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Items: 1 to 20 of 160

1.

rs1490756504 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:142613988 (GRCh38)
    5:141993553 (GRCh37)
    Canonical SPDI:
    NC_000005.10:142613987:T:C
    Gene:
    FGF1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000005.10:g.142613988T>C, NC_000005.9:g.141993553T>C, NM_000800.5:c.140A>G, NM_000800.4:c.140A>G, NM_033136.4:c.140A>G, NM_033136.3:c.140A>G, NM_033137.4:c.140A>G, NM_033137.3:c.140A>G, NM_033137.2:c.140A>G, NM_001144892.3:c.140A>G, NM_001144892.2:c.140A>G, NM_001354955.2:c.140A>G, NM_001354955.1:c.140A>G, NM_001354954.2:c.140A>G, NM_001354954.1:c.140A>G, NM_001354963.2:c.140A>G, NM_001354963.1:c.140A>G, NM_001257206.2:c.140A>G, NM_001257206.1:c.140A>G, NM_001354951.2:c.140A>G, NM_001354951.1:c.140A>G, NM_001354953.2:c.140A>G, NM_001354953.1:c.140A>G, NM_001354957.2:c.140A>G, NM_001354957.1:c.140A>G, NM_001354959.2:c.140A>G, NM_001354959.1:c.140A>G, NM_001354956.2:c.140A>G, NM_001354956.1:c.140A>G, NM_001354961.2:c.140A>G, NM_001354961.1:c.140A>G, NM_001144934.2:c.140A>G, NM_001144934.1:c.140A>G, NM_001354958.2:c.140A>G, NM_001354958.1:c.140A>G, NM_001354952.2:c.140A>G, NM_001354952.1:c.140A>G, NM_001257207.2:c.140A>G, NM_001257207.1:c.140A>G, NM_001257208.2:c.140A>G, NM_001257208.1:c.140A>G, NM_001257211.2:c.140A>G, NM_001257211.1:c.140A>G, NM_001257210.2:c.140A>G, NM_001257210.1:c.140A>G, NM_001144935.2:c.140A>G, NM_001144935.1:c.140A>G, NM_001354964.2:c.140A>G, NM_001354964.1:c.140A>G, NM_001257212.2:c.140A>G, NM_001257212.1:c.140A>G, NM_001354962.2:c.140A>G, NM_001354962.1:c.140A>G, NR_026695.1:n.623A>G, NM_001257205.1:c.140A>G, NR_026696.1:n.623A>G, NM_001257209.1:c.140A>G, NP_000791.1:p.Asp47Gly, NP_149127.1:p.Asp47Gly, NP_149128.1:p.Asp47Gly, NP_001138364.1:p.Asp47Gly, NP_001341884.1:p.Asp47Gly, NP_001341883.1:p.Asp47Gly, NP_001341892.1:p.Asp47Gly, NP_001244135.1:p.Asp47Gly, NP_001341880.1:p.Asp47Gly, NP_001341882.1:p.Asp47Gly, NP_001341886.1:p.Asp47Gly, NP_001341888.1:p.Asp47Gly, NP_001341885.1:p.Asp47Gly, NP_001341890.1:p.Asp47Gly, NP_001138406.1:p.Asp47Gly, NP_001341887.1:p.Asp47Gly, NP_001341881.1:p.Asp47Gly, NP_001244136.1:p.Asp47Gly, NP_001244137.1:p.Asp47Gly, NP_001244140.1:p.Asp47Gly, NP_001244139.1:p.Asp47Gly, NP_001138407.1:p.Asp47Gly, NP_001341893.1:p.Asp47Gly, NP_001244141.1:p.Asp47Gly, NP_001341891.1:p.Asp47Gly, NP_001244134.1:p.Asp47Gly, NP_001244138.1:p.Asp47Gly

    2.

    rs1488617074 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:142600722 (GRCh38)
      5:141980287 (GRCh37)
      Canonical SPDI:
      NC_000005.10:142600721:C:T
      Gene:
      FGF1 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000016/4 (GnomAD_exomes)
      T=0.000023/6 (TOPMED)
      T=0.000036/5 (GnomAD)
      HGVS:
      NC_000005.10:g.142600722C>T, NC_000005.9:g.141980287C>T, NM_000800.5:c.253G>A, NM_000800.4:c.253G>A, NM_001144892.3:c.253G>A, NM_001144892.2:c.253G>A, NM_001354955.2:c.253G>A, NM_001354955.1:c.253G>A, NM_001354954.2:c.253G>A, NM_001354954.1:c.253G>A, NM_001257206.2:c.253G>A, NM_001257206.1:c.253G>A, NM_001354951.2:c.253G>A, NM_001354951.1:c.253G>A, NM_001354953.2:c.253G>A, NM_001354953.1:c.253G>A, NM_001354957.2:c.253G>A, NM_001354957.1:c.253G>A, NM_001354956.2:c.253G>A, NM_001354956.1:c.253G>A, NM_001144934.2:c.253G>A, NM_001144934.1:c.253G>A, NM_001354958.2:c.253G>A, NM_001354958.1:c.253G>A, NM_001354952.2:c.253G>A, NM_001354952.1:c.253G>A, NM_001257207.2:c.253G>A, NM_001257207.1:c.253G>A, NM_001257208.2:c.253G>A, NM_001257208.1:c.253G>A, NM_001257211.2:c.253G>A, NM_001257211.1:c.253G>A, NM_001257210.2:c.253G>A, NM_001257210.1:c.253G>A, NM_001144935.2:c.253G>A, NM_001144935.1:c.253G>A, NM_001257212.2:c.253G>A, NM_001257212.1:c.253G>A, NR_026695.1:n.736G>A, NM_001257205.1:c.253G>A, NR_026696.1:n.736G>A, NM_001257209.1:c.253G>A, NP_000791.1:p.Asp85Asn, NP_001138364.1:p.Asp85Asn, NP_001341884.1:p.Asp85Asn, NP_001341883.1:p.Asp85Asn, NP_001244135.1:p.Asp85Asn, NP_001341880.1:p.Asp85Asn, NP_001341882.1:p.Asp85Asn, NP_001341886.1:p.Asp85Asn, NP_001341885.1:p.Asp85Asn, NP_001138406.1:p.Asp85Asn, NP_001341887.1:p.Asp85Asn, NP_001341881.1:p.Asp85Asn, NP_001244136.1:p.Asp85Asn, NP_001244137.1:p.Asp85Asn, NP_001244140.1:p.Asp85Asn, NP_001244139.1:p.Asp85Asn, NP_001138407.1:p.Asp85Asn, NP_001244141.1:p.Asp85Asn, NP_001244134.1:p.Asp85Asn, NP_001244138.1:p.Asp85Asn

      3.

