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Items: 1 to 20 of 945

1.

rs1490612239 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    4:82880889 (GRCh38)
    4:83802042 (GRCh37)
    Canonical SPDI:
    NC_000004.12:82880888:C:A
    Gene:
    SEC31A (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    NC_000004.12:g.82880889C>A, NC_000004.11:g.83802042C>A, NG_029569.3:g.24683G>T, NM_016211.5:c.113G>T, NM_016211.4:c.113G>T, NM_016211.3:c.113G>T, NM_001077207.4:c.113G>T, NM_001077207.3:c.113G>T, NM_001077207.2:c.113G>T, NM_001077208.4:c.113G>T, NM_001077208.3:c.113G>T, NM_001077208.2:c.113G>T, NM_001077206.4:c.113G>T, NM_001077206.3:c.113G>T, NM_001077206.2:c.113G>T, NM_001300745.3:c.113G>T, NM_001300745.2:c.113G>T, NM_001300745.1:c.113G>T, NM_001300744.3:c.113G>T, NM_001300744.2:c.113G>T, NM_001300744.1:c.113G>T, NM_001318120.2:c.113G>T, NM_001318120.1:c.113G>T, NM_001191049.2:c.98G>T, NM_001191049.1:c.98G>T, NM_001318119.2:c.113G>T, NM_001318119.1:c.113G>T, NM_001400158.1:c.113G>T, NM_001400160.1:c.113G>T, NM_001400190.1:c.113G>T, NM_001400166.1:c.113G>T, NM_001400193.1:c.113G>T, NM_001400191.1:c.113G>T, NM_001400203.1:c.113G>T, NM_001400206.1:c.113G>T, NM_001400209.1:c.113G>T, NM_001400154.1:c.113G>T, NM_001400155.1:c.113G>T, NM_001400156.1:c.113G>T, NM_001400159.1:c.113G>T, NM_001400157.1:c.113G>T, NM_001400214.1:c.98G>T, NM_001400161.1:c.113G>T, NM_001400162.1:c.113G>T, NM_001400165.1:c.113G>T, NM_001400164.1:c.113G>T, NM_001400167.1:c.113G>T, NM_001400168.1:c.113G>T, NM_001400188.1:c.113G>T, NM_001400186.1:c.113G>T, NM_001400184.1:c.113G>T, NM_001400180.1:c.113G>T, NM_001400194.1:c.113G>T, NM_001400200.1:c.113G>T, NM_001400198.1:c.113G>T, NM_001400202.1:c.113G>T, NM_001400197.1:c.113G>T, NM_001400204.1:c.113G>T, NM_001400205.1:c.113G>T, NM_001400212.1:c.98G>T, NM_001400208.1:c.113G>T, NM_001400207.1:c.113G>T, NM_001400211.1:c.113G>T, NM_001400210.1:c.113G>T, NM_001400224.1:c.-234G>T, NM_001400216.1:c.113G>T, NM_001400213.1:c.113G>T, NM_001400217.1:c.113G>T, NM_001400218.1:c.113G>T, NM_001400220.1:c.113G>T, NM_001400219.1:c.113G>T, NM_001400222.1:c.113G>T, NM_001400221.1:c.113G>T, NM_001400223.1:c.113G>T, NM_014933.3:c.113G>T, NP_057295.2:p.Ser38Ile, NP_001070675.1:p.Ser38Ile, NP_001070676.1:p.Ser38Ile, NP_001070674.1:p.Ser38Ile, NP_001287674.1:p.Ser38Ile, NP_001287673.1:p.Ser38Ile, NP_001305049.1:p.Ser38Ile, NP_001177978.1:p.Ser33Ile, NP_001305048.1:p.Ser38Ile, NP_001387087.1:p.Ser38Ile, NP_001387089.1:p.Ser38Ile, NP_001387119.1:p.Ser38Ile, NP_001387095.1:p.Ser38Ile, NP_001387122.1:p.Ser38Ile, NP_001387120.1:p.Ser38Ile, NP_001387132.1:p.Ser38Ile, NP_001387135.1:p.Ser38Ile, NP_001387138.1:p.Ser38Ile, NP_001387083.1:p.Ser38Ile, NP_001387084.1:p.Ser38Ile, NP_001387085.1:p.Ser38Ile, NP_001387088.1:p.Ser38Ile, NP_001387086.1:p.Ser38Ile, NP_001387143.1:p.Ser33Ile, NP_001387090.1:p.Ser38Ile, NP_001387091.1:p.Ser38Ile, NP_001387094.1:p.Ser38Ile, NP_001387093.1:p.Ser38Ile, NP_001387096.1:p.Ser38Ile, NP_001387097.1:p.Ser38Ile, NP_001387117.1:p.Ser38Ile, NP_001387115.1:p.Ser38Ile, NP_001387113.1:p.Ser38Ile, NP_001387109.1:p.Ser38Ile, NP_001387123.1:p.Ser38Ile, NP_001387129.1:p.Ser38Ile, NP_001387127.1:p.Ser38Ile, NP_001387131.1:p.Ser38Ile, NP_001387126.1:p.Ser38Ile, NP_001387133.1:p.Ser38Ile, NP_001387134.1:p.Ser38Ile, NP_001387141.1:p.Ser33Ile, NP_001387137.1:p.Ser38Ile, NP_001387136.1:p.Ser38Ile, NP_001387140.1:p.Ser38Ile, NP_001387139.1:p.Ser38Ile, NP_001387145.1:p.Ser38Ile, NP_001387142.1:p.Ser38Ile, NP_001387146.1:p.Ser38Ile, NP_001387147.1:p.Ser38Ile, NP_001387149.1:p.Ser38Ile, NP_001387148.1:p.Ser38Ile, NP_001387151.1:p.Ser38Ile, NP_001387150.1:p.Ser38Ile, NP_001387152.1:p.Ser38Ile

    2.

    rs1490558971 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      4:82854924 (GRCh38)
      4:83776077 (GRCh37)
      Canonical SPDI:
      NC_000004.12:82854923:C:A,NC_000004.12:82854923:C:T
      Gene:
      SEC31A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000031/1 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000004.12:g.82854924C>A, NC_000004.12:g.82854924C>T, NC_000004.11:g.83776077C>A, NC_000004.11:g.83776077C>T, NG_029569.3:g.50648G>T, NG_029569.3:g.50648G>A, NM_016211.5:c.1870G>T, NM_016211.5:c.1870G>A, NM_016211.4:c.1870G>T, NM_016211.4:c.1870G>A, NM_016211.3:c.1870G>T, NM_016211.3:c.1870G>A, NM_001077207.4:c.1987G>T, NM_001077207.4:c.1987G>A, NM_001077207.3:c.1987G>T, NM_001077207.3:c.1987G>A, NM_001077207.2:c.1987G>T, NM_001077207.2:c.1987G>A, NM_001077208.4:c.1987G>T, NM_001077208.4:c.1987G>A, NM_001077208.3:c.1987G>T, NM_001077208.3:c.1987G>A, NM_001077208.2:c.1987G>T, NM_001077208.2:c.1987G>A, NM_001077206.4:c.1987G>T, NM_001077206.4:c.1987G>A, NM_001077206.3:c.1987G>T, NM_001077206.3:c.1987G>A, NM_001077206.2:c.1987G>T, NM_001077206.2:c.1987G>A, NM_001300745.3:c.1870G>T, NM_001300745.3:c.1870G>A, NM_001300745.2:c.1870G>T, NM_001300745.2:c.1870G>A, NM_001300745.1:c.1870G>T, NM_001300745.1:c.1870G>A, NM_001300744.3:c.1870G>T, NM_001300744.3:c.1870G>A, NM_001300744.2:c.1870G>T, NM_001300744.2:c.1870G>A, NM_001300744.1:c.1870G>T, NM_001300744.1:c.1870G>A, NM_001318120.2:c.1987G>T, NM_001318120.2:c.1987G>A, NM_001318120.1:c.1987G>T, NM_001318120.1:c.1987G>A, NM_001191049.2:c.1972G>T, NM_001191049.2:c.1972G>A, NM_001191049.1:c.1972G>T, NM_001191049.1:c.1972G>A, NM_001318119.2:c.1987G>T, NM_001318119.2:c.1987G>A, NM_001318119.1:c.1987G>T, NM_001318119.1:c.1987G>A, NM_001400158.1:c.1987G>T, NM_001400158.1:c.1987G>A, NM_001400160.1:c.1909G>T, NM_001400160.1:c.1909G>A, NM_001400190.1:c.1987G>T, NM_001400190.1:c.1987G>A, NM_001400166.1:c.1987G>T, NM_001400166.1:c.1987G>A, NM_001400193.1:c.1987G>T, NM_001400193.1:c.1987G>A, NM_001400191.1:c.1987G>T, NM_001400191.1:c.1987G>A, NM_001400203.1:c.1909G>T, NM_001400203.1:c.1909G>A, NM_001400206.1:c.1948G>T, NM_001400206.1:c.1948G>A, NM_001400209.1:c.1870G>T, NM_001400209.1:c.1870G>A, NM_001400154.1:c.1987G>T, NM_001400154.1:c.1987G>A, NM_001400155.1:c.1987G>T, NM_001400155.1:c.1987G>A, NM_001400156.1:c.1987G>T, NM_001400156.1:c.1987G>A, NM_001400159.1:c.1987G>T, NM_001400159.1:c.1987G>A, NM_001400157.1:c.1987G>T, NM_001400157.1:c.1987G>A, NM_001400214.1:c.1972G>T, NM_001400214.1:c.1972G>A, NM_001400161.1:c.1870G>T, NM_001400161.1:c.1870G>A, NM_001400162.1:c.1948G>T, NM_001400162.1:c.1948G>A, NM_001400165.1:c.1948G>T, NM_001400165.1:c.1948G>A, NM_001400164.1:c.1987G>T, NM_001400164.1:c.1987G>A, NM_001400167.1:c.1870G>T, NM_001400167.1:c.1870G>A, NM_001400168.1:c.1870G>T, NM_001400168.1:c.1870G>A, NM_001400188.1:c.1909G>T, NM_001400188.1:c.1909G>A, NM_001400186.1:c.1948G>T, NM_001400186.1:c.1948G>A, NM_001400184.1:c.1948G>T, NM_001400184.1:c.1948G>A, NM_001400180.1:c.1909G>T, NM_001400180.1:c.1909G>A, NM_001400194.1:c.1987G>T, NM_001400194.1:c.1987G>A, NM_001400200.1:c.1909G>T, NM_001400200.1:c.1909G>A, NM_001400198.1:c.1870G>T, NM_001400198.1:c.1870G>A, NM_001400202.1:c.1870G>T, NM_001400202.1:c.1870G>A, NM_001400197.1:c.1909G>T, NM_001400197.1:c.1909G>A, NM_001400204.1:c.1948G>T, NM_001400204.1:c.1948G>A, NM_001400205.1:c.1948G>T, NM_001400205.1:c.1948G>A, NM_001400212.1:c.1972G>T, NM_001400212.1:c.1972G>A, NM_001400208.1:c.1987G>T, NM_001400208.1:c.1987G>A, NM_001400207.1:c.1870G>T, NM_001400207.1:c.1870G>A, NM_001400211.1:c.1909G>T, NM_001400211.1:c.1909G>A, NM_001400210.1:c.1909G>T, NM_001400210.1:c.1909G>A, NM_001400224.1:c.1513G>T, NM_001400224.1:c.1513G>A, NM_001400216.1:c.1948G>T, NM_001400216.1:c.1948G>A, NM_001400213.1:c.1870G>T, NM_001400213.1:c.1870G>A, NM_001400215.1:c.1708G>T, NM_001400215.1:c.1708G>A, NM_001400217.1:c.1987G>T, NM_001400217.1:c.1987G>A, NM_001400218.1:c.1870G>T, NM_001400218.1:c.1870G>A, NM_001400220.1:c.1987G>T, NM_001400220.1:c.1987G>A, NM_001400219.1:c.1987G>T, NM_001400219.1:c.1987G>A, NM_001400222.1:c.1909G>T, NM_001400222.1:c.1909G>A, NM_001400221.1:c.1909G>T, NM_001400221.1:c.1909G>A, NM_001400223.1:c.1870G>T, NM_001400223.1:c.1870G>A, NM_014933.3:c.1987G>T, NM_014933.3:c.1987G>A, NP_057295.2:p.Asp624Tyr, NP_057295.2:p.Asp624Asn, NP_001070675.1:p.Asp663Tyr, NP_001070675.1:p.Asp663Asn, NP_001070676.1:p.Asp663Tyr, NP_001070676.1:p.Asp663Asn, NP_001070674.1:p.Asp663Tyr, NP_001070674.1:p.Asp663Asn, NP_001287674.1:p.Asp624Tyr, NP_001287674.1:p.Asp624Asn, NP_001287673.1:p.Asp624Tyr, NP_001287673.1:p.Asp624Asn, NP_001305049.1:p.Asp663Tyr, NP_001305049.1:p.Asp663Asn, NP_001177978.1:p.Asp658Tyr, NP_001177978.1:p.Asp658Asn, NP_001305048.1:p.Asp663Tyr, NP_001305048.1:p.Asp663Asn, NP_001387087.1:p.Asp663Tyr, NP_001387087.1:p.Asp663Asn, NP_001387089.1:p.Asp637Tyr, NP_001387089.1:p.Asp637Asn, NP_001387119.1:p.Asp663Tyr, NP_001387119.1:p.Asp663Asn, NP_001387095.1:p.Asp663Tyr, NP_001387095.1:p.Asp663Asn, NP_001387122.1:p.Asp663Tyr, NP_001387122.1:p.Asp663Asn, NP_001387120.1:p.Asp663Tyr, NP_001387120.1:p.Asp663Asn, NP_001387132.1:p.Asp637Tyr, NP_001387132.1:p.Asp637Asn, NP_001387135.1:p.Asp650Tyr, NP_001387135.1:p.Asp650Asn, NP_001387138.1:p.Asp624Tyr, NP_001387138.1:p.Asp624Asn, NP_001387083.1:p.Asp663Tyr, NP_001387083.1:p.Asp663Asn, NP_001387084.1:p.Asp663Tyr, NP_001387084.1:p.Asp663Asn, NP_001387085.1:p.Asp663Tyr, NP_001387085.1:p.Asp663Asn, NP_001387088.1:p.Asp663Tyr, NP_001387088.1:p.Asp663Asn, NP_001387086.1:p.Asp663Tyr, NP_001387086.1:p.Asp663Asn, NP_001387143.1:p.Asp658Tyr, NP_001387143.1:p.Asp658Asn, NP_001387090.1:p.Asp624Tyr, NP_001387090.1:p.Asp624Asn, NP_001387091.1:p.Asp650Tyr, NP_001387091.1:p.Asp650Asn, NP_001387094.1:p.Asp650Tyr, NP_001387094.1:p.Asp650Asn, NP_001387093.1:p.Asp663Tyr, NP_001387093.1:p.Asp663Asn, NP_001387096.1:p.Asp624Tyr, NP_001387096.1:p.Asp624Asn, NP_001387097.1:p.Asp624Tyr, NP_001387097.1:p.Asp624Asn, NP_001387117.1:p.Asp637Tyr, NP_001387117.1:p.Asp637Asn, NP_001387115.1:p.Asp650Tyr, NP_001387115.1:p.Asp650Asn, NP_001387113.1:p.Asp650Tyr, NP_001387113.1:p.Asp650Asn, NP_001387109.1:p.Asp637Tyr, NP_001387109.1:p.Asp637Asn, NP_001387123.1:p.Asp663Tyr, NP_001387123.1:p.Asp663Asn, NP_001387129.1:p.Asp637Tyr, NP_001387129.1:p.Asp637Asn, NP_001387127.1:p.Asp624Tyr, NP_001387127.1:p.Asp624Asn, NP_001387131.1:p.Asp624Tyr, NP_001387131.1:p.Asp624Asn, NP_001387126.1:p.Asp637Tyr, NP_001387126.1:p.Asp637Asn, NP_001387133.1:p.Asp650Tyr, NP_001387133.1:p.Asp650Asn, NP_001387134.1:p.Asp650Tyr, NP_001387134.1:p.Asp650Asn, NP_001387141.1:p.Asp658Tyr, NP_001387141.1:p.Asp658Asn, NP_001387137.1:p.Asp663Tyr, NP_001387137.1:p.Asp663Asn, NP_001387136.1:p.Asp624Tyr, NP_001387136.1:p.Asp624Asn, NP_001387140.1:p.Asp637Tyr, NP_001387140.1:p.Asp637Asn, NP_001387139.1:p.Asp637Tyr, NP_001387139.1:p.Asp637Asn, NP_001387153.1:p.Asp505Tyr, NP_001387153.1:p.Asp505Asn, NP_001387145.1:p.Asp650Tyr, NP_001387145.1:p.Asp650Asn, NP_001387142.1:p.Asp624Tyr, NP_001387142.1:p.Asp624Asn, NP_001387144.1:p.Asp570Tyr, NP_001387144.1:p.Asp570Asn, NP_001387146.1:p.Asp663Tyr, NP_001387146.1:p.Asp663Asn, NP_001387147.1:p.Asp624Tyr, NP_001387147.1:p.Asp624Asn, NP_001387149.1:p.Asp663Tyr, NP_001387149.1:p.Asp663Asn, NP_001387148.1:p.Asp663Tyr, NP_001387148.1:p.Asp663Asn, NP_001387151.1:p.Asp637Tyr, NP_001387151.1:p.Asp637Asn, NP_001387150.1:p.Asp637Tyr, NP_001387150.1:p.Asp637Asn, NP_001387152.1:p.Asp624Tyr, NP_001387152.1:p.Asp624Asn

