c.1050T>C, XM_047424491.1:c.1050T>C, XM_047424484.1:c.1158T>C, XM_047424482.1:c.1215T>C, XM_047424502.1:c.1038T>C, XM_047424483.1:c.1203T>C, XM_047424493.1:c.1050T>C, XM_047424499.1:c.1050T>C, XM_047424496.1:c.1050T>C, XM_047424490.1:c.1050T>C, XM_047424487.1:c.1140T>C, XM_047424498.1:c.1050T>C, XM_047424501.1:c.1038T>C, XM_047424505.1:c.1020T>C, XM_047424504.1:c.1032T>C, XM_047424500.1:c.1050T>C, XM_047424509.1:c.789T>C, XM_047424510.1:c.438T>C, NM_001326347.1:c.1056T>C

                8.

                rs1470679085 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:11275094 (GRCh38)
                  10:11317057 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:11275093:C:T
                  Gene:
                  CELF2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000008/2 (GnomAD_exomes)
                  T=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000010.11:g.11275094C>T, NC_000010.10:g.11317057C>T, NM_006561.4:c.815C>T, NM_006561.3:c.815C>T, NM_001025077.3:c.794C>T, NM_001025077.2:c.794C>T, NM_001326330.2:c.722C>T, NM_001326330.1:c.722C>T, NM_001326343.2:c.815C>T, NM_001326343.1:c.815C>T, NM_001326329.2:c.722C>T, NM_001326329.1:c.722C>T, NM_001326340.2:c.815C>T, NM_001326340.1:c.815C>T, NM_001326334.2:c.722C>T, NM_001326334.1:c.722C>T, NM_001326342.2:c.815C>T, NM_001326342.1:c.815C>T, NM_001326349.2:c.722C>T, NM_001326349.1:c.722C>T, NM_001326319.2:c.722C>T, NM_001326319.1:c.722C>T, NM_001326336.2:c.794C>T, NM_001326336.1:c.794C>T, NM_001326339.2:c.461C>T, NM_001326339.1:c.461C>T, NM_001326338.2:c.461C>T, NM_001326338.1:c.461C>T, NM_001326321.2:c.722C>T, NM_001326321.1:c.722C>T, NM_001326318.2:c.722C>T, NM_001326318.1:c.722C>T, NM_001326317.2:c.722C>T, NM_001326317.1:c.722C>T, NM_001326333.2:c.110C>T, NM_001326333.1:c.110C>T, NM_001025076.2:c.722C>T, NM_001326341.2:c.815C>T, NM_001326341.1:c.815C>T, NM_001326323.2:c.722C>T, NM_001326323.1:c.722C>T, NM_001326328.2:c.722C>T, NM_001326328.1:c.722C>T, NM_001326320.2:c.722C>T, NM_001326320.1:c.722C>T, NM_001326348.2:c.722C>T, NM_001326348.1:c.722C>T, NM_001326325.2:c.887C>T, NM_001326325.1:c.887C>T, XM_024447776.2:c.794C>T, XM_024447776.1:c.794C>T, NM_001326331.2:c.794C>T, NM_001326331.1:c.794C>T, NM_001326327.2:c.830C>T, NM_001326327.1:c.830C>T, NM_001326335.2:c.794C>T, NM_001326335.1:c.794C>T, NM_001326332.2:c.794C>T, NM_001326332.1:c.794C>T, NM_001326326.2:c.830C>T, NM_001326326.1:c.830C>T, NM_001326345.2:c.722C>T, NM_001326345.1:c.722C>T, NM_001326324.2:c.722C>T, NM_001326324.1:c.722C>T, NM_001326346.2:c.110C>T, NM_001326346.1:c.110C>T, NM_001326344.2:c.722C>T, NM_001326344.1:c.722C>T, NM_001326337.2:c.794C>T, NM_001326337.1:c.794C>T, NM_001394519.1:c.815C>T, NM_001394513.1:c.815C>T, NM_001394517.1:c.722C>T, NM_001394502.1:c.794C>T, XM_047424503.1:c.722C>T, XM_047424506.1:c.830C>T, XM_047424486.1:c.815C>T, XM_047424489.1:c.722C>T, NM_001394518.1:c.815C>T, NM_001083591.1:c.722C>T, XM_047424492.1:c.722C>T, XM_047424495.1:c.722C>T, XM_047424485.1:c.830C>T, XM_047424494.1:c.722C>T, XM_047424491.1:c.722C>T, XM_047424484.1:c.830C>T, XM_047424482.1:c.887C>T, XM_047424502.1:c.722C>T, XM_047424483.1:c.887C>T, XM_047424493.1:c.722C>T, XM_047424499.1:c.722C>T, XM_047424496.1:c.722C>T, XM_047424490.1:c.722C>T, XM_047424487.1:c.830C>T, XM_047424498.1:c.722C>T, XM_047424501.1:c.722C>T, XM_047424505.1:c.722C>T, XM_047424507.1:c.815C>T, XM_047424504.1:c.722C>T, XM_047424500.1:c.722C>T, XM_047424509.1:c.461C>T, XM_047424488.1:c.722C>T, XM_047424510.1:c.110C>T, NM_001326347.1:c.746C>T, XM_047424508.1:c.722C>T, NP_006552.3:p.Ala272Val, NP_001020248.1:p.Ala265Val, NP_001313259.1:p.Ala241Val, NP_001313272.1:p.Ala272Val, NP_001313258.1:p.Ala241Val, NP_001313269.1:p.Ala272Val, NP_001313263.1:p.Ala241Val, NP_001313271.1:p.Ala272Val, NP_001313278.1:p.Ala241Val, NP_001313248.1:p.Ala241Val, NP_001313265.1:p.Ala265Val, NP_001313268.1:p.Ala154Val, NP_001313267.1:p.Ala154Val, NP_001313250.1:p.Ala241Val, NP_001313247.1:p.Ala241Val, NP_001313246.1:p.Ala241Val, NP_001313262.1:p.Ala37Val, NP_001020247.1:p.Ala241Val, NP_001313270.1:p.Ala272Val, NP_001313252.1:p.Ala241Val, NP_001313257.1:p.Ala241Val, NP_001313249.1:p.Ala241Val, NP_001313277.1:p.Ala241Val, NP_001313254.1:p.Ala296Val, XP_024303544.1:p.Ala265Val, NP_001313260.1:p.Ala265Val, NP_001313256.1:p.Ala277Val, NP_001313264.1:p.Ala265Val, NP_001313261.1:p.Ala265Val, NP_001313255.1:p.Ala277Val, NP_001313274.1:p.Ala241Val, NP_001313253.1:p.Ala241Val, NP_001313275.1:p.Ala37Val, NP_001313273.1:p.Ala241Val, NP_001313266.1:p.Ala265Val, NP_001381448.1:p.Ala272Val, NP_001381442.1:p.Ala272Val, NP_001381446.1:p.Ala241Val, NP_001381431.1:p.Ala265Val, XP_047280459.1:p.Ala241Val, XP_047280462.1:p.Ala277Val, XP_047280442.1:p.Ala272Val, XP_047280445.1:p.Ala241Val, NP_001381447.1:p.Ala272Val, NP_001077060.1:p.Ala241Val, XP_047280448.1:p.Ala241Val, XP_047280451.1:p.Ala241Val, XP_047280441.1:p.Ala277Val, XP_047280450.1:p.Ala241Val, XP_047280447.1:p.Ala241Val, XP_047280440.1:p.Ala277Val, XP_047280438.1:p.Ala296Val, XP_047280458.1:p.Ala241Val, XP_047280439.1:p.Ala296Val, XP_047280449.1:p.Ala241Val, XP_047280455.1:p.Ala241Val, XP_047280452.1:p.Ala241Val, XP_047280446.1:p.Ala241Val, XP_047280443.1:p.Ala277Val, XP_047280454.1:p.Ala241Val, XP_047280457.1:p.Ala241Val, XP_047280461.1:p.Ala241Val, XP_047280463.1:p.Ala272Val, XP_047280460.1:p.Ala241Val, XP_047280456.1:p.Ala241Val, XP_047280465.1:p.Ala154Val, XP_047280444.1:p.Ala241Val, XP_047280466.1:p.Ala37Val, NP_001313276.1:p.Ala249Val, XP_047280464.1:p.Ala241Val

                  9.

