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Items: 1 to 20 of 560

1.

rs1488871333 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    3:12604286 (GRCh38)
    3:12645785 (GRCh37)
    Canonical SPDI:
    NC_000003.12:12604285:A:C,NC_000003.12:12604285:A:G,NC_000003.12:12604285:A:T
    Gene:
    RAF1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.12604286A>C, NC_000003.12:g.12604286A>G, NC_000003.12:g.12604286A>T, NC_000003.11:g.12645785A>C, NC_000003.11:g.12645785A>G, NC_000003.11:g.12645785A>T, NG_007467.1:g.64894T>G, NG_007467.1:g.64894T>C, NG_007467.1:g.64894T>A, NM_002880.4:c.684T>G, NM_002880.4:c.684T>C, NM_002880.4:c.684T>A, NM_002880.3:c.684T>G, NM_002880.3:c.684T>C, NM_002880.3:c.684T>A, NR_148940.3:n.1015T>G, NR_148940.3:n.1015T>C, NR_148940.3:n.1015T>A, NR_148940.2:n.1015T>G, NR_148940.2:n.1015T>C, NR_148940.2:n.1015T>A, NR_148940.1:n.1099T>G, NR_148940.1:n.1099T>C, NR_148940.1:n.1099T>A, NM_001354689.3:c.684T>G, NM_001354689.3:c.684T>C, NM_001354689.3:c.684T>A, NM_001354689.2:c.684T>G, NM_001354689.2:c.684T>C, NM_001354689.2:c.684T>A, NM_001354689.1:c.684T>G, NM_001354689.1:c.684T>C, NM_001354689.1:c.684T>A, NR_148941.3:n.1015T>G, NR_148941.3:n.1015T>C, NR_148941.3:n.1015T>A, NR_148941.2:n.1015T>G, NR_148941.2:n.1015T>C, NR_148941.2:n.1015T>A, NR_148941.1:n.1099T>G, NR_148941.1:n.1099T>C, NR_148941.1:n.1099T>A, NR_148942.3:n.1015T>G, NR_148942.3:n.1015T>C, NR_148942.3:n.1015T>A, NR_148942.2:n.1015T>G, NR_148942.2:n.1015T>C, NR_148942.2:n.1015T>A, NR_148942.1:n.1099T>G, NR_148942.1:n.1099T>C, NR_148942.1:n.1099T>A, NM_001354691.3:c.441T>G, NM_001354691.3:c.441T>C, NM_001354691.3:c.441T>A, NM_001354691.2:c.441T>G, NM_001354691.2:c.441T>C, NM_001354691.2:c.441T>A, NM_001354691.1:c.441T>G, NM_001354691.1:c.441T>C, NM_001354691.1:c.441T>A, NM_001354694.3:c.441T>G, NM_001354694.3:c.441T>C, NM_001354694.3:c.441T>A, NM_001354694.2:c.441T>G, NM_001354694.2:c.441T>C, NM_001354694.2:c.441T>A, NM_001354694.1:c.441T>G, NM_001354694.1:c.441T>C, NM_001354694.1:c.441T>A, NM_001354693.3:c.585T>G, NM_001354693.3:c.585T>C, NM_001354693.3:c.585T>A, NM_001354693.2:c.585T>G, NM_001354693.2:c.585T>C, NM_001354693.2:c.585T>A, NM_001354693.1:c.585T>G, NM_001354693.1:c.585T>C, NM_001354693.1:c.585T>A, NM_001354692.3:c.441T>G, NM_001354692.3:c.441T>C, NM_001354692.3:c.441T>A, NM_001354692.2:c.441T>G, NM_001354692.2:c.441T>C, NM_001354692.2:c.441T>A, NM_001354692.1:c.441T>G, NM_001354692.1:c.441T>C, NM_001354692.1:c.441T>A, NM_001354690.3:c.684T>G, NM_001354690.3:c.684T>C, NM_001354690.3:c.684T>A, NM_001354690.2:c.684T>G, NM_001354690.2:c.684T>C, NM_001354690.2:c.684T>A, NM_001354690.1:c.684T>G, NM_001354690.1:c.684T>C, NM_001354690.1:c.684T>A, NM_001354695.3:c.342T>G, NM_001354695.3:c.342T>C, NM_001354695.3:c.342T>A, NM_001354695.2:c.342T>G, NM_001354695.2:c.342T>C, NM_001354695.2:c.342T>A, NM_001354695.1:c.342T>G, NM_001354695.1:c.342T>C, NM_001354695.1:c.342T>A, XM_011533974.3:c.684T>G, XM_011533974.3:c.684T>C, XM_011533974.3:c.684T>A, XM_011533974.2:c.684T>G, XM_011533974.2:c.684T>C, XM_011533974.2:c.684T>A, XM_011533974.1:c.684T>G, XM_011533974.1:c.684T>C, XM_011533974.1:c.684T>A, XM_047448651.1:c.585T>G, XM_047448651.1:c.585T>C, XM_047448651.1:c.585T>A, XM_047448650.1:c.684T>G, XM_047448650.1:c.684T>C, XM_047448650.1:c.684T>A, XM_047448649.1:c.684T>G, XM_047448649.1:c.684T>C, XM_047448649.1:c.684T>A, XM_017006966.1:c.585T>G, XM_017006966.1:c.585T>C, XM_017006966.1:c.585T>A

    2.

    rs1487959530 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      3:12600392 (GRCh38)
      3:12641891 (GRCh37)
      Canonical SPDI:
      NC_000003.12:12600391:T:G
      Gene:
      RAF1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.12600392T>G, NC_000003.11:g.12641891T>G, NG_007467.1:g.68788A>C, NM_002880.4:c.858A>C, NM_002880.3:c.858A>C, NR_148940.3:n.1189A>C, NR_148940.2:n.1189A>C, NR_148940.1:n.1273A>C, NM_001354689.3:c.918A>C, NM_001354689.2:c.918A>C, NM_001354689.1:c.918A>C, NR_148941.3:n.1189A>C, NR_148941.2:n.1189A>C, NR_148941.1:n.1273A>C, NR_148942.3:n.1189A>C, NR_148942.2:n.1189A>C, NR_148942.1:n.1273A>C, NM_001354691.3:c.615A>C, NM_001354691.2:c.615A>C, NM_001354691.1:c.615A>C, NM_001354694.3:c.675A>C, NM_001354694.2:c.675A>C, NM_001354694.1:c.675A>C, NM_001354693.3:c.759A>C, NM_001354693.2:c.759A>C, NM_001354693.1:c.759A>C, NM_001354692.3:c.615A>C, NM_001354692.2:c.615A>C, NM_001354692.1:c.615A>C, NM_001354690.3:c.858A>C, NM_001354690.2:c.858A>C, NM_001354690.1:c.858A>C, NM_001354695.3:c.516A>C, NM_001354695.2:c.516A>C, NM_001354695.1:c.516A>C, XM_011533974.3:c.858A>C, XM_011533974.2:c.858A>C, XM_011533974.1:c.858A>C, XM_047448651.1:c.759A>C, XM_047448650.1:c.858A>C, XM_047448649.1:c.858A>C, XM_017006966.1:c.759A>C, NP_002871.1:p.Glu286Asp, NP_001341618.1:p.Glu306Asp, NP_001341620.1:p.Glu205Asp, NP_001341623.1:p.Glu225Asp, NP_001341622.1:p.Glu253Asp, NP_001341621.1:p.Glu205Asp, NP_001341619.1:p.Glu286Asp, NP_001341624.1:p.Glu172Asp, XP_011532276.1:p.Glu286Asp, XP_047304607.1:p.Glu253Asp, XP_047304606.1:p.Glu286Asp, XP_047304605.1:p.Glu286Asp, XP_016862455.1:p.Glu253Asp

      3.

      rs1487370393 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        3:12585235 (GRCh38)
        3:12626734 (GRCh37)
        Canonical SPDI:
        NC_000003.12:12585234:T:A,NC_000003.12:12585234:T:C
        Gene:
        RAF1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.12585235T>A, NC_000003.12:g.12585235T>C, NC_000003.11:g.12626734T>A, NC_000003.11:g.12626734T>C, NG_007467.1:g.83945A>T, NG_007467.1:g.83945A>G, NM_002880.4:c.1555A>T, NM_002880.4:c.1555A>G, NM_002880.3:c.1555A>T, NM_002880.3:c.1555A>G, NR_148940.3:n.1999A>T, NR_148940.3:n.1999A>G, NR_148940.2:n.1999A>T, NR_148940.2:n.1999A>G, NR_148940.1:n.2083A>T, NR_148940.1:n.2083A>G, NM_001354689.3:c.1615A>T, NM_001354689.3:c.1615A>G, NM_001354689.2:c.1615A>T, NM_001354689.2:c.1615A>G, NM_001354689.1:c.1615A>T, NM_001354689.1:c.1615A>G, NR_148941.3:n.1945A>T, NR_148941.3:n.1945A>G, NR_148941.2:n.1945A>T, NR_148941.2:n.1945A>G, NR_148941.1:n.2029A>T, NR_148941.1:n.2029A>G, NR_148942.3:n.1884A>T, NR_148942.3:n.1884A>G, NR_148942.2:n.1884A>T, NR_148942.2:n.1884A>G, NR_148942.1:n.1968A>T, NR_148942.1:n.1968A>G, NM_001354691.3:c.1312A>T, NM_001354691.3:c.1312A>G, NM_001354691.2:c.1312A>T, NM_001354691.2:c.1312A>G, NM_001354691.1:c.1312A>T, NM_001354691.1:c.1312A>G, NM_001354694.3:c.1372A>T, NM_001354694.3:c.1372A>G, NM_001354694.2:c.1372A>T, NM_001354694.2:c.1372A>G, NM_001354694.1:c.1372A>T, NM_001354694.1:c.1372A>G, NM_001354693.3:c.1456A>T, NM_001354693.3:c.1456A>G, NM_001354693.2:c.1456A>T, NM_001354693.2:c.1456A>G, NM_001354693.1:c.1456A>T, NM_001354693.1:c.1456A>G, NM_001354692.3:c.1312A>T, NM_001354692.3:c.1312A>G, NM_001354692.2:c.1312A>T, NM_001354692.2:c.1312A>G, NM_001354692.1:c.1312A>T, NM_001354692.1:c.1312A>G, NM_001354690.3:c.1555A>T, NM_001354690.3:c.1555A>G, NM_001354690.2:c.1555A>T, NM_001354690.2:c.1555A>G, NM_001354690.1:c.1555A>T, NM_001354690.1:c.1555A>G, NM_001354695.3:c.1213A>T, NM_001354695.3:c.1213A>G, NM_001354695.2:c.1213A>T, NM_001354695.2:c.1213A>G, NM_001354695.1:c.1213A>T, NM_001354695.1:c.1213A>G, XM_011533974.3:c.1555A>T, XM_011533974.3:c.1555A>G, XM_011533974.2:c.1555A>T, XM_011533974.2:c.1555A>G, XM_011533974.1:c.1555A>T, XM_011533974.1:c.1555A>G, XM_047448651.1:c.1456A>T, XM_047448651.1:c.1456A>G, XM_047448650.1:c.1555A>T, XM_047448650.1:c.1555A>G, XM_047448649.1:c.1555A>T, XM_047448649.1:c.1555A>G, XM_017006966.1:c.1456A>T, XM_017006966.1:c.1456A>G, NP_002871.1:p.Met519Leu, NP_002871.1:p.Met519Val, NP_001341618.1:p.Met539Leu, NP_001341618.1:p.Met539Val, NP_001341620.1:p.Met438Leu, NP_001341620.1:p.Met438Val, NP_001341623.1:p.Met458Leu, NP_001341623.1:p.Met458Val, NP_001341622.1:p.Met486Leu, NP_001341622.1:p.Met486Val, NP_001341621.1:p.Met438Leu, NP_001341621.1:p.Met438Val, NP_001341619.1:p.Met519Leu, NP_001341619.1:p.Met519Val, NP_001341624.1:p.Met405Leu, NP_001341624.1:p.Met405Val, XP_011532276.1:p.Met519Leu, XP_011532276.1:p.Met519Val, XP_047304607.1:p.Met486Leu, XP_047304607.1:p.Met486Val, XP_047304606.1:p.Met519Leu, XP_047304606.1:p.Met519Val, XP_047304605.1:p.Met519Leu, XP_047304605.1:p.Met519Val, XP_016862455.1:p.Met486Leu, XP_016862455.1:p.Met486Val

