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Items: 1 to 20 of 870

1.

rs1490726666 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:121299887 (GRCh38)
    9:124062165 (GRCh37)
    Canonical SPDI:
    NC_000009.12:121299886:C:T
    Gene:
    GSN (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
    HGVS:

    2.

    rs1490724180 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      9:121313986 (GRCh38)
      9:124076264 (GRCh37)
      Canonical SPDI:
      NC_000009.12:121313985:A:G
      Gene:
      GSN (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000009.12:g.121313986A>G, NC_000009.11:g.124076264A>G, NG_012872.2:g.117905A>G, NM_000177.5:c.869A>G, NM_000177.4:c.869A>G, NM_198252.3:c.716A>G, NM_198252.2:c.716A>G, NM_001353059.2:c.716A>G, NM_001353059.1:c.716A>G, NM_001353066.2:c.749A>G, NM_001353066.1:c.749A>G, NM_001353073.2:c.749A>G, NM_001353073.1:c.749A>G, NM_001353071.2:c.749A>G, NM_001353071.1:c.749A>G, NM_001353061.2:c.716A>G, NM_001353061.1:c.716A>G, NM_001353058.2:c.716A>G, NM_001353058.1:c.716A>G, NM_001353072.2:c.749A>G, NM_001353072.1:c.749A>G, NM_001353069.2:c.749A>G, NM_001353069.1:c.749A>G, NM_001353068.2:c.749A>G, NM_001353068.1:c.749A>G, NM_001353074.2:c.749A>G, NM_001353074.1:c.749A>G, NM_001353065.2:c.749A>G, NM_001353065.1:c.749A>G, NM_001353064.2:c.749A>G, NM_001353064.1:c.749A>G, NM_001127663.2:c.824A>G, NM_001127663.1:c.824A>G, NM_001353076.2:c.788A>G, NM_001353076.1:c.788A>G, NM_001353056.2:c.716A>G, NM_001353056.1:c.716A>G, NM_001127664.2:c.716A>G, NM_001127664.1:c.716A>G, NM_001127665.2:c.716A>G, NM_001127665.1:c.716A>G, NM_001127666.2:c.749A>G, NM_001127666.1:c.749A>G, NM_001258030.2:c.740A>G, NM_001258030.1:c.740A>G, NM_001127667.2:c.749A>G, NM_001127667.1:c.749A>G, NM_001353070.2:c.749A>G, NM_001353070.1:c.749A>G, NM_001353060.2:c.716A>G, NM_001353060.1:c.716A>G, NM_001353055.2:c.716A>G, NM_001353055.1:c.716A>G, NM_001353057.2:c.716A>G, NM_001353057.1:c.716A>G, NM_001353067.2:c.749A>G, NM_001353067.1:c.749A>G, NM_001353063.2:c.749A>G, NM_001353063.1:c.749A>G, NM_001258029.2:c.767A>G, NM_001258029.1:c.767A>G, NM_001127662.2:c.716A>G, NM_001127662.1:c.716A>G, NM_001353078.2:c.62A>G, NM_001353078.1:c.62A>G, NM_001353053.1:c.716A>G, NM_001353054.1:c.716A>G, NM_001353062.1:c.716A>G, NM_001353075.1:c.749A>G, NM_001353077.1:c.749A>G, XM_011518594.2:c.242A>G, XM_011518594.1:c.242A>G, XM_017014645.2:c.779A>G, XM_017014645.1:c.779A>G, XM_011518585.2:c.806A>G, XM_011518585.1:c.806A>G, XM_005251944.2:c.749A>G, XM_005251944.1:c.749A>G, XM_047423269.1:c.749A>G, XM_047423273.1:c.716A>G, XM_047423267.1:c.749A>G, XM_047423268.1:c.749A>G, XM_047423272.1:c.716A>G, XM_047423265.1:c.863A>G, XM_047423270.1:c.749A>G, XM_047423266.1:c.779A>G, XM_047423271.1:c.749A>G, NP_000168.1:p.Glu290Gly, NP_937895.1:p.Glu239Gly, NP_001339988.1:p.Glu239Gly, NP_001339995.1:p.Glu250Gly, NP_001340002.1:p.Glu250Gly, NP_001340000.1:p.Glu250Gly, NP_001339990.1:p.Glu239Gly, NP_001339987.1:p.Glu239Gly, NP_001340001.1:p.Glu250Gly, NP_001339998.1:p.Glu250Gly, NP_001339997.1:p.Glu250Gly, NP_001340003.1:p.Glu250Gly, NP_001339994.1:p.Glu250Gly, NP_001339993.1:p.Glu250Gly, NP_001121135.2:p.Glu275Gly, NP_001340005.1:p.Glu263Gly, NP_001339985.1:p.Glu239Gly, NP_001121136.1:p.Glu239Gly, NP_001121137.1:p.Glu239Gly, NP_001121138.1:p.Glu250Gly, NP_001244959.1:p.Glu247Gly, NP_001121139.1:p.Glu250Gly, NP_001339999.1:p.Glu250Gly, NP_001339989.1:p.Glu239Gly, NP_001339984.1:p.Glu239Gly, NP_001339986.1:p.Glu239Gly, NP_001339996.1:p.Glu250Gly, NP_001339992.1:p.Glu250Gly, NP_001244958.1:p.Glu256Gly, NP_001121134.1:p.Glu239Gly, NP_001340007.1:p.Glu21Gly, NP_001339982.1:p.Glu239Gly, NP_001339983.1:p.Glu239Gly, NP_001339991.1:p.Glu239Gly, NP_001340004.1:p.Glu250Gly, NP_001340006.1:p.Glu250Gly, XP_011516896.1:p.Glu81Gly, XP_016870134.1:p.Glu260Gly, XP_011516887.1:p.Glu269Gly, XP_005252001.1:p.Glu250Gly, XP_047279225.1:p.Glu250Gly, XP_047279229.1:p.Glu239Gly, XP_047279223.1:p.Glu250Gly, XP_047279224.1:p.Glu250Gly, XP_047279228.1:p.Glu239Gly, XP_047279221.1:p.Glu288Gly, XP_047279226.1:p.Glu250Gly, XP_047279222.1:p.Glu260Gly, XP_047279227.1:p.Glu250Gly

      3.

