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Items: 1 to 20 of 599

1.

rs1486387021 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    19:41274012 (GRCh38)
    19:41779917 (GRCh37)
    Canonical SPDI:
    NC_000019.10:41274011:G:C
    Gene:
    HNRNPUL1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.41274012G>C, NC_000019.9:g.41779917G>C, NM_007040.6:c.603G>C, NM_007040.5:c.603G>C, NM_007040.4:c.603G>C, NM_007040.3:c.603G>C, XM_005258461.6:c.336G>C, XM_005258461.5:c.336G>C, XM_005258461.4:c.336G>C, XM_005258461.3:c.336G>C, XM_005258461.2:c.336G>C, XM_005258461.1:c.336G>C, XM_005258465.6:c.303G>C, XM_005258465.5:c.303G>C, XM_005258465.4:c.303G>C, XM_005258465.3:c.303G>C, XM_005258465.2:c.303G>C, XM_005258465.1:c.303G>C, XM_005258459.5:c.603G>C, XM_005258459.4:c.603G>C, XM_005258459.3:c.603G>C, XM_005258459.2:c.603G>C, XM_005258459.1:c.603G>C, XM_005258463.5:c.303G>C, XM_005258463.4:c.303G>C, XM_005258463.3:c.303G>C, XM_005258463.2:c.303G>C, XM_005258463.1:c.303G>C, XM_005258464.5:c.303G>C, XM_005258464.4:c.303G>C, XM_005258464.3:c.303G>C, XM_005258464.2:c.303G>C, XM_005258464.1:c.303G>C, NM_144732.5:c.303G>C, NM_144732.4:c.303G>C, NM_144732.3:c.303G>C, NM_144732.2:c.303G>C, XM_011526392.4:c.603G>C, XM_011526392.3:c.603G>C, XM_011526392.2:c.603G>C, XM_011526392.1:c.603G>C, XM_011526395.4:c.303G>C, XM_011526395.3:c.303G>C, XM_011526395.2:c.303G>C, XM_011526395.1:c.303G>C, XM_011526394.4:c.303G>C, XM_011526394.3:c.303G>C, XM_011526394.2:c.303G>C, XM_011526394.1:c.303G>C, XM_011526393.4:c.303G>C, XM_011526393.3:c.303G>C, XM_011526393.2:c.303G>C, XM_011526393.1:c.303G>C, NM_001301016.3:c.336G>C, NM_001301016.2:c.336G>C, NM_001301016.1:c.336G>C, NM_001321208.2:c.303G>C, NM_001321208.1:c.303G>C, NM_001321211.2:c.303G>C, NM_001321211.1:c.303G>C, NM_144733.1:c.603G>C, XM_047438114.1:c.336G>C, XM_047438113.1:c.303G>C, XM_047438115.1:c.303G>C, NP_008971.2:p.Glu201Asp, XP_005258518.1:p.Glu112Asp, XP_005258522.1:p.Glu101Asp, XP_005258516.1:p.Glu201Asp, XP_005258520.1:p.Glu101Asp, XP_005258521.1:p.Glu101Asp, NP_653333.1:p.Glu101Asp, XP_011524694.1:p.Glu201Asp, XP_011524697.1:p.Glu101Asp, XP_011524696.1:p.Glu101Asp, XP_011524695.1:p.Glu101Asp, NP_001287945.1:p.Glu112Asp, NP_001308137.1:p.Glu101Asp, NP_001308140.1:p.Glu101Asp, XP_047294070.1:p.Glu112Asp, XP_047294069.1:p.Glu101Asp, XP_047294071.1:p.Glu101Asp

    2.

    rs1486335566 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      19:41292294 (GRCh38)
      19:41798199 (GRCh37)
      Canonical SPDI:
      NC_000019.10:41292293:A:G
      Gene:
      HNRNPUL1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.41292294A>G, NC_000019.9:g.41798199A>G, NM_007040.6:c.1049A>G, NM_007040.5:c.1049A>G, NM_007040.4:c.1049A>G, NM_007040.3:c.1049A>G, XM_005258461.6:c.782A>G, XM_005258461.5:c.782A>G, XM_005258461.4:c.782A>G, XM_005258461.3:c.782A>G, XM_005258461.2:c.782A>G, XM_005258461.1:c.782A>G, XM_005258465.6:c.749A>G, XM_005258465.5:c.749A>G, XM_005258465.4:c.749A>G, XM_005258465.3:c.749A>G, XM_005258465.2:c.749A>G, XM_005258465.1:c.749A>G, XM_005258459.5:c.1049A>G, XM_005258459.4:c.1049A>G, XM_005258459.3:c.1049A>G, XM_005258459.2:c.1049A>G, XM_005258459.1:c.1049A>G, XM_005258463.5:c.749A>G, XM_005258463.4:c.749A>G, XM_005258463.3:c.749A>G, XM_005258463.2:c.749A>G, XM_005258463.1:c.749A>G, XM_005258464.5:c.749A>G, XM_005258464.4:c.749A>G, XM_005258464.3:c.749A>G, XM_005258464.2:c.749A>G, XM_005258464.1:c.749A>G, NM_144732.5:c.749A>G, NM_144732.4:c.749A>G, NM_144732.3:c.749A>G, NM_144732.2:c.749A>G, XM_011526392.4:c.1049A>G, XM_011526392.3:c.1049A>G, XM_011526392.2:c.1049A>G, XM_011526392.1:c.1049A>G, XM_011526395.4:c.749A>G, XM_011526395.3:c.749A>G, XM_011526395.2:c.749A>G, XM_011526395.1:c.749A>G, XM_011526394.4:c.749A>G, XM_011526394.3:c.749A>G, XM_011526394.2:c.749A>G, XM_011526394.1:c.749A>G, XM_011526393.4:c.749A>G, XM_011526393.3:c.749A>G, XM_011526393.2:c.749A>G, XM_011526393.1:c.749A>G, NM_001301016.3:c.782A>G, NM_001301016.2:c.782A>G, NM_001301016.1:c.782A>G, NM_001321208.2:c.749A>G, NM_001321208.1:c.749A>G, NM_001321211.2:c.749A>G, NM_001321211.1:c.749A>G, NM_144733.1:c.1049A>G, XM_047438114.1:c.782A>G, XM_047438113.1:c.749A>G, XM_047438115.1:c.749A>G, NP_008971.2:p.Lys350Arg, XP_005258518.1:p.Lys261Arg, XP_005258522.1:p.Lys250Arg, XP_005258516.1:p.Lys350Arg, XP_005258520.1:p.Lys250Arg, XP_005258521.1:p.Lys250Arg, NP_653333.1:p.Lys250Arg, XP_011524694.1:p.Lys350Arg, XP_011524697.1:p.Lys250Arg, XP_011524696.1:p.Lys250Arg, XP_011524695.1:p.Lys250Arg, NP_001287945.1:p.Lys261Arg, NP_001308137.1:p.Lys250Arg, NP_001308140.1:p.Lys250Arg, XP_047294070.1:p.Lys261Arg, XP_047294069.1:p.Lys250Arg, XP_047294071.1:p.Lys250Arg

      3.

      rs1486058555 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        19:41279091 (GRCh38)
        19:41784996 (GRCh37)
        Canonical SPDI:
        NC_000019.10:41279090:C:A
        Gene:
        HNRNPUL1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.41279091C>A, NC_000019.9:g.41784996C>A, NM_007040.6:c.801C>A, NM_007040.5:c.801C>A, NM_007040.4:c.801C>A, NM_007040.3:c.801C>A, XM_005258461.6:c.534C>A, XM_005258461.5:c.534C>A, XM_005258461.4:c.534C>A, XM_005258461.3:c.534C>A, XM_005258461.2:c.534C>A, XM_005258461.1:c.534C>A, XM_005258465.6:c.501C>A, XM_005258465.5:c.501C>A, XM_005258465.4:c.501C>A, XM_005258465.3:c.501C>A, XM_005258465.2:c.501C>A, XM_005258465.1:c.501C>A, XM_005258459.5:c.801C>A, XM_005258459.4:c.801C>A, XM_005258459.3:c.801C>A, XM_005258459.2:c.801C>A, XM_005258459.1:c.801C>A, XM_005258463.5:c.501C>A, XM_005258463.4:c.501C>A, XM_005258463.3:c.501C>A, XM_005258463.2:c.501C>A, XM_005258463.1:c.501C>A, XM_005258464.5:c.501C>A, XM_005258464.4:c.501C>A, XM_005258464.3:c.501C>A, XM_005258464.2:c.501C>A, XM_005258464.1:c.501C>A, NM_144732.5:c.501C>A, NM_144732.4:c.501C>A, NM_144732.3:c.501C>A, NM_144732.2:c.501C>A, XM_011526392.4:c.801C>A, XM_011526392.3:c.801C>A, XM_011526392.2:c.801C>A, XM_011526392.1:c.801C>A, XM_011526395.4:c.501C>A, XM_011526395.3:c.501C>A, XM_011526395.2:c.501C>A, XM_011526395.1:c.501C>A, XM_011526394.4:c.501C>A, XM_011526394.3:c.501C>A, XM_011526394.2:c.501C>A, XM_011526394.1:c.501C>A, XM_011526393.4:c.501C>A, XM_011526393.3:c.501C>A, XM_011526393.2:c.501C>A, XM_011526393.1:c.501C>A, NM_001301016.3:c.534C>A, NM_001301016.2:c.534C>A, NM_001301016.1:c.534C>A, NM_001321208.2:c.501C>A, NM_001321208.1:c.501C>A, NM_001321211.2:c.501C>A, NM_001321211.1:c.501C>A, NM_144733.1:c.801C>A, XM_047438114.1:c.534C>A, XM_047438113.1:c.501C>A, XM_047438115.1:c.501C>A

