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Links from Protein

Items: 1 to 20 of 301

2.

rs1471888954 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    3:112845686 (GRCh38)
    3:112564533 (GRCh37)
    Canonical SPDI:
    NC_000003.12:112845685:C:A
    Gene:
    CD200R1L (Varview)
    Functional Consequence:
    5_prime_UTR_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.

    rs1470415002 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:112827485 (GRCh38)
      3:112546332 (GRCh37)
      Canonical SPDI:
      NC_000003.12:112827484:A:G
      Gene:
      CD200R1L (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_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=0.000007/1 (GnomAD)
      HGVS:
      4.

      rs1466807828 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGATC>- [Show Flanks]
        Chromosome:
        3:112827480 (GRCh38)
        3:112546327 (GRCh37)
        Canonical SPDI:
        NC_000003.12:112827477:TCTGATC:TC
        Gene:
        CD200R1L (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TC=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        5.

        rs1466628456 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:112819847 (GRCh38)
          3:112538694 (GRCh37)
          Canonical SPDI:
          NC_000003.12:112819846:T:C
          Gene:
          CD200R1L (Varview), CD200R1L-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1465415414 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            3:112827587 (GRCh38)
            3:112546434 (GRCh37)
            Canonical SPDI:
            NC_000003.12:112827586:G:T
            Gene:
            CD200R1L (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            7.

            rs1462822355 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:112827170 (GRCh38)
              3:112546017 (GRCh37)
              Canonical SPDI:
              NC_000003.12:112827169:C:T
              Gene:
              CD200R1L (Varview)
              Functional Consequence:
              missense_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)
              T=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1460268762 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:112827540 (GRCh38)
                3:112546387 (GRCh37)
                Canonical SPDI:
                NC_000003.12:112827539:T:C
                Gene:
                CD200R1L (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                9.

                rs1453190107 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  3:112827441 (GRCh38)
                  3:112546288 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:112827440:T:G
                  Gene:
                  CD200R1L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000111/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  10.

                  rs1451722608 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:112819811 (GRCh38)
                    3:112538658 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:112819810:G:A
                    Gene:
                    CD200R1L (Varview), CD200R1L-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1451563801 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      3:112827512 (GRCh38)
                      3:112546359 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:112827511:A:T
                      Gene:
                      CD200R1L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      13.

                      rs1450392737 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        3:112829353 (GRCh38)
                        3:112548200 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:112829352:C:A
                        Gene:
                        CD200R1L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        15.
                        16.

                        rs1438998300 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:112827406 (GRCh38)
                          3:112546253 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:112827405:C:A
                          Gene:
                          CD200R1L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          17.

                          rs1432794371 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:112827645 (GRCh38)
                            3:112546492 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:112827644:A:G
                            Gene:
                            CD200R1L (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            18.

                            rs1431852469 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              3:112827224 (GRCh38)
                              3:112546071 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:112827223:G:C
                              Gene:
                              CD200R1L (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              19.

                              rs1431039706 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:112827657 (GRCh38)
                                3:112546504 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:112827656:T:C
                                Gene:
                                CD200R1L (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                20.

                                rs1430781367 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:112827554 (GRCh38)
                                  3:112546401 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:112827553:G:A
                                  Gene:
                                  CD200R1L (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000684/2 (KOREAN)
                                  HGVS:

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