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Items: 1 to 20 of 318

1.

rs1487655766 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:34194608 (GRCh38)
    19:34685513 (GRCh37)
    Canonical SPDI:
    NC_000019.10:34194607:G:A
    Gene:
    LSM14A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.34194608G>A, NC_000019.9:g.34685513G>A, NW_003315963.1:g.42349G>A, XM_005258719.6:c.252G>A, XM_005258719.5:c.252G>A, XM_005258719.4:c.252G>A, XM_005258719.3:c.252G>A, XM_005258719.2:c.252G>A, XM_005258719.1:c.252G>A, XM_005258720.6:c.252G>A, XM_005258720.5:c.252G>A, XM_005258720.4:c.252G>A, XM_005258720.3:c.252G>A, XM_005258720.2:c.252G>A, XM_005258720.1:c.252G>A, XM_005258721.6:c.252G>A, XM_005258721.5:c.252G>A, XM_005258721.4:c.252G>A, XM_005258721.3:c.252G>A, XM_005258721.2:c.252G>A, XM_005258721.1:c.252G>A, XM_011526708.4:c.252G>A, XM_011526708.3:c.252G>A, XM_011526708.2:c.252G>A, XM_011526708.1:c.252G>A, NM_015578.4:c.252G>A, NM_015578.3:c.252G>A, NM_015578.2:c.252G>A, NM_001114093.3:c.252G>A, NM_001114093.2:c.252G>A, NM_001114093.1:c.252G>A, NM_001384434.1:c.-70G>A, NM_001384433.1:c.-70G>A, NM_001384431.1:c.-70G>A, NR_169261.1:n.391G>A, NR_169264.1:n.391G>A, NM_001384432.1:c.-172G>A, NM_001384430.1:c.-41G>A, NR_169263.1:n.391G>A, NR_169266.1:n.391G>A, NR_169265.1:n.391G>A, NM_001384420.1:c.252G>A, NM_001384422.1:c.252G>A, NM_001384423.1:c.252G>A, NM_001384437.1:c.-124G>A, NM_001384426.1:c.252G>A, NM_001384428.1:c.252G>A, NM_001384425.1:c.252G>A, NM_001384424.1:c.252G>A, NM_001384429.1:c.252G>A, NM_001384435.1:c.252G>A, NR_169262.1:n.391G>A, NM_001384436.1:c.252G>A, NM_001384421.1:c.252G>A, NM_001384427.1:c.252G>A

    2.

    rs1484726620 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      19:34219804 (GRCh38)
      19:34710709 (GRCh37)
      Canonical SPDI:
      NC_000019.10:34219803:G:T
      Gene:
      LSM14A (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000019.10:g.34219804G>T, NC_000019.9:g.34710709G>T, NW_003315963.1:g.67546G>T, XM_005258719.6:c.1063G>T, XM_005258719.5:c.1063G>T, XM_005258719.4:c.1063G>T, XM_005258719.3:c.1063G>T, XM_005258719.2:c.1063G>T, XM_005258719.1:c.1063G>T, XM_005258720.6:c.886G>T, XM_005258720.5:c.886G>T, XM_005258720.4:c.886G>T, XM_005258720.3:c.886G>T, XM_005258720.2:c.886G>T, XM_005258720.1:c.886G>T, XM_005258721.6:c.880G>T, XM_005258721.5:c.880G>T, XM_005258721.4:c.880G>T, XM_005258721.3:c.880G>T, XM_005258721.2:c.880G>T, XM_005258721.1:c.880G>T, XM_011526708.4:c.703G>T, XM_011526708.3:c.703G>T, XM_011526708.2:c.703G>T, XM_011526708.1:c.703G>T, NM_015578.4:c.1063G>T, NM_015578.3:c.1063G>T, NM_015578.2:c.1063G>T, NM_001114093.3:c.1063G>T, NM_001114093.2:c.1063G>T, NM_001114093.1:c.1063G>T, NM_001384434.1:c.742G>T, NM_001384433.1:c.742G>T, NM_001384431.1:c.742G>T, NR_169261.1:n.1286G>T, NR_169264.1:n.1268G>T, NM_001384432.1:c.742G>T, NM_001384430.1:c.781G>T, NR_169263.1:n.1198G>T, NR_169266.1:n.1202G>T, NR_169265.1:n.1198G>T, NM_001384420.1:c.1063G>T, NM_001384422.1:c.1030G>T, NM_001384423.1:c.940G>T, NM_001384437.1:c.559G>T, NM_001384426.1:c.886G>T, NM_001384428.1:c.880G>T, NM_001384425.1:c.886G>T, NM_001384424.1:c.886G>T, NM_001384429.1:c.820G>T, NM_001384435.1:c.703G>T, NM_001384436.1:c.703G>T, NM_001384421.1:c.1057G>T, NM_001384427.1:c.880G>T, XP_005258776.1:p.Asp355Tyr, XP_005258777.1:p.Asp296Tyr, XP_005258778.1:p.Asp294Tyr, XP_011525010.1:p.Asp235Tyr, NP_056393.2:p.Asp355Tyr, NP_001107565.1:p.Asp355Tyr, NP_001371363.1:p.Asp248Tyr, NP_001371362.1:p.Asp248Tyr, NP_001371360.1:p.Asp248Tyr, NP_001371361.1:p.Asp248Tyr, NP_001371359.1:p.Asp261Tyr, NP_001371349.1:p.Asp355Tyr, NP_001371351.1:p.Asp344Tyr, NP_001371352.1:p.Asp314Tyr, NP_001371366.1:p.Asp187Tyr, NP_001371355.1:p.Asp296Tyr, NP_001371357.1:p.Asp294Tyr, NP_001371354.1:p.Asp296Tyr, NP_001371353.1:p.Asp296Tyr, NP_001371358.1:p.Asp274Tyr, NP_001371364.1:p.Asp235Tyr, NP_001371365.1:p.Asp235Tyr, NP_001371350.1:p.Asp353Tyr, NP_001371356.1:p.Asp294Tyr

      3.