        4.

        rs1483050731 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:41272217 (GRCh38)
          19:41778122 (GRCh37)
          Canonical SPDI:
          NC_000019.10:41272216:A:G
          Gene:
          HNRNPUL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000019.10:g.41272217A>G, NC_000019.9:g.41778122A>G, NM_007040.6:c.554A>G, NM_007040.5:c.554A>G, NM_007040.4:c.554A>G, NM_007040.3:c.554A>G, XM_005258461.6:c.287A>G, XM_005258461.5:c.287A>G, XM_005258461.4:c.287A>G, XM_005258461.3:c.287A>G, XM_005258461.2:c.287A>G, XM_005258461.1:c.287A>G, XM_005258465.6:c.254A>G, XM_005258465.5:c.254A>G, XM_005258465.4:c.254A>G, XM_005258465.3:c.254A>G, XM_005258465.2:c.254A>G, XM_005258465.1:c.254A>G, XM_005258459.5:c.554A>G, XM_005258459.4:c.554A>G, XM_005258459.3:c.554A>G, XM_005258459.2:c.554A>G, XM_005258459.1:c.554A>G, XM_005258463.5:c.254A>G, XM_005258463.4:c.254A>G, XM_005258463.3:c.254A>G, XM_005258463.2:c.254A>G, XM_005258463.1:c.254A>G, XM_005258464.5:c.254A>G, XM_005258464.4:c.254A>G, XM_005258464.3:c.254A>G, XM_005258464.2:c.254A>G, XM_005258464.1:c.254A>G, NM_144732.5:c.254A>G, NM_144732.4:c.254A>G, NM_144732.3:c.254A>G, NM_144732.2:c.254A>G, XM_011526392.4:c.554A>G, XM_011526392.3:c.554A>G, XM_011526392.2:c.554A>G, XM_011526392.1:c.554A>G, XM_011526395.4:c.254A>G, XM_011526395.3:c.254A>G, XM_011526395.2:c.254A>G, XM_011526395.1:c.254A>G, XM_011526394.4:c.254A>G, XM_011526394.3:c.254A>G, XM_011526394.2:c.254A>G, XM_011526394.1:c.254A>G, XM_011526393.4:c.254A>G, XM_011526393.3:c.254A>G, XM_011526393.2:c.254A>G, XM_011526393.1:c.254A>G, NM_001301016.3:c.287A>G, NM_001301016.2:c.287A>G, NM_001301016.1:c.287A>G, NM_001321208.2:c.254A>G, NM_001321208.1:c.254A>G, NM_001321211.2:c.254A>G, NM_001321211.1:c.254A>G, NM_144733.1:c.554A>G, XM_047438114.1:c.287A>G, XM_047438113.1:c.254A>G, XM_047438115.1:c.254A>G, NP_008971.2:p.Glu185Gly, XP_005258518.1:p.Glu96Gly, XP_005258522.1:p.Glu85Gly, XP_005258516.1:p.Glu185Gly, XP_005258520.1:p.Glu85Gly, XP_005258521.1:p.Glu85Gly, NP_653333.1:p.Glu85Gly, XP_011524694.1:p.Glu185Gly, XP_011524697.1:p.Glu85Gly, XP_011524696.1:p.Glu85Gly, XP_011524695.1:p.Glu85Gly, NP_001287945.1:p.Glu96Gly, NP_001308137.1:p.Glu85Gly, NP_001308140.1:p.Glu85Gly, XP_047294070.1:p.Glu96Gly, XP_047294069.1:p.Glu85Gly, XP_047294071.1:p.Glu85Gly

          5.

          rs1480047901 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:41304034 (GRCh38)
            19:41809939 (GRCh37)
            Canonical SPDI:
            NC_000019.10:41304033:A:G
            Gene:
            HNRNPUL1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000019.10:g.41304034A>G, NC_000019.9:g.41809939A>G, NM_007040.6:c.2035A>G, NM_007040.5:c.2035A>G, NM_007040.4:c.2035A>G, NM_007040.3:c.2035A>G, XM_005258461.6:c.1768A>G, XM_005258461.5:c.1768A>G, XM_005258461.4:c.1768A>G, XM_005258461.3:c.1768A>G, XM_005258461.2:c.1768A>G, XM_005258461.1:c.1768A>G, XM_005258465.6:c.1735A>G, XM_005258465.5:c.1735A>G, XM_005258465.4:c.1735A>G, XM_005258465.3:c.1735A>G, XM_005258465.2:c.1735A>G, XM_005258465.1:c.1735A>G, XM_005258459.5:c.2035A>G, XM_005258459.4:c.2035A>G, XM_005258459.3:c.2035A>G, XM_005258459.2:c.2035A>G, XM_005258459.1:c.2035A>G, XM_005258463.5:c.1735A>G, XM_005258463.4:c.1735A>G, XM_005258463.3:c.1735A>G, XM_005258463.2:c.1735A>G, XM_005258463.1:c.1735A>G, XM_005258464.5:c.1735A>G, XM_005258464.4:c.1735A>G, XM_005258464.3:c.1735A>G, XM_005258464.2:c.1735A>G, XM_005258464.1:c.1735A>G, NM_144732.5:c.1735A>G, NM_144732.4:c.1735A>G, NM_144732.3:c.1735A>G, NM_144732.2:c.1735A>G, XM_011526392.4:c.2035A>G, XM_011526392.3:c.2035A>G, XM_011526392.2:c.2035A>G, XM_011526392.1:c.2035A>G, XM_011526395.4:c.1735A>G, XM_011526395.3:c.1735A>G, XM_011526395.2:c.1735A>G, XM_011526395.1:c.1735A>G, XM_011526394.4:c.1735A>G, XM_011526394.3:c.1735A>G, XM_011526394.2:c.1735A>G, XM_011526394.1:c.1735A>G, XM_011526393.4:c.1735A>G, XM_011526393.3:c.1735A>G, XM_011526393.2:c.1735A>G, XM_011526393.1:c.1735A>G, NM_001301016.3:c.1768A>G, NM_001301016.2:c.1768A>G, NM_001301016.1:c.1768A>G, NM_001321208.2:c.1735A>G, NM_001321208.1:c.1735A>G, NM_001321211.2:c.1735A>G, NM_001321211.1:c.1735A>G, NM_144733.1:c.2035A>G, XM_047438114.1:c.1768A>G, XM_047438113.1:c.1735A>G, XM_047438115.1:c.1735A>G, NP_008971.2:p.Asn679Asp, XP_005258518.1:p.Asn590Asp, XP_005258522.1:p.Asn579Asp, XP_005258516.1:p.Asn679Asp, XP_005258520.1:p.Asn579Asp, XP_005258521.1:p.Asn579Asp, NP_653333.1:p.Asn579Asp, XP_011524694.1:p.Asn679Asp, XP_011524697.1:p.Asn579Asp, XP_011524696.1:p.Asn579Asp, XP_011524695.1:p.Asn579Asp, NP_001287945.1:p.Asn590Asp, NP_001308137.1:p.Asn579Asp, NP_001308140.1:p.Asn579Asp, XP_047294070.1:p.Asn590Asp, XP_047294069.1:p.Asn579Asp, XP_047294071.1:p.Asn579Asp

            6.