      rs1461312310 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        5:142614104 (GRCh38)
        5:141993669 (GRCh37)
        Canonical SPDI:
        NC_000005.10:142614103:G:A,NC_000005.10:142614103:G:T
        Gene:
        FGF1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000005.10:g.142614104G>A, NC_000005.10:g.142614104G>T, NC_000005.9:g.141993669G>A, NC_000005.9:g.141993669G>T, NM_000800.5:c.24C>T, NM_000800.5:c.24C>A, NM_000800.4:c.24C>T, NM_000800.4:c.24C>A, NM_033136.4:c.24C>T, NM_033136.4:c.24C>A, NM_033136.3:c.24C>T, NM_033136.3:c.24C>A, NM_033137.4:c.24C>T, NM_033137.4:c.24C>A, NM_033137.3:c.24C>T, NM_033137.3:c.24C>A, NM_033137.2:c.24C>T, NM_033137.2:c.24C>A, NM_001144892.3:c.24C>T, NM_001144892.3:c.24C>A, NM_001144892.2:c.24C>T, NM_001144892.2:c.24C>A, NM_001354955.2:c.24C>T, NM_001354955.2:c.24C>A, NM_001354955.1:c.24C>T, NM_001354955.1:c.24C>A, NM_001354954.2:c.24C>T, NM_001354954.2:c.24C>A, NM_001354954.1:c.24C>T, NM_001354954.1:c.24C>A, NM_001354963.2:c.24C>T, NM_001354963.2:c.24C>A, NM_001354963.1:c.24C>T, NM_001354963.1:c.24C>A, NM_001257206.2:c.24C>T, NM_001257206.2:c.24C>A, NM_001257206.1:c.24C>T, NM_001257206.1:c.24C>A, NM_001354951.2:c.24C>T, NM_001354951.2:c.24C>A, NM_001354951.1:c.24C>T, NM_001354951.1:c.24C>A, NM_001354953.2:c.24C>T, NM_001354953.2:c.24C>A, NM_001354953.1:c.24C>T, NM_001354953.1:c.24C>A, NM_001354957.2:c.24C>T, NM_001354957.2:c.24C>A, NM_001354957.1:c.24C>T, NM_001354957.1:c.24C>A, NM_001354959.2:c.24C>T, NM_001354959.2:c.24C>A, NM_001354959.1:c.24C>T, NM_001354959.1:c.24C>A, NM_001354956.2:c.24C>T, NM_001354956.2:c.24C>A, NM_001354956.1:c.24C>T, NM_001354956.1:c.24C>A, NM_001354961.2:c.24C>T, NM_001354961.2:c.24C>A, NM_001354961.1:c.24C>T, NM_001354961.1:c.24C>A, NM_001144934.2:c.24C>T, NM_001144934.2:c.24C>A, NM_001144934.1:c.24C>T, NM_001144934.1:c.24C>A, NM_001354958.2:c.24C>T, NM_001354958.2:c.24C>A, NM_001354958.1:c.24C>T, NM_001354958.1:c.24C>A, NM_001354952.2:c.24C>T, NM_001354952.2:c.24C>A, NM_001354952.1:c.24C>T, NM_001354952.1:c.24C>A, NM_001257207.2:c.24C>T, NM_001257207.2:c.24C>A, NM_001257207.1:c.24C>T, NM_001257207.1:c.24C>A, NM_001257208.2:c.24C>T, NM_001257208.2:c.24C>A, NM_001257208.1:c.24C>T, NM_001257208.1:c.24C>A, NM_001257211.2:c.24C>T, NM_001257211.2:c.24C>A, NM_001257211.1:c.24C>T, NM_001257211.1:c.24C>A, NM_001257210.2:c.24C>T, NM_001257210.2:c.24C>A, NM_001257210.1:c.24C>T, NM_001257210.1:c.24C>A, NM_001144935.2:c.24C>T, NM_001144935.2:c.24C>A, NM_001144935.1:c.24C>T, NM_001144935.1:c.24C>A, NM_001354964.2:c.24C>T, NM_001354964.2:c.24C>A, NM_001354964.1:c.24C>T, NM_001354964.1:c.24C>A, NM_001257212.2:c.24C>T, NM_001257212.2:c.24C>A, NM_001257212.1:c.24C>T, NM_001257212.1:c.24C>A, NM_001354962.2:c.24C>T, NM_001354962.2:c.24C>A, NM_001354962.1:c.24C>T, NM_001354962.1:c.24C>A, NR_026695.1:n.507C>T, NR_026695.1:n.507C>A, NM_001257205.1:c.24C>T, NM_001257205.1:c.24C>A, NR_026696.1:n.507C>T, NR_026696.1:n.507C>A, NM_001257209.1:c.24C>T, NM_001257209.1:c.24C>A

        4.

        rs1459153423 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:142595398 (GRCh38)
          5:141974963 (GRCh37)
          Canonical SPDI:
          NC_000005.10:142595397:C:T
          Gene:
          FGF1 (Varview)
          Functional Consequence:
          synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.142595398C>T, NC_000005.9:g.141974963C>T, NM_000800.5:c.360G>A, NM_000800.4:c.360G>A, NM_033136.4:c.*73G>A, NM_033136.3:c.*73G>A, NM_033137.4:c.*73G>A, NM_033137.3:c.*73G>A, NM_033137.2:c.*73G>A, NM_001144892.3:c.360G>A, NM_001144892.2:c.360G>A, NM_001354955.2:c.360G>A, NM_001354955.1:c.360G>A, NM_001354954.2:c.360G>A, NM_001354954.1:c.360G>A, NM_001354963.2:c.*73G>A, NM_001354963.1:c.*73G>A, NM_001257206.2:c.357G>A, NM_001257206.1:c.357G>A, NM_001354951.2:c.360G>A, NM_001354951.1:c.360G>A, NM_001354953.2:c.360G>A, NM_001354953.1:c.360G>A, NM_001354957.2:c.357G>A, NM_001354957.1:c.357G>A, NM_001354959.2:c.*73G>A, NM_001354959.1:c.*73G>A, NM_001354956.2:c.360G>A, NM_001354956.1:c.360G>A, NM_001354961.2:c.*73G>A, NM_001354961.1:c.*73G>A, NM_001144934.2:c.360G>A, NM_001144934.1:c.360G>A, NM_001354958.2:c.357G>A, NM_001354958.1:c.357G>A, NM_001354952.2:c.360G>A, NM_001354952.1:c.360G>A, NM_001257207.2:c.360G>A, NM_001257207.1:c.360G>A, NM_001257208.2:c.360G>A, NM_001257208.1:c.360G>A, NM_001257211.2:c.357G>A, NM_001257211.1:c.357G>A, NM_001257210.2:c.360G>A, NM_001257210.1:c.360G>A, NM_001144935.2:c.360G>A, NM_001144935.1:c.360G>A, NM_001354964.2:c.*73G>A, NM_001354964.1:c.*73G>A, NM_001257212.2:c.357G>A, NM_001257212.1:c.357G>A, NM_001354962.2:c.*73G>A, NM_001354962.1:c.*73G>A, NR_026695.1:n.843G>A, NM_001257205.1:c.360G>A, NR_026696.1:n.840G>A, NM_001257209.1:c.360G>A

          5.

          rs1450309286 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            5:142614059 (GRCh38)
            5:141993624 (GRCh37)
            Canonical SPDI:
            NC_000005.10:142614058:G:A
            Gene:
            FGF1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000021/3 (GnomAD)
            A=0.000023/6 (TOPMED)
            A=0.000028/7 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.142614059G>A, NC_000005.9:g.141993624G>A, NM_000800.5:c.69C>T, NM_000800.4:c.69C>T, NM_033136.4:c.69C>T, NM_033136.3:c.69C>T, NM_033137.4:c.69C>T, NM_033137.3:c.69C>T, NM_033137.2:c.69C>T, NM_001144892.3:c.69C>T, NM_001144892.2:c.69C>T, NM_001354955.2:c.69C>T, NM_001354955.1:c.69C>T, NM_001354954.2:c.69C>T, NM_001354954.1:c.69C>T, NM_001354963.2:c.69C>T, NM_001354963.1:c.69C>T, NM_001257206.2:c.69C>T, NM_001257206.1:c.69C>T, NM_001354951.2:c.69C>T, NM_001354951.1:c.69C>T, NM_001354953.2:c.69C>T, NM_001354953.1:c.69C>T, NM_001354957.2:c.69C>T, NM_001354957.1:c.69C>T, NM_001354959.2:c.69C>T, NM_001354959.1:c.69C>T, NM_001354956.2:c.69C>T, NM_001354956.1:c.69C>T, NM_001354961.2:c.69C>T, NM_001354961.1:c.69C>T, NM_001144934.2:c.69C>T, NM_001144934.1:c.69C>T, NM_001354958.2:c.69C>T, NM_001354958.1:c.69C>T, NM_001354952.2:c.69C>T, NM_001354952.1:c.69C>T, NM_001257207.2:c.69C>T, NM_001257207.1:c.69C>T, NM_001257208.2:c.69C>T, NM_001257208.1:c.69C>T, NM_001257211.2:c.69C>T, NM_001257211.1:c.69C>T, NM_001257210.2:c.69C>T, NM_001257210.1:c.69C>T, NM_001144935.2:c.69C>T, NM_001144935.1:c.69C>T, NM_001354964.2:c.69C>T, NM_001354964.1:c.69C>T, NM_001257212.2:c.69C>T, NM_001257212.1:c.69C>T, NM_001354962.2:c.69C>T, NM_001354962.1:c.69C>T, NR_026695.1:n.552C>T, NM_001257205.1:c.69C>T, NR_026696.1:n.552C>T, NM_001257209.1:c.69C>T

            6.

