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Items: 1 to 20 of 141

1.

rs1487807396 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    3:167720128 (GRCh38)
    3:167437916 (GRCh37)
    Canonical SPDI:
    NC_000003.12:167720127:A:T
    Gene:
    PDCD10 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.167720128A>T, NC_000003.11:g.167437916A>T, NG_008158.1:g.19736T>A, NM_007217.4:c.30T>A, NM_007217.3:c.30T>A, NM_145859.2:c.30T>A, NM_145859.1:c.30T>A, NM_145860.2:c.30T>A, NM_145860.1:c.30T>A, XM_005247087.6:c.30T>A, XM_005247087.5:c.30T>A, XM_005247087.4:c.30T>A, XM_005247087.3:c.30T>A, XM_005247087.2:c.30T>A, XM_005247087.1:c.30T>A, XM_005247086.6:c.30T>A, XM_005247086.5:c.30T>A, XM_005247086.4:c.30T>A, XM_005247086.3:c.30T>A, XM_005247086.2:c.30T>A, XM_005247086.1:c.30T>A, XM_006713485.5:c.30T>A, XM_006713485.4:c.30T>A, XM_006713485.3:c.30T>A, XM_006713485.2:c.30T>A, XM_006713485.1:c.30T>A, XM_005247088.5:c.30T>A, XM_005247088.4:c.30T>A, XM_005247088.3:c.30T>A, XM_005247088.2:c.30T>A, XM_005247088.1:c.30T>A, XM_011512369.4:c.30T>A, XM_011512369.3:c.30T>A, XM_011512369.2:c.30T>A, XM_011512369.1:c.30T>A, XM_011512368.4:c.30T>A, XM_011512368.3:c.30T>A, XM_011512368.2:c.30T>A, XM_011512368.1:c.30T>A, XM_017005644.3:c.30T>A, XM_017005644.2:c.30T>A, XM_017005644.1:c.30T>A, XM_047447374.1:c.30T>A, XM_047447375.1:c.30T>A, NP_009148.2:p.Asn10Lys, NP_665858.1:p.Asn10Lys, NP_665859.1:p.Asn10Lys, XP_005247144.1:p.Asn10Lys, XP_005247143.1:p.Asn10Lys, XP_006713548.1:p.Asn10Lys, XP_005247145.1:p.Asn10Lys, XP_011510671.1:p.Asn10Lys, XP_011510670.1:p.Asn10Lys, XP_016861133.1:p.Asn10Lys, XP_047303330.1:p.Asn10Lys, XP_047303331.1:p.Asn10Lys

    2.

    rs1483807140 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      3:167687303 (GRCh38)
      3:167405091 (GRCh37)
      Canonical SPDI:
      NC_000003.12:167687302:T:G
      Gene:
      PDCD10 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000014/2 (GnomAD)
      HGVS:
      NC_000003.12:g.167687303T>G, NC_000003.11:g.167405091T>G, NG_008158.1:g.52561A>C, NM_007217.4:c.488A>C, NM_007217.3:c.488A>C, NM_145859.2:c.488A>C, NM_145859.1:c.488A>C, NM_145860.2:c.488A>C, NM_145860.1:c.488A>C, XM_005247087.6:c.488A>C, XM_005247087.5:c.488A>C, XM_005247087.4:c.488A>C, XM_005247087.3:c.488A>C, XM_005247087.2:c.488A>C, XM_005247087.1:c.488A>C, XM_005247086.6:c.488A>C, XM_005247086.5:c.488A>C, XM_005247086.4:c.488A>C, XM_005247086.3:c.488A>C, XM_005247086.2:c.488A>C, XM_005247086.1:c.488A>C, XM_006713485.5:c.488A>C, XM_006713485.4:c.488A>C, XM_006713485.3:c.488A>C, XM_006713485.2:c.488A>C, XM_006713485.1:c.488A>C, XM_005247088.5:c.488A>C, XM_005247088.4:c.488A>C, XM_005247088.3:c.488A>C, XM_005247088.2:c.488A>C, XM_005247088.1:c.488A>C, XM_011512369.4:c.488A>C, XM_011512369.3:c.488A>C, XM_011512369.2:c.488A>C, XM_011512369.1:c.488A>C, XM_011512368.4:c.488A>C, XM_011512368.3:c.488A>C, XM_011512368.2:c.488A>C, XM_011512368.1:c.488A>C, XM_017005644.3:c.488A>C, XM_017005644.2:c.488A>C, XM_017005644.1:c.488A>C, XM_047447374.1:c.488A>C, XM_047447375.1:c.488A>C, NP_009148.2:p.Gln163Pro, NP_665858.1:p.Gln163Pro, NP_665859.1:p.Gln163Pro, XP_005247144.1:p.Gln163Pro, XP_005247143.1:p.Gln163Pro, XP_006713548.1:p.Gln163Pro, XP_005247145.1:p.Gln163Pro, XP_011510671.1:p.Gln163Pro, XP_011510670.1:p.Gln163Pro, XP_016861133.1:p.Gln163Pro, XP_047303330.1:p.Gln163Pro, XP_047303331.1:p.Gln163Pro

      3.

      rs1468719441 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        3:167684337 (GRCh38)
        3:167402125 (GRCh37)
        Canonical SPDI:
        NC_000003.12:167684336:T:A
        Gene:
        PDCD10 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.167684337T>A, NC_000003.11:g.167402125T>A, NG_008158.1:g.55527A>T, NM_007217.4:c.610A>T, NM_007217.3:c.610A>T, NM_145859.2:c.610A>T, NM_145859.1:c.610A>T, NM_145860.2:c.610A>T, NM_145860.1:c.610A>T, XM_005247087.6:c.610A>T, XM_005247087.5:c.610A>T, XM_005247087.4:c.610A>T, XM_005247087.3:c.610A>T, XM_005247087.2:c.610A>T, XM_005247087.1:c.610A>T, XM_005247086.6:c.610A>T, XM_005247086.5:c.610A>T, XM_005247086.4:c.610A>T, XM_005247086.3:c.610A>T, XM_005247086.2:c.610A>T, XM_005247086.1:c.610A>T, XM_006713485.5:c.610A>T, XM_006713485.4:c.610A>T, XM_006713485.3:c.610A>T, XM_006713485.2:c.610A>T, XM_006713485.1:c.610A>T, XM_005247088.5:c.610A>T, XM_005247088.4:c.610A>T, XM_005247088.3:c.610A>T, XM_005247088.2:c.610A>T, XM_005247088.1:c.610A>T, XM_011512369.4:c.610A>T, XM_011512369.3:c.610A>T, XM_011512369.2:c.610A>T, XM_011512369.1:c.610A>T, XM_011512368.4:c.610A>T, XM_011512368.3:c.610A>T, XM_011512368.2:c.610A>T, XM_011512368.1:c.610A>T, XM_017005644.3:c.610A>T, XM_017005644.2:c.610A>T, XM_017005644.1:c.610A>T, XM_047447374.1:c.610A>T, XM_047447375.1:c.610A>T, NP_009148.2:p.Ile204Leu, NP_665858.1:p.Ile204Leu, NP_665859.1:p.Ile204Leu, XP_005247144.1:p.Ile204Leu, XP_005247143.1:p.Ile204Leu, XP_006713548.1:p.Ile204Leu, XP_005247145.1:p.Ile204Leu, XP_011510671.1:p.Ile204Leu, XP_011510670.1:p.Ile204Leu, XP_016861133.1:p.Ile204Leu, XP_047303330.1:p.Ile204Leu, XP_047303331.1:p.Ile204Leu

