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Items: 1 to 20 of 910

1.

rs1489172969 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:34360089 (GRCh38)
    10:34649017 (GRCh37)
    Canonical SPDI:
    NC_000010.11:34360088:A:G
    Gene:
    PARD3 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1489144791 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      10:34360153 (GRCh38)
      10:34649081 (GRCh37)
      Canonical SPDI:
      NC_000010.11:34360152:A:G
      Gene:
      PARD3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000008/2 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000010.11:g.34360153A>G, NC_000010.10:g.34649081A>G, NG_052602.2:g.460143T>C, NG_052602.1:g.460173T>C, NM_019619.4:c.1814T>C, NM_019619.3:c.1814T>C, NM_001184785.2:c.1814T>C, NM_001184785.1:c.1814T>C, NM_001184786.2:c.1775T>C, NM_001184786.1:c.1775T>C, NM_001184787.2:c.1814T>C, NM_001184787.1:c.1814T>C, NM_001184788.2:c.1775T>C, NM_001184788.1:c.1775T>C, NM_001184792.2:c.1814T>C, NM_001184792.1:c.1814T>C, NM_001184790.2:c.1643T>C, NM_001184790.1:c.1643T>C, NM_001184791.2:c.1643T>C, NM_001184791.1:c.1643T>C, NM_001184793.2:c.1814T>C, NM_001184793.1:c.1814T>C, NM_001184789.2:c.1775T>C, NM_001184789.1:c.1775T>C, NM_001184794.2:c.1775T>C, NM_001184794.1:c.1775T>C, NP_062565.2:p.Val605Ala, NP_001171714.1:p.Val605Ala, NP_001171715.1:p.Val592Ala, NP_001171716.1:p.Val605Ala, NP_001171717.1:p.Val592Ala, NP_001171721.1:p.Val605Ala, NP_001171719.1:p.Val548Ala, NP_001171720.1:p.Val548Ala, NP_001171722.1:p.Val605Ala, NP_001171718.1:p.Val592Ala, NP_001171723.1:p.Val592Ala

      3.

      rs1489022737 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        10:34359207 (GRCh38)
        10:34648135 (GRCh37)
        Canonical SPDI:
        NC_000010.11:34359206:T:C,NC_000010.11:34359206:T:G
        Gene:
        PARD3 (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000010.11:g.34359207T>C, NC_000010.11:g.34359207T>G, NC_000010.10:g.34648135T>C, NC_000010.10:g.34648135T>G, NG_052602.2:g.461089A>G, NG_052602.2:g.461089A>C, NG_052602.1:g.461119A>G, NG_052602.1:g.461119A>C, NM_019619.4:c.2007A>G, NM_019619.4:c.2007A>C, NM_019619.3:c.2007A>G, NM_019619.3:c.2007A>C, NM_001184785.2:c.2007A>G, NM_001184785.2:c.2007A>C, NM_001184785.1:c.2007A>G, NM_001184785.1:c.2007A>C, NM_001184786.2:c.1968A>G, NM_001184786.2:c.1968A>C, NM_001184786.1:c.1968A>G, NM_001184786.1:c.1968A>C, NM_001184787.2:c.2007A>G, NM_001184787.2:c.2007A>C, NM_001184787.1:c.2007A>G, NM_001184787.1:c.2007A>C, NM_001184788.2:c.1968A>G, NM_001184788.2:c.1968A>C, NM_001184788.1:c.1968A>G, NM_001184788.1:c.1968A>C, NM_001184792.2:c.2007A>G, NM_001184792.2:c.2007A>C, NM_001184792.1:c.2007A>G, NM_001184792.1:c.2007A>C, NM_001184790.2:c.1836A>G, NM_001184790.2:c.1836A>C, NM_001184790.1:c.1836A>G, NM_001184790.1:c.1836A>C, NM_001184791.2:c.1836A>G, NM_001184791.2:c.1836A>C, NM_001184791.1:c.1836A>G, NM_001184791.1:c.1836A>C, NM_001184793.2:c.2007A>G, NM_001184793.2:c.2007A>C, NM_001184793.1:c.2007A>G, NM_001184793.1:c.2007A>C, NM_001184789.2:c.1968A>G, NM_001184789.2:c.1968A>C, NM_001184789.1:c.1968A>G, NM_001184789.1:c.1968A>C, NM_001184794.2:c.1968A>G, NM_001184794.2:c.1968A>C, NM_001184794.1:c.1968A>G, NM_001184794.1:c.1968A>C, NP_062565.2:p.Glu669Asp, NP_001171714.1:p.Glu669Asp, NP_001171715.1:p.Glu656Asp, NP_001171716.1:p.Glu669Asp, NP_001171717.1:p.Glu656Asp, NP_001171721.1:p.Glu669Asp, NP_001171719.1:p.Glu612Asp, NP_001171720.1:p.Glu612Asp, NP_001171722.1:p.Glu669Asp, NP_001171718.1:p.Glu656Asp, NP_001171723.1:p.Glu656Asp

