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Links from Protein

Items: 1 to 20 of 292

1.

rs1490269081 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    9:83921554 (GRCh38)
    9:86536469 (GRCh37)
    Canonical SPDI:
    NC_000009.12:83921553:G:T
    Gene:
    KIF27 (Varview), LOC105376335 (Varview)
    Functional Consequence:
    coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1488945409 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      9:83920927 (GRCh38)
      9:86535843 (GRCh37)
      Canonical SPDI:
      NC_000009.12:83920927:GGG:GGGG
      Gene:
      KIF27 (Varview), LOC105376335 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
      Validated:
      by frequency,by alfa
      MAF:
      GGGG=0./0 (ALFA)
      G=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1480543452 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:83924668 (GRCh38)
        9:86539583 (GRCh37)
        Canonical SPDI:
        NC_000009.12:83924667:C:T
        Gene:
        LOC105376335 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1478635917 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:83921179 (GRCh38)
          9:86536094 (GRCh37)
          Canonical SPDI:
          NC_000009.12:83921178:C:T
          Gene:
          KIF27 (Varview), LOC105376335 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1476571093 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            9:83921231 (GRCh38)
            9:86536146 (GRCh37)
            Canonical SPDI:
            NC_000009.12:83921230:G:C
            Gene:
            KIF27 (Varview), LOC105376335 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1475008550 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              9:83924666 (GRCh38)
              9:86539581 (GRCh37)
              Canonical SPDI:
              NC_000009.12:83924665:G:T
              Gene:
              LOC105376335 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1474222161 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:83920968 (GRCh38)
                9:86535883 (GRCh37)
                Canonical SPDI:
                NC_000009.12:83920967:G:A
                Gene:
                KIF27 (Varview), LOC105376335 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1471924465 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:83921547 (GRCh38)
                  9:86536462 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:83921546:T:C
                  Gene:
                  KIF27 (Varview), LOC105376335 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1469783473 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    9:83921629 (GRCh38)
                    9:86536544 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:83921628:A:T
                    Gene:
                    KIF27 (Varview), LOC105376335 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1462658629 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      9:83920906 (GRCh38)
                      9:86535821 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:83920905:C:G,NC_000009.12:83920905:C:T
                      Gene:
                      KIF27 (Varview), LOC105376335 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000009.12:g.83920906C>G, NC_000009.12:g.83920906C>T, NC_000009.11:g.86535821C>G, NC_000009.11:g.86535821C>T, XM_011518854.3:c.-328G>C, XM_011518854.3:c.-328G>A, XM_011518854.2:c.-328G>C, XM_011518854.2:c.-328G>A, XM_011518856.3:c.-328G>C, XM_011518856.3:c.-328G>A, XM_011518856.2:c.-328G>C, XM_011518856.2:c.-328G>A, XM_017014903.2:c.-328G>C, XM_017014903.2:c.-328G>A, XM_017014903.1:c.-328G>C, XM_017014903.1:c.-328G>A, XM_017014905.2:c.-328G>C, XM_017014905.2:c.-328G>A, XM_017014905.1:c.-328G>C, XM_017014905.1:c.-328G>A, XM_017014906.2:c.-328G>C, XM_017014906.2:c.-328G>A, XM_017014906.1:c.-328G>C, XM_017014906.1:c.-328G>A, XM_017014900.2:c.-328G>C, XM_017014900.2:c.-328G>A, XM_017014900.1:c.-328G>C, XM_017014900.1:c.-328G>A, XM_011519284.2:c.6C>G, XM_011519284.2:c.6C>T, XM_011519284.1:c.6C>G, XM_011519284.1:c.6C>T, XM_047423570.1:c.-328G>C, XM_047423570.1:c.-328G>A, XM_047423572.1:c.-221G>C, XM_047423572.1:c.-221G>A, XM_047423571.1:c.-328G>C, XM_047423571.1:c.-328G>A, XM_047423574.1:c.-221G>C, XM_047423574.1:c.-221G>A, XR_007061328.1:n.527G>C, XR_007061328.1:n.527G>A
                      12.

                      rs1459625948 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        9:83921544 (GRCh38)
                        9:86536459 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:83921543:T:
                        Gene:
                        KIF27 (Varview), LOC105376335 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        13.
                        14.

                        rs1455672336 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          9:83921581 (GRCh38)
                          9:86536496 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:83921580:T:A
                          Gene:
                          KIF27 (Varview), LOC105376335 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000023/6 (TOPMED)
                          A=0.000029/4 (GnomAD)
                          HGVS:
                          15.

                          rs1454120858 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            9:83920926 (GRCh38)
                            9:86535842 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:83920926:T:TT
                            Gene:
                            KIF27 (Varview), LOC105376335 (Varview)
                            Functional Consequence:
                            frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TT=0.00025/3 (ALFA)
                            HGVS:
                            16.

                            rs1452260428 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              9:83921188 (GRCh38)
                              9:86536103 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:83921187:C:A
                              Gene:
                              KIF27 (Varview), LOC105376335 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              17.

                              rs1450935911 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                9:83921640 (GRCh38)
                                9:86536555 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:83921639:T:C,NC_000009.12:83921639:T:G
                                Gene:
                                KIF27 (Varview), LOC105376335 (Varview)
                                Functional Consequence:
                                missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                18.

                                rs1448418637 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:83921187 (GRCh38)
                                  9:86536102 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:83921186:G:A
                                  Gene:
                                  KIF27 (Varview), LOC105376335 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1446629242 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:83921361 (GRCh38)
                                    9:86536276 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:83921360:G:A
                                    Gene:
                                    KIF27 (Varview), LOC105376335 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/1 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1443740891 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:83920960 (GRCh38)
                                      9:86535875 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:83920959:T:C
                                      Gene:
                                      KIF27 (Varview), LOC105376335 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:

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