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Items: 1 to 20 of 298

1.

rs1489244379 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    20:1980415 (GRCh38)
    20:1961061 (GRCh37)
    Canonical SPDI:
    NC_000020.11:1980414:G:A
    Gene:
    PDYN (Varview), PDYN-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000020.11:g.1980415G>A, NC_000020.10:g.1961061G>A, NG_028027.1:g.18831C>T, NM_024411.5:c.673C>T, NM_024411.4:c.673C>T, NM_001190898.3:c.673C>T, NM_001190898.2:c.673C>T, NM_001190899.2:c.673C>T, NM_001190892.1:c.673C>T, NM_001190900.1:c.673C>T, XM_011529249.3:c.673C>T, XM_011529249.2:c.673C>T, XM_011529249.1:c.673C>T, XM_011529246.3:c.673C>T, XM_011529246.2:c.673C>T, XM_011529246.1:c.673C>T, XM_011529250.3:c.673C>T, XM_011529250.2:c.673C>T, XM_011529250.1:c.673C>T, XM_011529248.2:c.673C>T, XM_011529248.1:c.673C>T, XM_011529244.2:c.673C>T, XM_011529244.1:c.673C>T, XM_011529245.1:c.673C>T, XM_017027878.1:c.673C>T, XM_011529247.1:c.673C>T, NP_077722.1:p.Arg225Cys, NP_001177827.1:p.Arg225Cys, NP_001177828.1:p.Arg225Cys, NP_001177821.1:p.Arg225Cys, NP_001177829.1:p.Arg225Cys, XP_011527551.1:p.Arg225Cys, XP_011527548.1:p.Arg225Cys, XP_011527552.1:p.Arg225Cys, XP_011527550.1:p.Arg225Cys, XP_011527546.1:p.Arg225Cys, XP_011527547.1:p.Arg225Cys, XP_016883367.1:p.Arg225Cys, XP_011527549.1:p.Arg225Cys

    2.

    rs1488884582 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:1980855 (GRCh38)
      20:1961501 (GRCh37)
      Canonical SPDI:
      NC_000020.11:1980854:T:C
      Gene:
      PDYN (Varview), PDYN-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.1980855T>C, NC_000020.10:g.1961501T>C, NG_028027.1:g.18391A>G, NM_024411.5:c.233A>G, NM_024411.4:c.233A>G, NM_001190898.3:c.233A>G, NM_001190898.2:c.233A>G, NM_001190899.2:c.233A>G, NM_001190892.1:c.233A>G, NM_001190900.1:c.233A>G, XM_011529249.3:c.233A>G, XM_011529249.2:c.233A>G, XM_011529249.1:c.233A>G, XM_011529246.3:c.233A>G, XM_011529246.2:c.233A>G, XM_011529246.1:c.233A>G, XM_011529250.3:c.233A>G, XM_011529250.2:c.233A>G, XM_011529250.1:c.233A>G, XM_011529248.2:c.233A>G, XM_011529248.1:c.233A>G, XM_011529244.2:c.233A>G, XM_011529244.1:c.233A>G, XM_011529245.1:c.233A>G, XM_017027878.1:c.233A>G, XM_011529247.1:c.233A>G, NP_077722.1:p.Asp78Gly, NP_001177827.1:p.Asp78Gly, NP_001177828.1:p.Asp78Gly, NP_001177821.1:p.Asp78Gly, NP_001177829.1:p.Asp78Gly, XP_011527551.1:p.Asp78Gly, XP_011527548.1:p.Asp78Gly, XP_011527552.1:p.Asp78Gly, XP_011527550.1:p.Asp78Gly, XP_011527546.1:p.Asp78Gly, XP_011527547.1:p.Asp78Gly, XP_016883367.1:p.Asp78Gly, XP_011527549.1:p.Asp78Gly

      3.