            rs1450056118 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              5:142595293 (GRCh38)
              5:141974858 (GRCh37)
              Canonical SPDI:
              NC_000005.10:142595292:A:T
              Gene:
              FGF1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.142595293A>T, NC_000005.9:g.141974858A>T, NM_000800.5:c.465T>A, NM_000800.4:c.465T>A, NM_033136.4:c.*178T>A, NM_033136.3:c.*178T>A, NM_033137.4:c.*178T>A, NM_033137.3:c.*178T>A, NM_033137.2:c.*178T>A, NM_001144892.3:c.465T>A, NM_001144892.2:c.465T>A, NM_001354955.2:c.465T>A, NM_001354955.1:c.465T>A, NM_001354954.2:c.465T>A, NM_001354954.1:c.465T>A, NM_001354963.2:c.*178T>A, NM_001354963.1:c.*178T>A, NM_001257206.2:c.462T>A, NM_001257206.1:c.462T>A, NM_001354951.2:c.465T>A, NM_001354951.1:c.465T>A, NM_001354953.2:c.465T>A, NM_001354953.1:c.465T>A, NM_001354957.2:c.462T>A, NM_001354957.1:c.462T>A, NM_001354959.2:c.*178T>A, NM_001354959.1:c.*178T>A, NM_001354956.2:c.465T>A, NM_001354956.1:c.465T>A, NM_001354961.2:c.*178T>A, NM_001354961.1:c.*178T>A, NM_001144934.2:c.465T>A, NM_001144934.1:c.465T>A, NM_001354958.2:c.462T>A, NM_001354958.1:c.462T>A, NM_001354952.2:c.465T>A, NM_001354952.1:c.465T>A, NM_001257207.2:c.465T>A, NM_001257207.1:c.465T>A, NM_001257208.2:c.465T>A, NM_001257208.1:c.465T>A, NM_001257211.2:c.462T>A, NM_001257211.1:c.462T>A, NM_001257210.2:c.465T>A, NM_001257210.1:c.465T>A, NM_001144935.2:c.465T>A, NM_001144935.1:c.465T>A, NM_001354964.2:c.*178T>A, NM_001354964.1:c.*178T>A, NM_001257212.2:c.462T>A, NM_001257212.1:c.462T>A, NM_001354962.2:c.*178T>A, NM_001354962.1:c.*178T>A, NR_026695.1:n.948T>A, NM_001257205.1:c.465T>A, NR_026696.1:n.945T>A, NM_001257209.1:c.465T>A, NP_000791.1:p.Asp155Glu, NP_001138364.1:p.Asp155Glu, NP_001341884.1:p.Asp155Glu, NP_001341883.1:p.Asp155Glu, NP_001244135.1:p.Asp154Glu, NP_001341880.1:p.Asp155Glu, NP_001341882.1:p.Asp155Glu, NP_001341886.1:p.Asp154Glu, NP_001341885.1:p.Asp155Glu, NP_001138406.1:p.Asp155Glu, NP_001341887.1:p.Asp154Glu, NP_001341881.1:p.Asp155Glu, NP_001244136.1:p.Asp155Glu, NP_001244137.1:p.Asp155Glu, NP_001244140.1:p.Asp154Glu, NP_001244139.1:p.Asp155Glu, NP_001138407.1:p.Asp155Glu, NP_001244141.1:p.Asp154Glu, NP_001244134.1:p.Asp155Glu, NP_001244138.1:p.Asp155Glu

              7.

              rs1434024570 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                5:142614024 (GRCh38)
                5:141993589 (GRCh37)
                Canonical SPDI:
                NC_000005.10:142614023:C:A,NC_000005.10:142614023:C:T
                Gene:
                FGF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000005.10:g.142614024C>A, NC_000005.10:g.142614024C>T, NC_000005.9:g.141993589C>A, NC_000005.9:g.141993589C>T, NM_000800.5:c.104G>T, NM_000800.5:c.104G>A, NM_000800.4:c.104G>T, NM_000800.4:c.104G>A, NM_033136.4:c.104G>T, NM_033136.4:c.104G>A, NM_033136.3:c.104G>T, NM_033136.3:c.104G>A, NM_033137.4:c.104G>T, NM_033137.4:c.104G>A, NM_033137.3:c.104G>T, NM_033137.3:c.104G>A, NM_033137.2:c.104G>T, NM_033137.2:c.104G>A, NM_001144892.3:c.104G>T, NM_001144892.3:c.104G>A, NM_001144892.2:c.104G>T, NM_001144892.2:c.104G>A, NM_001354955.2:c.104G>T, NM_001354955.2:c.104G>A, NM_001354955.1:c.104G>T, NM_001354955.1:c.104G>A, NM_001354954.2:c.104G>T, NM_001354954.2:c.104G>A, NM_001354954.1:c.104G>T, NM_001354954.1:c.104G>A, NM_001354963.2:c.104G>T, NM_001354963.2:c.104G>A, NM_001354963.1:c.104G>T, NM_001354963.1:c.104G>A, NM_001257206.2:c.104G>T, NM_001257206.2:c.104G>A, NM_001257206.1:c.104G>T, NM_001257206.1:c.104G>A, NM_001354951.2:c.104G>T, NM_001354951.2:c.104G>A, NM_001354951.1:c.104G>T, NM_001354951.1:c.104G>A, NM_001354953.2:c.104G>T, NM_001354953.2:c.104G>A, NM_001354953.1:c.104G>T, NM_001354953.1:c.104G>A, NM_001354957.2:c.104G>T, NM_001354957.2:c.104G>A, NM_001354957.1:c.104G>T, NM_001354957.1:c.104G>A, NM_001354959.2:c.104G>T, NM_001354959.2:c.104G>A, NM_001354959.1:c.104G>T, NM_001354959.1:c.104G>A, NM_001354956.2:c.104G>T, NM_001354956.2:c.104G>A, NM_001354956.1:c.104G>T, NM_001354956.1:c.104G>A, NM_001354961.2:c.104G>T, NM_001354961.2:c.104G>A, NM_001354961.1:c.104G>T, NM_001354961.1:c.104G>A, NM_001144934.2:c.104G>T, NM_001144934.2:c.104G>A, NM_001144934.1:c.104G>T, NM_001144934.1:c.104G>A, NM_001354958.2:c.104G>T, NM_001354958.2:c.104G>A, NM_001354958.1:c.104G>T, NM_001354958.1:c.104G>A, NM_001354952.2:c.104G>T, NM_001354952.2:c.104G>A, NM_001354952.1:c.104G>T, NM_001354952.1:c.104G>A, NM_001257207.2:c.104G>T, NM_001257207.2:c.104G>A, NM_001257207.1:c.104G>T, NM_001257207.1:c.104G>A, NM_001257208.2:c.104G>T, NM_001257208.2:c.104G>A, NM_001257208.1:c.104G>T, NM_001257208.1:c.104G>A, NM_001257211.2:c.104G>T, NM_001257211.2:c.104G>A, NM_001257211.1:c.104G>T, NM_001257211.1:c.104G>A, NM_001257210.2:c.104G>T, NM_001257210.2:c.104G>A, NM_001257210.1:c.104G>T, NM_001257210.1:c.104G>A, NM_001144935.2:c.104G>T, NM_001144935.2:c.104G>A, NM_001144935.1:c.104G>T, NM_001144935.1:c.104G>A, NM_001354964.2:c.104G>T, NM_001354964.2:c.104G>A, NM_001354964.1:c.104G>T, NM_001354964.1:c.104G>A, NM_001257212.2:c.104G>T, NM_001257212.2:c.104G>A, NM_001257212.1:c.104G>T, NM_001257212.1:c.104G>A, NM_001354962.2:c.104G>T, NM_001354962.2:c.104G>A, NM_001354962.1:c.104G>T, NM_001354962.1:c.104G>A, NR_026695.1:n.587G>T, NR_026695.1:n.587G>A, NM_001257205.1:c.104G>T, NM_001257205.1:c.104G>A, NR_026696.1:n.587G>T, NR_026696.1:n.587G>A, NM_001257209.1:c.104G>T, NM_001257209.1:c.104G>A, NP_000791.1:p.Gly35Val, NP_000791.1:p.Gly35Asp, NP_149127.1:p.Gly35Val, NP_149127.1:p.Gly35Asp, NP_149128.1:p.Gly35Val, NP_149128.1:p.Gly35Asp, NP_001138364.1:p.Gly35Val, NP_001138364.1:p.Gly35Asp, NP_001341884.1:p.Gly35Val, NP_001341884.1:p.Gly35Asp, NP_001341883.1:p.Gly35Val, NP_001341883.1:p.Gly35Asp, NP_001341892.1:p.Gly35Val, NP_001341892.1:p.Gly35Asp, NP_001244135.1:p.Gly35Val, NP_001244135.1:p.Gly35Asp, NP_001341880.1:p.Gly35Val, NP_001341880.1:p.Gly35Asp, NP_001341882.1:p.Gly35Val, NP_001341882.1:p.Gly35Asp, NP_001341886.1:p.Gly35Val, NP_001341886.1:p.Gly35Asp, NP_001341888.1:p.Gly35Val, NP_001341888.1:p.Gly35Asp, NP_001341885.1:p.Gly35Val, NP_001341885.1:p.Gly35Asp, NP_001341890.1:p.Gly35Val, NP_001341890.1:p.Gly35Asp, NP_001138406.1:p.Gly35Val, NP_001138406.1:p.Gly35Asp, NP_001341887.1:p.Gly35Val, NP_001341887.1:p.Gly35Asp, NP_001341881.1:p.Gly35Val, NP_001341881.1:p.Gly35Asp, NP_001244136.1:p.Gly35Val, NP_001244136.1:p.Gly35Asp, NP_001244137.1:p.Gly35Val, NP_001244137.1:p.Gly35Asp, NP_001244140.1:p.Gly35Val, NP_001244140.1:p.Gly35Asp, NP_001244139.1:p.Gly35Val, NP_001244139.1:p.Gly35Asp, NP_001138407.1:p.Gly35Val, NP_001138407.1:p.Gly35Asp, NP_001341893.1:p.Gly35Val, NP_001341893.1:p.Gly35Asp, NP_001244141.1:p.Gly35Val, NP_001244141.1:p.Gly35Asp, NP_001341891.1:p.Gly35Val, NP_001341891.1:p.Gly35Asp, NP_001244134.1:p.Gly35Val, NP_001244134.1:p.Gly35Asp, NP_001244138.1:p.Gly35Val, NP_001244138.1:p.Gly35Asp