      rs1482324176 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:34221714 (GRCh38)
        19:34712619 (GRCh37)
        Canonical SPDI:
        NC_000019.10:34221713:G:A
        Gene:
        LSM14A (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.34221714G>A, NC_000019.9:g.34712619G>A, NW_003315963.1:g.69456G>A, XM_005258719.6:c.1344G>A, XM_005258719.5:c.1344G>A, XM_005258719.4:c.1344G>A, XM_005258719.3:c.1344G>A, XM_005258719.2:c.1344G>A, XM_005258719.1:c.1344G>A, XM_005258720.6:c.1167G>A, XM_005258720.5:c.1167G>A, XM_005258720.4:c.1167G>A, XM_005258720.3:c.1167G>A, XM_005258720.2:c.1167G>A, XM_005258720.1:c.1167G>A, XM_005258721.6:c.1161G>A, XM_005258721.5:c.1161G>A, XM_005258721.4:c.1161G>A, XM_005258721.3:c.1161G>A, XM_005258721.2:c.1161G>A, XM_005258721.1:c.1161G>A, XM_011526708.4:c.984G>A, XM_011526708.3:c.984G>A, XM_011526708.2:c.984G>A, XM_011526708.1:c.984G>A, NM_015578.4:c.1344G>A, NM_015578.3:c.1344G>A, NM_015578.2:c.1344G>A, NM_001114093.3:c.1344G>A, NM_001114093.2:c.1344G>A, NM_001114093.1:c.1344G>A, NM_001384434.1:c.1023G>A, NM_001384433.1:c.1023G>A, NM_001384431.1:c.1023G>A, NR_169261.1:n.1567G>A, NR_169264.1:n.1549G>A, NM_001384432.1:c.1023G>A, NM_001384430.1:c.1062G>A, NR_169263.1:n.1479G>A, NR_169266.1:n.1503G>A, NR_169265.1:n.1479G>A, NM_001384420.1:c.1344G>A, NM_001384422.1:c.1311G>A, NM_001384423.1:c.1221G>A, NM_001384437.1:c.840G>A, NM_001384426.1:c.1167G>A, NM_001384428.1:c.1161G>A, NM_001384425.1:c.1167G>A, NM_001384424.1:c.1167G>A, NM_001384429.1:c.1101G>A, NM_001384435.1:c.984G>A, NR_169262.1:n.1128G>A, NM_001384436.1:c.984G>A, NM_001384421.1:c.1338G>A, NM_001384427.1:c.1161G>A

        4.

        rs1479391608 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          19:34215216 (GRCh38)
          19:34706121 (GRCh37)
          Canonical SPDI:
          NC_000019.10:34215215:G:T
          Gene:
          LSM14A (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.34215216G>T, NC_000019.9:g.34706121G>T, NW_003315963.1:g.62957G>T, XM_005258719.6:c.631G>T, XM_005258719.5:c.631G>T, XM_005258719.4:c.631G>T, XM_005258719.3:c.631G>T, XM_005258719.2:c.631G>T, XM_005258719.1:c.631G>T, XM_005258721.6:c.631G>T, XM_005258721.5:c.631G>T, XM_005258721.4:c.631G>T, XM_005258721.3:c.631G>T, XM_005258721.2:c.631G>T, XM_005258721.1:c.631G>T, NM_015578.4:c.631G>T, NM_015578.3:c.631G>T, NM_015578.2:c.631G>T, NM_001114093.3:c.631G>T, NM_001114093.2:c.631G>T, NM_001114093.1:c.631G>T, NM_001384434.1:c.310G>T, NM_001384433.1:c.310G>T, NM_001384431.1:c.310G>T, NR_169261.1:n.854G>T, NR_169264.1:n.836G>T, NM_001384432.1:c.310G>T, NM_001384430.1:c.349G>T, NR_169263.1:n.770G>T, NR_169266.1:n.770G>T, NR_169265.1:n.770G>T, NM_001384420.1:c.631G>T, NM_001384422.1:c.598G>T, NM_001384423.1:c.508G>T, NM_001384437.1:c.310G>T, NM_001384428.1:c.631G>T, NR_169262.1:n.770G>T, NM_001384421.1:c.631G>T, NM_001384427.1:c.631G>T, XP_005258776.1:p.Ala211Ser, XP_005258778.1:p.Ala211Ser, NP_056393.2:p.Ala211Ser, NP_001107565.1:p.Ala211Ser, NP_001371363.1:p.Ala104Ser, NP_001371362.1:p.Ala104Ser, NP_001371360.1:p.Ala104Ser, NP_001371361.1:p.Ala104Ser, NP_001371359.1:p.Ala117Ser, NP_001371349.1:p.Ala211Ser, NP_001371351.1:p.Ala200Ser, NP_001371352.1:p.Ala170Ser, NP_001371366.1:p.Ala104Ser, NP_001371357.1:p.Ala211Ser, NP_001371350.1:p.Ala211Ser, NP_001371356.1:p.Ala211Ser

          5.

          rs1475604813 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:34194501 (GRCh38)
            19:34685406 (GRCh37)
            Canonical SPDI:
            NC_000019.10:34194500:A:C
            Gene:
            LSM14A (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.34194501A>C, NC_000019.9:g.34685406A>C, NW_003315963.1:g.42242A>C, XM_005258719.6:c.145A>C, XM_005258719.5:c.145A>C, XM_005258719.4:c.145A>C, XM_005258719.3:c.145A>C, XM_005258719.2:c.145A>C, XM_005258719.1:c.145A>C, XM_005258720.6:c.145A>C, XM_005258720.5:c.145A>C, XM_005258720.4:c.145A>C, XM_005258720.3:c.145A>C, XM_005258720.2:c.145A>C, XM_005258720.1:c.145A>C, XM_005258721.6:c.145A>C, XM_005258721.5:c.145A>C, XM_005258721.4:c.145A>C, XM_005258721.3:c.145A>C, XM_005258721.2:c.145A>C, XM_005258721.1:c.145A>C, XM_011526708.4:c.145A>C, XM_011526708.3:c.145A>C, XM_011526708.2:c.145A>C, XM_011526708.1:c.145A>C, NM_015578.4:c.145A>C, NM_015578.3:c.145A>C, NM_015578.2:c.145A>C, NM_001114093.3:c.145A>C, NM_001114093.2:c.145A>C, NM_001114093.1:c.145A>C, NM_001384434.1:c.-177A>C, NM_001384433.1:c.-177A>C, NM_001384431.1:c.-177A>C, NR_169261.1:n.284A>C, NR_169264.1:n.284A>C, NM_001384432.1:c.-279A>C, NM_001384430.1:c.-148A>C, NR_169263.1:n.284A>C, NR_169266.1:n.284A>C, NR_169265.1:n.284A>C, NM_001384420.1:c.145A>C, NM_001384422.1:c.145A>C, NM_001384423.1:c.145A>C, NM_001384437.1:c.-231A>C, NM_001384426.1:c.145A>C, NM_001384428.1:c.145A>C, NM_001384425.1:c.145A>C, NM_001384424.1:c.145A>C, NM_001384429.1:c.145A>C, NM_001384435.1:c.145A>C, NR_169262.1:n.284A>C, NM_001384436.1:c.145A>C, NM_001384421.1:c.145A>C, NM_001384427.1:c.145A>C