      rs1486022228 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:1980484 (GRCh38)
        20:1961130 (GRCh37)
        Canonical SPDI:
        NC_000020.11:1980483:C:T
        Gene:
        PDYN (Varview), PDYN-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        NC_000020.11:g.1980484C>T, NC_000020.10:g.1961130C>T, NG_028027.1:g.18762G>A, NM_024411.5:c.604G>A, NM_024411.4:c.604G>A, NM_001190898.3:c.604G>A, NM_001190898.2:c.604G>A, NM_001190899.2:c.604G>A, NM_001190892.1:c.604G>A, NM_001190900.1:c.604G>A, XM_011529249.3:c.604G>A, XM_011529249.2:c.604G>A, XM_011529249.1:c.604G>A, XM_011529246.3:c.604G>A, XM_011529246.2:c.604G>A, XM_011529246.1:c.604G>A, XM_011529250.3:c.604G>A, XM_011529250.2:c.604G>A, XM_011529250.1:c.604G>A, XM_011529248.2:c.604G>A, XM_011529248.1:c.604G>A, XM_011529244.2:c.604G>A, XM_011529244.1:c.604G>A, XM_011529245.1:c.604G>A, XM_017027878.1:c.604G>A, XM_011529247.1:c.604G>A, NP_077722.1:p.Asp202Asn, NP_001177827.1:p.Asp202Asn, NP_001177828.1:p.Asp202Asn, NP_001177821.1:p.Asp202Asn, NP_001177829.1:p.Asp202Asn, XP_011527551.1:p.Asp202Asn, XP_011527548.1:p.Asp202Asn, XP_011527552.1:p.Asp202Asn, XP_011527550.1:p.Asp202Asn, XP_011527546.1:p.Asp202Asn, XP_011527547.1:p.Asp202Asn, XP_016883367.1:p.Asp202Asn, XP_011527549.1:p.Asp202Asn

        4.

        rs1472967766 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:1980561 (GRCh38)
          20:1961207 (GRCh37)
          Canonical SPDI:
          NC_000020.11:1980560:C:T
          Gene:
          PDYN (Varview), PDYN-AS1 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.1980561C>T, NC_000020.10:g.1961207C>T, NG_028027.1:g.18685G>A, NM_024411.5:c.527G>A, NM_024411.4:c.527G>A, NM_001190898.3:c.527G>A, NM_001190898.2:c.527G>A, NM_001190899.2:c.527G>A, NM_001190892.1:c.527G>A, NM_001190900.1:c.527G>A, XM_011529249.3:c.527G>A, XM_011529249.2:c.527G>A, XM_011529249.1:c.527G>A, XM_011529246.3:c.527G>A, XM_011529246.2:c.527G>A, XM_011529246.1:c.527G>A, XM_011529250.3:c.527G>A, XM_011529250.2:c.527G>A, XM_011529250.1:c.527G>A, XM_011529248.2:c.527G>A, XM_011529248.1:c.527G>A, XM_011529244.2:c.527G>A, XM_011529244.1:c.527G>A, XM_011529245.1:c.527G>A, XM_017027878.1:c.527G>A, XM_011529247.1:c.527G>A, NP_077722.1:p.Gly176Glu, NP_001177827.1:p.Gly176Glu, NP_001177828.1:p.Gly176Glu, NP_001177821.1:p.Gly176Glu, NP_001177829.1:p.Gly176Glu, XP_011527551.1:p.Gly176Glu, XP_011527548.1:p.Gly176Glu, XP_011527552.1:p.Gly176Glu, XP_011527550.1:p.Gly176Glu, XP_011527546.1:p.Gly176Glu, XP_011527547.1:p.Gly176Glu, XP_016883367.1:p.Gly176Glu, XP_011527549.1:p.Gly176Glu

          5.