      rs1490099144 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        9:121302007 (GRCh38)
        9:124064286 (GRCh37)
        Canonical SPDI:
        NC_000009.12:121302007:AA:AAA
        Gene:
        GSN (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAA=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.121302009dup, NC_000009.11:g.124064287dup, NG_012872.2:g.105928dup, NM_000177.5:c.191dup, NM_000177.4:c.191dup, NM_198252.3:c.38dup, NM_198252.2:c.38dup, NM_001353059.2:c.38dup, NM_001353059.1:c.38dup, NM_001353066.2:c.71dup, NM_001353066.1:c.71dup, NM_001353073.2:c.71dup, NM_001353073.1:c.71dup, NM_001353071.2:c.71dup, NM_001353071.1:c.71dup, NM_001353061.2:c.38dup, NM_001353061.1:c.38dup, NM_001353058.2:c.38dup, NM_001353058.1:c.38dup, NM_001353072.2:c.71dup, NM_001353072.1:c.71dup, NM_001353069.2:c.71dup, NM_001353069.1:c.71dup, NM_001353068.2:c.71dup, NM_001353068.1:c.71dup, NM_001353074.2:c.71dup, NM_001353074.1:c.71dup, NM_001353065.2:c.71dup, NM_001353065.1:c.71dup, NM_001353064.2:c.71dup, NM_001353064.1:c.71dup, NM_001127663.2:c.146dup, NM_001127663.1:c.146dup, NM_001353076.2:c.110dup, NM_001353076.1:c.110dup, NM_001353056.2:c.38dup, NM_001353056.1:c.38dup, NM_001127664.2:c.38dup, NM_001127664.1:c.38dup, NM_001127665.2:c.38dup, NM_001127665.1:c.38dup, NM_001127666.2:c.71dup, NM_001127666.1:c.71dup, NM_001258030.2:c.62dup, NM_001258030.1:c.62dup, NM_001127667.2:c.71dup, NM_001127667.1:c.71dup, NM_001353070.2:c.71dup, NM_001353070.1:c.71dup, NM_001353060.2:c.38dup, NM_001353060.1:c.38dup, NM_001353055.2:c.38dup, NM_001353055.1:c.38dup, NM_001353057.2:c.38dup, NM_001353057.1:c.38dup, NM_001353067.2:c.71dup, NM_001353067.1:c.71dup, NM_001353063.2:c.71dup, NM_001353063.1:c.71dup, NM_001258029.2:c.89dup, NM_001258029.1:c.89dup, NM_001127662.2:c.38dup, NM_001127662.1:c.38dup, NM_001353053.1:c.38dup, NM_001353054.1:c.38dup, NM_001353062.1:c.38dup, NM_001353075.1:c.71dup, NM_001353077.1:c.71dup, XM_017014645.2:c.101dup, XM_017014645.1:c.101dup, XM_011518585.2:c.128dup, XM_011518585.1:c.128dup, XM_005251944.2:c.71dup, XM_005251944.1:c.71dup, XM_047423269.1:c.71dup, XM_047423273.1:c.38dup, XM_047423267.1:c.71dup, XM_047423268.1:c.71dup, XM_047423272.1:c.38dup, XM_047423265.1:c.185dup, XM_047423270.1:c.71dup, XM_047423266.1:c.101dup, XM_047423271.1:c.71dup, NP_000168.1:p.Glu65fs, NP_937895.1:p.Glu14fs, NP_001339988.1:p.Glu14fs, NP_001339995.1:p.Glu25fs, NP_001340002.1:p.Glu25fs, NP_001340000.1:p.Glu25fs, NP_001339990.1:p.Glu14fs, NP_001339987.1:p.Glu14fs, NP_001340001.1:p.Glu25fs, NP_001339998.1:p.Glu25fs, NP_001339997.1:p.Glu25fs, NP_001340003.1:p.Glu25fs, NP_001339994.1:p.Glu25fs, NP_001339993.1:p.Glu25fs, NP_001121135.2:p.Glu50fs, NP_001340005.1:p.Glu38fs, NP_001339985.1:p.Glu14fs, NP_001121136.1:p.Glu14fs, NP_001121137.1:p.Glu14fs, NP_001121138.1:p.Glu25fs, NP_001244959.1:p.Glu22fs, NP_001121139.1:p.Glu25fs, NP_001339999.1:p.Glu25fs, NP_001339989.1:p.Glu14fs, NP_001339984.1:p.Glu14fs, NP_001339986.1:p.Glu14fs, NP_001339996.1:p.Glu25fs, NP_001339992.1:p.Glu25fs, NP_001244958.1:p.Glu31fs, NP_001121134.1:p.Glu14fs, NP_001339982.1:p.Glu14fs, NP_001339983.1:p.Glu14fs, NP_001339991.1:p.Glu14fs, NP_001340004.1:p.Glu25fs, NP_001340006.1:p.Glu25fs, XP_016870134.1:p.Glu35fs, XP_011516887.1:p.Glu44fs, XP_005252001.1:p.Glu25fs, XP_047279225.1:p.Glu25fs, XP_047279229.1:p.Glu14fs, XP_047279223.1:p.Glu25fs, XP_047279224.1:p.Glu25fs, XP_047279228.1:p.Glu14fs, XP_047279221.1:p.Glu63fs, XP_047279226.1:p.Glu25fs, XP_047279222.1:p.Glu35fs, XP_047279227.1:p.Glu25fs

        4.