                8.

                rs1431455269 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  5:142595401 (GRCh38)
                  5:141974966 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:142595400:C:T
                  Gene:
                  FGF1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.142595401C>T, NC_000005.9:g.141974966C>T, NM_000800.5:c.357G>A, NM_000800.4:c.357G>A, NM_033136.4:c.*70G>A, NM_033136.3:c.*70G>A, NM_033137.4:c.*70G>A, NM_033137.3:c.*70G>A, NM_033137.2:c.*70G>A, NM_001144892.3:c.357G>A, NM_001144892.2:c.357G>A, NM_001354955.2:c.357G>A, NM_001354955.1:c.357G>A, NM_001354954.2:c.357G>A, NM_001354954.1:c.357G>A, NM_001354963.2:c.*70G>A, NM_001354963.1:c.*70G>A, NM_001257206.2:c.354G>A, NM_001257206.1:c.354G>A, NM_001354951.2:c.357G>A, NM_001354951.1:c.357G>A, NM_001354953.2:c.357G>A, NM_001354953.1:c.357G>A, NM_001354957.2:c.354G>A, NM_001354957.1:c.354G>A, NM_001354959.2:c.*70G>A, NM_001354959.1:c.*70G>A, NM_001354956.2:c.357G>A, NM_001354956.1:c.357G>A, NM_001354961.2:c.*70G>A, NM_001354961.1:c.*70G>A, NM_001144934.2:c.357G>A, NM_001144934.1:c.357G>A, NM_001354958.2:c.354G>A, NM_001354958.1:c.354G>A, NM_001354952.2:c.357G>A, NM_001354952.1:c.357G>A, NM_001257207.2:c.357G>A, NM_001257207.1:c.357G>A, NM_001257208.2:c.357G>A, NM_001257208.1:c.357G>A, NM_001257211.2:c.354G>A, NM_001257211.1:c.354G>A, NM_001257210.2:c.357G>A, NM_001257210.1:c.357G>A, NM_001144935.2:c.357G>A, NM_001144935.1:c.357G>A, NM_001354964.2:c.*70G>A, NM_001354964.1:c.*70G>A, NM_001257212.2:c.354G>A, NM_001257212.1:c.354G>A, NM_001354962.2:c.*70G>A, NM_001354962.1:c.*70G>A, NR_026695.1:n.840G>A, NM_001257205.1:c.357G>A, NR_026696.1:n.837G>A, NM_001257209.1:c.357G>A

                  9.

                  rs1425477789 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:142614085 (GRCh38)
                    5:141993650 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:142614084:T:C
                    Gene:
                    FGF1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000005.10:g.142614085T>C, NC_000005.9:g.141993650T>C, NM_000800.5:c.43A>G, NM_000800.4:c.43A>G, NM_033136.4:c.43A>G, NM_033136.3:c.43A>G, NM_033137.4:c.43A>G, NM_033137.3:c.43A>G, NM_033137.2:c.43A>G, NM_001144892.3:c.43A>G, NM_001144892.2:c.43A>G, NM_001354955.2:c.43A>G, NM_001354955.1:c.43A>G, NM_001354954.2:c.43A>G, NM_001354954.1:c.43A>G, NM_001354963.2:c.43A>G, NM_001354963.1:c.43A>G, NM_001257206.2:c.43A>G, NM_001257206.1:c.43A>G, NM_001354951.2:c.43A>G, NM_001354951.1:c.43A>G, NM_001354953.2:c.43A>G, NM_001354953.1:c.43A>G, NM_001354957.2:c.43A>G, NM_001354957.1:c.43A>G, NM_001354959.2:c.43A>G, NM_001354959.1:c.43A>G, NM_001354956.2:c.43A>G, NM_001354956.1:c.43A>G, NM_001354961.2:c.43A>G, NM_001354961.1:c.43A>G, NM_001144934.2:c.43A>G, NM_001144934.1:c.43A>G, NM_001354958.2:c.43A>G, NM_001354958.1:c.43A>G, NM_001354952.2:c.43A>G, NM_001354952.1:c.43A>G, NM_001257207.2:c.43A>G, NM_001257207.1:c.43A>G, NM_001257208.2:c.43A>G, NM_001257208.1:c.43A>G, NM_001257211.2:c.43A>G, NM_001257211.1:c.43A>G, NM_001257210.2:c.43A>G, NM_001257210.1:c.43A>G, NM_001144935.2:c.43A>G, NM_001144935.1:c.43A>G, NM_001354964.2:c.43A>G, NM_001354964.1:c.43A>G, NM_001257212.2:c.43A>G, NM_001257212.1:c.43A>G, NM_001354962.2:c.43A>G, NM_001354962.1:c.43A>G, NR_026695.1:n.526A>G, NM_001257205.1:c.43A>G, NR_026696.1:n.526A>G, NM_001257209.1:c.43A>G, NP_000791.1:p.Lys15Glu, NP_149127.1:p.Lys15Glu, NP_149128.1:p.Lys15Glu, NP_001138364.1:p.Lys15Glu, NP_001341884.1:p.Lys15Glu, NP_001341883.1:p.Lys15Glu, NP_001341892.1:p.Lys15Glu, NP_001244135.1:p.Lys15Glu, NP_001341880.1:p.Lys15Glu, NP_001341882.1:p.Lys15Glu, NP_001341886.1:p.Lys15Glu, NP_001341888.1:p.Lys15Glu, NP_001341885.1:p.Lys15Glu, NP_001341890.1:p.Lys15Glu, NP_001138406.1:p.Lys15Glu, NP_001341887.1:p.Lys15Glu, NP_001341881.1:p.Lys15Glu, NP_001244136.1:p.Lys15Glu, NP_001244137.1:p.Lys15Glu, NP_001244140.1:p.Lys15Glu, NP_001244139.1:p.Lys15Glu, NP_001138407.1:p.Lys15Glu, NP_001341893.1:p.Lys15Glu, NP_001244141.1:p.Lys15Glu, NP_001341891.1:p.Lys15Glu, NP_001244134.1:p.Lys15Glu, NP_001244138.1:p.Lys15Glu

                    10.

