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Items: 1 to 20 of 3412

1.

rs1490578616 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    11:92844431 (GRCh38)
    11:92577597 (GRCh37)
    Canonical SPDI:
    NC_000011.10:92844430:C:A
    Gene:
    FAT3 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:

    2.

    rs1490545285 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:92831873 (GRCh38)
      11:92565039 (GRCh37)
      Canonical SPDI:
      NC_000011.10:92831872:G:A
      Gene:
      FAT3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000111/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.92831873G>A, NC_000011.9:g.92565039G>A, NG_052813.1:g.612238G>A, NM_001008781.3:c.9733G>A, NM_001008781.2:c.9733G>A, NM_001367949.2:c.9733G>A, NM_001367949.1:c.9733G>A, XM_017017179.3:c.9802G>A, XM_017017179.2:c.9802G>A, XM_017017179.1:c.9802G>A, XM_017017178.3:c.9802G>A, XM_017017178.2:c.9802G>A, XM_017017178.1:c.9802G>A, XM_017017182.3:c.9802G>A, XM_017017182.2:c.9802G>A, XM_017017182.1:c.9802G>A, XM_017017184.3:c.9802G>A, XM_017017184.2:c.9802G>A, XM_017017184.1:c.9802G>A, XM_017017185.2:c.6586G>A, XM_017017185.1:c.6586G>A, XM_017017187.2:c.6472G>A, XM_017017187.1:c.6472G>A, XM_017017180.2:c.9802G>A, XM_017017180.1:c.9802G>A, XM_017017186.2:c.6472G>A, XM_017017186.1:c.6472G>A, XM_047426353.1:c.9802G>A, NP_001008781.2:p.Val3245Met, NP_001354878.1:p.Val3245Met, XP_016872668.1:p.Val3268Met, XP_016872667.1:p.Val3268Met, XP_016872671.1:p.Val3268Met, XP_016872673.1:p.Val3268Met, XP_016872674.1:p.Val2196Met, XP_016872676.1:p.Val2158Met, XP_016872669.1:p.Val3268Met, XP_016872675.1:p.Val2158Met, XP_047282309.1:p.Val3268Met

      3.

      rs1490512080 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        11:92789958 (GRCh38)
        11:92523124 (GRCh37)
        Canonical SPDI:
        NC_000011.10:92789957:C:A
        Gene:
        FAT3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.92789958C>A, NC_000011.9:g.92523124C>A, NG_052813.1:g.570323C>A, NM_001008781.3:c.4351C>A, NM_001008781.2:c.4351C>A, NM_001367949.2:c.4351C>A, NM_001367949.1:c.4351C>A, XM_017017179.3:c.4420C>A, XM_017017179.2:c.4420C>A, XM_017017179.1:c.4420C>A, XM_017017178.3:c.4420C>A, XM_017017178.2:c.4420C>A, XM_017017178.1:c.4420C>A, XM_017017182.3:c.4420C>A, XM_017017182.2:c.4420C>A, XM_017017182.1:c.4420C>A, XM_017017184.3:c.4420C>A, XM_017017184.2:c.4420C>A, XM_017017184.1:c.4420C>A, XM_017017185.2:c.1204C>A, XM_017017185.1:c.1204C>A, XM_017017187.2:c.1090C>A, XM_017017187.1:c.1090C>A, XM_017017180.2:c.4420C>A, XM_017017180.1:c.4420C>A, XM_017017186.2:c.1090C>A, XM_017017186.1:c.1090C>A, XM_047426353.1:c.4420C>A, NP_001008781.2:p.Leu1451Met, NP_001354878.1:p.Leu1451Met, XP_016872668.1:p.Leu1474Met, XP_016872667.1:p.Leu1474Met, XP_016872671.1:p.Leu1474Met, XP_016872673.1:p.Leu1474Met, XP_016872674.1:p.Leu402Met, XP_016872676.1:p.Leu364Met, XP_016872669.1:p.Leu1474Met, XP_016872675.1:p.Leu364Met, XP_047282309.1:p.Leu1474Met

        4.