        4.

        rs1466400887 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:167687675 (GRCh38)
          3:167405463 (GRCh37)
          Canonical SPDI:
          NC_000003.12:167687674:T:C
          Gene:
          PDCD10 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000028/1 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000008/2 (TOPMED)
          C=0.000029/4 (GnomAD)
          HGVS:
          NC_000003.12:g.167687675T>C, NC_000003.11:g.167405463T>C, NG_008158.1:g.52189A>G, NM_007217.4:c.414A>G, NM_007217.3:c.414A>G, NM_145859.2:c.414A>G, NM_145859.1:c.414A>G, NM_145860.2:c.414A>G, NM_145860.1:c.414A>G, XM_005247087.6:c.414A>G, XM_005247087.5:c.414A>G, XM_005247087.4:c.414A>G, XM_005247087.3:c.414A>G, XM_005247087.2:c.414A>G, XM_005247087.1:c.414A>G, XM_005247086.6:c.414A>G, XM_005247086.5:c.414A>G, XM_005247086.4:c.414A>G, XM_005247086.3:c.414A>G, XM_005247086.2:c.414A>G, XM_005247086.1:c.414A>G, XM_006713485.5:c.414A>G, XM_006713485.4:c.414A>G, XM_006713485.3:c.414A>G, XM_006713485.2:c.414A>G, XM_006713485.1:c.414A>G, XM_005247088.5:c.414A>G, XM_005247088.4:c.414A>G, XM_005247088.3:c.414A>G, XM_005247088.2:c.414A>G, XM_005247088.1:c.414A>G, XM_011512369.4:c.414A>G, XM_011512369.3:c.414A>G, XM_011512369.2:c.414A>G, XM_011512369.1:c.414A>G, XM_011512368.4:c.414A>G, XM_011512368.3:c.414A>G, XM_011512368.2:c.414A>G, XM_011512368.1:c.414A>G, XM_017005644.3:c.414A>G, XM_017005644.2:c.414A>G, XM_017005644.1:c.414A>G, XM_047447374.1:c.414A>G, XM_047447375.1:c.414A>G, NP_009148.2:p.Ile138Met, NP_665858.1:p.Ile138Met, NP_665859.1:p.Ile138Met, XP_005247144.1:p.Ile138Met, XP_005247143.1:p.Ile138Met, XP_006713548.1:p.Ile138Met, XP_005247145.1:p.Ile138Met, XP_011510671.1:p.Ile138Met, XP_011510670.1:p.Ile138Met, XP_016861133.1:p.Ile138Met, XP_047303330.1:p.Ile138Met, XP_047303331.1:p.Ile138Met

          5.

          rs1463194234 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            3:167704877 (GRCh38)
            3:167422665 (GRCh37)
            Canonical SPDI:
            NC_000003.12:167704876:A:C
            Gene:
            PDCD10 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000031/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000003.12:g.167704877A>C, NC_000003.11:g.167422665A>C, NG_008158.1:g.34987T>G, NM_007217.4:c.115T>G, NM_007217.3:c.115T>G, NM_145859.2:c.115T>G, NM_145859.1:c.115T>G, NM_145860.2:c.115T>G, NM_145860.1:c.115T>G, XM_005247087.6:c.115T>G, XM_005247087.5:c.115T>G, XM_005247087.4:c.115T>G, XM_005247087.3:c.115T>G, XM_005247087.2:c.115T>G, XM_005247087.1:c.115T>G, XM_005247086.6:c.115T>G, XM_005247086.5:c.115T>G, XM_005247086.4:c.115T>G, XM_005247086.3:c.115T>G, XM_005247086.2:c.115T>G, XM_005247086.1:c.115T>G, XM_006713485.5:c.115T>G, XM_006713485.4:c.115T>G, XM_006713485.3:c.115T>G, XM_006713485.2:c.115T>G, XM_006713485.1:c.115T>G, XM_005247088.5:c.115T>G, XM_005247088.4:c.115T>G, XM_005247088.3:c.115T>G, XM_005247088.2:c.115T>G, XM_005247088.1:c.115T>G, XM_011512369.4:c.115T>G, XM_011512369.3:c.115T>G, XM_011512369.2:c.115T>G, XM_011512369.1:c.115T>G, XM_011512368.4:c.115T>G, XM_011512368.3:c.115T>G, XM_011512368.2:c.115T>G, XM_011512368.1:c.115T>G, XM_017005644.3:c.115T>G, XM_017005644.2:c.115T>G, XM_017005644.1:c.115T>G, XM_047447374.1:c.115T>G, XM_047447375.1:c.115T>G, NP_009148.2:p.Ser39Ala, NP_665858.1:p.Ser39Ala, NP_665859.1:p.Ser39Ala, XP_005247144.1:p.Ser39Ala, XP_005247143.1:p.Ser39Ala, XP_006713548.1:p.Ser39Ala, XP_005247145.1:p.Ser39Ala, XP_011510671.1:p.Ser39Ala, XP_011510670.1:p.Ser39Ala, XP_016861133.1:p.Ser39Ala, XP_047303330.1:p.Ser39Ala, XP_047303331.1:p.Ser39Ala

            6.