                    rs1419776970 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TCT>- [Show Flanks]
                      Chromosome:
                      5:142595400 (GRCh38)
                      5:141974965 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:142595395:TTCTTCT:TTCT
                      Gene:
                      FGF1 (Varview)
                      Functional Consequence:
                      inframe_deletion,coding_sequence_variant,3_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.142595397TCT[1], NC_000005.9:g.141974962TCT[1], NM_000800.5:c.357GAA[1], NM_000800.4:c.357GAA[1], NM_033136.4:c.*70GAA[1], NM_033136.3:c.*70GAA[1], NM_033137.4:c.*70GAA[1], NM_033137.3:c.*70GAA[1], NM_033137.2:c.*70GAA[1], NM_001144892.3:c.357GAA[1], NM_001144892.2:c.357GAA[1], NM_001354955.2:c.357GAA[1], NM_001354955.1:c.357GAA[1], NM_001354954.2:c.357GAA[1], NM_001354954.1:c.357GAA[1], NM_001354963.2:c.*70GAA[1], NM_001354963.1:c.*70GAA[1], NM_001257206.2:c.354GAA[1], NM_001257206.1:c.354GAA[1], NM_001354951.2:c.357GAA[1], NM_001354951.1:c.357GAA[1], NM_001354953.2:c.357GAA[1], NM_001354953.1:c.357GAA[1], NM_001354957.2:c.354GAA[1], NM_001354957.1:c.354GAA[1], NM_001354959.2:c.*70GAA[1], NM_001354959.1:c.*70GAA[1], NM_001354956.2:c.357GAA[1], NM_001354956.1:c.357GAA[1], NM_001354961.2:c.*70GAA[1], NM_001354961.1:c.*70GAA[1], NM_001144934.2:c.357GAA[1], NM_001144934.1:c.357GAA[1], NM_001354958.2:c.354GAA[1], NM_001354958.1:c.354GAA[1], NM_001354952.2:c.357GAA[1], NM_001354952.1:c.357GAA[1], NM_001257207.2:c.357GAA[1], NM_001257207.1:c.357GAA[1], NM_001257208.2:c.357GAA[1], NM_001257208.1:c.357GAA[1], NM_001257211.2:c.354GAA[1], NM_001257211.1:c.354GAA[1], NM_001257210.2:c.357GAA[1], NM_001257210.1:c.357GAA[1], NM_001144935.2:c.357GAA[1], NM_001144935.1:c.357GAA[1], NM_001354964.2:c.*70GAA[1], NM_001354964.1:c.*70GAA[1], NM_001257212.2:c.354GAA[1], NM_001257212.1:c.354GAA[1], NM_001354962.2:c.*70GAA[1], NM_001354962.1:c.*70GAA[1], NR_026695.1:n.840GAA[1], NM_001257205.1:c.357GAA[1], NR_026696.1:n.837GAA[1], NM_001257209.1:c.357GAA[1], NP_000791.1:p.Lys120del, NP_001138364.1:p.Lys120del, NP_001341884.1:p.Lys120del, NP_001341883.1:p.Lys120del, NP_001244135.1:p.Lys119del, NP_001341880.1:p.Lys120del, NP_001341882.1:p.Lys120del, NP_001341886.1:p.Lys119del, NP_001341885.1:p.Lys120del, NP_001138406.1:p.Lys120del, NP_001341887.1:p.Lys119del, NP_001341881.1:p.Lys120del, NP_001244136.1:p.Lys120del, NP_001244137.1:p.Lys120del, NP_001244140.1:p.Lys119del, NP_001244139.1:p.Lys120del, NP_001138407.1:p.Lys120del, NP_001244141.1:p.Lys119del, NP_001244134.1:p.Lys120del, NP_001244138.1:p.Lys120del

                      11.

                      rs1415742259 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        5:142600770 (GRCh38)
                        5:141980335 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:142600769:C:A
                        Gene:
                        FGF1 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000005.10:g.142600770C>A, NC_000005.9:g.141980335C>A, NM_000800.5:c.205G>T, NM_000800.4:c.205G>T, NM_001144892.3:c.205G>T, NM_001144892.2:c.205G>T, NM_001354955.2:c.205G>T, NM_001354955.1:c.205G>T, NM_001354954.2:c.205G>T, NM_001354954.1:c.205G>T, NM_001257206.2:c.205G>T, NM_001257206.1:c.205G>T, NM_001354951.2:c.205G>T, NM_001354951.1:c.205G>T, NM_001354953.2:c.205G>T, NM_001354953.1:c.205G>T, NM_001354957.2:c.205G>T, NM_001354957.1:c.205G>T, NM_001354956.2:c.205G>T, NM_001354956.1:c.205G>T, NM_001144934.2:c.205G>T, NM_001144934.1:c.205G>T, NM_001354958.2:c.205G>T, NM_001354958.1:c.205G>T, NM_001354952.2:c.205G>T, NM_001354952.1:c.205G>T, NM_001257207.2:c.205G>T, NM_001257207.1:c.205G>T, NM_001257208.2:c.205G>T, NM_001257208.1:c.205G>T, NM_001257211.2:c.205G>T, NM_001257211.1:c.205G>T, NM_001257210.2:c.205G>T, NM_001257210.1:c.205G>T, NM_001144935.2:c.205G>T, NM_001144935.1:c.205G>T, NM_001257212.2:c.205G>T, NM_001257212.1:c.205G>T, NR_026695.1:n.688G>T, NM_001257205.1:c.205G>T, NR_026696.1:n.688G>T, NM_001257209.1:c.205G>T, NP_000791.1:p.Val69Leu, NP_001138364.1:p.Val69Leu, NP_001341884.1:p.Val69Leu, NP_001341883.1:p.Val69Leu, NP_001244135.1:p.Val69Leu, NP_001341880.1:p.Val69Leu, NP_001341882.1:p.Val69Leu, NP_001341886.1:p.Val69Leu, NP_001341885.1:p.Val69Leu, NP_001138406.1:p.Val69Leu, NP_001341887.1:p.Val69Leu, NP_001341881.1:p.Val69Leu, NP_001244136.1:p.Val69Leu, NP_001244137.1:p.Val69Leu, NP_001244140.1:p.Val69Leu, NP_001244139.1:p.Val69Leu, NP_001138407.1:p.Val69Leu, NP_001244141.1:p.Val69Leu, NP_001244134.1:p.Val69Leu, NP_001244138.1:p.Val69Leu

                        12.

                        rs1415471312 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->GGTCG [Show Flanks]
                          Chromosome:
                          5:142614091 (GRCh38)
                          5:141993657 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:142614091::GGTCG
                          Gene:
                          FGF1 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant
                          HGVS:
                          NC_000005.10:g.142614091_142614092insGGTCG, NC_000005.9:g.141993656_141993657insGGTCG, NM_000800.5:c.36_37insCGACC, NM_000800.4:c.36_37insCGACC, NM_033136.4:c.36_37insCGACC, NM_033136.3:c.36_37insCGACC, NM_033137.4:c.36_37insCGACC, NM_033137.3:c.36_37insCGACC, NM_033137.2:c.36_37insCGACC, NM_001144892.3:c.36_37insCGACC, NM_001144892.2:c.36_37insCGACC, NM_001354955.2:c.36_37insCGACC, NM_001354955.1:c.36_37insCGACC, NM_001354954.2:c.36_37insCGACC, NM_001354954.1:c.36_37insCGACC, NM_001354963.2:c.36_37insCGACC, NM_001354963.1:c.36_37insCGACC, NM_001257206.2:c.36_37insCGACC, NM_001257206.1:c.36_37insCGACC, NM_001354951.2:c.36_37insCGACC, NM_001354951.1:c.36_37insCGACC, NM_001354953.2:c.36_37insCGACC, NM_001354953.1:c.36_37insCGACC, NM_001354957.2:c.36_37insCGACC, NM_001354957.1:c.36_37insCGACC, NM_001354959.2:c.36_37insCGACC, NM_001354959.1:c.36_37insCGACC, NM_001354956.2:c.36_37insCGACC, NM_001354956.1:c.36_37insCGACC, NM_001354961.2:c.36_37insCGACC, NM_001354961.1:c.36_37insCGACC, NM_001144934.2:c.36_37insCGACC, NM_001144934.1:c.36_37insCGACC, NM_001354958.2:c.36_37insCGACC, NM_001354958.1:c.36_37insCGACC, NM_001354952.2:c.36_37insCGACC, NM_001354952.1:c.36_37insCGACC, NM_001257207.2:c.36_37insCGACC, NM_001257207.1:c.36_37insCGACC, NM_001257208.2:c.36_37insCGACC, NM_001257208.1:c.36_37insCGACC, NM_001257211.2:c.36_37insCGACC, NM_001257211.1:c.36_37insCGACC, NM_001257210.2:c.36_37insCGACC, NM_001257210.1:c.36_37insCGACC, NM_001144935.2:c.36_37insCGACC, NM_001144935.1:c.36_37insCGACC, NM_001354964.2:c.36_37insCGACC, NM_001354964.1:c.36_37insCGACC, NM_001257212.2:c.36_37insCGACC, NM_001257212.1:c.36_37insCGACC, NM_001354962.2:c.36_37insCGACC, NM_001354962.1:c.36_37insCGACC, NR_026695.1:n.519_520insCGACC, NM_001257205.1:c.36_37insCGACC, NR_026696.1:n.519_520insCGACC, NM_001257209.1:c.36_37insCGACC, NP_000791.1:p.Thr13fs, NP_149127.1:p.Thr13fs, NP_149128.1:p.Thr13fs, NP_001138364.1:p.Thr13fs, NP_001341884.1:p.Thr13fs, NP_001341883.1:p.Thr13fs, NP_001341892.1:p.Thr13fs, NP_001244135.1:p.Thr13fs, NP_001341880.1:p.Thr13fs, NP_001341882.1:p.Thr13fs, NP_001341886.1:p.Thr13fs, NP_001341888.1:p.Thr13fs, NP_001341885.1:p.Thr13fs, NP_001341890.1:p.Thr13fs, NP_001138406.1:p.Thr13fs, NP_001341887.1:p.Thr13fs, NP_001341881.1:p.Thr13fs, NP_001244136.1:p.Thr13fs, NP_001244137.1:p.Thr13fs, NP_001244140.1:p.Thr13fs, NP_001244139.1:p.Thr13fs, NP_001138407.1:p.Thr13fs, NP_001341893.1:p.Thr13fs, NP_001244141.1:p.Thr13fs, NP_001341891.1:p.Thr13fs, NP_001244134.1:p.Thr13fs, NP_001244138.1:p.Thr13fs

                          13.