          rs1466881069 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            20:1983037 (GRCh38)
            20:1963683 (GRCh37)
            Canonical SPDI:
            NC_000020.11:1983036:G:A
            Gene:
            PDYN (Varview), PDYN-AS1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000031/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1466770527 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              20:1980720 (GRCh38)
              20:1961366 (GRCh37)
              Canonical SPDI:
              NC_000020.11:1980719:C:T
              Gene:
              PDYN (Varview), PDYN-AS1 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.1980720C>T, NC_000020.10:g.1961366C>T, NG_028027.1:g.18526G>A, NM_024411.5:c.368G>A, NM_024411.4:c.368G>A, NM_001190898.3:c.368G>A, NM_001190898.2:c.368G>A, NM_001190899.2:c.368G>A, NM_001190892.1:c.368G>A, NM_001190900.1:c.368G>A, XM_011529249.3:c.368G>A, XM_011529249.2:c.368G>A, XM_011529249.1:c.368G>A, XM_011529246.3:c.368G>A, XM_011529246.2:c.368G>A, XM_011529246.1:c.368G>A, XM_011529250.3:c.368G>A, XM_011529250.2:c.368G>A, XM_011529250.1:c.368G>A, XM_011529248.2:c.368G>A, XM_011529248.1:c.368G>A, XM_011529244.2:c.368G>A, XM_011529244.1:c.368G>A, XM_011529245.1:c.368G>A, XM_017027878.1:c.368G>A, XM_011529247.1:c.368G>A, NP_077722.1:p.Ser123Asn, NP_001177827.1:p.Ser123Asn, NP_001177828.1:p.Ser123Asn, NP_001177821.1:p.Ser123Asn, NP_001177829.1:p.Ser123Asn, XP_011527551.1:p.Ser123Asn, XP_011527548.1:p.Ser123Asn, XP_011527552.1:p.Ser123Asn, XP_011527550.1:p.Ser123Asn, XP_011527546.1:p.Ser123Asn, XP_011527547.1:p.Ser123Asn, XP_016883367.1:p.Ser123Asn, XP_011527549.1:p.Ser123Asn

              7.

              rs1458597162 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:1980386 (GRCh38)
                20:1961032 (GRCh37)
                Canonical SPDI:
                NC_000020.11:1980385:G:A
                Gene:
                PDYN (Varview), PDYN-AS1 (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:

                8.

                rs1450123890 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:1980521 (GRCh38)
                  20:1961167 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:1980520:C:T
                  Gene:
                  PDYN (Varview), PDYN-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1443097083 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:1980578 (GRCh38)
                    20:1961224 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:1980577:C:T
                    Gene:
                    PDYN (Varview), PDYN-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1441059895 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:1980358 (GRCh38)
                      20:1961004 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:1980357:G:A
                      Gene:
                      PDYN (Varview), PDYN-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000020.11:g.1980358G>A, NC_000020.10:g.1961004G>A, NG_028027.1:g.18888C>T, NM_024411.5:c.730C>T, NM_024411.4:c.730C>T, NM_001190898.3:c.730C>T, NM_001190898.2:c.730C>T, NM_001190899.2:c.730C>T, NM_001190892.1:c.730C>T, NM_001190900.1:c.730C>T, XM_011529249.3:c.730C>T, XM_011529249.2:c.730C>T, XM_011529249.1:c.730C>T, XM_011529246.3:c.730C>T, XM_011529246.2:c.730C>T, XM_011529246.1:c.730C>T, XM_011529250.3:c.730C>T, XM_011529250.2:c.730C>T, XM_011529250.1:c.730C>T, XM_011529248.2:c.730C>T, XM_011529248.1:c.730C>T, XM_011529244.2:c.730C>T, XM_011529244.1:c.730C>T, XM_011529245.1:c.730C>T, XM_017027878.1:c.730C>T, XM_011529247.1:c.730C>T, NP_077722.1:p.Pro244Ser, NP_001177827.1:p.Pro244Ser, NP_001177828.1:p.Pro244Ser, NP_001177821.1:p.Pro244Ser, NP_001177829.1:p.Pro244Ser, XP_011527551.1:p.Pro244Ser, XP_011527548.1:p.Pro244Ser, XP_011527552.1:p.Pro244Ser, XP_011527550.1:p.Pro244Ser, XP_011527546.1:p.Pro244Ser, XP_011527547.1:p.Pro244Ser, XP_016883367.1:p.Pro244Ser, XP_011527549.1:p.Pro244Ser

                      11.