            rs1461697561 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:167704856 (GRCh38)
              3:167422644 (GRCh37)
              Canonical SPDI:
              NC_000003.12:167704855:C:T
              Gene:
              PDCD10 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000003.12:g.167704856C>T, NC_000003.11:g.167422644C>T, NG_008158.1:g.35008G>A, NM_007217.4:c.136G>A, NM_007217.3:c.136G>A, NM_145859.2:c.136G>A, NM_145859.1:c.136G>A, NM_145860.2:c.136G>A, NM_145860.1:c.136G>A, XM_005247087.6:c.136G>A, XM_005247087.5:c.136G>A, XM_005247087.4:c.136G>A, XM_005247087.3:c.136G>A, XM_005247087.2:c.136G>A, XM_005247087.1:c.136G>A, XM_005247086.6:c.136G>A, XM_005247086.5:c.136G>A, XM_005247086.4:c.136G>A, XM_005247086.3:c.136G>A, XM_005247086.2:c.136G>A, XM_005247086.1:c.136G>A, XM_006713485.5:c.136G>A, XM_006713485.4:c.136G>A, XM_006713485.3:c.136G>A, XM_006713485.2:c.136G>A, XM_006713485.1:c.136G>A, XM_005247088.5:c.136G>A, XM_005247088.4:c.136G>A, XM_005247088.3:c.136G>A, XM_005247088.2:c.136G>A, XM_005247088.1:c.136G>A, XM_011512369.4:c.136G>A, XM_011512369.3:c.136G>A, XM_011512369.2:c.136G>A, XM_011512369.1:c.136G>A, XM_011512368.4:c.136G>A, XM_011512368.3:c.136G>A, XM_011512368.2:c.136G>A, XM_011512368.1:c.136G>A, XM_017005644.3:c.136G>A, XM_017005644.2:c.136G>A, XM_017005644.1:c.136G>A, XM_047447374.1:c.136G>A, XM_047447375.1:c.136G>A, NP_009148.2:p.Ala46Thr, NP_665858.1:p.Ala46Thr, NP_665859.1:p.Ala46Thr, XP_005247144.1:p.Ala46Thr, XP_005247143.1:p.Ala46Thr, XP_006713548.1:p.Ala46Thr, XP_005247145.1:p.Ala46Thr, XP_011510671.1:p.Ala46Thr, XP_011510670.1:p.Ala46Thr, XP_016861133.1:p.Ala46Thr, XP_047303330.1:p.Ala46Thr, XP_047303331.1:p.Ala46Thr

              7.

              rs1458605236 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                3:167697121 (GRCh38)
                3:167414909 (GRCh37)
                Canonical SPDI:
                NC_000003.12:167697120:T:A,NC_000003.12:167697120:T:G
                Gene:
                PDCD10 (Varview)
                Functional Consequence:
                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)
                A=0.000071/2 (TOMMO)
                HGVS:
                NC_000003.12:g.167697121T>A, NC_000003.12:g.167697121T>G, NC_000003.11:g.167414909T>A, NC_000003.11:g.167414909T>G, NG_008158.1:g.42743A>T, NG_008158.1:g.42743A>C, NM_007217.4:c.156A>T, NM_007217.4:c.156A>C, NM_007217.3:c.156A>T, NM_007217.3:c.156A>C, NM_145859.2:c.156A>T, NM_145859.2:c.156A>C, NM_145859.1:c.156A>T, NM_145859.1:c.156A>C, NM_145860.2:c.156A>T, NM_145860.2:c.156A>C, NM_145860.1:c.156A>T, NM_145860.1:c.156A>C, XM_005247087.6:c.156A>T, XM_005247087.6:c.156A>C, XM_005247087.5:c.156A>T, XM_005247087.5:c.156A>C, XM_005247087.4:c.156A>T, XM_005247087.4:c.156A>C, XM_005247087.3:c.156A>T, XM_005247087.3:c.156A>C, XM_005247087.2:c.156A>T, XM_005247087.2:c.156A>C, XM_005247087.1:c.156A>T, XM_005247087.1:c.156A>C, XM_005247086.6:c.156A>T, XM_005247086.6:c.156A>C, XM_005247086.5:c.156A>T, XM_005247086.5:c.156A>C, XM_005247086.4:c.156A>T, XM_005247086.4:c.156A>C, XM_005247086.3:c.156A>T, XM_005247086.3:c.156A>C, XM_005247086.2:c.156A>T, XM_005247086.2:c.156A>C, XM_005247086.1:c.156A>T, XM_005247086.1:c.156A>C, XM_006713485.5:c.156A>T, XM_006713485.5:c.156A>C, XM_006713485.4:c.156A>T, XM_006713485.4:c.156A>C, XM_006713485.3:c.156A>T, XM_006713485.3:c.156A>C, XM_006713485.2:c.156A>T, XM_006713485.2:c.156A>C, XM_006713485.1:c.156A>T, XM_006713485.1:c.156A>C, XM_005247088.5:c.156A>T, XM_005247088.5:c.156A>C, XM_005247088.4:c.156A>T, XM_005247088.4:c.156A>C, XM_005247088.3:c.156A>T, XM_005247088.3:c.156A>C, XM_005247088.2:c.156A>T, XM_005247088.2:c.156A>C, XM_005247088.1:c.156A>T, XM_005247088.1:c.156A>C, XM_011512369.4:c.156A>T, XM_011512369.4:c.156A>C, XM_011512369.3:c.156A>T, XM_011512369.3:c.156A>C, XM_011512369.2:c.156A>T, XM_011512369.2:c.156A>C, XM_011512369.1:c.156A>T, XM_011512369.1:c.156A>C, XM_011512368.4:c.156A>T, XM_011512368.4:c.156A>C, XM_011512368.3:c.156A>T, XM_011512368.3:c.156A>C, XM_011512368.2:c.156A>T, XM_011512368.2:c.156A>C, XM_011512368.1:c.156A>T, XM_011512368.1:c.156A>C, XM_017005644.3:c.156A>T, XM_017005644.3:c.156A>C, XM_017005644.2:c.156A>T, XM_017005644.2:c.156A>C, XM_017005644.1:c.156A>T, XM_017005644.1:c.156A>C, XM_047447374.1:c.156A>T, XM_047447374.1:c.156A>C, XM_047447375.1:c.156A>T, XM_047447375.1:c.156A>C, NP_009148.2:p.Glu52Asp, NP_009148.2:p.Glu52Asp, NP_665858.1:p.Glu52Asp, NP_665858.1:p.Glu52Asp, NP_665859.1:p.Glu52Asp, NP_665859.1:p.Glu52Asp, XP_005247144.1:p.Glu52Asp, XP_005247144.1:p.Glu52Asp, XP_005247143.1:p.Glu52Asp, XP_005247143.1:p.Glu52Asp, XP_006713548.1:p.Glu52Asp, XP_006713548.1:p.Glu52Asp, XP_005247145.1:p.Glu52Asp, XP_005247145.1:p.Glu52Asp, XP_011510671.1:p.Glu52Asp, XP_011510671.1:p.Glu52Asp, XP_011510670.1:p.Glu52Asp, XP_011510670.1:p.Glu52Asp, XP_016861133.1:p.Glu52Asp, XP_016861133.1:p.Glu52Asp, XP_047303330.1:p.Glu52Asp, XP_047303330.1:p.Glu52Asp, XP_047303331.1:p.Glu52Asp, XP_047303331.1:p.Glu52Asp