            6.

            rs1474041438 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:34215191 (GRCh38)
              19:34706096 (GRCh37)
              Canonical SPDI:
              NC_000019.10:34215190:C:G
              Gene:
              LSM14A (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000019.10:g.34215191C>G, NC_000019.9:g.34706096C>G, NW_003315963.1:g.62932C>G, XM_005258719.6:c.606C>G, XM_005258719.5:c.606C>G, XM_005258719.4:c.606C>G, XM_005258719.3:c.606C>G, XM_005258719.2:c.606C>G, XM_005258719.1:c.606C>G, XM_005258721.6:c.606C>G, XM_005258721.5:c.606C>G, XM_005258721.4:c.606C>G, XM_005258721.3:c.606C>G, XM_005258721.2:c.606C>G, XM_005258721.1:c.606C>G, NM_015578.4:c.606C>G, NM_015578.3:c.606C>G, NM_015578.2:c.606C>G, NM_001114093.3:c.606C>G, NM_001114093.2:c.606C>G, NM_001114093.1:c.606C>G, NM_001384434.1:c.285C>G, NM_001384433.1:c.285C>G, NM_001384431.1:c.285C>G, NR_169261.1:n.829C>G, NR_169264.1:n.811C>G, NM_001384432.1:c.285C>G, NM_001384430.1:c.324C>G, NR_169263.1:n.745C>G, NR_169266.1:n.745C>G, NR_169265.1:n.745C>G, NM_001384420.1:c.606C>G, NM_001384422.1:c.573C>G, NM_001384423.1:c.483C>G, NM_001384437.1:c.285C>G, NM_001384428.1:c.606C>G, NR_169262.1:n.745C>G, NM_001384421.1:c.606C>G, NM_001384427.1:c.606C>G

              7.

              rs1473118820 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:34221748 (GRCh38)
                19:34712653 (GRCh37)
                Canonical SPDI:
                NC_000019.10:34221747:A:G
                Gene:
                LSM14A (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1472845270 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:34209051 (GRCh38)
                  19:34699956 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:34209050:G:A
                  Gene:
                  LSM14A (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.34209051G>A, NC_000019.9:g.34699956G>A, NW_003315963.1:g.56792G>A, XM_005258719.6:c.538G>A, XM_005258719.5:c.538G>A, XM_005258719.4:c.538G>A, XM_005258719.3:c.538G>A, XM_005258719.2:c.538G>A, XM_005258719.1:c.538G>A, XM_005258720.6:c.538G>A, XM_005258720.5:c.538G>A, XM_005258720.4:c.538G>A, XM_005258720.3:c.538G>A, XM_005258720.2:c.538G>A, XM_005258720.1:c.538G>A, XM_005258721.6:c.538G>A, XM_005258721.5:c.538G>A, XM_005258721.4:c.538G>A, XM_005258721.3:c.538G>A, XM_005258721.2:c.538G>A, XM_005258721.1:c.538G>A, XM_011526708.4:c.538G>A, XM_011526708.3:c.538G>A, XM_011526708.2:c.538G>A, XM_011526708.1:c.538G>A, NM_015578.4:c.538G>A, NM_015578.3:c.538G>A, NM_015578.2:c.538G>A, NM_001114093.3:c.538G>A, NM_001114093.2:c.538G>A, NM_001114093.1:c.538G>A, NM_001384434.1:c.217G>A, NM_001384433.1:c.217G>A, NM_001384431.1:c.217G>A, NR_169261.1:n.761G>A, NR_169264.1:n.743G>A, NM_001384432.1:c.217G>A, NM_001384430.1:c.256G>A, NR_169263.1:n.677G>A, NR_169266.1:n.677G>A, NR_169265.1:n.677G>A, NM_001384420.1:c.538G>A, NM_001384422.1:c.505G>A, NM_001384437.1:c.217G>A, NM_001384426.1:c.538G>A, NM_001384428.1:c.538G>A, NM_001384425.1:c.538G>A, NM_001384424.1:c.538G>A, NM_001384429.1:c.538G>A, NM_001384435.1:c.538G>A, NR_169262.1:n.677G>A, NM_001384436.1:c.538G>A, NM_001384421.1:c.538G>A, NM_001384427.1:c.538G>A, XP_005258776.1:p.Gly180Ser, XP_005258777.1:p.Ala180Thr, XP_005258778.1:p.Gly180Ser, XP_011525010.1:p.Ala180Thr, NP_056393.2:p.Gly180Ser, NP_001107565.1:p.Gly180Ser, NP_001371363.1:p.Gly73Ser, NP_001371362.1:p.Gly73Ser, NP_001371360.1:p.Gly73Ser, NP_001371361.1:p.Gly73Ser, NP_001371359.1:p.Gly86Ser, NP_001371349.1:p.Gly180Ser, NP_001371351.1:p.Gly169Ser, NP_001371366.1:p.Gly73Ser, NP_001371355.1:p.Ala180Thr, NP_001371357.1:p.Gly180Ser, NP_001371354.1:p.Ala180Thr, NP_001371353.1:p.Ala180Thr, NP_001371358.1:p.Ala180Thr, NP_001371364.1:p.Ala180Thr, NP_001371365.1:p.Ala180Thr, NP_001371350.1:p.Gly180Ser, NP_001371356.1:p.Gly180Ser