        4.

        rs1488482705 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:34399395 (GRCh38)
          10:34688323 (GRCh37)
          Canonical SPDI:
          NC_000010.11:34399394:T:C
          Gene:
          PARD3 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:

          5.

          rs1486849058 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:34382735 (GRCh38)
            10:34671663 (GRCh37)
            Canonical SPDI:
            NC_000010.11:34382734:C:T
            Gene:
            PARD3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000031/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000010.11:g.34382735C>T, NC_000010.10:g.34671663C>T, NG_052602.2:g.437561G>A, NG_052602.1:g.437591G>A, NM_019619.4:c.1204G>A, NM_019619.3:c.1204G>A, NM_001184785.2:c.1204G>A, NM_001184785.1:c.1204G>A, NM_001184786.2:c.1204G>A, NM_001184786.1:c.1204G>A, NM_001184787.2:c.1204G>A, NM_001184787.1:c.1204G>A, NM_001184788.2:c.1204G>A, NM_001184788.1:c.1204G>A, NM_001184792.2:c.1204G>A, NM_001184792.1:c.1204G>A, NM_001184789.2:c.1204G>A, NM_001184789.1:c.1204G>A, NM_001184790.2:c.1072G>A, NM_001184790.1:c.1072G>A, NM_001184791.2:c.1072G>A, NM_001184791.1:c.1072G>A, NM_001184793.2:c.1204G>A, NM_001184793.1:c.1204G>A, NM_001184794.2:c.1204G>A, NM_001184794.1:c.1204G>A, NP_062565.2:p.Val402Met, NP_001171714.1:p.Val402Met, NP_001171715.1:p.Val402Met, NP_001171716.1:p.Val402Met, NP_001171717.1:p.Val402Met, NP_001171721.1:p.Val402Met, NP_001171718.1:p.Val402Met, NP_001171719.1:p.Val358Met, NP_001171720.1:p.Val358Met, NP_001171722.1:p.Val402Met, NP_001171723.1:p.Val402Met

            6.

            rs1485247417 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              10:34331145 (GRCh38)
              10:34620073 (GRCh37)
              Canonical SPDI:
              NC_000010.11:34331144:T:C
              Gene:
              PARD3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              HGVS:

              7.

              rs1484598500 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                10:34382573 (GRCh38)
                10:34671501 (GRCh37)
                Canonical SPDI:
                NC_000010.11:34382572:TTTTTTT:TTTTTT
                Gene:
                PARD3 (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained
                HGVS:
                NC_000010.11:g.34382579del, NC_000010.10:g.34671507del, NG_052602.2:g.437723del, NG_052602.1:g.437753del, NM_019619.4:c.1366del, NM_019619.3:c.1366del, NM_001184785.2:c.1366del, NM_001184785.1:c.1366del, NM_001184786.2:c.1366del, NM_001184786.1:c.1366del, NM_001184787.2:c.1366del, NM_001184787.1:c.1366del, NM_001184788.2:c.1366del, NM_001184788.1:c.1366del, NM_001184792.2:c.1366del, NM_001184792.1:c.1366del, NM_001184789.2:c.1366del, NM_001184789.1:c.1366del, NM_001184790.2:c.1234del, NM_001184790.1:c.1234del, NM_001184791.2:c.1234del, NM_001184791.1:c.1234del, NM_001184793.2:c.1366del, NM_001184793.1:c.1366del, NM_001184794.2:c.1366del, NM_001184794.1:c.1366del, NP_062565.2:p.Lys455_Ile456insTer, NP_001171714.1:p.Lys455_Ile456insTer, NP_001171715.1:p.Lys455_Ile456insTer, NP_001171716.1:p.Lys455_Ile456insTer, NP_001171717.1:p.Lys455_Ile456insTer, NP_001171721.1:p.Lys455_Ile456insTer, NP_001171718.1:p.Lys455_Ile456insTer, NP_001171719.1:p.Lys411_Ile412insTer, NP_001171720.1:p.Lys411_Ile412insTer, NP_001171722.1:p.Lys455_Ile456insTer, NP_001171723.1:p.Lys455_Ile456insTer