                8.

                rs1435040991 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  3:167697102 (GRCh38)
                  3:167414890 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:167697101:T:A
                  Gene:
                  PDCD10 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.167697102T>A, NC_000003.11:g.167414890T>A, NG_008158.1:g.42762A>T, NM_007217.4:c.175A>T, NM_007217.3:c.175A>T, NM_145859.2:c.175A>T, NM_145859.1:c.175A>T, NM_145860.2:c.175A>T, NM_145860.1:c.175A>T, XM_005247087.6:c.175A>T, XM_005247087.5:c.175A>T, XM_005247087.4:c.175A>T, XM_005247087.3:c.175A>T, XM_005247087.2:c.175A>T, XM_005247087.1:c.175A>T, XM_005247086.6:c.175A>T, XM_005247086.5:c.175A>T, XM_005247086.4:c.175A>T, XM_005247086.3:c.175A>T, XM_005247086.2:c.175A>T, XM_005247086.1:c.175A>T, XM_006713485.5:c.175A>T, XM_006713485.4:c.175A>T, XM_006713485.3:c.175A>T, XM_006713485.2:c.175A>T, XM_006713485.1:c.175A>T, XM_005247088.5:c.175A>T, XM_005247088.4:c.175A>T, XM_005247088.3:c.175A>T, XM_005247088.2:c.175A>T, XM_005247088.1:c.175A>T, XM_011512369.4:c.175A>T, XM_011512369.3:c.175A>T, XM_011512369.2:c.175A>T, XM_011512369.1:c.175A>T, XM_011512368.4:c.175A>T, XM_011512368.3:c.175A>T, XM_011512368.2:c.175A>T, XM_011512368.1:c.175A>T, XM_017005644.3:c.175A>T, XM_017005644.2:c.175A>T, XM_017005644.1:c.175A>T, XM_047447374.1:c.175A>T, XM_047447375.1:c.175A>T, NP_009148.2:p.Thr59Ser, NP_665858.1:p.Thr59Ser, NP_665859.1:p.Thr59Ser, XP_005247144.1:p.Thr59Ser, XP_005247143.1:p.Thr59Ser, XP_006713548.1:p.Thr59Ser, XP_005247145.1:p.Thr59Ser, XP_011510671.1:p.Thr59Ser, XP_011510670.1:p.Thr59Ser, XP_016861133.1:p.Thr59Ser, XP_047303330.1:p.Thr59Ser, XP_047303331.1:p.Thr59Ser

                  9.

                  rs1433322333 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    3:167687691 (GRCh38)
                    3:167405479 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:167687690:T:A
                    Gene:
                    PDCD10 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.167687691T>A, NC_000003.11:g.167405479T>A, NG_008158.1:g.52173A>T, NM_007217.4:c.398A>T, NM_007217.3:c.398A>T, NM_145859.2:c.398A>T, NM_145859.1:c.398A>T, NM_145860.2:c.398A>T, NM_145860.1:c.398A>T, XM_005247087.6:c.398A>T, XM_005247087.5:c.398A>T, XM_005247087.4:c.398A>T, XM_005247087.3:c.398A>T, XM_005247087.2:c.398A>T, XM_005247087.1:c.398A>T, XM_005247086.6:c.398A>T, XM_005247086.5:c.398A>T, XM_005247086.4:c.398A>T, XM_005247086.3:c.398A>T, XM_005247086.2:c.398A>T, XM_005247086.1:c.398A>T, XM_006713485.5:c.398A>T, XM_006713485.4:c.398A>T, XM_006713485.3:c.398A>T, XM_006713485.2:c.398A>T, XM_006713485.1:c.398A>T, XM_005247088.5:c.398A>T, XM_005247088.4:c.398A>T, XM_005247088.3:c.398A>T, XM_005247088.2:c.398A>T, XM_005247088.1:c.398A>T, XM_011512369.4:c.398A>T, XM_011512369.3:c.398A>T, XM_011512369.2:c.398A>T, XM_011512369.1:c.398A>T, XM_011512368.4:c.398A>T, XM_011512368.3:c.398A>T, XM_011512368.2:c.398A>T, XM_011512368.1:c.398A>T, XM_017005644.3:c.398A>T, XM_017005644.2:c.398A>T, XM_017005644.1:c.398A>T, XM_047447374.1:c.398A>T, XM_047447375.1:c.398A>T, NP_009148.2:p.Asp133Val, NP_665858.1:p.Asp133Val, NP_665859.1:p.Asp133Val, XP_005247144.1:p.Asp133Val, XP_005247143.1:p.Asp133Val, XP_006713548.1:p.Asp133Val, XP_005247145.1:p.Asp133Val, XP_011510671.1:p.Asp133Val, XP_011510670.1:p.Asp133Val, XP_016861133.1:p.Asp133Val, XP_047303330.1:p.Asp133Val, XP_047303331.1:p.Asp133Val

                    10.