                  rs1470100558 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    10:11165651 (GRCh38)
                    10:11207614 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:11165650:G:C
                    Gene:
                    CELF2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.11165651G>C, NC_000010.10:g.11207614G>C, NM_006561.4:c.240G>C, NM_006561.3:c.240G>C, NM_001025077.3:c.219G>C, NM_001025077.2:c.219G>C, NM_001326330.2:c.147G>C, NM_001326330.1:c.147G>C, NM_001326343.2:c.240G>C, NM_001326343.1:c.240G>C, NM_001326329.2:c.147G>C, NM_001326329.1:c.147G>C, NM_001326340.2:c.240G>C, NM_001326340.1:c.240G>C, NM_001326334.2:c.147G>C, NM_001326334.1:c.147G>C, NM_001326342.2:c.240G>C, NM_001326342.1:c.240G>C, NM_001326349.2:c.147G>C, NM_001326349.1:c.147G>C, NM_001326319.2:c.147G>C, NM_001326319.1:c.147G>C, NM_001326336.2:c.219G>C, NM_001326336.1:c.219G>C, NM_001326339.2:c.-32G>C, NM_001326339.1:c.-32G>C, NM_001326338.2:c.-32G>C, NM_001326338.1:c.-32G>C, NM_001326321.2:c.147G>C, NM_001326321.1:c.147G>C, NM_001326318.2:c.147G>C, NM_001326318.1:c.147G>C, NM_001326317.2:c.147G>C, NM_001326317.1:c.147G>C, NM_001326333.2:c.-386G>C, NM_001326333.1:c.-386G>C, NM_001025076.2:c.147G>C, NM_001326341.2:c.240G>C, NM_001326341.1:c.240G>C, NM_001326323.2:c.147G>C, NM_001326323.1:c.147G>C, NM_001326328.2:c.147G>C, NM_001326328.1:c.147G>C, NM_001326320.2:c.147G>C, NM_001326320.1:c.147G>C, NM_001326348.2:c.147G>C, NM_001326348.1:c.147G>C, NM_001326325.2:c.312G>C, NM_001326325.1:c.312G>C, XM_024447776.2:c.219G>C, XM_024447776.1:c.219G>C, NM_001326331.2:c.219G>C, NM_001326331.1:c.219G>C, NM_001326327.2:c.255G>C, NM_001326327.1:c.255G>C, NM_001326335.2:c.219G>C, NM_001326335.1:c.219G>C, NM_001326332.2:c.219G>C, NM_001326332.1:c.219G>C, NM_001326326.2:c.255G>C, NM_001326326.1:c.255G>C, NM_001326345.2:c.147G>C, NM_001326345.1:c.147G>C, NM_001326324.2:c.147G>C, NM_001326324.1:c.147G>C, NM_001326346.2:c.-303G>C, NM_001326346.1:c.-303G>C, NM_001326344.2:c.147G>C, NM_001326344.1:c.147G>C, NM_001326337.2:c.219G>C, NM_001326337.1:c.219G>C, NM_001394519.1:c.240G>C, NM_001394513.1:c.240G>C, NM_001394517.1:c.147G>C, NM_001394502.1:c.219G>C, XM_047424503.1:c.147G>C, XM_047424506.1:c.255G>C, XM_047424486.1:c.240G>C, XM_047424489.1:c.147G>C, NM_001394518.1:c.240G>C, NM_001083591.1:c.147G>C, XM_047424492.1:c.147G>C, XM_047424495.1:c.147G>C, XM_047424485.1:c.255G>C, XM_047424494.1:c.147G>C, XM_047424491.1:c.147G>C, XM_047424484.1:c.255G>C, XM_047424482.1:c.312G>C, XM_047424502.1:c.147G>C, XM_047424483.1:c.312G>C, XM_047424493.1:c.147G>C, XM_047424499.1:c.147G>C, XM_047424496.1:c.147G>C, XM_047424490.1:c.147G>C, XM_047424487.1:c.255G>C, XM_047424498.1:c.147G>C, XM_047424501.1:c.147G>C, XM_047424505.1:c.147G>C, XM_047424507.1:c.240G>C, XM_047424504.1:c.147G>C, XM_047424500.1:c.147G>C, XM_047424509.1:c.-32G>C, XM_047424488.1:c.147G>C, NM_001326347.1:c.171G>C, XM_047424508.1:c.147G>C

                    10.

                    rs1469731413 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      10:11328970 (GRCh38)
                      10:11370933 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:11328969:C:G
                      Gene:
                      CELF2 (Varview), CELF2-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.11328970C>G, NC_000010.10:g.11370933C>G, NM_006561.4:c.1483C>G, NM_006561.3:c.1483C>G, NM_001025077.3:c.1444C>G, NM_001025077.2:c.1444C>G, NM_001326330.2:c.1390C>G, NM_001326330.1:c.1390C>G, NM_001326343.2:c.1537C>G, NM_001326343.1:c.1537C>G, NM_001326329.2:c.1372C>G, NM_001326329.1:c.1372C>G, NM_001326340.2:c.1519C>G, NM_001326340.1:c.1519C>G, NM_001326334.2:c.1390C>G, NM_001326334.1:c.1390C>G, NM_001326342.2:c.1483C>G, NM_001326342.1:c.1483C>G, NM_001326349.2:c.1390C>G, NM_001326349.1:c.1390C>G, NM_001326319.2:c.1444C>G, NM_001326319.1:c.1444C>G, NM_001326336.2:c.1516C>G, NM_001326336.1:c.1516C>G, NM_001326339.2:c.1129C>G, NM_001326339.1:c.1129C>G, NM_001326338.2:c.1111C>G, NM_001326338.1:c.1111C>G, NM_001326321.2:c.1414C>G, NM_001326321.1:c.1414C>G, NM_001326318.2:c.1390C>G, NM_001326318.1:c.1390C>G, NM_001326317.2:c.1372C>G, NM_001326317.1:c.1372C>G, NM_001326333.2:c.778C>G, NM_001326333.1:c.778C>G, NM_001025076.2:c.1390C>G, NM_001326341.2:c.1465C>G, NM_001326341.1:c.1465C>G, NM_001326323.2:c.1432C>G, NM_001326323.1:c.1432C>G, NM_001326328.2:c.1390C>G, NM_001326328.1:c.1390C>G, NM_001326320.2:c.1390C>G, NM_001326320.1:c.1390C>G, NM_001326348.2:c.1372C>G, NM_001326348.1:c.1372C>G, NM_001326325.2:c.1537C>G, NM_001326325.1:c.1537C>G, XM_024447776.2:c.1474C>G, XM_024447776.1:c.1474C>G, NM_001326331.2:c.1462C>G, NM_001326331.1:c.1462C>G, NM_001326327.2:c.1498C>G, NM_001326327.1:c.1498C>G, NM_001326335.2:c.1456C>G, NM_001326335.1:c.1456C>G, NM_001326332.2:c.1444C>G, NM_001326332.1:c.1444C>G, NM_001326326.2:c.1480C>G, NM_001326326.1:c.1480C>G, NM_001326345.2:c.1390C>G, NM_001326345.1:c.1390C>G, NM_001326324.2:c.1390C>G, NM_001326324.1:c.1390C>G, NM_001326346.2:c.760C>G, NM_001326346.1:c.760C>G, NM_001326344.2:c.1372C>G, NM_001326344.1:c.1372C>G, NM_001326337.2:c.1276C>G, NM_001326337.1:c.1276C>G, NM_001394519.1:c.1477C>G, NM_001394513.1:c.1465C>G, NM_001394517.1:c.1372C>G, NM_001394502.1:c.1462C>G, XM_047424503.1:c.1390C>G, XM_047424506.1:c.1312C>G, XM_047424486.1:c.1495C>G, XM_047424489.1:c.1402C>G, NM_001394518.1:c.1477C>G, NM_001083591.1:c.1384C>G, XM_047424492.1:c.1402C>G, XM_047424495.1:c.1402C>G, XM_047424485.1:c.1510C>G, XM_047424494.1:c.1402C>G, XM_047424491.1:c.1402C>G, XM_047424484.1:c.1510C>G, XM_047424482.1:c.1567C>G, XM_047424502.1:c.1390C>G, XM_047424483.1:c.1555C>G, XM_047424493.1:c.1402C>G, XM_047424499.1:c.1402C>G, XM_047424496.1:c.1402C>G, XM_047424490.1:c.1402C>G, XM_047424487.1:c.1492C>G, XM_047424498.1:c.1402C>G, XM_047424501.1:c.1390C>G, XM_047424505.1:c.1372C>G, XM_047424507.1:c.1297C>G, XM_047424504.1:c.1384C>G, XM_047424500.1:c.1402C>G, XM_047424509.1:c.1141C>G, XM_047424488.1:c.1204C>G, XM_047424510.1:c.790C>G, NM_001326347.1:c.1408C>G, NP_006552.3:p.Gln495Glu, NP_001020248.1:p.Gln482Glu, NP_001313259.1:p.Gln464Glu, NP_001313272.1:p.Gln513Glu, NP_001313258.1:p.Gln458Glu, NP_001313269.1:p.Gln507Glu, NP_001313263.1:p.Gln464Glu, NP_001313271.1:p.Gln495Glu, NP_001313278.1:p.Gln464Glu, NP_001313248.1:p.Gln482Glu, NP_001313265.1:p.Gln506Glu, NP_001313268.1:p.Gln377Glu, NP_001313267.1:p.Gln371Glu, NP_001313250.1:p.Gln472Glu, NP_001313247.1:p.Gln464Glu, NP_001313246.1:p.Gln458Glu, NP_001313262.1:p.Gln260Glu, NP_001020247.1:p.Gln464Glu, NP_001313270.1:p.Gln489Glu, NP_001313252.1:p.Gln478Glu, NP_001313257.1:p.Gln464Glu, NP_001313249.1:p.Gln464Glu, NP_001313277.1:p.Gln458Glu, NP_001313254.1:p.Gln513Glu, XP_024303544.1:p.Gln492Glu, NP_001313260.1:p.Gln488Glu, NP_001313256.1:p.Gln500Glu, NP_001313264.1:p.Gln486Glu, NP_001313261.1:p.Gln482Glu, NP_001313255.1:p.Gln494Glu, NP_001313274.1:p.Gln464Glu, NP_001313253.1:p.Gln464Glu, NP_001313275.1:p.Gln254Glu, NP_001313273.1:p.Gln458Glu, NP_001313266.1:p.Gln426Glu, NP_001381448.1:p.Gln493Glu, NP_001381442.1:p.Gln489Glu, NP_001381446.1:p.Gln458Glu, NP_001381431.1:p.Gln488Glu, XP_047280459.1:p.Gln464Glu, XP_047280462.1:p.Gln438Glu, XP_047280442.1:p.Gln499Glu, XP_047280445.1:p.Gln468Glu, NP_001381447.1:p.Gln493Glu, NP_001077060.1:p.Gln462Glu, XP_047280448.1:p.Gln468Glu, XP_047280451.1:p.Gln468Glu, XP_047280441.1:p.Gln504Glu, XP_047280450.1:p.Gln468Glu, XP_047280447.1:p.Gln468Glu, XP_047280440.1:p.Gln504Glu, XP_047280438.1:p.Gln523Glu, XP_047280458.1:p.Gln464Glu, XP_047280439.1:p.Gln519Glu, XP_047280449.1:p.Gln468Glu, XP_047280455.1:p.Gln468Glu, XP_047280452.1:p.Gln468Glu, XP_047280446.1:p.Gln468Glu, XP_047280443.1:p.Gln498Glu, XP_047280454.1:p.Gln468Glu, XP_047280457.1:p.Gln464Glu, XP_047280461.1:p.Gln458Glu, XP_047280463.1:p.Gln433Glu, XP_047280460.1:p.Gln462Glu, XP_047280456.1:p.Gln468Glu, XP_047280465.1:p.Gln381Glu, XP_047280444.1:p.Gln402Glu, XP_047280466.1:p.Gln264Glu, NP_001313276.1:p.Gln470Glu

                      11.

