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Items: 1 to 20 of 399

1.

rs1490559478 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:82824960 (GRCh38)
    11:82536002 (GRCh37)
    Canonical SPDI:
    NC_000011.10:82824959:T:C
    Gene:
    PRCP (Varview), LINC02734 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.

    rs1483399926 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:82849068 (GRCh38)
      11:82560110 (GRCh37)
      Canonical SPDI:
      NC_000011.10:82849067:A:G
      Gene:
      PRCP (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      4.

      rs1483168362 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        11:82825024 (GRCh38)
        11:82536066 (GRCh37)
        Canonical SPDI:
        NC_000011.10:82825023:T:C
        Gene:
        PRCP (Varview), LINC02734 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000011/3 (TOPMED)
        HGVS:
        5.

        rs1479445581 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:82849180 (GRCh38)
          11:82560222 (GRCh37)
          Canonical SPDI:
          NC_000011.10:82849179:A:G
          Gene:
          PRCP (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1479343156 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:82853183 (GRCh38)
            11:82564225 (GRCh37)
            Canonical SPDI:
            NC_000011.10:82853182:T:C
            Gene:
            PRCP (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000028/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            7.

            rs1465379240 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:82825102 (GRCh38)
              11:82536144 (GRCh37)
              Canonical SPDI:
              NC_000011.10:82825101:C:T
              Gene:
              PRCP (Varview), LINC02734 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              8.

              rs1463876596 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:82839352 (GRCh38)
                11:82550394 (GRCh37)
                Canonical SPDI:
                NC_000011.10:82839351:T:C
                Gene:
                PRCP (Varview), LINC02734 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                9.

                rs1461709441 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:82849095 (GRCh38)
                  11:82560137 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:82849094:G:A
                  Gene:
                  PRCP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  10.

                  rs1461659824 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    11:82853198 (GRCh38)
                    11:82564240 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:82853197:G:C
                    Gene:
                    PRCP (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1460439277 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      11:82824989 (GRCh38)
                      11:82536031 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:82824986:CACA:CA
                      Gene:
                      PRCP (Varview), LINC02734 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CACA=0./0 (ALFA)
                      HGVS:
                      12.

                      rs1460240727 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:82838524 (GRCh38)
                        11:82549566 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:82838523:C:T
                        Gene:
                        PRCP (Varview), LINC02734 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000007/1 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        13.

                        rs1457626442 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:82825120 (GRCh38)
                          11:82536162 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:82825119:T:C
                          Gene:
                          PRCP (Varview), LINC02734 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1452900998 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            11:82838451 (GRCh38)
                            11:82549493 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:82838450:G:C
                            Gene:
                            PRCP (Varview), LINC02734 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1452449321 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:82849964 (GRCh38)
                              11:82561006 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:82849963:G:A
                              Gene:
                              PRCP (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              16.

                              rs1451852190 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:82849056 (GRCh38)
                                11:82560098 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:82849055:G:A
                                Gene:
                                PRCP (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000028/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1449955896 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:82838421 (GRCh38)
                                  11:82549463 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:82838420:T:C
                                  Gene:
                                  PRCP (Varview), LINC02734 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000019/5 (TOPMED)
                                  C=0.000043/6 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1449121974 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    11:82850394 (GRCh38)
                                    11:82561436 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:82850393:C:A
                                    Gene:
                                    PRCP (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1445672845 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:82850415 (GRCh38)
                                      11:82561457 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:82850414:C:T
                                      Gene:
                                      PRCP (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1439189258 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C,G [Show Flanks]
                                        Chromosome:
                                        11:82853265 (GRCh38)
                                        11:82564307 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:82853264:T:A,NC_000011.10:82853264:T:C,NC_000011.10:82853264:T:G
                                        Gene:
                                        PRCP (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.82853265T>A, NC_000011.10:g.82853265T>C, NC_000011.10:g.82853265T>G, NC_000011.9:g.82564307T>A, NC_000011.9:g.82564307T>C, NC_000011.9:g.82564307T>G, NM_199418.4:c.386A>T, NM_199418.4:c.386A>G, NM_199418.4:c.386A>C, NM_199418.3:c.386A>T, NM_199418.3:c.386A>G, NM_199418.3:c.386A>C, NM_199418.2:c.386A>T, NM_199418.2:c.386A>G, NM_199418.2:c.386A>C, NM_005040.4:c.323A>T, NM_005040.4:c.323A>G, NM_005040.4:c.323A>C, NM_005040.3:c.323A>T, NM_005040.3:c.323A>G, NM_005040.3:c.323A>C, NM_005040.2:c.323A>T, NM_005040.2:c.323A>G, NM_005040.2:c.323A>C, XM_005274093.2:c.8A>T, XM_005274093.2:c.8A>G, XM_005274093.2:c.8A>C, XM_005274093.1:c.8A>T, XM_005274093.1:c.8A>G, XM_005274093.1:c.8A>C, NM_001319214.2:c.8A>T, NM_001319214.2:c.8A>G, NM_001319214.2:c.8A>C, NM_001319214.1:c.8A>T, NM_001319214.1:c.8A>G, NM_001319214.1:c.8A>C, NP_955450.2:p.Asp129Val, NP_955450.2:p.Asp129Gly, NP_955450.2:p.Asp129Ala, NP_005031.1:p.Asp108Val, NP_005031.1:p.Asp108Gly, NP_005031.1:p.Asp108Ala, XP_005274150.1:p.Asp3Val, XP_005274150.1:p.Asp3Gly, XP_005274150.1:p.Asp3Ala, NP_001306143.1:p.Asp3Val, NP_001306143.1:p.Asp3Gly, NP_001306143.1:p.Asp3Ala

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