        4.

        rs1486365900 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          3:12618631 (GRCh38)
          3:12660130 (GRCh37)
          Canonical SPDI:
          NC_000003.12:12618630:T:C,NC_000003.12:12618630:T:G
          Gene:
          RAF1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.12618631T>C, NC_000003.12:g.12618631T>G, NC_000003.11:g.12660130T>C, NC_000003.11:g.12660130T>G, NG_007467.1:g.50549A>G, NG_007467.1:g.50549A>C, NM_002880.4:c.91A>G, NM_002880.4:c.91A>C, NM_002880.3:c.91A>G, NM_002880.3:c.91A>C, NR_148940.3:n.422A>G, NR_148940.3:n.422A>C, NR_148940.2:n.422A>G, NR_148940.2:n.422A>C, NR_148940.1:n.506A>G, NR_148940.1:n.506A>C, NM_001354689.3:c.91A>G, NM_001354689.3:c.91A>C, NM_001354689.2:c.91A>G, NM_001354689.2:c.91A>C, NM_001354689.1:c.91A>G, NM_001354689.1:c.91A>C, NR_148941.3:n.422A>G, NR_148941.3:n.422A>C, NR_148941.2:n.422A>G, NR_148941.2:n.422A>C, NR_148941.1:n.506A>G, NR_148941.1:n.506A>C, NR_148942.3:n.422A>G, NR_148942.3:n.422A>C, NR_148942.2:n.422A>G, NR_148942.2:n.422A>C, NR_148942.1:n.506A>G, NR_148942.1:n.506A>C, NM_001354691.3:c.-40A>G, NM_001354691.3:c.-40A>C, NM_001354691.2:c.-40A>G, NM_001354691.2:c.-40A>C, NM_001354691.1:c.-40A>G, NM_001354691.1:c.-40A>C, NM_001354694.3:c.-40A>G, NM_001354694.3:c.-40A>C, NM_001354694.2:c.-40A>G, NM_001354694.2:c.-40A>C, NM_001354694.1:c.-40A>G, NM_001354694.1:c.-40A>C, NM_001354693.3:c.91A>G, NM_001354693.3:c.91A>C, NM_001354693.2:c.91A>G, NM_001354693.2:c.91A>C, NM_001354693.1:c.91A>G, NM_001354693.1:c.91A>C, NM_001354692.3:c.-40A>G, NM_001354692.3:c.-40A>C, NM_001354692.2:c.-40A>G, NM_001354692.2:c.-40A>C, NM_001354692.1:c.-40A>G, NM_001354692.1:c.-40A>C, NM_001354690.3:c.91A>G, NM_001354690.3:c.91A>C, NM_001354690.2:c.91A>G, NM_001354690.2:c.91A>C, NM_001354690.1:c.91A>G, NM_001354690.1:c.91A>C, NM_001354695.3:c.-40A>G, NM_001354695.3:c.-40A>C, NM_001354695.2:c.-40A>G, NM_001354695.2:c.-40A>C, NM_001354695.1:c.-40A>G, NM_001354695.1:c.-40A>C, XM_011533974.3:c.91A>G, XM_011533974.3:c.91A>C, XM_011533974.2:c.91A>G, XM_011533974.2:c.91A>C, XM_011533974.1:c.91A>G, XM_011533974.1:c.91A>C, XM_047448651.1:c.91A>G, XM_047448651.1:c.91A>C, XM_047448650.1:c.91A>G, XM_047448650.1:c.91A>C, XM_047448649.1:c.91A>G, XM_047448649.1:c.91A>C, XM_017006966.1:c.91A>G, XM_017006966.1:c.91A>C, NP_002871.1:p.Thr31Ala, NP_002871.1:p.Thr31Pro, NP_001341618.1:p.Thr31Ala, NP_001341618.1:p.Thr31Pro, NP_001341622.1:p.Thr31Ala, NP_001341622.1:p.Thr31Pro, NP_001341619.1:p.Thr31Ala, NP_001341619.1:p.Thr31Pro, XP_011532276.1:p.Thr31Ala, XP_011532276.1:p.Thr31Pro, XP_047304607.1:p.Thr31Ala, XP_047304607.1:p.Thr31Pro, XP_047304606.1:p.Thr31Ala, XP_047304606.1:p.Thr31Pro, XP_047304605.1:p.Thr31Ala, XP_047304605.1:p.Thr31Pro, XP_016862455.1:p.Thr31Ala, XP_016862455.1:p.Thr31Pro

          5.

          rs1485672531 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            3:12604196 (GRCh38)
            3:12645695 (GRCh37)
            Canonical SPDI:
            NC_000003.12:12604195:T:C,NC_000003.12:12604195:T:G
            Gene:
            RAF1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0./0 (KOREAN)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.12604196T>C, NC_000003.12:g.12604196T>G, NC_000003.11:g.12645695T>C, NC_000003.11:g.12645695T>G, NG_007467.1:g.64984A>G, NG_007467.1:g.64984A>C, NM_002880.4:c.774A>G, NM_002880.4:c.774A>C, NM_002880.3:c.774A>G, NM_002880.3:c.774A>C, NR_148940.3:n.1105A>G, NR_148940.3:n.1105A>C, NR_148940.2:n.1105A>G, NR_148940.2:n.1105A>C, NR_148940.1:n.1189A>G, NR_148940.1:n.1189A>C, NM_001354689.3:c.774A>G, NM_001354689.3:c.774A>C, NM_001354689.2:c.774A>G, NM_001354689.2:c.774A>C, NM_001354689.1:c.774A>G, NM_001354689.1:c.774A>C, NR_148941.3:n.1105A>G, NR_148941.3:n.1105A>C, NR_148941.2:n.1105A>G, NR_148941.2:n.1105A>C, NR_148941.1:n.1189A>G, NR_148941.1:n.1189A>C, NR_148942.3:n.1105A>G, NR_148942.3:n.1105A>C, NR_148942.2:n.1105A>G, NR_148942.2:n.1105A>C, NR_148942.1:n.1189A>G, NR_148942.1:n.1189A>C, NM_001354691.3:c.531A>G, NM_001354691.3:c.531A>C, NM_001354691.2:c.531A>G, NM_001354691.2:c.531A>C, NM_001354691.1:c.531A>G, NM_001354691.1:c.531A>C, NM_001354694.3:c.531A>G, NM_001354694.3:c.531A>C, NM_001354694.2:c.531A>G, NM_001354694.2:c.531A>C, NM_001354694.1:c.531A>G, NM_001354694.1:c.531A>C, NM_001354693.3:c.675A>G, NM_001354693.3:c.675A>C, NM_001354693.2:c.675A>G, NM_001354693.2:c.675A>C, NM_001354693.1:c.675A>G, NM_001354693.1:c.675A>C, NM_001354692.3:c.531A>G, NM_001354692.3:c.531A>C, NM_001354692.2:c.531A>G, NM_001354692.2:c.531A>C, NM_001354692.1:c.531A>G, NM_001354692.1:c.531A>C, NM_001354690.3:c.774A>G, NM_001354690.3:c.774A>C, NM_001354690.2:c.774A>G, NM_001354690.2:c.774A>C, NM_001354690.1:c.774A>G, NM_001354690.1:c.774A>C, NM_001354695.3:c.432A>G, NM_001354695.3:c.432A>C, NM_001354695.2:c.432A>G, NM_001354695.2:c.432A>C, NM_001354695.1:c.432A>G, NM_001354695.1:c.432A>C, XM_011533974.3:c.774A>G, XM_011533974.3:c.774A>C, XM_011533974.2:c.774A>G, XM_011533974.2:c.774A>C, XM_011533974.1:c.774A>G, XM_011533974.1:c.774A>C, XM_047448651.1:c.675A>G, XM_047448651.1:c.675A>C, XM_047448650.1:c.774A>G, XM_047448650.1:c.774A>C, XM_047448649.1:c.774A>G, XM_047448649.1:c.774A>C, XM_017006966.1:c.675A>G, XM_017006966.1:c.675A>C

            6.

            rs1485014758 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:12590799 (GRCh38)
              3:12632298 (GRCh37)
              Canonical SPDI:
              NC_000003.12:12590798:C:T
              Gene:
              RAF1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.12590799C>T, NC_000003.11:g.12632298C>T, NG_007467.1:g.78381G>A, NM_002880.4:c.1369G>A, NM_002880.3:c.1369G>A, NR_148940.3:n.1813G>A, NR_148940.2:n.1813G>A, NR_148940.1:n.1897G>A, NM_001354689.3:c.1429G>A, NM_001354689.2:c.1429G>A, NM_001354689.1:c.1429G>A, NR_148941.3:n.1759G>A, NR_148941.2:n.1759G>A, NR_148941.1:n.1843G>A, NR_148942.3:n.1698G>A, NR_148942.2:n.1698G>A, NR_148942.1:n.1782G>A, NM_001354691.3:c.1126G>A, NM_001354691.2:c.1126G>A, NM_001354691.1:c.1126G>A, NM_001354694.3:c.1186G>A, NM_001354694.2:c.1186G>A, NM_001354694.1:c.1186G>A, NM_001354693.3:c.1270G>A, NM_001354693.2:c.1270G>A, NM_001354693.1:c.1270G>A, NM_001354692.3:c.1126G>A, NM_001354692.2:c.1126G>A, NM_001354692.1:c.1126G>A, NM_001354690.3:c.1369G>A, NM_001354690.2:c.1369G>A, NM_001354690.1:c.1369G>A, NM_001354695.3:c.1027G>A, NM_001354695.2:c.1027G>A, NM_001354695.1:c.1027G>A, XM_011533974.3:c.1369G>A, XM_011533974.2:c.1369G>A, XM_011533974.1:c.1369G>A, XM_047448651.1:c.1270G>A, XM_047448650.1:c.1369G>A, XM_047448649.1:c.1369G>A, XM_017006966.1:c.1270G>A, NP_002871.1:p.Asp457Asn, NP_001341618.1:p.Asp477Asn, NP_001341620.1:p.Asp376Asn, NP_001341623.1:p.Asp396Asn, NP_001341622.1:p.Asp424Asn, NP_001341621.1:p.Asp376Asn, NP_001341619.1:p.Asp457Asn, NP_001341624.1:p.Asp343Asn, XP_011532276.1:p.Asp457Asn, XP_047304607.1:p.Asp424Asn, XP_047304606.1:p.Asp457Asn, XP_047304605.1:p.Asp457Asn, XP_016862455.1:p.Asp424Asn