        rs1490391681 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          11:92890949 (GRCh38)
          11:92624115 (GRCh37)
          Canonical SPDI:
          NC_000011.10:92890948:C:G,NC_000011.10:92890948:C:T
          Gene:
          FAT3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.92890949C>G, NC_000011.10:g.92890949C>T, NC_000011.9:g.92624115C>G, NC_000011.9:g.92624115C>T, NG_052813.1:g.671314C>G, NG_052813.1:g.671314C>T, NM_001008781.3:c.13510C>G, NM_001008781.3:c.13510C>T, NM_001008781.2:c.13510C>G, NM_001008781.2:c.13510C>T, NM_001367949.2:c.13606C>G, NM_001367949.2:c.13606C>T, NM_001367949.1:c.13606C>G, NM_001367949.1:c.13606C>T, XM_017017179.3:c.13675C>G, XM_017017179.3:c.13675C>T, XM_017017179.2:c.13675C>G, XM_017017179.2:c.13675C>T, XM_017017179.1:c.13675C>G, XM_017017179.1:c.13675C>T, XM_017017178.3:c.13675C>G, XM_017017178.3:c.13675C>T, XM_017017178.2:c.13675C>G, XM_017017178.2:c.13675C>T, XM_017017178.1:c.13675C>G, XM_017017178.1:c.13675C>T, XM_017017182.3:c.13579C>G, XM_017017182.3:c.13579C>T, XM_017017182.2:c.13579C>G, XM_017017182.2:c.13579C>T, XM_017017182.1:c.13579C>G, XM_017017182.1:c.13579C>T, XM_017017185.2:c.10459C>G, XM_017017185.2:c.10459C>T, XM_017017185.1:c.10459C>G, XM_017017185.1:c.10459C>T, XM_017017187.2:c.10345C>G, XM_017017187.2:c.10345C>T, XM_017017187.1:c.10345C>G, XM_017017187.1:c.10345C>T, XM_017017180.2:c.13615C>G, XM_017017180.2:c.13615C>T, XM_017017180.1:c.13615C>G, XM_017017180.1:c.13615C>T, XM_017017186.2:c.10345C>G, XM_017017186.2:c.10345C>T, XM_017017186.1:c.10345C>G, XM_017017186.1:c.10345C>T, XM_047426353.1:c.13675C>G, XM_047426353.1:c.13675C>T, NP_001008781.2:p.Leu4504Val, NP_001354878.1:p.Leu4536Val, XP_016872668.1:p.Leu4559Val, XP_016872667.1:p.Leu4559Val, XP_016872671.1:p.Leu4527Val, XP_016872674.1:p.Leu3487Val, XP_016872676.1:p.Leu3449Val, XP_016872669.1:p.Leu4539Val, XP_016872675.1:p.Leu3449Val, XP_047282309.1:p.Leu4559Val

          5.

          rs1490222198 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:92836639 (GRCh38)
            11:92569805 (GRCh37)
            Canonical SPDI:
            NC_000011.10:92836638:A:G
            Gene:
            FAT3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.92836639A>G, NC_000011.9:g.92569805A>G, NG_052813.1:g.617004A>G, NM_001008781.3:c.10160A>G, NM_001008781.2:c.10160A>G, NM_001367949.2:c.10160A>G, NM_001367949.1:c.10160A>G, XM_017017179.3:c.10229A>G, XM_017017179.2:c.10229A>G, XM_017017179.1:c.10229A>G, XM_017017178.3:c.10229A>G, XM_017017178.2:c.10229A>G, XM_017017178.1:c.10229A>G, XM_017017182.3:c.10229A>G, XM_017017182.2:c.10229A>G, XM_017017182.1:c.10229A>G, XM_017017184.3:c.10229A>G, XM_017017184.2:c.10229A>G, XM_017017184.1:c.10229A>G, XM_017017185.2:c.7013A>G, XM_017017185.1:c.7013A>G, XM_017017187.2:c.6899A>G, XM_017017187.1:c.6899A>G, XM_017017180.2:c.10229A>G, XM_017017180.1:c.10229A>G, XM_017017186.2:c.6899A>G, XM_017017186.1:c.6899A>G, XM_047426353.1:c.10229A>G, NP_001008781.2:p.Asn3387Ser, NP_001354878.1:p.Asn3387Ser, XP_016872668.1:p.Asn3410Ser, XP_016872667.1:p.Asn3410Ser, XP_016872671.1:p.Asn3410Ser, XP_016872673.1:p.Asn3410Ser, XP_016872674.1:p.Asn2338Ser, XP_016872676.1:p.Asn2300Ser, XP_016872669.1:p.Asn3410Ser, XP_016872675.1:p.Asn2300Ser, XP_047282309.1:p.Asn3410Ser

            6.

            rs1490182173 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:92797955 (GRCh38)
              11:92531121 (GRCh37)
              Canonical SPDI:
              NC_000011.10:92797954:T:C
              Gene:
              FAT3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.012/22 (Korea1K)
              HGVS:
              NC_000011.10:g.92797955T>C, NC_000011.9:g.92531121T>C, NG_052813.1:g.578320T>C, NM_001008781.3:c.4942T>C, NM_001008781.2:c.4942T>C, NM_001367949.2:c.4942T>C, NM_001367949.1:c.4942T>C, XM_017017179.3:c.5011T>C, XM_017017179.2:c.5011T>C, XM_017017179.1:c.5011T>C, XM_017017178.3:c.5011T>C, XM_017017178.2:c.5011T>C, XM_017017178.1:c.5011T>C, XM_017017182.3:c.5011T>C, XM_017017182.2:c.5011T>C, XM_017017182.1:c.5011T>C, XM_017017184.3:c.5011T>C, XM_017017184.2:c.5011T>C, XM_017017184.1:c.5011T>C, XM_017017185.2:c.1795T>C, XM_017017185.1:c.1795T>C, XM_017017187.2:c.1681T>C, XM_017017187.1:c.1681T>C, XM_017017180.2:c.5011T>C, XM_017017180.1:c.5011T>C, XM_017017186.2:c.1681T>C, XM_017017186.1:c.1681T>C, XM_047426353.1:c.5011T>C, NP_001008781.2:p.Ser1648Pro, NP_001354878.1:p.Ser1648Pro, XP_016872668.1:p.Ser1671Pro, XP_016872667.1:p.Ser1671Pro, XP_016872671.1:p.Ser1671Pro, XP_016872673.1:p.Ser1671Pro, XP_016872674.1:p.Ser599Pro, XP_016872676.1:p.Ser561Pro, XP_016872669.1:p.Ser1671Pro, XP_016872675.1:p.Ser561Pro, XP_047282309.1:p.Ser1671Pro