        rs1488902911 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:121327345 (GRCh38)
          9:124089623 (GRCh37)
          Canonical SPDI:
          NC_000009.12:121327344:C:G,NC_000009.12:121327344:C:T
          Gene:
          GSN (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.121327345C>G, NC_000009.12:g.121327345C>T, NC_000009.11:g.124089623C>G, NC_000009.11:g.124089623C>T, NG_012872.2:g.131264C>G, NG_012872.2:g.131264C>T, NM_000177.5:c.1778C>G, NM_000177.5:c.1778C>T, NM_000177.4:c.1778C>G, NM_000177.4:c.1778C>T, NM_198252.3:c.1625C>G, NM_198252.3:c.1625C>T, NM_198252.2:c.1625C>G, NM_198252.2:c.1625C>T, NM_001353059.2:c.1625C>G, NM_001353059.2:c.1625C>T, NM_001353059.1:c.1625C>G, NM_001353059.1:c.1625C>T, NM_001353066.2:c.1658C>G, NM_001353066.2:c.1658C>T, NM_001353066.1:c.1658C>G, NM_001353066.1:c.1658C>T, NM_001353073.2:c.1658C>G, NM_001353073.2:c.1658C>T, NM_001353073.1:c.1658C>G, NM_001353073.1:c.1658C>T, NM_001353071.2:c.1658C>G, NM_001353071.2:c.1658C>T, NM_001353071.1:c.1658C>G, NM_001353071.1:c.1658C>T, NM_001353061.2:c.1625C>G, NM_001353061.2:c.1625C>T, NM_001353061.1:c.1625C>G, NM_001353061.1:c.1625C>T, NM_001353058.2:c.1625C>G, NM_001353058.2:c.1625C>T, NM_001353058.1:c.1625C>G, NM_001353058.1:c.1625C>T, NM_001353072.2:c.1658C>G, NM_001353072.2:c.1658C>T, NM_001353072.1:c.1658C>G, NM_001353072.1:c.1658C>T, NM_001353069.2:c.1658C>G, NM_001353069.2:c.1658C>T, NM_001353069.1:c.1658C>G, NM_001353069.1:c.1658C>T, NM_001353068.2:c.1658C>G, NM_001353068.2:c.1658C>T, NM_001353068.1:c.1658C>G, NM_001353068.1:c.1658C>T, NM_001353074.2:c.1658C>G, NM_001353074.2:c.1658C>T, NM_001353074.1:c.1658C>G, NM_001353074.1:c.1658C>T, NM_001353065.2:c.1658C>G, NM_001353065.2:c.1658C>T, NM_001353065.1:c.1658C>G, NM_001353065.1:c.1658C>T, NM_001353064.2:c.1658C>G, NM_001353064.2:c.1658C>T, NM_001353064.1:c.1658C>G, NM_001353064.1:c.1658C>T, NM_001127663.2:c.1733C>G, NM_001127663.2:c.1733C>T, NM_001127663.1:c.1733C>G, NM_001127663.1:c.1733C>T, NM_001353076.2:c.1697C>G, NM_001353076.2:c.1697C>T, NM_001353076.1:c.1697C>G, NM_001353076.1:c.1697C>T, NM_001353056.2:c.1625C>G, NM_001353056.2:c.1625C>T, NM_001353056.1:c.1625C>G, NM_001353056.1:c.1625C>T, NM_001127664.2:c.1625C>G, NM_001127664.2:c.1625C>T, NM_001127664.1:c.1625C>G, NM_001127664.1:c.1625C>T, NM_001127665.2:c.1625C>G, NM_001127665.2:c.1625C>T, NM_001127665.1:c.1625C>G, NM_001127665.1:c.1625C>T, NM_001127666.2:c.1658C>G, NM_001127666.2:c.1658C>T, NM_001127666.1:c.1658C>G, NM_001127666.1:c.1658C>T, NM_001258030.2:c.1649C>G, NM_001258030.2:c.1649C>T, NM_001258030.1:c.1649C>G, NM_001258030.1:c.1649C>T, NM_001127667.2:c.1658C>G, NM_001127667.2:c.1658C>T, NM_001127667.1:c.1658C>G, NM_001127667.1:c.1658C>T, NM_001353070.2:c.1658C>G, NM_001353070.2:c.1658C>T, NM_001353070.1:c.1658C>G, NM_001353070.1:c.1658C>T, NM_001353060.2:c.1625C>G, NM_001353060.2:c.1625C>T, NM_001353060.1:c.1625C>G, NM_001353060.1:c.1625C>T, NM_001353055.2:c.1625C>G, NM_001353055.2:c.1625C>T, NM_001353055.1:c.1625C>G, NM_001353055.1:c.1625C>T, NM_001353057.2:c.1625C>G, NM_001353057.2:c.1625C>T, NM_001353057.1:c.1625C>G, NM_001353057.1:c.1625C>T, NM_001353067.2:c.1658C>G, NM_001353067.2:c.1658C>T, NM_001353067.1:c.1658C>G, NM_001353067.1:c.1658C>T, NM_001353063.2:c.1658C>G, NM_001353063.2:c.1658C>T, NM_001353063.1:c.1658C>G, NM_001353063.1:c.1658C>T, NM_001258029.2:c.1676C>G, NM_001258029.2:c.1676C>T, NM_001258029.1:c.1676C>G, NM_001258029.1:c.1676C>T, NM_001127662.2:c.1625C>G, NM_001127662.2:c.1625C>T, NM_001127662.1:c.1625C>G, NM_001127662.1:c.1625C>T, NM_001353078.2:c.971C>G, NM_001353078.2:c.971C>T, NM_001353078.1:c.971C>G, NM_001353078.1:c.971C>T, NM_001353053.1:c.1625C>G, NM_001353053.1:c.1625C>T, NM_001353054.1:c.1625C>G, NM_001353054.1:c.1625C>T, NM_001353062.1:c.1625C>G, NM_001353062.1:c.1625C>T, NM_001353075.1:c.1658C>G, NM_001353075.1:c.1658C>T, NM_001353077.1:c.1658C>G, NM_001353077.1:c.1658C>T, XM_011518594.2:c.1151C>G, XM_011518594.2:c.1151C>T, XM_011518594.1:c.1151C>G, XM_011518594.1:c.1151C>T, XM_017014645.2:c.1688C>G, XM_017014645.2:c.1688C>T, XM_017014645.1:c.1688C>G, XM_017014645.1:c.1688C>T, XM_011518585.2:c.1715C>G, XM_011518585.2:c.1715C>T, XM_011518585.1:c.1715C>G, XM_011518585.1:c.1715C>T, XM_005251944.2:c.1658C>G, XM_005251944.2:c.1658C>T, XM_005251944.1:c.1658C>G, XM_005251944.1:c.1658C>T, XM_047423269.1:c.1658C>G, XM_047423269.1:c.1658C>T, XM_047423273.1:c.1625C>G, XM_047423273.1:c.1625C>T, XM_047423267.1:c.1658C>G, XM_047423267.1:c.1658C>T, XM_047423268.1:c.1658C>G, XM_047423268.1:c.1658C>T, XM_047423272.1:c.1625C>G, XM_047423272.1:c.1625C>T, XM_047423265.1:c.1772C>G, XM_047423265.1:c.1772C>T, XM_047423270.1:c.1658C>G, XM_047423270.1:c.1658C>T, XM_047423266.1:c.1688C>G, XM_047423266.1:c.1688C>T, XM_047423271.1:c.1658C>G, XM_047423271.1:c.1658C>T, NP_000168.1:p.Ala593Gly, NP_000168.1:p.Ala593Val, NP_937895.1:p.Ala542Gly, NP_937895.1:p.Ala542Val, NP_001339988.1:p.Ala542Gly, NP_001339988.1:p.Ala542Val, NP_001339995.1:p.Ala553Gly, NP_001339995.1:p.Ala553Val, NP_001340002.1:p.Ala553Gly, NP_001340002.1:p.Ala553Val, NP_001340000.1:p.Ala553Gly, NP_001340000.1:p.Ala553Val, NP_001339990.1:p.Ala542Gly, NP_001339990.1:p.Ala542Val, NP_001339987.1:p.Ala542Gly, NP_001339987.1:p.Ala542Val, NP_001340001.1:p.Ala553Gly, NP_001340001.1:p.Ala553Val, NP_001339998.1:p.Ala553Gly, NP_001339998.1:p.Ala553Val, NP_001339997.1:p.Ala553Gly, NP_001339997.1:p.Ala553Val, NP_001340003.1:p.Ala553Gly, NP_001340003.1:p.Ala553Val, NP_001339994.1:p.Ala553Gly, NP_001339994.1:p.Ala553Val, NP_001339993.1:p.Ala553Gly, NP_001339993.1:p.Ala553Val, NP_001121135.2:p.Ala578Gly, NP_001121135.2:p.Ala578Val, NP_001340005.1:p.Ala566Gly, NP_001340005.1:p.Ala566Val, NP_001339985.1:p.Ala542Gly, NP_001339985.1:p.Ala542Val, NP_001121136.1:p.Ala542Gly, NP_001121136.1:p.Ala542Val, NP_001121137.1:p.Ala542Gly, NP_001121137.1:p.Ala542Val, NP_001121138.1:p.Ala553Gly, NP_001121138.1:p.Ala553Val, NP_001244959.1:p.Ala550Gly, NP_001244959.1:p.Ala550Val, NP_001121139.1:p.Ala553Gly, NP_001121139.1:p.Ala553Val, NP_001339999.1:p.Ala553Gly, NP_001339999.1:p.Ala553Val, NP_001339989.1:p.Ala542Gly, NP_001339989.1:p.Ala542Val, NP_001339984.1:p.Ala542Gly, NP_001339984.1:p.Ala542Val, NP_001339986.1:p.Ala542Gly, NP_001339986.1:p.Ala542Val, NP_001339996.1:p.Ala553Gly, NP_001339996.1:p.Ala553Val, NP_001339992.1:p.Ala553Gly, NP_001339992.1:p.Ala553Val, NP_001244958.1:p.Ala559Gly, NP_001244958.1:p.Ala559Val, NP_001121134.1:p.Ala542Gly, NP_001121134.1:p.Ala542Val, NP_001340007.1:p.Ala324Gly, NP_001340007.1:p.Ala324Val, NP_001339982.1:p.Ala542Gly, NP_001339982.1:p.Ala542Val, NP_001339983.1:p.Ala542Gly, NP_001339983.1:p.Ala542Val, NP_001339991.1:p.Ala542Gly, NP_001339991.1:p.Ala542Val, NP_001340004.1:p.Ala553Gly, NP_001340004.1:p.Ala553Val, NP_001340006.1:p.Ala553Gly, NP_001340006.1:p.Ala553Val, XP_011516896.1:p.Ala384Gly, XP_011516896.1:p.Ala384Val, XP_016870134.1:p.Ala563Gly, XP_016870134.1:p.Ala563Val, XP_011516887.1:p.Ala572Gly, XP_011516887.1:p.Ala572Val, XP_005252001.1:p.Ala553Gly, XP_005252001.1:p.Ala553Val, XP_047279225.1:p.Ala553Gly, XP_047279225.1:p.Ala553Val, XP_047279229.1:p.Ala542Gly, XP_047279229.1:p.Ala542Val, XP_047279223.1:p.Ala553Gly, XP_047279223.1:p.Ala553Val, XP_047279224.1:p.Ala553Gly, XP_047279224.1:p.Ala553Val, XP_047279228.1:p.Ala542Gly, XP_047279228.1:p.Ala542Val, XP_047279221.1:p.Ala591Gly, XP_047279221.1:p.Ala591Val, XP_047279226.1:p.Ala553Gly, XP_047279226.1:p.Ala553Val, XP_047279222.1:p.Ala563Gly, XP_047279222.1:p.Ala563Val, XP_047279227.1:p.Ala553Gly, XP_047279227.1:p.Ala553Val

          5.