              7.

              rs1483186095 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:12608805 (GRCh38)
                3:12650304 (GRCh37)
                Canonical SPDI:
                NC_000003.12:12608804:G:A
                Gene:
                RAF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.12608805G>A, NC_000003.11:g.12650304G>A, NG_007467.1:g.60375C>T, NM_002880.4:c.542C>T, NM_002880.3:c.542C>T, NR_148940.3:n.873C>T, NR_148940.2:n.873C>T, NR_148940.1:n.957C>T, NM_001354689.3:c.542C>T, NM_001354689.2:c.542C>T, NM_001354689.1:c.542C>T, NR_148941.3:n.873C>T, NR_148941.2:n.873C>T, NR_148941.1:n.957C>T, NR_148942.3:n.873C>T, NR_148942.2:n.873C>T, NR_148942.1:n.957C>T, NM_001354691.3:c.299C>T, NM_001354691.2:c.299C>T, NM_001354691.1:c.299C>T, NM_001354694.3:c.299C>T, NM_001354694.2:c.299C>T, NM_001354694.1:c.299C>T, NM_001354693.3:c.542C>T, NM_001354693.2:c.542C>T, NM_001354693.1:c.542C>T, NM_001354692.3:c.299C>T, NM_001354692.2:c.299C>T, NM_001354692.1:c.299C>T, NM_001354690.3:c.542C>T, NM_001354690.2:c.542C>T, NM_001354690.1:c.542C>T, NM_001354695.3:c.299C>T, NM_001354695.2:c.299C>T, NM_001354695.1:c.299C>T, XM_011533974.3:c.542C>T, XM_011533974.2:c.542C>T, XM_011533974.1:c.542C>T, XM_047448651.1:c.542C>T, XM_047448650.1:c.542C>T, XM_047448649.1:c.542C>T, XM_017006966.1:c.542C>T, NP_002871.1:p.Pro181Leu, NP_001341618.1:p.Pro181Leu, NP_001341620.1:p.Pro100Leu, NP_001341623.1:p.Pro100Leu, NP_001341622.1:p.Pro181Leu, NP_001341621.1:p.Pro100Leu, NP_001341619.1:p.Pro181Leu, NP_001341624.1:p.Pro100Leu, XP_011532276.1:p.Pro181Leu, XP_047304607.1:p.Pro181Leu, XP_047304606.1:p.Pro181Leu, XP_047304605.1:p.Pro181Leu, XP_016862455.1:p.Pro181Leu

                8.

                rs1480507957 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  3:12618601 (GRCh38)
                  3:12660100 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:12618600:G:A,NC_000003.12:12618600:G:C
                  Gene:
                  RAF1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000028/1 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000003.12:g.12618601G>A, NC_000003.12:g.12618601G>C, NC_000003.11:g.12660100G>A, NC_000003.11:g.12660100G>C, NG_007467.1:g.50579C>T, NG_007467.1:g.50579C>G, NM_002880.4:c.121C>T, NM_002880.4:c.121C>G, NM_002880.3:c.121C>T, NM_002880.3:c.121C>G, NR_148940.3:n.452C>T, NR_148940.3:n.452C>G, NR_148940.2:n.452C>T, NR_148940.2:n.452C>G, NR_148940.1:n.536C>T, NR_148940.1:n.536C>G, NM_001354689.3:c.121C>T, NM_001354689.3:c.121C>G, NM_001354689.2:c.121C>T, NM_001354689.2:c.121C>G, NM_001354689.1:c.121C>T, NM_001354689.1:c.121C>G, NR_148941.3:n.452C>T, NR_148941.3:n.452C>G, NR_148941.2:n.452C>T, NR_148941.2:n.452C>G, NR_148941.1:n.536C>T, NR_148941.1:n.536C>G, NR_148942.3:n.452C>T, NR_148942.3:n.452C>G, NR_148942.2:n.452C>T, NR_148942.2:n.452C>G, NR_148942.1:n.536C>T, NR_148942.1:n.536C>G, NM_001354691.3:c.-10C>T, NM_001354691.3:c.-10C>G, NM_001354691.2:c.-10C>T, NM_001354691.2:c.-10C>G, NM_001354691.1:c.-10C>T, NM_001354691.1:c.-10C>G, NM_001354694.3:c.-10C>T, NM_001354694.3:c.-10C>G, NM_001354694.2:c.-10C>T, NM_001354694.2:c.-10C>G, NM_001354694.1:c.-10C>T, NM_001354694.1:c.-10C>G, NM_001354693.3:c.121C>T, NM_001354693.3:c.121C>G, NM_001354693.2:c.121C>T, NM_001354693.2:c.121C>G, NM_001354693.1:c.121C>T, NM_001354693.1:c.121C>G, NM_001354692.3:c.-10C>T, NM_001354692.3:c.-10C>G, NM_001354692.2:c.-10C>T, NM_001354692.2:c.-10C>G, NM_001354692.1:c.-10C>T, NM_001354692.1:c.-10C>G, NM_001354690.3:c.121C>T, NM_001354690.3:c.121C>G, NM_001354690.2:c.121C>T, NM_001354690.2:c.121C>G, NM_001354690.1:c.121C>T, NM_001354690.1:c.121C>G, NM_001354695.3:c.-10C>T, NM_001354695.3:c.-10C>G, NM_001354695.2:c.-10C>T, NM_001354695.2:c.-10C>G, NM_001354695.1:c.-10C>T, NM_001354695.1:c.-10C>G, XM_011533974.3:c.121C>T, XM_011533974.3:c.121C>G, XM_011533974.2:c.121C>T, XM_011533974.2:c.121C>G, XM_011533974.1:c.121C>T, XM_011533974.1:c.121C>G, XM_047448651.1:c.121C>T, XM_047448651.1:c.121C>G, XM_047448650.1:c.121C>T, XM_047448650.1:c.121C>G, XM_047448649.1:c.121C>T, XM_047448649.1:c.121C>G, XM_017006966.1:c.121C>T, XM_017006966.1:c.121C>G, NP_002871.1:p.Arg41Trp, NP_002871.1:p.Arg41Gly, NP_001341618.1:p.Arg41Trp, NP_001341618.1:p.Arg41Gly, NP_001341622.1:p.Arg41Trp, NP_001341622.1:p.Arg41Gly, NP_001341619.1:p.Arg41Trp, NP_001341619.1:p.Arg41Gly, XP_011532276.1:p.Arg41Trp, XP_011532276.1:p.Arg41Gly, XP_047304607.1:p.Arg41Trp, XP_047304607.1:p.Arg41Gly, XP_047304606.1:p.Arg41Trp, XP_047304606.1:p.Arg41Gly, XP_047304605.1:p.Arg41Trp, XP_047304605.1:p.Arg41Gly, XP_016862455.1:p.Arg41Trp, XP_016862455.1:p.Arg41Gly

                  9.

                  rs1478388712 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    3:12599748 (GRCh38)
                    3:12641247 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:12599747:G:A,NC_000003.12:12599747:G:C
                    Gene:
                    RAF1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000028/1 (ALFA)
                    A=0.000008/2 (GnomAD_exomes)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000003.12:g.12599748G>A, NC_000003.12:g.12599748G>C, NC_000003.11:g.12641247G>A, NC_000003.11:g.12641247G>C, NG_007467.1:g.69432C>T, NG_007467.1:g.69432C>G, NM_002880.4:c.1051C>T, NM_002880.4:c.1051C>G, NM_002880.3:c.1051C>T, NM_002880.3:c.1051C>G, NR_148940.3:n.1382C>T, NR_148940.3:n.1382C>G, NR_148940.2:n.1382C>T, NR_148940.2:n.1382C>G, NR_148940.1:n.1466C>T, NR_148940.1:n.1466C>G, NM_001354689.3:c.1111C>T, NM_001354689.3:c.1111C>G, NM_001354689.2:c.1111C>T, NM_001354689.2:c.1111C>G, NM_001354689.1:c.1111C>T, NM_001354689.1:c.1111C>G, NR_148941.3:n.1382C>T, NR_148941.3:n.1382C>G, NR_148941.2:n.1382C>T, NR_148941.2:n.1382C>G, NR_148941.1:n.1466C>T, NR_148941.1:n.1466C>G, NR_148942.3:n.1380C>T, NR_148942.3:n.1380C>G, NR_148942.2:n.1380C>T, NR_148942.2:n.1380C>G, NR_148942.1:n.1464C>T, NR_148942.1:n.1464C>G, NM_001354691.3:c.808C>T, NM_001354691.3:c.808C>G, NM_001354691.2:c.808C>T, NM_001354691.2:c.808C>G, NM_001354691.1:c.808C>T, NM_001354691.1:c.808C>G, NM_001354694.3:c.868C>T, NM_001354694.3:c.868C>G, NM_001354694.2:c.868C>T, NM_001354694.2:c.868C>G, NM_001354694.1:c.868C>T, NM_001354694.1:c.868C>G, NM_001354693.3:c.952C>T, NM_001354693.3:c.952C>G, NM_001354693.2:c.952C>T, NM_001354693.2:c.952C>G, NM_001354693.1:c.952C>T, NM_001354693.1:c.952C>G, NM_001354692.3:c.808C>T, NM_001354692.3:c.808C>G, NM_001354692.2:c.808C>T, NM_001354692.2:c.808C>G, NM_001354692.1:c.808C>T, NM_001354692.1:c.808C>G, NM_001354690.3:c.1051C>T, NM_001354690.3:c.1051C>G, NM_001354690.2:c.1051C>T, NM_001354690.2:c.1051C>G, NM_001354690.1:c.1051C>T, NM_001354690.1:c.1051C>G, NM_001354695.3:c.709C>T, NM_001354695.3:c.709C>G, NM_001354695.2:c.709C>T, NM_001354695.2:c.709C>G, NM_001354695.1:c.709C>T, NM_001354695.1:c.709C>G, XM_011533974.3:c.1051C>T, XM_011533974.3:c.1051C>G, XM_011533974.2:c.1051C>T, XM_011533974.2:c.1051C>G, XM_011533974.1:c.1051C>T, XM_011533974.1:c.1051C>G, XM_047448651.1:c.952C>T, XM_047448651.1:c.952C>G, XM_047448650.1:c.1051C>T, XM_047448650.1:c.1051C>G, XM_047448649.1:c.1051C>T, XM_047448649.1:c.1051C>G, XM_017006966.1:c.952C>T, XM_017006966.1:c.952C>G, NP_002871.1:p.Leu351Val, NP_001341618.1:p.Leu371Val, NP_001341620.1:p.Leu270Val, NP_001341623.1:p.Leu290Val, NP_001341622.1:p.Leu318Val, NP_001341621.1:p.Leu270Val, NP_001341619.1:p.Leu351Val, NP_001341624.1:p.Leu237Val, XP_011532276.1:p.Leu351Val, XP_047304607.1:p.Leu318Val, XP_047304606.1:p.Leu351Val, XP_047304605.1:p.Leu351Val, XP_016862455.1:p.Leu318Val