            rs1478830931 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:41292341 (GRCh38)
              19:41798246 (GRCh37)
              Canonical SPDI:
              NC_000019.10:41292340:C:G
              Gene:
              HNRNPUL1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000019.10:g.41292341C>G, NC_000019.9:g.41798246C>G, NM_007040.6:c.1096C>G, NM_007040.5:c.1096C>G, NM_007040.4:c.1096C>G, NM_007040.3:c.1096C>G, XM_005258461.6:c.829C>G, XM_005258461.5:c.829C>G, XM_005258461.4:c.829C>G, XM_005258461.3:c.829C>G, XM_005258461.2:c.829C>G, XM_005258461.1:c.829C>G, XM_005258465.6:c.796C>G, XM_005258465.5:c.796C>G, XM_005258465.4:c.796C>G, XM_005258465.3:c.796C>G, XM_005258465.2:c.796C>G, XM_005258465.1:c.796C>G, XM_005258459.5:c.1096C>G, XM_005258459.4:c.1096C>G, XM_005258459.3:c.1096C>G, XM_005258459.2:c.1096C>G, XM_005258459.1:c.1096C>G, XM_005258463.5:c.796C>G, XM_005258463.4:c.796C>G, XM_005258463.3:c.796C>G, XM_005258463.2:c.796C>G, XM_005258463.1:c.796C>G, XM_005258464.5:c.796C>G, XM_005258464.4:c.796C>G, XM_005258464.3:c.796C>G, XM_005258464.2:c.796C>G, XM_005258464.1:c.796C>G, NM_144732.5:c.796C>G, NM_144732.4:c.796C>G, NM_144732.3:c.796C>G, NM_144732.2:c.796C>G, XM_011526392.4:c.1096C>G, XM_011526392.3:c.1096C>G, XM_011526392.2:c.1096C>G, XM_011526392.1:c.1096C>G, XM_011526395.4:c.796C>G, XM_011526395.3:c.796C>G, XM_011526395.2:c.796C>G, XM_011526395.1:c.796C>G, XM_011526394.4:c.796C>G, XM_011526394.3:c.796C>G, XM_011526394.2:c.796C>G, XM_011526394.1:c.796C>G, XM_011526393.4:c.796C>G, XM_011526393.3:c.796C>G, XM_011526393.2:c.796C>G, XM_011526393.1:c.796C>G, NM_001301016.3:c.829C>G, NM_001301016.2:c.829C>G, NM_001301016.1:c.829C>G, NM_001321208.2:c.796C>G, NM_001321208.1:c.796C>G, NM_001321211.2:c.796C>G, NM_001321211.1:c.796C>G, NM_144733.1:c.1096C>G, XM_047438114.1:c.829C>G, XM_047438113.1:c.796C>G, XM_047438115.1:c.796C>G, NP_008971.2:p.Gln366Glu, XP_005258518.1:p.Gln277Glu, XP_005258522.1:p.Gln266Glu, XP_005258516.1:p.Gln366Glu, XP_005258520.1:p.Gln266Glu, XP_005258521.1:p.Gln266Glu, NP_653333.1:p.Gln266Glu, XP_011524694.1:p.Gln366Glu, XP_011524697.1:p.Gln266Glu, XP_011524696.1:p.Gln266Glu, XP_011524695.1:p.Gln266Glu, NP_001287945.1:p.Gln277Glu, NP_001308137.1:p.Gln266Glu, NP_001308140.1:p.Gln266Glu, XP_047294070.1:p.Gln277Glu, XP_047294069.1:p.Gln266Glu, XP_047294071.1:p.Gln266Glu

              7.

              rs1478002945 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                19:41304192 (GRCh38)
                19:41810097 (GRCh37)
                Canonical SPDI:
                NC_000019.10:41304191:G:C
                Gene:
                HNRNPUL1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000047/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.41304192G>C, NC_000019.9:g.41810097G>C, NM_007040.6:c.2193G>C, NM_007040.5:c.2193G>C, NM_007040.4:c.2193G>C, NM_007040.3:c.2193G>C, XM_005258461.6:c.1926G>C, XM_005258461.5:c.1926G>C, XM_005258461.4:c.1926G>C, XM_005258461.3:c.1926G>C, XM_005258461.2:c.1926G>C, XM_005258461.1:c.1926G>C, XM_005258465.6:c.1893G>C, XM_005258465.5:c.1893G>C, XM_005258465.4:c.1893G>C, XM_005258465.3:c.1893G>C, XM_005258465.2:c.1893G>C, XM_005258465.1:c.1893G>C, XM_005258459.5:c.2193G>C, XM_005258459.4:c.2193G>C, XM_005258459.3:c.2193G>C, XM_005258459.2:c.2193G>C, XM_005258459.1:c.2193G>C, XM_005258463.5:c.1893G>C, XM_005258463.4:c.1893G>C, XM_005258463.3:c.1893G>C, XM_005258463.2:c.1893G>C, XM_005258463.1:c.1893G>C, XM_005258464.5:c.1893G>C, XM_005258464.4:c.1893G>C, XM_005258464.3:c.1893G>C, XM_005258464.2:c.1893G>C, XM_005258464.1:c.1893G>C, NM_144732.5:c.1893G>C, NM_144732.4:c.1893G>C, NM_144732.3:c.1893G>C, NM_144732.2:c.1893G>C, XM_011526392.4:c.2193G>C, XM_011526392.3:c.2193G>C, XM_011526392.2:c.2193G>C, XM_011526392.1:c.2193G>C, XM_011526395.4:c.1893G>C, XM_011526395.3:c.1893G>C, XM_011526395.2:c.1893G>C, XM_011526395.1:c.1893G>C, XM_011526394.4:c.1893G>C, XM_011526394.3:c.1893G>C, XM_011526394.2:c.1893G>C, XM_011526394.1:c.1893G>C, XM_011526393.4:c.1893G>C, XM_011526393.3:c.1893G>C, XM_011526393.2:c.1893G>C, XM_011526393.1:c.1893G>C, NM_001301016.3:c.1926G>C, NM_001301016.2:c.1926G>C, NM_001301016.1:c.1926G>C, NM_001321208.2:c.1893G>C, NM_001321208.1:c.1893G>C, NM_001321211.2:c.1893G>C, NM_001321211.1:c.1893G>C, NM_144733.1:c.2193G>C, XM_047438114.1:c.1926G>C, XM_047438113.1:c.1893G>C, XM_047438115.1:c.1893G>C, NP_008971.2:p.Lys731Asn, XP_005258518.1:p.Lys642Asn, XP_005258522.1:p.Lys631Asn, XP_005258516.1:p.Lys731Asn, XP_005258520.1:p.Lys631Asn, XP_005258521.1:p.Lys631Asn, NP_653333.1:p.Lys631Asn, XP_011524694.1:p.Lys731Asn, XP_011524697.1:p.Lys631Asn, XP_011524696.1:p.Lys631Asn, XP_011524695.1:p.Lys631Asn, NP_001287945.1:p.Lys642Asn, NP_001308137.1:p.Lys631Asn, NP_001308140.1:p.Lys631Asn, XP_047294070.1:p.Lys642Asn, XP_047294069.1:p.Lys631Asn, XP_047294071.1:p.Lys631Asn

                8.

                rs1475781478 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:41302744 (GRCh38)
                  19:41808649 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:41302743:G:A
                  Gene:
                  HNRNPUL1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.41302744G>A, NC_000019.9:g.41808649G>A, NM_007040.6:c.1767G>A, NM_007040.5:c.1767G>A, NM_007040.4:c.1767G>A, NM_007040.3:c.1767G>A, XM_005258461.6:c.1500G>A, XM_005258461.5:c.1500G>A, XM_005258461.4:c.1500G>A, XM_005258461.3:c.1500G>A, XM_005258461.2:c.1500G>A, XM_005258461.1:c.1500G>A, XM_005258465.6:c.1467G>A, XM_005258465.5:c.1467G>A, XM_005258465.4:c.1467G>A, XM_005258465.3:c.1467G>A, XM_005258465.2:c.1467G>A, XM_005258465.1:c.1467G>A, XM_005258459.5:c.1767G>A, XM_005258459.4:c.1767G>A, XM_005258459.3:c.1767G>A, XM_005258459.2:c.1767G>A, XM_005258459.1:c.1767G>A, XM_005258463.5:c.1467G>A, XM_005258463.4:c.1467G>A, XM_005258463.3:c.1467G>A, XM_005258463.2:c.1467G>A, XM_005258463.1:c.1467G>A, XM_005258464.5:c.1467G>A, XM_005258464.4:c.1467G>A, XM_005258464.3:c.1467G>A, XM_005258464.2:c.1467G>A, XM_005258464.1:c.1467G>A, NM_144732.5:c.1467G>A, NM_144732.4:c.1467G>A, NM_144732.3:c.1467G>A, NM_144732.2:c.1467G>A, XM_011526392.4:c.1767G>A, XM_011526392.3:c.1767G>A, XM_011526392.2:c.1767G>A, XM_011526392.1:c.1767G>A, XM_011526395.4:c.1467G>A, XM_011526395.3:c.1467G>A, XM_011526395.2:c.1467G>A, XM_011526395.1:c.1467G>A, XM_011526394.4:c.1467G>A, XM_011526394.3:c.1467G>A, XM_011526394.2:c.1467G>A, XM_011526394.1:c.1467G>A, XM_011526393.4:c.1467G>A, XM_011526393.3:c.1467G>A, XM_011526393.2:c.1467G>A, XM_011526393.1:c.1467G>A, NM_001301016.3:c.1500G>A, NM_001301016.2:c.1500G>A, NM_001301016.1:c.1500G>A, NM_001321208.2:c.1467G>A, NM_001321208.1:c.1467G>A, NM_001321211.2:c.1467G>A, NM_001321211.1:c.1467G>A, NM_144733.1:c.1767G>A, XM_047438114.1:c.1500G>A, XM_047438113.1:c.1467G>A, XM_047438115.1:c.1467G>A

                  9.