                          rs1415333814 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:142595405 (GRCh38)
                            5:141974970 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:142595404:G:A
                            Gene:
                            FGF1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.142595405G>A, NC_000005.9:g.141974970G>A, NM_000800.5:c.353C>T, NM_000800.4:c.353C>T, NM_033136.4:c.*66C>T, NM_033136.3:c.*66C>T, NM_033137.4:c.*66C>T, NM_033137.3:c.*66C>T, NM_033137.2:c.*66C>T, NM_001144892.3:c.353C>T, NM_001144892.2:c.353C>T, NM_001354955.2:c.353C>T, NM_001354955.1:c.353C>T, NM_001354954.2:c.353C>T, NM_001354954.1:c.353C>T, NM_001354963.2:c.*66C>T, NM_001354963.1:c.*66C>T, NM_001257206.2:c.350C>T, NM_001257206.1:c.350C>T, NM_001354951.2:c.353C>T, NM_001354951.1:c.353C>T, NM_001354953.2:c.353C>T, NM_001354953.1:c.353C>T, NM_001354957.2:c.350C>T, NM_001354957.1:c.350C>T, NM_001354959.2:c.*66C>T, NM_001354959.1:c.*66C>T, NM_001354956.2:c.353C>T, NM_001354956.1:c.353C>T, NM_001354961.2:c.*66C>T, NM_001354961.1:c.*66C>T, NM_001144934.2:c.353C>T, NM_001144934.1:c.353C>T, NM_001354958.2:c.350C>T, NM_001354958.1:c.350C>T, NM_001354952.2:c.353C>T, NM_001354952.1:c.353C>T, NM_001257207.2:c.353C>T, NM_001257207.1:c.353C>T, NM_001257208.2:c.353C>T, NM_001257208.1:c.353C>T, NM_001257211.2:c.350C>T, NM_001257211.1:c.350C>T, NM_001257210.2:c.353C>T, NM_001257210.1:c.353C>T, NM_001144935.2:c.353C>T, NM_001144935.1:c.353C>T, NM_001354964.2:c.*66C>T, NM_001354964.1:c.*66C>T, NM_001257212.2:c.350C>T, NM_001257212.1:c.350C>T, NM_001354962.2:c.*66C>T, NM_001354962.1:c.*66C>T, NR_026695.1:n.836C>T, NM_001257205.1:c.353C>T, NR_026696.1:n.833C>T, NM_001257209.1:c.353C>T, NP_000791.1:p.Ala118Val, NP_001138364.1:p.Ala118Val, NP_001341884.1:p.Ala118Val, NP_001341883.1:p.Ala118Val, NP_001244135.1:p.Ala117Val, NP_001341880.1:p.Ala118Val, NP_001341882.1:p.Ala118Val, NP_001341886.1:p.Ala117Val, NP_001341885.1:p.Ala118Val, NP_001138406.1:p.Ala118Val, NP_001341887.1:p.Ala117Val, NP_001341881.1:p.Ala118Val, NP_001244136.1:p.Ala118Val, NP_001244137.1:p.Ala118Val, NP_001244140.1:p.Ala117Val, NP_001244139.1:p.Ala118Val, NP_001138407.1:p.Ala118Val, NP_001244141.1:p.Ala117Val, NP_001244134.1:p.Ala118Val, NP_001244138.1:p.Ala118Val

                            14.

                            rs1403446036 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:142614093 (GRCh38)
                              5:141993658 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:142614092:A:G
                              Gene:
                              FGF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000111/1 (ALFA)
                              G=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.142614093A>G, NC_000005.9:g.141993658A>G, NM_000800.5:c.35T>C, NM_000800.4:c.35T>C, NM_033136.4:c.35T>C, NM_033136.3:c.35T>C, NM_033137.4:c.35T>C, NM_033137.3:c.35T>C, NM_033137.2:c.35T>C, NM_001144892.3:c.35T>C, NM_001144892.2:c.35T>C, NM_001354955.2:c.35T>C, NM_001354955.1:c.35T>C, NM_001354954.2:c.35T>C, NM_001354954.1:c.35T>C, NM_001354963.2:c.35T>C, NM_001354963.1:c.35T>C, NM_001257206.2:c.35T>C, NM_001257206.1:c.35T>C, NM_001354951.2:c.35T>C, NM_001354951.1:c.35T>C, NM_001354953.2:c.35T>C, NM_001354953.1:c.35T>C, NM_001354957.2:c.35T>C, NM_001354957.1:c.35T>C, NM_001354959.2:c.35T>C, NM_001354959.1:c.35T>C, NM_001354956.2:c.35T>C, NM_001354956.1:c.35T>C, NM_001354961.2:c.35T>C, NM_001354961.1:c.35T>C, NM_001144934.2:c.35T>C, NM_001144934.1:c.35T>C, NM_001354958.2:c.35T>C, NM_001354958.1:c.35T>C, NM_001354952.2:c.35T>C, NM_001354952.1:c.35T>C, NM_001257207.2:c.35T>C, NM_001257207.1:c.35T>C, NM_001257208.2:c.35T>C, NM_001257208.1:c.35T>C, NM_001257211.2:c.35T>C, NM_001257211.1:c.35T>C, NM_001257210.2:c.35T>C, NM_001257210.1:c.35T>C, NM_001144935.2:c.35T>C, NM_001144935.1:c.35T>C, NM_001354964.2:c.35T>C, NM_001354964.1:c.35T>C, NM_001257212.2:c.35T>C, NM_001257212.1:c.35T>C, NM_001354962.2:c.35T>C, NM_001354962.1:c.35T>C, NR_026695.1:n.518T>C, NM_001257205.1:c.35T>C, NR_026696.1:n.518T>C, NM_001257209.1:c.35T>C, NP_000791.1:p.Leu12Pro, NP_149127.1:p.Leu12Pro, NP_149128.1:p.Leu12Pro, NP_001138364.1:p.Leu12Pro, NP_001341884.1:p.Leu12Pro, NP_001341883.1:p.Leu12Pro, NP_001341892.1:p.Leu12Pro, NP_001244135.1:p.Leu12Pro, NP_001341880.1:p.Leu12Pro, NP_001341882.1:p.Leu12Pro, NP_001341886.1:p.Leu12Pro, NP_001341888.1:p.Leu12Pro, NP_001341885.1:p.Leu12Pro, NP_001341890.1:p.Leu12Pro, NP_001138406.1:p.Leu12Pro, NP_001341887.1:p.Leu12Pro, NP_001341881.1:p.Leu12Pro, NP_001244136.1:p.Leu12Pro, NP_001244137.1:p.Leu12Pro, NP_001244140.1:p.Leu12Pro, NP_001244139.1:p.Leu12Pro, NP_001138407.1:p.Leu12Pro, NP_001341893.1:p.Leu12Pro, NP_001244141.1:p.Leu12Pro, NP_001341891.1:p.Leu12Pro, NP_001244134.1:p.Leu12Pro, NP_001244138.1:p.Leu12Pro

                              15.