                      rs1430436485 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        20:1980694 (GRCh38)
                        20:1961340 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:1980693:C:A,NC_000020.11:1980693:C:T
                        Gene:
                        PDYN (Varview), PDYN-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000020.11:g.1980694C>A, NC_000020.11:g.1980694C>T, NC_000020.10:g.1961340C>A, NC_000020.10:g.1961340C>T, NG_028027.1:g.18552G>T, NG_028027.1:g.18552G>A, NM_024411.5:c.394G>T, NM_024411.5:c.394G>A, NM_024411.4:c.394G>T, NM_024411.4:c.394G>A, NM_001190898.3:c.394G>T, NM_001190898.3:c.394G>A, NM_001190898.2:c.394G>T, NM_001190898.2:c.394G>A, NM_001190899.2:c.394G>T, NM_001190899.2:c.394G>A, NM_001190892.1:c.394G>T, NM_001190892.1:c.394G>A, NM_001190900.1:c.394G>T, NM_001190900.1:c.394G>A, XM_011529249.3:c.394G>T, XM_011529249.3:c.394G>A, XM_011529249.2:c.394G>T, XM_011529249.2:c.394G>A, XM_011529249.1:c.394G>T, XM_011529249.1:c.394G>A, XM_011529246.3:c.394G>T, XM_011529246.3:c.394G>A, XM_011529246.2:c.394G>T, XM_011529246.2:c.394G>A, XM_011529246.1:c.394G>T, XM_011529246.1:c.394G>A, XM_011529250.3:c.394G>T, XM_011529250.3:c.394G>A, XM_011529250.2:c.394G>T, XM_011529250.2:c.394G>A, XM_011529250.1:c.394G>T, XM_011529250.1:c.394G>A, XM_011529248.2:c.394G>T, XM_011529248.2:c.394G>A, XM_011529248.1:c.394G>T, XM_011529248.1:c.394G>A, XM_011529244.2:c.394G>T, XM_011529244.2:c.394G>A, XM_011529244.1:c.394G>T, XM_011529244.1:c.394G>A, XM_011529245.1:c.394G>T, XM_011529245.1:c.394G>A, XM_017027878.1:c.394G>T, XM_017027878.1:c.394G>A, XM_011529247.1:c.394G>T, XM_011529247.1:c.394G>A, NP_077722.1:p.Gly132Cys, NP_077722.1:p.Gly132Ser, NP_001177827.1:p.Gly132Cys, NP_001177827.1:p.Gly132Ser, NP_001177828.1:p.Gly132Cys, NP_001177828.1:p.Gly132Ser, NP_001177821.1:p.Gly132Cys, NP_001177821.1:p.Gly132Ser, NP_001177829.1:p.Gly132Cys, NP_001177829.1:p.Gly132Ser, XP_011527551.1:p.Gly132Cys, XP_011527551.1:p.Gly132Ser, XP_011527548.1:p.Gly132Cys, XP_011527548.1:p.Gly132Ser, XP_011527552.1:p.Gly132Cys, XP_011527552.1:p.Gly132Ser, XP_011527550.1:p.Gly132Cys, XP_011527550.1:p.Gly132Ser, XP_011527546.1:p.Gly132Cys, XP_011527546.1:p.Gly132Ser, XP_011527547.1:p.Gly132Cys, XP_011527547.1:p.Gly132Ser, XP_016883367.1:p.Gly132Cys, XP_016883367.1:p.Gly132Ser, XP_011527549.1:p.Gly132Cys, XP_011527549.1:p.Gly132Ser

                        12.