                    rs1428517369 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:167687620 (GRCh38)
                      3:167405408 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:167687619:G:A
                      Gene:
                      PDCD10 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00003/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000003.12:g.167687620G>A, NC_000003.11:g.167405408G>A, NG_008158.1:g.52244C>T, NM_007217.4:c.469C>T, NM_007217.3:c.469C>T, NM_145859.2:c.469C>T, NM_145859.1:c.469C>T, NM_145860.2:c.469C>T, NM_145860.1:c.469C>T, XM_005247087.6:c.469C>T, XM_005247087.5:c.469C>T, XM_005247087.4:c.469C>T, XM_005247087.3:c.469C>T, XM_005247087.2:c.469C>T, XM_005247087.1:c.469C>T, XM_005247086.6:c.469C>T, XM_005247086.5:c.469C>T, XM_005247086.4:c.469C>T, XM_005247086.3:c.469C>T, XM_005247086.2:c.469C>T, XM_005247086.1:c.469C>T, XM_006713485.5:c.469C>T, XM_006713485.4:c.469C>T, XM_006713485.3:c.469C>T, XM_006713485.2:c.469C>T, XM_006713485.1:c.469C>T, XM_005247088.5:c.469C>T, XM_005247088.4:c.469C>T, XM_005247088.3:c.469C>T, XM_005247088.2:c.469C>T, XM_005247088.1:c.469C>T, XM_011512369.4:c.469C>T, XM_011512369.3:c.469C>T, XM_011512369.2:c.469C>T, XM_011512369.1:c.469C>T, XM_011512368.4:c.469C>T, XM_011512368.3:c.469C>T, XM_011512368.2:c.469C>T, XM_011512368.1:c.469C>T, XM_017005644.3:c.469C>T, XM_017005644.2:c.469C>T, XM_017005644.1:c.469C>T, XM_047447374.1:c.469C>T, XM_047447375.1:c.469C>T, NP_009148.2:p.Arg157Cys, NP_665858.1:p.Arg157Cys, NP_665859.1:p.Arg157Cys, XP_005247144.1:p.Arg157Cys, XP_005247143.1:p.Arg157Cys, XP_006713548.1:p.Arg157Cys, XP_005247145.1:p.Arg157Cys, XP_011510671.1:p.Arg157Cys, XP_011510670.1:p.Arg157Cys, XP_016861133.1:p.Arg157Cys, XP_047303330.1:p.Arg157Cys, XP_047303331.1:p.Arg157Cys

                      11.

                      rs1421783974 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:167684363 (GRCh38)
                        3:167402151 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:167684362:T:C
                        Gene:
                        PDCD10 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.167684363T>C, NC_000003.11:g.167402151T>C, NG_008158.1:g.55501A>G, NM_007217.4:c.584A>G, NM_007217.3:c.584A>G, NM_145859.2:c.584A>G, NM_145859.1:c.584A>G, NM_145860.2:c.584A>G, NM_145860.1:c.584A>G, XM_005247087.6:c.584A>G, XM_005247087.5:c.584A>G, XM_005247087.4:c.584A>G, XM_005247087.3:c.584A>G, XM_005247087.2:c.584A>G, XM_005247087.1:c.584A>G, XM_005247086.6:c.584A>G, XM_005247086.5:c.584A>G, XM_005247086.4:c.584A>G, XM_005247086.3:c.584A>G, XM_005247086.2:c.584A>G, XM_005247086.1:c.584A>G, XM_006713485.5:c.584A>G, XM_006713485.4:c.584A>G, XM_006713485.3:c.584A>G, XM_006713485.2:c.584A>G, XM_006713485.1:c.584A>G, XM_005247088.5:c.584A>G, XM_005247088.4:c.584A>G, XM_005247088.3:c.584A>G, XM_005247088.2:c.584A>G, XM_005247088.1:c.584A>G, XM_011512369.4:c.584A>G, XM_011512369.3:c.584A>G, XM_011512369.2:c.584A>G, XM_011512369.1:c.584A>G, XM_011512368.4:c.584A>G, XM_011512368.3:c.584A>G, XM_011512368.2:c.584A>G, XM_011512368.1:c.584A>G, XM_017005644.3:c.584A>G, XM_017005644.2:c.584A>G, XM_017005644.1:c.584A>G, XM_047447374.1:c.584A>G, XM_047447375.1:c.584A>G, NP_009148.2:p.Asn195Ser, NP_665858.1:p.Asn195Ser, NP_665859.1:p.Asn195Ser, XP_005247144.1:p.Asn195Ser, XP_005247143.1:p.Asn195Ser, XP_006713548.1:p.Asn195Ser, XP_005247145.1:p.Asn195Ser, XP_011510671.1:p.Asn195Ser, XP_011510670.1:p.Asn195Ser, XP_016861133.1:p.Asn195Ser, XP_047303330.1:p.Asn195Ser, XP_047303331.1:p.Asn195Ser

                        12.

                        rs1420624933 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:167695713 (GRCh38)
                          3:167413501 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:167695712:A:G
                          Gene:
                          PDCD10 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000003.12:g.167695713A>G, NC_000003.11:g.167413501A>G, NG_008158.1:g.44151T>C, NM_007217.4:c.278T>C, NM_007217.3:c.278T>C, NM_145859.2:c.278T>C, NM_145859.1:c.278T>C, NM_145860.2:c.278T>C, NM_145860.1:c.278T>C, XM_005247087.6:c.278T>C, XM_005247087.5:c.278T>C, XM_005247087.4:c.278T>C, XM_005247087.3:c.278T>C, XM_005247087.2:c.278T>C, XM_005247087.1:c.278T>C, XM_005247086.6:c.278T>C, XM_005247086.5:c.278T>C, XM_005247086.4:c.278T>C, XM_005247086.3:c.278T>C, XM_005247086.2:c.278T>C, XM_005247086.1:c.278T>C, XM_006713485.5:c.278T>C, XM_006713485.4:c.278T>C, XM_006713485.3:c.278T>C, XM_006713485.2:c.278T>C, XM_006713485.1:c.278T>C, XM_005247088.5:c.278T>C, XM_005247088.4:c.278T>C, XM_005247088.3:c.278T>C, XM_005247088.2:c.278T>C, XM_005247088.1:c.278T>C, XM_011512369.4:c.278T>C, XM_011512369.3:c.278T>C, XM_011512369.2:c.278T>C, XM_011512369.1:c.278T>C, XM_011512368.4:c.278T>C, XM_011512368.3:c.278T>C, XM_011512368.2:c.278T>C, XM_011512368.1:c.278T>C, XM_017005644.3:c.278T>C, XM_017005644.2:c.278T>C, XM_017005644.1:c.278T>C, XM_047447374.1:c.278T>C, XM_047447375.1:c.278T>C, NP_009148.2:p.Ile93Thr, NP_665858.1:p.Ile93Thr, NP_665859.1:p.Ile93Thr, XP_005247144.1:p.Ile93Thr, XP_005247143.1:p.Ile93Thr, XP_006713548.1:p.Ile93Thr, XP_005247145.1:p.Ile93Thr, XP_011510671.1:p.Ile93Thr, XP_011510670.1:p.Ile93Thr, XP_016861133.1:p.Ile93Thr, XP_047303330.1:p.Ile93Thr, XP_047303331.1:p.Ile93Thr

                          13.