      3.

      rs1487213625 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:82881905 (GRCh38)
        4:83803058 (GRCh37)
        Canonical SPDI:
        NC_000004.12:82881904:A:G
        Gene:
        SEC31A (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.82881905A>G, NC_000004.11:g.83803058A>G, NG_029569.3:g.23667T>C, NM_016211.5:c.32T>C, NM_016211.4:c.32T>C, NM_016211.3:c.32T>C, NM_001077207.4:c.32T>C, NM_001077207.3:c.32T>C, NM_001077207.2:c.32T>C, NM_001077208.4:c.32T>C, NM_001077208.3:c.32T>C, NM_001077208.2:c.32T>C, NM_001077206.4:c.32T>C, NM_001077206.3:c.32T>C, NM_001077206.2:c.32T>C, NM_001300745.3:c.32T>C, NM_001300745.2:c.32T>C, NM_001300745.1:c.32T>C, NM_001300744.3:c.32T>C, NM_001300744.2:c.32T>C, NM_001300744.1:c.32T>C, NM_001318120.2:c.32T>C, NM_001318120.1:c.32T>C, NM_001318119.2:c.32T>C, NM_001318119.1:c.32T>C, NM_001400158.1:c.32T>C, NM_001400160.1:c.32T>C, NM_001400190.1:c.32T>C, NM_001400166.1:c.32T>C, NM_001400193.1:c.32T>C, NM_001400191.1:c.32T>C, NM_001400203.1:c.32T>C, NM_001400206.1:c.32T>C, NM_001400209.1:c.32T>C, NM_001400154.1:c.32T>C, NM_001400155.1:c.32T>C, NM_001400156.1:c.32T>C, NM_001400159.1:c.32T>C, NM_001400157.1:c.32T>C, NM_001400161.1:c.32T>C, NM_001400162.1:c.32T>C, NM_001400165.1:c.32T>C, NM_001400164.1:c.32T>C, NM_001400167.1:c.32T>C, NM_001400168.1:c.32T>C, NM_001400188.1:c.32T>C, NM_001400186.1:c.32T>C, NM_001400184.1:c.32T>C, NM_001400180.1:c.32T>C, NM_001400194.1:c.32T>C, NM_001400200.1:c.32T>C, NM_001400198.1:c.32T>C, NM_001400202.1:c.32T>C, NM_001400197.1:c.32T>C, NM_001400204.1:c.32T>C, NM_001400205.1:c.32T>C, NM_001400208.1:c.32T>C, NM_001400207.1:c.32T>C, NM_001400211.1:c.32T>C, NM_001400210.1:c.32T>C, NM_001400224.1:c.-315T>C, NM_001400216.1:c.32T>C, NM_001400213.1:c.32T>C, NM_001400215.1:c.-7T>C, NM_001400217.1:c.32T>C, NM_001400218.1:c.32T>C, NM_001400220.1:c.32T>C, NM_001400219.1:c.32T>C, NM_001400222.1:c.32T>C, NM_001400221.1:c.32T>C, NM_001400223.1:c.32T>C, NM_014933.3:c.32T>C, NP_057295.2:p.Met11Thr, NP_001070675.1:p.Met11Thr, NP_001070676.1:p.Met11Thr, NP_001070674.1:p.Met11Thr, NP_001287674.1:p.Met11Thr, NP_001287673.1:p.Met11Thr, NP_001305049.1:p.Met11Thr, NP_001305048.1:p.Met11Thr, NP_001387087.1:p.Met11Thr, NP_001387089.1:p.Met11Thr, NP_001387119.1:p.Met11Thr, NP_001387095.1:p.Met11Thr, NP_001387122.1:p.Met11Thr, NP_001387120.1:p.Met11Thr, NP_001387132.1:p.Met11Thr, NP_001387135.1:p.Met11Thr, NP_001387138.1:p.Met11Thr, NP_001387083.1:p.Met11Thr, NP_001387084.1:p.Met11Thr, NP_001387085.1:p.Met11Thr, NP_001387088.1:p.Met11Thr, NP_001387086.1:p.Met11Thr, NP_001387090.1:p.Met11Thr, NP_001387091.1:p.Met11Thr, NP_001387094.1:p.Met11Thr, NP_001387093.1:p.Met11Thr, NP_001387096.1:p.Met11Thr, NP_001387097.1:p.Met11Thr, NP_001387117.1:p.Met11Thr, NP_001387115.1:p.Met11Thr, NP_001387113.1:p.Met11Thr, NP_001387109.1:p.Met11Thr, NP_001387123.1:p.Met11Thr, NP_001387129.1:p.Met11Thr, NP_001387127.1:p.Met11Thr, NP_001387131.1:p.Met11Thr, NP_001387126.1:p.Met11Thr, NP_001387133.1:p.Met11Thr, NP_001387134.1:p.Met11Thr, NP_001387137.1:p.Met11Thr, NP_001387136.1:p.Met11Thr, NP_001387140.1:p.Met11Thr, NP_001387139.1:p.Met11Thr, NP_001387145.1:p.Met11Thr, NP_001387142.1:p.Met11Thr, NP_001387146.1:p.Met11Thr, NP_001387147.1:p.Met11Thr, NP_001387149.1:p.Met11Thr, NP_001387148.1:p.Met11Thr, NP_001387151.1:p.Met11Thr, NP_001387150.1:p.Met11Thr, NP_001387152.1:p.Met11Thr

        4.

        rs1486180500 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,T [Show Flanks]
          Chromosome:
          4:82872052 (GRCh38)
          4:83793205 (GRCh37)
          Canonical SPDI:
          NC_000004.12:82872051:A:C,NC_000004.12:82872051:A:T
          Gene:
          SEC31A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0./0 (KOREAN)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.82872052A>C, NC_000004.12:g.82872052A>T, NC_000004.11:g.83793205A>C, NC_000004.11:g.83793205A>T, NG_029569.3:g.33520T>G, NG_029569.3:g.33520T>A, NM_016211.5:c.674T>G, NM_016211.5:c.674T>A, NM_016211.4:c.674T>G, NM_016211.4:c.674T>A, NM_016211.3:c.674T>G, NM_016211.3:c.674T>A, NM_001077207.4:c.674T>G, NM_001077207.4:c.674T>A, NM_001077207.3:c.674T>G, NM_001077207.3:c.674T>A, NM_001077207.2:c.674T>G, NM_001077207.2:c.674T>A, NM_001077208.4:c.674T>G, NM_001077208.4:c.674T>A, NM_001077208.3:c.674T>G, NM_001077208.3:c.674T>A, NM_001077208.2:c.674T>G, NM_001077208.2:c.674T>A, NM_001077206.4:c.674T>G, NM_001077206.4:c.674T>A, NM_001077206.3:c.674T>G, NM_001077206.3:c.674T>A, NM_001077206.2:c.674T>G, NM_001077206.2:c.674T>A, NM_001300745.3:c.674T>G, NM_001300745.3:c.674T>A, NM_001300745.2:c.674T>G, NM_001300745.2:c.674T>A, NM_001300745.1:c.674T>G, NM_001300745.1:c.674T>A, NM_001300744.3:c.674T>G, NM_001300744.3:c.674T>A, NM_001300744.2:c.674T>G, NM_001300744.2:c.674T>A, NM_001300744.1:c.674T>G, NM_001300744.1:c.674T>A, NM_001318120.2:c.674T>G, NM_001318120.2:c.674T>A, NM_001318120.1:c.674T>G, NM_001318120.1:c.674T>A, NM_001191049.2:c.659T>G, NM_001191049.2:c.659T>A, NM_001191049.1:c.659T>G, NM_001191049.1:c.659T>A, NM_001318119.2:c.674T>G, NM_001318119.2:c.674T>A, NM_001318119.1:c.674T>G, NM_001318119.1:c.674T>A, NM_001400158.1:c.674T>G, NM_001400158.1:c.674T>A, NM_001400160.1:c.674T>G, NM_001400160.1:c.674T>A, NM_001400190.1:c.674T>G, NM_001400190.1:c.674T>A, NM_001400166.1:c.674T>G, NM_001400166.1:c.674T>A, NM_001400193.1:c.674T>G, NM_001400193.1:c.674T>A, NM_001400191.1:c.674T>G, NM_001400191.1:c.674T>A, NM_001400203.1:c.674T>G, NM_001400203.1:c.674T>A, NM_001400206.1:c.674T>G, NM_001400206.1:c.674T>A, NM_001400209.1:c.674T>G, NM_001400209.1:c.674T>A, NM_001400154.1:c.674T>G, NM_001400154.1:c.674T>A, NM_001400155.1:c.674T>G, NM_001400155.1:c.674T>A, NM_001400156.1:c.674T>G, NM_001400156.1:c.674T>A, NM_001400159.1:c.674T>G, NM_001400159.1:c.674T>A, NM_001400157.1:c.674T>G, NM_001400157.1:c.674T>A, NM_001400214.1:c.659T>G, NM_001400214.1:c.659T>A, NM_001400161.1:c.674T>G, NM_001400161.1:c.674T>A, NM_001400162.1:c.674T>G, NM_001400162.1:c.674T>A, NM_001400165.1:c.674T>G, NM_001400165.1:c.674T>A, NM_001400164.1:c.674T>G, NM_001400164.1:c.674T>A, NM_001400167.1:c.674T>G, NM_001400167.1:c.674T>A, NM_001400168.1:c.674T>G, NM_001400168.1:c.674T>A, NM_001400188.1:c.674T>G, NM_001400188.1:c.674T>A, NM_001400186.1:c.674T>G, NM_001400186.1:c.674T>A, NM_001400184.1:c.674T>G, NM_001400184.1:c.674T>A, NM_001400180.1:c.674T>G, NM_001400180.1:c.674T>A, NM_001400194.1:c.674T>G, NM_001400194.1:c.674T>A, NM_001400200.1:c.674T>G, NM_001400200.1:c.674T>A, NM_001400198.1:c.674T>G, NM_001400198.1:c.674T>A, NM_001400202.1:c.674T>G, NM_001400202.1:c.674T>A, NM_001400197.1:c.674T>G, NM_001400197.1:c.674T>A, NM_001400204.1:c.674T>G, NM_001400204.1:c.674T>A, NM_001400205.1:c.674T>G, NM_001400205.1:c.674T>A, NM_001400212.1:c.659T>G, NM_001400212.1:c.659T>A, NM_001400208.1:c.674T>G, NM_001400208.1:c.674T>A, NM_001400207.1:c.674T>G, NM_001400207.1:c.674T>A, NM_001400211.1:c.674T>G, NM_001400211.1:c.674T>A, NM_001400210.1:c.674T>G, NM_001400210.1:c.674T>A, NM_001400224.1:c.200T>G, NM_001400224.1:c.200T>A, NM_001400216.1:c.674T>G, NM_001400216.1:c.674T>A, NM_001400213.1:c.674T>G, NM_001400213.1:c.674T>A, NM_001400215.1:c.512T>G, NM_001400215.1:c.512T>A, NM_001400217.1:c.674T>G, NM_001400217.1:c.674T>A, NM_001400218.1:c.674T>G, NM_001400218.1:c.674T>A, NM_001400220.1:c.674T>G, NM_001400220.1:c.674T>A, NM_001400219.1:c.674T>G, NM_001400219.1:c.674T>A, NM_001400222.1:c.674T>G, NM_001400222.1:c.674T>A, NM_001400221.1:c.674T>G, NM_001400221.1:c.674T>A, NM_001400223.1:c.674T>G, NM_001400223.1:c.674T>A, NM_014933.3:c.674T>G, NM_014933.3:c.674T>A, NP_057295.2:p.Val225Gly, NP_057295.2:p.Val225Asp, NP_001070675.1:p.Val225Gly, NP_001070675.1:p.Val225Asp, NP_001070676.1:p.Val225Gly, NP_001070676.1:p.Val225Asp, NP_001070674.1:p.Val225Gly, NP_001070674.1:p.Val225Asp, NP_001287674.1:p.Val225Gly, NP_001287674.1:p.Val225Asp, NP_001287673.1:p.Val225Gly, NP_001287673.1:p.Val225Asp, NP_001305049.1:p.Val225Gly, NP_001305049.1:p.Val225Asp, NP_001177978.1:p.Val220Gly, NP_001177978.1:p.Val220Asp, NP_001305048.1:p.Val225Gly, NP_001305048.1:p.Val225Asp, NP_001387087.1:p.Val225Gly, NP_001387087.1:p.Val225Asp, NP_001387089.1:p.Val225Gly, NP_001387089.1:p.Val225Asp, NP_001387119.1:p.Val225Gly, NP_001387119.1:p.Val225Asp, NP_001387095.1:p.Val225Gly, NP_001387095.1:p.Val225Asp, NP_001387122.1:p.Val225Gly, NP_001387122.1:p.Val225Asp, NP_001387120.1:p.Val225Gly, NP_001387120.1:p.Val225Asp, NP_001387132.1:p.Val225Gly, NP_001387132.1:p.Val225Asp, NP_001387135.1:p.Val225Gly, NP_001387135.1:p.Val225Asp, NP_001387138.1:p.Val225Gly, NP_001387138.1:p.Val225Asp, NP_001387083.1:p.Val225Gly, NP_001387083.1:p.Val225Asp, NP_001387084.1:p.Val225Gly, NP_001387084.1:p.Val225Asp, NP_001387085.1:p.Val225Gly, NP_001387085.1:p.Val225Asp, NP_001387088.1:p.Val225Gly, NP_001387088.1:p.Val225Asp, NP_001387086.1:p.Val225Gly, NP_001387086.1:p.Val225Asp, NP_001387143.1:p.Val220Gly, NP_001387143.1:p.Val220Asp, NP_001387090.1:p.Val225Gly, NP_001387090.1:p.Val225Asp, NP_001387091.1:p.Val225Gly, NP_001387091.1:p.Val225Asp, NP_001387094.1:p.Val225Gly, NP_001387094.1:p.Val225Asp, NP_001387093.1:p.Val225Gly, NP_001387093.1:p.Val225Asp, NP_001387096.1:p.Val225Gly, NP_001387096.1:p.Val225Asp, NP_001387097.1:p.Val225Gly, NP_001387097.1:p.Val225Asp, NP_001387117.1:p.Val225Gly, NP_001387117.1:p.Val225Asp, NP_001387115.1:p.Val225Gly, NP_001387115.1:p.Val225Asp, NP_001387113.1:p.Val225Gly, NP_001387113.1:p.Val225Asp, NP_001387109.1:p.Val225Gly, NP_001387109.1:p.Val225Asp, NP_001387123.1:p.Val225Gly, NP_001387123.1:p.Val225Asp, NP_001387129.1:p.Val225Gly, NP_001387129.1:p.Val225Asp, NP_001387127.1:p.Val225Gly, NP_001387127.1:p.Val225Asp, NP_001387131.1:p.Val225Gly, NP_001387131.1:p.Val225Asp, NP_001387126.1:p.Val225Gly, NP_001387126.1:p.Val225Asp, NP_001387133.1:p.Val225Gly, NP_001387133.1:p.Val225Asp, NP_001387134.1:p.Val225Gly, NP_001387134.1:p.Val225Asp, NP_001387141.1:p.Val220Gly, NP_001387141.1:p.Val220Asp, NP_001387137.1:p.Val225Gly, NP_001387137.1:p.Val225Asp, NP_001387136.1:p.Val225Gly, NP_001387136.1:p.Val225Asp, NP_001387140.1:p.Val225Gly, NP_001387140.1:p.Val225Asp, NP_001387139.1:p.Val225Gly, NP_001387139.1:p.Val225Asp, NP_001387153.1:p.Val67Gly, NP_001387153.1:p.Val67Asp, NP_001387145.1:p.Val225Gly, NP_001387145.1:p.Val225Asp, NP_001387142.1:p.Val225Gly, NP_001387142.1:p.Val225Asp, NP_001387144.1:p.Val171Gly, NP_001387144.1:p.Val171Asp, NP_001387146.1:p.Val225Gly, NP_001387146.1:p.Val225Asp, NP_001387147.1:p.Val225Gly, NP_001387147.1:p.Val225Asp, NP_001387149.1:p.Val225Gly, NP_001387149.1:p.Val225Asp, NP_001387148.1:p.Val225Gly, NP_001387148.1:p.Val225Asp, NP_001387151.1:p.Val225Gly, NP_001387151.1:p.Val225Asp, NP_001387150.1:p.Val225Gly, NP_001387150.1:p.Val225Asp, NP_001387152.1:p.Val225Gly, NP_001387152.1:p.Val225Asp