                8.

                rs1483489484 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:34517018 (GRCh38)
                  10:34805946 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:34517017:T:C
                  Gene:
                  PARD3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000047/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.34517018T>C, NC_000010.10:g.34805946T>C, NG_052602.2:g.303278A>G, NG_052602.1:g.303308A>G, NM_019619.4:c.364A>G, NM_019619.3:c.364A>G, NM_001184785.2:c.364A>G, NM_001184785.1:c.364A>G, NM_001184786.2:c.364A>G, NM_001184786.1:c.364A>G, NM_001184787.2:c.364A>G, NM_001184787.1:c.364A>G, NM_001184788.2:c.364A>G, NM_001184788.1:c.364A>G, NM_001184792.2:c.364A>G, NM_001184792.1:c.364A>G, NM_001184790.2:c.364A>G, NM_001184790.1:c.364A>G, NM_001184791.2:c.364A>G, NM_001184791.1:c.364A>G, NM_001184793.2:c.364A>G, NM_001184793.1:c.364A>G, NM_001184789.2:c.364A>G, NM_001184789.1:c.364A>G, NM_001184794.2:c.364A>G, NM_001184794.1:c.364A>G, NP_062565.2:p.Thr122Ala, NP_001171714.1:p.Thr122Ala, NP_001171715.1:p.Thr122Ala, NP_001171716.1:p.Thr122Ala, NP_001171717.1:p.Thr122Ala, NP_001171721.1:p.Thr122Ala, NP_001171719.1:p.Thr122Ala, NP_001171720.1:p.Thr122Ala, NP_001171722.1:p.Thr122Ala, NP_001171718.1:p.Thr122Ala, NP_001171723.1:p.Thr122Ala

                  9.

                  rs1481839074 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:34341762 (GRCh38)
                    10:34630690 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:34341761:A:G
                    Gene:
                    PARD3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.34341762A>G, NC_000010.10:g.34630690A>G, NG_052602.2:g.478534T>C, NG_052602.1:g.478564T>C, NM_019619.4:c.2282T>C, NM_019619.3:c.2282T>C, NM_001184785.2:c.2273T>C, NM_001184785.1:c.2273T>C, NM_001184786.2:c.2234T>C, NM_001184786.1:c.2234T>C, NM_001184787.2:c.2282T>C, NM_001184787.1:c.2282T>C, NM_001184788.2:c.2234T>C, NM_001184788.1:c.2234T>C, NM_001184792.2:c.2273T>C, NM_001184792.1:c.2273T>C, NM_001184789.2:c.2234T>C, NM_001184789.1:c.2234T>C, NM_001184790.2:c.2102T>C, NM_001184790.1:c.2102T>C, NM_001184791.2:c.2102T>C, NM_001184791.1:c.2102T>C, NM_001184793.2:c.2273T>C, NM_001184793.1:c.2273T>C, NM_001184794.2:c.2234T>C, NM_001184794.1:c.2234T>C, NP_062565.2:p.Ile761Thr, NP_001171714.1:p.Ile758Thr, NP_001171715.1:p.Ile745Thr, NP_001171716.1:p.Ile761Thr, NP_001171717.1:p.Ile745Thr, NP_001171721.1:p.Ile758Thr, NP_001171718.1:p.Ile745Thr, NP_001171719.1:p.Ile701Thr, NP_001171720.1:p.Ile701Thr, NP_001171722.1:p.Ile758Thr, NP_001171723.1:p.Ile745Thr

                    10.