                        rs1430160645 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          20:1980462 (GRCh38)
                          20:1961108 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:1980461:CCCCC:CCCC
                          Gene:
                          PDYN (Varview), PDYN-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CCCC=0./0 (ALFA)
                          -=0.000004/1 (GnomAD_exomes)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000020.11:g.1980466del, NC_000020.10:g.1961112del, NG_028027.1:g.18784del, NM_024411.5:c.626del, NM_024411.4:c.626del, NM_001190898.3:c.626del, NM_001190898.2:c.626del, NM_001190899.2:c.626del, NM_001190892.1:c.626del, NM_001190900.1:c.626del, XM_011529249.3:c.626del, XM_011529249.2:c.626del, XM_011529249.1:c.626del, XM_011529246.3:c.626del, XM_011529246.2:c.626del, XM_011529246.1:c.626del, XM_011529250.3:c.626del, XM_011529250.2:c.626del, XM_011529250.1:c.626del, XM_011529248.2:c.626del, XM_011529248.1:c.626del, XM_011529244.2:c.626del, XM_011529244.1:c.626del, XM_011529245.1:c.626del, XM_017027878.1:c.626del, XM_011529247.1:c.626del, NP_077722.1:p.Gly209fs, NP_001177827.1:p.Gly209fs, NP_001177828.1:p.Gly209fs, NP_001177821.1:p.Gly209fs, NP_001177829.1:p.Gly209fs, XP_011527551.1:p.Gly209fs, XP_011527548.1:p.Gly209fs, XP_011527552.1:p.Gly209fs, XP_011527550.1:p.Gly209fs, XP_011527546.1:p.Gly209fs, XP_011527547.1:p.Gly209fs, XP_016883367.1:p.Gly209fs, XP_011527549.1:p.Gly209fs

                          13.

                          rs1423090274 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            20:1980664 (GRCh38)
                            20:1961310 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:1980663:C:G
                            Gene:
                            PDYN (Varview), PDYN-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000020.11:g.1980664C>G, NC_000020.10:g.1961310C>G, NG_028027.1:g.18582G>C, NM_024411.5:c.424G>C, NM_024411.4:c.424G>C, NM_001190898.3:c.424G>C, NM_001190898.2:c.424G>C, NM_001190899.2:c.424G>C, NM_001190892.1:c.424G>C, NM_001190900.1:c.424G>C, XM_011529249.3:c.424G>C, XM_011529249.2:c.424G>C, XM_011529249.1:c.424G>C, XM_011529246.3:c.424G>C, XM_011529246.2:c.424G>C, XM_011529246.1:c.424G>C, XM_011529250.3:c.424G>C, XM_011529250.2:c.424G>C, XM_011529250.1:c.424G>C, XM_011529248.2:c.424G>C, XM_011529248.1:c.424G>C, XM_011529244.2:c.424G>C, XM_011529244.1:c.424G>C, XM_011529245.1:c.424G>C, XM_017027878.1:c.424G>C, XM_011529247.1:c.424G>C, NP_077722.1:p.Glu142Gln, NP_001177827.1:p.Glu142Gln, NP_001177828.1:p.Glu142Gln, NP_001177821.1:p.Glu142Gln, NP_001177829.1:p.Glu142Gln, XP_011527551.1:p.Glu142Gln, XP_011527548.1:p.Glu142Gln, XP_011527552.1:p.Glu142Gln, XP_011527550.1:p.Glu142Gln, XP_011527546.1:p.Glu142Gln, XP_011527547.1:p.Glu142Gln, XP_016883367.1:p.Glu142Gln, XP_011527549.1:p.Glu142Gln

                            14.

                            rs1420860612 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              20:1980398 (GRCh38)
                              20:1961044 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:1980397:G:T
                              Gene:
                              PDYN (Varview), PDYN-AS1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1417636089 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:1980887 (GRCh38)
                                20:1961533 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:1980886:A:G
                                Gene:
                                PDYN (Varview), PDYN-AS1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1416537218 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  20:1980958 (GRCh38)
                                  20:1961604 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:1980957:T:G
                                  Gene:
                                  PDYN (Varview), PDYN-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.1980958T>G, NC_000020.10:g.1961604T>G, NG_028027.1:g.18288A>C, NM_024411.5:c.130A>C, NM_024411.4:c.130A>C, NM_001190898.3:c.130A>C, NM_001190898.2:c.130A>C, NM_001190899.2:c.130A>C, NM_001190892.1:c.130A>C, NM_001190900.1:c.130A>C, XM_011529249.3:c.130A>C, XM_011529249.2:c.130A>C, XM_011529249.1:c.130A>C, XM_011529246.3:c.130A>C, XM_011529246.2:c.130A>C, XM_011529246.1:c.130A>C, XM_011529250.3:c.130A>C, XM_011529250.2:c.130A>C, XM_011529250.1:c.130A>C, XM_011529248.2:c.130A>C, XM_011529248.1:c.130A>C, XM_011529244.2:c.130A>C, XM_011529244.1:c.130A>C, XM_011529245.1:c.130A>C, XM_017027878.1:c.130A>C, XM_011529247.1:c.130A>C, NP_077722.1:p.Ile44Leu, NP_001177827.1:p.Ile44Leu, NP_001177828.1:p.Ile44Leu, NP_001177821.1:p.Ile44Leu, NP_001177829.1:p.Ile44Leu, XP_011527551.1:p.Ile44Leu, XP_011527548.1:p.Ile44Leu, XP_011527552.1:p.Ile44Leu, XP_011527550.1:p.Ile44Leu, XP_011527546.1:p.Ile44Leu, XP_011527547.1:p.Ile44Leu, XP_016883367.1:p.Ile44Leu, XP_011527549.1:p.Ile44Leu