                  9.

                  rs1465569587 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:34215226 (GRCh38)
                    19:34706131 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:34215225:G:A
                    Gene:
                    LSM14A (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000019.10:g.34215226G>A, NC_000019.9:g.34706131G>A, NW_003315963.1:g.62967G>A, XM_005258719.6:c.641G>A, XM_005258719.5:c.641G>A, XM_005258719.4:c.641G>A, XM_005258719.3:c.641G>A, XM_005258719.2:c.641G>A, XM_005258719.1:c.641G>A, XM_005258721.6:c.641G>A, XM_005258721.5:c.641G>A, XM_005258721.4:c.641G>A, XM_005258721.3:c.641G>A, XM_005258721.2:c.641G>A, XM_005258721.1:c.641G>A, NM_015578.4:c.641G>A, NM_015578.3:c.641G>A, NM_015578.2:c.641G>A, NM_001114093.3:c.641G>A, NM_001114093.2:c.641G>A, NM_001114093.1:c.641G>A, NM_001384434.1:c.320G>A, NM_001384433.1:c.320G>A, NM_001384431.1:c.320G>A, NR_169261.1:n.864G>A, NR_169264.1:n.846G>A, NM_001384432.1:c.320G>A, NM_001384430.1:c.359G>A, NR_169263.1:n.780G>A, NR_169266.1:n.780G>A, NR_169265.1:n.780G>A, NM_001384420.1:c.641G>A, NM_001384422.1:c.608G>A, NM_001384423.1:c.518G>A, NM_001384437.1:c.320G>A, NM_001384428.1:c.641G>A, NR_169262.1:n.780G>A, NM_001384421.1:c.641G>A, NM_001384427.1:c.641G>A, XP_005258776.1:p.Arg214Lys, XP_005258778.1:p.Arg214Lys, NP_056393.2:p.Arg214Lys, NP_001107565.1:p.Arg214Lys, NP_001371363.1:p.Arg107Lys, NP_001371362.1:p.Arg107Lys, NP_001371360.1:p.Arg107Lys, NP_001371361.1:p.Arg107Lys, NP_001371359.1:p.Arg120Lys, NP_001371349.1:p.Arg214Lys, NP_001371351.1:p.Arg203Lys, NP_001371352.1:p.Arg173Lys, NP_001371366.1:p.Arg107Lys, NP_001371357.1:p.Arg214Lys, NP_001371350.1:p.Arg214Lys, NP_001371356.1:p.Arg214Lys

                    10.

                    rs1462020133 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:34172685 (GRCh38)
                      19:34663590 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:34172684:A:G
                      Gene:
                      LSM14A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.34172685A>G, NC_000019.9:g.34663590A>G, NW_003315963.1:g.20426A>G, XM_005258719.6:c.43A>G, XM_005258719.5:c.43A>G, XM_005258719.4:c.43A>G, XM_005258719.3:c.43A>G, XM_005258719.2:c.43A>G, XM_005258719.1:c.43A>G, XM_005258720.6:c.43A>G, XM_005258720.5:c.43A>G, XM_005258720.4:c.43A>G, XM_005258720.3:c.43A>G, XM_005258720.2:c.43A>G, XM_005258720.1:c.43A>G, XM_005258721.6:c.43A>G, XM_005258721.5:c.43A>G, XM_005258721.4:c.43A>G, XM_005258721.3:c.43A>G, XM_005258721.2:c.43A>G, XM_005258721.1:c.43A>G, XM_011526708.4:c.43A>G, XM_011526708.3:c.43A>G, XM_011526708.2:c.43A>G, XM_011526708.1:c.43A>G, NM_015578.4:c.43A>G, NM_015578.3:c.43A>G, NM_015578.2:c.43A>G, NM_001114093.3:c.43A>G, NM_001114093.2:c.43A>G, NM_001114093.1:c.43A>G, NM_001384434.1:c.-988A>G, NM_001384433.1:c.-846A>G, NM_001384431.1:c.-397A>G, NR_169261.1:n.182A>G, NR_169264.1:n.182A>G, NM_001384432.1:c.-381A>G, NM_001384430.1:c.-250A>G, NR_169263.1:n.182A>G, NR_169266.1:n.182A>G, NR_169265.1:n.182A>G, NM_001384420.1:c.43A>G, NM_001384422.1:c.43A>G, NM_001384423.1:c.43A>G, NM_001384437.1:c.-333A>G, NM_001384426.1:c.43A>G, NM_001384428.1:c.43A>G, NM_001384425.1:c.43A>G, NM_001384424.1:c.43A>G, NM_001384429.1:c.43A>G, NM_001384435.1:c.43A>G, NR_169262.1:n.182A>G, NM_001384436.1:c.43A>G, NM_001384421.1:c.43A>G, NM_001384427.1:c.43A>G, XP_005258776.1:p.Ile15Val, XP_005258777.1:p.Ile15Val, XP_005258778.1:p.Ile15Val, XP_011525010.1:p.Ile15Val, NP_056393.2:p.Ile15Val, NP_001107565.1:p.Ile15Val, NP_001371349.1:p.Ile15Val, NP_001371351.1:p.Ile15Val, NP_001371352.1:p.Ile15Val, NP_001371355.1:p.Ile15Val, NP_001371357.1:p.Ile15Val, NP_001371354.1:p.Ile15Val, NP_001371353.1:p.Ile15Val, NP_001371358.1:p.Ile15Val, NP_001371364.1:p.Ile15Val, NP_001371365.1:p.Ile15Val, NP_001371350.1:p.Ile15Val, NP_001371356.1:p.Ile15Val

                      11.