                    10.

                    rs1473607252 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      3:12604137 (GRCh38)
                      3:12645636 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:12604136:T:A,NC_000003.12:12604136:T:C
                      Gene:
                      RAF1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.12604137T>A, NC_000003.12:g.12604137T>C, NC_000003.11:g.12645636T>A, NC_000003.11:g.12645636T>C, NG_007467.1:g.65043A>T, NG_007467.1:g.65043A>G, NM_002880.4:c.833A>T, NM_002880.4:c.833A>G, NM_002880.3:c.833A>T, NM_002880.3:c.833A>G, NR_148940.3:n.1164A>T, NR_148940.3:n.1164A>G, NR_148940.2:n.1164A>T, NR_148940.2:n.1164A>G, NR_148940.1:n.1248A>T, NR_148940.1:n.1248A>G, NM_001354689.3:c.833A>T, NM_001354689.3:c.833A>G, NM_001354689.2:c.833A>T, NM_001354689.2:c.833A>G, NM_001354689.1:c.833A>T, NM_001354689.1:c.833A>G, NR_148941.3:n.1164A>T, NR_148941.3:n.1164A>G, NR_148941.2:n.1164A>T, NR_148941.2:n.1164A>G, NR_148941.1:n.1248A>T, NR_148941.1:n.1248A>G, NR_148942.3:n.1164A>T, NR_148942.3:n.1164A>G, NR_148942.2:n.1164A>T, NR_148942.2:n.1164A>G, NR_148942.1:n.1248A>T, NR_148942.1:n.1248A>G, NM_001354691.3:c.590A>T, NM_001354691.3:c.590A>G, NM_001354691.2:c.590A>T, NM_001354691.2:c.590A>G, NM_001354691.1:c.590A>T, NM_001354691.1:c.590A>G, NM_001354694.3:c.590A>T, NM_001354694.3:c.590A>G, NM_001354694.2:c.590A>T, NM_001354694.2:c.590A>G, NM_001354694.1:c.590A>T, NM_001354694.1:c.590A>G, NM_001354693.3:c.734A>T, NM_001354693.3:c.734A>G, NM_001354693.2:c.734A>T, NM_001354693.2:c.734A>G, NM_001354693.1:c.734A>T, NM_001354693.1:c.734A>G, NM_001354692.3:c.590A>T, NM_001354692.3:c.590A>G, NM_001354692.2:c.590A>T, NM_001354692.2:c.590A>G, NM_001354692.1:c.590A>T, NM_001354692.1:c.590A>G, NM_001354690.3:c.833A>T, NM_001354690.3:c.833A>G, NM_001354690.2:c.833A>T, NM_001354690.2:c.833A>G, NM_001354690.1:c.833A>T, NM_001354690.1:c.833A>G, NM_001354695.3:c.491A>T, NM_001354695.3:c.491A>G, NM_001354695.2:c.491A>T, NM_001354695.2:c.491A>G, NM_001354695.1:c.491A>T, NM_001354695.1:c.491A>G, XM_011533974.3:c.833A>T, XM_011533974.3:c.833A>G, XM_011533974.2:c.833A>T, XM_011533974.2:c.833A>G, XM_011533974.1:c.833A>T, XM_011533974.1:c.833A>G, XM_047448651.1:c.734A>T, XM_047448651.1:c.734A>G, XM_047448650.1:c.833A>T, XM_047448650.1:c.833A>G, XM_047448649.1:c.833A>T, XM_047448649.1:c.833A>G, XM_017006966.1:c.734A>T, XM_017006966.1:c.734A>G, NP_002871.1:p.Glu278Val, NP_002871.1:p.Glu278Gly, NP_001341618.1:p.Glu278Val, NP_001341618.1:p.Glu278Gly, NP_001341620.1:p.Glu197Val, NP_001341620.1:p.Glu197Gly, NP_001341623.1:p.Glu197Val, NP_001341623.1:p.Glu197Gly, NP_001341622.1:p.Glu245Val, NP_001341622.1:p.Glu245Gly, NP_001341621.1:p.Glu197Val, NP_001341621.1:p.Glu197Gly, NP_001341619.1:p.Glu278Val, NP_001341619.1:p.Glu278Gly, NP_001341624.1:p.Glu164Val, NP_001341624.1:p.Glu164Gly, XP_011532276.1:p.Glu278Val, XP_011532276.1:p.Glu278Gly, XP_047304607.1:p.Glu245Val, XP_047304607.1:p.Glu245Gly, XP_047304606.1:p.Glu278Val, XP_047304606.1:p.Glu278Gly, XP_047304605.1:p.Glu278Val, XP_047304605.1:p.Glu278Gly, XP_016862455.1:p.Glu245Val, XP_016862455.1:p.Glu245Gly

                      11.

                      rs1472040007 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        3:12606207 (GRCh38)
                        3:12647706 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:12606206:G:A,NC_000003.12:12606206:G:C
                        Gene:
                        RAF1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.12606207G>A, NC_000003.12:g.12606207G>C, NC_000003.11:g.12647706G>A, NC_000003.11:g.12647706G>C, NG_007467.1:g.62973C>T, NG_007467.1:g.62973C>G, NM_002880.4:c.674C>T, NM_002880.4:c.674C>G, NM_002880.3:c.674C>T, NM_002880.3:c.674C>G, NR_148940.3:n.1005C>T, NR_148940.3:n.1005C>G, NR_148940.2:n.1005C>T, NR_148940.2:n.1005C>G, NR_148940.1:n.1089C>T, NR_148940.1:n.1089C>G, NM_001354689.3:c.674C>T, NM_001354689.3:c.674C>G, NM_001354689.2:c.674C>T, NM_001354689.2:c.674C>G, NM_001354689.1:c.674C>T, NM_001354689.1:c.674C>G, NR_148941.3:n.1005C>T, NR_148941.3:n.1005C>G, NR_148941.2:n.1005C>T, NR_148941.2:n.1005C>G, NR_148941.1:n.1089C>T, NR_148941.1:n.1089C>G, NR_148942.3:n.1005C>T, NR_148942.3:n.1005C>G, NR_148942.2:n.1005C>T, NR_148942.2:n.1005C>G, NR_148942.1:n.1089C>T, NR_148942.1:n.1089C>G, NM_001354691.3:c.431C>T, NM_001354691.3:c.431C>G, NM_001354691.2:c.431C>T, NM_001354691.2:c.431C>G, NM_001354691.1:c.431C>T, NM_001354691.1:c.431C>G, NM_001354694.3:c.431C>T, NM_001354694.3:c.431C>G, NM_001354694.2:c.431C>T, NM_001354694.2:c.431C>G, NM_001354694.1:c.431C>T, NM_001354694.1:c.431C>G, NM_001354692.3:c.431C>T, NM_001354692.3:c.431C>G, NM_001354692.2:c.431C>T, NM_001354692.2:c.431C>G, NM_001354692.1:c.431C>T, NM_001354692.1:c.431C>G, NM_001354690.3:c.674C>T, NM_001354690.3:c.674C>G, NM_001354690.2:c.674C>T, NM_001354690.2:c.674C>G, NM_001354690.1:c.674C>T, NM_001354690.1:c.674C>G, XM_011533974.3:c.674C>T, XM_011533974.3:c.674C>G, XM_011533974.2:c.674C>T, XM_011533974.2:c.674C>G, XM_011533974.1:c.674C>T, XM_011533974.1:c.674C>G, XM_047448650.1:c.674C>T, XM_047448650.1:c.674C>G, XM_047448649.1:c.674C>T, XM_047448649.1:c.674C>G, NP_002871.1:p.Pro225Leu, NP_002871.1:p.Pro225Arg, NP_001341618.1:p.Pro225Leu, NP_001341618.1:p.Pro225Arg, NP_001341620.1:p.Pro144Leu, NP_001341620.1:p.Pro144Arg, NP_001341623.1:p.Pro144Leu, NP_001341623.1:p.Pro144Arg, NP_001341621.1:p.Pro144Leu, NP_001341621.1:p.Pro144Arg, NP_001341619.1:p.Pro225Leu, NP_001341619.1:p.Pro225Arg, XP_011532276.1:p.Pro225Leu, XP_011532276.1:p.Pro225Arg, XP_047304606.1:p.Pro225Leu, XP_047304606.1:p.Pro225Arg, XP_047304605.1:p.Pro225Leu, XP_047304605.1:p.Pro225Arg

                        12.