              7.

              rs1489776709 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                11:92883239 (GRCh38)
                11:92616405 (GRCh37)
                Canonical SPDI:
                NC_000011.10:92883238:G:A,NC_000011.10:92883238:G:C
                Gene:
                FAT3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000011.10:g.92883239G>A, NC_000011.10:g.92883239G>C, NC_000011.9:g.92616405G>A, NC_000011.9:g.92616405G>C, NG_052813.1:g.663604G>A, NG_052813.1:g.663604G>C, NM_001008781.3:c.12783G>A, NM_001008781.3:c.12783G>C, NM_001008781.2:c.12783G>A, NM_001008781.2:c.12783G>C, NM_001367949.2:c.12783G>A, NM_001367949.2:c.12783G>C, NM_001367949.1:c.12783G>A, NM_001367949.1:c.12783G>C, XM_017017179.3:c.12852G>A, XM_017017179.3:c.12852G>C, XM_017017179.2:c.12852G>A, XM_017017179.2:c.12852G>C, XM_017017179.1:c.12852G>A, XM_017017179.1:c.12852G>C, XM_017017178.3:c.12852G>A, XM_017017178.3:c.12852G>C, XM_017017178.2:c.12852G>A, XM_017017178.2:c.12852G>C, XM_017017178.1:c.12852G>A, XM_017017178.1:c.12852G>C, XM_017017182.3:c.12852G>A, XM_017017182.3:c.12852G>C, XM_017017182.2:c.12852G>A, XM_017017182.2:c.12852G>C, XM_017017182.1:c.12852G>A, XM_017017182.1:c.12852G>C, XM_017017184.3:c.12852G>A, XM_017017184.3:c.12852G>C, XM_017017184.2:c.12852G>A, XM_017017184.2:c.12852G>C, XM_017017184.1:c.12852G>A, XM_017017184.1:c.12852G>C, XM_017017185.2:c.9636G>A, XM_017017185.2:c.9636G>C, XM_017017185.1:c.9636G>A, XM_017017185.1:c.9636G>C, XM_017017187.2:c.9522G>A, XM_017017187.2:c.9522G>C, XM_017017187.1:c.9522G>A, XM_017017187.1:c.9522G>C, XM_017017180.2:c.12852G>A, XM_017017180.2:c.12852G>C, XM_017017180.1:c.12852G>A, XM_017017180.1:c.12852G>C, XM_017017186.2:c.9522G>A, XM_017017186.2:c.9522G>C, XM_017017186.1:c.9522G>A, XM_017017186.1:c.9522G>C, XM_047426353.1:c.12852G>A, XM_047426353.1:c.12852G>C, NP_001008781.2:p.Gln4261His, NP_001354878.1:p.Gln4261His, XP_016872668.1:p.Gln4284His, XP_016872667.1:p.Gln4284His, XP_016872671.1:p.Gln4284His, XP_016872673.1:p.Gln4284His, XP_016872674.1:p.Gln3212His, XP_016872676.1:p.Gln3174His, XP_016872669.1:p.Gln4284His, XP_016872675.1:p.Gln3174His, XP_047282309.1:p.Gln4284His

                8.