                      rs1468453906 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:11270737 (GRCh38)
                        10:11312700 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:11270736:G:A
                        Gene:
                        CELF2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000009/2 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.11270737G>A, NC_000010.10:g.11312700G>A, NM_006561.4:c.690G>A, NM_006561.3:c.690G>A, NM_001025077.3:c.669G>A, NM_001025077.2:c.669G>A, NM_001326330.2:c.597G>A, NM_001326330.1:c.597G>A, NM_001326343.2:c.690G>A, NM_001326343.1:c.690G>A, NM_001326329.2:c.597G>A, NM_001326329.1:c.597G>A, NM_001326340.2:c.690G>A, NM_001326340.1:c.690G>A, NM_001326334.2:c.597G>A, NM_001326334.1:c.597G>A, NM_001326342.2:c.690G>A, NM_001326342.1:c.690G>A, NM_001326349.2:c.597G>A, NM_001326349.1:c.597G>A, NM_001326319.2:c.597G>A, NM_001326319.1:c.597G>A, NM_001326336.2:c.669G>A, NM_001326336.1:c.669G>A, NM_001326339.2:c.336G>A, NM_001326339.1:c.336G>A, NM_001326338.2:c.336G>A, NM_001326338.1:c.336G>A, NM_001326321.2:c.597G>A, NM_001326321.1:c.597G>A, NM_001326318.2:c.597G>A, NM_001326318.1:c.597G>A, NM_001326317.2:c.597G>A, NM_001326317.1:c.597G>A, NM_001326333.2:c.-16G>A, NM_001326333.1:c.-16G>A, NM_001025076.2:c.597G>A, NM_001326341.2:c.690G>A, NM_001326341.1:c.690G>A, NM_001326323.2:c.597G>A, NM_001326323.1:c.597G>A, NM_001326328.2:c.597G>A, NM_001326328.1:c.597G>A, NM_001326320.2:c.597G>A, NM_001326320.1:c.597G>A, NM_001326348.2:c.597G>A, NM_001326348.1:c.597G>A, NM_001326325.2:c.762G>A, NM_001326325.1:c.762G>A, XM_024447776.2:c.669G>A, XM_024447776.1:c.669G>A, NM_001326331.2:c.669G>A, NM_001326331.1:c.669G>A, NM_001326327.2:c.705G>A, NM_001326327.1:c.705G>A, NM_001326335.2:c.669G>A, NM_001326335.1:c.669G>A, NM_001326332.2:c.669G>A, NM_001326332.1:c.669G>A, NM_001326326.2:c.705G>A, NM_001326326.1:c.705G>A, NM_001326345.2:c.597G>A, NM_001326345.1:c.597G>A, NM_001326324.2:c.597G>A, NM_001326324.1:c.597G>A, NM_001326346.2:c.-16G>A, NM_001326346.1:c.-16G>A, NM_001326344.2:c.597G>A, NM_001326344.1:c.597G>A, NM_001326337.2:c.669G>A, NM_001326337.1:c.669G>A, NM_001394519.1:c.690G>A, NM_001394513.1:c.690G>A, NM_001394517.1:c.597G>A, NM_001394502.1:c.669G>A, XM_047424503.1:c.597G>A, XM_047424506.1:c.705G>A, XM_047424486.1:c.690G>A, XM_047424489.1:c.597G>A, NM_001394518.1:c.690G>A, NM_001083591.1:c.597G>A, XM_047424492.1:c.597G>A, XM_047424495.1:c.597G>A, XM_047424485.1:c.705G>A, XM_047424494.1:c.597G>A, XM_047424491.1:c.597G>A, XM_047424484.1:c.705G>A, XM_047424482.1:c.762G>A, XM_047424502.1:c.597G>A, XM_047424483.1:c.762G>A, XM_047424493.1:c.597G>A, XM_047424499.1:c.597G>A, XM_047424496.1:c.597G>A, XM_047424490.1:c.597G>A, XM_047424487.1:c.705G>A, XM_047424498.1:c.597G>A, XM_047424501.1:c.597G>A, XM_047424505.1:c.597G>A, XM_047424507.1:c.690G>A, XM_047424504.1:c.597G>A, XM_047424500.1:c.597G>A, XM_047424509.1:c.336G>A, XM_047424488.1:c.597G>A, XM_047424510.1:c.-16G>A, NM_001326347.1:c.621G>A, XM_047424508.1:c.597G>A

                        12.

                        rs1467255027 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:11165488 (GRCh38)
                          10:11207451 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:11165487:A:G
                          Gene:
                          CELF2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000007/1 (GnomAD)
                          G=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000010.11:g.11165488A>G, NC_000010.10:g.11207451A>G, NM_006561.4:c.77A>G, NM_006561.3:c.77A>G, NM_001025077.3:c.56A>G, NM_001025077.2:c.56A>G, NM_001326330.2:c.-17A>G, NM_001326330.1:c.-17A>G, NM_001326343.2:c.77A>G, NM_001326343.1:c.77A>G, NM_001326329.2:c.-17A>G, NM_001326329.1:c.-17A>G, NM_001326340.2:c.77A>G, NM_001326340.1:c.77A>G, NM_001326334.2:c.-17A>G, NM_001326334.1:c.-17A>G, NM_001326342.2:c.77A>G, NM_001326342.1:c.77A>G, NM_001326349.2:c.-17A>G, NM_001326349.1:c.-17A>G, NM_001326319.2:c.-17A>G, NM_001326319.1:c.-17A>G, NM_001326336.2:c.56A>G, NM_001326336.1:c.56A>G, NM_001326339.2:c.-195A>G, NM_001326339.1:c.-195A>G, NM_001326338.2:c.-195A>G, NM_001326338.1:c.-195A>G, NM_001326321.2:c.-17A>G, NM_001326321.1:c.-17A>G, NM_001326318.2:c.-17A>G, NM_001326318.1:c.-17A>G, NM_001326317.2:c.-17A>G, NM_001326317.1:c.-17A>G, NM_001326333.2:c.-549A>G, NM_001326333.1:c.-549A>G, NM_001025076.2:c.-17A>G, NM_001326341.2:c.77A>G, NM_001326341.1:c.77A>G, NM_001326323.2:c.-17A>G, NM_001326323.1:c.-17A>G, NM_001326328.2:c.-17A>G, NM_001326328.1:c.-17A>G, NM_001326320.2:c.-17A>G, NM_001326320.1:c.-17A>G, NM_001326348.2:c.-17A>G, NM_001326348.1:c.-17A>G, NM_001326325.2:c.149A>G, NM_001326325.1:c.149A>G, XM_024447776.2:c.56A>G, XM_024447776.1:c.56A>G, NM_001326331.2:c.56A>G, NM_001326331.1:c.56A>G, NM_001326327.2:c.92A>G, NM_001326327.1:c.92A>G, NM_001326335.2:c.56A>G, NM_001326335.1:c.56A>G, NM_001326332.2:c.56A>G, NM_001326332.1:c.56A>G, NM_001326326.2:c.92A>G, NM_001326326.1:c.92A>G, NM_001326345.2:c.-17A>G, NM_001326345.1:c.-17A>G, NM_001326324.2:c.-17A>G, NM_001326324.1:c.-17A>G, NM_001326346.2:c.-466A>G, NM_001326346.1:c.-466A>G, NM_001326344.2:c.-17A>G, NM_001326344.1:c.-17A>G, NM_001326337.2:c.56A>G, NM_001326337.1:c.56A>G, NM_001394519.1:c.77A>G, NM_001394513.1:c.77A>G, NM_001394517.1:c.-17A>G, NM_001394502.1:c.56A>G, XM_047424503.1:c.-17A>G, XM_047424506.1:c.92A>G, XM_047424486.1:c.77A>G, XM_047424489.1:c.-17A>G, NM_001394518.1:c.77A>G, NM_001083591.1:c.-17A>G, XM_047424492.1:c.-17A>G, XM_047424495.1:c.-17A>G, XM_047424485.1:c.92A>G, XM_047424494.1:c.-17A>G, XM_047424491.1:c.-17A>G, XM_047424484.1:c.92A>G, XM_047424482.1:c.149A>G, XM_047424502.1:c.-17A>G, XM_047424483.1:c.149A>G, XM_047424493.1:c.-17A>G, XM_047424499.1:c.-17A>G, XM_047424496.1:c.-17A>G, XM_047424490.1:c.-17A>G, XM_047424487.1:c.92A>G, XM_047424498.1:c.-17A>G, XM_047424501.1:c.-17A>G, XM_047424505.1:c.-17A>G, XM_047424507.1:c.77A>G, XM_047424504.1:c.-17A>G, XM_047424500.1:c.-17A>G, XM_047424509.1:c.-195A>G, XM_047424488.1:c.-17A>G, NM_001326347.1:c.8A>G, XM_047424508.1:c.-17A>G, NP_006552.3:p.Asn26Ser, NP_001020248.1:p.Asn19Ser, NP_001313272.1:p.Asn26Ser, NP_001313269.1:p.Asn26Ser, NP_001313271.1:p.Asn26Ser, NP_001313265.1:p.Asn19Ser, NP_001313270.1:p.Asn26Ser, NP_001313254.1:p.Asn50Ser, XP_024303544.1:p.Asn19Ser, NP_001313260.1:p.Asn19Ser, NP_001313256.1:p.Asn31Ser, NP_001313264.1:p.Asn19Ser, NP_001313261.1:p.Asn19Ser, NP_001313255.1:p.Asn31Ser, NP_001313266.1:p.Asn19Ser, NP_001381448.1:p.Asn26Ser, NP_001381442.1:p.Asn26Ser, NP_001381431.1:p.Asn19Ser, XP_047280462.1:p.Asn31Ser, XP_047280442.1:p.Asn26Ser, NP_001381447.1:p.Asn26Ser, XP_047280441.1:p.Asn31Ser, XP_047280440.1:p.Asn31Ser, XP_047280438.1:p.Asn50Ser, XP_047280439.1:p.Asn50Ser, XP_047280443.1:p.Asn31Ser, XP_047280463.1:p.Asn26Ser, NP_001313276.1:p.Asn3Ser

                          13.