          5.

          rs1485140652 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            4:82867246 (GRCh38)
            4:83788399 (GRCh37)
            Canonical SPDI:
            NC_000004.12:82867245:A:G
            Gene:
            SEC31A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.82867246A>G, NC_000004.11:g.83788399A>G, NG_029569.3:g.38326T>C, NM_016211.5:c.953T>C, NM_016211.4:c.953T>C, NM_016211.3:c.953T>C, NM_001077207.4:c.953T>C, NM_001077207.3:c.953T>C, NM_001077207.2:c.953T>C, NM_001077208.4:c.953T>C, NM_001077208.3:c.953T>C, NM_001077208.2:c.953T>C, NM_001077206.4:c.953T>C, NM_001077206.3:c.953T>C, NM_001077206.2:c.953T>C, NM_001300745.3:c.953T>C, NM_001300745.2:c.953T>C, NM_001300745.1:c.953T>C, NM_001300744.3:c.953T>C, NM_001300744.2:c.953T>C, NM_001300744.1:c.953T>C, NM_001318120.2:c.953T>C, NM_001318120.1:c.953T>C, NM_001191049.2:c.938T>C, NM_001191049.1:c.938T>C, NM_001318119.2:c.953T>C, NM_001318119.1:c.953T>C, NM_001400158.1:c.953T>C, NM_001400160.1:c.953T>C, NM_001400190.1:c.953T>C, NM_001400166.1:c.953T>C, NM_001400193.1:c.953T>C, NM_001400191.1:c.953T>C, NM_001400203.1:c.953T>C, NM_001400206.1:c.953T>C, NM_001400209.1:c.953T>C, NM_001400154.1:c.953T>C, NM_001400155.1:c.953T>C, NM_001400156.1:c.953T>C, NM_001400159.1:c.953T>C, NM_001400157.1:c.953T>C, NM_001400214.1:c.938T>C, NM_001400161.1:c.953T>C, NM_001400162.1:c.953T>C, NM_001400165.1:c.953T>C, NM_001400164.1:c.953T>C, NM_001400167.1:c.953T>C, NM_001400168.1:c.953T>C, NM_001400188.1:c.953T>C, NM_001400186.1:c.953T>C, NM_001400184.1:c.953T>C, NM_001400180.1:c.953T>C, NM_001400194.1:c.953T>C, NM_001400200.1:c.953T>C, NM_001400198.1:c.953T>C, NM_001400202.1:c.953T>C, NM_001400197.1:c.953T>C, NM_001400204.1:c.953T>C, NM_001400205.1:c.953T>C, NM_001400212.1:c.938T>C, NM_001400208.1:c.953T>C, NM_001400207.1:c.953T>C, NM_001400211.1:c.953T>C, NM_001400210.1:c.953T>C, NM_001400224.1:c.479T>C, NM_001400216.1:c.953T>C, NM_001400213.1:c.953T>C, NM_001400215.1:c.791T>C, NM_001400217.1:c.953T>C, NM_001400218.1:c.953T>C, NM_001400220.1:c.953T>C, NM_001400219.1:c.953T>C, NM_001400222.1:c.953T>C, NM_001400221.1:c.953T>C, NM_001400223.1:c.953T>C, NM_014933.3:c.953T>C, NP_057295.2:p.Val318Ala, NP_001070675.1:p.Val318Ala, NP_001070676.1:p.Val318Ala, NP_001070674.1:p.Val318Ala, NP_001287674.1:p.Val318Ala, NP_001287673.1:p.Val318Ala, NP_001305049.1:p.Val318Ala, NP_001177978.1:p.Val313Ala, NP_001305048.1:p.Val318Ala, NP_001387087.1:p.Val318Ala, NP_001387089.1:p.Val318Ala, NP_001387119.1:p.Val318Ala, NP_001387095.1:p.Val318Ala, NP_001387122.1:p.Val318Ala, NP_001387120.1:p.Val318Ala, NP_001387132.1:p.Val318Ala, NP_001387135.1:p.Val318Ala, NP_001387138.1:p.Val318Ala, NP_001387083.1:p.Val318Ala, NP_001387084.1:p.Val318Ala, NP_001387085.1:p.Val318Ala, NP_001387088.1:p.Val318Ala, NP_001387086.1:p.Val318Ala, NP_001387143.1:p.Val313Ala, NP_001387090.1:p.Val318Ala, NP_001387091.1:p.Val318Ala, NP_001387094.1:p.Val318Ala, NP_001387093.1:p.Val318Ala, NP_001387096.1:p.Val318Ala, NP_001387097.1:p.Val318Ala, NP_001387117.1:p.Val318Ala, NP_001387115.1:p.Val318Ala, NP_001387113.1:p.Val318Ala, NP_001387109.1:p.Val318Ala, NP_001387123.1:p.Val318Ala, NP_001387129.1:p.Val318Ala, NP_001387127.1:p.Val318Ala, NP_001387131.1:p.Val318Ala, NP_001387126.1:p.Val318Ala, NP_001387133.1:p.Val318Ala, NP_001387134.1:p.Val318Ala, NP_001387141.1:p.Val313Ala, NP_001387137.1:p.Val318Ala, NP_001387136.1:p.Val318Ala, NP_001387140.1:p.Val318Ala, NP_001387139.1:p.Val318Ala, NP_001387153.1:p.Val160Ala, NP_001387145.1:p.Val318Ala, NP_001387142.1:p.Val318Ala, NP_001387144.1:p.Val264Ala, NP_001387146.1:p.Val318Ala, NP_001387147.1:p.Val318Ala, NP_001387149.1:p.Val318Ala, NP_001387148.1:p.Val318Ala, NP_001387151.1:p.Val318Ala, NP_001387150.1:p.Val318Ala, NP_001387152.1:p.Val318Ala

            6.

            rs1483755294 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              4:82866946 (GRCh38)
              4:83788099 (GRCh37)
              Canonical SPDI:
              NC_000004.12:82866945:A:G
              Gene:
              SEC31A (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000004.12:g.82866946A>G, NC_000004.11:g.83788099A>G, NG_029569.3:g.38626T>C, NM_016211.5:c.1059T>C, NM_016211.4:c.1059T>C, NM_016211.3:c.1059T>C, NM_001077207.4:c.1059T>C, NM_001077207.3:c.1059T>C, NM_001077207.2:c.1059T>C, NM_001077208.4:c.1059T>C, NM_001077208.3:c.1059T>C, NM_001077208.2:c.1059T>C, NM_001077206.4:c.1059T>C, NM_001077206.3:c.1059T>C, NM_001077206.2:c.1059T>C, NM_001300745.3:c.1059T>C, NM_001300745.2:c.1059T>C, NM_001300745.1:c.1059T>C, NM_001300744.3:c.1059T>C, NM_001300744.2:c.1059T>C, NM_001300744.1:c.1059T>C, NM_001318120.2:c.1059T>C, NM_001318120.1:c.1059T>C, NM_001191049.2:c.1044T>C, NM_001191049.1:c.1044T>C, NM_001318119.2:c.1059T>C, NM_001318119.1:c.1059T>C, NM_001400158.1:c.1059T>C, NM_001400160.1:c.1059T>C, NM_001400190.1:c.1059T>C, NM_001400166.1:c.1059T>C, NM_001400193.1:c.1059T>C, NM_001400191.1:c.1059T>C, NM_001400203.1:c.1059T>C, NM_001400206.1:c.1059T>C, NM_001400209.1:c.1059T>C, NM_001400154.1:c.1059T>C, NM_001400155.1:c.1059T>C, NM_001400156.1:c.1059T>C, NM_001400159.1:c.1059T>C, NM_001400157.1:c.1059T>C, NM_001400214.1:c.1044T>C, NM_001400161.1:c.1059T>C, NM_001400162.1:c.1059T>C, NM_001400165.1:c.1059T>C, NM_001400164.1:c.1059T>C, NM_001400167.1:c.1059T>C, NM_001400168.1:c.1059T>C, NM_001400188.1:c.1059T>C, NM_001400186.1:c.1059T>C, NM_001400184.1:c.1059T>C, NM_001400180.1:c.1059T>C, NM_001400194.1:c.1059T>C, NM_001400200.1:c.1059T>C, NM_001400198.1:c.1059T>C, NM_001400202.1:c.1059T>C, NM_001400197.1:c.1059T>C, NM_001400204.1:c.1059T>C, NM_001400205.1:c.1059T>C, NM_001400212.1:c.1044T>C, NM_001400208.1:c.1059T>C, NM_001400207.1:c.1059T>C, NM_001400211.1:c.1059T>C, NM_001400210.1:c.1059T>C, NM_001400224.1:c.585T>C, NM_001400216.1:c.1059T>C, NM_001400213.1:c.1059T>C, NM_001400215.1:c.897T>C, NM_001400217.1:c.1059T>C, NM_001400218.1:c.1059T>C, NM_001400220.1:c.1059T>C, NM_001400219.1:c.1059T>C, NM_001400222.1:c.1059T>C, NM_001400221.1:c.1059T>C, NM_001400223.1:c.1059T>C, NM_014933.3:c.1059T>C

              7.

              rs1482654060 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:82853621 (GRCh38)
                4:83774774 (GRCh37)
                Canonical SPDI:
                NC_000004.12:82853620:T:C
                Gene:
                SEC31A (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000004.12:g.82853621T>C, NC_000004.11:g.83774774T>C, NG_029569.3:g.51951A>G, NM_016211.5:c.1986A>G, NM_016211.4:c.1986A>G, NM_016211.3:c.1986A>G, NM_001077207.4:c.2103A>G, NM_001077207.3:c.2103A>G, NM_001077207.2:c.2103A>G, NM_001077208.4:c.2103A>G, NM_001077208.3:c.2103A>G, NM_001077208.2:c.2103A>G, NM_001077206.4:c.2103A>G, NM_001077206.3:c.2103A>G, NM_001077206.2:c.2103A>G, NM_001300745.3:c.1986A>G, NM_001300745.2:c.1986A>G, NM_001300745.1:c.1986A>G, NM_001300744.3:c.1986A>G, NM_001300744.2:c.1986A>G, NM_001300744.1:c.1986A>G, NM_001318120.2:c.2103A>G, NM_001318120.1:c.2103A>G, NM_001191049.2:c.2088A>G, NM_001191049.1:c.2088A>G, NM_001318119.2:c.2103A>G, NM_001318119.1:c.2103A>G, NM_001400158.1:c.2103A>G, NM_001400160.1:c.2025A>G, NM_001400190.1:c.2103A>G, NM_001400166.1:c.2103A>G, NM_001400193.1:c.2103A>G, NM_001400191.1:c.2103A>G, NM_001400203.1:c.2025A>G, NM_001400206.1:c.2064A>G, NM_001400209.1:c.1986A>G, NM_001400154.1:c.2103A>G, NM_001400155.1:c.2103A>G, NM_001400156.1:c.2103A>G, NM_001400159.1:c.2103A>G, NM_001400157.1:c.2103A>G, NM_001400214.1:c.2088A>G, NM_001400161.1:c.1986A>G, NM_001400162.1:c.2064A>G, NM_001400165.1:c.2064A>G, NM_001400164.1:c.2103A>G, NM_001400167.1:c.1986A>G, NM_001400168.1:c.1986A>G, NM_001400188.1:c.2025A>G, NM_001400186.1:c.2064A>G, NM_001400184.1:c.2064A>G, NM_001400180.1:c.2025A>G, NM_001400194.1:c.2103A>G, NM_001400200.1:c.2025A>G, NM_001400198.1:c.1986A>G, NM_001400202.1:c.1986A>G, NM_001400197.1:c.2025A>G, NM_001400204.1:c.2064A>G, NM_001400205.1:c.2064A>G, NM_001400212.1:c.2088A>G, NM_001400208.1:c.2103A>G, NM_001400207.1:c.1986A>G, NM_001400211.1:c.2025A>G, NM_001400210.1:c.2025A>G, NM_001400224.1:c.1629A>G, NM_001400216.1:c.2064A>G, NM_001400213.1:c.1986A>G, NM_001400215.1:c.1824A>G, NM_001400217.1:c.2103A>G, NM_001400218.1:c.1986A>G, NM_001400220.1:c.2103A>G, NM_001400219.1:c.2103A>G, NM_001400222.1:c.2025A>G, NM_001400221.1:c.2025A>G, NM_001400223.1:c.1986A>G, NM_014933.3:c.2103A>G