                      rs1456876286 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:34221589 (GRCh38)
                        19:34712494 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:34221588:G:T
                        Gene:
                        LSM14A (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.34221589G>T, NC_000019.9:g.34712494G>T, NW_003315963.1:g.69331G>T, XM_005258719.6:c.1219G>T, XM_005258719.5:c.1219G>T, XM_005258719.4:c.1219G>T, XM_005258719.3:c.1219G>T, XM_005258719.2:c.1219G>T, XM_005258719.1:c.1219G>T, XM_005258720.6:c.1042G>T, XM_005258720.5:c.1042G>T, XM_005258720.4:c.1042G>T, XM_005258720.3:c.1042G>T, XM_005258720.2:c.1042G>T, XM_005258720.1:c.1042G>T, XM_005258721.6:c.1036G>T, XM_005258721.5:c.1036G>T, XM_005258721.4:c.1036G>T, XM_005258721.3:c.1036G>T, XM_005258721.2:c.1036G>T, XM_005258721.1:c.1036G>T, XM_011526708.4:c.859G>T, XM_011526708.3:c.859G>T, XM_011526708.2:c.859G>T, XM_011526708.1:c.859G>T, NM_015578.4:c.1219G>T, NM_015578.3:c.1219G>T, NM_015578.2:c.1219G>T, NM_001114093.3:c.1219G>T, NM_001114093.2:c.1219G>T, NM_001114093.1:c.1219G>T, NM_001384434.1:c.898G>T, NM_001384433.1:c.898G>T, NM_001384431.1:c.898G>T, NR_169261.1:n.1442G>T, NR_169264.1:n.1424G>T, NM_001384432.1:c.898G>T, NM_001384430.1:c.937G>T, NR_169263.1:n.1354G>T, NR_169266.1:n.1378G>T, NR_169265.1:n.1354G>T, NM_001384420.1:c.1219G>T, NM_001384422.1:c.1186G>T, NM_001384423.1:c.1096G>T, NM_001384437.1:c.715G>T, NM_001384426.1:c.1042G>T, NM_001384428.1:c.1036G>T, NM_001384425.1:c.1042G>T, NM_001384424.1:c.1042G>T, NM_001384429.1:c.976G>T, NM_001384435.1:c.859G>T, NR_169262.1:n.1003G>T, NM_001384436.1:c.859G>T, NM_001384421.1:c.1213G>T, NM_001384427.1:c.1036G>T, XP_005258776.1:p.Gly407Trp, XP_005258777.1:p.Gly348Trp, XP_005258778.1:p.Gly346Trp, XP_011525010.1:p.Gly287Trp, NP_056393.2:p.Gly407Trp, NP_001107565.1:p.Gly407Trp, NP_001371363.1:p.Gly300Trp, NP_001371362.1:p.Gly300Trp, NP_001371360.1:p.Gly300Trp, NP_001371361.1:p.Gly300Trp, NP_001371359.1:p.Gly313Trp, NP_001371349.1:p.Gly407Trp, NP_001371351.1:p.Gly396Trp, NP_001371352.1:p.Gly366Trp, NP_001371366.1:p.Gly239Trp, NP_001371355.1:p.Gly348Trp, NP_001371357.1:p.Gly346Trp, NP_001371354.1:p.Gly348Trp, NP_001371353.1:p.Gly348Trp, NP_001371358.1:p.Gly326Trp, NP_001371364.1:p.Gly287Trp, NP_001371365.1:p.Gly287Trp, NP_001371350.1:p.Gly405Trp, NP_001371356.1:p.Gly346Trp

                        12.

                        rs1454902056 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:34196640 (GRCh38)
                          19:34687545 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:34196639:C:G
                          Gene:
                          LSM14A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.34196640C>G, NC_000019.9:g.34687545C>G, NW_003315963.1:g.44381C>G, XM_005258719.6:c.292C>G, XM_005258719.5:c.292C>G, XM_005258719.4:c.292C>G, XM_005258719.3:c.292C>G, XM_005258719.2:c.292C>G, XM_005258719.1:c.292C>G, XM_005258720.6:c.292C>G, XM_005258720.5:c.292C>G, XM_005258720.4:c.292C>G, XM_005258720.3:c.292C>G, XM_005258720.2:c.292C>G, XM_005258720.1:c.292C>G, XM_005258721.6:c.292C>G, XM_005258721.5:c.292C>G, XM_005258721.4:c.292C>G, XM_005258721.3:c.292C>G, XM_005258721.2:c.292C>G, XM_005258721.1:c.292C>G, XM_011526708.4:c.292C>G, XM_011526708.3:c.292C>G, XM_011526708.2:c.292C>G, XM_011526708.1:c.292C>G, NM_015578.4:c.292C>G, NM_015578.3:c.292C>G, NM_015578.2:c.292C>G, NM_001114093.3:c.292C>G, NM_001114093.2:c.292C>G, NM_001114093.1:c.292C>G, NM_001384434.1:c.-30C>G, NM_001384433.1:c.-30C>G, NM_001384431.1:c.-30C>G, NR_169261.1:n.431C>G, NR_169264.1:n.431C>G, NM_001384432.1:c.-30C>G, NM_001384430.1:c.10C>G, NR_169263.1:n.431C>G, NR_169266.1:n.431C>G, NR_169265.1:n.431C>G, NM_001384420.1:c.292C>G, NM_001384423.1:c.292C>G, NM_001384437.1:c.-30C>G, NM_001384426.1:c.292C>G, NM_001384428.1:c.292C>G, NM_001384425.1:c.292C>G, NM_001384424.1:c.292C>G, NM_001384429.1:c.292C>G, NM_001384435.1:c.292C>G, NR_169262.1:n.431C>G, NM_001384436.1:c.292C>G, NM_001384421.1:c.292C>G, NM_001384427.1:c.292C>G, XP_005258776.1:p.Leu98Val, XP_005258777.1:p.Leu98Val, XP_005258778.1:p.Leu98Val, XP_011525010.1:p.Leu98Val, NP_056393.2:p.Leu98Val, NP_001107565.1:p.Leu98Val, NP_001371359.1:p.Leu4Val, NP_001371349.1:p.Leu98Val, NP_001371352.1:p.Leu98Val, NP_001371355.1:p.Leu98Val, NP_001371357.1:p.Leu98Val, NP_001371354.1:p.Leu98Val, NP_001371353.1:p.Leu98Val, NP_001371358.1:p.Leu98Val, NP_001371364.1:p.Leu98Val, NP_001371365.1:p.Leu98Val, NP_001371350.1:p.Leu98Val, NP_001371356.1:p.Leu98Val

                          13.