                  rs1475600322 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    19:41272206 (GRCh38)
                    19:41778111 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:41272205:G:C
                    Gene:
                    HNRNPUL1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000019.10:g.41272206G>C, NC_000019.9:g.41778111G>C, NM_007040.6:c.543G>C, NM_007040.5:c.543G>C, NM_007040.4:c.543G>C, NM_007040.3:c.543G>C, XM_005258461.6:c.276G>C, XM_005258461.5:c.276G>C, XM_005258461.4:c.276G>C, XM_005258461.3:c.276G>C, XM_005258461.2:c.276G>C, XM_005258461.1:c.276G>C, XM_005258465.6:c.243G>C, XM_005258465.5:c.243G>C, XM_005258465.4:c.243G>C, XM_005258465.3:c.243G>C, XM_005258465.2:c.243G>C, XM_005258465.1:c.243G>C, XM_005258459.5:c.543G>C, XM_005258459.4:c.543G>C, XM_005258459.3:c.543G>C, XM_005258459.2:c.543G>C, XM_005258459.1:c.543G>C, XM_005258463.5:c.243G>C, XM_005258463.4:c.243G>C, XM_005258463.3:c.243G>C, XM_005258463.2:c.243G>C, XM_005258463.1:c.243G>C, XM_005258464.5:c.243G>C, XM_005258464.4:c.243G>C, XM_005258464.3:c.243G>C, XM_005258464.2:c.243G>C, XM_005258464.1:c.243G>C, NM_144732.5:c.243G>C, NM_144732.4:c.243G>C, NM_144732.3:c.243G>C, NM_144732.2:c.243G>C, XM_011526392.4:c.543G>C, XM_011526392.3:c.543G>C, XM_011526392.2:c.543G>C, XM_011526392.1:c.543G>C, XM_011526395.4:c.243G>C, XM_011526395.3:c.243G>C, XM_011526395.2:c.243G>C, XM_011526395.1:c.243G>C, XM_011526394.4:c.243G>C, XM_011526394.3:c.243G>C, XM_011526394.2:c.243G>C, XM_011526394.1:c.243G>C, XM_011526393.4:c.243G>C, XM_011526393.3:c.243G>C, XM_011526393.2:c.243G>C, XM_011526393.1:c.243G>C, NM_001301016.3:c.276G>C, NM_001301016.2:c.276G>C, NM_001301016.1:c.276G>C, NM_001321208.2:c.243G>C, NM_001321208.1:c.243G>C, NM_001321211.2:c.243G>C, NM_001321211.1:c.243G>C, NM_144733.1:c.543G>C, XM_047438114.1:c.276G>C, XM_047438113.1:c.243G>C, XM_047438115.1:c.243G>C

                    10.

                    rs1471601988 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      19:41268308 (GRCh38)
                      19:41774213 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:41268307:A:T
                      Gene:
                      HNRNPUL1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.41268308A>T, NC_000019.9:g.41774213A>T, NM_007040.6:c.381A>T, NM_007040.5:c.381A>T, NM_007040.4:c.381A>T, NM_007040.3:c.381A>T, XM_005258461.6:c.114A>T, XM_005258461.5:c.114A>T, XM_005258461.4:c.114A>T, XM_005258461.3:c.114A>T, XM_005258461.2:c.114A>T, XM_005258461.1:c.114A>T, XM_005258465.6:c.81A>T, XM_005258465.5:c.81A>T, XM_005258465.4:c.81A>T, XM_005258465.3:c.81A>T, XM_005258465.2:c.81A>T, XM_005258465.1:c.81A>T, XM_005258459.5:c.381A>T, XM_005258459.4:c.381A>T, XM_005258459.3:c.381A>T, XM_005258459.2:c.381A>T, XM_005258459.1:c.381A>T, XM_005258463.5:c.81A>T, XM_005258463.4:c.81A>T, XM_005258463.3:c.81A>T, XM_005258463.2:c.81A>T, XM_005258463.1:c.81A>T, XM_005258464.5:c.81A>T, XM_005258464.4:c.81A>T, XM_005258464.3:c.81A>T, XM_005258464.2:c.81A>T, XM_005258464.1:c.81A>T, NM_144732.5:c.81A>T, NM_144732.4:c.81A>T, NM_144732.3:c.81A>T, NM_144732.2:c.81A>T, XM_011526392.4:c.381A>T, XM_011526392.3:c.381A>T, XM_011526392.2:c.381A>T, XM_011526392.1:c.381A>T, XM_011526395.4:c.81A>T, XM_011526395.3:c.81A>T, XM_011526395.2:c.81A>T, XM_011526395.1:c.81A>T, XM_011526394.4:c.81A>T, XM_011526394.3:c.81A>T, XM_011526394.2:c.81A>T, XM_011526394.1:c.81A>T, XM_011526393.4:c.81A>T, XM_011526393.3:c.81A>T, XM_011526393.2:c.81A>T, XM_011526393.1:c.81A>T, NM_001301016.3:c.114A>T, NM_001301016.2:c.114A>T, NM_001301016.1:c.114A>T, NM_001321208.2:c.81A>T, NM_001321208.1:c.81A>T, NM_001321211.2:c.81A>T, NM_001321211.1:c.81A>T, NM_144733.1:c.381A>T, XM_047438114.1:c.114A>T, XM_047438113.1:c.81A>T, XM_047438115.1:c.81A>T, NP_008971.2:p.Arg127Ser, XP_005258518.1:p.Arg38Ser, XP_005258522.1:p.Arg27Ser, XP_005258516.1:p.Arg127Ser, XP_005258520.1:p.Arg27Ser, XP_005258521.1:p.Arg27Ser, NP_653333.1:p.Arg27Ser, XP_011524694.1:p.Arg127Ser, XP_011524697.1:p.Arg27Ser, XP_011524696.1:p.Arg27Ser, XP_011524695.1:p.Arg27Ser, NP_001287945.1:p.Arg38Ser, NP_001308137.1:p.Arg27Ser, NP_001308140.1:p.Arg27Ser, XP_047294070.1:p.Arg38Ser, XP_047294069.1:p.Arg27Ser, XP_047294071.1:p.Arg27Ser

                      11.

                      rs1470857546 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        19:41305757 (GRCh38)
                        19:41811662 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:41305756:C:G
                        Gene:
                        HNRNPUL1 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.41305757C>G, NC_000019.9:g.41811662C>G, NM_007040.6:c.2344C>G, NM_007040.5:c.2344C>G, NM_007040.4:c.2344C>G, NM_007040.3:c.2344C>G, XM_005258461.6:c.2107C>G, XM_005258461.5:c.2107C>G, XM_005258461.4:c.2107C>G, XM_005258461.3:c.2107C>G, XM_005258461.2:c.2107C>G, XM_005258461.1:c.2107C>G, XM_005258465.6:c.2074C>G, XM_005258465.5:c.2074C>G, XM_005258465.4:c.2074C>G, XM_005258465.3:c.2074C>G, XM_005258465.2:c.2074C>G, XM_005258465.1:c.2074C>G, XM_005258459.5:c.2374C>G, XM_005258459.4:c.2374C>G, XM_005258459.3:c.2374C>G, XM_005258459.2:c.2374C>G, XM_005258459.1:c.2374C>G, XM_005258463.5:c.2074C>G, XM_005258463.4:c.2074C>G, XM_005258463.3:c.2074C>G, XM_005258463.2:c.2074C>G, XM_005258463.1:c.2074C>G, XM_005258464.5:c.2074C>G, XM_005258464.4:c.2074C>G, XM_005258464.3:c.2074C>G, XM_005258464.2:c.2074C>G, XM_005258464.1:c.2074C>G, NM_144732.5:c.2044C>G, NM_144732.4:c.2044C>G, NM_144732.3:c.2044C>G, NM_144732.2:c.2044C>G, XM_011526395.4:c.2074C>G, XM_011526395.3:c.2074C>G, XM_011526395.2:c.2074C>G, XM_011526395.1:c.2074C>G, XM_011526394.4:c.2074C>G, XM_011526394.3:c.2074C>G, XM_011526394.2:c.2074C>G, XM_011526394.1:c.2074C>G, XM_011526393.4:c.2074C>G, XM_011526393.3:c.2074C>G, XM_011526393.2:c.2074C>G, XM_011526393.1:c.2074C>G, NM_001301016.3:c.2077C>G, NM_001301016.2:c.2077C>G, NM_001301016.1:c.2077C>G, NM_001321208.2:c.2044C>G, NM_001321208.1:c.2044C>G, NM_001321211.2:c.2044C>G, NM_001321211.1:c.2044C>G, XM_047438113.1:c.2044C>G, NM_144734.1:c.272C>G, NP_008971.2:p.Pro782Ala, XP_005258518.1:p.Pro703Ala, XP_005258522.1:p.Pro692Ala, XP_005258516.1:p.Pro792Ala, XP_005258520.1:p.Pro692Ala, XP_005258521.1:p.Pro692Ala, NP_653333.1:p.Pro682Ala, XP_011524697.1:p.Pro692Ala, XP_011524696.1:p.Pro692Ala, XP_011524695.1:p.Pro692Ala, NP_001287945.1:p.Pro693Ala, NP_001308137.1:p.Pro682Ala, NP_001308140.1:p.Pro682Ala, XP_047294069.1:p.Pro682Ala

                        12.