                          rs1465990713 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:11288537 (GRCh38)
                            10:11330500 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:11288536:G:A
                            Gene:
                            CELF2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.11288537G>A, NC_000010.10:g.11330500G>A, NM_006561.4:c.961G>A, NM_006561.3:c.961G>A, NM_001025077.3:c.940G>A, NM_001025077.2:c.940G>A, NM_001326330.2:c.868G>A, NM_001326330.1:c.868G>A, NM_001326343.2:c.961G>A, NM_001326343.1:c.961G>A, NM_001326329.2:c.868G>A, NM_001326329.1:c.868G>A, NM_001326340.2:c.961G>A, NM_001326340.1:c.961G>A, NM_001326334.2:c.868G>A, NM_001326334.1:c.868G>A, NM_001326342.2:c.961G>A, NM_001326342.1:c.961G>A, NM_001326349.2:c.868G>A, NM_001326349.1:c.868G>A, NM_001326319.2:c.868G>A, NM_001326319.1:c.868G>A, NM_001326336.2:c.940G>A, NM_001326336.1:c.940G>A, NM_001326339.2:c.607G>A, NM_001326339.1:c.607G>A, NM_001326338.2:c.607G>A, NM_001326338.1:c.607G>A, NM_001326321.2:c.868G>A, NM_001326321.1:c.868G>A, NM_001326318.2:c.868G>A, NM_001326318.1:c.868G>A, NM_001326317.2:c.868G>A, NM_001326317.1:c.868G>A, NM_001326333.2:c.256G>A, NM_001326333.1:c.256G>A, NM_001025076.2:c.868G>A, NM_001326341.2:c.961G>A, NM_001326341.1:c.961G>A, NM_001326323.2:c.868G>A, NM_001326323.1:c.868G>A, NM_001326328.2:c.868G>A, NM_001326328.1:c.868G>A, NM_001326320.2:c.868G>A, NM_001326320.1:c.868G>A, NM_001326348.2:c.868G>A, NM_001326348.1:c.868G>A, NM_001326325.2:c.1033G>A, NM_001326325.1:c.1033G>A, XM_024447776.2:c.940G>A, XM_024447776.1:c.940G>A, NM_001326331.2:c.940G>A, NM_001326331.1:c.940G>A, NM_001326327.2:c.976G>A, NM_001326327.1:c.976G>A, NM_001326335.2:c.940G>A, NM_001326335.1:c.940G>A, NM_001326332.2:c.940G>A, NM_001326332.1:c.940G>A, NM_001326326.2:c.976G>A, NM_001326326.1:c.976G>A, NM_001326345.2:c.868G>A, NM_001326345.1:c.868G>A, NM_001326324.2:c.868G>A, NM_001326324.1:c.868G>A, NM_001326346.2:c.256G>A, NM_001326346.1:c.256G>A, NM_001326344.2:c.868G>A, NM_001326344.1:c.868G>A, NM_001326337.2:c.940G>A, NM_001326337.1:c.940G>A, NM_001394519.1:c.961G>A, NM_001394513.1:c.961G>A, NM_001394517.1:c.868G>A, NM_001394502.1:c.940G>A, XM_047424503.1:c.868G>A, XM_047424506.1:c.976G>A, XM_047424486.1:c.961G>A, XM_047424489.1:c.868G>A, NM_001394518.1:c.961G>A, NM_001083591.1:c.868G>A, XM_047424492.1:c.868G>A, XM_047424495.1:c.868G>A, XM_047424485.1:c.976G>A, XM_047424494.1:c.868G>A, XM_047424491.1:c.868G>A, XM_047424484.1:c.976G>A, XM_047424482.1:c.1033G>A, XM_047424502.1:c.868G>A, XM_047424483.1:c.1033G>A, XM_047424493.1:c.868G>A, XM_047424499.1:c.868G>A, XM_047424496.1:c.868G>A, XM_047424490.1:c.868G>A, XM_047424487.1:c.976G>A, XM_047424498.1:c.868G>A, XM_047424501.1:c.868G>A, XM_047424505.1:c.868G>A, XM_047424507.1:c.961G>A, XM_047424504.1:c.868G>A, XM_047424500.1:c.868G>A, XM_047424509.1:c.607G>A, XM_047424488.1:c.868G>A, XM_047424510.1:c.256G>A, NM_001326347.1:c.892G>A, XM_047424508.1:c.868G>A, NP_006552.3:p.Ala321Thr, NP_001020248.1:p.Ala314Thr, NP_001313259.1:p.Ala290Thr, NP_001313272.1:p.Ala321Thr, NP_001313258.1:p.Ala290Thr, NP_001313269.1:p.Ala321Thr, NP_001313263.1:p.Ala290Thr, NP_001313271.1:p.Ala321Thr, NP_001313278.1:p.Ala290Thr, NP_001313248.1:p.Ala290Thr, NP_001313265.1:p.Ala314Thr, NP_001313268.1:p.Ala203Thr, NP_001313267.1:p.Ala203Thr, NP_001313250.1:p.Ala290Thr, NP_001313247.1:p.Ala290Thr, NP_001313246.1:p.Ala290Thr, NP_001313262.1:p.Ala86Thr, NP_001020247.1:p.Ala290Thr, NP_001313270.1:p.Ala321Thr, NP_001313252.1:p.Ala290Thr, NP_001313257.1:p.Ala290Thr, NP_001313249.1:p.Ala290Thr, NP_001313277.1:p.Ala290Thr, NP_001313254.1:p.Ala345Thr, XP_024303544.1:p.Ala314Thr, NP_001313260.1:p.Ala314Thr, NP_001313256.1:p.Ala326Thr, NP_001313264.1:p.Ala314Thr, NP_001313261.1:p.Ala314Thr, NP_001313255.1:p.Ala326Thr, NP_001313274.1:p.Ala290Thr, NP_001313253.1:p.Ala290Thr, NP_001313275.1:p.Ala86Thr, NP_001313273.1:p.Ala290Thr, NP_001313266.1:p.Ala314Thr, NP_001381448.1:p.Ala321Thr, NP_001381442.1:p.Ala321Thr, NP_001381446.1:p.Ala290Thr, NP_001381431.1:p.Ala314Thr, XP_047280459.1:p.Ala290Thr, XP_047280462.1:p.Ala326Thr, XP_047280442.1:p.Ala321Thr, XP_047280445.1:p.Ala290Thr, NP_001381447.1:p.Ala321Thr, NP_001077060.1:p.Ala290Thr, XP_047280448.1:p.Ala290Thr, XP_047280451.1:p.Ala290Thr, XP_047280441.1:p.Ala326Thr, XP_047280450.1:p.Ala290Thr, XP_047280447.1:p.Ala290Thr, XP_047280440.1:p.Ala326Thr, XP_047280438.1:p.Ala345Thr, XP_047280458.1:p.Ala290Thr, XP_047280439.1:p.Ala345Thr, XP_047280449.1:p.Ala290Thr, XP_047280455.1:p.Ala290Thr, XP_047280452.1:p.Ala290Thr, XP_047280446.1:p.Ala290Thr, XP_047280443.1:p.Ala326Thr, XP_047280454.1:p.Ala290Thr, XP_047280457.1:p.Ala290Thr, XP_047280461.1:p.Ala290Thr, XP_047280463.1:p.Ala321Thr, XP_047280460.1:p.Ala290Thr, XP_047280456.1:p.Ala290Thr, XP_047280465.1:p.Ala203Thr, XP_047280444.1:p.Ala290Thr, XP_047280466.1:p.Ala86Thr, NP_001313276.1:p.Ala298Thr, XP_047280464.1:p.Ala290Thr

                            14.

                            rs1464110571 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:11288506 (GRCh38)
                              10:11330469 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:11288505:C:T
                              Gene:
                              CELF2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.00068/2 (KOREAN)
                              HGVS:
                              NC_000010.11:g.11288506C>T, NC_000010.10:g.11330469C>T, NM_006561.4:c.930C>T, NM_006561.3:c.930C>T, NM_001025077.3:c.909C>T, NM_001025077.2:c.909C>T, NM_001326330.2:c.837C>T, NM_001326330.1:c.837C>T, NM_001326343.2:c.930C>T, NM_001326343.1:c.930C>T, NM_001326329.2:c.837C>T, NM_001326329.1:c.837C>T, NM_001326340.2:c.930C>T, NM_001326340.1:c.930C>T, NM_001326334.2:c.837C>T, NM_001326334.1:c.837C>T, NM_001326342.2:c.930C>T, NM_001326342.1:c.930C>T, NM_001326349.2:c.837C>T, NM_001326349.1:c.837C>T, NM_001326319.2:c.837C>T, NM_001326319.1:c.837C>T, NM_001326336.2:c.909C>T, NM_001326336.1:c.909C>T, NM_001326339.2:c.576C>T, NM_001326339.1:c.576C>T, NM_001326338.2:c.576C>T, NM_001326338.1:c.576C>T, NM_001326321.2:c.837C>T, NM_001326321.1:c.837C>T, NM_001326318.2:c.837C>T, NM_001326318.1:c.837C>T, NM_001326317.2:c.837C>T, NM_001326317.1:c.837C>T, NM_001326333.2:c.225C>T, NM_001326333.1:c.225C>T, NM_001025076.2:c.837C>T, NM_001326341.2:c.930C>T, NM_001326341.1:c.930C>T, NM_001326323.2:c.837C>T, NM_001326323.1:c.837C>T, NM_001326328.2:c.837C>T, NM_001326328.1:c.837C>T, NM_001326320.2:c.837C>T, NM_001326320.1:c.837C>T, NM_001326348.2:c.837C>T, NM_001326348.1:c.837C>T, NM_001326325.2:c.1002C>T, NM_001326325.1:c.1002C>T, XM_024447776.2:c.909C>T, XM_024447776.1:c.909C>T, NM_001326331.2:c.909C>T, NM_001326331.1:c.909C>T, NM_001326327.2:c.945C>T, NM_001326327.1:c.945C>T, NM_001326335.2:c.909C>T, NM_001326335.1:c.909C>T, NM_001326332.2:c.909C>T, NM_001326332.1:c.909C>T, NM_001326326.2:c.945C>T, NM_001326326.1:c.945C>T, NM_001326345.2:c.837C>T, NM_001326345.1:c.837C>T, NM_001326324.2:c.837C>T, NM_001326324.1:c.837C>T, NM_001326346.2:c.225C>T, NM_001326346.1:c.225C>T, NM_001326344.2:c.837C>T, NM_001326344.1:c.837C>T, NM_001326337.2:c.909C>T, NM_001326337.1:c.909C>T, NM_001394519.1:c.930C>T, NM_001394513.1:c.930C>T, NM_001394517.1:c.837C>T, NM_001394502.1:c.909C>T, XM_047424503.1:c.837C>T, XM_047424506.1:c.945C>T, XM_047424486.1:c.930C>T, XM_047424489.1:c.837C>T, NM_001394518.1:c.930C>T, NM_001083591.1:c.837C>T, XM_047424492.1:c.837C>T, XM_047424495.1:c.837C>T, XM_047424485.1:c.945C>T, XM_047424494.1:c.837C>T, XM_047424491.1:c.837C>T, XM_047424484.1:c.945C>T, XM_047424482.1:c.1002C>T, XM_047424502.1:c.837C>T, XM_047424483.1:c.1002C>T, XM_047424493.1:c.837C>T, XM_047424499.1:c.837C>T, XM_047424496.1:c.837C>T, XM_047424490.1:c.837C>T, XM_047424487.1:c.945C>T, XM_047424498.1:c.837C>T, XM_047424501.1:c.837C>T, XM_047424505.1:c.837C>T, XM_047424507.1:c.930C>T, XM_047424504.1:c.837C>T, XM_047424500.1:c.837C>T, XM_047424509.1:c.576C>T, XM_047424488.1:c.837C>T, XM_047424510.1:c.225C>T, NM_001326347.1:c.861C>T, XM_047424508.1:c.837C>T

                              15.