                rs1489611460 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:92799097 (GRCh38)
                  11:92532263 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:92799096:A:T
                  Gene:
                  FAT3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1489044870 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    11:92799225 (GRCh38)
                    11:92532391 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:92799224:G:C,NC_000011.10:92799224:G:T
                    Gene:
                    FAT3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000028/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.92799225G>C, NC_000011.10:g.92799225G>T, NC_000011.9:g.92532391G>C, NC_000011.9:g.92532391G>T, NG_052813.1:g.579590G>C, NG_052813.1:g.579590G>T, NM_001008781.3:c.6212G>C, NM_001008781.3:c.6212G>T, NM_001008781.2:c.6212G>C, NM_001008781.2:c.6212G>T, NM_001367949.2:c.6212G>C, NM_001367949.2:c.6212G>T, NM_001367949.1:c.6212G>C, NM_001367949.1:c.6212G>T, XM_017017179.3:c.6281G>C, XM_017017179.3:c.6281G>T, XM_017017179.2:c.6281G>C, XM_017017179.2:c.6281G>T, XM_017017179.1:c.6281G>C, XM_017017179.1:c.6281G>T, XM_017017178.3:c.6281G>C, XM_017017178.3:c.6281G>T, XM_017017178.2:c.6281G>C, XM_017017178.2:c.6281G>T, XM_017017178.1:c.6281G>C, XM_017017178.1:c.6281G>T, XM_017017182.3:c.6281G>C, XM_017017182.3:c.6281G>T, XM_017017182.2:c.6281G>C, XM_017017182.2:c.6281G>T, XM_017017182.1:c.6281G>C, XM_017017182.1:c.6281G>T, XM_017017184.3:c.6281G>C, XM_017017184.3:c.6281G>T, XM_017017184.2:c.6281G>C, XM_017017184.2:c.6281G>T, XM_017017184.1:c.6281G>C, XM_017017184.1:c.6281G>T, XM_017017185.2:c.3065G>C, XM_017017185.2:c.3065G>T, XM_017017185.1:c.3065G>C, XM_017017185.1:c.3065G>T, XM_017017187.2:c.2951G>C, XM_017017187.2:c.2951G>T, XM_017017187.1:c.2951G>C, XM_017017187.1:c.2951G>T, XM_017017180.2:c.6281G>C, XM_017017180.2:c.6281G>T, XM_017017180.1:c.6281G>C, XM_017017180.1:c.6281G>T, XM_017017186.2:c.2951G>C, XM_017017186.2:c.2951G>T, XM_017017186.1:c.2951G>C, XM_017017186.1:c.2951G>T, XM_047426353.1:c.6281G>C, XM_047426353.1:c.6281G>T, NP_001008781.2:p.Arg2071Thr, NP_001008781.2:p.Arg2071Met, NP_001354878.1:p.Arg2071Thr, NP_001354878.1:p.Arg2071Met, XP_016872668.1:p.Arg2094Thr, XP_016872668.1:p.Arg2094Met, XP_016872667.1:p.Arg2094Thr, XP_016872667.1:p.Arg2094Met, XP_016872671.1:p.Arg2094Thr, XP_016872671.1:p.Arg2094Met, XP_016872673.1:p.Arg2094Thr, XP_016872673.1:p.Arg2094Met, XP_016872674.1:p.Arg1022Thr, XP_016872674.1:p.Arg1022Met, XP_016872676.1:p.Arg984Thr, XP_016872676.1:p.Arg984Met, XP_016872669.1:p.Arg2094Thr, XP_016872669.1:p.Arg2094Met, XP_016872675.1:p.Arg984Thr, XP_016872675.1:p.Arg984Met, XP_047282309.1:p.Arg2094Thr, XP_047282309.1:p.Arg2094Met

                    10.