                              rs1397972024 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:142600799 (GRCh38)
                                5:141980364 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:142600798:A:G
                                Gene:
                                FGF1 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000005.10:g.142600799A>G, NC_000005.9:g.141980364A>G, NM_000800.5:c.176T>C, NM_000800.4:c.176T>C, NM_001144892.3:c.176T>C, NM_001144892.2:c.176T>C, NM_001354955.2:c.176T>C, NM_001354955.1:c.176T>C, NM_001354954.2:c.176T>C, NM_001354954.1:c.176T>C, NM_001257206.2:c.176T>C, NM_001257206.1:c.176T>C, NM_001354951.2:c.176T>C, NM_001354951.1:c.176T>C, NM_001354953.2:c.176T>C, NM_001354953.1:c.176T>C, NM_001354957.2:c.176T>C, NM_001354957.1:c.176T>C, NM_001354956.2:c.176T>C, NM_001354956.1:c.176T>C, NM_001144934.2:c.176T>C, NM_001144934.1:c.176T>C, NM_001354958.2:c.176T>C, NM_001354958.1:c.176T>C, NM_001354952.2:c.176T>C, NM_001354952.1:c.176T>C, NM_001257207.2:c.176T>C, NM_001257207.1:c.176T>C, NM_001257208.2:c.176T>C, NM_001257208.1:c.176T>C, NM_001257211.2:c.176T>C, NM_001257211.1:c.176T>C, NM_001257210.2:c.176T>C, NM_001257210.1:c.176T>C, NM_001144935.2:c.176T>C, NM_001144935.1:c.176T>C, NM_001257212.2:c.176T>C, NM_001257212.1:c.176T>C, NR_026695.1:n.659T>C, NM_001257205.1:c.176T>C, NR_026696.1:n.659T>C, NM_001257209.1:c.176T>C, NP_000791.1:p.Leu59Pro, NP_001138364.1:p.Leu59Pro, NP_001341884.1:p.Leu59Pro, NP_001341883.1:p.Leu59Pro, NP_001244135.1:p.Leu59Pro, NP_001341880.1:p.Leu59Pro, NP_001341882.1:p.Leu59Pro, NP_001341886.1:p.Leu59Pro, NP_001341885.1:p.Leu59Pro, NP_001138406.1:p.Leu59Pro, NP_001341887.1:p.Leu59Pro, NP_001341881.1:p.Leu59Pro, NP_001244136.1:p.Leu59Pro, NP_001244137.1:p.Leu59Pro, NP_001244140.1:p.Leu59Pro, NP_001244139.1:p.Leu59Pro, NP_001138407.1:p.Leu59Pro, NP_001244141.1:p.Leu59Pro, NP_001244134.1:p.Leu59Pro, NP_001244138.1:p.Leu59Pro

                                16.

                                rs1389319272 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  5:142595466 (GRCh38)
                                  5:141975031 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:142595465:A:
                                  Gene:
                                  FGF1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000005.10:g.142595466del, NC_000005.9:g.141975031del, NM_000800.5:c.292del, NM_000800.4:c.292del, NM_033136.4:c.*5del, NM_033136.3:c.*5del, NM_033137.4:c.*5del, NM_033137.3:c.*5del, NM_033137.2:c.*5del, NM_001144892.3:c.292del, NM_001144892.2:c.292del, NM_001354955.2:c.292del, NM_001354955.1:c.292del, NM_001354954.2:c.292del, NM_001354954.1:c.292del, NM_001354963.2:c.*5del, NM_001354963.1:c.*5del, NM_001257206.2:c.289del, NM_001257206.1:c.289del, NM_001354951.2:c.292del, NM_001354951.1:c.292del, NM_001354953.2:c.292del, NM_001354953.1:c.292del, NM_001354957.2:c.289del, NM_001354957.1:c.289del, NM_001354959.2:c.*5del, NM_001354959.1:c.*5del, NM_001354956.2:c.292del, NM_001354956.1:c.292del, NM_001354961.2:c.*5del, NM_001354961.1:c.*5del, NM_001144934.2:c.292del, NM_001144934.1:c.292del, NM_001354958.2:c.289del, NM_001354958.1:c.289del, NM_001354952.2:c.292del, NM_001354952.1:c.292del, NM_001257207.2:c.292del, NM_001257207.1:c.292del, NM_001257208.2:c.292del, NM_001257208.1:c.292del, NM_001257211.2:c.289del, NM_001257211.1:c.289del, NM_001257210.2:c.292del, NM_001257210.1:c.292del, NM_001144935.2:c.292del, NM_001144935.1:c.292del, NM_001354964.2:c.*5del, NM_001354964.1:c.*5del, NM_001257212.2:c.289del, NM_001257212.1:c.289del, NM_001354962.2:c.*5del, NM_001354962.1:c.*5del, NR_026695.1:n.775del, NM_001257205.1:c.292del, NR_026696.1:n.772del, NM_001257209.1:c.292del, NP_000791.1:p.Cys98fs, NP_001138364.1:p.Cys98fs, NP_001341884.1:p.Cys98fs, NP_001341883.1:p.Cys98fs, NP_001244135.1:p.Cys97fs, NP_001341880.1:p.Cys98fs, NP_001341882.1:p.Cys98fs, NP_001341886.1:p.Cys97fs, NP_001341885.1:p.Cys98fs, NP_001138406.1:p.Cys98fs, NP_001341887.1:p.Cys97fs, NP_001341881.1:p.Cys98fs, NP_001244136.1:p.Cys98fs, NP_001244137.1:p.Cys98fs, NP_001244140.1:p.Cys97fs, NP_001244139.1:p.Cys98fs, NP_001138407.1:p.Cys98fs, NP_001244141.1:p.Cys97fs, NP_001244134.1:p.Cys98fs, NP_001244138.1:p.Cys98fs

                                  17.

                                  rs1369712915 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:142595383 (GRCh38)
                                    5:141974948 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:142595382:G:A
                                    Gene:
                                    FGF1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.0002/1 (1000Genomes)
                                    HGVS:
                                    NC_000005.10:g.142595383G>A, NC_000005.9:g.141974948G>A, NM_000800.5:c.375C>T, NM_000800.4:c.375C>T, NM_033136.4:c.*88C>T, NM_033136.3:c.*88C>T, NM_033137.4:c.*88C>T, NM_033137.3:c.*88C>T, NM_033137.2:c.*88C>T, NM_001144892.3:c.375C>T, NM_001144892.2:c.375C>T, NM_001354955.2:c.375C>T, NM_001354955.1:c.375C>T, NM_001354954.2:c.375C>T, NM_001354954.1:c.375C>T, NM_001354963.2:c.*88C>T, NM_001354963.1:c.*88C>T, NM_001257206.2:c.372C>T, NM_001257206.1:c.372C>T, NM_001354951.2:c.375C>T, NM_001354951.1:c.375C>T, NM_001354953.2:c.375C>T, NM_001354953.1:c.375C>T, NM_001354957.2:c.372C>T, NM_001354957.1:c.372C>T, NM_001354959.2:c.*88C>T, NM_001354959.1:c.*88C>T, NM_001354956.2:c.375C>T, NM_001354956.1:c.375C>T, NM_001354961.2:c.*88C>T, NM_001354961.1:c.*88C>T, NM_001144934.2:c.375C>T, NM_001144934.1:c.375C>T, NM_001354958.2:c.372C>T, NM_001354958.1:c.372C>T, NM_001354952.2:c.375C>T, NM_001354952.1:c.375C>T, NM_001257207.2:c.375C>T, NM_001257207.1:c.375C>T, NM_001257208.2:c.375C>T, NM_001257208.1:c.375C>T, NM_001257211.2:c.372C>T, NM_001257211.1:c.372C>T, NM_001257210.2:c.375C>T, NM_001257210.1:c.375C>T, NM_001144935.2:c.375C>T, NM_001144935.1:c.375C>T, NM_001354964.2:c.*88C>T, NM_001354964.1:c.*88C>T, NM_001257212.2:c.372C>T, NM_001257212.1:c.372C>T, NM_001354962.2:c.*88C>T, NM_001354962.1:c.*88C>T, NR_026695.1:n.858C>T, NM_001257205.1:c.375C>T, NR_026696.1:n.855C>T, NM_001257209.1:c.375C>T

                                    18.