                        rs1471833190 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          3:12584514 (GRCh38)
                          3:12626013 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:12584513:C:A,NC_000003.12:12584513:C:G,NC_000003.12:12584513:C:T
                          Gene:
                          RAF1 (Varview)
                          Functional Consequence:
                          terminator_codon_variant,non_coding_transcript_variant,synonymous_variant,stop_lost
                          Clinical significance:
                          likely-benign,uncertain-significance
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.12584514C>A, NC_000003.12:g.12584514C>G, NC_000003.12:g.12584514C>T, NC_000003.11:g.12626013C>A, NC_000003.11:g.12626013C>G, NC_000003.11:g.12626013C>T, NG_007467.1:g.84666G>T, NG_007467.1:g.84666G>C, NG_007467.1:g.84666G>A, NM_002880.4:c.1947G>T, NM_002880.4:c.1947G>C, NM_002880.4:c.1947G>A, NM_002880.3:c.1947G>T, NM_002880.3:c.1947G>C, NM_002880.3:c.1947G>A, NR_148940.3:n.2391G>T, NR_148940.3:n.2391G>C, NR_148940.3:n.2391G>A, NR_148940.2:n.2391G>T, NR_148940.2:n.2391G>C, NR_148940.2:n.2391G>A, NR_148940.1:n.2475G>T, NR_148940.1:n.2475G>C, NR_148940.1:n.2475G>A, NM_001354689.3:c.2007G>T, NM_001354689.3:c.2007G>C, NM_001354689.3:c.2007G>A, NM_001354689.2:c.2007G>T, NM_001354689.2:c.2007G>C, NM_001354689.2:c.2007G>A, NM_001354689.1:c.2007G>T, NM_001354689.1:c.2007G>C, NM_001354689.1:c.2007G>A, NR_148941.3:n.2337G>T, NR_148941.3:n.2337G>C, NR_148941.3:n.2337G>A, NR_148941.2:n.2337G>T, NR_148941.2:n.2337G>C, NR_148941.2:n.2337G>A, NR_148941.1:n.2421G>T, NR_148941.1:n.2421G>C, NR_148941.1:n.2421G>A, NR_148942.3:n.2276G>T, NR_148942.3:n.2276G>C, NR_148942.3:n.2276G>A, NR_148942.2:n.2276G>T, NR_148942.2:n.2276G>C, NR_148942.2:n.2276G>A, NR_148942.1:n.2360G>T, NR_148942.1:n.2360G>C, NR_148942.1:n.2360G>A, NM_001354691.3:c.1704G>T, NM_001354691.3:c.1704G>C, NM_001354691.3:c.1704G>A, NM_001354691.2:c.1704G>T, NM_001354691.2:c.1704G>C, NM_001354691.2:c.1704G>A, NM_001354691.1:c.1704G>T, NM_001354691.1:c.1704G>C, NM_001354691.1:c.1704G>A, NM_001354694.3:c.1764G>T, NM_001354694.3:c.1764G>C, NM_001354694.3:c.1764G>A, NM_001354694.2:c.1764G>T, NM_001354694.2:c.1764G>C, NM_001354694.2:c.1764G>A, NM_001354694.1:c.1764G>T, NM_001354694.1:c.1764G>C, NM_001354694.1:c.1764G>A, NM_001354693.3:c.1848G>T, NM_001354693.3:c.1848G>C, NM_001354693.3:c.1848G>A, NM_001354693.2:c.1848G>T, NM_001354693.2:c.1848G>C, NM_001354693.2:c.1848G>A, NM_001354693.1:c.1848G>T, NM_001354693.1:c.1848G>C, NM_001354693.1:c.1848G>A, NM_001354692.3:c.1704G>T, NM_001354692.3:c.1704G>C, NM_001354692.3:c.1704G>A, NM_001354692.2:c.1704G>T, NM_001354692.2:c.1704G>C, NM_001354692.2:c.1704G>A, NM_001354692.1:c.1704G>T, NM_001354692.1:c.1704G>C, NM_001354692.1:c.1704G>A, NM_001354690.3:c.1947G>T, NM_001354690.3:c.1947G>C, NM_001354690.3:c.1947G>A, NM_001354690.2:c.1947G>T, NM_001354690.2:c.1947G>C, NM_001354690.2:c.1947G>A, NM_001354690.1:c.1947G>T, NM_001354690.1:c.1947G>C, NM_001354690.1:c.1947G>A, NM_001354695.3:c.1605G>T, NM_001354695.3:c.1605G>C, NM_001354695.3:c.1605G>A, NM_001354695.2:c.1605G>T, NM_001354695.2:c.1605G>C, NM_001354695.2:c.1605G>A, NM_001354695.1:c.1605G>T, NM_001354695.1:c.1605G>C, NM_001354695.1:c.1605G>A, XM_011533974.3:c.1947G>T, XM_011533974.3:c.1947G>C, XM_011533974.3:c.1947G>A, XM_011533974.2:c.1947G>T, XM_011533974.2:c.1947G>C, XM_011533974.2:c.1947G>A, XM_011533974.1:c.1947G>T, XM_011533974.1:c.1947G>C, XM_011533974.1:c.1947G>A, XM_047448651.1:c.1848G>T, XM_047448651.1:c.1848G>C, XM_047448651.1:c.1848G>A, XM_047448650.1:c.1947G>T, XM_047448650.1:c.1947G>C, XM_047448650.1:c.1947G>A, XM_047448649.1:c.1947G>T, XM_047448649.1:c.1947G>C, XM_047448649.1:c.1947G>A, XM_017006966.1:c.1848G>T, XM_017006966.1:c.1848G>C, XM_017006966.1:c.1848G>A, NP_002871.1:p.Ter649Tyr, NP_002871.1:p.Ter649Tyr, NP_001341618.1:p.Ter669Tyr, NP_001341618.1:p.Ter669Tyr, NP_001341620.1:p.Ter568Tyr, NP_001341620.1:p.Ter568Tyr, NP_001341623.1:p.Ter588Tyr, NP_001341623.1:p.Ter588Tyr, NP_001341622.1:p.Ter616Tyr, NP_001341622.1:p.Ter616Tyr, NP_001341621.1:p.Ter568Tyr, NP_001341621.1:p.Ter568Tyr, NP_001341619.1:p.Ter649Tyr, NP_001341619.1:p.Ter649Tyr, NP_001341624.1:p.Ter535Tyr, NP_001341624.1:p.Ter535Tyr, XP_011532276.1:p.Ter649Tyr, XP_011532276.1:p.Ter649Tyr, XP_047304607.1:p.Ter616Tyr, XP_047304607.1:p.Ter616Tyr, XP_047304606.1:p.Ter649Tyr, XP_047304606.1:p.Ter649Tyr, XP_047304605.1:p.Ter649Tyr, XP_047304605.1:p.Ter649Tyr, XP_016862455.1:p.Ter616Tyr, XP_016862455.1:p.Ter616Tyr

                          13.

                          rs1471680711 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            3:12609332 (GRCh38)
                            3:12650831 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:12609331:T:G
                            Gene:
                            RAF1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.12609332T>G, NC_000003.11:g.12650831T>G, NG_007467.1:g.59848A>C, NM_002880.4:c.324A>C, NM_002880.3:c.324A>C, NR_148940.3:n.655A>C, NR_148940.2:n.655A>C, NR_148940.1:n.739A>C, NM_001354689.3:c.324A>C, NM_001354689.2:c.324A>C, NM_001354689.1:c.324A>C, NR_148941.3:n.655A>C, NR_148941.2:n.655A>C, NR_148941.1:n.739A>C, NR_148942.3:n.655A>C, NR_148942.2:n.655A>C, NR_148942.1:n.739A>C, NM_001354691.3:c.81A>C, NM_001354691.2:c.81A>C, NM_001354691.1:c.81A>C, NM_001354694.3:c.81A>C, NM_001354694.2:c.81A>C, NM_001354694.1:c.81A>C, NM_001354693.3:c.324A>C, NM_001354693.2:c.324A>C, NM_001354693.1:c.324A>C, NM_001354692.3:c.81A>C, NM_001354692.2:c.81A>C, NM_001354692.1:c.81A>C, NM_001354690.3:c.324A>C, NM_001354690.2:c.324A>C, NM_001354690.1:c.324A>C, NM_001354695.3:c.81A>C, NM_001354695.2:c.81A>C, NM_001354695.1:c.81A>C, XM_011533974.3:c.324A>C, XM_011533974.2:c.324A>C, XM_011533974.1:c.324A>C, XM_047448651.1:c.324A>C, XM_047448650.1:c.324A>C, XM_047448649.1:c.324A>C, XM_017006966.1:c.324A>C, NP_002871.1:p.Lys108Asn, NP_001341618.1:p.Lys108Asn, NP_001341620.1:p.Lys27Asn, NP_001341623.1:p.Lys27Asn, NP_001341622.1:p.Lys108Asn, NP_001341621.1:p.Lys27Asn, NP_001341619.1:p.Lys108Asn, NP_001341624.1:p.Lys27Asn, XP_011532276.1:p.Lys108Asn, XP_047304607.1:p.Lys108Asn, XP_047304606.1:p.Lys108Asn, XP_047304605.1:p.Lys108Asn, XP_016862455.1:p.Lys108Asn

                            14.

                            rs1470487278 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              3:12618640 (GRCh38)
                              3:12660139 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:12618639:T:A,NC_000003.12:12618639:T:C
                              Gene:
                              RAF1 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000047/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.12618640T>A, NC_000003.12:g.12618640T>C, NC_000003.11:g.12660139T>A, NC_000003.11:g.12660139T>C, NG_007467.1:g.50540A>T, NG_007467.1:g.50540A>G, NM_002880.4:c.82A>T, NM_002880.4:c.82A>G, NM_002880.3:c.82A>T, NM_002880.3:c.82A>G, NR_148940.3:n.413A>T, NR_148940.3:n.413A>G, NR_148940.2:n.413A>T, NR_148940.2:n.413A>G, NR_148940.1:n.497A>T, NR_148940.1:n.497A>G, NM_001354689.3:c.82A>T, NM_001354689.3:c.82A>G, NM_001354689.2:c.82A>T, NM_001354689.2:c.82A>G, NM_001354689.1:c.82A>T, NM_001354689.1:c.82A>G, NR_148941.3:n.413A>T, NR_148941.3:n.413A>G, NR_148941.2:n.413A>T, NR_148941.2:n.413A>G, NR_148941.1:n.497A>T, NR_148941.1:n.497A>G, NR_148942.3:n.413A>T, NR_148942.3:n.413A>G, NR_148942.2:n.413A>T, NR_148942.2:n.413A>G, NR_148942.1:n.497A>T, NR_148942.1:n.497A>G, NM_001354691.3:c.-49A>T, NM_001354691.3:c.-49A>G, NM_001354691.2:c.-49A>T, NM_001354691.2:c.-49A>G, NM_001354691.1:c.-49A>T, NM_001354691.1:c.-49A>G, NM_001354694.3:c.-49A>T, NM_001354694.3:c.-49A>G, NM_001354694.2:c.-49A>T, NM_001354694.2:c.-49A>G, NM_001354694.1:c.-49A>T, NM_001354694.1:c.-49A>G, NM_001354693.3:c.82A>T, NM_001354693.3:c.82A>G, NM_001354693.2:c.82A>T, NM_001354693.2:c.82A>G, NM_001354693.1:c.82A>T, NM_001354693.1:c.82A>G, NM_001354692.3:c.-49A>T, NM_001354692.3:c.-49A>G, NM_001354692.2:c.-49A>T, NM_001354692.2:c.-49A>G, NM_001354692.1:c.-49A>T, NM_001354692.1:c.-49A>G, NM_001354690.3:c.82A>T, NM_001354690.3:c.82A>G, NM_001354690.2:c.82A>T, NM_001354690.2:c.82A>G, NM_001354690.1:c.82A>T, NM_001354690.1:c.82A>G, NM_001354695.3:c.-49A>T, NM_001354695.3:c.-49A>G, NM_001354695.2:c.-49A>T, NM_001354695.2:c.-49A>G, NM_001354695.1:c.-49A>T, NM_001354695.1:c.-49A>G, XM_011533974.3:c.82A>T, XM_011533974.3:c.82A>G, XM_011533974.2:c.82A>T, XM_011533974.2:c.82A>G, XM_011533974.1:c.82A>T, XM_011533974.1:c.82A>G, XM_047448651.1:c.82A>T, XM_047448651.1:c.82A>G, XM_047448650.1:c.82A>T, XM_047448650.1:c.82A>G, XM_047448649.1:c.82A>T, XM_047448649.1:c.82A>G, XM_017006966.1:c.82A>T, XM_017006966.1:c.82A>G, NP_002871.1:p.Ile28Phe, NP_002871.1:p.Ile28Val, NP_001341618.1:p.Ile28Phe, NP_001341618.1:p.Ile28Val, NP_001341622.1:p.Ile28Phe, NP_001341622.1:p.Ile28Val, NP_001341619.1:p.Ile28Phe, NP_001341619.1:p.Ile28Val, XP_011532276.1:p.Ile28Phe, XP_011532276.1:p.Ile28Val, XP_047304607.1:p.Ile28Phe, XP_047304607.1:p.Ile28Val, XP_047304606.1:p.Ile28Phe, XP_047304606.1:p.Ile28Val, XP_047304605.1:p.Ile28Phe, XP_047304605.1:p.Ile28Val, XP_016862455.1:p.Ile28Phe, XP_016862455.1:p.Ile28Val

                              15.