          rs1487723595 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:121302051 (GRCh38)
            9:124064329 (GRCh37)
            Canonical SPDI:
            NC_000009.12:121302050:T:C
            Gene:
            GSN (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000009.12:g.121302051T>C, NC_000009.11:g.124064329T>C, NG_012872.2:g.105970T>C, NM_000177.5:c.233T>C, NM_000177.4:c.233T>C, NM_198252.3:c.80T>C, NM_198252.2:c.80T>C, NM_001353059.2:c.80T>C, NM_001353059.1:c.80T>C, NM_001353066.2:c.113T>C, NM_001353066.1:c.113T>C, NM_001353073.2:c.113T>C, NM_001353073.1:c.113T>C, NM_001353071.2:c.113T>C, NM_001353071.1:c.113T>C, NM_001353061.2:c.80T>C, NM_001353061.1:c.80T>C, NM_001353058.2:c.80T>C, NM_001353058.1:c.80T>C, NM_001353072.2:c.113T>C, NM_001353072.1:c.113T>C, NM_001353069.2:c.113T>C, NM_001353069.1:c.113T>C, NM_001353068.2:c.113T>C, NM_001353068.1:c.113T>C, NM_001353074.2:c.113T>C, NM_001353074.1:c.113T>C, NM_001353065.2:c.113T>C, NM_001353065.1:c.113T>C, NM_001353064.2:c.113T>C, NM_001353064.1:c.113T>C, NM_001127663.2:c.188T>C, NM_001127663.1:c.188T>C, NM_001353076.2:c.152T>C, NM_001353076.1:c.152T>C, NM_001353056.2:c.80T>C, NM_001353056.1:c.80T>C, NM_001127664.2:c.80T>C, NM_001127664.1:c.80T>C, NM_001127665.2:c.80T>C, NM_001127665.1:c.80T>C, NM_001127666.2:c.113T>C, NM_001127666.1:c.113T>C, NM_001258030.2:c.104T>C, NM_001258030.1:c.104T>C, NM_001127667.2:c.113T>C, NM_001127667.1:c.113T>C, NM_001353070.2:c.113T>C, NM_001353070.1:c.113T>C, NM_001353060.2:c.80T>C, NM_001353060.1:c.80T>C, NM_001353055.2:c.80T>C, NM_001353055.1:c.80T>C, NM_001353057.2:c.80T>C, NM_001353057.1:c.80T>C, NM_001353067.2:c.113T>C, NM_001353067.1:c.113T>C, NM_001353063.2:c.113T>C, NM_001353063.1:c.113T>C, NM_001258029.2:c.131T>C, NM_001258029.1:c.131T>C, NM_001127662.2:c.80T>C, NM_001127662.1:c.80T>C, NM_001353053.1:c.80T>C, NM_001353054.1:c.80T>C, NM_001353062.1:c.80T>C, NM_001353075.1:c.113T>C, NM_001353077.1:c.113T>C, XM_017014645.2:c.143T>C, XM_017014645.1:c.143T>C, XM_011518585.2:c.170T>C, XM_011518585.1:c.170T>C, XM_005251944.2:c.113T>C, XM_005251944.1:c.113T>C, XM_047423269.1:c.113T>C, XM_047423273.1:c.80T>C, XM_047423267.1:c.113T>C, XM_047423268.1:c.113T>C, XM_047423272.1:c.80T>C, XM_047423265.1:c.227T>C, XM_047423270.1:c.113T>C, XM_047423266.1:c.143T>C, XM_047423271.1:c.113T>C, NP_000168.1:p.Leu78Pro, NP_937895.1:p.Leu27Pro, NP_001339988.1:p.Leu27Pro, NP_001339995.1:p.Leu38Pro, NP_001340002.1:p.Leu38Pro, NP_001340000.1:p.Leu38Pro, NP_001339990.1:p.Leu27Pro, NP_001339987.1:p.Leu27Pro, NP_001340001.1:p.Leu38Pro, NP_001339998.1:p.Leu38Pro, NP_001339997.1:p.Leu38Pro, NP_001340003.1:p.Leu38Pro, NP_001339994.1:p.Leu38Pro, NP_001339993.1:p.Leu38Pro, NP_001121135.2:p.Leu63Pro, NP_001340005.1:p.Leu51Pro, NP_001339985.1:p.Leu27Pro, NP_001121136.1:p.Leu27Pro, NP_001121137.1:p.Leu27Pro, NP_001121138.1:p.Leu38Pro, NP_001244959.1:p.Leu35Pro, NP_001121139.1:p.Leu38Pro, NP_001339999.1:p.Leu38Pro, NP_001339989.1:p.Leu27Pro, NP_001339984.1:p.Leu27Pro, NP_001339986.1:p.Leu27Pro, NP_001339996.1:p.Leu38Pro, NP_001339992.1:p.Leu38Pro, NP_001244958.1:p.Leu44Pro, NP_001121134.1:p.Leu27Pro, NP_001339982.1:p.Leu27Pro, NP_001339983.1:p.Leu27Pro, NP_001339991.1:p.Leu27Pro, NP_001340004.1:p.Leu38Pro, NP_001340006.1:p.Leu38Pro, XP_016870134.1:p.Leu48Pro, XP_011516887.1:p.Leu57Pro, XP_005252001.1:p.Leu38Pro, XP_047279225.1:p.Leu38Pro, XP_047279229.1:p.Leu27Pro, XP_047279223.1:p.Leu38Pro, XP_047279224.1:p.Leu38Pro, XP_047279228.1:p.Leu27Pro, XP_047279221.1:p.Leu76Pro, XP_047279226.1:p.Leu38Pro, XP_047279222.1:p.Leu48Pro, XP_047279227.1:p.Leu38Pro

            6.