                              rs1460946883 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                10:11328935 (GRCh38)
                                10:11370898 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:11328934:G:C
                                Gene:
                                CELF2 (Varview), CELF2-AS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.11328935G>C, NC_000010.10:g.11370898G>C, NM_006561.4:c.1448G>C, NM_006561.3:c.1448G>C, NM_001025077.3:c.1409G>C, NM_001025077.2:c.1409G>C, NM_001326330.2:c.1355G>C, NM_001326330.1:c.1355G>C, NM_001326343.2:c.1502G>C, NM_001326343.1:c.1502G>C, NM_001326329.2:c.1337G>C, NM_001326329.1:c.1337G>C, NM_001326340.2:c.1484G>C, NM_001326340.1:c.1484G>C, NM_001326334.2:c.1355G>C, NM_001326334.1:c.1355G>C, NM_001326342.2:c.1448G>C, NM_001326342.1:c.1448G>C, NM_001326349.2:c.1355G>C, NM_001326349.1:c.1355G>C, NM_001326319.2:c.1409G>C, NM_001326319.1:c.1409G>C, NM_001326336.2:c.1481G>C, NM_001326336.1:c.1481G>C, NM_001326339.2:c.1094G>C, NM_001326339.1:c.1094G>C, NM_001326338.2:c.1076G>C, NM_001326338.1:c.1076G>C, NM_001326321.2:c.1379G>C, NM_001326321.1:c.1379G>C, NM_001326318.2:c.1355G>C, NM_001326318.1:c.1355G>C, NM_001326317.2:c.1337G>C, NM_001326317.1:c.1337G>C, NM_001326333.2:c.743G>C, NM_001326333.1:c.743G>C, NM_001025076.2:c.1355G>C, NM_001326341.2:c.1430G>C, NM_001326341.1:c.1430G>C, NM_001326323.2:c.1397G>C, NM_001326323.1:c.1397G>C, NM_001326328.2:c.1355G>C, NM_001326328.1:c.1355G>C, NM_001326320.2:c.1355G>C, NM_001326320.1:c.1355G>C, NM_001326348.2:c.1337G>C, NM_001326348.1:c.1337G>C, NM_001326325.2:c.1502G>C, NM_001326325.1:c.1502G>C, XM_024447776.2:c.1439G>C, XM_024447776.1:c.1439G>C, NM_001326331.2:c.1427G>C, NM_001326331.1:c.1427G>C, NM_001326327.2:c.1463G>C, NM_001326327.1:c.1463G>C, NM_001326335.2:c.1421G>C, NM_001326335.1:c.1421G>C, NM_001326332.2:c.1409G>C, NM_001326332.1:c.1409G>C, NM_001326326.2:c.1445G>C, NM_001326326.1:c.1445G>C, NM_001326345.2:c.1355G>C, NM_001326345.1:c.1355G>C, NM_001326324.2:c.1355G>C, NM_001326324.1:c.1355G>C, NM_001326346.2:c.725G>C, NM_001326346.1:c.725G>C, NM_001326344.2:c.1337G>C, NM_001326344.1:c.1337G>C, NM_001326337.2:c.1241G>C, NM_001326337.1:c.1241G>C, NM_001394519.1:c.1442G>C, NM_001394513.1:c.1430G>C, NM_001394517.1:c.1337G>C, NM_001394502.1:c.1427G>C, XM_047424503.1:c.1355G>C, XM_047424506.1:c.1277G>C, XM_047424486.1:c.1460G>C, XM_047424489.1:c.1367G>C, NM_001394518.1:c.1442G>C, NM_001083591.1:c.1349G>C, XM_047424492.1:c.1367G>C, XM_047424495.1:c.1367G>C, XM_047424485.1:c.1475G>C, XM_047424494.1:c.1367G>C, XM_047424491.1:c.1367G>C, XM_047424484.1:c.1475G>C, XM_047424482.1:c.1532G>C, XM_047424502.1:c.1355G>C, XM_047424483.1:c.1520G>C, XM_047424493.1:c.1367G>C, XM_047424499.1:c.1367G>C, XM_047424496.1:c.1367G>C, XM_047424490.1:c.1367G>C, XM_047424487.1:c.1457G>C, XM_047424498.1:c.1367G>C, XM_047424501.1:c.1355G>C, XM_047424505.1:c.1337G>C, XM_047424507.1:c.1262G>C, XM_047424504.1:c.1349G>C, XM_047424500.1:c.1367G>C, XM_047424509.1:c.1106G>C, XM_047424488.1:c.1169G>C, XM_047424510.1:c.755G>C, NM_001326347.1:c.1373G>C, NP_006552.3:p.Ser483Thr, NP_001020248.1:p.Ser470Thr, NP_001313259.1:p.Ser452Thr, NP_001313272.1:p.Ser501Thr, NP_001313258.1:p.Ser446Thr, NP_001313269.1:p.Ser495Thr, NP_001313263.1:p.Ser452Thr, NP_001313271.1:p.Ser483Thr, NP_001313278.1:p.Ser452Thr, NP_001313248.1:p.Ser470Thr, NP_001313265.1:p.Ser494Thr, NP_001313268.1:p.Ser365Thr, NP_001313267.1:p.Ser359Thr, NP_001313250.1:p.Ser460Thr, NP_001313247.1:p.Ser452Thr, NP_001313246.1:p.Ser446Thr, NP_001313262.1:p.Ser248Thr, NP_001020247.1:p.Ser452Thr, NP_001313270.1:p.Ser477Thr, NP_001313252.1:p.Ser466Thr, NP_001313257.1:p.Ser452Thr, NP_001313249.1:p.Ser452Thr, NP_001313277.1:p.Ser446Thr, NP_001313254.1:p.Ser501Thr, XP_024303544.1:p.Ser480Thr, NP_001313260.1:p.Ser476Thr, NP_001313256.1:p.Ser488Thr, NP_001313264.1:p.Ser474Thr, NP_001313261.1:p.Ser470Thr, NP_001313255.1:p.Ser482Thr, NP_001313274.1:p.Ser452Thr, NP_001313253.1:p.Ser452Thr, NP_001313275.1:p.Ser242Thr, NP_001313273.1:p.Ser446Thr, NP_001313266.1:p.Ser414Thr, NP_001381448.1:p.Ser481Thr, NP_001381442.1:p.Ser477Thr, NP_001381446.1:p.Ser446Thr, NP_001381431.1:p.Ser476Thr, XP_047280459.1:p.Ser452Thr, XP_047280462.1:p.Ser426Thr, XP_047280442.1:p.Ser487Thr, XP_047280445.1:p.Ser456Thr, NP_001381447.1:p.Ser481Thr, NP_001077060.1:p.Ser450Thr, XP_047280448.1:p.Ser456Thr, XP_047280451.1:p.Ser456Thr, XP_047280441.1:p.Ser492Thr, XP_047280450.1:p.Ser456Thr, XP_047280447.1:p.Ser456Thr, XP_047280440.1:p.Ser492Thr, XP_047280438.1:p.Ser511Thr, XP_047280458.1:p.Ser452Thr, XP_047280439.1:p.Ser507Thr, XP_047280449.1:p.Ser456Thr, XP_047280455.1:p.Ser456Thr, XP_047280452.1:p.Ser456Thr, XP_047280446.1:p.Ser456Thr, XP_047280443.1:p.Ser486Thr, XP_047280454.1:p.Ser456Thr, XP_047280457.1:p.Ser452Thr, XP_047280461.1:p.Ser446Thr, XP_047280463.1:p.Ser421Thr, XP_047280460.1:p.Ser450Thr, XP_047280456.1:p.Ser456Thr, XP_047280465.1:p.Ser369Thr, XP_047280444.1:p.Ser390Thr, XP_047280466.1:p.Ser252Thr, NP_001313276.1:p.Ser458Thr

                                16.