                          rs1453723835 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:34215604 (GRCh38)
                            19:34706509 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:34215603:C:T
                            Gene:
                            LSM14A (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.34215604C>T, NC_000019.9:g.34706509C>T, NW_003315963.1:g.63345C>T, XM_005258719.6:c.724C>T, XM_005258719.5:c.724C>T, XM_005258719.4:c.724C>T, XM_005258719.3:c.724C>T, XM_005258719.2:c.724C>T, XM_005258719.1:c.724C>T, XM_005258720.6:c.547C>T, XM_005258720.5:c.547C>T, XM_005258720.4:c.547C>T, XM_005258720.3:c.547C>T, XM_005258720.2:c.547C>T, XM_005258720.1:c.547C>T, XM_005258721.6:c.724C>T, XM_005258721.5:c.724C>T, XM_005258721.4:c.724C>T, XM_005258721.3:c.724C>T, XM_005258721.2:c.724C>T, XM_005258721.1:c.724C>T, XM_011526708.4:c.547C>T, XM_011526708.3:c.547C>T, XM_011526708.2:c.547C>T, XM_011526708.1:c.547C>T, NM_015578.4:c.724C>T, NM_015578.3:c.724C>T, NM_015578.2:c.724C>T, NM_001114093.3:c.724C>T, NM_001114093.2:c.724C>T, NM_001114093.1:c.724C>T, NM_001384434.1:c.403C>T, NM_001384433.1:c.403C>T, NM_001384431.1:c.403C>T, NR_169261.1:n.947C>T, NR_169264.1:n.929C>T, NM_001384432.1:c.403C>T, NM_001384430.1:c.442C>T, NR_169263.1:n.863C>T, NR_169266.1:n.863C>T, NR_169265.1:n.863C>T, NM_001384420.1:c.724C>T, NM_001384422.1:c.691C>T, NM_001384423.1:c.601C>T, NM_001384437.1:c.403C>T, NM_001384426.1:c.547C>T, NM_001384428.1:c.724C>T, NM_001384425.1:c.547C>T, NM_001384424.1:c.547C>T, NM_001384435.1:c.547C>T, NR_169262.1:n.863C>T, NM_001384436.1:c.547C>T, NM_001384421.1:c.724C>T, NM_001384427.1:c.724C>T, XP_005258776.1:p.His242Tyr, XP_005258777.1:p.His183Tyr, XP_005258778.1:p.His242Tyr, XP_011525010.1:p.His183Tyr, NP_056393.2:p.His242Tyr, NP_001107565.1:p.His242Tyr, NP_001371363.1:p.His135Tyr, NP_001371362.1:p.His135Tyr, NP_001371360.1:p.His135Tyr, NP_001371361.1:p.His135Tyr, NP_001371359.1:p.His148Tyr, NP_001371349.1:p.His242Tyr, NP_001371351.1:p.His231Tyr, NP_001371352.1:p.His201Tyr, NP_001371366.1:p.His135Tyr, NP_001371355.1:p.His183Tyr, NP_001371357.1:p.His242Tyr, NP_001371354.1:p.His183Tyr, NP_001371353.1:p.His183Tyr, NP_001371364.1:p.His183Tyr, NP_001371365.1:p.His183Tyr, NP_001371350.1:p.His242Tyr, NP_001371356.1:p.His242Tyr

                            14.

                            rs1450849693 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:34221828 (GRCh38)
                              19:34712733 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:34221827:G:A
                              Gene:
                              LSM14A (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1442325003 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:34194624 (GRCh38)
                                19:34685529 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:34194623:G:A
                                Gene:
                                LSM14A (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.34194624G>A, NC_000019.9:g.34685529G>A, NW_003315963.1:g.42365G>A, XM_005258719.6:c.268G>A, XM_005258719.5:c.268G>A, XM_005258719.4:c.268G>A, XM_005258719.3:c.268G>A, XM_005258719.2:c.268G>A, XM_005258719.1:c.268G>A, XM_005258720.6:c.268G>A, XM_005258720.5:c.268G>A, XM_005258720.4:c.268G>A, XM_005258720.3:c.268G>A, XM_005258720.2:c.268G>A, XM_005258720.1:c.268G>A, XM_005258721.6:c.268G>A, XM_005258721.5:c.268G>A, XM_005258721.4:c.268G>A, XM_005258721.3:c.268G>A, XM_005258721.2:c.268G>A, XM_005258721.1:c.268G>A, XM_011526708.4:c.268G>A, XM_011526708.3:c.268G>A, XM_011526708.2:c.268G>A, XM_011526708.1:c.268G>A, NM_015578.4:c.268G>A, NM_015578.3:c.268G>A, NM_015578.2:c.268G>A, NM_001114093.3:c.268G>A, NM_001114093.2:c.268G>A, NM_001114093.1:c.268G>A, NM_001384434.1:c.-54G>A, NM_001384433.1:c.-54G>A, NM_001384431.1:c.-54G>A, NR_169261.1:n.407G>A, NR_169264.1:n.407G>A, NM_001384432.1:c.-156G>A, NM_001384430.1:c.-25G>A, NR_169263.1:n.407G>A, NR_169266.1:n.407G>A, NR_169265.1:n.407G>A, NM_001384420.1:c.268G>A, NM_001384422.1:c.268G>A, NM_001384423.1:c.268G>A, NM_001384437.1:c.-108G>A, NM_001384426.1:c.268G>A, NM_001384428.1:c.268G>A, NM_001384425.1:c.268G>A, NM_001384424.1:c.268G>A, NM_001384429.1:c.268G>A, NM_001384435.1:c.268G>A, NR_169262.1:n.407G>A, NM_001384436.1:c.268G>A, NM_001384421.1:c.268G>A, NM_001384427.1:c.268G>A, XP_005258776.1:p.Asp90Asn, XP_005258777.1:p.Asp90Asn, XP_005258778.1:p.Asp90Asn, XP_011525010.1:p.Asp90Asn, NP_056393.2:p.Asp90Asn, NP_001107565.1:p.Asp90Asn, NP_001371349.1:p.Asp90Asn, NP_001371351.1:p.Asp90Asn, NP_001371352.1:p.Asp90Asn, NP_001371355.1:p.Asp90Asn, NP_001371357.1:p.Asp90Asn, NP_001371354.1:p.Asp90Asn, NP_001371353.1:p.Asp90Asn, NP_001371358.1:p.Asp90Asn, NP_001371364.1:p.Asp90Asn, NP_001371365.1:p.Asp90Asn, NP_001371350.1:p.Asp90Asn, NP_001371356.1:p.Asp90Asn

                                16.