                    rs1488727434 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      11:92890770 (GRCh38)
                      11:92623936 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:92890769:G:A,NC_000011.10:92890769:G:C,NC_000011.10:92890769:G:T
                      Gene:
                      FAT3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000011.10:g.92890770G>A, NC_000011.10:g.92890770G>C, NC_000011.10:g.92890770G>T, NC_000011.9:g.92623936G>A, NC_000011.9:g.92623936G>C, NC_000011.9:g.92623936G>T, NG_052813.1:g.671135G>A, NG_052813.1:g.671135G>C, NG_052813.1:g.671135G>T, NM_001008781.3:c.13331G>A, NM_001008781.3:c.13331G>C, NM_001008781.3:c.13331G>T, NM_001008781.2:c.13331G>A, NM_001008781.2:c.13331G>C, NM_001008781.2:c.13331G>T, NM_001367949.2:c.13427G>A, NM_001367949.2:c.13427G>C, NM_001367949.2:c.13427G>T, NM_001367949.1:c.13427G>A, NM_001367949.1:c.13427G>C, NM_001367949.1:c.13427G>T, XM_017017179.3:c.13496G>A, XM_017017179.3:c.13496G>C, XM_017017179.3:c.13496G>T, XM_017017179.2:c.13496G>A, XM_017017179.2:c.13496G>C, XM_017017179.2:c.13496G>T, XM_017017179.1:c.13496G>A, XM_017017179.1:c.13496G>C, XM_017017179.1:c.13496G>T, XM_017017178.3:c.13496G>A, XM_017017178.3:c.13496G>C, XM_017017178.3:c.13496G>T, XM_017017178.2:c.13496G>A, XM_017017178.2:c.13496G>C, XM_017017178.2:c.13496G>T, XM_017017178.1:c.13496G>A, XM_017017178.1:c.13496G>C, XM_017017178.1:c.13496G>T, XM_017017182.3:c.13400G>A, XM_017017182.3:c.13400G>C, XM_017017182.3:c.13400G>T, XM_017017182.2:c.13400G>A, XM_017017182.2:c.13400G>C, XM_017017182.2:c.13400G>T, XM_017017182.1:c.13400G>A, XM_017017182.1:c.13400G>C, XM_017017182.1:c.13400G>T, XM_017017185.2:c.10280G>A, XM_017017185.2:c.10280G>C, XM_017017185.2:c.10280G>T, XM_017017185.1:c.10280G>A, XM_017017185.1:c.10280G>C, XM_017017185.1:c.10280G>T, XM_017017187.2:c.10166G>A, XM_017017187.2:c.10166G>C, XM_017017187.2:c.10166G>T, XM_017017187.1:c.10166G>A, XM_017017187.1:c.10166G>C, XM_017017187.1:c.10166G>T, XM_017017180.2:c.13436G>A, XM_017017180.2:c.13436G>C, XM_017017180.2:c.13436G>T, XM_017017180.1:c.13436G>A, XM_017017180.1:c.13436G>C, XM_017017180.1:c.13436G>T, XM_017017186.2:c.10166G>A, XM_017017186.2:c.10166G>C, XM_017017186.2:c.10166G>T, XM_017017186.1:c.10166G>A, XM_017017186.1:c.10166G>C, XM_017017186.1:c.10166G>T, XM_047426353.1:c.13496G>A, XM_047426353.1:c.13496G>C, XM_047426353.1:c.13496G>T, NP_001008781.2:p.Ser4444Asn, NP_001008781.2:p.Ser4444Thr, NP_001008781.2:p.Ser4444Ile, NP_001354878.1:p.Ser4476Asn, NP_001354878.1:p.Ser4476Thr, NP_001354878.1:p.Ser4476Ile, XP_016872668.1:p.Ser4499Asn, XP_016872668.1:p.Ser4499Thr, XP_016872668.1:p.Ser4499Ile, XP_016872667.1:p.Ser4499Asn, XP_016872667.1:p.Ser4499Thr, XP_016872667.1:p.Ser4499Ile, XP_016872671.1:p.Ser4467Asn, XP_016872671.1:p.Ser4467Thr, XP_016872671.1:p.Ser4467Ile, XP_016872674.1:p.Ser3427Asn, XP_016872674.1:p.Ser3427Thr, XP_016872674.1:p.Ser3427Ile, XP_016872676.1:p.Ser3389Asn, XP_016872676.1:p.Ser3389Thr, XP_016872676.1:p.Ser3389Ile, XP_016872669.1:p.Ser4479Asn, XP_016872669.1:p.Ser4479Thr, XP_016872669.1:p.Ser4479Ile, XP_016872675.1:p.Ser3389Asn, XP_016872675.1:p.Ser3389Thr, XP_016872675.1:p.Ser3389Ile, XP_047282309.1:p.Ser4499Asn, XP_047282309.1:p.Ser4499Thr, XP_047282309.1:p.Ser4499Ile

                      11.

                      rs1488426308 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        11:92801369 (GRCh38)
                        11:92534535 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:92801368:A:G,NC_000011.10:92801368:A:T
                        Gene:
                        FAT3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.92801369A>G, NC_000011.10:g.92801369A>T, NC_000011.9:g.92534535A>G, NC_000011.9:g.92534535A>T, NG_052813.1:g.581734A>G, NG_052813.1:g.581734A>T, NM_001008781.3:c.8356A>G, NM_001008781.3:c.8356A>T, NM_001008781.2:c.8356A>G, NM_001008781.2:c.8356A>T, NM_001367949.2:c.8356A>G, NM_001367949.2:c.8356A>T, NM_001367949.1:c.8356A>G, NM_001367949.1:c.8356A>T, XM_017017179.3:c.8425A>G, XM_017017179.3:c.8425A>T, XM_017017179.2:c.8425A>G, XM_017017179.2:c.8425A>T, XM_017017179.1:c.8425A>G, XM_017017179.1:c.8425A>T, XM_017017178.3:c.8425A>G, XM_017017178.3:c.8425A>T, XM_017017178.2:c.8425A>G, XM_017017178.2:c.8425A>T, XM_017017178.1:c.8425A>G, XM_017017178.1:c.8425A>T, XM_017017182.3:c.8425A>G, XM_017017182.3:c.8425A>T, XM_017017182.2:c.8425A>G, XM_017017182.2:c.8425A>T, XM_017017182.1:c.8425A>G, XM_017017182.1:c.8425A>T, XM_017017184.3:c.8425A>G, XM_017017184.3:c.8425A>T, XM_017017184.2:c.8425A>G, XM_017017184.2:c.8425A>T, XM_017017184.1:c.8425A>G, XM_017017184.1:c.8425A>T, XM_017017185.2:c.5209A>G, XM_017017185.2:c.5209A>T, XM_017017185.1:c.5209A>G, XM_017017185.1:c.5209A>T, XM_017017187.2:c.5095A>G, XM_017017187.2:c.5095A>T, XM_017017187.1:c.5095A>G, XM_017017187.1:c.5095A>T, XM_017017180.2:c.8425A>G, XM_017017180.2:c.8425A>T, XM_017017180.1:c.8425A>G, XM_017017180.1:c.8425A>T, XM_017017186.2:c.5095A>G, XM_017017186.2:c.5095A>T, XM_017017186.1:c.5095A>G, XM_017017186.1:c.5095A>T, XM_047426353.1:c.8425A>G, XM_047426353.1:c.8425A>T, NP_001008781.2:p.Thr2786Ala, NP_001008781.2:p.Thr2786Ser, NP_001354878.1:p.Thr2786Ala, NP_001354878.1:p.Thr2786Ser, XP_016872668.1:p.Thr2809Ala, XP_016872668.1:p.Thr2809Ser, XP_016872667.1:p.Thr2809Ala, XP_016872667.1:p.Thr2809Ser, XP_016872671.1:p.Thr2809Ala, XP_016872671.1:p.Thr2809Ser, XP_016872673.1:p.Thr2809Ala, XP_016872673.1:p.Thr2809Ser, XP_016872674.1:p.Thr1737Ala, XP_016872674.1:p.Thr1737Ser, XP_016872676.1:p.Thr1699Ala, XP_016872676.1:p.Thr1699Ser, XP_016872669.1:p.Thr2809Ala, XP_016872669.1:p.Thr2809Ser, XP_016872675.1:p.Thr1699Ala, XP_016872675.1:p.Thr1699Ser, XP_047282309.1:p.Thr2809Ala, XP_047282309.1:p.Thr2809Ser