                8.

                rs1479021561 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:82867259 (GRCh38)
                  4:83788412 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:82867258:G:A
                  Gene:
                  SEC31A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.82867259G>A, NC_000004.11:g.83788412G>A, NG_029569.3:g.38313C>T, NM_016211.5:c.940C>T, NM_016211.4:c.940C>T, NM_016211.3:c.940C>T, NM_001077207.4:c.940C>T, NM_001077207.3:c.940C>T, NM_001077207.2:c.940C>T, NM_001077208.4:c.940C>T, NM_001077208.3:c.940C>T, NM_001077208.2:c.940C>T, NM_001077206.4:c.940C>T, NM_001077206.3:c.940C>T, NM_001077206.2:c.940C>T, NM_001300745.3:c.940C>T, NM_001300745.2:c.940C>T, NM_001300745.1:c.940C>T, NM_001300744.3:c.940C>T, NM_001300744.2:c.940C>T, NM_001300744.1:c.940C>T, NM_001318120.2:c.940C>T, NM_001318120.1:c.940C>T, NM_001191049.2:c.925C>T, NM_001191049.1:c.925C>T, NM_001318119.2:c.940C>T, NM_001318119.1:c.940C>T, NM_001400158.1:c.940C>T, NM_001400160.1:c.940C>T, NM_001400190.1:c.940C>T, NM_001400166.1:c.940C>T, NM_001400193.1:c.940C>T, NM_001400191.1:c.940C>T, NM_001400203.1:c.940C>T, NM_001400206.1:c.940C>T, NM_001400209.1:c.940C>T, NM_001400154.1:c.940C>T, NM_001400155.1:c.940C>T, NM_001400156.1:c.940C>T, NM_001400159.1:c.940C>T, NM_001400157.1:c.940C>T, NM_001400214.1:c.925C>T, NM_001400161.1:c.940C>T, NM_001400162.1:c.940C>T, NM_001400165.1:c.940C>T, NM_001400164.1:c.940C>T, NM_001400167.1:c.940C>T, NM_001400168.1:c.940C>T, NM_001400188.1:c.940C>T, NM_001400186.1:c.940C>T, NM_001400184.1:c.940C>T, NM_001400180.1:c.940C>T, NM_001400194.1:c.940C>T, NM_001400200.1:c.940C>T, NM_001400198.1:c.940C>T, NM_001400202.1:c.940C>T, NM_001400197.1:c.940C>T, NM_001400204.1:c.940C>T, NM_001400205.1:c.940C>T, NM_001400212.1:c.925C>T, NM_001400208.1:c.940C>T, NM_001400207.1:c.940C>T, NM_001400211.1:c.940C>T, NM_001400210.1:c.940C>T, NM_001400224.1:c.466C>T, NM_001400216.1:c.940C>T, NM_001400213.1:c.940C>T, NM_001400215.1:c.778C>T, NM_001400217.1:c.940C>T, NM_001400218.1:c.940C>T, NM_001400220.1:c.940C>T, NM_001400219.1:c.940C>T, NM_001400222.1:c.940C>T, NM_001400221.1:c.940C>T, NM_001400223.1:c.940C>T, NM_014933.3:c.940C>T, NP_057295.2:p.Arg314Ter, NP_001070675.1:p.Arg314Ter, NP_001070676.1:p.Arg314Ter, NP_001070674.1:p.Arg314Ter, NP_001287674.1:p.Arg314Ter, NP_001287673.1:p.Arg314Ter, NP_001305049.1:p.Arg314Ter, NP_001177978.1:p.Arg309Ter, NP_001305048.1:p.Arg314Ter, NP_001387087.1:p.Arg314Ter, NP_001387089.1:p.Arg314Ter, NP_001387119.1:p.Arg314Ter, NP_001387095.1:p.Arg314Ter, NP_001387122.1:p.Arg314Ter, NP_001387120.1:p.Arg314Ter, NP_001387132.1:p.Arg314Ter, NP_001387135.1:p.Arg314Ter, NP_001387138.1:p.Arg314Ter, NP_001387083.1:p.Arg314Ter, NP_001387084.1:p.Arg314Ter, NP_001387085.1:p.Arg314Ter, NP_001387088.1:p.Arg314Ter, NP_001387086.1:p.Arg314Ter, NP_001387143.1:p.Arg309Ter, NP_001387090.1:p.Arg314Ter, NP_001387091.1:p.Arg314Ter, NP_001387094.1:p.Arg314Ter, NP_001387093.1:p.Arg314Ter, NP_001387096.1:p.Arg314Ter, NP_001387097.1:p.Arg314Ter, NP_001387117.1:p.Arg314Ter, NP_001387115.1:p.Arg314Ter, NP_001387113.1:p.Arg314Ter, NP_001387109.1:p.Arg314Ter, NP_001387123.1:p.Arg314Ter, NP_001387129.1:p.Arg314Ter, NP_001387127.1:p.Arg314Ter, NP_001387131.1:p.Arg314Ter, NP_001387126.1:p.Arg314Ter, NP_001387133.1:p.Arg314Ter, NP_001387134.1:p.Arg314Ter, NP_001387141.1:p.Arg309Ter, NP_001387137.1:p.Arg314Ter, NP_001387136.1:p.Arg314Ter, NP_001387140.1:p.Arg314Ter, NP_001387139.1:p.Arg314Ter, NP_001387153.1:p.Arg156Ter, NP_001387145.1:p.Arg314Ter, NP_001387142.1:p.Arg314Ter, NP_001387144.1:p.Arg260Ter, NP_001387146.1:p.Arg314Ter, NP_001387147.1:p.Arg314Ter, NP_001387149.1:p.Arg314Ter, NP_001387148.1:p.Arg314Ter, NP_001387151.1:p.Arg314Ter, NP_001387150.1:p.Arg314Ter, NP_001387152.1:p.Arg314Ter

                  9.

                  rs1478095062 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    4:82829048 (GRCh38)
                    4:83750201 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:82829047:A:C
                    Gene:
                    SEC31A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0./0 (Korea1K)
                    HGVS:
                    NC_000004.12:g.82829048A>C, NC_000004.11:g.83750201A>C, NG_029569.3:g.76524T>G, NM_016211.5:c.2862T>G, NM_016211.4:c.2862T>G, NM_016211.3:c.2862T>G, NM_001077207.4:c.2979T>G, NM_001077207.3:c.2979T>G, NM_001077207.2:c.2979T>G, NM_001077208.4:c.2934T>G, NM_001077208.3:c.2934T>G, NM_001077208.2:c.2934T>G, NM_001077206.4:c.2637T>G, NM_001077206.3:c.2637T>G, NM_001077206.2:c.2637T>G, NM_001300745.3:c.2817T>G, NM_001300745.2:c.2817T>G, NM_001300745.1:c.2817T>G, NM_001300744.3:c.2520T>G, NM_001300744.2:c.2520T>G, NM_001300744.1:c.2520T>G, NM_001318120.2:c.2979T>G, NM_001318120.1:c.2979T>G, NM_001191049.2:c.2919T>G, NM_001191049.1:c.2919T>G, NM_001318119.2:c.2934T>G, NM_001318119.1:c.2934T>G, NM_001400158.1:c.3018T>G, NM_001400160.1:c.2994T>G, NM_001400190.1:c.2934T>G, NM_001400166.1:c.2979T>G, NM_001400193.1:c.2934T>G, NM_001400191.1:c.2934T>G, NM_001400203.1:c.2901T>G, NM_001400206.1:c.2895T>G, NM_001400209.1:c.2862T>G, NM_001400154.1:c.3072T>G, NM_001400155.1:c.3072T>G, NM_001400156.1:c.3027T>G, NM_001400159.1:c.3018T>G, NM_001400157.1:c.3018T>G, NM_001400214.1:c.2964T>G, NM_001400161.1:c.2994T>G, NM_001400162.1:c.2988T>G, NM_001400165.1:c.2979T>G, NM_001400164.1:c.2979T>G, NM_001400167.1:c.2955T>G, NM_001400168.1:c.2955T>G, NM_001400188.1:c.2940T>G, NM_001400186.1:c.2940T>G, NM_001400184.1:c.2940T>G, NM_001400180.1:c.2940T>G, NM_001400194.1:c.2979T>G, NM_001400200.1:c.2901T>G, NM_001400198.1:c.2901T>G, NM_001400202.1:c.2901T>G, NM_001400197.1:c.2901T>G, NM_001400204.1:c.2895T>G, NM_001400205.1:c.2895T>G, NM_001400212.1:c.2919T>G, NM_001400208.1:c.2934T>G, NM_001400207.1:c.2862T>G, NM_001400211.1:c.2856T>G, NM_001400210.1:c.2856T>G, NM_001400224.1:c.2505T>G, NM_001400216.1:c.2895T>G, NM_001400213.1:c.2817T>G, NM_001400215.1:c.2700T>G, NM_001400217.1:c.2637T>G, NM_001400218.1:c.2613T>G, NM_001400220.1:c.2637T>G, NM_001400219.1:c.2637T>G, NM_001400222.1:c.2559T>G, NM_001400221.1:c.2559T>G, NM_001400223.1:c.2520T>G, NM_014933.3:c.2979T>G, NP_057295.2:p.Asn954Lys, NP_001070675.1:p.Asn993Lys, NP_001070676.1:p.Asn978Lys, NP_001070674.1:p.Asn879Lys, NP_001287674.1:p.Asn939Lys, NP_001287673.1:p.Asn840Lys, NP_001305049.1:p.Asn993Lys, NP_001177978.1:p.Asn973Lys, NP_001305048.1:p.Asn978Lys, NP_001387087.1:p.Asn1006Lys, NP_001387089.1:p.Asn998Lys, NP_001387119.1:p.Asn978Lys, NP_001387095.1:p.Asn993Lys, NP_001387122.1:p.Asn978Lys, NP_001387120.1:p.Asn978Lys, NP_001387132.1:p.Asn967Lys, NP_001387135.1:p.Asn965Lys, NP_001387138.1:p.Asn954Lys, NP_001387083.1:p.Asn1024Lys, NP_001387084.1:p.Asn1024Lys, NP_001387085.1:p.Asn1009Lys, NP_001387088.1:p.Asn1006Lys, NP_001387086.1:p.Asn1006Lys, NP_001387143.1:p.Asn988Lys, NP_001387090.1:p.Asn998Lys, NP_001387091.1:p.Asn996Lys, NP_001387094.1:p.Asn993Lys, NP_001387093.1:p.Asn993Lys, NP_001387096.1:p.Asn985Lys, NP_001387097.1:p.Asn985Lys, NP_001387117.1:p.Asn980Lys, NP_001387115.1:p.Asn980Lys, NP_001387113.1:p.Asn980Lys, NP_001387109.1:p.Asn980Lys, NP_001387123.1:p.Asn993Lys, NP_001387129.1:p.Asn967Lys, NP_001387127.1:p.Asn967Lys, NP_001387131.1:p.Asn967Lys, NP_001387126.1:p.Asn967Lys, NP_001387133.1:p.Asn965Lys, NP_001387134.1:p.Asn965Lys, NP_001387141.1:p.Asn973Lys, NP_001387137.1:p.Asn978Lys, NP_001387136.1:p.Asn954Lys, NP_001387140.1:p.Asn952Lys, NP_001387139.1:p.Asn952Lys, NP_001387153.1:p.Asn835Lys, NP_001387145.1:p.Asn965Lys, NP_001387142.1:p.Asn939Lys, NP_001387144.1:p.Asn900Lys, NP_001387146.1:p.Asn879Lys, NP_001387147.1:p.Asn871Lys, NP_001387149.1:p.Asn879Lys, NP_001387148.1:p.Asn879Lys, NP_001387151.1:p.Asn853Lys, NP_001387150.1:p.Asn853Lys, NP_001387152.1:p.Asn840Lys

                    10.