                          rs1404676956 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:167684361 (GRCh38)
                            3:167402149 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:167684360:G:A
                            Gene:
                            PDCD10 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained
                            Clinical significance:
                            pathogenic
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000003.12:g.167684361G>A, NC_000003.11:g.167402149G>A, NG_008158.1:g.55503C>T, NM_007217.4:c.586C>T, NM_007217.3:c.586C>T, NM_145859.2:c.586C>T, NM_145859.1:c.586C>T, NM_145860.2:c.586C>T, NM_145860.1:c.586C>T, XM_005247087.6:c.586C>T, XM_005247087.5:c.586C>T, XM_005247087.4:c.586C>T, XM_005247087.3:c.586C>T, XM_005247087.2:c.586C>T, XM_005247087.1:c.586C>T, XM_005247086.6:c.586C>T, XM_005247086.5:c.586C>T, XM_005247086.4:c.586C>T, XM_005247086.3:c.586C>T, XM_005247086.2:c.586C>T, XM_005247086.1:c.586C>T, XM_006713485.5:c.586C>T, XM_006713485.4:c.586C>T, XM_006713485.3:c.586C>T, XM_006713485.2:c.586C>T, XM_006713485.1:c.586C>T, XM_005247088.5:c.586C>T, XM_005247088.4:c.586C>T, XM_005247088.3:c.586C>T, XM_005247088.2:c.586C>T, XM_005247088.1:c.586C>T, XM_011512369.4:c.586C>T, XM_011512369.3:c.586C>T, XM_011512369.2:c.586C>T, XM_011512369.1:c.586C>T, XM_011512368.4:c.586C>T, XM_011512368.3:c.586C>T, XM_011512368.2:c.586C>T, XM_011512368.1:c.586C>T, XM_017005644.3:c.586C>T, XM_017005644.2:c.586C>T, XM_017005644.1:c.586C>T, XM_047447374.1:c.586C>T, XM_047447375.1:c.586C>T, NP_009148.2:p.Arg196Ter, NP_665858.1:p.Arg196Ter, NP_665859.1:p.Arg196Ter, XP_005247144.1:p.Arg196Ter, XP_005247143.1:p.Arg196Ter, XP_006713548.1:p.Arg196Ter, XP_005247145.1:p.Arg196Ter, XP_011510671.1:p.Arg196Ter, XP_011510670.1:p.Arg196Ter, XP_016861133.1:p.Arg196Ter, XP_047303330.1:p.Arg196Ter, XP_047303331.1:p.Arg196Ter

                            14.

                            rs1401069631 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:167704886 (GRCh38)
                              3:167422674 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:167704885:C:T
                              Gene:
                              PDCD10 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000003.12:g.167704886C>T, NC_000003.11:g.167422674C>T, NG_008158.1:g.34978G>A, NM_007217.4:c.106G>A, NM_007217.3:c.106G>A, NM_145859.2:c.106G>A, NM_145859.1:c.106G>A, NM_145860.2:c.106G>A, NM_145860.1:c.106G>A, XM_005247087.6:c.106G>A, XM_005247087.5:c.106G>A, XM_005247087.4:c.106G>A, XM_005247087.3:c.106G>A, XM_005247087.2:c.106G>A, XM_005247087.1:c.106G>A, XM_005247086.6:c.106G>A, XM_005247086.5:c.106G>A, XM_005247086.4:c.106G>A, XM_005247086.3:c.106G>A, XM_005247086.2:c.106G>A, XM_005247086.1:c.106G>A, XM_006713485.5:c.106G>A, XM_006713485.4:c.106G>A, XM_006713485.3:c.106G>A, XM_006713485.2:c.106G>A, XM_006713485.1:c.106G>A, XM_005247088.5:c.106G>A, XM_005247088.4:c.106G>A, XM_005247088.3:c.106G>A, XM_005247088.2:c.106G>A, XM_005247088.1:c.106G>A, XM_011512369.4:c.106G>A, XM_011512369.3:c.106G>A, XM_011512369.2:c.106G>A, XM_011512369.1:c.106G>A, XM_011512368.4:c.106G>A, XM_011512368.3:c.106G>A, XM_011512368.2:c.106G>A, XM_011512368.1:c.106G>A, XM_017005644.3:c.106G>A, XM_017005644.2:c.106G>A, XM_017005644.1:c.106G>A, XM_047447374.1:c.106G>A, XM_047447375.1:c.106G>A, NP_009148.2:p.Val36Ile, NP_665858.1:p.Val36Ile, NP_665859.1:p.Val36Ile, XP_005247144.1:p.Val36Ile, XP_005247143.1:p.Val36Ile, XP_006713548.1:p.Val36Ile, XP_005247145.1:p.Val36Ile, XP_011510671.1:p.Val36Ile, XP_011510670.1:p.Val36Ile, XP_016861133.1:p.Val36Ile, XP_047303330.1:p.Val36Ile, XP_047303331.1:p.Val36Ile

                              15.

                              rs1399693030 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                3:167695617 (GRCh38)
                                3:167413405 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:167695616:A:T
                                Gene:
                                PDCD10 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.167695617A>T, NC_000003.11:g.167413405A>T, NG_008158.1:g.44247T>A, NM_007217.4:c.374T>A, NM_007217.3:c.374T>A, NM_145859.2:c.374T>A, NM_145859.1:c.374T>A, NM_145860.2:c.374T>A, NM_145860.1:c.374T>A, XM_005247087.6:c.374T>A, XM_005247087.5:c.374T>A, XM_005247087.4:c.374T>A, XM_005247087.3:c.374T>A, XM_005247087.2:c.374T>A, XM_005247087.1:c.374T>A, XM_005247086.6:c.374T>A, XM_005247086.5:c.374T>A, XM_005247086.4:c.374T>A, XM_005247086.3:c.374T>A, XM_005247086.2:c.374T>A, XM_005247086.1:c.374T>A, XM_006713485.5:c.374T>A, XM_006713485.4:c.374T>A, XM_006713485.3:c.374T>A, XM_006713485.2:c.374T>A, XM_006713485.1:c.374T>A, XM_005247088.5:c.374T>A, XM_005247088.4:c.374T>A, XM_005247088.3:c.374T>A, XM_005247088.2:c.374T>A, XM_005247088.1:c.374T>A, XM_011512369.4:c.374T>A, XM_011512369.3:c.374T>A, XM_011512369.2:c.374T>A, XM_011512369.1:c.374T>A, XM_011512368.4:c.374T>A, XM_011512368.3:c.374T>A, XM_011512368.2:c.374T>A, XM_011512368.1:c.374T>A, XM_017005644.3:c.374T>A, XM_017005644.2:c.374T>A, XM_017005644.1:c.374T>A, XM_047447374.1:c.374T>A, XM_047447375.1:c.374T>A, NP_009148.2:p.Val125Glu, NP_665858.1:p.Val125Glu, NP_665859.1:p.Val125Glu, XP_005247144.1:p.Val125Glu, XP_005247143.1:p.Val125Glu, XP_006713548.1:p.Val125Glu, XP_005247145.1:p.Val125Glu, XP_011510671.1:p.Val125Glu, XP_011510670.1:p.Val125Glu, XP_016861133.1:p.Val125Glu, XP_047303330.1:p.Val125Glu, XP_047303331.1:p.Val125Glu