                              rs1463627261 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C,T [Show Flanks]
                                Chromosome:
                                3:12606285 (GRCh38)
                                3:12647784 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:12606284:G:A,NC_000003.12:12606284:G:C,NC_000003.12:12606284:G:T
                                Gene:
                                RAF1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.12606285G>A, NC_000003.12:g.12606285G>C, NC_000003.12:g.12606285G>T, NC_000003.11:g.12647784G>A, NC_000003.11:g.12647784G>C, NC_000003.11:g.12647784G>T, NG_007467.1:g.62895C>T, NG_007467.1:g.62895C>G, NG_007467.1:g.62895C>A, NM_002880.4:c.596C>T, NM_002880.4:c.596C>G, NM_002880.4:c.596C>A, NM_002880.3:c.596C>T, NM_002880.3:c.596C>G, NM_002880.3:c.596C>A, NR_148940.3:n.927C>T, NR_148940.3:n.927C>G, NR_148940.3:n.927C>A, NR_148940.2:n.927C>T, NR_148940.2:n.927C>G, NR_148940.2:n.927C>A, NR_148940.1:n.1011C>T, NR_148940.1:n.1011C>G, NR_148940.1:n.1011C>A, NM_001354689.3:c.596C>T, NM_001354689.3:c.596C>G, NM_001354689.3:c.596C>A, NM_001354689.2:c.596C>T, NM_001354689.2:c.596C>G, NM_001354689.2:c.596C>A, NM_001354689.1:c.596C>T, NM_001354689.1:c.596C>G, NM_001354689.1:c.596C>A, NR_148941.3:n.927C>T, NR_148941.3:n.927C>G, NR_148941.3:n.927C>A, NR_148941.2:n.927C>T, NR_148941.2:n.927C>G, NR_148941.2:n.927C>A, NR_148941.1:n.1011C>T, NR_148941.1:n.1011C>G, NR_148941.1:n.1011C>A, NR_148942.3:n.927C>T, NR_148942.3:n.927C>G, NR_148942.3:n.927C>A, NR_148942.2:n.927C>T, NR_148942.2:n.927C>G, NR_148942.2:n.927C>A, NR_148942.1:n.1011C>T, NR_148942.1:n.1011C>G, NR_148942.1:n.1011C>A, NM_001354691.3:c.353C>T, NM_001354691.3:c.353C>G, NM_001354691.3:c.353C>A, NM_001354691.2:c.353C>T, NM_001354691.2:c.353C>G, NM_001354691.2:c.353C>A, NM_001354691.1:c.353C>T, NM_001354691.1:c.353C>G, NM_001354691.1:c.353C>A, NM_001354694.3:c.353C>T, NM_001354694.3:c.353C>G, NM_001354694.3:c.353C>A, NM_001354694.2:c.353C>T, NM_001354694.2:c.353C>G, NM_001354694.2:c.353C>A, NM_001354694.1:c.353C>T, NM_001354694.1:c.353C>G, NM_001354694.1:c.353C>A, NM_001354692.3:c.353C>T, NM_001354692.3:c.353C>G, NM_001354692.3:c.353C>A, NM_001354692.2:c.353C>T, NM_001354692.2:c.353C>G, NM_001354692.2:c.353C>A, NM_001354692.1:c.353C>T, NM_001354692.1:c.353C>G, NM_001354692.1:c.353C>A, NM_001354690.3:c.596C>T, NM_001354690.3:c.596C>G, NM_001354690.3:c.596C>A, NM_001354690.2:c.596C>T, NM_001354690.2:c.596C>G, NM_001354690.2:c.596C>A, NM_001354690.1:c.596C>T, NM_001354690.1:c.596C>G, NM_001354690.1:c.596C>A, XM_011533974.3:c.596C>T, XM_011533974.3:c.596C>G, XM_011533974.3:c.596C>A, XM_011533974.2:c.596C>T, XM_011533974.2:c.596C>G, XM_011533974.2:c.596C>A, XM_011533974.1:c.596C>T, XM_011533974.1:c.596C>G, XM_011533974.1:c.596C>A, XM_047448650.1:c.596C>T, XM_047448650.1:c.596C>G, XM_047448650.1:c.596C>A, XM_047448649.1:c.596C>T, XM_047448649.1:c.596C>G, XM_047448649.1:c.596C>A, NP_002871.1:p.Ser199Phe, NP_002871.1:p.Ser199Cys, NP_002871.1:p.Ser199Tyr, NP_001341618.1:p.Ser199Phe, NP_001341618.1:p.Ser199Cys, NP_001341618.1:p.Ser199Tyr, NP_001341620.1:p.Ser118Phe, NP_001341620.1:p.Ser118Cys, NP_001341620.1:p.Ser118Tyr, NP_001341623.1:p.Ser118Phe, NP_001341623.1:p.Ser118Cys, NP_001341623.1:p.Ser118Tyr, NP_001341621.1:p.Ser118Phe, NP_001341621.1:p.Ser118Cys, NP_001341621.1:p.Ser118Tyr, NP_001341619.1:p.Ser199Phe, NP_001341619.1:p.Ser199Cys, NP_001341619.1:p.Ser199Tyr, XP_011532276.1:p.Ser199Phe, XP_011532276.1:p.Ser199Cys, XP_011532276.1:p.Ser199Tyr, XP_047304606.1:p.Ser199Phe, XP_047304606.1:p.Ser199Cys, XP_047304606.1:p.Ser199Tyr, XP_047304605.1:p.Ser199Phe, XP_047304605.1:p.Ser199Cys, XP_047304605.1:p.Ser199Tyr

                                16.

                                rs1463012063 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  3:12590851 (GRCh38)
                                  3:12632350 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:12590850:C:G,NC_000003.12:12590850:C:T
                                  Gene:
                                  RAF1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000003.12:g.12590851C>G, NC_000003.12:g.12590851C>T, NC_000003.11:g.12632350C>G, NC_000003.11:g.12632350C>T, NG_007467.1:g.78329G>C, NG_007467.1:g.78329G>A, NM_002880.4:c.1317G>C, NM_002880.4:c.1317G>A, NM_002880.3:c.1317G>C, NM_002880.3:c.1317G>A, NR_148940.3:n.1761G>C, NR_148940.3:n.1761G>A, NR_148940.2:n.1761G>C, NR_148940.2:n.1761G>A, NR_148940.1:n.1845G>C, NR_148940.1:n.1845G>A, NM_001354689.3:c.1377G>C, NM_001354689.3:c.1377G>A, NM_001354689.2:c.1377G>C, NM_001354689.2:c.1377G>A, NM_001354689.1:c.1377G>C, NM_001354689.1:c.1377G>A, NR_148941.3:n.1707G>C, NR_148941.3:n.1707G>A, NR_148941.2:n.1707G>C, NR_148941.2:n.1707G>A, NR_148941.1:n.1791G>C, NR_148941.1:n.1791G>A, NR_148942.3:n.1646G>C, NR_148942.3:n.1646G>A, NR_148942.2:n.1646G>C, NR_148942.2:n.1646G>A, NR_148942.1:n.1730G>C, NR_148942.1:n.1730G>A, NM_001354691.3:c.1074G>C, NM_001354691.3:c.1074G>A, NM_001354691.2:c.1074G>C, NM_001354691.2:c.1074G>A, NM_001354691.1:c.1074G>C, NM_001354691.1:c.1074G>A, NM_001354694.3:c.1134G>C, NM_001354694.3:c.1134G>A, NM_001354694.2:c.1134G>C, NM_001354694.2:c.1134G>A, NM_001354694.1:c.1134G>C, NM_001354694.1:c.1134G>A, NM_001354693.3:c.1218G>C, NM_001354693.3:c.1218G>A, NM_001354693.2:c.1218G>C, NM_001354693.2:c.1218G>A, NM_001354693.1:c.1218G>C, NM_001354693.1:c.1218G>A, NM_001354692.3:c.1074G>C, NM_001354692.3:c.1074G>A, NM_001354692.2:c.1074G>C, NM_001354692.2:c.1074G>A, NM_001354692.1:c.1074G>C, NM_001354692.1:c.1074G>A, NM_001354690.3:c.1317G>C, NM_001354690.3:c.1317G>A, NM_001354690.2:c.1317G>C, NM_001354690.2:c.1317G>A, NM_001354690.1:c.1317G>C, NM_001354690.1:c.1317G>A, NM_001354695.3:c.975G>C, NM_001354695.3:c.975G>A, NM_001354695.2:c.975G>C, NM_001354695.2:c.975G>A, NM_001354695.1:c.975G>C, NM_001354695.1:c.975G>A, XM_011533974.3:c.1317G>C, XM_011533974.3:c.1317G>A, XM_011533974.2:c.1317G>C, XM_011533974.2:c.1317G>A, XM_011533974.1:c.1317G>C, XM_011533974.1:c.1317G>A, XM_047448651.1:c.1218G>C, XM_047448651.1:c.1218G>A, XM_047448650.1:c.1317G>C, XM_047448650.1:c.1317G>A, XM_047448649.1:c.1317G>C, XM_047448649.1:c.1317G>A, XM_017006966.1:c.1218G>C, XM_017006966.1:c.1218G>A, NP_002871.1:p.Lys439Asn, NP_001341618.1:p.Lys459Asn, NP_001341620.1:p.Lys358Asn, NP_001341623.1:p.Lys378Asn, NP_001341622.1:p.Lys406Asn, NP_001341621.1:p.Lys358Asn, NP_001341619.1:p.Lys439Asn, NP_001341624.1:p.Lys325Asn, XP_011532276.1:p.Lys439Asn, XP_047304607.1:p.Lys406Asn, XP_047304606.1:p.Lys439Asn, XP_047304605.1:p.Lys439Asn, XP_016862455.1:p.Lys406Asn

                                  17.