                    rs1477957321 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:82844460 (GRCh38)
                      4:83765613 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:82844459:G:A
                      Gene:
                      SEC31A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.82844460G>A, NC_000004.11:g.83765613G>A, NG_029569.3:g.61112C>T, NM_016211.5:c.2435C>T, NM_016211.4:c.2435C>T, NM_016211.3:c.2435C>T, NM_001077207.4:c.2552C>T, NM_001077207.3:c.2552C>T, NM_001077207.2:c.2552C>T, NM_001077208.4:c.2552C>T, NM_001077208.3:c.2552C>T, NM_001077208.2:c.2552C>T, NM_001077206.4:c.2552C>T, NM_001077206.3:c.2552C>T, NM_001077206.2:c.2552C>T, NM_001300745.3:c.2435C>T, NM_001300745.2:c.2435C>T, NM_001300745.1:c.2435C>T, NM_001300744.3:c.2435C>T, NM_001300744.2:c.2435C>T, NM_001300744.1:c.2435C>T, NM_001318120.2:c.2552C>T, NM_001318120.1:c.2552C>T, NM_001191049.2:c.2537C>T, NM_001191049.1:c.2537C>T, NM_001318119.2:c.2552C>T, NM_001318119.1:c.2552C>T, NM_001400158.1:c.2552C>T, NM_001400160.1:c.2567C>T, NM_001400190.1:c.2552C>T, NM_001400166.1:c.2552C>T, NM_001400193.1:c.2552C>T, NM_001400191.1:c.2552C>T, NM_001400203.1:c.2474C>T, NM_001400206.1:c.2513C>T, NM_001400209.1:c.2435C>T, NM_001400154.1:c.2645C>T, NM_001400155.1:c.2645C>T, NM_001400156.1:c.2645C>T, NM_001400159.1:c.2552C>T, NM_001400157.1:c.2552C>T, NM_001400214.1:c.2537C>T, NM_001400161.1:c.2528C>T, NM_001400162.1:c.2606C>T, NM_001400165.1:c.2513C>T, NM_001400164.1:c.2552C>T, NM_001400167.1:c.2528C>T, NM_001400168.1:c.2528C>T, NM_001400188.1:c.2474C>T, NM_001400186.1:c.2513C>T, NM_001400184.1:c.2513C>T, NM_001400180.1:c.2474C>T, NM_001400194.1:c.2552C>T, NM_001400200.1:c.2474C>T, NM_001400198.1:c.2435C>T, NM_001400202.1:c.2435C>T, NM_001400197.1:c.2474C>T, NM_001400204.1:c.2513C>T, NM_001400205.1:c.2513C>T, NM_001400212.1:c.2537C>T, NM_001400208.1:c.2552C>T, NM_001400207.1:c.2435C>T, NM_001400211.1:c.2474C>T, NM_001400210.1:c.2474C>T, NM_001400224.1:c.2078C>T, NM_001400216.1:c.2513C>T, NM_001400213.1:c.2435C>T, NM_001400215.1:c.2273C>T, NM_001400217.1:c.2552C>T, NM_001400218.1:c.2528C>T, NM_001400220.1:c.2552C>T, NM_001400219.1:c.2552C>T, NM_001400222.1:c.2474C>T, NM_001400221.1:c.2474C>T, NM_001400223.1:c.2435C>T, NM_014933.3:c.2552C>T, NP_057295.2:p.Pro812Leu, NP_001070675.1:p.Pro851Leu, NP_001070676.1:p.Pro851Leu, NP_001070674.1:p.Pro851Leu, NP_001287674.1:p.Pro812Leu, NP_001287673.1:p.Pro812Leu, NP_001305049.1:p.Pro851Leu, NP_001177978.1:p.Pro846Leu, NP_001305048.1:p.Pro851Leu, NP_001387087.1:p.Pro851Leu, NP_001387089.1:p.Pro856Leu, NP_001387119.1:p.Pro851Leu, NP_001387095.1:p.Pro851Leu, NP_001387122.1:p.Pro851Leu, NP_001387120.1:p.Pro851Leu, NP_001387132.1:p.Pro825Leu, NP_001387135.1:p.Pro838Leu, NP_001387138.1:p.Pro812Leu, NP_001387083.1:p.Pro882Leu, NP_001387084.1:p.Pro882Leu, NP_001387085.1:p.Pro882Leu, NP_001387088.1:p.Pro851Leu, NP_001387086.1:p.Pro851Leu, NP_001387143.1:p.Pro846Leu, NP_001387090.1:p.Pro843Leu, NP_001387091.1:p.Pro869Leu, NP_001387094.1:p.Pro838Leu, NP_001387093.1:p.Pro851Leu, NP_001387096.1:p.Pro843Leu, NP_001387097.1:p.Pro843Leu, NP_001387117.1:p.Pro825Leu, NP_001387115.1:p.Pro838Leu, NP_001387113.1:p.Pro838Leu, NP_001387109.1:p.Pro825Leu, NP_001387123.1:p.Pro851Leu, NP_001387129.1:p.Pro825Leu, NP_001387127.1:p.Pro812Leu, NP_001387131.1:p.Pro812Leu, NP_001387126.1:p.Pro825Leu, NP_001387133.1:p.Pro838Leu, NP_001387134.1:p.Pro838Leu, NP_001387141.1:p.Pro846Leu, NP_001387137.1:p.Pro851Leu, NP_001387136.1:p.Pro812Leu, NP_001387140.1:p.Pro825Leu, NP_001387139.1:p.Pro825Leu, NP_001387153.1:p.Pro693Leu, NP_001387145.1:p.Pro838Leu, NP_001387142.1:p.Pro812Leu, NP_001387144.1:p.Pro758Leu, NP_001387146.1:p.Pro851Leu, NP_001387147.1:p.Pro843Leu, NP_001387149.1:p.Pro851Leu, NP_001387148.1:p.Pro851Leu, NP_001387151.1:p.Pro825Leu, NP_001387150.1:p.Pro825Leu, NP_001387152.1:p.Pro812Leu

                      11.

                      rs1476028024 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        4:82855026 (GRCh38)
                        4:83776179 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:82855025:T:C,NC_000004.12:82855025:T:G
                        Gene:
                        SEC31A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000031/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000004.12:g.82855026T>C, NC_000004.12:g.82855026T>G, NC_000004.11:g.83776179T>C, NC_000004.11:g.83776179T>G, NG_029569.3:g.50546A>G, NG_029569.3:g.50546A>C, NM_016211.5:c.1768A>G, NM_016211.5:c.1768A>C, NM_016211.4:c.1768A>G, NM_016211.4:c.1768A>C, NM_016211.3:c.1768A>G, NM_016211.3:c.1768A>C, NM_001077207.4:c.1885A>G, NM_001077207.4:c.1885A>C, NM_001077207.3:c.1885A>G, NM_001077207.3:c.1885A>C, NM_001077207.2:c.1885A>G, NM_001077207.2:c.1885A>C, NM_001077208.4:c.1885A>G, NM_001077208.4:c.1885A>C, NM_001077208.3:c.1885A>G, NM_001077208.3:c.1885A>C, NM_001077208.2:c.1885A>G, NM_001077208.2:c.1885A>C, NM_001077206.4:c.1885A>G, NM_001077206.4:c.1885A>C, NM_001077206.3:c.1885A>G, NM_001077206.3:c.1885A>C, NM_001077206.2:c.1885A>G, NM_001077206.2:c.1885A>C, NM_001300745.3:c.1768A>G, NM_001300745.3:c.1768A>C, NM_001300745.2:c.1768A>G, NM_001300745.2:c.1768A>C, NM_001300745.1:c.1768A>G, NM_001300745.1:c.1768A>C, NM_001300744.3:c.1768A>G, NM_001300744.3:c.1768A>C, NM_001300744.2:c.1768A>G, NM_001300744.2:c.1768A>C, NM_001300744.1:c.1768A>G, NM_001300744.1:c.1768A>C, NM_001318120.2:c.1885A>G, NM_001318120.2:c.1885A>C, NM_001318120.1:c.1885A>G, NM_001318120.1:c.1885A>C, NM_001191049.2:c.1870A>G, NM_001191049.2:c.1870A>C, NM_001191049.1:c.1870A>G, NM_001191049.1:c.1870A>C, NM_001318119.2:c.1885A>G, NM_001318119.2:c.1885A>C, NM_001318119.1:c.1885A>G, NM_001318119.1:c.1885A>C, NM_001400158.1:c.1885A>G, NM_001400158.1:c.1885A>C, NM_001400160.1:c.1807A>G, NM_001400160.1:c.1807A>C, NM_001400190.1:c.1885A>G, NM_001400190.1:c.1885A>C, NM_001400166.1:c.1885A>G, NM_001400166.1:c.1885A>C, NM_001400193.1:c.1885A>G, NM_001400193.1:c.1885A>C, NM_001400191.1:c.1885A>G, NM_001400191.1:c.1885A>C, NM_001400203.1:c.1807A>G, NM_001400203.1:c.1807A>C, NM_001400206.1:c.1846A>G, NM_001400206.1:c.1846A>C, NM_001400209.1:c.1768A>G, NM_001400209.1:c.1768A>C, NM_001400154.1:c.1885A>G, NM_001400154.1:c.1885A>C, NM_001400155.1:c.1885A>G, NM_001400155.1:c.1885A>C, NM_001400156.1:c.1885A>G, NM_001400156.1:c.1885A>C, NM_001400159.1:c.1885A>G, NM_001400159.1:c.1885A>C, NM_001400157.1:c.1885A>G, NM_001400157.1:c.1885A>C, NM_001400214.1:c.1870A>G, NM_001400214.1:c.1870A>C, NM_001400161.1:c.1768A>G, NM_001400161.1:c.1768A>C, NM_001400162.1:c.1846A>G, NM_001400162.1:c.1846A>C, NM_001400165.1:c.1846A>G, NM_001400165.1:c.1846A>C, NM_001400164.1:c.1885A>G, NM_001400164.1:c.1885A>C, NM_001400167.1:c.1768A>G, NM_001400167.1:c.1768A>C, NM_001400168.1:c.1768A>G, NM_001400168.1:c.1768A>C, NM_001400188.1:c.1807A>G, NM_001400188.1:c.1807A>C, NM_001400186.1:c.1846A>G, NM_001400186.1:c.1846A>C, NM_001400184.1:c.1846A>G, NM_001400184.1:c.1846A>C, NM_001400180.1:c.1807A>G, NM_001400180.1:c.1807A>C, NM_001400194.1:c.1885A>G, NM_001400194.1:c.1885A>C, NM_001400200.1:c.1807A>G, NM_001400200.1:c.1807A>C, NM_001400198.1:c.1768A>G, NM_001400198.1:c.1768A>C, NM_001400202.1:c.1768A>G, NM_001400202.1:c.1768A>C, NM_001400197.1:c.1807A>G, NM_001400197.1:c.1807A>C, NM_001400204.1:c.1846A>G, NM_001400204.1:c.1846A>C, NM_001400205.1:c.1846A>G, NM_001400205.1:c.1846A>C, NM_001400212.1:c.1870A>G, NM_001400212.1:c.1870A>C, NM_001400208.1:c.1885A>G, NM_001400208.1:c.1885A>C, NM_001400207.1:c.1768A>G, NM_001400207.1:c.1768A>C, NM_001400211.1:c.1807A>G, NM_001400211.1:c.1807A>C, NM_001400210.1:c.1807A>G, NM_001400210.1:c.1807A>C, NM_001400224.1:c.1411A>G, NM_001400224.1:c.1411A>C, NM_001400216.1:c.1846A>G, NM_001400216.1:c.1846A>C, NM_001400213.1:c.1768A>G, NM_001400213.1:c.1768A>C, NM_001400215.1:c.1606A>G, NM_001400215.1:c.1606A>C, NM_001400217.1:c.1885A>G, NM_001400217.1:c.1885A>C, NM_001400218.1:c.1768A>G, NM_001400218.1:c.1768A>C, NM_001400220.1:c.1885A>G, NM_001400220.1:c.1885A>C, NM_001400219.1:c.1885A>G, NM_001400219.1:c.1885A>C, NM_001400222.1:c.1807A>G, NM_001400222.1:c.1807A>C, NM_001400221.1:c.1807A>G, NM_001400221.1:c.1807A>C, NM_001400223.1:c.1768A>G, NM_001400223.1:c.1768A>C, NM_014933.3:c.1885A>G, NM_014933.3:c.1885A>C, NP_057295.2:p.Ile590Val, NP_057295.2:p.Ile590Leu, NP_001070675.1:p.Ile629Val, NP_001070675.1:p.Ile629Leu, NP_001070676.1:p.Ile629Val, NP_001070676.1:p.Ile629Leu, NP_001070674.1:p.Ile629Val, NP_001070674.1:p.Ile629Leu, NP_001287674.1:p.Ile590Val, NP_001287674.1:p.Ile590Leu, NP_001287673.1:p.Ile590Val, NP_001287673.1:p.Ile590Leu, NP_001305049.1:p.Ile629Val, NP_001305049.1:p.Ile629Leu, NP_001177978.1:p.Ile624Val, NP_001177978.1:p.Ile624Leu, NP_001305048.1:p.Ile629Val, NP_001305048.1:p.Ile629Leu, NP_001387087.1:p.Ile629Val, NP_001387087.1:p.Ile629Leu, NP_001387089.1:p.Ile603Val, NP_001387089.1:p.Ile603Leu, NP_001387119.1:p.Ile629Val, NP_001387119.1:p.Ile629Leu, NP_001387095.1:p.Ile629Val, NP_001387095.1:p.Ile629Leu, NP_001387122.1:p.Ile629Val, NP_001387122.1:p.Ile629Leu, NP_001387120.1:p.Ile629Val, NP_001387120.1:p.Ile629Leu, NP_001387132.1:p.Ile603Val, NP_001387132.1:p.Ile603Leu, NP_001387135.1:p.Ile616Val, NP_001387135.1:p.Ile616Leu, NP_001387138.1:p.Ile590Val, NP_001387138.1:p.Ile590Leu, NP_001387083.1:p.Ile629Val, NP_001387083.1:p.Ile629Leu, NP_001387084.1:p.Ile629Val, NP_001387084.1:p.Ile629Leu, NP_001387085.1:p.Ile629Val, NP_001387085.1:p.Ile629Leu, NP_001387088.1:p.Ile629Val, NP_001387088.1:p.Ile629Leu, NP_001387086.1:p.Ile629Val, NP_001387086.1:p.Ile629Leu, NP_001387143.1:p.Ile624Val, NP_001387143.1:p.Ile624Leu, NP_001387090.1:p.Ile590Val, NP_001387090.1:p.Ile590Leu, NP_001387091.1:p.Ile616Val, NP_001387091.1:p.Ile616Leu, NP_001387094.1:p.Ile616Val, NP_001387094.1:p.Ile616Leu, NP_001387093.1:p.Ile629Val, NP_001387093.1:p.Ile629Leu, NP_001387096.1:p.Ile590Val, NP_001387096.1:p.Ile590Leu, NP_001387097.1:p.Ile590Val, NP_001387097.1:p.Ile590Leu, NP_001387117.1:p.Ile603Val, NP_001387117.1:p.Ile603Leu, NP_001387115.1:p.Ile616Val, NP_001387115.1:p.Ile616Leu, NP_001387113.1:p.Ile616Val, NP_001387113.1:p.Ile616Leu, NP_001387109.1:p.Ile603Val, NP_001387109.1:p.Ile603Leu, NP_001387123.1:p.Ile629Val, NP_001387123.1:p.Ile629Leu, NP_001387129.1:p.Ile603Val, NP_001387129.1:p.Ile603Leu, NP_001387127.1:p.Ile590Val, NP_001387127.1:p.Ile590Leu, NP_001387131.1:p.Ile590Val, NP_001387131.1:p.Ile590Leu, NP_001387126.1:p.Ile603Val, NP_001387126.1:p.Ile603Leu, NP_001387133.1:p.Ile616Val, NP_001387133.1:p.Ile616Leu, NP_001387134.1:p.Ile616Val, NP_001387134.1:p.Ile616Leu, NP_001387141.1:p.Ile624Val, NP_001387141.1:p.Ile624Leu, NP_001387137.1:p.Ile629Val, NP_001387137.1:p.Ile629Leu, NP_001387136.1:p.Ile590Val, NP_001387136.1:p.Ile590Leu, NP_001387140.1:p.Ile603Val, NP_001387140.1:p.Ile603Leu, NP_001387139.1:p.Ile603Val, NP_001387139.1:p.Ile603Leu, NP_001387153.1:p.Ile471Val, NP_001387153.1:p.Ile471Leu, NP_001387145.1:p.Ile616Val, NP_001387145.1:p.Ile616Leu, NP_001387142.1:p.Ile590Val, NP_001387142.1:p.Ile590Leu, NP_001387144.1:p.Ile536Val, NP_001387144.1:p.Ile536Leu, NP_001387146.1:p.Ile629Val, NP_001387146.1:p.Ile629Leu, NP_001387147.1:p.Ile590Val, NP_001387147.1:p.Ile590Leu, NP_001387149.1:p.Ile629Val, NP_001387149.1:p.Ile629Leu, NP_001387148.1:p.Ile629Val, NP_001387148.1:p.Ile629Leu, NP_001387151.1:p.Ile603Val, NP_001387151.1:p.Ile603Leu, NP_001387150.1:p.Ile603Val, NP_001387150.1:p.Ile603Leu, NP_001387152.1:p.Ile590Val, NP_001387152.1:p.Ile590Leu

                        12.