                                rs1450066905 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  10:11314223 (GRCh38)
                                  10:11356186 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:11314222:C:G
                                  Gene:
                                  CELF2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000010.11:g.11314223C>G, NC_000010.10:g.11356186C>G, NM_006561.4:c.1061C>G, NM_006561.3:c.1061C>G, NM_001025077.3:c.1040C>G, NM_001025077.2:c.1040C>G, NM_001326330.2:c.968C>G, NM_001326330.1:c.968C>G, NM_001326343.2:c.1061C>G, NM_001326343.1:c.1061C>G, NM_001326329.2:c.968C>G, NM_001326329.1:c.968C>G, NM_001326340.2:c.1061C>G, NM_001326340.1:c.1061C>G, NM_001326334.2:c.968C>G, NM_001326334.1:c.968C>G, NM_001326342.2:c.1061C>G, NM_001326342.1:c.1061C>G, NM_001326349.2:c.968C>G, NM_001326349.1:c.968C>G, NM_001326319.2:c.968C>G, NM_001326319.1:c.968C>G, NM_001326336.2:c.1040C>G, NM_001326336.1:c.1040C>G, NM_001326339.2:c.707C>G, NM_001326339.1:c.707C>G, NM_001326338.2:c.707C>G, NM_001326338.1:c.707C>G, NM_001326321.2:c.968C>G, NM_001326321.1:c.968C>G, NM_001326318.2:c.968C>G, NM_001326318.1:c.968C>G, NM_001326317.2:c.968C>G, NM_001326317.1:c.968C>G, NM_001326333.2:c.356C>G, NM_001326333.1:c.356C>G, NM_001025076.2:c.968C>G, NM_001326341.2:c.1061C>G, NM_001326341.1:c.1061C>G, NM_001326323.2:c.968C>G, NM_001326323.1:c.968C>G, NM_001326328.2:c.968C>G, NM_001326328.1:c.968C>G, NM_001326320.2:c.968C>G, NM_001326320.1:c.968C>G, NM_001326348.2:c.968C>G, NM_001326348.1:c.968C>G, NM_001326325.2:c.1133C>G, NM_001326325.1:c.1133C>G, XM_024447776.2:c.1040C>G, XM_024447776.1:c.1040C>G, NM_001326331.2:c.1040C>G, NM_001326331.1:c.1040C>G, NM_001326327.2:c.1076C>G, NM_001326327.1:c.1076C>G, NM_001326335.2:c.1040C>G, NM_001326335.1:c.1040C>G, NM_001326332.2:c.1040C>G, NM_001326332.1:c.1040C>G, NM_001326326.2:c.1076C>G, NM_001326326.1:c.1076C>G, NM_001326345.2:c.968C>G, NM_001326345.1:c.968C>G, NM_001326324.2:c.968C>G, NM_001326324.1:c.968C>G, NM_001326346.2:c.356C>G, NM_001326346.1:c.356C>G, NM_001326344.2:c.968C>G, NM_001326344.1:c.968C>G, NM_001326337.2:c.1040C>G, NM_001326337.1:c.1040C>G, NM_001394519.1:c.1061C>G, NM_001394513.1:c.1061C>G, NM_001394517.1:c.968C>G, NM_001394502.1:c.1040C>G, XM_047424503.1:c.968C>G, XM_047424506.1:c.1076C>G, XM_047424486.1:c.1061C>G, XM_047424489.1:c.968C>G, NM_001394518.1:c.1061C>G, NM_001083591.1:c.968C>G, XM_047424492.1:c.968C>G, XM_047424495.1:c.968C>G, XM_047424485.1:c.1076C>G, XM_047424494.1:c.968C>G, XM_047424491.1:c.968C>G, XM_047424484.1:c.1076C>G, XM_047424482.1:c.1133C>G, XM_047424502.1:c.968C>G, XM_047424483.1:c.1133C>G, XM_047424493.1:c.968C>G, XM_047424499.1:c.968C>G, XM_047424496.1:c.968C>G, XM_047424490.1:c.968C>G, XM_047424487.1:c.1076C>G, XM_047424498.1:c.968C>G, XM_047424501.1:c.968C>G, XM_047424505.1:c.968C>G, XM_047424507.1:c.1061C>G, XM_047424504.1:c.968C>G, XM_047424500.1:c.968C>G, XM_047424509.1:c.707C>G, XM_047424488.1:c.968C>G, XM_047424510.1:c.356C>G, NM_001326347.1:c.992C>G, XM_047424508.1:c.968C>G, NP_006552.3:p.Ala354Gly, NP_001020248.1:p.Ala347Gly, NP_001313259.1:p.Ala323Gly, NP_001313272.1:p.Ala354Gly, NP_001313258.1:p.Ala323Gly, NP_001313269.1:p.Ala354Gly, NP_001313263.1:p.Ala323Gly, NP_001313271.1:p.Ala354Gly, NP_001313278.1:p.Ala323Gly, NP_001313248.1:p.Ala323Gly, NP_001313265.1:p.Ala347Gly, NP_001313268.1:p.Ala236Gly, NP_001313267.1:p.Ala236Gly, NP_001313250.1:p.Ala323Gly, NP_001313247.1:p.Ala323Gly, NP_001313246.1:p.Ala323Gly, NP_001313262.1:p.Ala119Gly, NP_001020247.1:p.Ala323Gly, NP_001313270.1:p.Ala354Gly, NP_001313252.1:p.Ala323Gly, NP_001313257.1:p.Ala323Gly, NP_001313249.1:p.Ala323Gly, NP_001313277.1:p.Ala323Gly, NP_001313254.1:p.Ala378Gly, XP_024303544.1:p.Ala347Gly, NP_001313260.1:p.Ala347Gly, NP_001313256.1:p.Ala359Gly, NP_001313264.1:p.Ala347Gly, NP_001313261.1:p.Ala347Gly, NP_001313255.1:p.Ala359Gly, NP_001313274.1:p.Ala323Gly, NP_001313253.1:p.Ala323Gly, NP_001313275.1:p.Ala119Gly, NP_001313273.1:p.Ala323Gly, NP_001313266.1:p.Ala347Gly, NP_001381448.1:p.Ala354Gly, NP_001381442.1:p.Ala354Gly, NP_001381446.1:p.Ala323Gly, NP_001381431.1:p.Ala347Gly, XP_047280459.1:p.Ala323Gly, XP_047280462.1:p.Ala359Gly, XP_047280442.1:p.Ala354Gly, XP_047280445.1:p.Ala323Gly, NP_001381447.1:p.Ala354Gly, NP_001077060.1:p.Ala323Gly, XP_047280448.1:p.Ala323Gly, XP_047280451.1:p.Ala323Gly, XP_047280441.1:p.Ala359Gly, XP_047280450.1:p.Ala323Gly, XP_047280447.1:p.Ala323Gly, XP_047280440.1:p.Ala359Gly, XP_047280438.1:p.Ala378Gly, XP_047280458.1:p.Ala323Gly, XP_047280439.1:p.Ala378Gly, XP_047280449.1:p.Ala323Gly, XP_047280455.1:p.Ala323Gly, XP_047280452.1:p.Ala323Gly, XP_047280446.1:p.Ala323Gly, XP_047280443.1:p.Ala359Gly, XP_047280454.1:p.Ala323Gly, XP_047280457.1:p.Ala323Gly, XP_047280461.1:p.Ala323Gly, XP_047280463.1:p.Ala354Gly, XP_047280460.1:p.Ala323Gly, XP_047280456.1:p.Ala323Gly, XP_047280465.1:p.Ala236Gly, XP_047280444.1:p.Ala323Gly, XP_047280466.1:p.Ala119Gly, NP_001313276.1:p.Ala331Gly, XP_047280464.1:p.Ala323Gly

                                  17.

                                  rs1449086331 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:11257848 (GRCh38)
                                    10:11299811 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:11257847:C:T
                                    Gene:
                                    CELF2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.11257848C>T, NC_000010.10:g.11299811C>T, NM_006561.4:c.514C>T, NM_006561.3:c.514C>T, NM_001025077.3:c.493C>T, NM_001025077.2:c.493C>T, NM_001326330.2:c.421C>T, NM_001326330.1:c.421C>T, NM_001326343.2:c.514C>T, NM_001326343.1:c.514C>T, NM_001326329.2:c.421C>T, NM_001326329.1:c.421C>T, NM_001326340.2:c.514C>T, NM_001326340.1:c.514C>T, NM_001326334.2:c.421C>T, NM_001326334.1:c.421C>T, NM_001326342.2:c.514C>T, NM_001326342.1:c.514C>T, NM_001326349.2:c.421C>T, NM_001326349.1:c.421C>T, NM_001326319.2:c.421C>T, NM_001326319.1:c.421C>T, NM_001326336.2:c.493C>T, NM_001326336.1:c.493C>T, NM_001326339.2:c.160C>T, NM_001326339.1:c.160C>T, NM_001326338.2:c.160C>T, NM_001326338.1:c.160C>T, NM_001326321.2:c.421C>T, NM_001326321.1:c.421C>T, NM_001326318.2:c.421C>T, NM_001326318.1:c.421C>T, NM_001326317.2:c.421C>T, NM_001326317.1:c.421C>T, NM_001326333.2:c.-112C>T, NM_001326333.1:c.-112C>T, NM_001025076.2:c.421C>T, NM_001326341.2:c.514C>T, NM_001326341.1:c.514C>T, NM_001326323.2:c.421C>T, NM_001326323.1:c.421C>T, NM_001326328.2:c.421C>T, NM_001326328.1:c.421C>T, NM_001326320.2:c.421C>T, NM_001326320.1:c.421C>T, NM_001326348.2:c.421C>T, NM_001326348.1:c.421C>T, NM_001326325.2:c.586C>T, NM_001326325.1:c.586C>T, XM_024447776.2:c.493C>T, XM_024447776.1:c.493C>T, NM_001326331.2:c.493C>T, NM_001326331.1:c.493C>T, NM_001326327.2:c.529C>T, NM_001326327.1:c.529C>T, NM_001326335.2:c.493C>T, NM_001326335.1:c.493C>T, NM_001326332.2:c.493C>T, NM_001326332.1:c.493C>T, NM_001326326.2:c.529C>T, NM_001326326.1:c.529C>T, NM_001326345.2:c.421C>T, NM_001326345.1:c.421C>T, NM_001326324.2:c.421C>T, NM_001326324.1:c.421C>T, NM_001326346.2:c.-112C>T, NM_001326346.1:c.-112C>T, NM_001326344.2:c.421C>T, NM_001326344.1:c.421C>T, NM_001326337.2:c.493C>T, NM_001326337.1:c.493C>T, NM_001394519.1:c.514C>T, NM_001394513.1:c.514C>T, NM_001394517.1:c.421C>T, NM_001394502.1:c.493C>T, XM_047424503.1:c.421C>T, XM_047424506.1:c.529C>T, XM_047424486.1:c.514C>T, XM_047424489.1:c.421C>T, NM_001394518.1:c.514C>T, NM_001083591.1:c.421C>T, XM_047424492.1:c.421C>T, XM_047424495.1:c.421C>T, XM_047424485.1:c.529C>T, XM_047424494.1:c.421C>T, XM_047424491.1:c.421C>T, XM_047424484.1:c.529C>T, XM_047424482.1:c.586C>T, XM_047424502.1:c.421C>T, XM_047424483.1:c.586C>T, XM_047424493.1:c.421C>T, XM_047424499.1:c.421C>T, XM_047424496.1:c.421C>T, XM_047424490.1:c.421C>T, XM_047424487.1:c.529C>T, XM_047424498.1:c.421C>T, XM_047424501.1:c.421C>T, XM_047424505.1:c.421C>T, XM_047424507.1:c.514C>T, XM_047424504.1:c.421C>T, XM_047424500.1:c.421C>T, XM_047424509.1:c.160C>T, XM_047424488.1:c.421C>T, XM_047424510.1:c.-112C>T, NM_001326347.1:c.445C>T, XM_047424508.1:c.421C>T, NP_006552.3:p.Arg172Trp, NP_001020248.1:p.Arg165Trp, NP_001313259.1:p.Arg141Trp, NP_001313272.1:p.Arg172Trp, NP_001313258.1:p.Arg141Trp, NP_001313269.1:p.Arg172Trp, NP_001313263.1:p.Arg141Trp, NP_001313271.1:p.Arg172Trp, NP_001313278.1:p.Arg141Trp, NP_001313248.1:p.Arg141Trp, NP_001313265.1:p.Arg165Trp, NP_001313268.1:p.Arg54Trp, NP_001313267.1:p.Arg54Trp, NP_001313250.1:p.Arg141Trp, NP_001313247.1:p.Arg141Trp, NP_001313246.1:p.Arg141Trp, NP_001020247.1:p.Arg141Trp, NP_001313270.1:p.Arg172Trp, NP_001313252.1:p.Arg141Trp, NP_001313257.1:p.Arg141Trp, NP_001313249.1:p.Arg141Trp, NP_001313277.1:p.Arg141Trp, NP_001313254.1:p.Arg196Trp, XP_024303544.1:p.Arg165Trp, NP_001313260.1:p.Arg165Trp, NP_001313256.1:p.Arg177Trp, NP_001313264.1:p.Arg165Trp, NP_001313261.1:p.Arg165Trp, NP_001313255.1:p.Arg177Trp, NP_001313274.1:p.Arg141Trp, NP_001313253.1:p.Arg141Trp, NP_001313273.1:p.Arg141Trp, NP_001313266.1:p.Arg165Trp, NP_001381448.1:p.Arg172Trp, NP_001381442.1:p.Arg172Trp, NP_001381446.1:p.Arg141Trp, NP_001381431.1:p.Arg165Trp, XP_047280459.1:p.Arg141Trp, XP_047280462.1:p.Arg177Trp, XP_047280442.1:p.Arg172Trp, XP_047280445.1:p.Arg141Trp, NP_001381447.1:p.Arg172Trp, NP_001077060.1:p.Arg141Trp, XP_047280448.1:p.Arg141Trp, XP_047280451.1:p.Arg141Trp, XP_047280441.1:p.Arg177Trp, XP_047280450.1:p.Arg141Trp, XP_047280447.1:p.Arg141Trp, XP_047280440.1:p.Arg177Trp, XP_047280438.1:p.Arg196Trp, XP_047280458.1:p.Arg141Trp, XP_047280439.1:p.Arg196Trp, XP_047280449.1:p.Arg141Trp, XP_047280455.1:p.Arg141Trp, XP_047280452.1:p.Arg141Trp, XP_047280446.1:p.Arg141Trp, XP_047280443.1:p.Arg177Trp, XP_047280454.1:p.Arg141Trp, XP_047280457.1:p.Arg141Trp, XP_047280461.1:p.Arg141Trp, XP_047280463.1:p.Arg172Trp, XP_047280460.1:p.Arg141Trp, XP_047280456.1:p.Arg141Trp, XP_047280465.1:p.Arg54Trp, XP_047280444.1:p.Arg141Trp, NP_001313276.1:p.Arg149Trp, XP_047280464.1:p.Arg141Trp