            rs1487454769 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:121302988 (GRCh38)
              9:124065266 (GRCh37)
              Canonical SPDI:
              NC_000009.12:121302987:G:A
              Gene:
              GSN (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000009.12:g.121302988G>A, NC_000009.11:g.124065266G>A, NG_012872.2:g.106907G>A, NM_000177.5:c.427G>A, NM_000177.4:c.427G>A, NM_198252.3:c.274G>A, NM_198252.2:c.274G>A, NM_001353059.2:c.274G>A, NM_001353059.1:c.274G>A, NM_001353066.2:c.307G>A, NM_001353066.1:c.307G>A, NM_001353073.2:c.307G>A, NM_001353073.1:c.307G>A, NM_001353071.2:c.307G>A, NM_001353071.1:c.307G>A, NM_001353061.2:c.274G>A, NM_001353061.1:c.274G>A, NM_001353058.2:c.274G>A, NM_001353058.1:c.274G>A, NM_001353072.2:c.307G>A, NM_001353072.1:c.307G>A, NM_001353069.2:c.307G>A, NM_001353069.1:c.307G>A, NM_001353068.2:c.307G>A, NM_001353068.1:c.307G>A, NM_001353074.2:c.307G>A, NM_001353074.1:c.307G>A, NM_001353065.2:c.307G>A, NM_001353065.1:c.307G>A, NM_001353064.2:c.307G>A, NM_001353064.1:c.307G>A, NM_001127663.2:c.382G>A, NM_001127663.1:c.382G>A, NM_001353076.2:c.346G>A, NM_001353076.1:c.346G>A, NM_001353056.2:c.274G>A, NM_001353056.1:c.274G>A, NM_001127664.2:c.274G>A, NM_001127664.1:c.274G>A, NM_001127665.2:c.274G>A, NM_001127665.1:c.274G>A, NM_001127666.2:c.307G>A, NM_001127666.1:c.307G>A, NM_001258030.2:c.298G>A, NM_001258030.1:c.298G>A, NM_001127667.2:c.307G>A, NM_001127667.1:c.307G>A, NM_001353070.2:c.307G>A, NM_001353070.1:c.307G>A, NM_001353060.2:c.274G>A, NM_001353060.1:c.274G>A, NM_001353055.2:c.274G>A, NM_001353055.1:c.274G>A, NM_001353057.2:c.274G>A, NM_001353057.1:c.274G>A, NM_001353067.2:c.307G>A, NM_001353067.1:c.307G>A, NM_001353063.2:c.307G>A, NM_001353063.1:c.307G>A, NM_001258029.2:c.325G>A, NM_001258029.1:c.325G>A, NM_001127662.2:c.274G>A, NM_001127662.1:c.274G>A, NM_001353078.2:c.-381G>A, NM_001353078.1:c.-381G>A, NM_001353053.1:c.274G>A, NM_001353054.1:c.274G>A, NM_001353062.1:c.274G>A, NM_001353075.1:c.307G>A, NM_001353077.1:c.307G>A, XM_017014645.2:c.337G>A, XM_017014645.1:c.337G>A, XM_011518585.2:c.364G>A, XM_011518585.1:c.364G>A, XM_005251944.2:c.307G>A, XM_005251944.1:c.307G>A, XM_047423269.1:c.307G>A, XM_047423273.1:c.274G>A, XM_047423267.1:c.307G>A, XM_047423268.1:c.307G>A, XM_047423272.1:c.274G>A, XM_047423265.1:c.421G>A, XM_047423270.1:c.307G>A, XM_047423266.1:c.337G>A, XM_047423271.1:c.307G>A, NP_000168.1:p.Ala143Thr, NP_937895.1:p.Ala92Thr, NP_001339988.1:p.Ala92Thr, NP_001339995.1:p.Ala103Thr, NP_001340002.1:p.Ala103Thr, NP_001340000.1:p.Ala103Thr, NP_001339990.1:p.Ala92Thr, NP_001339987.1:p.Ala92Thr, NP_001340001.1:p.Ala103Thr, NP_001339998.1:p.Ala103Thr, NP_001339997.1:p.Ala103Thr, NP_001340003.1:p.Ala103Thr, NP_001339994.1:p.Ala103Thr, NP_001339993.1:p.Ala103Thr, NP_001121135.2:p.Ala128Thr, NP_001340005.1:p.Ala116Thr, NP_001339985.1:p.Ala92Thr, NP_001121136.1:p.Ala92Thr, NP_001121137.1:p.Ala92Thr, NP_001121138.1:p.Ala103Thr, NP_001244959.1:p.Ala100Thr, NP_001121139.1:p.Ala103Thr, NP_001339999.1:p.Ala103Thr, NP_001339989.1:p.Ala92Thr, NP_001339984.1:p.Ala92Thr, NP_001339986.1:p.Ala92Thr, NP_001339996.1:p.Ala103Thr, NP_001339992.1:p.Ala103Thr, NP_001244958.1:p.Ala109Thr, NP_001121134.1:p.Ala92Thr, NP_001339982.1:p.Ala92Thr, NP_001339983.1:p.Ala92Thr, NP_001339991.1:p.Ala92Thr, NP_001340004.1:p.Ala103Thr, NP_001340006.1:p.Ala103Thr, XP_016870134.1:p.Ala113Thr, XP_011516887.1:p.Ala122Thr, XP_005252001.1:p.Ala103Thr, XP_047279225.1:p.Ala103Thr, XP_047279229.1:p.Ala92Thr, XP_047279223.1:p.Ala103Thr, XP_047279224.1:p.Ala103Thr, XP_047279228.1:p.Ala92Thr, XP_047279221.1:p.Ala141Thr, XP_047279226.1:p.Ala103Thr, XP_047279222.1:p.Ala113Thr, XP_047279227.1:p.Ala103Thr

              7.

              rs1486813242 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:121332478 (GRCh38)
                9:124094756 (GRCh37)
                Canonical SPDI:
                NC_000009.12:121332477:A:G
                Gene:
                GSN (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.0033/6 (Korea1K)
                HGVS:
                NC_000009.12:g.121332478A>G, NC_000009.11:g.124094756A>G, NG_012872.2:g.136397A>G, NM_000177.5:c.2224A>G, NM_000177.4:c.2224A>G, NM_198252.3:c.2071A>G, NM_198252.2:c.2071A>G, NM_001353059.2:c.2071A>G, NM_001353059.1:c.2071A>G, NM_001353066.2:c.2104A>G, NM_001353066.1:c.2104A>G, NM_001353073.2:c.2104A>G, NM_001353073.1:c.2104A>G, NM_001353071.2:c.2104A>G, NM_001353071.1:c.2104A>G, NM_001353061.2:c.2071A>G, NM_001353061.1:c.2071A>G, NM_001353058.2:c.2071A>G, NM_001353058.1:c.2071A>G, NM_001353072.2:c.2104A>G, NM_001353072.1:c.2104A>G, NM_001353069.2:c.2104A>G, NM_001353069.1:c.2104A>G, NM_001353068.2:c.2104A>G, NM_001353068.1:c.2104A>G, NM_001353074.2:c.2104A>G, NM_001353074.1:c.2104A>G, NM_001353065.2:c.2104A>G, NM_001353065.1:c.2104A>G, NM_001353064.2:c.2104A>G, NM_001353064.1:c.2104A>G, NM_001127663.2:c.2179A>G, NM_001127663.1:c.2179A>G, NM_001353076.2:c.2143A>G, NM_001353076.1:c.2143A>G, NM_001353056.2:c.2071A>G, NM_001353056.1:c.2071A>G, NM_001127664.2:c.2071A>G, NM_001127664.1:c.2071A>G, NM_001127665.2:c.2071A>G, NM_001127665.1:c.2071A>G, NM_001127666.2:c.2104A>G, NM_001127666.1:c.2104A>G, NM_001258030.2:c.2095A>G, NM_001258030.1:c.2095A>G, NM_001127667.2:c.2104A>G, NM_001127667.1:c.2104A>G, NM_001353070.2:c.2104A>G, NM_001353070.1:c.2104A>G, NM_001353060.2:c.2071A>G, NM_001353060.1:c.2071A>G, NM_001353055.2:c.2071A>G, NM_001353055.1:c.2071A>G, NM_001353057.2:c.2071A>G, NM_001353057.1:c.2071A>G, NM_001353067.2:c.2104A>G, NM_001353067.1:c.2104A>G, NM_001353063.2:c.2104A>G, NM_001353063.1:c.2104A>G, NM_001258029.2:c.2122A>G, NM_001258029.1:c.2122A>G, NM_001127662.2:c.2071A>G, NM_001127662.1:c.2071A>G, NM_001353078.2:c.1417A>G, NM_001353078.1:c.1417A>G, NM_001353053.1:c.2071A>G, NM_001353054.1:c.2071A>G, NM_001353062.1:c.2071A>G, NM_001353075.1:c.2104A>G, NM_001353077.1:c.2104A>G, XM_011518594.2:c.1597A>G, XM_011518594.1:c.1597A>G, XM_017014645.2:c.2134A>G, XM_017014645.1:c.2134A>G, XM_011518585.2:c.2161A>G, XM_011518585.1:c.2161A>G, XM_005251944.2:c.2104A>G, XM_005251944.1:c.2104A>G, XM_047423269.1:c.2104A>G, XM_047423273.1:c.2071A>G, XM_047423267.1:c.2104A>G, XM_047423268.1:c.2104A>G, XM_047423272.1:c.2071A>G, XM_047423265.1:c.2218A>G, XM_047423270.1:c.2104A>G, XM_047423266.1:c.2134A>G, XM_047423271.1:c.2104A>G, NP_000168.1:p.Thr742Ala, NP_937895.1:p.Thr691Ala, NP_001339988.1:p.Thr691Ala, NP_001339995.1:p.Thr702Ala, NP_001340002.1:p.Thr702Ala, NP_001340000.1:p.Thr702Ala, NP_001339990.1:p.Thr691Ala, NP_001339987.1:p.Thr691Ala, NP_001340001.1:p.Thr702Ala, NP_001339998.1:p.Thr702Ala, NP_001339997.1:p.Thr702Ala, NP_001340003.1:p.Thr702Ala, NP_001339994.1:p.Thr702Ala, NP_001339993.1:p.Thr702Ala, NP_001121135.2:p.Thr727Ala, NP_001340005.1:p.Thr715Ala, NP_001339985.1:p.Thr691Ala, NP_001121136.1:p.Thr691Ala, NP_001121137.1:p.Thr691Ala, NP_001121138.1:p.Thr702Ala, NP_001244959.1:p.Thr699Ala, NP_001121139.1:p.Thr702Ala, NP_001339999.1:p.Thr702Ala, NP_001339989.1:p.Thr691Ala, NP_001339984.1:p.Thr691Ala, NP_001339986.1:p.Thr691Ala, NP_001339996.1:p.Thr702Ala, NP_001339992.1:p.Thr702Ala, NP_001244958.1:p.Thr708Ala, NP_001121134.1:p.Thr691Ala, NP_001340007.1:p.Thr473Ala, NP_001339982.1:p.Thr691Ala, NP_001339983.1:p.Thr691Ala, NP_001339991.1:p.Thr691Ala, NP_001340004.1:p.Thr702Ala, NP_001340006.1:p.Thr702Ala, XP_011516896.1:p.Thr533Ala, XP_016870134.1:p.Thr712Ala, XP_011516887.1:p.Thr721Ala, XP_005252001.1:p.Thr702Ala, XP_047279225.1:p.Thr702Ala, XP_047279229.1:p.Thr691Ala, XP_047279223.1:p.Thr702Ala, XP_047279224.1:p.Thr702Ala, XP_047279228.1:p.Thr691Ala, XP_047279221.1:p.Thr740Ala, XP_047279226.1:p.Thr702Ala, XP_047279222.1:p.Thr712Ala, XP_047279227.1:p.Thr702Ala