                                rs1442287373 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  19:34172678 (GRCh38)
                                  19:34663583 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:34172677:C:A
                                  Gene:
                                  LSM14A (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by cluster
                                  HGVS:
                                  NC_000019.10:g.34172678C>A, NC_000019.9:g.34663583C>A, NW_003315963.1:g.20419C>A, XM_005258719.6:c.36C>A, XM_005258719.5:c.36C>A, XM_005258719.4:c.36C>A, XM_005258719.3:c.36C>A, XM_005258719.2:c.36C>A, XM_005258719.1:c.36C>A, XM_005258720.6:c.36C>A, XM_005258720.5:c.36C>A, XM_005258720.4:c.36C>A, XM_005258720.3:c.36C>A, XM_005258720.2:c.36C>A, XM_005258720.1:c.36C>A, XM_005258721.6:c.36C>A, XM_005258721.5:c.36C>A, XM_005258721.4:c.36C>A, XM_005258721.3:c.36C>A, XM_005258721.2:c.36C>A, XM_005258721.1:c.36C>A, XM_011526708.4:c.36C>A, XM_011526708.3:c.36C>A, XM_011526708.2:c.36C>A, XM_011526708.1:c.36C>A, NM_015578.4:c.36C>A, NM_015578.3:c.36C>A, NM_015578.2:c.36C>A, NM_001114093.3:c.36C>A, NM_001114093.2:c.36C>A, NM_001114093.1:c.36C>A, NM_001384434.1:c.-995C>A, NM_001384433.1:c.-853C>A, NM_001384431.1:c.-404C>A, NR_169261.1:n.175C>A, NR_169264.1:n.175C>A, NM_001384432.1:c.-388C>A, NM_001384430.1:c.-257C>A, NR_169263.1:n.175C>A, NR_169266.1:n.175C>A, NR_169265.1:n.175C>A, NM_001384420.1:c.36C>A, NM_001384422.1:c.36C>A, NM_001384423.1:c.36C>A, NM_001384437.1:c.-340C>A, NM_001384426.1:c.36C>A, NM_001384428.1:c.36C>A, NM_001384425.1:c.36C>A, NM_001384424.1:c.36C>A, NM_001384429.1:c.36C>A, NM_001384435.1:c.36C>A, NR_169262.1:n.175C>A, NM_001384436.1:c.36C>A, NM_001384421.1:c.36C>A, NM_001384427.1:c.36C>A

                                  17.

                                  rs1433142671 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    19:34221793 (GRCh38)
                                    19:34712698 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:34221792:AAAA:AAA
                                    Gene:
                                    LSM14A (Varview)
                                    Functional Consequence:
                                    frameshift_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    AAA=0.000071/1 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1432320227 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:34219758 (GRCh38)
                                      19:34710663 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:34219757:C:T
                                      Gene:
                                      LSM14A (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.34219758C>T, NC_000019.9:g.34710663C>T, NW_003315963.1:g.67500C>T, XM_005258719.6:c.1017C>T, XM_005258719.5:c.1017C>T, XM_005258719.4:c.1017C>T, XM_005258719.3:c.1017C>T, XM_005258719.2:c.1017C>T, XM_005258719.1:c.1017C>T, XM_005258720.6:c.840C>T, XM_005258720.5:c.840C>T, XM_005258720.4:c.840C>T, XM_005258720.3:c.840C>T, XM_005258720.2:c.840C>T, XM_005258720.1:c.840C>T, XM_005258721.6:c.834C>T, XM_005258721.5:c.834C>T, XM_005258721.4:c.834C>T, XM_005258721.3:c.834C>T, XM_005258721.2:c.834C>T, XM_005258721.1:c.834C>T, XM_011526708.4:c.657C>T, XM_011526708.3:c.657C>T, XM_011526708.2:c.657C>T, XM_011526708.1:c.657C>T, NM_015578.4:c.1017C>T, NM_015578.3:c.1017C>T, NM_015578.2:c.1017C>T, NM_001114093.3:c.1017C>T, NM_001114093.2:c.1017C>T, NM_001114093.1:c.1017C>T, NM_001384434.1:c.696C>T, NM_001384433.1:c.696C>T, NM_001384431.1:c.696C>T, NR_169261.1:n.1240C>T, NR_169264.1:n.1222C>T, NM_001384432.1:c.696C>T, NM_001384430.1:c.735C>T, NR_169263.1:n.1152C>T, NR_169266.1:n.1156C>T, NR_169265.1:n.1152C>T, NM_001384420.1:c.1017C>T, NM_001384422.1:c.984C>T, NM_001384423.1:c.894C>T, NM_001384437.1:c.513C>T, NM_001384426.1:c.840C>T, NM_001384428.1:c.834C>T, NM_001384425.1:c.840C>T, NM_001384424.1:c.840C>T, NM_001384429.1:c.774C>T, NM_001384435.1:c.657C>T, NM_001384436.1:c.657C>T, NM_001384421.1:c.1011C>T, NM_001384427.1:c.834C>T

                                      19.