                        12.

                        rs1487631941 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          11:92765073 (GRCh38)
                          11:92498239 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:92765072:G:C
                          Gene:
                          FAT3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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:

                          13.

                          rs1487584585 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            11:92801877 (GRCh38)
                            11:92535043 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:92801876:A:T
                            Gene:
                            FAT3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000011.10:g.92801877A>T, NC_000011.9:g.92535043A>T, NG_052813.1:g.582242A>T, NM_001008781.3:c.8864A>T, NM_001008781.2:c.8864A>T, NM_001367949.2:c.8864A>T, NM_001367949.1:c.8864A>T, XM_017017179.3:c.8933A>T, XM_017017179.2:c.8933A>T, XM_017017179.1:c.8933A>T, XM_017017178.3:c.8933A>T, XM_017017178.2:c.8933A>T, XM_017017178.1:c.8933A>T, XM_017017182.3:c.8933A>T, XM_017017182.2:c.8933A>T, XM_017017182.1:c.8933A>T, XM_017017184.3:c.8933A>T, XM_017017184.2:c.8933A>T, XM_017017184.1:c.8933A>T, XM_017017185.2:c.5717A>T, XM_017017185.1:c.5717A>T, XM_017017187.2:c.5603A>T, XM_017017187.1:c.5603A>T, XM_017017180.2:c.8933A>T, XM_017017180.1:c.8933A>T, XM_017017186.2:c.5603A>T, XM_017017186.1:c.5603A>T, XM_047426353.1:c.8933A>T, NP_001008781.2:p.Asp2955Val, NP_001354878.1:p.Asp2955Val, XP_016872668.1:p.Asp2978Val, XP_016872667.1:p.Asp2978Val, XP_016872671.1:p.Asp2978Val, XP_016872673.1:p.Asp2978Val, XP_016872674.1:p.Asp1906Val, XP_016872676.1:p.Asp1868Val, XP_016872669.1:p.Asp2978Val, XP_016872675.1:p.Asp1868Val, XP_047282309.1:p.Asp2978Val

                            14.

                            rs1487520588 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              11:92883306 (GRCh38)
                              11:92616472 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:92883305:A:T
                              Gene:
                              FAT3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.92883306A>T, NC_000011.9:g.92616472A>T, NG_052813.1:g.663671A>T, NM_001008781.3:c.12850A>T, NM_001008781.2:c.12850A>T, NM_001367949.2:c.12850A>T, NM_001367949.1:c.12850A>T, XM_017017179.3:c.12919A>T, XM_017017179.2:c.12919A>T, XM_017017179.1:c.12919A>T, XM_017017178.3:c.12919A>T, XM_017017178.2:c.12919A>T, XM_017017178.1:c.12919A>T, XM_017017182.3:c.12919A>T, XM_017017182.2:c.12919A>T, XM_017017182.1:c.12919A>T, XM_017017184.3:c.12919A>T, XM_017017184.2:c.12919A>T, XM_017017184.1:c.12919A>T, XM_017017185.2:c.9703A>T, XM_017017185.1:c.9703A>T, XM_017017187.2:c.9589A>T, XM_017017187.1:c.9589A>T, XM_017017180.2:c.12919A>T, XM_017017180.1:c.12919A>T, XM_017017186.2:c.9589A>T, XM_017017186.1:c.9589A>T, XM_047426353.1:c.12919A>T, NP_001008781.2:p.Ser4284Cys, NP_001354878.1:p.Ser4284Cys, XP_016872668.1:p.Ser4307Cys, XP_016872667.1:p.Ser4307Cys, XP_016872671.1:p.Ser4307Cys, XP_016872673.1:p.Ser4307Cys, XP_016872674.1:p.Ser3235Cys, XP_016872676.1:p.Ser3197Cys, XP_016872669.1:p.Ser4307Cys, XP_016872675.1:p.Ser3197Cys, XP_047282309.1:p.Ser4307Cys

                              15.