                8.

                rs1486745626 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:121313944 (GRCh38)
                  9:124076222 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:121313943:C:T
                  Gene:
                  GSN (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000009.12:g.121313944C>T, NC_000009.11:g.124076222C>T, NG_012872.2:g.117863C>T, NM_000177.5:c.827C>T, NM_000177.4:c.827C>T, NM_198252.3:c.674C>T, NM_198252.2:c.674C>T, NM_001353059.2:c.674C>T, NM_001353059.1:c.674C>T, NM_001353066.2:c.707C>T, NM_001353066.1:c.707C>T, NM_001353073.2:c.707C>T, NM_001353073.1:c.707C>T, NM_001353071.2:c.707C>T, NM_001353071.1:c.707C>T, NM_001353061.2:c.674C>T, NM_001353061.1:c.674C>T, NM_001353058.2:c.674C>T, NM_001353058.1:c.674C>T, NM_001353072.2:c.707C>T, NM_001353072.1:c.707C>T, NM_001353069.2:c.707C>T, NM_001353069.1:c.707C>T, NM_001353068.2:c.707C>T, NM_001353068.1:c.707C>T, NM_001353074.2:c.707C>T, NM_001353074.1:c.707C>T, NM_001353065.2:c.707C>T, NM_001353065.1:c.707C>T, NM_001353064.2:c.707C>T, NM_001353064.1:c.707C>T, NM_001127663.2:c.782C>T, NM_001127663.1:c.782C>T, NM_001353076.2:c.746C>T, NM_001353076.1:c.746C>T, NM_001353056.2:c.674C>T, NM_001353056.1:c.674C>T, NM_001127664.2:c.674C>T, NM_001127664.1:c.674C>T, NM_001127665.2:c.674C>T, NM_001127665.1:c.674C>T, NM_001127666.2:c.707C>T, NM_001127666.1:c.707C>T, NM_001258030.2:c.698C>T, NM_001258030.1:c.698C>T, NM_001127667.2:c.707C>T, NM_001127667.1:c.707C>T, NM_001353070.2:c.707C>T, NM_001353070.1:c.707C>T, NM_001353060.2:c.674C>T, NM_001353060.1:c.674C>T, NM_001353055.2:c.674C>T, NM_001353055.1:c.674C>T, NM_001353057.2:c.674C>T, NM_001353057.1:c.674C>T, NM_001353067.2:c.707C>T, NM_001353067.1:c.707C>T, NM_001353063.2:c.707C>T, NM_001353063.1:c.707C>T, NM_001258029.2:c.725C>T, NM_001258029.1:c.725C>T, NM_001127662.2:c.674C>T, NM_001127662.1:c.674C>T, NM_001353078.2:c.20C>T, NM_001353078.1:c.20C>T, NM_001353053.1:c.674C>T, NM_001353054.1:c.674C>T, NM_001353062.1:c.674C>T, NM_001353075.1:c.707C>T, NM_001353077.1:c.707C>T, XM_011518594.2:c.200C>T, XM_011518594.1:c.200C>T, XM_017014645.2:c.737C>T, XM_017014645.1:c.737C>T, XM_011518585.2:c.764C>T, XM_011518585.1:c.764C>T, XM_005251944.2:c.707C>T, XM_005251944.1:c.707C>T, XM_047423269.1:c.707C>T, XM_047423273.1:c.674C>T, XM_047423267.1:c.707C>T, XM_047423268.1:c.707C>T, XM_047423272.1:c.674C>T, XM_047423265.1:c.821C>T, XM_047423270.1:c.707C>T, XM_047423266.1:c.737C>T, XM_047423271.1:c.707C>T, NP_000168.1:p.Pro276Leu, NP_937895.1:p.Pro225Leu, NP_001339988.1:p.Pro225Leu, NP_001339995.1:p.Pro236Leu, NP_001340002.1:p.Pro236Leu, NP_001340000.1:p.Pro236Leu, NP_001339990.1:p.Pro225Leu, NP_001339987.1:p.Pro225Leu, NP_001340001.1:p.Pro236Leu, NP_001339998.1:p.Pro236Leu, NP_001339997.1:p.Pro236Leu, NP_001340003.1:p.Pro236Leu, NP_001339994.1:p.Pro236Leu, NP_001339993.1:p.Pro236Leu, NP_001121135.2:p.Pro261Leu, NP_001340005.1:p.Pro249Leu, NP_001339985.1:p.Pro225Leu, NP_001121136.1:p.Pro225Leu, NP_001121137.1:p.Pro225Leu, NP_001121138.1:p.Pro236Leu, NP_001244959.1:p.Pro233Leu, NP_001121139.1:p.Pro236Leu, NP_001339999.1:p.Pro236Leu, NP_001339989.1:p.Pro225Leu, NP_001339984.1:p.Pro225Leu, NP_001339986.1:p.Pro225Leu, NP_001339996.1:p.Pro236Leu, NP_001339992.1:p.Pro236Leu, NP_001244958.1:p.Pro242Leu, NP_001121134.1:p.Pro225Leu, NP_001340007.1:p.Pro7Leu, NP_001339982.1:p.Pro225Leu, NP_001339983.1:p.Pro225Leu, NP_001339991.1:p.Pro225Leu, NP_001340004.1:p.Pro236Leu, NP_001340006.1:p.Pro236Leu, XP_011516896.1:p.Pro67Leu, XP_016870134.1:p.Pro246Leu, XP_011516887.1:p.Pro255Leu, XP_005252001.1:p.Pro236Leu, XP_047279225.1:p.Pro236Leu, XP_047279229.1:p.Pro225Leu, XP_047279223.1:p.Pro236Leu, XP_047279224.1:p.Pro236Leu, XP_047279228.1:p.Pro225Leu, XP_047279221.1:p.Pro274Leu, XP_047279226.1:p.Pro236Leu, XP_047279222.1:p.Pro246Leu, XP_047279227.1:p.Pro236Leu

                  9.