                                  17.

                                  rs1415164952 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    20:1980423 (GRCh38)
                                    20:1961069 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:1980422:TT:T
                                    Gene:
                                    PDYN (Varview), PDYN-AS1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant,intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000020.11:g.1980424del, NC_000020.10:g.1961070del, NG_028027.1:g.18823del, NM_024411.5:c.665del, NM_024411.4:c.665del, NM_001190898.3:c.665del, NM_001190898.2:c.665del, NM_001190899.2:c.665del, NM_001190892.1:c.665del, NM_001190900.1:c.665del, XM_011529249.3:c.665del, XM_011529249.2:c.665del, XM_011529249.1:c.665del, XM_011529246.3:c.665del, XM_011529246.2:c.665del, XM_011529246.1:c.665del, XM_011529250.3:c.665del, XM_011529250.2:c.665del, XM_011529250.1:c.665del, XM_011529248.2:c.665del, XM_011529248.1:c.665del, XM_011529244.2:c.665del, XM_011529244.1:c.665del, XM_011529245.1:c.665del, XM_017027878.1:c.665del, XM_011529247.1:c.665del, NP_077722.1:p.Asn222fs, NP_001177827.1:p.Asn222fs, NP_001177828.1:p.Asn222fs, NP_001177821.1:p.Asn222fs, NP_001177829.1:p.Asn222fs, XP_011527551.1:p.Asn222fs, XP_011527548.1:p.Asn222fs, XP_011527552.1:p.Asn222fs, XP_011527550.1:p.Asn222fs, XP_011527546.1:p.Asn222fs, XP_011527547.1:p.Asn222fs, XP_016883367.1:p.Asn222fs, XP_011527549.1:p.Asn222fs

                                    18.

                                    rs1412226816 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AG>- [Show Flanks]
                                      Chromosome:
                                      20:1980374 (GRCh38)
                                      20:1961020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:1980372:GAG:G
                                      Gene:
                                      PDYN (Varview), PDYN-AS1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      -=0.000004/1 (GnomAD_exomes)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000020.11:g.1980374_1980375del, NC_000020.10:g.1961020_1961021del, NG_028027.1:g.18872_18873del, NM_024411.5:c.714_715del, NM_024411.4:c.714_715del, NM_001190898.3:c.714_715del, NM_001190898.2:c.714_715del, NM_001190899.2:c.714_715del, NM_001190892.1:c.714_715del, NM_001190900.1:c.714_715del, XM_011529249.3:c.714_715del, XM_011529249.2:c.714_715del, XM_011529249.1:c.714_715del, XM_011529246.3:c.714_715del, XM_011529246.2:c.714_715del, XM_011529246.1:c.714_715del, XM_011529250.3:c.714_715del, XM_011529250.2:c.714_715del, XM_011529250.1:c.714_715del, XM_011529248.2:c.714_715del, XM_011529248.1:c.714_715del, XM_011529244.2:c.714_715del, XM_011529244.1:c.714_715del, XM_011529245.1:c.714_715del, XM_017027878.1:c.714_715del, XM_011529247.1:c.714_715del, NP_077722.1:p.Arg239fs, NP_001177827.1:p.Arg239fs, NP_001177828.1:p.Arg239fs, NP_001177821.1:p.Arg239fs, NP_001177829.1:p.Arg239fs, XP_011527551.1:p.Arg239fs, XP_011527548.1:p.Arg239fs, XP_011527552.1:p.Arg239fs, XP_011527550.1:p.Arg239fs, XP_011527546.1:p.Arg239fs, XP_011527547.1:p.Arg239fs, XP_016883367.1:p.Arg239fs, XP_011527549.1:p.Arg239fs

                                      19.