                              rs1487506778 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                11:92762024 (GRCh38)
                                11:92495190 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:92762023:G:A,NC_000011.10:92762023:G:C
                                Gene:
                                FAT3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.92762024G>A, NC_000011.10:g.92762024G>C, NC_000011.9:g.92495190G>A, NC_000011.9:g.92495190G>C, NG_052813.1:g.542389G>A, NG_052813.1:g.542389G>C, NM_001008781.3:c.3838G>A, NM_001008781.3:c.3838G>C, NM_001008781.2:c.3838G>A, NM_001008781.2:c.3838G>C, NM_001367949.2:c.3838G>A, NM_001367949.2:c.3838G>C, NM_001367949.1:c.3838G>A, NM_001367949.1:c.3838G>C, XM_017017179.3:c.3838G>A, XM_017017179.3:c.3838G>C, XM_017017179.2:c.3838G>A, XM_017017179.2:c.3838G>C, XM_017017179.1:c.3838G>A, XM_017017179.1:c.3838G>C, XM_017017178.3:c.3838G>A, XM_017017178.3:c.3838G>C, XM_017017178.2:c.3838G>A, XM_017017178.2:c.3838G>C, XM_017017178.1:c.3838G>A, XM_017017178.1:c.3838G>C, XM_017017182.3:c.3838G>A, XM_017017182.3:c.3838G>C, XM_017017182.2:c.3838G>A, XM_017017182.2:c.3838G>C, XM_017017182.1:c.3838G>A, XM_017017182.1:c.3838G>C, XM_017017184.3:c.3838G>A, XM_017017184.3:c.3838G>C, XM_017017184.2:c.3838G>A, XM_017017184.2:c.3838G>C, XM_017017184.1:c.3838G>A, XM_017017184.1:c.3838G>C, XM_017017185.2:c.622G>A, XM_017017185.2:c.622G>C, XM_017017185.1:c.622G>A, XM_017017185.1:c.622G>C, XM_017017187.2:c.508G>A, XM_017017187.2:c.508G>C, XM_017017187.1:c.508G>A, XM_017017187.1:c.508G>C, XM_017017180.2:c.3838G>A, XM_017017180.2:c.3838G>C, XM_017017180.1:c.3838G>A, XM_017017180.1:c.3838G>C, XM_017017186.2:c.508G>A, XM_017017186.2:c.508G>C, XM_017017186.1:c.508G>A, XM_017017186.1:c.508G>C, XM_047426353.1:c.3838G>A, XM_047426353.1:c.3838G>C, NP_001008781.2:p.Ala1280Thr, NP_001008781.2:p.Ala1280Pro, NP_001354878.1:p.Ala1280Thr, NP_001354878.1:p.Ala1280Pro, XP_016872668.1:p.Ala1280Thr, XP_016872668.1:p.Ala1280Pro, XP_016872667.1:p.Ala1280Thr, XP_016872667.1:p.Ala1280Pro, XP_016872671.1:p.Ala1280Thr, XP_016872671.1:p.Ala1280Pro, XP_016872673.1:p.Ala1280Thr, XP_016872673.1:p.Ala1280Pro, XP_016872674.1:p.Ala208Thr, XP_016872674.1:p.Ala208Pro, XP_016872676.1:p.Ala170Thr, XP_016872676.1:p.Ala170Pro, XP_016872669.1:p.Ala1280Thr, XP_016872669.1:p.Ala1280Pro, XP_016872675.1:p.Ala170Thr, XP_016872675.1:p.Ala170Pro, XP_047282309.1:p.Ala1280Thr, XP_047282309.1:p.Ala1280Pro

                                16.