                  rs1484453942 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    9:121317151 (GRCh38)
                    9:124079429 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:121317150:G:C,NC_000009.12:121317150:G:T
                    Gene:
                    GSN (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000008/2 (GnomAD_exomes)
                    C=0.000684/2 (KOREAN)
                    HGVS:
                    NC_000009.12:g.121317151G>C, NC_000009.12:g.121317151G>T, NC_000009.11:g.124079429G>C, NC_000009.11:g.124079429G>T, NG_012872.2:g.121070G>C, NG_012872.2:g.121070G>T, NM_000177.5:c.972G>C, NM_000177.5:c.972G>T, NM_000177.4:c.972G>C, NM_000177.4:c.972G>T, NM_198252.3:c.819G>C, NM_198252.3:c.819G>T, NM_198252.2:c.819G>C, NM_198252.2:c.819G>T, NM_001353059.2:c.819G>C, NM_001353059.2:c.819G>T, NM_001353059.1:c.819G>C, NM_001353059.1:c.819G>T, NM_001353066.2:c.852G>C, NM_001353066.2:c.852G>T, NM_001353066.1:c.852G>C, NM_001353066.1:c.852G>T, NM_001353073.2:c.852G>C, NM_001353073.2:c.852G>T, NM_001353073.1:c.852G>C, NM_001353073.1:c.852G>T, NM_001353071.2:c.852G>C, NM_001353071.2:c.852G>T, NM_001353071.1:c.852G>C, NM_001353071.1:c.852G>T, NM_001353061.2:c.819G>C, NM_001353061.2:c.819G>T, NM_001353061.1:c.819G>C, NM_001353061.1:c.819G>T, NM_001353058.2:c.819G>C, NM_001353058.2:c.819G>T, NM_001353058.1:c.819G>C, NM_001353058.1:c.819G>T, NM_001353072.2:c.852G>C, NM_001353072.2:c.852G>T, NM_001353072.1:c.852G>C, NM_001353072.1:c.852G>T, NM_001353069.2:c.852G>C, NM_001353069.2:c.852G>T, NM_001353069.1:c.852G>C, NM_001353069.1:c.852G>T, NM_001353068.2:c.852G>C, NM_001353068.2:c.852G>T, NM_001353068.1:c.852G>C, NM_001353068.1:c.852G>T, NM_001353074.2:c.852G>C, NM_001353074.2:c.852G>T, NM_001353074.1:c.852G>C, NM_001353074.1:c.852G>T, NM_001353065.2:c.852G>C, NM_001353065.2:c.852G>T, NM_001353065.1:c.852G>C, NM_001353065.1:c.852G>T, NM_001353064.2:c.852G>C, NM_001353064.2:c.852G>T, NM_001353064.1:c.852G>C, NM_001353064.1:c.852G>T, NM_001127663.2:c.927G>C, NM_001127663.2:c.927G>T, NM_001127663.1:c.927G>C, NM_001127663.1:c.927G>T, NM_001353076.2:c.891G>C, NM_001353076.2:c.891G>T, NM_001353076.1:c.891G>C, NM_001353076.1:c.891G>T, NM_001353056.2:c.819G>C, NM_001353056.2:c.819G>T, NM_001353056.1:c.819G>C, NM_001353056.1:c.819G>T, NM_001127664.2:c.819G>C, NM_001127664.2:c.819G>T, NM_001127664.1:c.819G>C, NM_001127664.1:c.819G>T, NM_001127665.2:c.819G>C, NM_001127665.2:c.819G>T, NM_001127665.1:c.819G>C, NM_001127665.1:c.819G>T, NM_001127666.2:c.852G>C, NM_001127666.2:c.852G>T, NM_001127666.1:c.852G>C, NM_001127666.1:c.852G>T, NM_001258030.2:c.843G>C, NM_001258030.2:c.843G>T, NM_001258030.1:c.843G>C, NM_001258030.1:c.843G>T, NM_001127667.2:c.852G>C, NM_001127667.2:c.852G>T, NM_001127667.1:c.852G>C, NM_001127667.1:c.852G>T, NM_001353070.2:c.852G>C, NM_001353070.2:c.852G>T, NM_001353070.1:c.852G>C, NM_001353070.1:c.852G>T, NM_001353060.2:c.819G>C, NM_001353060.2:c.819G>T, NM_001353060.1:c.819G>C, NM_001353060.1:c.819G>T, NM_001353055.2:c.819G>C, NM_001353055.2:c.819G>T, NM_001353055.1:c.819G>C, NM_001353055.1:c.819G>T, NM_001353057.2:c.819G>C, NM_001353057.2:c.819G>T, NM_001353057.1:c.819G>C, NM_001353057.1:c.819G>T, NM_001353067.2:c.852G>C, NM_001353067.2:c.852G>T, NM_001353067.1:c.852G>C, NM_001353067.1:c.852G>T, NM_001353063.2:c.852G>C, NM_001353063.2:c.852G>T, NM_001353063.1:c.852G>C, NM_001353063.1:c.852G>T, NM_001258029.2:c.870G>C, NM_001258029.2:c.870G>T, NM_001258029.1:c.870G>C, NM_001258029.1:c.870G>T, NM_001127662.2:c.819G>C, NM_001127662.2:c.819G>T, NM_001127662.1:c.819G>C, NM_001127662.1:c.819G>T, NM_001353078.2:c.165G>C, NM_001353078.2:c.165G>T, NM_001353078.1:c.165G>C, NM_001353078.1:c.165G>T, NM_001353053.1:c.819G>C, NM_001353053.1:c.819G>T, NM_001353054.1:c.819G>C, NM_001353054.1:c.819G>T, NM_001353062.1:c.819G>C, NM_001353062.1:c.819G>T, NM_001353075.1:c.852G>C, NM_001353075.1:c.852G>T, NM_001353077.1:c.852G>C, NM_001353077.1:c.852G>T, XM_011518594.2:c.345G>C, XM_011518594.2:c.345G>T, XM_011518594.1:c.345G>C, XM_011518594.1:c.345G>T, XM_017014645.2:c.882G>C, XM_017014645.2:c.882G>T, XM_017014645.1:c.882G>C, XM_017014645.1:c.882G>T, XM_011518585.2:c.909G>C, XM_011518585.2:c.909G>T, XM_011518585.1:c.909G>C, XM_011518585.1:c.909G>T, XM_005251944.2:c.852G>C, XM_005251944.2:c.852G>T, XM_005251944.1:c.852G>C, XM_005251944.1:c.852G>T, XM_047423269.1:c.852G>C, XM_047423269.1:c.852G>T, XM_047423273.1:c.819G>C, XM_047423273.1:c.819G>T, XM_047423267.1:c.852G>C, XM_047423267.1:c.852G>T, XM_047423268.1:c.852G>C, XM_047423268.1:c.852G>T, XM_047423272.1:c.819G>C, XM_047423272.1:c.819G>T, XM_047423265.1:c.966G>C, XM_047423265.1:c.966G>T, XM_047423270.1:c.852G>C, XM_047423270.1:c.852G>T, XM_047423266.1:c.882G>C, XM_047423266.1:c.882G>T, XM_047423271.1:c.852G>C, XM_047423271.1:c.852G>T

                    10.