                        rs1468507947 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:41279103 (GRCh38)
                          19:41785008 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:41279102:C:T
                          Gene:
                          HNRNPUL1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000057/2 (ALFA)
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.000021/3 (GnomAD)
                          T=0.00003/8 (TOPMED)
                          HGVS:
                          NC_000019.10:g.41279103C>T, NC_000019.9:g.41785008C>T, NM_007040.6:c.813C>T, NM_007040.5:c.813C>T, NM_007040.4:c.813C>T, NM_007040.3:c.813C>T, XM_005258461.6:c.546C>T, XM_005258461.5:c.546C>T, XM_005258461.4:c.546C>T, XM_005258461.3:c.546C>T, XM_005258461.2:c.546C>T, XM_005258461.1:c.546C>T, XM_005258465.6:c.513C>T, XM_005258465.5:c.513C>T, XM_005258465.4:c.513C>T, XM_005258465.3:c.513C>T, XM_005258465.2:c.513C>T, XM_005258465.1:c.513C>T, XM_005258459.5:c.813C>T, XM_005258459.4:c.813C>T, XM_005258459.3:c.813C>T, XM_005258459.2:c.813C>T, XM_005258459.1:c.813C>T, XM_005258463.5:c.513C>T, XM_005258463.4:c.513C>T, XM_005258463.3:c.513C>T, XM_005258463.2:c.513C>T, XM_005258463.1:c.513C>T, XM_005258464.5:c.513C>T, XM_005258464.4:c.513C>T, XM_005258464.3:c.513C>T, XM_005258464.2:c.513C>T, XM_005258464.1:c.513C>T, NM_144732.5:c.513C>T, NM_144732.4:c.513C>T, NM_144732.3:c.513C>T, NM_144732.2:c.513C>T, XM_011526392.4:c.813C>T, XM_011526392.3:c.813C>T, XM_011526392.2:c.813C>T, XM_011526392.1:c.813C>T, XM_011526395.4:c.513C>T, XM_011526395.3:c.513C>T, XM_011526395.2:c.513C>T, XM_011526395.1:c.513C>T, XM_011526394.4:c.513C>T, XM_011526394.3:c.513C>T, XM_011526394.2:c.513C>T, XM_011526394.1:c.513C>T, XM_011526393.4:c.513C>T, XM_011526393.3:c.513C>T, XM_011526393.2:c.513C>T, XM_011526393.1:c.513C>T, NM_001301016.3:c.546C>T, NM_001301016.2:c.546C>T, NM_001301016.1:c.546C>T, NM_001321208.2:c.513C>T, NM_001321208.1:c.513C>T, NM_001321211.2:c.513C>T, NM_001321211.1:c.513C>T, NM_144733.1:c.813C>T, XM_047438114.1:c.546C>T, XM_047438113.1:c.513C>T, XM_047438115.1:c.513C>T

                          13.

                          rs1468409615 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            19:41276248 (GRCh38)
                            19:41782153 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:41276247:G:T
                            Gene:
                            HNRNPUL1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.41276248G>T, NC_000019.9:g.41782153G>T, NM_007040.6:c.736G>T, NM_007040.5:c.736G>T, NM_007040.4:c.736G>T, NM_007040.3:c.736G>T, XM_005258461.6:c.469G>T, XM_005258461.5:c.469G>T, XM_005258461.4:c.469G>T, XM_005258461.3:c.469G>T, XM_005258461.2:c.469G>T, XM_005258461.1:c.469G>T, XM_005258465.6:c.436G>T, XM_005258465.5:c.436G>T, XM_005258465.4:c.436G>T, XM_005258465.3:c.436G>T, XM_005258465.2:c.436G>T, XM_005258465.1:c.436G>T, XM_005258459.5:c.736G>T, XM_005258459.4:c.736G>T, XM_005258459.3:c.736G>T, XM_005258459.2:c.736G>T, XM_005258459.1:c.736G>T, XM_005258463.5:c.436G>T, XM_005258463.4:c.436G>T, XM_005258463.3:c.436G>T, XM_005258463.2:c.436G>T, XM_005258463.1:c.436G>T, XM_005258464.5:c.436G>T, XM_005258464.4:c.436G>T, XM_005258464.3:c.436G>T, XM_005258464.2:c.436G>T, XM_005258464.1:c.436G>T, NM_144732.5:c.436G>T, NM_144732.4:c.436G>T, NM_144732.3:c.436G>T, NM_144732.2:c.436G>T, XM_011526392.4:c.736G>T, XM_011526392.3:c.736G>T, XM_011526392.2:c.736G>T, XM_011526392.1:c.736G>T, XM_011526395.4:c.436G>T, XM_011526395.3:c.436G>T, XM_011526395.2:c.436G>T, XM_011526395.1:c.436G>T, XM_011526394.4:c.436G>T, XM_011526394.3:c.436G>T, XM_011526394.2:c.436G>T, XM_011526394.1:c.436G>T, XM_011526393.4:c.436G>T, XM_011526393.3:c.436G>T, XM_011526393.2:c.436G>T, XM_011526393.1:c.436G>T, NM_001301016.3:c.469G>T, NM_001301016.2:c.469G>T, NM_001301016.1:c.469G>T, NM_001321208.2:c.436G>T, NM_001321208.1:c.436G>T, NM_001321211.2:c.436G>T, NM_001321211.1:c.436G>T, NM_144733.1:c.736G>T, XM_047438114.1:c.469G>T, XM_047438113.1:c.436G>T, XM_047438115.1:c.436G>T, NP_008971.2:p.Ala246Ser, XP_005258518.1:p.Ala157Ser, XP_005258522.1:p.Ala146Ser, XP_005258516.1:p.Ala246Ser, XP_005258520.1:p.Ala146Ser, XP_005258521.1:p.Ala146Ser, NP_653333.1:p.Ala146Ser, XP_011524694.1:p.Ala246Ser, XP_011524697.1:p.Ala146Ser, XP_011524696.1:p.Ala146Ser, XP_011524695.1:p.Ala146Ser, NP_001287945.1:p.Ala157Ser, NP_001308137.1:p.Ala146Ser, NP_001308140.1:p.Ala146Ser, XP_047294070.1:p.Ala157Ser, XP_047294069.1:p.Ala146Ser, XP_047294071.1:p.Ala146Ser

                            14.

                            rs1465829083 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:41304116 (GRCh38)
                              19:41810021 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:41304115:C:T
                              Gene:
                              HNRNPUL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000019.10:g.41304116C>T, NC_000019.9:g.41810021C>T, NM_007040.6:c.2117C>T, NM_007040.5:c.2117C>T, NM_007040.4:c.2117C>T, NM_007040.3:c.2117C>T, XM_005258461.6:c.1850C>T, XM_005258461.5:c.1850C>T, XM_005258461.4:c.1850C>T, XM_005258461.3:c.1850C>T, XM_005258461.2:c.1850C>T, XM_005258461.1:c.1850C>T, XM_005258465.6:c.1817C>T, XM_005258465.5:c.1817C>T, XM_005258465.4:c.1817C>T, XM_005258465.3:c.1817C>T, XM_005258465.2:c.1817C>T, XM_005258465.1:c.1817C>T, XM_005258459.5:c.2117C>T, XM_005258459.4:c.2117C>T, XM_005258459.3:c.2117C>T, XM_005258459.2:c.2117C>T, XM_005258459.1:c.2117C>T, XM_005258463.5:c.1817C>T, XM_005258463.4:c.1817C>T, XM_005258463.3:c.1817C>T, XM_005258463.2:c.1817C>T, XM_005258463.1:c.1817C>T, XM_005258464.5:c.1817C>T, XM_005258464.4:c.1817C>T, XM_005258464.3:c.1817C>T, XM_005258464.2:c.1817C>T, XM_005258464.1:c.1817C>T, NM_144732.5:c.1817C>T, NM_144732.4:c.1817C>T, NM_144732.3:c.1817C>T, NM_144732.2:c.1817C>T, XM_011526392.4:c.2117C>T, XM_011526392.3:c.2117C>T, XM_011526392.2:c.2117C>T, XM_011526392.1:c.2117C>T, XM_011526395.4:c.1817C>T, XM_011526395.3:c.1817C>T, XM_011526395.2:c.1817C>T, XM_011526395.1:c.1817C>T, XM_011526394.4:c.1817C>T, XM_011526394.3:c.1817C>T, XM_011526394.2:c.1817C>T, XM_011526394.1:c.1817C>T, XM_011526393.4:c.1817C>T, XM_011526393.3:c.1817C>T, XM_011526393.2:c.1817C>T, XM_011526393.1:c.1817C>T, NM_001301016.3:c.1850C>T, NM_001301016.2:c.1850C>T, NM_001301016.1:c.1850C>T, NM_001321208.2:c.1817C>T, NM_001321208.1:c.1817C>T, NM_001321211.2:c.1817C>T, NM_001321211.1:c.1817C>T, NM_144733.1:c.2117C>T, XM_047438114.1:c.1850C>T, XM_047438113.1:c.1817C>T, XM_047438115.1:c.1817C>T, NP_008971.2:p.Pro706Leu, XP_005258518.1:p.Pro617Leu, XP_005258522.1:p.Pro606Leu, XP_005258516.1:p.Pro706Leu, XP_005258520.1:p.Pro606Leu, XP_005258521.1:p.Pro606Leu, NP_653333.1:p.Pro606Leu, XP_011524694.1:p.Pro706Leu, XP_011524697.1:p.Pro606Leu, XP_011524696.1:p.Pro606Leu, XP_011524695.1:p.Pro606Leu, NP_001287945.1:p.Pro617Leu, NP_001308137.1:p.Pro606Leu, NP_001308140.1:p.Pro606Leu, XP_047294070.1:p.Pro617Leu, XP_047294069.1:p.Pro606Leu, XP_047294071.1:p.Pro606Leu

                              15.