                    rs1480275916 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      10:34384204 (GRCh38)
                      10:34673132 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:34384203:T:C,NC_000010.11:34384203:T:G
                      Gene:
                      PARD3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000010.11:g.34384204T>C, NC_000010.11:g.34384204T>G, NC_000010.10:g.34673132T>C, NC_000010.10:g.34673132T>G, NG_052602.2:g.436092A>G, NG_052602.2:g.436092A>C, NG_052602.1:g.436122A>G, NG_052602.1:g.436122A>C, NM_019619.4:c.941A>G, NM_019619.4:c.941A>C, NM_019619.3:c.941A>G, NM_019619.3:c.941A>C, NM_001184785.2:c.941A>G, NM_001184785.2:c.941A>C, NM_001184785.1:c.941A>G, NM_001184785.1:c.941A>C, NM_001184786.2:c.941A>G, NM_001184786.2:c.941A>C, NM_001184786.1:c.941A>G, NM_001184786.1:c.941A>C, NM_001184787.2:c.941A>G, NM_001184787.2:c.941A>C, NM_001184787.1:c.941A>G, NM_001184787.1:c.941A>C, NM_001184788.2:c.941A>G, NM_001184788.2:c.941A>C, NM_001184788.1:c.941A>G, NM_001184788.1:c.941A>C, NM_001184792.2:c.941A>G, NM_001184792.2:c.941A>C, NM_001184792.1:c.941A>G, NM_001184792.1:c.941A>C, NM_001184790.2:c.809A>G, NM_001184790.2:c.809A>C, NM_001184790.1:c.809A>G, NM_001184790.1:c.809A>C, NM_001184791.2:c.809A>G, NM_001184791.2:c.809A>C, NM_001184791.1:c.809A>G, NM_001184791.1:c.809A>C, NM_001184793.2:c.941A>G, NM_001184793.2:c.941A>C, NM_001184793.1:c.941A>G, NM_001184793.1:c.941A>C, NM_001184789.2:c.941A>G, NM_001184789.2:c.941A>C, NM_001184789.1:c.941A>G, NM_001184789.1:c.941A>C, NM_001184794.2:c.941A>G, NM_001184794.2:c.941A>C, NM_001184794.1:c.941A>G, NM_001184794.1:c.941A>C, NP_062565.2:p.His314Arg, NP_062565.2:p.His314Pro, NP_001171714.1:p.His314Arg, NP_001171714.1:p.His314Pro, NP_001171715.1:p.His314Arg, NP_001171715.1:p.His314Pro, NP_001171716.1:p.His314Arg, NP_001171716.1:p.His314Pro, NP_001171717.1:p.His314Arg, NP_001171717.1:p.His314Pro, NP_001171721.1:p.His314Arg, NP_001171721.1:p.His314Pro, NP_001171719.1:p.His270Arg, NP_001171719.1:p.His270Pro, NP_001171720.1:p.His270Arg, NP_001171720.1:p.His270Pro, NP_001171722.1:p.His314Arg, NP_001171722.1:p.His314Pro, NP_001171718.1:p.His314Arg, NP_001171718.1:p.His314Pro, NP_001171723.1:p.His314Arg, NP_001171723.1:p.His314Pro

                      11.

                      rs1479612015 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:34360078 (GRCh38)
                        10:34649006 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:34360077:G:A
                        Gene:
                        PARD3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000010.11:g.34360078G>A, NC_000010.10:g.34649006G>A, NG_052602.2:g.460218C>T, NG_052602.1:g.460248C>T, NM_019619.4:c.1889C>T, NM_019619.3:c.1889C>T, NM_001184785.2:c.1889C>T, NM_001184785.1:c.1889C>T, NM_001184786.2:c.1850C>T, NM_001184786.1:c.1850C>T, NM_001184787.2:c.1889C>T, NM_001184787.1:c.1889C>T, NM_001184788.2:c.1850C>T, NM_001184788.1:c.1850C>T, NM_001184792.2:c.1889C>T, NM_001184792.1:c.1889C>T, NM_001184789.2:c.1850C>T, NM_001184789.1:c.1850C>T, NM_001184790.2:c.1718C>T, NM_001184790.1:c.1718C>T, NM_001184791.2:c.1718C>T, NM_001184791.1:c.1718C>T, NM_001184793.2:c.1889C>T, NM_001184793.1:c.1889C>T, NM_001184794.2:c.1850C>T, NM_001184794.1:c.1850C>T, NP_062565.2:p.Ala630Val, NP_001171714.1:p.Ala630Val, NP_001171715.1:p.Ala617Val, NP_001171716.1:p.Ala630Val, NP_001171717.1:p.Ala617Val, NP_001171721.1:p.Ala630Val, NP_001171718.1:p.Ala617Val, NP_001171719.1:p.Ala573Val, NP_001171720.1:p.Ala573Val, NP_001171722.1:p.Ala630Val, NP_001171723.1:p.Ala617Val

                        12.