                                16.

                                rs1398097709 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:167687683 (GRCh38)
                                  3:167405471 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:167687682:T:C
                                  Gene:
                                  PDCD10 (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)
                                  HGVS:
                                  NC_000003.12:g.167687683T>C, NC_000003.11:g.167405471T>C, NG_008158.1:g.52181A>G, NM_007217.4:c.406A>G, NM_007217.3:c.406A>G, NM_145859.2:c.406A>G, NM_145859.1:c.406A>G, NM_145860.2:c.406A>G, NM_145860.1:c.406A>G, XM_005247087.6:c.406A>G, XM_005247087.5:c.406A>G, XM_005247087.4:c.406A>G, XM_005247087.3:c.406A>G, XM_005247087.2:c.406A>G, XM_005247087.1:c.406A>G, XM_005247086.6:c.406A>G, XM_005247086.5:c.406A>G, XM_005247086.4:c.406A>G, XM_005247086.3:c.406A>G, XM_005247086.2:c.406A>G, XM_005247086.1:c.406A>G, XM_006713485.5:c.406A>G, XM_006713485.4:c.406A>G, XM_006713485.3:c.406A>G, XM_006713485.2:c.406A>G, XM_006713485.1:c.406A>G, XM_005247088.5:c.406A>G, XM_005247088.4:c.406A>G, XM_005247088.3:c.406A>G, XM_005247088.2:c.406A>G, XM_005247088.1:c.406A>G, XM_011512369.4:c.406A>G, XM_011512369.3:c.406A>G, XM_011512369.2:c.406A>G, XM_011512369.1:c.406A>G, XM_011512368.4:c.406A>G, XM_011512368.3:c.406A>G, XM_011512368.2:c.406A>G, XM_011512368.1:c.406A>G, XM_017005644.3:c.406A>G, XM_017005644.2:c.406A>G, XM_017005644.1:c.406A>G, XM_047447374.1:c.406A>G, XM_047447375.1:c.406A>G, NP_009148.2:p.Ser136Gly, NP_665858.1:p.Ser136Gly, NP_665859.1:p.Ser136Gly, XP_005247144.1:p.Ser136Gly, XP_005247143.1:p.Ser136Gly, XP_006713548.1:p.Ser136Gly, XP_005247145.1:p.Ser136Gly, XP_011510671.1:p.Ser136Gly, XP_011510670.1:p.Ser136Gly, XP_016861133.1:p.Ser136Gly, XP_047303330.1:p.Ser136Gly, XP_047303331.1:p.Ser136Gly

                                  17.

                                  rs1396385443 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:167684385 (GRCh38)
                                    3:167402173 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:167684384:T:C
                                    Gene:
                                    PDCD10 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.167684385T>C, NC_000003.11:g.167402173T>C, NG_008158.1:g.55479A>G, NM_007217.4:c.562A>G, NM_007217.3:c.562A>G, NM_145859.2:c.562A>G, NM_145859.1:c.562A>G, NM_145860.2:c.562A>G, NM_145860.1:c.562A>G, XM_005247087.6:c.562A>G, XM_005247087.5:c.562A>G, XM_005247087.4:c.562A>G, XM_005247087.3:c.562A>G, XM_005247087.2:c.562A>G, XM_005247087.1:c.562A>G, XM_005247086.6:c.562A>G, XM_005247086.5:c.562A>G, XM_005247086.4:c.562A>G, XM_005247086.3:c.562A>G, XM_005247086.2:c.562A>G, XM_005247086.1:c.562A>G, XM_006713485.5:c.562A>G, XM_006713485.4:c.562A>G, XM_006713485.3:c.562A>G, XM_006713485.2:c.562A>G, XM_006713485.1:c.562A>G, XM_005247088.5:c.562A>G, XM_005247088.4:c.562A>G, XM_005247088.3:c.562A>G, XM_005247088.2:c.562A>G, XM_005247088.1:c.562A>G, XM_011512369.4:c.562A>G, XM_011512369.3:c.562A>G, XM_011512369.2:c.562A>G, XM_011512369.1:c.562A>G, XM_011512368.4:c.562A>G, XM_011512368.3:c.562A>G, XM_011512368.2:c.562A>G, XM_011512368.1:c.562A>G, XM_017005644.3:c.562A>G, XM_017005644.2:c.562A>G, XM_017005644.1:c.562A>G, XM_047447374.1:c.562A>G, XM_047447375.1:c.562A>G, NP_009148.2:p.Ile188Val, NP_665858.1:p.Ile188Val, NP_665859.1:p.Ile188Val, XP_005247144.1:p.Ile188Val, XP_005247143.1:p.Ile188Val, XP_006713548.1:p.Ile188Val, XP_005247145.1:p.Ile188Val, XP_011510671.1:p.Ile188Val, XP_011510670.1:p.Ile188Val, XP_016861133.1:p.Ile188Val, XP_047303330.1:p.Ile188Val, XP_047303331.1:p.Ile188Val

                                    18.