                              rs1463535205 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                19:41276172 (GRCh38)
                                19:41782077 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:41276171:C:G
                                Gene:
                                HNRNPUL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.41276172C>G, NC_000019.9:g.41782077C>G, NM_007040.6:c.660C>G, NM_007040.5:c.660C>G, NM_007040.4:c.660C>G, NM_007040.3:c.660C>G, XM_005258461.6:c.393C>G, XM_005258461.5:c.393C>G, XM_005258461.4:c.393C>G, XM_005258461.3:c.393C>G, XM_005258461.2:c.393C>G, XM_005258461.1:c.393C>G, XM_005258465.6:c.360C>G, XM_005258465.5:c.360C>G, XM_005258465.4:c.360C>G, XM_005258465.3:c.360C>G, XM_005258465.2:c.360C>G, XM_005258465.1:c.360C>G, XM_005258459.5:c.660C>G, XM_005258459.4:c.660C>G, XM_005258459.3:c.660C>G, XM_005258459.2:c.660C>G, XM_005258459.1:c.660C>G, XM_005258463.5:c.360C>G, XM_005258463.4:c.360C>G, XM_005258463.3:c.360C>G, XM_005258463.2:c.360C>G, XM_005258463.1:c.360C>G, XM_005258464.5:c.360C>G, XM_005258464.4:c.360C>G, XM_005258464.3:c.360C>G, XM_005258464.2:c.360C>G, XM_005258464.1:c.360C>G, NM_144732.5:c.360C>G, NM_144732.4:c.360C>G, NM_144732.3:c.360C>G, NM_144732.2:c.360C>G, XM_011526392.4:c.660C>G, XM_011526392.3:c.660C>G, XM_011526392.2:c.660C>G, XM_011526392.1:c.660C>G, XM_011526395.4:c.360C>G, XM_011526395.3:c.360C>G, XM_011526395.2:c.360C>G, XM_011526395.1:c.360C>G, XM_011526394.4:c.360C>G, XM_011526394.3:c.360C>G, XM_011526394.2:c.360C>G, XM_011526394.1:c.360C>G, XM_011526393.4:c.360C>G, XM_011526393.3:c.360C>G, XM_011526393.2:c.360C>G, XM_011526393.1:c.360C>G, NM_001301016.3:c.393C>G, NM_001301016.2:c.393C>G, NM_001301016.1:c.393C>G, NM_001321208.2:c.360C>G, NM_001321208.1:c.360C>G, NM_001321211.2:c.360C>G, NM_001321211.1:c.360C>G, NM_144733.1:c.660C>G, XM_047438114.1:c.393C>G, XM_047438113.1:c.360C>G, XM_047438115.1:c.360C>G

                                16.

                                rs1463442605 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  19:41272233 (GRCh38)
                                  19:41778138 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:41272232:G:A,NC_000019.10:41272232:G:C
                                  Gene:
                                  HNRNPUL1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.41272233G>A, NC_000019.10:g.41272233G>C, NC_000019.9:g.41778138G>A, NC_000019.9:g.41778138G>C, NM_007040.6:c.570G>A, NM_007040.6:c.570G>C, NM_007040.5:c.570G>A, NM_007040.5:c.570G>C, NM_007040.4:c.570G>A, NM_007040.4:c.570G>C, NM_007040.3:c.570G>A, NM_007040.3:c.570G>C, XM_005258461.6:c.303G>A, XM_005258461.6:c.303G>C, XM_005258461.5:c.303G>A, XM_005258461.5:c.303G>C, XM_005258461.4:c.303G>A, XM_005258461.4:c.303G>C, XM_005258461.3:c.303G>A, XM_005258461.3:c.303G>C, XM_005258461.2:c.303G>A, XM_005258461.2:c.303G>C, XM_005258461.1:c.303G>A, XM_005258461.1:c.303G>C, XM_005258465.6:c.270G>A, XM_005258465.6:c.270G>C, XM_005258465.5:c.270G>A, XM_005258465.5:c.270G>C, XM_005258465.4:c.270G>A, XM_005258465.4:c.270G>C, XM_005258465.3:c.270G>A, XM_005258465.3:c.270G>C, XM_005258465.2:c.270G>A, XM_005258465.2:c.270G>C, XM_005258465.1:c.270G>A, XM_005258465.1:c.270G>C, XM_005258459.5:c.570G>A, XM_005258459.5:c.570G>C, XM_005258459.4:c.570G>A, XM_005258459.4:c.570G>C, XM_005258459.3:c.570G>A, XM_005258459.3:c.570G>C, XM_005258459.2:c.570G>A, XM_005258459.2:c.570G>C, XM_005258459.1:c.570G>A, XM_005258459.1:c.570G>C, XM_005258463.5:c.270G>A, XM_005258463.5:c.270G>C, XM_005258463.4:c.270G>A, XM_005258463.4:c.270G>C, XM_005258463.3:c.270G>A, XM_005258463.3:c.270G>C, XM_005258463.2:c.270G>A, XM_005258463.2:c.270G>C, XM_005258463.1:c.270G>A, XM_005258463.1:c.270G>C, XM_005258464.5:c.270G>A, XM_005258464.5:c.270G>C, XM_005258464.4:c.270G>A, XM_005258464.4:c.270G>C, XM_005258464.3:c.270G>A, XM_005258464.3:c.270G>C, XM_005258464.2:c.270G>A, XM_005258464.2:c.270G>C, XM_005258464.1:c.270G>A, XM_005258464.1:c.270G>C, NM_144732.5:c.270G>A, NM_144732.5:c.270G>C, NM_144732.4:c.270G>A, NM_144732.4:c.270G>C, NM_144732.3:c.270G>A, NM_144732.3:c.270G>C, NM_144732.2:c.270G>A, NM_144732.2:c.270G>C, XM_011526392.4:c.570G>A, XM_011526392.4:c.570G>C, XM_011526392.3:c.570G>A, XM_011526392.3:c.570G>C, XM_011526392.2:c.570G>A, XM_011526392.2:c.570G>C, XM_011526392.1:c.570G>A, XM_011526392.1:c.570G>C, XM_011526395.4:c.270G>A, XM_011526395.4:c.270G>C, XM_011526395.3:c.270G>A, XM_011526395.3:c.270G>C, XM_011526395.2:c.270G>A, XM_011526395.2:c.270G>C, XM_011526395.1:c.270G>A, XM_011526395.1:c.270G>C, XM_011526394.4:c.270G>A, XM_011526394.4:c.270G>C, XM_011526394.3:c.270G>A, XM_011526394.3:c.270G>C, XM_011526394.2:c.270G>A, XM_011526394.2:c.270G>C, XM_011526394.1:c.270G>A, XM_011526394.1:c.270G>C, XM_011526393.4:c.270G>A, XM_011526393.4:c.270G>C, XM_011526393.3:c.270G>A, XM_011526393.3:c.270G>C, XM_011526393.2:c.270G>A, XM_011526393.2:c.270G>C, XM_011526393.1:c.270G>A, XM_011526393.1:c.270G>C, NM_001301016.3:c.303G>A, NM_001301016.3:c.303G>C, NM_001301016.2:c.303G>A, NM_001301016.2:c.303G>C, NM_001301016.1:c.303G>A, NM_001301016.1:c.303G>C, NM_001321208.2:c.270G>A, NM_001321208.2:c.270G>C, NM_001321208.1:c.270G>A, NM_001321208.1:c.270G>C, NM_001321211.2:c.270G>A, NM_001321211.2:c.270G>C, NM_001321211.1:c.270G>A, NM_001321211.1:c.270G>C, NM_144733.1:c.570G>A, NM_144733.1:c.570G>C, XM_047438114.1:c.303G>A, XM_047438114.1:c.303G>C, XM_047438113.1:c.270G>A, XM_047438113.1:c.270G>C, XM_047438115.1:c.270G>A, XM_047438115.1:c.270G>C, NP_008971.2:p.Arg190Ser, XP_005258518.1:p.Arg101Ser, XP_005258522.1:p.Arg90Ser, XP_005258516.1:p.Arg190Ser, XP_005258520.1:p.Arg90Ser, XP_005258521.1:p.Arg90Ser, NP_653333.1:p.Arg90Ser, XP_011524694.1:p.Arg190Ser, XP_011524697.1:p.Arg90Ser, XP_011524696.1:p.Arg90Ser, XP_011524695.1:p.Arg90Ser, NP_001287945.1:p.Arg101Ser, NP_001308137.1:p.Arg90Ser, NP_001308140.1:p.Arg90Ser, XP_047294070.1:p.Arg101Ser, XP_047294069.1:p.Arg90Ser, XP_047294071.1:p.Arg90Ser

                                  17.

