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Links from Protein

Items: 1 to 20 of 619

1.

rs1490546734 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:160357095 (GRCh38)
    1:160326885 (GRCh37)
    Canonical SPDI:
    NC_000001.11:160357094:C:T
    Gene:
    NCSTN (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.

    rs1485930779 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:160356705 (GRCh38)
      1:160326495 (GRCh37)
      Canonical SPDI:
      NC_000001.11:160356704:C:T
      Gene:
      NCSTN (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      4.

      rs1485474249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:160351258 (GRCh38)
        1:160321048 (GRCh37)
        Canonical SPDI:
        NC_000001.11:160351257:G:C
        Gene:
        NCSTN (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        7.

        rs1482312986 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:160355935 (GRCh38)
          1:160325725 (GRCh37)
          Canonical SPDI:
          NC_000001.11:160355934:A:G
          Gene:
          NCSTN (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          9.

          rs1480277499 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            1:160358158 (GRCh38)
            1:160327948 (GRCh37)
            Canonical SPDI:
            NC_000001.11:160358157:C:G
            Gene:
            NCSTN (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000008/2 (TOPMED)
            HGVS:
            10.

            rs1477861925 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:160354144 (GRCh38)
              1:160323934 (GRCh37)
              Canonical SPDI:
              NC_000001.11:160354143:G:A
              Gene:
              NCSTN (Varview)
              Functional Consequence:
              synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              12.

              rs1477528445 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TGAAGAGGACCTGAACTTTGTAAC [Show Flanks]
                Chromosome:
                1:160355719 (GRCh38)
                1:160325510 (GRCh37)
                Canonical SPDI:
                NC_000001.11:160355719:CTGAAGAGGACCTGAACTTTGTAAC:CTGAAGAGGACCTGAACTTTGTAACTGAAGAGGACCTGAACTTTGTAAC
                Gene:
                NCSTN (Varview)
                Functional Consequence:
                inframe_insertion,coding_sequence_variant,genic_downstream_transcript_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CTGAAGAGGACCTGAACTTTGTAACTGAAGAGGACCTGAACTTTGTAAC=0.000071/1 (ALFA)
                CTGAAGAGGACCTGAACTTTGTAA=0.000004/1 (TOPMED)
                CTGAAGAGGACCTGAACTTTGTAA=0.000008/2 (GnomAD_exomes)
                HGVS:
                13.

                rs1470723159 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:160358181 (GRCh38)
                  1:160327971 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:160358180:C:T
                  Gene:
                  NCSTN (Varview)
                  Functional Consequence:
                  synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  14.

                  rs1469834554 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:160357159 (GRCh38)
                    1:160326949 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:160357158:G:A
                    Gene:
                    NCSTN (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    15.

                    rs1465314988 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:160355660 (GRCh38)
                      1:160325450 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:160355659:A:G
                      Gene:
                      NCSTN (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      16.

                      rs1464954864 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:160354259 (GRCh38)
                        1:160324049 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:160354258:C:G
                        Gene:
                        NCSTN (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        17.

                        rs1463308762 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:160357110 (GRCh38)
                          1:160326900 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:160357109:C:T
                          Gene:
                          NCSTN (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          18.
                          19.

                          rs1460776609 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:160355740 (GRCh38)
                            1:160325530 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:160355739:G:A
                            Gene:
                            NCSTN (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            G=0.5/1 (SGDP_PRJ)
                            HGVS:
                            20.

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