                                      rs1401791876 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        20:1980420 (GRCh38)
                                        20:1961066 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:1980419:T:G
                                        Gene:
                                        PDYN (Varview), PDYN-AS1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000020.11:g.1980420T>G, NC_000020.10:g.1961066T>G, NG_028027.1:g.18826A>C, NM_024411.5:c.668A>C, NM_024411.4:c.668A>C, NM_001190898.3:c.668A>C, NM_001190898.2:c.668A>C, NM_001190899.2:c.668A>C, NM_001190892.1:c.668A>C, NM_001190900.1:c.668A>C, XM_011529249.3:c.668A>C, XM_011529249.2:c.668A>C, XM_011529249.1:c.668A>C, XM_011529246.3:c.668A>C, XM_011529246.2:c.668A>C, XM_011529246.1:c.668A>C, XM_011529250.3:c.668A>C, XM_011529250.2:c.668A>C, XM_011529250.1:c.668A>C, XM_011529248.2:c.668A>C, XM_011529248.1:c.668A>C, XM_011529244.2:c.668A>C, XM_011529244.1:c.668A>C, XM_011529245.1:c.668A>C, XM_017027878.1:c.668A>C, XM_011529247.1:c.668A>C, NP_077722.1:p.Gln223Pro, NP_001177827.1:p.Gln223Pro, NP_001177828.1:p.Gln223Pro, NP_001177821.1:p.Gln223Pro, NP_001177829.1:p.Gln223Pro, XP_011527551.1:p.Gln223Pro, XP_011527548.1:p.Gln223Pro, XP_011527552.1:p.Gln223Pro, XP_011527550.1:p.Gln223Pro, XP_011527546.1:p.Gln223Pro, XP_011527547.1:p.Gln223Pro, XP_016883367.1:p.Gln223Pro, XP_011527549.1:p.Gln223Pro

                                        20.

                                        rs1401075868 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          20:1980577 (GRCh38)
                                          20:1961223 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:1980576:G:A
                                          Gene:
                                          PDYN (Varview), PDYN-AS1 (Varview)
                                          Functional Consequence:
                                          stop_gained,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000020.11:g.1980577G>A, NC_000020.10:g.1961223G>A, NG_028027.1:g.18669C>T, NM_024411.5:c.511C>T, NM_024411.4:c.511C>T, NM_001190898.3:c.511C>T, NM_001190898.2:c.511C>T, NM_001190899.2:c.511C>T, NM_001190892.1:c.511C>T, NM_001190900.1:c.511C>T, XM_011529249.3:c.511C>T, XM_011529249.2:c.511C>T, XM_011529249.1:c.511C>T, XM_011529246.3:c.511C>T, XM_011529246.2:c.511C>T, XM_011529246.1:c.511C>T, XM_011529250.3:c.511C>T, XM_011529250.2:c.511C>T, XM_011529250.1:c.511C>T, XM_011529248.2:c.511C>T, XM_011529248.1:c.511C>T, XM_011529244.2:c.511C>T, XM_011529244.1:c.511C>T, XM_011529245.1:c.511C>T, XM_017027878.1:c.511C>T, XM_011529247.1:c.511C>T, NP_077722.1:p.Gln171Ter, NP_001177827.1:p.Gln171Ter, NP_001177828.1:p.Gln171Ter, NP_001177821.1:p.Gln171Ter, NP_001177829.1:p.Gln171Ter, XP_011527551.1:p.Gln171Ter, XP_011527548.1:p.Gln171Ter, XP_011527552.1:p.Gln171Ter, XP_011527550.1:p.Gln171Ter, XP_011527546.1:p.Gln171Ter, XP_011527547.1:p.Gln171Ter, XP_016883367.1:p.Gln171Ter, XP_011527549.1:p.Gln171Ter

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