                                  rs1463363859 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    19:41281266 (GRCh38)
                                    19:41787171 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:41281265:C:G,NC_000019.10:41281265:C:T
                                    Gene:
                                    HNRNPUL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000051/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000019.10:g.41281266C>G, NC_000019.10:g.41281266C>T, NC_000019.9:g.41787171C>G, NC_000019.9:g.41787171C>T, NM_007040.6:c.990C>G, NM_007040.6:c.990C>T, NM_007040.5:c.990C>G, NM_007040.5:c.990C>T, NM_007040.4:c.990C>G, NM_007040.4:c.990C>T, NM_007040.3:c.990C>G, NM_007040.3:c.990C>T, XM_005258461.6:c.723C>G, XM_005258461.6:c.723C>T, XM_005258461.5:c.723C>G, XM_005258461.5:c.723C>T, XM_005258461.4:c.723C>G, XM_005258461.4:c.723C>T, XM_005258461.3:c.723C>G, XM_005258461.3:c.723C>T, XM_005258461.2:c.723C>G, XM_005258461.2:c.723C>T, XM_005258461.1:c.723C>G, XM_005258461.1:c.723C>T, XM_005258465.6:c.690C>G, XM_005258465.6:c.690C>T, XM_005258465.5:c.690C>G, XM_005258465.5:c.690C>T, XM_005258465.4:c.690C>G, XM_005258465.4:c.690C>T, XM_005258465.3:c.690C>G, XM_005258465.3:c.690C>T, XM_005258465.2:c.690C>G, XM_005258465.2:c.690C>T, XM_005258465.1:c.690C>G, XM_005258465.1:c.690C>T, XM_005258459.5:c.990C>G, XM_005258459.5:c.990C>T, XM_005258459.4:c.990C>G, XM_005258459.4:c.990C>T, XM_005258459.3:c.990C>G, XM_005258459.3:c.990C>T, XM_005258459.2:c.990C>G, XM_005258459.2:c.990C>T, XM_005258459.1:c.990C>G, XM_005258459.1:c.990C>T, XM_005258463.5:c.690C>G, XM_005258463.5:c.690C>T, XM_005258463.4:c.690C>G, XM_005258463.4:c.690C>T, XM_005258463.3:c.690C>G, XM_005258463.3:c.690C>T, XM_005258463.2:c.690C>G, XM_005258463.2:c.690C>T, XM_005258463.1:c.690C>G, XM_005258463.1:c.690C>T, XM_005258464.5:c.690C>G, XM_005258464.5:c.690C>T, XM_005258464.4:c.690C>G, XM_005258464.4:c.690C>T, XM_005258464.3:c.690C>G, XM_005258464.3:c.690C>T, XM_005258464.2:c.690C>G, XM_005258464.2:c.690C>T, XM_005258464.1:c.690C>G, XM_005258464.1:c.690C>T, NM_144732.5:c.690C>G, NM_144732.5:c.690C>T, NM_144732.4:c.690C>G, NM_144732.4:c.690C>T, NM_144732.3:c.690C>G, NM_144732.3:c.690C>T, NM_144732.2:c.690C>G, NM_144732.2:c.690C>T, XM_011526392.4:c.990C>G, XM_011526392.4:c.990C>T, XM_011526392.3:c.990C>G, XM_011526392.3:c.990C>T, XM_011526392.2:c.990C>G, XM_011526392.2:c.990C>T, XM_011526392.1:c.990C>G, XM_011526392.1:c.990C>T, XM_011526395.4:c.690C>G, XM_011526395.4:c.690C>T, XM_011526395.3:c.690C>G, XM_011526395.3:c.690C>T, XM_011526395.2:c.690C>G, XM_011526395.2:c.690C>T, XM_011526395.1:c.690C>G, XM_011526395.1:c.690C>T, XM_011526394.4:c.690C>G, XM_011526394.4:c.690C>T, XM_011526394.3:c.690C>G, XM_011526394.3:c.690C>T, XM_011526394.2:c.690C>G, XM_011526394.2:c.690C>T, XM_011526394.1:c.690C>G, XM_011526394.1:c.690C>T, XM_011526393.4:c.690C>G, XM_011526393.4:c.690C>T, XM_011526393.3:c.690C>G, XM_011526393.3:c.690C>T, XM_011526393.2:c.690C>G, XM_011526393.2:c.690C>T, XM_011526393.1:c.690C>G, XM_011526393.1:c.690C>T, NM_001301016.3:c.723C>G, NM_001301016.3:c.723C>T, NM_001301016.2:c.723C>G, NM_001301016.2:c.723C>T, NM_001301016.1:c.723C>G, NM_001301016.1:c.723C>T, NM_001321208.2:c.690C>G, NM_001321208.2:c.690C>T, NM_001321208.1:c.690C>G, NM_001321208.1:c.690C>T, NM_001321211.2:c.690C>G, NM_001321211.2:c.690C>T, NM_001321211.1:c.690C>G, NM_001321211.1:c.690C>T, NM_144733.1:c.990C>G, NM_144733.1:c.990C>T, XM_047438114.1:c.723C>G, XM_047438114.1:c.723C>T, XM_047438113.1:c.690C>G, XM_047438113.1:c.690C>T, XM_047438115.1:c.690C>G, XM_047438115.1:c.690C>T

                                    18.

                                    rs1462970804 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:41302895 (GRCh38)
                                      19:41808800 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:41302894:G:A
                                      Gene:
                                      HNRNPUL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:
                                      NC_000019.10:g.41302895G>A, NC_000019.9:g.41808800G>A, NM_007040.6:c.1918G>A, NM_007040.5:c.1918G>A, NM_007040.4:c.1918G>A, NM_007040.3:c.1918G>A, XM_005258461.6:c.1651G>A, XM_005258461.5:c.1651G>A, XM_005258461.4:c.1651G>A, XM_005258461.3:c.1651G>A, XM_005258461.2:c.1651G>A, XM_005258461.1:c.1651G>A, XM_005258465.6:c.1618G>A, XM_005258465.5:c.1618G>A, XM_005258465.4:c.1618G>A, XM_005258465.3:c.1618G>A, XM_005258465.2:c.1618G>A, XM_005258465.1:c.1618G>A, XM_005258459.5:c.1918G>A, XM_005258459.4:c.1918G>A, XM_005258459.3:c.1918G>A, XM_005258459.2:c.1918G>A, XM_005258459.1:c.1918G>A, XM_005258463.5:c.1618G>A, XM_005258463.4:c.1618G>A, XM_005258463.3:c.1618G>A, XM_005258463.2:c.1618G>A, XM_005258463.1:c.1618G>A, XM_005258464.5:c.1618G>A, XM_005258464.4:c.1618G>A, XM_005258464.3:c.1618G>A, XM_005258464.2:c.1618G>A, XM_005258464.1:c.1618G>A, NM_144732.5:c.1618G>A, NM_144732.4:c.1618G>A, NM_144732.3:c.1618G>A, NM_144732.2:c.1618G>A, XM_011526392.4:c.1918G>A, XM_011526392.3:c.1918G>A, XM_011526392.2:c.1918G>A, XM_011526392.1:c.1918G>A, XM_011526395.4:c.1618G>A, XM_011526395.3:c.1618G>A, XM_011526395.2:c.1618G>A, XM_011526395.1:c.1618G>A, XM_011526394.4:c.1618G>A, XM_011526394.3:c.1618G>A, XM_011526394.2:c.1618G>A, XM_011526394.1:c.1618G>A, XM_011526393.4:c.1618G>A, XM_011526393.3:c.1618G>A, XM_011526393.2:c.1618G>A, XM_011526393.1:c.1618G>A, NM_001301016.3:c.1651G>A, NM_001301016.2:c.1651G>A, NM_001301016.1:c.1651G>A, NM_001321208.2:c.1618G>A, NM_001321208.1:c.1618G>A, NM_001321211.2:c.1618G>A, NM_001321211.1:c.1618G>A, NM_144733.1:c.1918G>A, XM_047438114.1:c.1651G>A, XM_047438113.1:c.1618G>A, XM_047438115.1:c.1618G>A, NP_008971.2:p.Gly640Ser, XP_005258518.1:p.Gly551Ser, XP_005258522.1:p.Gly540Ser, XP_005258516.1:p.Gly640Ser, XP_005258520.1:p.Gly540Ser, XP_005258521.1:p.Gly540Ser, NP_653333.1:p.Gly540Ser, XP_011524694.1:p.Gly640Ser, XP_011524697.1:p.Gly540Ser, XP_011524696.1:p.Gly540Ser, XP_011524695.1:p.Gly540Ser, NP_001287945.1:p.Gly551Ser, NP_001308137.1:p.Gly540Ser, NP_001308140.1:p.Gly540Ser, XP_047294070.1:p.Gly551Ser, XP_047294069.1:p.Gly540Ser, XP_047294071.1:p.Gly540Ser

                                      19.