                        rs1475104512 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          4:82874715 (GRCh38)
                          4:83795868 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:82874714:G:C
                          Gene:
                          SEC31A (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.82874715G>C, NC_000004.11:g.83795868G>C, NG_029569.3:g.30857C>G, NM_016211.5:c.535C>G, NM_016211.4:c.535C>G, NM_016211.3:c.535C>G, NM_001077207.4:c.535C>G, NM_001077207.3:c.535C>G, NM_001077207.2:c.535C>G, NM_001077208.4:c.535C>G, NM_001077208.3:c.535C>G, NM_001077208.2:c.535C>G, NM_001077206.4:c.535C>G, NM_001077206.3:c.535C>G, NM_001077206.2:c.535C>G, NM_001300745.3:c.535C>G, NM_001300745.2:c.535C>G, NM_001300745.1:c.535C>G, NM_001300744.3:c.535C>G, NM_001300744.2:c.535C>G, NM_001300744.1:c.535C>G, NM_001318120.2:c.535C>G, NM_001318120.1:c.535C>G, NM_001191049.2:c.520C>G, NM_001191049.1:c.520C>G, NM_001318119.2:c.535C>G, NM_001318119.1:c.535C>G, NM_001400158.1:c.535C>G, NM_001400160.1:c.535C>G, NM_001400190.1:c.535C>G, NM_001400166.1:c.535C>G, NM_001400193.1:c.535C>G, NM_001400191.1:c.535C>G, NM_001400203.1:c.535C>G, NM_001400206.1:c.535C>G, NM_001400209.1:c.535C>G, NM_001400154.1:c.535C>G, NM_001400155.1:c.535C>G, NM_001400156.1:c.535C>G, NM_001400159.1:c.535C>G, NM_001400157.1:c.535C>G, NM_001400214.1:c.520C>G, NM_001400161.1:c.535C>G, NM_001400162.1:c.535C>G, NM_001400165.1:c.535C>G, NM_001400164.1:c.535C>G, NM_001400167.1:c.535C>G, NM_001400168.1:c.535C>G, NM_001400188.1:c.535C>G, NM_001400186.1:c.535C>G, NM_001400184.1:c.535C>G, NM_001400180.1:c.535C>G, NM_001400194.1:c.535C>G, NM_001400200.1:c.535C>G, NM_001400198.1:c.535C>G, NM_001400202.1:c.535C>G, NM_001400197.1:c.535C>G, NM_001400204.1:c.535C>G, NM_001400205.1:c.535C>G, NM_001400212.1:c.520C>G, NM_001400208.1:c.535C>G, NM_001400207.1:c.535C>G, NM_001400211.1:c.535C>G, NM_001400210.1:c.535C>G, NM_001400224.1:c.61C>G, NM_001400216.1:c.535C>G, NM_001400213.1:c.535C>G, NM_001400215.1:c.373C>G, NM_001400217.1:c.535C>G, NM_001400218.1:c.535C>G, NM_001400220.1:c.535C>G, NM_001400219.1:c.535C>G, NM_001400222.1:c.535C>G, NM_001400221.1:c.535C>G, NM_001400223.1:c.535C>G, NM_014933.3:c.535C>G, NP_057295.2:p.Gln179Glu, NP_001070675.1:p.Gln179Glu, NP_001070676.1:p.Gln179Glu, NP_001070674.1:p.Gln179Glu, NP_001287674.1:p.Gln179Glu, NP_001287673.1:p.Gln179Glu, NP_001305049.1:p.Gln179Glu, NP_001177978.1:p.Gln174Glu, NP_001305048.1:p.Gln179Glu, NP_001387087.1:p.Gln179Glu, NP_001387089.1:p.Gln179Glu, NP_001387119.1:p.Gln179Glu, NP_001387095.1:p.Gln179Glu, NP_001387122.1:p.Gln179Glu, NP_001387120.1:p.Gln179Glu, NP_001387132.1:p.Gln179Glu, NP_001387135.1:p.Gln179Glu, NP_001387138.1:p.Gln179Glu, NP_001387083.1:p.Gln179Glu, NP_001387084.1:p.Gln179Glu, NP_001387085.1:p.Gln179Glu, NP_001387088.1:p.Gln179Glu, NP_001387086.1:p.Gln179Glu, NP_001387143.1:p.Gln174Glu, NP_001387090.1:p.Gln179Glu, NP_001387091.1:p.Gln179Glu, NP_001387094.1:p.Gln179Glu, NP_001387093.1:p.Gln179Glu, NP_001387096.1:p.Gln179Glu, NP_001387097.1:p.Gln179Glu, NP_001387117.1:p.Gln179Glu, NP_001387115.1:p.Gln179Glu, NP_001387113.1:p.Gln179Glu, NP_001387109.1:p.Gln179Glu, NP_001387123.1:p.Gln179Glu, NP_001387129.1:p.Gln179Glu, NP_001387127.1:p.Gln179Glu, NP_001387131.1:p.Gln179Glu, NP_001387126.1:p.Gln179Glu, NP_001387133.1:p.Gln179Glu, NP_001387134.1:p.Gln179Glu, NP_001387141.1:p.Gln174Glu, NP_001387137.1:p.Gln179Glu, NP_001387136.1:p.Gln179Glu, NP_001387140.1:p.Gln179Glu, NP_001387139.1:p.Gln179Glu, NP_001387153.1:p.Gln21Glu, NP_001387145.1:p.Gln179Glu, NP_001387142.1:p.Gln179Glu, NP_001387144.1:p.Gln125Glu, NP_001387146.1:p.Gln179Glu, NP_001387147.1:p.Gln179Glu, NP_001387149.1:p.Gln179Glu, NP_001387148.1:p.Gln179Glu, NP_001387151.1:p.Gln179Glu, NP_001387150.1:p.Gln179Glu, NP_001387152.1:p.Gln179Glu

                          13.

                          rs1473718277 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            4:82864516 (GRCh38)
                            4:83785669 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:82864515:A:C
                            Gene:
                            SEC31A (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_000004.12:g.82864516A>C, NC_000004.11:g.83785669A>C, NG_029569.3:g.41056T>G, NM_016211.5:c.1280T>G, NM_016211.4:c.1280T>G, NM_016211.3:c.1280T>G, NM_001077207.4:c.1280T>G, NM_001077207.3:c.1280T>G, NM_001077207.2:c.1280T>G, NM_001077208.4:c.1280T>G, NM_001077208.3:c.1280T>G, NM_001077208.2:c.1280T>G, NM_001077206.4:c.1280T>G, NM_001077206.3:c.1280T>G, NM_001077206.2:c.1280T>G, NM_001300745.3:c.1280T>G, NM_001300745.2:c.1280T>G, NM_001300745.1:c.1280T>G, NM_001300744.3:c.1280T>G, NM_001300744.2:c.1280T>G, NM_001300744.1:c.1280T>G, NM_001318120.2:c.1280T>G, NM_001318120.1:c.1280T>G, NM_001191049.2:c.1265T>G, NM_001191049.1:c.1265T>G, NM_001318119.2:c.1280T>G, NM_001318119.1:c.1280T>G, NM_001400158.1:c.1280T>G, NM_001400160.1:c.1280T>G, NM_001400190.1:c.1280T>G, NM_001400166.1:c.1280T>G, NM_001400193.1:c.1280T>G, NM_001400191.1:c.1280T>G, NM_001400203.1:c.1280T>G, NM_001400206.1:c.1280T>G, NM_001400209.1:c.1280T>G, NM_001400154.1:c.1280T>G, NM_001400155.1:c.1280T>G, NM_001400156.1:c.1280T>G, NM_001400159.1:c.1280T>G, NM_001400157.1:c.1280T>G, NM_001400214.1:c.1265T>G, NM_001400161.1:c.1280T>G, NM_001400162.1:c.1280T>G, NM_001400165.1:c.1280T>G, NM_001400164.1:c.1280T>G, NM_001400167.1:c.1280T>G, NM_001400168.1:c.1280T>G, NM_001400188.1:c.1280T>G, NM_001400186.1:c.1280T>G, NM_001400184.1:c.1280T>G, NM_001400180.1:c.1280T>G, NM_001400194.1:c.1280T>G, NM_001400200.1:c.1280T>G, NM_001400198.1:c.1280T>G, NM_001400202.1:c.1280T>G, NM_001400197.1:c.1280T>G, NM_001400204.1:c.1280T>G, NM_001400205.1:c.1280T>G, NM_001400212.1:c.1265T>G, NM_001400208.1:c.1280T>G, NM_001400207.1:c.1280T>G, NM_001400211.1:c.1280T>G, NM_001400210.1:c.1280T>G, NM_001400224.1:c.806T>G, NM_001400216.1:c.1280T>G, NM_001400213.1:c.1280T>G, NM_001400215.1:c.1118T>G, NM_001400217.1:c.1280T>G, NM_001400218.1:c.1280T>G, NM_001400220.1:c.1280T>G, NM_001400219.1:c.1280T>G, NM_001400222.1:c.1280T>G, NM_001400221.1:c.1280T>G, NM_001400223.1:c.1280T>G, NM_014933.3:c.1280T>G, NP_057295.2:p.Val427Gly, NP_001070675.1:p.Val427Gly, NP_001070676.1:p.Val427Gly, NP_001070674.1:p.Val427Gly, NP_001287674.1:p.Val427Gly, NP_001287673.1:p.Val427Gly, NP_001305049.1:p.Val427Gly, NP_001177978.1:p.Val422Gly, NP_001305048.1:p.Val427Gly, NP_001387087.1:p.Val427Gly, NP_001387089.1:p.Val427Gly, NP_001387119.1:p.Val427Gly, NP_001387095.1:p.Val427Gly, NP_001387122.1:p.Val427Gly, NP_001387120.1:p.Val427Gly, NP_001387132.1:p.Val427Gly, NP_001387135.1:p.Val427Gly, NP_001387138.1:p.Val427Gly, NP_001387083.1:p.Val427Gly, NP_001387084.1:p.Val427Gly, NP_001387085.1:p.Val427Gly, NP_001387088.1:p.Val427Gly, NP_001387086.1:p.Val427Gly, NP_001387143.1:p.Val422Gly, NP_001387090.1:p.Val427Gly, NP_001387091.1:p.Val427Gly, NP_001387094.1:p.Val427Gly, NP_001387093.1:p.Val427Gly, NP_001387096.1:p.Val427Gly, NP_001387097.1:p.Val427Gly, NP_001387117.1:p.Val427Gly, NP_001387115.1:p.Val427Gly, NP_001387113.1:p.Val427Gly, NP_001387109.1:p.Val427Gly, NP_001387123.1:p.Val427Gly, NP_001387129.1:p.Val427Gly, NP_001387127.1:p.Val427Gly, NP_001387131.1:p.Val427Gly, NP_001387126.1:p.Val427Gly, NP_001387133.1:p.Val427Gly, NP_001387134.1:p.Val427Gly, NP_001387141.1:p.Val422Gly, NP_001387137.1:p.Val427Gly, NP_001387136.1:p.Val427Gly, NP_001387140.1:p.Val427Gly, NP_001387139.1:p.Val427Gly, NP_001387153.1:p.Val269Gly, NP_001387145.1:p.Val427Gly, NP_001387142.1:p.Val427Gly, NP_001387144.1:p.Val373Gly, NP_001387146.1:p.Val427Gly, NP_001387147.1:p.Val427Gly, NP_001387149.1:p.Val427Gly, NP_001387148.1:p.Val427Gly, NP_001387151.1:p.Val427Gly, NP_001387150.1:p.Val427Gly, NP_001387152.1:p.Val427Gly

                            14.

                            rs1472212749 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              4:82856970 (GRCh38)
                              4:83778123 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:82856969:G:A
                              Gene:
                              SEC31A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000043/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000004.12:g.82856970G>A, NC_000004.11:g.83778123G>A, NG_029569.3:g.48602C>T, NM_016211.5:c.1746C>T, NM_016211.4:c.1746C>T, NM_016211.3:c.1746C>T, NM_001077207.4:c.1863C>T, NM_001077207.3:c.1863C>T, NM_001077207.2:c.1863C>T, NM_001077208.4:c.1863C>T, NM_001077208.3:c.1863C>T, NM_001077208.2:c.1863C>T, NM_001077206.4:c.1863C>T, NM_001077206.3:c.1863C>T, NM_001077206.2:c.1863C>T, NM_001300745.3:c.1746C>T, NM_001300745.2:c.1746C>T, NM_001300745.1:c.1746C>T, NM_001300744.3:c.1746C>T, NM_001300744.2:c.1746C>T, NM_001300744.1:c.1746C>T, NM_001318120.2:c.1863C>T, NM_001318120.1:c.1863C>T, NM_001191049.2:c.1848C>T, NM_001191049.1:c.1848C>T, NM_001318119.2:c.1863C>T, NM_001318119.1:c.1863C>T, NM_001400158.1:c.1863C>T, NM_001400160.1:c.1785C>T, NM_001400190.1:c.1863C>T, NM_001400166.1:c.1863C>T, NM_001400193.1:c.1863C>T, NM_001400191.1:c.1863C>T, NM_001400203.1:c.1785C>T, NM_001400206.1:c.1824C>T, NM_001400209.1:c.1746C>T, NM_001400154.1:c.1863C>T, NM_001400155.1:c.1863C>T, NM_001400156.1:c.1863C>T, NM_001400159.1:c.1863C>T, NM_001400157.1:c.1863C>T, NM_001400214.1:c.1848C>T, NM_001400161.1:c.1746C>T, NM_001400162.1:c.1824C>T, NM_001400165.1:c.1824C>T, NM_001400164.1:c.1863C>T, NM_001400167.1:c.1746C>T, NM_001400168.1:c.1746C>T, NM_001400188.1:c.1785C>T, NM_001400186.1:c.1824C>T, NM_001400184.1:c.1824C>T, NM_001400180.1:c.1785C>T, NM_001400194.1:c.1863C>T, NM_001400200.1:c.1785C>T, NM_001400198.1:c.1746C>T, NM_001400202.1:c.1746C>T, NM_001400197.1:c.1785C>T, NM_001400204.1:c.1824C>T, NM_001400205.1:c.1824C>T, NM_001400212.1:c.1848C>T, NM_001400208.1:c.1863C>T, NM_001400207.1:c.1746C>T, NM_001400211.1:c.1785C>T, NM_001400210.1:c.1785C>T, NM_001400224.1:c.1389C>T, NM_001400216.1:c.1824C>T, NM_001400213.1:c.1746C>T, NM_001400215.1:c.1584C>T, NM_001400217.1:c.1863C>T, NM_001400218.1:c.1746C>T, NM_001400220.1:c.1863C>T, NM_001400219.1:c.1863C>T, NM_001400222.1:c.1785C>T, NM_001400221.1:c.1785C>T, NM_001400223.1:c.1746C>T, NM_014933.3:c.1863C>T

                              15.