                        rs1476575755 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          10:34696395 (GRCh38)
                          10:34985323 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:34696394:G:C
                          Gene:
                          PARD3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000010.11:g.34696395G>C, NC_000010.10:g.34985323G>C, NG_052602.2:g.123901C>G, NG_052602.1:g.123931C>G, NM_019619.4:c.145C>G, NM_019619.3:c.145C>G, NM_001184785.2:c.145C>G, NM_001184785.1:c.145C>G, NM_001184786.2:c.145C>G, NM_001184786.1:c.145C>G, NM_001184787.2:c.145C>G, NM_001184787.1:c.145C>G, NM_001184788.2:c.145C>G, NM_001184788.1:c.145C>G, NM_001184792.2:c.145C>G, NM_001184792.1:c.145C>G, NM_001184789.2:c.145C>G, NM_001184789.1:c.145C>G, NM_001184790.2:c.145C>G, NM_001184790.1:c.145C>G, NM_001184791.2:c.145C>G, NM_001184791.1:c.145C>G, NM_001184793.2:c.145C>G, NM_001184793.1:c.145C>G, NM_001184794.2:c.145C>G, NM_001184794.1:c.145C>G, NP_062565.2:p.His49Asp, NP_001171714.1:p.His49Asp, NP_001171715.1:p.His49Asp, NP_001171716.1:p.His49Asp, NP_001171717.1:p.His49Asp, NP_001171721.1:p.His49Asp, NP_001171718.1:p.His49Asp, NP_001171719.1:p.His49Asp, NP_001171720.1:p.His49Asp, NP_001171722.1:p.His49Asp, NP_001171723.1:p.His49Asp

                          13.

                          rs1476327859 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:34359263 (GRCh38)
                            10:34648191 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:34359262:A:G
                            Gene:
                            PARD3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1476259919 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              10:34517042 (GRCh38)
                              10:34805970 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:34517041:A:C
                              Gene:
                              PARD3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000047/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.34517042A>C, NC_000010.10:g.34805970A>C, NG_052602.2:g.303254T>G, NG_052602.1:g.303284T>G, NM_019619.4:c.340T>G, NM_019619.3:c.340T>G, NM_001184785.2:c.340T>G, NM_001184785.1:c.340T>G, NM_001184786.2:c.340T>G, NM_001184786.1:c.340T>G, NM_001184787.2:c.340T>G, NM_001184787.1:c.340T>G, NM_001184788.2:c.340T>G, NM_001184788.1:c.340T>G, NM_001184792.2:c.340T>G, NM_001184792.1:c.340T>G, NM_001184789.2:c.340T>G, NM_001184789.1:c.340T>G, NM_001184790.2:c.340T>G, NM_001184790.1:c.340T>G, NM_001184791.2:c.340T>G, NM_001184791.1:c.340T>G, NM_001184793.2:c.340T>G, NM_001184793.1:c.340T>G, NM_001184794.2:c.340T>G, NM_001184794.1:c.340T>G, NP_062565.2:p.Ser114Ala, NP_001171714.1:p.Ser114Ala, NP_001171715.1:p.Ser114Ala, NP_001171716.1:p.Ser114Ala, NP_001171717.1:p.Ser114Ala, NP_001171721.1:p.Ser114Ala, NP_001171718.1:p.Ser114Ala, NP_001171719.1:p.Ser114Ala, NP_001171720.1:p.Ser114Ala, NP_001171722.1:p.Ser114Ala, NP_001171723.1:p.Ser114Ala

                              15.