                                      rs1429810985 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:34221565 (GRCh38)
                                        19:34712470 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:34221564:C:T
                                        Gene:
                                        LSM14A (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.34221565C>T, NC_000019.9:g.34712470C>T, NW_003315963.1:g.69307C>T, XM_005258719.6:c.1195C>T, XM_005258719.5:c.1195C>T, XM_005258719.4:c.1195C>T, XM_005258719.3:c.1195C>T, XM_005258719.2:c.1195C>T, XM_005258719.1:c.1195C>T, XM_005258720.6:c.1018C>T, XM_005258720.5:c.1018C>T, XM_005258720.4:c.1018C>T, XM_005258720.3:c.1018C>T, XM_005258720.2:c.1018C>T, XM_005258720.1:c.1018C>T, XM_005258721.6:c.1012C>T, XM_005258721.5:c.1012C>T, XM_005258721.4:c.1012C>T, XM_005258721.3:c.1012C>T, XM_005258721.2:c.1012C>T, XM_005258721.1:c.1012C>T, XM_011526708.4:c.835C>T, XM_011526708.3:c.835C>T, XM_011526708.2:c.835C>T, XM_011526708.1:c.835C>T, NM_015578.4:c.1195C>T, NM_015578.3:c.1195C>T, NM_015578.2:c.1195C>T, NM_001114093.3:c.1195C>T, NM_001114093.2:c.1195C>T, NM_001114093.1:c.1195C>T, NM_001384434.1:c.874C>T, NM_001384433.1:c.874C>T, NM_001384431.1:c.874C>T, NR_169261.1:n.1418C>T, NR_169264.1:n.1400C>T, NM_001384432.1:c.874C>T, NM_001384430.1:c.913C>T, NR_169263.1:n.1330C>T, NR_169266.1:n.1354C>T, NR_169265.1:n.1330C>T, NM_001384420.1:c.1195C>T, NM_001384422.1:c.1162C>T, NM_001384423.1:c.1072C>T, NM_001384437.1:c.691C>T, NM_001384426.1:c.1018C>T, NM_001384428.1:c.1012C>T, NM_001384425.1:c.1018C>T, NM_001384424.1:c.1018C>T, NM_001384429.1:c.952C>T, NM_001384435.1:c.835C>T, NR_169262.1:n.979C>T, NM_001384436.1:c.835C>T, NM_001384421.1:c.1189C>T, NM_001384427.1:c.1012C>T, XP_005258776.1:p.Pro399Ser, XP_005258777.1:p.Pro340Ser, XP_005258778.1:p.Pro338Ser, XP_011525010.1:p.Pro279Ser, NP_056393.2:p.Pro399Ser, NP_001107565.1:p.Pro399Ser, NP_001371363.1:p.Pro292Ser, NP_001371362.1:p.Pro292Ser, NP_001371360.1:p.Pro292Ser, NP_001371361.1:p.Pro292Ser, NP_001371359.1:p.Pro305Ser, NP_001371349.1:p.Pro399Ser, NP_001371351.1:p.Pro388Ser, NP_001371352.1:p.Pro358Ser, NP_001371366.1:p.Pro231Ser, NP_001371355.1:p.Pro340Ser, NP_001371357.1:p.Pro338Ser, NP_001371354.1:p.Pro340Ser, NP_001371353.1:p.Pro340Ser, NP_001371358.1:p.Pro318Ser, NP_001371364.1:p.Pro279Ser, NP_001371365.1:p.Pro279Ser, NP_001371350.1:p.Pro397Ser, NP_001371356.1:p.Pro338Ser

                                        20.

                                        rs1427203545 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:34196670 (GRCh38)
                                          19:34687575 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:34196669:A:G
                                          Gene:
                                          LSM14A (Varview)
                                          Functional Consequence:
                                          initiator_codon_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.34196670A>G, NC_000019.9:g.34687575A>G, NW_003315963.1:g.44411A>G, XM_005258719.6:c.322A>G, XM_005258719.5:c.322A>G, XM_005258719.4:c.322A>G, XM_005258719.3:c.322A>G, XM_005258719.2:c.322A>G, XM_005258719.1:c.322A>G, XM_005258720.6:c.322A>G, XM_005258720.5:c.322A>G, XM_005258720.4:c.322A>G, XM_005258720.3:c.322A>G, XM_005258720.2:c.322A>G, XM_005258720.1:c.322A>G, XM_005258721.6:c.322A>G, XM_005258721.5:c.322A>G, XM_005258721.4:c.322A>G, XM_005258721.3:c.322A>G, XM_005258721.2:c.322A>G, XM_005258721.1:c.322A>G, XM_011526708.4:c.322A>G, XM_011526708.3:c.322A>G, XM_011526708.2:c.322A>G, XM_011526708.1:c.322A>G, NM_015578.4:c.322A>G, NM_015578.3:c.322A>G, NM_015578.2:c.322A>G, NM_001114093.3:c.322A>G, NM_001114093.2:c.322A>G, NM_001114093.1:c.322A>G, NM_001384434.1:c.1A>G, NM_001384433.1:c.1A>G, NM_001384431.1:c.1A>G, NR_169261.1:n.461A>G, NR_169264.1:n.461A>G, NM_001384432.1:c.1A>G, NM_001384430.1:c.40A>G, NR_169263.1:n.461A>G, NR_169266.1:n.461A>G, NR_169265.1:n.461A>G, NM_001384420.1:c.322A>G, NM_001384422.1:c.289A>G, NM_001384423.1:c.322A>G, NM_001384437.1:c.1A>G, NM_001384426.1:c.322A>G, NM_001384428.1:c.322A>G, NM_001384425.1:c.322A>G, NM_001384424.1:c.322A>G, NM_001384429.1:c.322A>G, NM_001384435.1:c.322A>G, NR_169262.1:n.461A>G, NM_001384436.1:c.322A>G, NM_001384421.1:c.322A>G, NM_001384427.1:c.322A>G, XP_005258776.1:p.Met108Val, XP_005258777.1:p.Met108Val, XP_005258778.1:p.Met108Val, XP_011525010.1:p.Met108Val, NP_056393.2:p.Met108Val, NP_001107565.1:p.Met108Val, NP_001371363.1:p.Met1Val, NP_001371362.1:p.Met1Val, NP_001371360.1:p.Met1Val, NP_001371361.1:p.Met1Val, NP_001371359.1:p.Met14Val, NP_001371349.1:p.Met108Val, NP_001371351.1:p.Met97Val, NP_001371352.1:p.Met108Val, NP_001371366.1:p.Met1Val, NP_001371355.1:p.Met108Val, NP_001371357.1:p.Met108Val, NP_001371354.1:p.Met108Val, NP_001371353.1:p.Met108Val, NP_001371358.1:p.Met108Val, NP_001371364.1:p.Met108Val, NP_001371365.1:p.Met108Val, NP_001371350.1:p.Met108Val, NP_001371356.1:p.Met108Val

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