                              rs1468354107 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:82827576 (GRCh38)
                                4:83748729 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:82827575:C:T
                                Gene:
                                SEC31A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000004.12:g.82827576C>T, NC_000004.11:g.83748729C>T, NG_029569.3:g.77996G>A, NM_016211.5:c.2967G>A, NM_016211.4:c.2967G>A, NM_016211.3:c.2967G>A, NM_001077207.4:c.3084G>A, NM_001077207.3:c.3084G>A, NM_001077207.2:c.3084G>A, NM_001077208.4:c.3039G>A, NM_001077208.3:c.3039G>A, NM_001077208.2:c.3039G>A, NM_001077206.4:c.2742G>A, NM_001077206.3:c.2742G>A, NM_001077206.2:c.2742G>A, NM_001300745.3:c.2922G>A, NM_001300745.2:c.2922G>A, NM_001300745.1:c.2922G>A, NM_001300744.3:c.2625G>A, NM_001300744.2:c.2625G>A, NM_001300744.1:c.2625G>A, NM_001318120.2:c.3084G>A, NM_001318120.1:c.3084G>A, NM_001191049.2:c.3024G>A, NM_001191049.1:c.3024G>A, NM_001318119.2:c.3039G>A, NM_001318119.1:c.3039G>A, NM_001400158.1:c.3123G>A, NM_001400160.1:c.3099G>A, NM_001400190.1:c.3039G>A, NM_001400166.1:c.3084G>A, NM_001400193.1:c.3039G>A, NM_001400191.1:c.3039G>A, NM_001400203.1:c.3006G>A, NM_001400206.1:c.3000G>A, NM_001400209.1:c.2967G>A, NM_001400154.1:c.3177G>A, NM_001400155.1:c.3177G>A, NM_001400156.1:c.3132G>A, NM_001400159.1:c.3123G>A, NM_001400157.1:c.3123G>A, NM_001400214.1:c.3069G>A, NM_001400161.1:c.3099G>A, NM_001400162.1:c.3093G>A, NM_001400165.1:c.3084G>A, NM_001400164.1:c.3084G>A, NM_001400167.1:c.3060G>A, NM_001400168.1:c.3060G>A, NM_001400188.1:c.3045G>A, NM_001400186.1:c.3045G>A, NM_001400184.1:c.3045G>A, NM_001400180.1:c.3045G>A, NM_001400194.1:c.3084G>A, NM_001400200.1:c.3006G>A, NM_001400198.1:c.3006G>A, NM_001400202.1:c.3006G>A, NM_001400197.1:c.3006G>A, NM_001400204.1:c.3000G>A, NM_001400205.1:c.3000G>A, NM_001400212.1:c.3024G>A, NM_001400208.1:c.3039G>A, NM_001400207.1:c.2967G>A, NM_001400211.1:c.2961G>A, NM_001400210.1:c.2961G>A, NM_001400224.1:c.2610G>A, NM_001400216.1:c.3000G>A, NM_001400213.1:c.2922G>A, NM_001400215.1:c.2805G>A, NM_001400217.1:c.2742G>A, NM_001400218.1:c.2718G>A, NM_001400220.1:c.2742G>A, NM_001400219.1:c.2742G>A, NM_001400222.1:c.2664G>A, NM_001400221.1:c.2664G>A, NM_001400223.1:c.2625G>A, NM_014933.3:c.3084G>A

                                16.

                                rs1468191737 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:82854930 (GRCh38)
                                  4:83776083 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:82854929:T:C
                                  Gene:
                                  SEC31A (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.82854930T>C, NC_000004.11:g.83776083T>C, NG_029569.3:g.50642A>G, NM_016211.5:c.1864A>G, NM_016211.4:c.1864A>G, NM_016211.3:c.1864A>G, NM_001077207.4:c.1981A>G, NM_001077207.3:c.1981A>G, NM_001077207.2:c.1981A>G, NM_001077208.4:c.1981A>G, NM_001077208.3:c.1981A>G, NM_001077208.2:c.1981A>G, NM_001077206.4:c.1981A>G, NM_001077206.3:c.1981A>G, NM_001077206.2:c.1981A>G, NM_001300745.3:c.1864A>G, NM_001300745.2:c.1864A>G, NM_001300745.1:c.1864A>G, NM_001300744.3:c.1864A>G, NM_001300744.2:c.1864A>G, NM_001300744.1:c.1864A>G, NM_001318120.2:c.1981A>G, NM_001318120.1:c.1981A>G, NM_001191049.2:c.1966A>G, NM_001191049.1:c.1966A>G, NM_001318119.2:c.1981A>G, NM_001318119.1:c.1981A>G, NM_001400158.1:c.1981A>G, NM_001400160.1:c.1903A>G, NM_001400190.1:c.1981A>G, NM_001400166.1:c.1981A>G, NM_001400193.1:c.1981A>G, NM_001400191.1:c.1981A>G, NM_001400203.1:c.1903A>G, NM_001400206.1:c.1942A>G, NM_001400209.1:c.1864A>G, NM_001400154.1:c.1981A>G, NM_001400155.1:c.1981A>G, NM_001400156.1:c.1981A>G, NM_001400159.1:c.1981A>G, NM_001400157.1:c.1981A>G, NM_001400214.1:c.1966A>G, NM_001400161.1:c.1864A>G, NM_001400162.1:c.1942A>G, NM_001400165.1:c.1942A>G, NM_001400164.1:c.1981A>G, NM_001400167.1:c.1864A>G, NM_001400168.1:c.1864A>G, NM_001400188.1:c.1903A>G, NM_001400186.1:c.1942A>G, NM_001400184.1:c.1942A>G, NM_001400180.1:c.1903A>G, NM_001400194.1:c.1981A>G, NM_001400200.1:c.1903A>G, NM_001400198.1:c.1864A>G, NM_001400202.1:c.1864A>G, NM_001400197.1:c.1903A>G, NM_001400204.1:c.1942A>G, NM_001400205.1:c.1942A>G, NM_001400212.1:c.1966A>G, NM_001400208.1:c.1981A>G, NM_001400207.1:c.1864A>G, NM_001400211.1:c.1903A>G, NM_001400210.1:c.1903A>G, NM_001400224.1:c.1507A>G, NM_001400216.1:c.1942A>G, NM_001400213.1:c.1864A>G, NM_001400215.1:c.1702A>G, NM_001400217.1:c.1981A>G, NM_001400218.1:c.1864A>G, NM_001400220.1:c.1981A>G, NM_001400219.1:c.1981A>G, NM_001400222.1:c.1903A>G, NM_001400221.1:c.1903A>G, NM_001400223.1:c.1864A>G, NM_014933.3:c.1981A>G, NP_057295.2:p.Lys622Glu, NP_001070675.1:p.Lys661Glu, NP_001070676.1:p.Lys661Glu, NP_001070674.1:p.Lys661Glu, NP_001287674.1:p.Lys622Glu, NP_001287673.1:p.Lys622Glu, NP_001305049.1:p.Lys661Glu, NP_001177978.1:p.Lys656Glu, NP_001305048.1:p.Lys661Glu, NP_001387087.1:p.Lys661Glu, NP_001387089.1:p.Lys635Glu, NP_001387119.1:p.Lys661Glu, NP_001387095.1:p.Lys661Glu, NP_001387122.1:p.Lys661Glu, NP_001387120.1:p.Lys661Glu, NP_001387132.1:p.Lys635Glu, NP_001387135.1:p.Lys648Glu, NP_001387138.1:p.Lys622Glu, NP_001387083.1:p.Lys661Glu, NP_001387084.1:p.Lys661Glu, NP_001387085.1:p.Lys661Glu, NP_001387088.1:p.Lys661Glu, NP_001387086.1:p.Lys661Glu, NP_001387143.1:p.Lys656Glu, NP_001387090.1:p.Lys622Glu, NP_001387091.1:p.Lys648Glu, NP_001387094.1:p.Lys648Glu, NP_001387093.1:p.Lys661Glu, NP_001387096.1:p.Lys622Glu, NP_001387097.1:p.Lys622Glu, NP_001387117.1:p.Lys635Glu, NP_001387115.1:p.Lys648Glu, NP_001387113.1:p.Lys648Glu, NP_001387109.1:p.Lys635Glu, NP_001387123.1:p.Lys661Glu, NP_001387129.1:p.Lys635Glu, NP_001387127.1:p.Lys622Glu, NP_001387131.1:p.Lys622Glu, NP_001387126.1:p.Lys635Glu, NP_001387133.1:p.Lys648Glu, NP_001387134.1:p.Lys648Glu, NP_001387141.1:p.Lys656Glu, NP_001387137.1:p.Lys661Glu, NP_001387136.1:p.Lys622Glu, NP_001387140.1:p.Lys635Glu, NP_001387139.1:p.Lys635Glu, NP_001387153.1:p.Lys503Glu, NP_001387145.1:p.Lys648Glu, NP_001387142.1:p.Lys622Glu, NP_001387144.1:p.Lys568Glu, NP_001387146.1:p.Lys661Glu, NP_001387147.1:p.Lys622Glu, NP_001387149.1:p.Lys661Glu, NP_001387148.1:p.Lys661Glu, NP_001387151.1:p.Lys635Glu, NP_001387150.1:p.Lys635Glu, NP_001387152.1:p.Lys622Glu

                                  17.

                                  rs1466443200 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    4:82844398 (GRCh38)
                                    4:83765551 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:82844397:G:C
                                    Gene:
                                    SEC31A (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.82844398G>C, NC_000004.11:g.83765551G>C, NG_029569.3:g.61174C>G, NM_016211.5:c.2497C>G, NM_016211.4:c.2497C>G, NM_016211.3:c.2497C>G, NM_001077207.4:c.2614C>G, NM_001077207.3:c.2614C>G, NM_001077207.2:c.2614C>G, NM_001077208.4:c.2614C>G, NM_001077208.3:c.2614C>G, NM_001077208.2:c.2614C>G, NM_001077206.4:c.2614C>G, NM_001077206.3:c.2614C>G, NM_001077206.2:c.2614C>G, NM_001300745.3:c.2497C>G, NM_001300745.2:c.2497C>G, NM_001300745.1:c.2497C>G, NM_001300744.3:c.2497C>G, NM_001300744.2:c.2497C>G, NM_001300744.1:c.2497C>G, NM_001318120.2:c.2614C>G, NM_001318120.1:c.2614C>G, NM_001191049.2:c.2599C>G, NM_001191049.1:c.2599C>G, NM_001318119.2:c.2614C>G, NM_001318119.1:c.2614C>G, NM_001400158.1:c.2614C>G, NM_001400160.1:c.2629C>G, NM_001400190.1:c.2614C>G, NM_001400166.1:c.2614C>G, NM_001400193.1:c.2614C>G, NM_001400191.1:c.2614C>G, NM_001400203.1:c.2536C>G, NM_001400206.1:c.2575C>G, NM_001400209.1:c.2497C>G, NM_001400154.1:c.2707C>G, NM_001400155.1:c.2707C>G, NM_001400156.1:c.2707C>G, NM_001400159.1:c.2614C>G, NM_001400157.1:c.2614C>G, NM_001400214.1:c.2599C>G, NM_001400161.1:c.2590C>G, NM_001400162.1:c.2668C>G, NM_001400165.1:c.2575C>G, NM_001400164.1:c.2614C>G, NM_001400167.1:c.2590C>G, NM_001400168.1:c.2590C>G, NM_001400188.1:c.2536C>G, NM_001400186.1:c.2575C>G, NM_001400184.1:c.2575C>G, NM_001400180.1:c.2536C>G, NM_001400194.1:c.2614C>G, NM_001400200.1:c.2536C>G, NM_001400198.1:c.2497C>G, NM_001400202.1:c.2497C>G, NM_001400197.1:c.2536C>G, NM_001400204.1:c.2575C>G, NM_001400205.1:c.2575C>G, NM_001400212.1:c.2599C>G, NM_001400208.1:c.2614C>G, NM_001400207.1:c.2497C>G, NM_001400211.1:c.2536C>G, NM_001400210.1:c.2536C>G, NM_001400224.1:c.2140C>G, NM_001400216.1:c.2575C>G, NM_001400213.1:c.2497C>G, NM_001400215.1:c.2335C>G, NM_001400217.1:c.2614C>G, NM_001400218.1:c.2590C>G, NM_001400220.1:c.2614C>G, NM_001400219.1:c.2614C>G, NM_001400222.1:c.2536C>G, NM_001400221.1:c.2536C>G, NM_001400223.1:c.2497C>G, NM_014933.3:c.2614C>G, NP_057295.2:p.Pro833Ala, NP_001070675.1:p.Pro872Ala, NP_001070676.1:p.Pro872Ala, NP_001070674.1:p.Pro872Ala, NP_001287674.1:p.Pro833Ala, NP_001287673.1:p.Pro833Ala, NP_001305049.1:p.Pro872Ala, NP_001177978.1:p.Pro867Ala, NP_001305048.1:p.Pro872Ala, NP_001387087.1:p.Pro872Ala, NP_001387089.1:p.Pro877Ala, NP_001387119.1:p.Pro872Ala, NP_001387095.1:p.Pro872Ala, NP_001387122.1:p.Pro872Ala, NP_001387120.1:p.Pro872Ala, NP_001387132.1:p.Pro846Ala, NP_001387135.1:p.Pro859Ala, NP_001387138.1:p.Pro833Ala, NP_001387083.1:p.Pro903Ala, NP_001387084.1:p.Pro903Ala, NP_001387085.1:p.Pro903Ala, NP_001387088.1:p.Pro872Ala, NP_001387086.1:p.Pro872Ala, NP_001387143.1:p.Pro867Ala, NP_001387090.1:p.Pro864Ala, NP_001387091.1:p.Pro890Ala, NP_001387094.1:p.Pro859Ala, NP_001387093.1:p.Pro872Ala, NP_001387096.1:p.Pro864Ala, NP_001387097.1:p.Pro864Ala, NP_001387117.1:p.Pro846Ala, NP_001387115.1:p.Pro859Ala, NP_001387113.1:p.Pro859Ala, NP_001387109.1:p.Pro846Ala, NP_001387123.1:p.Pro872Ala, NP_001387129.1:p.Pro846Ala, NP_001387127.1:p.Pro833Ala, NP_001387131.1:p.Pro833Ala, NP_001387126.1:p.Pro846Ala, NP_001387133.1:p.Pro859Ala, NP_001387134.1:p.Pro859Ala, NP_001387141.1:p.Pro867Ala, NP_001387137.1:p.Pro872Ala, NP_001387136.1:p.Pro833Ala, NP_001387140.1:p.Pro846Ala, NP_001387139.1:p.Pro846Ala, NP_001387153.1:p.Pro714Ala, NP_001387145.1:p.Pro859Ala, NP_001387142.1:p.Pro833Ala, NP_001387144.1:p.Pro779Ala, NP_001387146.1:p.Pro872Ala, NP_001387147.1:p.Pro864Ala, NP_001387149.1:p.Pro872Ala, NP_001387148.1:p.Pro872Ala, NP_001387151.1:p.Pro846Ala, NP_001387150.1:p.Pro846Ala, NP_001387152.1:p.Pro833Ala

                                    18.