                              rs1475586551 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TTTC>- [Show Flanks]
                                Chromosome:
                                10:34317191 (GRCh38)
                                10:34606119 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:34317190:TTTC:
                                Gene:
                                PARD3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.34317191_34317194del, NC_000010.10:g.34606119_34606122del, NG_052602.2:g.503102_503105del, NG_052602.1:g.503132_503135del, NM_019619.4:c.2987_2990del, NM_019619.3:c.2987_2990del, NM_001184785.2:c.2978_2981del, NM_001184785.1:c.2978_2981del, NM_001184786.2:c.2939_2942del, NM_001184786.1:c.2939_2942del, NM_001184787.2:c.2987_2990del, NM_001184787.1:c.2987_2990del, NM_001184788.2:c.2849_2852del, NM_001184788.1:c.2849_2852del, NM_001184792.2:c.2978_2981del, NM_001184792.1:c.2978_2981del, NM_001184790.2:c.2717_2720del, NM_001184790.1:c.2717_2720del, NM_001184791.2:c.2762_2765del, NM_001184791.1:c.2762_2765del, NM_001184793.2:c.2885_2888del, NM_001184793.1:c.2885_2888del, NM_001184789.2:c.2849_2852del, NM_001184789.1:c.2849_2852del, NM_001184794.2:c.2849_2852del, NM_001184794.1:c.2849_2852del, NP_062565.2:p.Gly996fs, NP_001171714.1:p.Gly993fs, NP_001171715.1:p.Gly980fs, NP_001171716.1:p.Gly996fs, NP_001171717.1:p.Gly950fs, NP_001171721.1:p.Gly993fs, NP_001171719.1:p.Gly906fs, NP_001171720.1:p.Gly921fs, NP_001171722.1:p.Gly962fs, NP_001171718.1:p.Gly950fs, NP_001171723.1:p.Gly950fs

                                16.

                                rs1475332635 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:34384134 (GRCh38)
                                  10:34673062 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:34384133:A:G
                                  Gene:
                                  PARD3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1475301590 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:34384219 (GRCh38)
                                    10:34673147 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:34384218:C:T
                                    Gene:
                                    PARD3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.34384219C>T, NC_000010.10:g.34673147C>T, NG_052602.2:g.436077G>A, NG_052602.1:g.436107G>A, NM_019619.4:c.926G>A, NM_019619.3:c.926G>A, NM_001184785.2:c.926G>A, NM_001184785.1:c.926G>A, NM_001184786.2:c.926G>A, NM_001184786.1:c.926G>A, NM_001184787.2:c.926G>A, NM_001184787.1:c.926G>A, NM_001184788.2:c.926G>A, NM_001184788.1:c.926G>A, NM_001184792.2:c.926G>A, NM_001184792.1:c.926G>A, NM_001184789.2:c.926G>A, NM_001184789.1:c.926G>A, NM_001184790.2:c.794G>A, NM_001184790.1:c.794G>A, NM_001184791.2:c.794G>A, NM_001184791.1:c.794G>A, NM_001184793.2:c.926G>A, NM_001184793.1:c.926G>A, NM_001184794.2:c.926G>A, NM_001184794.1:c.926G>A, NP_062565.2:p.Gly309Asp, NP_001171714.1:p.Gly309Asp, NP_001171715.1:p.Gly309Asp, NP_001171716.1:p.Gly309Asp, NP_001171717.1:p.Gly309Asp, NP_001171721.1:p.Gly309Asp, NP_001171718.1:p.Gly309Asp, NP_001171719.1:p.Gly265Asp, NP_001171720.1:p.Gly265Asp, NP_001171722.1:p.Gly309Asp, NP_001171723.1:p.Gly309Asp

                                    18.

                                    rs1475152820 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:34360166 (GRCh38)
                                      10:34649094 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:34360165:G:A
                                      Gene:
                                      PARD3 (Varview)
                                      Functional Consequence:
                                      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_000010.11:g.34360166G>A, NC_000010.10:g.34649094G>A, NG_052602.2:g.460130C>T, NG_052602.1:g.460160C>T, NM_019619.4:c.1801C>T, NM_019619.3:c.1801C>T, NM_001184785.2:c.1801C>T, NM_001184785.1:c.1801C>T, NM_001184786.2:c.1762C>T, NM_001184786.1:c.1762C>T, NM_001184787.2:c.1801C>T, NM_001184787.1:c.1801C>T, NM_001184788.2:c.1762C>T, NM_001184788.1:c.1762C>T, NM_001184792.2:c.1801C>T, NM_001184792.1:c.1801C>T, NM_001184789.2:c.1762C>T, NM_001184789.1:c.1762C>T, NM_001184790.2:c.1630C>T, NM_001184790.1:c.1630C>T, NM_001184791.2:c.1630C>T, NM_001184791.1:c.1630C>T, NM_001184793.2:c.1801C>T, NM_001184793.1:c.1801C>T, NM_001184794.2:c.1762C>T, NM_001184794.1:c.1762C>T, NP_062565.2:p.Leu601Phe, NP_001171714.1:p.Leu601Phe, NP_001171715.1:p.Leu588Phe, NP_001171716.1:p.Leu601Phe, NP_001171717.1:p.Leu588Phe, NP_001171721.1:p.Leu601Phe, NP_001171718.1:p.Leu588Phe, NP_001171719.1:p.Leu544Phe, NP_001171720.1:p.Leu544Phe, NP_001171722.1:p.Leu601Phe, NP_001171723.1:p.Leu588Phe