                                rs1487153529 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:92800309 (GRCh38)
                                  11:92533475 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:92800308:C:T
                                  Gene:
                                  FAT3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1486678306 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    11:92891000 (GRCh38)
                                    11:92624166 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:92890999:T:A,NC_000011.10:92890999:T:C
                                    Gene:
                                    FAT3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.92891000T>A, NC_000011.10:g.92891000T>C, NC_000011.9:g.92624166T>A, NC_000011.9:g.92624166T>C, NG_052813.1:g.671365T>A, NG_052813.1:g.671365T>C, NM_001008781.3:c.13561T>A, NM_001008781.3:c.13561T>C, NM_001008781.2:c.13561T>A, NM_001008781.2:c.13561T>C, NM_001367949.2:c.13657T>A, NM_001367949.2:c.13657T>C, NM_001367949.1:c.13657T>A, NM_001367949.1:c.13657T>C, XM_017017179.3:c.13726T>A, XM_017017179.3:c.13726T>C, XM_017017179.2:c.13726T>A, XM_017017179.2:c.13726T>C, XM_017017179.1:c.13726T>A, XM_017017179.1:c.13726T>C, XM_017017178.3:c.13726T>A, XM_017017178.3:c.13726T>C, XM_017017178.2:c.13726T>A, XM_017017178.2:c.13726T>C, XM_017017178.1:c.13726T>A, XM_017017178.1:c.13726T>C, XM_017017182.3:c.13630T>A, XM_017017182.3:c.13630T>C, XM_017017182.2:c.13630T>A, XM_017017182.2:c.13630T>C, XM_017017182.1:c.13630T>A, XM_017017182.1:c.13630T>C, XM_017017185.2:c.10510T>A, XM_017017185.2:c.10510T>C, XM_017017185.1:c.10510T>A, XM_017017185.1:c.10510T>C, XM_017017187.2:c.10396T>A, XM_017017187.2:c.10396T>C, XM_017017187.1:c.10396T>A, XM_017017187.1:c.10396T>C, XM_017017180.2:c.13666T>A, XM_017017180.2:c.13666T>C, XM_017017180.1:c.13666T>A, XM_017017180.1:c.13666T>C, XM_017017186.2:c.10396T>A, XM_017017186.2:c.10396T>C, XM_017017186.1:c.10396T>A, XM_017017186.1:c.10396T>C, XM_047426353.1:c.13726T>A, XM_047426353.1:c.13726T>C, NP_001008781.2:p.Cys4521Ser, NP_001008781.2:p.Cys4521Arg, NP_001354878.1:p.Cys4553Ser, NP_001354878.1:p.Cys4553Arg, XP_016872668.1:p.Cys4576Ser, XP_016872668.1:p.Cys4576Arg, XP_016872667.1:p.Cys4576Ser, XP_016872667.1:p.Cys4576Arg, XP_016872671.1:p.Cys4544Ser, XP_016872671.1:p.Cys4544Arg, XP_016872674.1:p.Cys3504Ser, XP_016872674.1:p.Cys3504Arg, XP_016872676.1:p.Cys3466Ser, XP_016872676.1:p.Cys3466Arg, XP_016872669.1:p.Cys4556Ser, XP_016872669.1:p.Cys4556Arg, XP_016872675.1:p.Cys3466Ser, XP_016872675.1:p.Cys3466Arg, XP_047282309.1:p.Cys4576Ser, XP_047282309.1:p.Cys4576Arg

                                    18.

                                    rs1486621447 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      11:92798105 (GRCh38)
                                      11:92531271 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:92798104:C:A
                                      Gene:
                                      FAT3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.92798105C>A, NC_000011.9:g.92531271C>A, NG_052813.1:g.578470C>A, NM_001008781.3:c.5092C>A, NM_001008781.2:c.5092C>A, NM_001367949.2:c.5092C>A, NM_001367949.1:c.5092C>A, XM_017017179.3:c.5161C>A, XM_017017179.2:c.5161C>A, XM_017017179.1:c.5161C>A, XM_017017178.3:c.5161C>A, XM_017017178.2:c.5161C>A, XM_017017178.1:c.5161C>A, XM_017017182.3:c.5161C>A, XM_017017182.2:c.5161C>A, XM_017017182.1:c.5161C>A, XM_017017184.3:c.5161C>A, XM_017017184.2:c.5161C>A, XM_017017184.1:c.5161C>A, XM_017017185.2:c.1945C>A, XM_017017185.1:c.1945C>A, XM_017017187.2:c.1831C>A, XM_017017187.1:c.1831C>A, XM_017017180.2:c.5161C>A, XM_017017180.1:c.5161C>A, XM_017017186.2:c.1831C>A, XM_017017186.1:c.1831C>A, XM_047426353.1:c.5161C>A, NP_001008781.2:p.Gln1698Lys, NP_001354878.1:p.Gln1698Lys, XP_016872668.1:p.Gln1721Lys, XP_016872667.1:p.Gln1721Lys, XP_016872671.1:p.Gln1721Lys, XP_016872673.1:p.Gln1721Lys, XP_016872674.1:p.Gln649Lys, XP_016872676.1:p.Gln611Lys, XP_016872669.1:p.Gln1721Lys, XP_016872675.1:p.Gln611Lys, XP_047282309.1:p.Gln1721Lys

                                      19.

                                      rs1486467986 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:92800732 (GRCh38)
                                        11:92533898 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:92800731:G:A
                                        Gene:
                                        FAT3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1485952763 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          11:92800663 (GRCh38)
                                          11:92533829 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:92800662:G:T
                                          Gene:
                                          FAT3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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