                                    rs1387858930 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:167684368 (GRCh38)
                                      3:167402156 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:167684367:A:G
                                      Gene:
                                      PDCD10 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.167684368A>G, NC_000003.11:g.167402156A>G, NG_008158.1:g.55496T>C, NM_007217.4:c.579T>C, NM_007217.3:c.579T>C, NM_145859.2:c.579T>C, NM_145859.1:c.579T>C, NM_145860.2:c.579T>C, NM_145860.1:c.579T>C, XM_005247087.6:c.579T>C, XM_005247087.5:c.579T>C, XM_005247087.4:c.579T>C, XM_005247087.3:c.579T>C, XM_005247087.2:c.579T>C, XM_005247087.1:c.579T>C, XM_005247086.6:c.579T>C, XM_005247086.5:c.579T>C, XM_005247086.4:c.579T>C, XM_005247086.3:c.579T>C, XM_005247086.2:c.579T>C, XM_005247086.1:c.579T>C, XM_006713485.5:c.579T>C, XM_006713485.4:c.579T>C, XM_006713485.3:c.579T>C, XM_006713485.2:c.579T>C, XM_006713485.1:c.579T>C, XM_005247088.5:c.579T>C, XM_005247088.4:c.579T>C, XM_005247088.3:c.579T>C, XM_005247088.2:c.579T>C, XM_005247088.1:c.579T>C, XM_011512369.4:c.579T>C, XM_011512369.3:c.579T>C, XM_011512369.2:c.579T>C, XM_011512369.1:c.579T>C, XM_011512368.4:c.579T>C, XM_011512368.3:c.579T>C, XM_011512368.2:c.579T>C, XM_011512368.1:c.579T>C, XM_017005644.3:c.579T>C, XM_017005644.2:c.579T>C, XM_017005644.1:c.579T>C, XM_047447374.1:c.579T>C, XM_047447375.1:c.579T>C

                                      19.

                                      rs1377123695 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:167684382 (GRCh38)
                                        3:167402170 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:167684381:T:C
                                        Gene:
                                        PDCD10 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.167684382T>C, NC_000003.11:g.167402170T>C, NG_008158.1:g.55482A>G, NM_007217.4:c.565A>G, NM_007217.3:c.565A>G, NM_145859.2:c.565A>G, NM_145859.1:c.565A>G, NM_145860.2:c.565A>G, NM_145860.1:c.565A>G, XM_005247087.6:c.565A>G, XM_005247087.5:c.565A>G, XM_005247087.4:c.565A>G, XM_005247087.3:c.565A>G, XM_005247087.2:c.565A>G, XM_005247087.1:c.565A>G, XM_005247086.6:c.565A>G, XM_005247086.5:c.565A>G, XM_005247086.4:c.565A>G, XM_005247086.3:c.565A>G, XM_005247086.2:c.565A>G, XM_005247086.1:c.565A>G, XM_006713485.5:c.565A>G, XM_006713485.4:c.565A>G, XM_006713485.3:c.565A>G, XM_006713485.2:c.565A>G, XM_006713485.1:c.565A>G, XM_005247088.5:c.565A>G, XM_005247088.4:c.565A>G, XM_005247088.3:c.565A>G, XM_005247088.2:c.565A>G, XM_005247088.1:c.565A>G, XM_011512369.4:c.565A>G, XM_011512369.3:c.565A>G, XM_011512369.2:c.565A>G, XM_011512369.1:c.565A>G, XM_011512368.4:c.565A>G, XM_011512368.3:c.565A>G, XM_011512368.2:c.565A>G, XM_011512368.1:c.565A>G, XM_017005644.3:c.565A>G, XM_017005644.2:c.565A>G, XM_017005644.1:c.565A>G, XM_047447374.1:c.565A>G, XM_047447375.1:c.565A>G, NP_009148.2:p.Asn189Asp, NP_665858.1:p.Asn189Asp, NP_665859.1:p.Asn189Asp, XP_005247144.1:p.Asn189Asp, XP_005247143.1:p.Asn189Asp, XP_006713548.1:p.Asn189Asp, XP_005247145.1:p.Asn189Asp, XP_011510671.1:p.Asn189Asp, XP_011510670.1:p.Asn189Asp, XP_016861133.1:p.Asn189Asp, XP_047303330.1:p.Asn189Asp, XP_047303331.1:p.Asn189Asp

                                        20.

                                        rs1373187308 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:167704873 (GRCh38)
                                          3:167422661 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:167704872:G:A
                                          Gene:
                                          PDCD10 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000003.12:g.167704873G>A, NC_000003.11:g.167422661G>A, NG_008158.1:g.34991C>T, NM_007217.4:c.119C>T, NM_007217.3:c.119C>T, NM_145859.2:c.119C>T, NM_145859.1:c.119C>T, NM_145860.2:c.119C>T, NM_145860.1:c.119C>T, XM_005247087.6:c.119C>T, XM_005247087.5:c.119C>T, XM_005247087.4:c.119C>T, XM_005247087.3:c.119C>T, XM_005247087.2:c.119C>T, XM_005247087.1:c.119C>T, XM_005247086.6:c.119C>T, XM_005247086.5:c.119C>T, XM_005247086.4:c.119C>T, XM_005247086.3:c.119C>T, XM_005247086.2:c.119C>T, XM_005247086.1:c.119C>T, XM_006713485.5:c.119C>T, XM_006713485.4:c.119C>T, XM_006713485.3:c.119C>T, XM_006713485.2:c.119C>T, XM_006713485.1:c.119C>T, XM_005247088.5:c.119C>T, XM_005247088.4:c.119C>T, XM_005247088.3:c.119C>T, XM_005247088.2:c.119C>T, XM_005247088.1:c.119C>T, XM_011512369.4:c.119C>T, XM_011512369.3:c.119C>T, XM_011512369.2:c.119C>T, XM_011512369.1:c.119C>T, XM_011512368.4:c.119C>T, XM_011512368.3:c.119C>T, XM_011512368.2:c.119C>T, XM_011512368.1:c.119C>T, XM_017005644.3:c.119C>T, XM_017005644.2:c.119C>T, XM_017005644.1:c.119C>T, XM_047447374.1:c.119C>T, XM_047447375.1:c.119C>T, NP_009148.2:p.Ala40Val, NP_665858.1:p.Ala40Val, NP_665859.1:p.Ala40Val, XP_005247144.1:p.Ala40Val, XP_005247143.1:p.Ala40Val, XP_006713548.1:p.Ala40Val, XP_005247145.1:p.Ala40Val, XP_011510671.1:p.Ala40Val, XP_011510670.1:p.Ala40Val, XP_016861133.1:p.Ala40Val, XP_047303330.1:p.Ala40Val, XP_047303331.1:p.Ala40Val

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