                                  rs1458877448 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    3:12591753 (GRCh38)
                                    3:12633252 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:12591752:G:A,NC_000003.12:12591752:G:C,NC_000003.12:12591752:G:T
                                    Gene:
                                    RAF1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.12591753G>A, NC_000003.12:g.12591753G>C, NC_000003.12:g.12591753G>T, NC_000003.11:g.12633252G>A, NC_000003.11:g.12633252G>C, NC_000003.11:g.12633252G>T, NG_007467.1:g.77427C>T, NG_007467.1:g.77427C>G, NG_007467.1:g.77427C>A, NM_002880.4:c.1148C>T, NM_002880.4:c.1148C>G, NM_002880.4:c.1148C>A, NM_002880.3:c.1148C>T, NM_002880.3:c.1148C>G, NM_002880.3:c.1148C>A, NR_148940.3:n.1592C>T, NR_148940.3:n.1592C>G, NR_148940.3:n.1592C>A, NR_148940.2:n.1592C>T, NR_148940.2:n.1592C>G, NR_148940.2:n.1592C>A, NR_148940.1:n.1676C>T, NR_148940.1:n.1676C>G, NR_148940.1:n.1676C>A, NM_001354689.3:c.1208C>T, NM_001354689.3:c.1208C>G, NM_001354689.3:c.1208C>A, NM_001354689.2:c.1208C>T, NM_001354689.2:c.1208C>G, NM_001354689.2:c.1208C>A, NM_001354689.1:c.1208C>T, NM_001354689.1:c.1208C>G, NM_001354689.1:c.1208C>A, NR_148941.3:n.1538C>T, NR_148941.3:n.1538C>G, NR_148941.3:n.1538C>A, NR_148941.2:n.1538C>T, NR_148941.2:n.1538C>G, NR_148941.2:n.1538C>A, NR_148941.1:n.1622C>T, NR_148941.1:n.1622C>G, NR_148941.1:n.1622C>A, NR_148942.3:n.1477C>T, NR_148942.3:n.1477C>G, NR_148942.3:n.1477C>A, NR_148942.2:n.1477C>T, NR_148942.2:n.1477C>G, NR_148942.2:n.1477C>A, NR_148942.1:n.1561C>T, NR_148942.1:n.1561C>G, NR_148942.1:n.1561C>A, NM_001354691.3:c.905C>T, NM_001354691.3:c.905C>G, NM_001354691.3:c.905C>A, NM_001354691.2:c.905C>T, NM_001354691.2:c.905C>G, NM_001354691.2:c.905C>A, NM_001354691.1:c.905C>T, NM_001354691.1:c.905C>G, NM_001354691.1:c.905C>A, NM_001354694.3:c.965C>T, NM_001354694.3:c.965C>G, NM_001354694.3:c.965C>A, NM_001354694.2:c.965C>T, NM_001354694.2:c.965C>G, NM_001354694.2:c.965C>A, NM_001354694.1:c.965C>T, NM_001354694.1:c.965C>G, NM_001354694.1:c.965C>A, NM_001354693.3:c.1049C>T, NM_001354693.3:c.1049C>G, NM_001354693.3:c.1049C>A, NM_001354693.2:c.1049C>T, NM_001354693.2:c.1049C>G, NM_001354693.2:c.1049C>A, NM_001354693.1:c.1049C>T, NM_001354693.1:c.1049C>G, NM_001354693.1:c.1049C>A, NM_001354692.3:c.905C>T, NM_001354692.3:c.905C>G, NM_001354692.3:c.905C>A, NM_001354692.2:c.905C>T, NM_001354692.2:c.905C>G, NM_001354692.2:c.905C>A, NM_001354692.1:c.905C>T, NM_001354692.1:c.905C>G, NM_001354692.1:c.905C>A, NM_001354690.3:c.1148C>T, NM_001354690.3:c.1148C>G, NM_001354690.3:c.1148C>A, NM_001354690.2:c.1148C>T, NM_001354690.2:c.1148C>G, NM_001354690.2:c.1148C>A, NM_001354690.1:c.1148C>T, NM_001354690.1:c.1148C>G, NM_001354690.1:c.1148C>A, NM_001354695.3:c.806C>T, NM_001354695.3:c.806C>G, NM_001354695.3:c.806C>A, NM_001354695.2:c.806C>T, NM_001354695.2:c.806C>G, NM_001354695.2:c.806C>A, NM_001354695.1:c.806C>T, NM_001354695.1:c.806C>G, NM_001354695.1:c.806C>A, XM_011533974.3:c.1148C>T, XM_011533974.3:c.1148C>G, XM_011533974.3:c.1148C>A, XM_011533974.2:c.1148C>T, XM_011533974.2:c.1148C>G, XM_011533974.2:c.1148C>A, XM_011533974.1:c.1148C>T, XM_011533974.1:c.1148C>G, XM_011533974.1:c.1148C>A, XM_047448651.1:c.1049C>T, XM_047448651.1:c.1049C>G, XM_047448651.1:c.1049C>A, XM_047448650.1:c.1148C>T, XM_047448650.1:c.1148C>G, XM_047448650.1:c.1148C>A, XM_047448649.1:c.1148C>T, XM_047448649.1:c.1148C>G, XM_047448649.1:c.1148C>A, XM_017006966.1:c.1049C>T, XM_017006966.1:c.1049C>G, XM_017006966.1:c.1049C>A, NP_002871.1:p.Thr383Ile, NP_002871.1:p.Thr383Ser, NP_002871.1:p.Thr383Asn, NP_001341618.1:p.Thr403Ile, NP_001341618.1:p.Thr403Ser, NP_001341618.1:p.Thr403Asn, NP_001341620.1:p.Thr302Ile, NP_001341620.1:p.Thr302Ser, NP_001341620.1:p.Thr302Asn, NP_001341623.1:p.Thr322Ile, NP_001341623.1:p.Thr322Ser, NP_001341623.1:p.Thr322Asn, NP_001341622.1:p.Thr350Ile, NP_001341622.1:p.Thr350Ser, NP_001341622.1:p.Thr350Asn, NP_001341621.1:p.Thr302Ile, NP_001341621.1:p.Thr302Ser, NP_001341621.1:p.Thr302Asn, NP_001341619.1:p.Thr383Ile, NP_001341619.1:p.Thr383Ser, NP_001341619.1:p.Thr383Asn, NP_001341624.1:p.Thr269Ile, NP_001341624.1:p.Thr269Ser, NP_001341624.1:p.Thr269Asn, XP_011532276.1:p.Thr383Ile, XP_011532276.1:p.Thr383Ser, XP_011532276.1:p.Thr383Asn, XP_047304607.1:p.Thr350Ile, XP_047304607.1:p.Thr350Ser, XP_047304607.1:p.Thr350Asn, XP_047304606.1:p.Thr383Ile, XP_047304606.1:p.Thr383Ser, XP_047304606.1:p.Thr383Asn, XP_047304605.1:p.Thr383Ile, XP_047304605.1:p.Thr383Ser, XP_047304605.1:p.Thr383Asn, XP_016862455.1:p.Thr350Ile, XP_016862455.1:p.Thr350Ser, XP_016862455.1:p.Thr350Asn

                                    18.

                                    rs1458313379 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      3:12604159 (GRCh38)
                                      3:12645658 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:12604158:G:A,NC_000003.12:12604158:G:C,NC_000003.12:12604158:G:T
                                      Gene:
                                      RAF1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.12604159G>A, NC_000003.12:g.12604159G>C, NC_000003.12:g.12604159G>T, NC_000003.11:g.12645658G>A, NC_000003.11:g.12645658G>C, NC_000003.11:g.12645658G>T, NG_007467.1:g.65021C>T, NG_007467.1:g.65021C>G, NG_007467.1:g.65021C>A, NM_002880.4:c.811C>T, NM_002880.4:c.811C>G, NM_002880.4:c.811C>A, NM_002880.3:c.811C>T, NM_002880.3:c.811C>G, NM_002880.3:c.811C>A, NR_148940.3:n.1142C>T, NR_148940.3:n.1142C>G, NR_148940.3:n.1142C>A, NR_148940.2:n.1142C>T, NR_148940.2:n.1142C>G, NR_148940.2:n.1142C>A, NR_148940.1:n.1226C>T, NR_148940.1:n.1226C>G, NR_148940.1:n.1226C>A, NM_001354689.3:c.811C>T, NM_001354689.3:c.811C>G, NM_001354689.3:c.811C>A, NM_001354689.2:c.811C>T, NM_001354689.2:c.811C>G, NM_001354689.2:c.811C>A, NM_001354689.1:c.811C>T, NM_001354689.1:c.811C>G, NM_001354689.1:c.811C>A, NR_148941.3:n.1142C>T, NR_148941.3:n.1142C>G, NR_148941.3:n.1142C>A, NR_148941.2:n.1142C>T, NR_148941.2:n.1142C>G, NR_148941.2:n.1142C>A, NR_148941.1:n.1226C>T, NR_148941.1:n.1226C>G, NR_148941.1:n.1226C>A, NR_148942.3:n.1142C>T, NR_148942.3:n.1142C>G, NR_148942.3:n.1142C>A, NR_148942.2:n.1142C>T, NR_148942.2:n.1142C>G, NR_148942.2:n.1142C>A, NR_148942.1:n.1226C>T, NR_148942.1:n.1226C>G, NR_148942.1:n.1226C>A, NM_001354691.3:c.568C>T, NM_001354691.3:c.568C>G, NM_001354691.3:c.568C>A, NM_001354691.2:c.568C>T, NM_001354691.2:c.568C>G, NM_001354691.2:c.568C>A, NM_001354691.1:c.568C>T, NM_001354691.1:c.568C>G, NM_001354691.1:c.568C>A, NM_001354694.3:c.568C>T, NM_001354694.3:c.568C>G, NM_001354694.3:c.568C>A, NM_001354694.2:c.568C>T, NM_001354694.2:c.568C>G, NM_001354694.2:c.568C>A, NM_001354694.1:c.568C>T, NM_001354694.1:c.568C>G, NM_001354694.1:c.568C>A, NM_001354693.3:c.712C>T, NM_001354693.3:c.712C>G, NM_001354693.3:c.712C>A, NM_001354693.2:c.712C>T, NM_001354693.2:c.712C>G, NM_001354693.2:c.712C>A, NM_001354693.1:c.712C>T, NM_001354693.1:c.712C>G, NM_001354693.1:c.712C>A, NM_001354692.3:c.568C>T, NM_001354692.3:c.568C>G, NM_001354692.3:c.568C>A, NM_001354692.2:c.568C>T, NM_001354692.2:c.568C>G, NM_001354692.2:c.568C>A, NM_001354692.1:c.568C>T, NM_001354692.1:c.568C>G, NM_001354692.1:c.568C>A, NM_001354690.3:c.811C>T, NM_001354690.3:c.811C>G, NM_001354690.3:c.811C>A, NM_001354690.2:c.811C>T, NM_001354690.2:c.811C>G, NM_001354690.2:c.811C>A, NM_001354690.1:c.811C>T, NM_001354690.1:c.811C>G, NM_001354690.1:c.811C>A, NM_001354695.3:c.469C>T, NM_001354695.3:c.469C>G, NM_001354695.3:c.469C>A, NM_001354695.2:c.469C>T, NM_001354695.2:c.469C>G, NM_001354695.2:c.469C>A, NM_001354695.1:c.469C>T, NM_001354695.1:c.469C>G, NM_001354695.1:c.469C>A, XM_011533974.3:c.811C>T, XM_011533974.3:c.811C>G, XM_011533974.3:c.811C>A, XM_011533974.2:c.811C>T, XM_011533974.2:c.811C>G, XM_011533974.2:c.811C>A, XM_011533974.1:c.811C>T, XM_011533974.1:c.811C>G, XM_011533974.1:c.811C>A, XM_047448651.1:c.712C>T, XM_047448651.1:c.712C>G, XM_047448651.1:c.712C>A, XM_047448650.1:c.811C>T, XM_047448650.1:c.811C>G, XM_047448650.1:c.811C>A, XM_047448649.1:c.811C>T, XM_047448649.1:c.811C>G, XM_047448649.1:c.811C>A, XM_017006966.1:c.712C>T, XM_017006966.1:c.712C>G, XM_017006966.1:c.712C>A, NP_002871.1:p.Pro271Ser, NP_002871.1:p.Pro271Ala, NP_002871.1:p.Pro271Thr, NP_001341618.1:p.Pro271Ser, NP_001341618.1:p.Pro271Ala, NP_001341618.1:p.Pro271Thr, NP_001341620.1:p.Pro190Ser, NP_001341620.1:p.Pro190Ala, NP_001341620.1:p.Pro190Thr, NP_001341623.1:p.Pro190Ser, NP_001341623.1:p.Pro190Ala, NP_001341623.1:p.Pro190Thr, NP_001341622.1:p.Pro238Ser, NP_001341622.1:p.Pro238Ala, NP_001341622.1:p.Pro238Thr, NP_001341621.1:p.Pro190Ser, NP_001341621.1:p.Pro190Ala, NP_001341621.1:p.Pro190Thr, NP_001341619.1:p.Pro271Ser, NP_001341619.1:p.Pro271Ala, NP_001341619.1:p.Pro271Thr, NP_001341624.1:p.Pro157Ser, NP_001341624.1:p.Pro157Ala, NP_001341624.1:p.Pro157Thr, XP_011532276.1:p.Pro271Ser, XP_011532276.1:p.Pro271Ala, XP_011532276.1:p.Pro271Thr, XP_047304607.1:p.Pro238Ser, XP_047304607.1:p.Pro238Ala, XP_047304607.1:p.Pro238Thr, XP_047304606.1:p.Pro271Ser, XP_047304606.1:p.Pro271Ala, XP_047304606.1:p.Pro271Thr, XP_047304605.1:p.Pro271Ser, XP_047304605.1:p.Pro271Ala, XP_047304605.1:p.Pro271Thr, XP_016862455.1:p.Pro238Ser, XP_016862455.1:p.Pro238Ala, XP_016862455.1:p.Pro238Thr

                                      19.