                                    rs1369677679 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      5:142595404 (GRCh38)
                                      5:141974969 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:142595403:T:A
                                      Gene:
                                      FGF1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000047/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.142595404T>A, NC_000005.9:g.141974969T>A, NM_000800.5:c.354A>T, NM_000800.4:c.354A>T, NM_033136.4:c.*67A>T, NM_033136.3:c.*67A>T, NM_033137.4:c.*67A>T, NM_033137.3:c.*67A>T, NM_033137.2:c.*67A>T, NM_001144892.3:c.354A>T, NM_001144892.2:c.354A>T, NM_001354955.2:c.354A>T, NM_001354955.1:c.354A>T, NM_001354954.2:c.354A>T, NM_001354954.1:c.354A>T, NM_001354963.2:c.*67A>T, NM_001354963.1:c.*67A>T, NM_001257206.2:c.351A>T, NM_001257206.1:c.351A>T, NM_001354951.2:c.354A>T, NM_001354951.1:c.354A>T, NM_001354953.2:c.354A>T, NM_001354953.1:c.354A>T, NM_001354957.2:c.351A>T, NM_001354957.1:c.351A>T, NM_001354959.2:c.*67A>T, NM_001354959.1:c.*67A>T, NM_001354956.2:c.354A>T, NM_001354956.1:c.354A>T, NM_001354961.2:c.*67A>T, NM_001354961.1:c.*67A>T, NM_001144934.2:c.354A>T, NM_001144934.1:c.354A>T, NM_001354958.2:c.351A>T, NM_001354958.1:c.351A>T, NM_001354952.2:c.354A>T, NM_001354952.1:c.354A>T, NM_001257207.2:c.354A>T, NM_001257207.1:c.354A>T, NM_001257208.2:c.354A>T, NM_001257208.1:c.354A>T, NM_001257211.2:c.351A>T, NM_001257211.1:c.351A>T, NM_001257210.2:c.354A>T, NM_001257210.1:c.354A>T, NM_001144935.2:c.354A>T, NM_001144935.1:c.354A>T, NM_001354964.2:c.*67A>T, NM_001354964.1:c.*67A>T, NM_001257212.2:c.351A>T, NM_001257212.1:c.351A>T, NM_001354962.2:c.*67A>T, NM_001354962.1:c.*67A>T, NR_026695.1:n.837A>T, NM_001257205.1:c.354A>T, NR_026696.1:n.834A>T, NM_001257209.1:c.354A>T

                                      19.

                                      rs1368636111 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        5:142614045 (GRCh38)
                                        5:141993610 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:142614044:A:T
                                        Gene:
                                        FGF1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000019/5 (TOPMED)
                                        T=0.000036/5 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.142614045A>T, NC_000005.9:g.141993610A>T, NM_000800.5:c.83T>A, NM_000800.4:c.83T>A, NM_033136.4:c.83T>A, NM_033136.3:c.83T>A, NM_033137.4:c.83T>A, NM_033137.3:c.83T>A, NM_033137.2:c.83T>A, NM_001144892.3:c.83T>A, NM_001144892.2:c.83T>A, NM_001354955.2:c.83T>A, NM_001354955.1:c.83T>A, NM_001354954.2:c.83T>A, NM_001354954.1:c.83T>A, NM_001354963.2:c.83T>A, NM_001354963.1:c.83T>A, NM_001257206.2:c.83T>A, NM_001257206.1:c.83T>A, NM_001354951.2:c.83T>A, NM_001354951.1:c.83T>A, NM_001354953.2:c.83T>A, NM_001354953.1:c.83T>A, NM_001354957.2:c.83T>A, NM_001354957.1:c.83T>A, NM_001354959.2:c.83T>A, NM_001354959.1:c.83T>A, NM_001354956.2:c.83T>A, NM_001354956.1:c.83T>A, NM_001354961.2:c.83T>A, NM_001354961.1:c.83T>A, NM_001144934.2:c.83T>A, NM_001144934.1:c.83T>A, NM_001354958.2:c.83T>A, NM_001354958.1:c.83T>A, NM_001354952.2:c.83T>A, NM_001354952.1:c.83T>A, NM_001257207.2:c.83T>A, NM_001257207.1:c.83T>A, NM_001257208.2:c.83T>A, NM_001257208.1:c.83T>A, NM_001257211.2:c.83T>A, NM_001257211.1:c.83T>A, NM_001257210.2:c.83T>A, NM_001257210.1:c.83T>A, NM_001144935.2:c.83T>A, NM_001144935.1:c.83T>A, NM_001354964.2:c.83T>A, NM_001354964.1:c.83T>A, NM_001257212.2:c.83T>A, NM_001257212.1:c.83T>A, NM_001354962.2:c.83T>A, NM_001354962.1:c.83T>A, NR_026695.1:n.566T>A, NM_001257205.1:c.83T>A, NR_026696.1:n.566T>A, NM_001257209.1:c.83T>A, NP_000791.1:p.Leu28His, NP_149127.1:p.Leu28His, NP_149128.1:p.Leu28His, NP_001138364.1:p.Leu28His, NP_001341884.1:p.Leu28His, NP_001341883.1:p.Leu28His, NP_001341892.1:p.Leu28His, NP_001244135.1:p.Leu28His, NP_001341880.1:p.Leu28His, NP_001341882.1:p.Leu28His, NP_001341886.1:p.Leu28His, NP_001341888.1:p.Leu28His, NP_001341885.1:p.Leu28His, NP_001341890.1:p.Leu28His, NP_001138406.1:p.Leu28His, NP_001341887.1:p.Leu28His, NP_001341881.1:p.Leu28His, NP_001244136.1:p.Leu28His, NP_001244137.1:p.Leu28His, NP_001244140.1:p.Leu28His, NP_001244139.1:p.Leu28His, NP_001138407.1:p.Leu28His, NP_001341893.1:p.Leu28His, NP_001244141.1:p.Leu28His, NP_001341891.1:p.Leu28His, NP_001244134.1:p.Leu28His, NP_001244138.1:p.Leu28His

                                        20.

                                        rs1357397469 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          5:142595407 (GRCh38)
                                          5:141974972 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:142595406:A:T
                                          Gene:
                                          FGF1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000005.10:g.142595407A>T, NC_000005.9:g.141974972A>T, NM_000800.5:c.351T>A, NM_000800.4:c.351T>A, NM_033136.4:c.*64T>A, NM_033136.3:c.*64T>A, NM_033137.4:c.*64T>A, NM_033137.3:c.*64T>A, NM_033137.2:c.*64T>A, NM_001144892.3:c.351T>A, NM_001144892.2:c.351T>A, NM_001354955.2:c.351T>A, NM_001354955.1:c.351T>A, NM_001354954.2:c.351T>A, NM_001354954.1:c.351T>A, NM_001354963.2:c.*64T>A, NM_001354963.1:c.*64T>A, NM_001257206.2:c.348T>A, NM_001257206.1:c.348T>A, NM_001354951.2:c.351T>A, NM_001354951.1:c.351T>A, NM_001354953.2:c.351T>A, NM_001354953.1:c.351T>A, NM_001354957.2:c.348T>A, NM_001354957.1:c.348T>A, NM_001354959.2:c.*64T>A, NM_001354959.1:c.*64T>A, NM_001354956.2:c.351T>A, NM_001354956.1:c.351T>A, NM_001354961.2:c.*64T>A, NM_001354961.1:c.*64T>A, NM_001144934.2:c.351T>A, NM_001144934.1:c.351T>A, NM_001354958.2:c.348T>A, NM_001354958.1:c.348T>A, NM_001354952.2:c.351T>A, NM_001354952.1:c.351T>A, NM_001257207.2:c.351T>A, NM_001257207.1:c.351T>A, NM_001257208.2:c.351T>A, NM_001257208.1:c.351T>A, NM_001257211.2:c.348T>A, NM_001257211.1:c.348T>A, NM_001257210.2:c.351T>A, NM_001257210.1:c.351T>A, NM_001144935.2:c.351T>A, NM_001144935.1:c.351T>A, NM_001354964.2:c.*64T>A, NM_001354964.1:c.*64T>A, NM_001257212.2:c.348T>A, NM_001257212.1:c.348T>A, NM_001354962.2:c.*64T>A, NM_001354962.1:c.*64T>A, NR_026695.1:n.834T>A, NM_001257205.1:c.351T>A, NR_026696.1:n.831T>A, NM_001257209.1:c.351T>A, NP_000791.1:p.His117Gln, NP_001138364.1:p.His117Gln, NP_001341884.1:p.His117Gln, NP_001341883.1:p.His117Gln, NP_001244135.1:p.His116Gln, NP_001341880.1:p.His117Gln, NP_001341882.1:p.His117Gln, NP_001341886.1:p.His116Gln, NP_001341885.1:p.His117Gln, NP_001138406.1:p.His117Gln, NP_001341887.1:p.His116Gln, NP_001341881.1:p.His117Gln, NP_001244136.1:p.His117Gln, NP_001244137.1:p.His117Gln, NP_001244140.1:p.His116Gln, NP_001244139.1:p.His117Gln, NP_001138407.1:p.His117Gln, NP_001244141.1:p.His116Gln, NP_001244134.1:p.His117Gln, NP_001244138.1:p.His117Gln

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