                                    18.

                                    rs1442364182 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:11329052 (GRCh38)
                                      10:11371015 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:11329051:G:A
                                      Gene:
                                      CELF2 (Varview), CELF2-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,terminator_codon_variant,intron_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.11329052G>A, NC_000010.10:g.11371015G>A, NM_006561.4:c.1565G>A, NM_006561.3:c.1565G>A, NM_001025077.3:c.1526G>A, NM_001025077.2:c.1526G>A, NM_001326330.2:c.1472G>A, NM_001326330.1:c.1472G>A, NM_001326343.2:c.1619G>A, NM_001326343.1:c.1619G>A, NM_001326329.2:c.1454G>A, NM_001326329.1:c.1454G>A, NM_001326340.2:c.1601G>A, NM_001326340.1:c.1601G>A, NM_001326334.2:c.1472G>A, NM_001326334.1:c.1472G>A, NM_001326342.2:c.1565G>A, NM_001326342.1:c.1565G>A, NM_001326349.2:c.1472G>A, NM_001326349.1:c.1472G>A, NM_001326319.2:c.1526G>A, NM_001326319.1:c.1526G>A, NM_001326336.2:c.1598G>A, NM_001326336.1:c.1598G>A, NM_001326339.2:c.1211G>A, NM_001326339.1:c.1211G>A, NM_001326338.2:c.1193G>A, NM_001326338.1:c.1193G>A, NM_001326321.2:c.1496G>A, NM_001326321.1:c.1496G>A, NM_001326318.2:c.1472G>A, NM_001326318.1:c.1472G>A, NM_001326317.2:c.1454G>A, NM_001326317.1:c.1454G>A, NM_001326333.2:c.860G>A, NM_001326333.1:c.860G>A, NM_001025076.2:c.1472G>A, NM_001326341.2:c.1547G>A, NM_001326341.1:c.1547G>A, NM_001326323.2:c.1514G>A, NM_001326323.1:c.1514G>A, NM_001326328.2:c.1472G>A, NM_001326328.1:c.1472G>A, NM_001326320.2:c.1472G>A, NM_001326320.1:c.1472G>A, NM_001326348.2:c.1454G>A, NM_001326348.1:c.1454G>A, NM_001326325.2:c.1619G>A, NM_001326325.1:c.1619G>A, XM_024447776.2:c.1556G>A, XM_024447776.1:c.1556G>A, NM_001326331.2:c.1544G>A, NM_001326331.1:c.1544G>A, NM_001326327.2:c.1580G>A, NM_001326327.1:c.1580G>A, NM_001326335.2:c.1538G>A, NM_001326335.1:c.1538G>A, NM_001326332.2:c.1526G>A, NM_001326332.1:c.1526G>A, NM_001326326.2:c.1562G>A, NM_001326326.1:c.1562G>A, NM_001326345.2:c.1472G>A, NM_001326345.1:c.1472G>A, NM_001326324.2:c.1472G>A, NM_001326324.1:c.1472G>A, NM_001326346.2:c.842G>A, NM_001326346.1:c.842G>A, NM_001326344.2:c.1454G>A, NM_001326344.1:c.1454G>A, NM_001326337.2:c.1358G>A, NM_001326337.1:c.1358G>A, NM_001394519.1:c.1559G>A, NM_001394513.1:c.1547G>A, NM_001394517.1:c.1454G>A, NM_001394502.1:c.1544G>A, XM_047424503.1:c.1472G>A, XM_047424506.1:c.1394G>A, XM_047424486.1:c.1577G>A, XM_047424489.1:c.1484G>A, NM_001394518.1:c.1559G>A, NM_001083591.1:c.1466G>A, XM_047424492.1:c.1484G>A, XM_047424495.1:c.1484G>A, XM_047424485.1:c.1592G>A, XM_047424494.1:c.1484G>A, XM_047424491.1:c.1484G>A, XM_047424484.1:c.1592G>A, XM_047424482.1:c.1649G>A, XM_047424502.1:c.1472G>A, XM_047424483.1:c.1637G>A, XM_047424493.1:c.1484G>A, XM_047424499.1:c.1484G>A, XM_047424496.1:c.1484G>A, XM_047424490.1:c.1484G>A, XM_047424487.1:c.1574G>A, XM_047424498.1:c.1484G>A, XM_047424501.1:c.1472G>A, XM_047424505.1:c.1454G>A, XM_047424507.1:c.1379G>A, XM_047424504.1:c.1466G>A, XM_047424500.1:c.1484G>A, XM_047424509.1:c.1223G>A, XM_047424488.1:c.1286G>A, XM_047424510.1:c.872G>A, NM_001326347.1:c.1490G>A

                                      19.