                                      rs1457670031 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C,T [Show Flanks]
                                        Chromosome:
                                        3:12604215 (GRCh38)
                                        3:12645714 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:12604214:G:A,NC_000003.12:12604214:G:C,NC_000003.12:12604214:G:T
                                        Gene:
                                        RAF1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        T=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000003.12:g.12604215G>A, NC_000003.12:g.12604215G>C, NC_000003.12:g.12604215G>T, NC_000003.11:g.12645714G>A, NC_000003.11:g.12645714G>C, NC_000003.11:g.12645714G>T, NG_007467.1:g.64965C>T, NG_007467.1:g.64965C>G, NG_007467.1:g.64965C>A, NM_002880.4:c.755C>T, NM_002880.4:c.755C>G, NM_002880.4:c.755C>A, NM_002880.3:c.755C>T, NM_002880.3:c.755C>G, NM_002880.3:c.755C>A, NR_148940.3:n.1086C>T, NR_148940.3:n.1086C>G, NR_148940.3:n.1086C>A, NR_148940.2:n.1086C>T, NR_148940.2:n.1086C>G, NR_148940.2:n.1086C>A, NR_148940.1:n.1170C>T, NR_148940.1:n.1170C>G, NR_148940.1:n.1170C>A, NM_001354689.3:c.755C>T, NM_001354689.3:c.755C>G, NM_001354689.3:c.755C>A, NM_001354689.2:c.755C>T, NM_001354689.2:c.755C>G, NM_001354689.2:c.755C>A, NM_001354689.1:c.755C>T, NM_001354689.1:c.755C>G, NM_001354689.1:c.755C>A, NR_148941.3:n.1086C>T, NR_148941.3:n.1086C>G, NR_148941.3:n.1086C>A, NR_148941.2:n.1086C>T, NR_148941.2:n.1086C>G, NR_148941.2:n.1086C>A, NR_148941.1:n.1170C>T, NR_148941.1:n.1170C>G, NR_148941.1:n.1170C>A, NR_148942.3:n.1086C>T, NR_148942.3:n.1086C>G, NR_148942.3:n.1086C>A, NR_148942.2:n.1086C>T, NR_148942.2:n.1086C>G, NR_148942.2:n.1086C>A, NR_148942.1:n.1170C>T, NR_148942.1:n.1170C>G, NR_148942.1:n.1170C>A, NM_001354691.3:c.512C>T, NM_001354691.3:c.512C>G, NM_001354691.3:c.512C>A, NM_001354691.2:c.512C>T, NM_001354691.2:c.512C>G, NM_001354691.2:c.512C>A, NM_001354691.1:c.512C>T, NM_001354691.1:c.512C>G, NM_001354691.1:c.512C>A, NM_001354694.3:c.512C>T, NM_001354694.3:c.512C>G, NM_001354694.3:c.512C>A, NM_001354694.2:c.512C>T, NM_001354694.2:c.512C>G, NM_001354694.2:c.512C>A, NM_001354694.1:c.512C>T, NM_001354694.1:c.512C>G, NM_001354694.1:c.512C>A, NM_001354693.3:c.656C>T, NM_001354693.3:c.656C>G, NM_001354693.3:c.656C>A, NM_001354693.2:c.656C>T, NM_001354693.2:c.656C>G, NM_001354693.2:c.656C>A, NM_001354693.1:c.656C>T, NM_001354693.1:c.656C>G, NM_001354693.1:c.656C>A, NM_001354692.3:c.512C>T, NM_001354692.3:c.512C>G, NM_001354692.3:c.512C>A, NM_001354692.2:c.512C>T, NM_001354692.2:c.512C>G, NM_001354692.2:c.512C>A, NM_001354692.1:c.512C>T, NM_001354692.1:c.512C>G, NM_001354692.1:c.512C>A, NM_001354690.3:c.755C>T, NM_001354690.3:c.755C>G, NM_001354690.3:c.755C>A, NM_001354690.2:c.755C>T, NM_001354690.2:c.755C>G, NM_001354690.2:c.755C>A, NM_001354690.1:c.755C>T, NM_001354690.1:c.755C>G, NM_001354690.1:c.755C>A, NM_001354695.3:c.413C>T, NM_001354695.3:c.413C>G, NM_001354695.3:c.413C>A, NM_001354695.2:c.413C>T, NM_001354695.2:c.413C>G, NM_001354695.2:c.413C>A, NM_001354695.1:c.413C>T, NM_001354695.1:c.413C>G, NM_001354695.1:c.413C>A, XM_011533974.3:c.755C>T, XM_011533974.3:c.755C>G, XM_011533974.3:c.755C>A, XM_011533974.2:c.755C>T, XM_011533974.2:c.755C>G, XM_011533974.2:c.755C>A, XM_011533974.1:c.755C>T, XM_011533974.1:c.755C>G, XM_011533974.1:c.755C>A, XM_047448651.1:c.656C>T, XM_047448651.1:c.656C>G, XM_047448651.1:c.656C>A, XM_047448650.1:c.755C>T, XM_047448650.1:c.755C>G, XM_047448650.1:c.755C>A, XM_047448649.1:c.755C>T, XM_047448649.1:c.755C>G, XM_047448649.1:c.755C>A, XM_017006966.1:c.656C>T, XM_017006966.1:c.656C>G, XM_017006966.1:c.656C>A, NP_002871.1:p.Ser252Phe, NP_002871.1:p.Ser252Cys, NP_002871.1:p.Ser252Tyr, NP_001341618.1:p.Ser252Phe, NP_001341618.1:p.Ser252Cys, NP_001341618.1:p.Ser252Tyr, NP_001341620.1:p.Ser171Phe, NP_001341620.1:p.Ser171Cys, NP_001341620.1:p.Ser171Tyr, NP_001341623.1:p.Ser171Phe, NP_001341623.1:p.Ser171Cys, NP_001341623.1:p.Ser171Tyr, NP_001341622.1:p.Ser219Phe, NP_001341622.1:p.Ser219Cys, NP_001341622.1:p.Ser219Tyr, NP_001341621.1:p.Ser171Phe, NP_001341621.1:p.Ser171Cys, NP_001341621.1:p.Ser171Tyr, NP_001341619.1:p.Ser252Phe, NP_001341619.1:p.Ser252Cys, NP_001341619.1:p.Ser252Tyr, NP_001341624.1:p.Ser138Phe, NP_001341624.1:p.Ser138Cys, NP_001341624.1:p.Ser138Tyr, XP_011532276.1:p.Ser252Phe, XP_011532276.1:p.Ser252Cys, XP_011532276.1:p.Ser252Tyr, XP_047304607.1:p.Ser219Phe, XP_047304607.1:p.Ser219Cys, XP_047304607.1:p.Ser219Tyr, XP_047304606.1:p.Ser252Phe, XP_047304606.1:p.Ser252Cys, XP_047304606.1:p.Ser252Tyr, XP_047304605.1:p.Ser252Phe, XP_047304605.1:p.Ser252Cys, XP_047304605.1:p.Ser252Tyr, XP_016862455.1:p.Ser219Phe, XP_016862455.1:p.Ser219Cys, XP_016862455.1:p.Ser219Tyr

                                        20.

                                        rs1455454651 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTG>- [Show Flanks]
                                          Chromosome:
                                          3:12585135 (GRCh38)
                                          3:12626634 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:12585130:GTTGTTG:GTTG
                                          Gene:
                                          RAF1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GTTG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.12585132TTG[1], NC_000003.11:g.12626631TTG[1], NG_007467.1:g.84044AAC[1], NM_002880.4:c.1654AAC[1], NM_002880.3:c.1654AAC[1], NR_148940.3:n.2098AAC[1], NR_148940.2:n.2098AAC[1], NR_148940.1:n.2182AAC[1], NM_001354689.3:c.1714AAC[1], NM_001354689.2:c.1714AAC[1], NM_001354689.1:c.1714AAC[1], NR_148941.3:n.2044AAC[1], NR_148941.2:n.2044AAC[1], NR_148941.1:n.2128AAC[1], NR_148942.3:n.1983AAC[1], NR_148942.2:n.1983AAC[1], NR_148942.1:n.2067AAC[1], NM_001354691.3:c.1411AAC[1], NM_001354691.2:c.1411AAC[1], NM_001354691.1:c.1411AAC[1], NM_001354694.3:c.1471AAC[1], NM_001354694.2:c.1471AAC[1], NM_001354694.1:c.1471AAC[1], NM_001354693.3:c.1555AAC[1], NM_001354693.2:c.1555AAC[1], NM_001354693.1:c.1555AAC[1], NM_001354692.3:c.1411AAC[1], NM_001354692.2:c.1411AAC[1], NM_001354692.1:c.1411AAC[1], NM_001354690.3:c.1654AAC[1], NM_001354690.2:c.1654AAC[1], NM_001354690.1:c.1654AAC[1], NM_001354695.3:c.1312AAC[1], NM_001354695.2:c.1312AAC[1], NM_001354695.1:c.1312AAC[1], XM_011533974.3:c.1654AAC[1], XM_011533974.2:c.1654AAC[1], XM_011533974.1:c.1654AAC[1], XM_047448651.1:c.1555AAC[1], XM_047448650.1:c.1654AAC[1], XM_047448649.1:c.1654AAC[1], XM_017006966.1:c.1555AAC[1], NP_002871.1:p.Asn553del, NP_001341618.1:p.Asn573del, NP_001341620.1:p.Asn472del, NP_001341623.1:p.Asn492del, NP_001341622.1:p.Asn520del, NP_001341621.1:p.Asn472del, NP_001341619.1:p.Asn553del, NP_001341624.1:p.Asn439del, XP_011532276.1:p.Asn553del, XP_047304607.1:p.Asn520del, XP_047304606.1:p.Asn553del, XP_047304605.1:p.Asn553del, XP_016862455.1:p.Asn520del

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