Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 200

1.

rs780735154 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:165464579 (GRCh38)
    4:166385731 (GRCh37)
    Canonical SPDI:
    NC_000004.12:165464578:C:T
    Gene:
    CPE (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000009/1 (ExAC)
    T=0.000012/3 (GnomAD_exomes)
    T=0.000034/9 (TOPMED)
    T=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs780646997 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      4:165464395 (GRCh38)
      4:166385547 (GRCh37)
      Canonical SPDI:
      NC_000004.12:165464394:C:G,NC_000004.12:165464394:C:T
      Gene:
      CPE (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      T=0.000009/1 (ExAC)
      HGVS:
      3.

      rs779696926 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        4:165379477 (GRCh38)
        4:166300629 (GRCh37)
        Canonical SPDI:
        NC_000004.12:165379476:C:G
        Gene:
        CPE (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000009/2 (GnomAD_exomes)
        G=0.000011/1 (ExAC)
        HGVS:
        4.

        rs779599546 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:165487529 (GRCh38)
          4:166408681 (GRCh37)
          Canonical SPDI:
          NC_000004.12:165487528:G:A
          Gene:
          CPE (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/1 (ExAC)
          HGVS:
          5.

          rs779053382 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            4:165467848 (GRCh38)
            4:166389000 (GRCh37)
            Canonical SPDI:
            NC_000004.12:165467847:A:G
            Gene:
            CPE (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000014/2 (GnomAD)
            G=0.000025/3 (ExAC)
            G=0.000028/7 (GnomAD_exomes)
            HGVS:
            6.

            rs779028434 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:165379457 (GRCh38)
              4:166300609 (GRCh37)
              Canonical SPDI:
              NC_000004.12:165379456:T:C
              Gene:
              CPE (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000008/2 (GnomAD_exomes)
              C=0.00001/1 (ExAC)
              HGVS:
              7.

              rs778955407 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:165467773 (GRCh38)
                4:166388925 (GRCh37)
                Canonical SPDI:
                NC_000004.12:165467772:T:C
                Gene:
                CPE (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.00003/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/1 (ExAC)
                C=0.000011/3 (TOPMED)
                C=0.000012/3 (GnomAD_exomes)
                HGVS:
                8.

                rs778940259 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  4:165379308 (GRCh38)
                  4:166300460 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:165379307:G:A,NC_000004.12:165379307:G:C,NC_000004.12:165379307:G:T
                  Gene:
                  CPE (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD_exomes)
                  A=0.000014/2 (GnomAD)
                  C=0.000079/1 (ExAC)
                  HGVS:
                  9.

                  rs778191319 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:165484538 (GRCh38)
                    4:166405690 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:165484537:A:G
                    Gene:
                    CPE (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000094/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000008/1 (ExAC)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs778095440 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C,T [Show Flanks]
                      Chromosome:
                      4:165467750 (GRCh38)
                      4:166388902 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:165467749:G:C,NC_000004.12:165467749:G:T
                      Gene:
                      CPE (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by cluster
                      HGVS:
                      11.

                      rs776399312 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        4:165493218 (GRCh38)
                        4:166414370 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:165493217:A:C
                        Gene:
                        CPE (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/1 (ExAC)
                        HGVS:
                        12.

                        rs776287792 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          4:165379495 (GRCh38)
                          4:166300647 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:165379494:G:C
                          Gene:
                          CPE (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000009/2 (GnomAD_exomes)
                          C=0.000023/2 (ExAC)
                          HGVS:
                          13.

                          rs775998001 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            4:165379397 (GRCh38)
                            4:166300549 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:165379396:T:A
                            Gene:
                            CPE (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000013/1 (ExAC)
                            HGVS:
                            14.

                            rs775810485 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:165484573 (GRCh38)
                              4:166405725 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:165484572:C:T
                              Gene:
                              CPE (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000025/3 (ExAC)
                              T=0.000048/12 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs775722708 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                4:165484504 (GRCh38)
                                4:166405656 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:165484503:C:A
                                Gene:
                                CPE (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000016/4 (GnomAD_exomes)
                                A=0.000033/4 (ExAC)
                                HGVS:
                                16.

                                rs775252838 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:165379360 (GRCh38)
                                  4:166300512 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:165379359:G:A
                                  Gene:
                                  CPE (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000005/1 (GnomAD_exomes)
                                  A=0.00002/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs775247571 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    4:165493200 (GRCh38)
                                    4:166414352 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:165493199:A:G,NC_000004.12:165493199:A:T
                                    Gene:
                                    CPE (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000008/1 (ExAC)
                                    HGVS:
                                    18.

                                    rs774981303 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      4:165495608 (GRCh38)
                                      4:166416760 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:165495607:T:G
                                      Gene:
                                      CPE (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000008/1 (ExAC)
                                      HGVS:
                                      19.

                                      rs774863176 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:165482279 (GRCh38)
                                        4:166403431 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:165482278:T:C
                                        Gene:
                                        CPE (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/1 (ExAC)
                                        C=0.000008/2 (GnomAD_exomes)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs774780895 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          4:165484544 (GRCh38)
                                          4:166405696 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:165484543:G:A,NC_000004.12:165484543:G:T
                                          Gene:
                                          CPE (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=0.000007/1 (GnomAD)
                                          T=0.000008/1 (ExAC)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...
                                          Support Center