                                    rs1465362827 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:82870340 (GRCh38)
                                      4:83791493 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:82870339:A:G
                                      Gene:
                                      SEC31A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.82870340A>G, NC_000004.11:g.83791493A>G, NG_029569.3:g.35232T>C, NM_016211.5:c.867T>C, NM_016211.4:c.867T>C, NM_016211.3:c.867T>C, NM_001077207.4:c.867T>C, NM_001077207.3:c.867T>C, NM_001077207.2:c.867T>C, NM_001077208.4:c.867T>C, NM_001077208.3:c.867T>C, NM_001077208.2:c.867T>C, NM_001077206.4:c.867T>C, NM_001077206.3:c.867T>C, NM_001077206.2:c.867T>C, NM_001300745.3:c.867T>C, NM_001300745.2:c.867T>C, NM_001300745.1:c.867T>C, NM_001300744.3:c.867T>C, NM_001300744.2:c.867T>C, NM_001300744.1:c.867T>C, NM_001318120.2:c.867T>C, NM_001318120.1:c.867T>C, NM_001191049.2:c.852T>C, NM_001191049.1:c.852T>C, NM_001318119.2:c.867T>C, NM_001318119.1:c.867T>C, NM_001400158.1:c.867T>C, NM_001400160.1:c.867T>C, NM_001400190.1:c.867T>C, NM_001400166.1:c.867T>C, NM_001400193.1:c.867T>C, NM_001400191.1:c.867T>C, NM_001400203.1:c.867T>C, NM_001400206.1:c.867T>C, NM_001400209.1:c.867T>C, NM_001400154.1:c.867T>C, NM_001400155.1:c.867T>C, NM_001400156.1:c.867T>C, NM_001400159.1:c.867T>C, NM_001400157.1:c.867T>C, NM_001400214.1:c.852T>C, NM_001400161.1:c.867T>C, NM_001400162.1:c.867T>C, NM_001400165.1:c.867T>C, NM_001400164.1:c.867T>C, NM_001400167.1:c.867T>C, NM_001400168.1:c.867T>C, NM_001400188.1:c.867T>C, NM_001400186.1:c.867T>C, NM_001400184.1:c.867T>C, NM_001400180.1:c.867T>C, NM_001400194.1:c.867T>C, NM_001400200.1:c.867T>C, NM_001400198.1:c.867T>C, NM_001400202.1:c.867T>C, NM_001400197.1:c.867T>C, NM_001400204.1:c.867T>C, NM_001400205.1:c.867T>C, NM_001400212.1:c.852T>C, NM_001400208.1:c.867T>C, NM_001400207.1:c.867T>C, NM_001400211.1:c.867T>C, NM_001400210.1:c.867T>C, NM_001400224.1:c.393T>C, NM_001400216.1:c.867T>C, NM_001400213.1:c.867T>C, NM_001400215.1:c.705T>C, NM_001400217.1:c.867T>C, NM_001400218.1:c.867T>C, NM_001400220.1:c.867T>C, NM_001400219.1:c.867T>C, NM_001400222.1:c.867T>C, NM_001400221.1:c.867T>C, NM_001400223.1:c.867T>C, NM_014933.3:c.867T>C

                                      19.

                                      rs1464745691 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        4:82864387 (GRCh38)
                                        4:83785540 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:82864386:T:G
                                        Gene:
                                        SEC31A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000004.12:g.82864387T>G, NC_000004.11:g.83785540T>G, NG_029569.3:g.41185A>C, NM_016211.5:c.1409A>C, NM_016211.4:c.1409A>C, NM_016211.3:c.1409A>C, NM_001077207.4:c.1409A>C, NM_001077207.3:c.1409A>C, NM_001077207.2:c.1409A>C, NM_001077208.4:c.1409A>C, NM_001077208.3:c.1409A>C, NM_001077208.2:c.1409A>C, NM_001077206.4:c.1409A>C, NM_001077206.3:c.1409A>C, NM_001077206.2:c.1409A>C, NM_001300745.3:c.1409A>C, NM_001300745.2:c.1409A>C, NM_001300745.1:c.1409A>C, NM_001300744.3:c.1409A>C, NM_001300744.2:c.1409A>C, NM_001300744.1:c.1409A>C, NM_001318120.2:c.1409A>C, NM_001318120.1:c.1409A>C, NM_001191049.2:c.1394A>C, NM_001191049.1:c.1394A>C, NM_001318119.2:c.1409A>C, NM_001318119.1:c.1409A>C, NM_001400158.1:c.1409A>C, NM_001400160.1:c.1409A>C, NM_001400190.1:c.1409A>C, NM_001400166.1:c.1409A>C, NM_001400193.1:c.1409A>C, NM_001400191.1:c.1409A>C, NM_001400203.1:c.1409A>C, NM_001400206.1:c.1409A>C, NM_001400209.1:c.1409A>C, NM_001400154.1:c.1409A>C, NM_001400155.1:c.1409A>C, NM_001400156.1:c.1409A>C, NM_001400159.1:c.1409A>C, NM_001400157.1:c.1409A>C, NM_001400214.1:c.1394A>C, NM_001400161.1:c.1409A>C, NM_001400162.1:c.1409A>C, NM_001400165.1:c.1409A>C, NM_001400164.1:c.1409A>C, NM_001400167.1:c.1409A>C, NM_001400168.1:c.1409A>C, NM_001400188.1:c.1409A>C, NM_001400186.1:c.1409A>C, NM_001400184.1:c.1409A>C, NM_001400180.1:c.1409A>C, NM_001400194.1:c.1409A>C, NM_001400200.1:c.1409A>C, NM_001400198.1:c.1409A>C, NM_001400202.1:c.1409A>C, NM_001400197.1:c.1409A>C, NM_001400204.1:c.1409A>C, NM_001400205.1:c.1409A>C, NM_001400212.1:c.1394A>C, NM_001400208.1:c.1409A>C, NM_001400207.1:c.1409A>C, NM_001400211.1:c.1409A>C, NM_001400210.1:c.1409A>C, NM_001400224.1:c.935A>C, NM_001400216.1:c.1409A>C, NM_001400213.1:c.1409A>C, NM_001400215.1:c.1247A>C, NM_001400217.1:c.1409A>C, NM_001400218.1:c.1409A>C, NM_001400220.1:c.1409A>C, NM_001400219.1:c.1409A>C, NM_001400222.1:c.1409A>C, NM_001400221.1:c.1409A>C, NM_001400223.1:c.1409A>C, NM_014933.3:c.1409A>C, NP_057295.2:p.Glu470Ala, NP_001070675.1:p.Glu470Ala, NP_001070676.1:p.Glu470Ala, NP_001070674.1:p.Glu470Ala, NP_001287674.1:p.Glu470Ala, NP_001287673.1:p.Glu470Ala, NP_001305049.1:p.Glu470Ala, NP_001177978.1:p.Glu465Ala, NP_001305048.1:p.Glu470Ala, NP_001387087.1:p.Glu470Ala, NP_001387089.1:p.Glu470Ala, NP_001387119.1:p.Glu470Ala, NP_001387095.1:p.Glu470Ala, NP_001387122.1:p.Glu470Ala, NP_001387120.1:p.Glu470Ala, NP_001387132.1:p.Glu470Ala, NP_001387135.1:p.Glu470Ala, NP_001387138.1:p.Glu470Ala, NP_001387083.1:p.Glu470Ala, NP_001387084.1:p.Glu470Ala, NP_001387085.1:p.Glu470Ala, NP_001387088.1:p.Glu470Ala, NP_001387086.1:p.Glu470Ala, NP_001387143.1:p.Glu465Ala, NP_001387090.1:p.Glu470Ala, NP_001387091.1:p.Glu470Ala, NP_001387094.1:p.Glu470Ala, NP_001387093.1:p.Glu470Ala, NP_001387096.1:p.Glu470Ala, NP_001387097.1:p.Glu470Ala, NP_001387117.1:p.Glu470Ala, NP_001387115.1:p.Glu470Ala, NP_001387113.1:p.Glu470Ala, NP_001387109.1:p.Glu470Ala, NP_001387123.1:p.Glu470Ala, NP_001387129.1:p.Glu470Ala, NP_001387127.1:p.Glu470Ala, NP_001387131.1:p.Glu470Ala, NP_001387126.1:p.Glu470Ala, NP_001387133.1:p.Glu470Ala, NP_001387134.1:p.Glu470Ala, NP_001387141.1:p.Glu465Ala, NP_001387137.1:p.Glu470Ala, NP_001387136.1:p.Glu470Ala, NP_001387140.1:p.Glu470Ala, NP_001387139.1:p.Glu470Ala, NP_001387153.1:p.Glu312Ala, NP_001387145.1:p.Glu470Ala, NP_001387142.1:p.Glu470Ala, NP_001387144.1:p.Glu416Ala, NP_001387146.1:p.Glu470Ala, NP_001387147.1:p.Glu470Ala, NP_001387149.1:p.Glu470Ala, NP_001387148.1:p.Glu470Ala, NP_001387151.1:p.Glu470Ala, NP_001387150.1:p.Glu470Ala, NP_001387152.1:p.Glu470Ala

                                        20.

                                        rs1464216381 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:82875821 (GRCh38)
                                          4:83796974 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:82875820:G:A
                                          Gene:
                                          SEC31A (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.82875821G>A, NC_000004.11:g.83796974G>A, NG_029569.3:g.29751C>T, NM_016211.5:c.404C>T, NM_016211.4:c.404C>T, NM_016211.3:c.404C>T, NM_001077207.4:c.404C>T, NM_001077207.3:c.404C>T, NM_001077207.2:c.404C>T, NM_001077208.4:c.404C>T, NM_001077208.3:c.404C>T, NM_001077208.2:c.404C>T, NM_001077206.4:c.404C>T, NM_001077206.3:c.404C>T, NM_001077206.2:c.404C>T, NM_001300745.3:c.404C>T, NM_001300745.2:c.404C>T, NM_001300745.1:c.404C>T, NM_001300744.3:c.404C>T, NM_001300744.2:c.404C>T, NM_001300744.1:c.404C>T, NM_001318120.2:c.404C>T, NM_001318120.1:c.404C>T, NM_001191049.2:c.389C>T, NM_001191049.1:c.389C>T, NM_001318119.2:c.404C>T, NM_001318119.1:c.404C>T, NM_001400158.1:c.404C>T, NM_001400160.1:c.404C>T, NM_001400190.1:c.404C>T, NM_001400166.1:c.404C>T, NM_001400193.1:c.404C>T, NM_001400191.1:c.404C>T, NM_001400203.1:c.404C>T, NM_001400206.1:c.404C>T, NM_001400209.1:c.404C>T, NM_001400154.1:c.404C>T, NM_001400155.1:c.404C>T, NM_001400156.1:c.404C>T, NM_001400159.1:c.404C>T, NM_001400157.1:c.404C>T, NM_001400214.1:c.389C>T, NM_001400161.1:c.404C>T, NM_001400162.1:c.404C>T, NM_001400165.1:c.404C>T, NM_001400164.1:c.404C>T, NM_001400167.1:c.404C>T, NM_001400168.1:c.404C>T, NM_001400188.1:c.404C>T, NM_001400186.1:c.404C>T, NM_001400184.1:c.404C>T, NM_001400180.1:c.404C>T, NM_001400194.1:c.404C>T, NM_001400200.1:c.404C>T, NM_001400198.1:c.404C>T, NM_001400202.1:c.404C>T, NM_001400197.1:c.404C>T, NM_001400204.1:c.404C>T, NM_001400205.1:c.404C>T, NM_001400212.1:c.389C>T, NM_001400208.1:c.404C>T, NM_001400207.1:c.404C>T, NM_001400211.1:c.404C>T, NM_001400210.1:c.404C>T, NM_001400224.1:c.-71C>T, NM_001400216.1:c.404C>T, NM_001400213.1:c.404C>T, NM_001400215.1:c.242C>T, NM_001400217.1:c.404C>T, NM_001400218.1:c.404C>T, NM_001400220.1:c.404C>T, NM_001400219.1:c.404C>T, NM_001400222.1:c.404C>T, NM_001400221.1:c.404C>T, NM_001400223.1:c.404C>T, NM_014933.3:c.404C>T, NP_057295.2:p.Thr135Ile, NP_001070675.1:p.Thr135Ile, NP_001070676.1:p.Thr135Ile, NP_001070674.1:p.Thr135Ile, NP_001287674.1:p.Thr135Ile, NP_001287673.1:p.Thr135Ile, NP_001305049.1:p.Thr135Ile, NP_001177978.1:p.Thr130Ile, NP_001305048.1:p.Thr135Ile, NP_001387087.1:p.Thr135Ile, NP_001387089.1:p.Thr135Ile, NP_001387119.1:p.Thr135Ile, NP_001387095.1:p.Thr135Ile, NP_001387122.1:p.Thr135Ile, NP_001387120.1:p.Thr135Ile, NP_001387132.1:p.Thr135Ile, NP_001387135.1:p.Thr135Ile, NP_001387138.1:p.Thr135Ile, NP_001387083.1:p.Thr135Ile, NP_001387084.1:p.Thr135Ile, NP_001387085.1:p.Thr135Ile, NP_001387088.1:p.Thr135Ile, NP_001387086.1:p.Thr135Ile, NP_001387143.1:p.Thr130Ile, NP_001387090.1:p.Thr135Ile, NP_001387091.1:p.Thr135Ile, NP_001387094.1:p.Thr135Ile, NP_001387093.1:p.Thr135Ile, NP_001387096.1:p.Thr135Ile, NP_001387097.1:p.Thr135Ile, NP_001387117.1:p.Thr135Ile, NP_001387115.1:p.Thr135Ile, NP_001387113.1:p.Thr135Ile, NP_001387109.1:p.Thr135Ile, NP_001387123.1:p.Thr135Ile, NP_001387129.1:p.Thr135Ile, NP_001387127.1:p.Thr135Ile, NP_001387131.1:p.Thr135Ile, NP_001387126.1:p.Thr135Ile, NP_001387133.1:p.Thr135Ile, NP_001387134.1:p.Thr135Ile, NP_001387141.1:p.Thr130Ile, NP_001387137.1:p.Thr135Ile, NP_001387136.1:p.Thr135Ile, NP_001387140.1:p.Thr135Ile, NP_001387139.1:p.Thr135Ile, NP_001387145.1:p.Thr135Ile, NP_001387142.1:p.Thr135Ile, NP_001387144.1:p.Thr81Ile, NP_001387146.1:p.Thr135Ile, NP_001387147.1:p.Thr135Ile, NP_001387149.1:p.Thr135Ile, NP_001387148.1:p.Thr135Ile, NP_001387151.1:p.Thr135Ile, NP_001387150.1:p.Thr135Ile, NP_001387152.1:p.Thr135Ile

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