                                      rs1460973637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        19:41301664 (GRCh38)
                                        19:41807569 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:41301663:A:C,NC_000019.10:41301663:A:G
                                        Gene:
                                        HNRNPUL1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000043/6 (GnomAD)
                                        HGVS:
                                        NC_000019.10:g.41301664A>C, NC_000019.10:g.41301664A>G, NC_000019.9:g.41807569A>C, NC_000019.9:g.41807569A>G, NM_007040.6:c.1647A>C, NM_007040.6:c.1647A>G, NM_007040.5:c.1647A>C, NM_007040.5:c.1647A>G, NM_007040.4:c.1647A>C, NM_007040.4:c.1647A>G, NM_007040.3:c.1647A>C, NM_007040.3:c.1647A>G, XM_005258461.6:c.1380A>C, XM_005258461.6:c.1380A>G, XM_005258461.5:c.1380A>C, XM_005258461.5:c.1380A>G, XM_005258461.4:c.1380A>C, XM_005258461.4:c.1380A>G, XM_005258461.3:c.1380A>C, XM_005258461.3:c.1380A>G, XM_005258461.2:c.1380A>C, XM_005258461.2:c.1380A>G, XM_005258461.1:c.1380A>C, XM_005258461.1:c.1380A>G, XM_005258465.6:c.1347A>C, XM_005258465.6:c.1347A>G, XM_005258465.5:c.1347A>C, XM_005258465.5:c.1347A>G, XM_005258465.4:c.1347A>C, XM_005258465.4:c.1347A>G, XM_005258465.3:c.1347A>C, XM_005258465.3:c.1347A>G, XM_005258465.2:c.1347A>C, XM_005258465.2:c.1347A>G, XM_005258465.1:c.1347A>C, XM_005258465.1:c.1347A>G, XM_005258459.5:c.1647A>C, XM_005258459.5:c.1647A>G, XM_005258459.4:c.1647A>C, XM_005258459.4:c.1647A>G, XM_005258459.3:c.1647A>C, XM_005258459.3:c.1647A>G, XM_005258459.2:c.1647A>C, XM_005258459.2:c.1647A>G, XM_005258459.1:c.1647A>C, XM_005258459.1:c.1647A>G, XM_005258463.5:c.1347A>C, XM_005258463.5:c.1347A>G, XM_005258463.4:c.1347A>C, XM_005258463.4:c.1347A>G, XM_005258463.3:c.1347A>C, XM_005258463.3:c.1347A>G, XM_005258463.2:c.1347A>C, XM_005258463.2:c.1347A>G, XM_005258463.1:c.1347A>C, XM_005258463.1:c.1347A>G, XM_005258464.5:c.1347A>C, XM_005258464.5:c.1347A>G, XM_005258464.4:c.1347A>C, XM_005258464.4:c.1347A>G, XM_005258464.3:c.1347A>C, XM_005258464.3:c.1347A>G, XM_005258464.2:c.1347A>C, XM_005258464.2:c.1347A>G, XM_005258464.1:c.1347A>C, XM_005258464.1:c.1347A>G, NM_144732.5:c.1347A>C, NM_144732.5:c.1347A>G, NM_144732.4:c.1347A>C, NM_144732.4:c.1347A>G, NM_144732.3:c.1347A>C, NM_144732.3:c.1347A>G, NM_144732.2:c.1347A>C, NM_144732.2:c.1347A>G, XM_011526392.4:c.1647A>C, XM_011526392.4:c.1647A>G, XM_011526392.3:c.1647A>C, XM_011526392.3:c.1647A>G, XM_011526392.2:c.1647A>C, XM_011526392.2:c.1647A>G, XM_011526392.1:c.1647A>C, XM_011526392.1:c.1647A>G, XM_011526395.4:c.1347A>C, XM_011526395.4:c.1347A>G, XM_011526395.3:c.1347A>C, XM_011526395.3:c.1347A>G, XM_011526395.2:c.1347A>C, XM_011526395.2:c.1347A>G, XM_011526395.1:c.1347A>C, XM_011526395.1:c.1347A>G, XM_011526394.4:c.1347A>C, XM_011526394.4:c.1347A>G, XM_011526394.3:c.1347A>C, XM_011526394.3:c.1347A>G, XM_011526394.2:c.1347A>C, XM_011526394.2:c.1347A>G, XM_011526394.1:c.1347A>C, XM_011526394.1:c.1347A>G, XM_011526393.4:c.1347A>C, XM_011526393.4:c.1347A>G, XM_011526393.3:c.1347A>C, XM_011526393.3:c.1347A>G, XM_011526393.2:c.1347A>C, XM_011526393.2:c.1347A>G, XM_011526393.1:c.1347A>C, XM_011526393.1:c.1347A>G, NM_001301016.3:c.1380A>C, NM_001301016.3:c.1380A>G, NM_001301016.2:c.1380A>C, NM_001301016.2:c.1380A>G, NM_001301016.1:c.1380A>C, NM_001301016.1:c.1380A>G, NM_001321208.2:c.1347A>C, NM_001321208.2:c.1347A>G, NM_001321208.1:c.1347A>C, NM_001321208.1:c.1347A>G, NM_001321211.2:c.1347A>C, NM_001321211.2:c.1347A>G, NM_001321211.1:c.1347A>C, NM_001321211.1:c.1347A>G, NM_144733.1:c.1647A>C, NM_144733.1:c.1647A>G, XM_047438114.1:c.1380A>C, XM_047438114.1:c.1380A>G, XM_047438113.1:c.1347A>C, XM_047438113.1:c.1347A>G, XM_047438115.1:c.1347A>C, XM_047438115.1:c.1347A>G, NP_008971.2:p.Glu549Asp, XP_005258518.1:p.Glu460Asp, XP_005258522.1:p.Glu449Asp, XP_005258516.1:p.Glu549Asp, XP_005258520.1:p.Glu449Asp, XP_005258521.1:p.Glu449Asp, NP_653333.1:p.Glu449Asp, XP_011524694.1:p.Glu549Asp, XP_011524697.1:p.Glu449Asp, XP_011524696.1:p.Glu449Asp, XP_011524695.1:p.Glu449Asp, NP_001287945.1:p.Glu460Asp, NP_001308137.1:p.Glu449Asp, NP_001308140.1:p.Glu449Asp, XP_047294070.1:p.Glu460Asp, XP_047294069.1:p.Glu449Asp, XP_047294071.1:p.Glu449Asp

                                        20.

                                        rs1459966155 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          19:41305798 (GRCh38)
                                          19:41811703 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:41305797:C:G
                                          Gene:
                                          HNRNPUL1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.41305798C>G, NC_000019.9:g.41811703C>G, NM_007040.6:c.2385C>G, NM_007040.5:c.2385C>G, NM_007040.4:c.2385C>G, NM_007040.3:c.2385C>G, XM_005258461.6:c.2148C>G, XM_005258461.5:c.2148C>G, XM_005258461.4:c.2148C>G, XM_005258461.3:c.2148C>G, XM_005258461.2:c.2148C>G, XM_005258461.1:c.2148C>G, XM_005258465.6:c.2115C>G, XM_005258465.5:c.2115C>G, XM_005258465.4:c.2115C>G, XM_005258465.3:c.2115C>G, XM_005258465.2:c.2115C>G, XM_005258465.1:c.2115C>G, XM_005258459.5:c.2415C>G, XM_005258459.4:c.2415C>G, XM_005258459.3:c.2415C>G, XM_005258459.2:c.2415C>G, XM_005258459.1:c.2415C>G, XM_005258463.5:c.2115C>G, XM_005258463.4:c.2115C>G, XM_005258463.3:c.2115C>G, XM_005258463.2:c.2115C>G, XM_005258463.1:c.2115C>G, XM_005258464.5:c.2115C>G, XM_005258464.4:c.2115C>G, XM_005258464.3:c.2115C>G, XM_005258464.2:c.2115C>G, XM_005258464.1:c.2115C>G, NM_144732.5:c.2085C>G, NM_144732.4:c.2085C>G, NM_144732.3:c.2085C>G, NM_144732.2:c.2085C>G, XM_011526395.4:c.2115C>G, XM_011526395.3:c.2115C>G, XM_011526395.2:c.2115C>G, XM_011526395.1:c.2115C>G, XM_011526394.4:c.2115C>G, XM_011526394.3:c.2115C>G, XM_011526394.2:c.2115C>G, XM_011526394.1:c.2115C>G, XM_011526393.4:c.2115C>G, XM_011526393.3:c.2115C>G, XM_011526393.2:c.2115C>G, XM_011526393.1:c.2115C>G, NM_001301016.3:c.2118C>G, NM_001301016.2:c.2118C>G, NM_001301016.1:c.2118C>G, NM_001321208.2:c.2085C>G, NM_001321208.1:c.2085C>G, NM_001321211.2:c.2085C>G, NM_001321211.1:c.2085C>G, XM_047438113.1:c.2085C>G, NM_144734.1:c.313C>G

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