                                      rs1436335969 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:11329038 (GRCh38)
                                        10:11371001 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:11329037:C:T
                                        Gene:
                                        CELF2 (Varview), CELF2-AS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.11329038C>T, NC_000010.10:g.11371001C>T, NM_006561.4:c.1551C>T, NM_006561.3:c.1551C>T, NM_001025077.3:c.1512C>T, NM_001025077.2:c.1512C>T, NM_001326330.2:c.1458C>T, NM_001326330.1:c.1458C>T, NM_001326343.2:c.1605C>T, NM_001326343.1:c.1605C>T, NM_001326329.2:c.1440C>T, NM_001326329.1:c.1440C>T, NM_001326340.2:c.1587C>T, NM_001326340.1:c.1587C>T, NM_001326334.2:c.1458C>T, NM_001326334.1:c.1458C>T, NM_001326342.2:c.1551C>T, NM_001326342.1:c.1551C>T, NM_001326349.2:c.1458C>T, NM_001326349.1:c.1458C>T, NM_001326319.2:c.1512C>T, NM_001326319.1:c.1512C>T, NM_001326336.2:c.1584C>T, NM_001326336.1:c.1584C>T, NM_001326339.2:c.1197C>T, NM_001326339.1:c.1197C>T, NM_001326338.2:c.1179C>T, NM_001326338.1:c.1179C>T, NM_001326321.2:c.1482C>T, NM_001326321.1:c.1482C>T, NM_001326318.2:c.1458C>T, NM_001326318.1:c.1458C>T, NM_001326317.2:c.1440C>T, NM_001326317.1:c.1440C>T, NM_001326333.2:c.846C>T, NM_001326333.1:c.846C>T, NM_001025076.2:c.1458C>T, NM_001326341.2:c.1533C>T, NM_001326341.1:c.1533C>T, NM_001326323.2:c.1500C>T, NM_001326323.1:c.1500C>T, NM_001326328.2:c.1458C>T, NM_001326328.1:c.1458C>T, NM_001326320.2:c.1458C>T, NM_001326320.1:c.1458C>T, NM_001326348.2:c.1440C>T, NM_001326348.1:c.1440C>T, NM_001326325.2:c.1605C>T, NM_001326325.1:c.1605C>T, XM_024447776.2:c.1542C>T, XM_024447776.1:c.1542C>T, NM_001326331.2:c.1530C>T, NM_001326331.1:c.1530C>T, NM_001326327.2:c.1566C>T, NM_001326327.1:c.1566C>T, NM_001326335.2:c.1524C>T, NM_001326335.1:c.1524C>T, NM_001326332.2:c.1512C>T, NM_001326332.1:c.1512C>T, NM_001326326.2:c.1548C>T, NM_001326326.1:c.1548C>T, NM_001326345.2:c.1458C>T, NM_001326345.1:c.1458C>T, NM_001326324.2:c.1458C>T, NM_001326324.1:c.1458C>T, NM_001326346.2:c.828C>T, NM_001326346.1:c.828C>T, NM_001326344.2:c.1440C>T, NM_001326344.1:c.1440C>T, NM_001326337.2:c.1344C>T, NM_001326337.1:c.1344C>T, NM_001394519.1:c.1545C>T, NM_001394513.1:c.1533C>T, NM_001394517.1:c.1440C>T, NM_001394502.1:c.1530C>T, XM_047424503.1:c.1458C>T, XM_047424506.1:c.1380C>T, XM_047424486.1:c.1563C>T, XM_047424489.1:c.1470C>T, NM_001394518.1:c.1545C>T, NM_001083591.1:c.1452C>T, XM_047424492.1:c.1470C>T, XM_047424495.1:c.1470C>T, XM_047424485.1:c.1578C>T, XM_047424494.1:c.1470C>T, XM_047424491.1:c.1470C>T, XM_047424484.1:c.1578C>T, XM_047424482.1:c.1635C>T, XM_047424502.1:c.1458C>T, XM_047424483.1:c.1623C>T, XM_047424493.1:c.1470C>T, XM_047424499.1:c.1470C>T, XM_047424496.1:c.1470C>T, XM_047424490.1:c.1470C>T, XM_047424487.1:c.1560C>T, XM_047424498.1:c.1470C>T, XM_047424501.1:c.1458C>T, XM_047424505.1:c.1440C>T, XM_047424507.1:c.1365C>T, XM_047424504.1:c.1452C>T, XM_047424500.1:c.1470C>T, XM_047424509.1:c.1209C>T, XM_047424488.1:c.1272C>T, XM_047424510.1:c.858C>T, NM_001326347.1:c.1476C>T

                                        20.

                                        rs1429861764 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          10:11325944 (GRCh38)
                                          10:11367907 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:11325943:T:G
                                          Gene:
                                          CELF2 (Varview), CELF2-AS1 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000010.11:g.11325944T>G, NC_000010.10:g.11367907T>G, NM_006561.4:c.1403T>G, NM_006561.3:c.1403T>G, NM_001025077.3:c.1364T>G, NM_001025077.2:c.1364T>G, NM_001326330.2:c.1310T>G, NM_001326330.1:c.1310T>G, NM_001326343.2:c.1457T>G, NM_001326343.1:c.1457T>G, NM_001326329.2:c.1292T>G, NM_001326329.1:c.1292T>G, NM_001326340.2:c.1439T>G, NM_001326340.1:c.1439T>G, NM_001326334.2:c.1310T>G, NM_001326334.1:c.1310T>G, NM_001326342.2:c.1403T>G, NM_001326342.1:c.1403T>G, NM_001326349.2:c.1310T>G, NM_001326349.1:c.1310T>G, NM_001326319.2:c.1364T>G, NM_001326319.1:c.1364T>G, NM_001326336.2:c.1436T>G, NM_001326336.1:c.1436T>G, NM_001326339.2:c.1049T>G, NM_001326339.1:c.1049T>G, NM_001326338.2:c.1031T>G, NM_001326338.1:c.1031T>G, NM_001326321.2:c.1334T>G, NM_001326321.1:c.1334T>G, NM_001326318.2:c.1310T>G, NM_001326318.1:c.1310T>G, NM_001326317.2:c.1292T>G, NM_001326317.1:c.1292T>G, NM_001326333.2:c.698T>G, NM_001326333.1:c.698T>G, NM_001025076.2:c.1310T>G, NM_001326341.2:c.1385T>G, NM_001326341.1:c.1385T>G, NM_001326323.2:c.1352T>G, NM_001326323.1:c.1352T>G, NM_001326328.2:c.1310T>G, NM_001326328.1:c.1310T>G, NM_001326320.2:c.1310T>G, NM_001326320.1:c.1310T>G, NM_001326348.2:c.1292T>G, NM_001326348.1:c.1292T>G, NM_001326325.2:c.1457T>G, NM_001326325.1:c.1457T>G, XM_024447776.2:c.1394T>G, XM_024447776.1:c.1394T>G, NM_001326331.2:c.1382T>G, NM_001326331.1:c.1382T>G, NM_001326327.2:c.1418T>G, NM_001326327.1:c.1418T>G, NM_001326335.2:c.1376T>G, NM_001326335.1:c.1376T>G, NM_001326332.2:c.1364T>G, NM_001326332.1:c.1364T>G, NM_001326326.2:c.1400T>G, NM_001326326.1:c.1400T>G, NM_001326345.2:c.1310T>G, NM_001326345.1:c.1310T>G, NM_001326324.2:c.1310T>G, NM_001326324.1:c.1310T>G, NM_001326346.2:c.680T>G, NM_001326346.1:c.680T>G, NM_001326344.2:c.1292T>G, NM_001326344.1:c.1292T>G, NM_001326337.2:c.1196T>G, NM_001326337.1:c.1196T>G, NM_001394519.1:c.1397T>G, NM_001394513.1:c.1385T>G, NM_001394517.1:c.1292T>G, NM_001394502.1:c.1382T>G, XM_047424503.1:c.1310T>G, XM_047424506.1:c.1232T>G, XM_047424486.1:c.1415T>G, XM_047424489.1:c.1322T>G, NM_001394518.1:c.1397T>G, NM_001083591.1:c.1304T>G, XM_047424492.1:c.1322T>G, XM_047424495.1:c.1322T>G, XM_047424485.1:c.1430T>G, XM_047424494.1:c.1322T>G, XM_047424491.1:c.1322T>G, XM_047424484.1:c.1430T>G, XM_047424482.1:c.1487T>G, XM_047424502.1:c.1310T>G, XM_047424483.1:c.1475T>G, XM_047424493.1:c.1322T>G, XM_047424499.1:c.1322T>G, XM_047424496.1:c.1322T>G, XM_047424490.1:c.1322T>G, XM_047424487.1:c.1412T>G, XM_047424498.1:c.1322T>G, XM_047424501.1:c.1310T>G, XM_047424505.1:c.1292T>G, XM_047424507.1:c.1217T>G, XM_047424504.1:c.1304T>G, XM_047424500.1:c.1322T>G, XM_047424509.1:c.1061T>G, XM_047424488.1:c.1124T>G, XM_047424510.1:c.710T>G, NM_001326347.1:c.1328T>G, NP_006552.3:p.Phe468Cys, NP_001020248.1:p.Phe455Cys, NP_001313259.1:p.Phe437Cys, NP_001313272.1:p.Phe486Cys, NP_001313258.1:p.Phe431Cys, NP_001313269.1:p.Phe480Cys, NP_001313263.1:p.Phe437Cys, NP_001313271.1:p.Phe468Cys, NP_001313278.1:p.Phe437Cys, NP_001313248.1:p.Phe455Cys, NP_001313265.1:p.Phe479Cys, NP_001313268.1:p.Phe350Cys, NP_001313267.1:p.Phe344Cys, NP_001313250.1:p.Phe445Cys, NP_001313247.1:p.Phe437Cys, NP_001313246.1:p.Phe431Cys, NP_001313262.1:p.Phe233Cys, NP_001020247.1:p.Phe437Cys, NP_001313270.1:p.Phe462Cys, NP_001313252.1:p.Phe451Cys, NP_001313257.1:p.Phe437Cys, NP_001313249.1:p.Phe437Cys, NP_001313277.1:p.Phe431Cys, NP_001313254.1:p.Phe486Cys, XP_024303544.1:p.Phe465Cys, NP_001313260.1:p.Phe461Cys, NP_001313256.1:p.Phe473Cys, NP_001313264.1:p.Phe459Cys, NP_001313261.1:p.Phe455Cys, NP_001313255.1:p.Phe467Cys, NP_001313274.1:p.Phe437Cys, NP_001313253.1:p.Phe437Cys, NP_001313275.1:p.Phe227Cys, NP_001313273.1:p.Phe431Cys, NP_001313266.1:p.Phe399Cys, NP_001381448.1:p.Phe466Cys, NP_001381442.1:p.Phe462Cys, NP_001381446.1:p.Phe431Cys, NP_001381431.1:p.Phe461Cys, XP_047280459.1:p.Phe437Cys, XP_047280462.1:p.Phe411Cys, XP_047280442.1:p.Phe472Cys, XP_047280445.1:p.Phe441Cys, NP_001381447.1:p.Phe466Cys, NP_001077060.1:p.Phe435Cys, XP_047280448.1:p.Phe441Cys, XP_047280451.1:p.Phe441Cys, XP_047280441.1:p.Phe477Cys, XP_047280450.1:p.Phe441Cys, XP_047280447.1:p.Phe441Cys, XP_047280440.1:p.Phe477Cys, XP_047280438.1:p.Phe496Cys, XP_047280458.1:p.Phe437Cys, XP_047280439.1:p.Phe492Cys, XP_047280449.1:p.Phe441Cys, XP_047280455.1:p.Phe441Cys, XP_047280452.1:p.Phe441Cys, XP_047280446.1:p.Phe441Cys, XP_047280443.1:p.Phe471Cys, XP_047280454.1:p.Phe441Cys, XP_047280457.1:p.Phe437Cys, XP_047280461.1:p.Phe431Cys, XP_047280463.1:p.Phe406Cys, XP_047280460.1:p.Phe435Cys, XP_047280456.1:p.Phe441Cys, XP_047280465.1:p.Phe354Cys, XP_047280444.1:p.Phe375Cys, XP_047280466.1:p.Phe237Cys, NP_001313276.1:p.Phe443Cys

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