                                      19.

                                      rs1474325602 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:34382744 (GRCh38)
                                        10:34671672 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:34382743:G:A
                                        Gene:
                                        PARD3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.34382744G>A, NC_000010.10:g.34671672G>A, NG_052602.2:g.437552C>T, NG_052602.1:g.437582C>T, NM_019619.4:c.1195C>T, NM_019619.3:c.1195C>T, NM_001184785.2:c.1195C>T, NM_001184785.1:c.1195C>T, NM_001184786.2:c.1195C>T, NM_001184786.1:c.1195C>T, NM_001184787.2:c.1195C>T, NM_001184787.1:c.1195C>T, NM_001184788.2:c.1195C>T, NM_001184788.1:c.1195C>T, NM_001184792.2:c.1195C>T, NM_001184792.1:c.1195C>T, NM_001184789.2:c.1195C>T, NM_001184789.1:c.1195C>T, NM_001184790.2:c.1063C>T, NM_001184790.1:c.1063C>T, NM_001184791.2:c.1063C>T, NM_001184791.1:c.1063C>T, NM_001184793.2:c.1195C>T, NM_001184793.1:c.1195C>T, NM_001184794.2:c.1195C>T, NM_001184794.1:c.1195C>T, NP_062565.2:p.Leu399Phe, NP_001171714.1:p.Leu399Phe, NP_001171715.1:p.Leu399Phe, NP_001171716.1:p.Leu399Phe, NP_001171717.1:p.Leu399Phe, NP_001171721.1:p.Leu399Phe, NP_001171718.1:p.Leu399Phe, NP_001171719.1:p.Leu355Phe, NP_001171720.1:p.Leu355Phe, NP_001171722.1:p.Leu399Phe, NP_001171723.1:p.Leu399Phe

                                        20.

                                        rs1473999572 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:34382694 (GRCh38)
                                          10:34671622 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:34382693:T:C
                                          Gene:
                                          PARD3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.34382694T>C, NC_000010.10:g.34671622T>C, NG_052602.2:g.437602A>G, NG_052602.1:g.437632A>G, NM_019619.4:c.1245A>G, NM_019619.3:c.1245A>G, NM_001184785.2:c.1245A>G, NM_001184785.1:c.1245A>G, NM_001184786.2:c.1245A>G, NM_001184786.1:c.1245A>G, NM_001184787.2:c.1245A>G, NM_001184787.1:c.1245A>G, NM_001184788.2:c.1245A>G, NM_001184788.1:c.1245A>G, NM_001184792.2:c.1245A>G, NM_001184792.1:c.1245A>G, NM_001184790.2:c.1113A>G, NM_001184790.1:c.1113A>G, NM_001184791.2:c.1113A>G, NM_001184791.1:c.1113A>G, NM_001184793.2:c.1245A>G, NM_001184793.1:c.1245A>G, NM_001184789.2:c.1245A>G, NM_001184789.1:c.1245A>G, NM_001184794.2:c.1245A>G, NM_001184794.1:c.1245A>G, NP_062565.2:p.Ile415Met, NP_001171714.1:p.Ile415Met, NP_001171715.1:p.Ile415Met, NP_001171716.1:p.Ile415Met, NP_001171717.1:p.Ile415Met, NP_001171721.1:p.Ile415Met, NP_001171719.1:p.Ile371Met, NP_001171720.1:p.Ile371Met, NP_001171722.1:p.Ile415Met, NP_001171718.1:p.Ile415Met, NP_001171723.1:p.Ile415Met

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