                    rs1483153444 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:121302147 (GRCh38)
                      9:124064425 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:121302146:A:G
                      Gene:
                      GSN (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,intron_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)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000009.12:g.121302147A>G, NC_000009.11:g.124064425A>G, NG_012872.2:g.106066A>G, NM_000177.5:c.329A>G, NM_000177.4:c.329A>G, NM_198252.3:c.176A>G, NM_198252.2:c.176A>G, NM_001353059.2:c.176A>G, NM_001353059.1:c.176A>G, NM_001353066.2:c.209A>G, NM_001353066.1:c.209A>G, NM_001353073.2:c.209A>G, NM_001353073.1:c.209A>G, NM_001353071.2:c.209A>G, NM_001353071.1:c.209A>G, NM_001353061.2:c.176A>G, NM_001353061.1:c.176A>G, NM_001353058.2:c.176A>G, NM_001353058.1:c.176A>G, NM_001353072.2:c.209A>G, NM_001353072.1:c.209A>G, NM_001353069.2:c.209A>G, NM_001353069.1:c.209A>G, NM_001353068.2:c.209A>G, NM_001353068.1:c.209A>G, NM_001353074.2:c.209A>G, NM_001353074.1:c.209A>G, NM_001353065.2:c.209A>G, NM_001353065.1:c.209A>G, NM_001353064.2:c.209A>G, NM_001353064.1:c.209A>G, NM_001127663.2:c.284A>G, NM_001127663.1:c.284A>G, NM_001353076.2:c.248A>G, NM_001353076.1:c.248A>G, NM_001353056.2:c.176A>G, NM_001353056.1:c.176A>G, NM_001127664.2:c.176A>G, NM_001127664.1:c.176A>G, NM_001127665.2:c.176A>G, NM_001127665.1:c.176A>G, NM_001127666.2:c.209A>G, NM_001127666.1:c.209A>G, NM_001258030.2:c.200A>G, NM_001258030.1:c.200A>G, NM_001127667.2:c.209A>G, NM_001127667.1:c.209A>G, NM_001353070.2:c.209A>G, NM_001353070.1:c.209A>G, NM_001353060.2:c.176A>G, NM_001353060.1:c.176A>G, NM_001353055.2:c.176A>G, NM_001353055.1:c.176A>G, NM_001353057.2:c.176A>G, NM_001353057.1:c.176A>G, NM_001353067.2:c.209A>G, NM_001353067.1:c.209A>G, NM_001353063.2:c.209A>G, NM_001353063.1:c.209A>G, NM_001258029.2:c.227A>G, NM_001258029.1:c.227A>G, NM_001127662.2:c.176A>G, NM_001127662.1:c.176A>G, NM_001353053.1:c.176A>G, NM_001353054.1:c.176A>G, NM_001353062.1:c.176A>G, NM_001353075.1:c.209A>G, NM_001353077.1:c.209A>G, XM_017014645.2:c.239A>G, XM_017014645.1:c.239A>G, XM_011518585.2:c.266A>G, XM_011518585.1:c.266A>G, XM_005251944.2:c.209A>G, XM_005251944.1:c.209A>G, XM_047423269.1:c.209A>G, XM_047423273.1:c.176A>G, XM_047423267.1:c.209A>G, XM_047423268.1:c.209A>G, XM_047423272.1:c.176A>G, XM_047423265.1:c.323A>G, XM_047423270.1:c.209A>G, XM_047423266.1:c.239A>G, XM_047423271.1:c.209A>G, NP_000168.1:p.Tyr110Cys, NP_937895.1:p.Tyr59Cys, NP_001339988.1:p.Tyr59Cys, NP_001339995.1:p.Tyr70Cys, NP_001340002.1:p.Tyr70Cys, NP_001340000.1:p.Tyr70Cys, NP_001339990.1:p.Tyr59Cys, NP_001339987.1:p.Tyr59Cys, NP_001340001.1:p.Tyr70Cys, NP_001339998.1:p.Tyr70Cys, NP_001339997.1:p.Tyr70Cys, NP_001340003.1:p.Tyr70Cys, NP_001339994.1:p.Tyr70Cys, NP_001339993.1:p.Tyr70Cys, NP_001121135.2:p.Tyr95Cys, NP_001340005.1:p.Tyr83Cys, NP_001339985.1:p.Tyr59Cys, NP_001121136.1:p.Tyr59Cys, NP_001121137.1:p.Tyr59Cys, NP_001121138.1:p.Tyr70Cys, NP_001244959.1:p.Tyr67Cys, NP_001121139.1:p.Tyr70Cys, NP_001339999.1:p.Tyr70Cys, NP_001339989.1:p.Tyr59Cys, NP_001339984.1:p.Tyr59Cys, NP_001339986.1:p.Tyr59Cys, NP_001339996.1:p.Tyr70Cys, NP_001339992.1:p.Tyr70Cys, NP_001244958.1:p.Tyr76Cys, NP_001121134.1:p.Tyr59Cys, NP_001339982.1:p.Tyr59Cys, NP_001339983.1:p.Tyr59Cys, NP_001339991.1:p.Tyr59Cys, NP_001340004.1:p.Tyr70Cys, NP_001340006.1:p.Tyr70Cys, XP_016870134.1:p.Tyr80Cys, XP_011516887.1:p.Tyr89Cys, XP_005252001.1:p.Tyr70Cys, XP_047279225.1:p.Tyr70Cys, XP_047279229.1:p.Tyr59Cys, XP_047279223.1:p.Tyr70Cys, XP_047279224.1:p.Tyr70Cys, XP_047279228.1:p.Tyr59Cys, XP_047279221.1:p.Tyr108Cys, XP_047279226.1:p.Tyr70Cys, XP_047279222.1:p.Tyr80Cys, XP_047279227.1:p.Tyr70Cys

                      11.

                      rs1482856276 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        9:121303027 (GRCh38)
                        9:124065305 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:121303026:A:C
                        Gene:
                        GSN (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.121303027A>C, NC_000009.11:g.124065305A>C, NG_012872.2:g.106946A>C, NM_000177.5:c.466A>C, NM_000177.4:c.466A>C, NM_198252.3:c.313A>C, NM_198252.2:c.313A>C, NM_001353059.2:c.313A>C, NM_001353059.1:c.313A>C, NM_001353066.2:c.346A>C, NM_001353066.1:c.346A>C, NM_001353073.2:c.346A>C, NM_001353073.1:c.346A>C, NM_001353071.2:c.346A>C, NM_001353071.1:c.346A>C, NM_001353061.2:c.313A>C, NM_001353061.1:c.313A>C, NM_001353058.2:c.313A>C, NM_001353058.1:c.313A>C, NM_001353072.2:c.346A>C, NM_001353072.1:c.346A>C, NM_001353069.2:c.346A>C, NM_001353069.1:c.346A>C, NM_001353068.2:c.346A>C, NM_001353068.1:c.346A>C, NM_001353074.2:c.346A>C, NM_001353074.1:c.346A>C, NM_001353065.2:c.346A>C, NM_001353065.1:c.346A>C, NM_001353064.2:c.346A>C, NM_001353064.1:c.346A>C, NM_001127663.2:c.421A>C, NM_001127663.1:c.421A>C, NM_001353076.2:c.385A>C, NM_001353076.1:c.385A>C, NM_001353056.2:c.313A>C, NM_001353056.1:c.313A>C, NM_001127664.2:c.313A>C, NM_001127664.1:c.313A>C, NM_001127665.2:c.313A>C, NM_001127665.1:c.313A>C, NM_001127666.2:c.346A>C, NM_001127666.1:c.346A>C, NM_001258030.2:c.337A>C, NM_001258030.1:c.337A>C, NM_001127667.2:c.346A>C, NM_001127667.1:c.346A>C, NM_001353070.2:c.346A>C, NM_001353070.1:c.346A>C, NM_001353060.2:c.313A>C, NM_001353060.1:c.313A>C, NM_001353055.2:c.313A>C, NM_001353055.1:c.313A>C, NM_001353057.2:c.313A>C, NM_001353057.1:c.313A>C, NM_001353067.2:c.346A>C, NM_001353067.1:c.346A>C, NM_001353063.2:c.346A>C, NM_001353063.1:c.346A>C, NM_001258029.2:c.364A>C, NM_001258029.1:c.364A>C, NM_001127662.2:c.313A>C, NM_001127662.1:c.313A>C, NM_001353078.2:c.-342A>C, NM_001353078.1:c.-342A>C, NM_001353053.1:c.313A>C, NM_001353054.1:c.313A>C, NM_001353062.1:c.313A>C, NM_001353075.1:c.346A>C, NM_001353077.1:c.346A>C, XM_017014645.2:c.376A>C, XM_017014645.1:c.376A>C, XM_011518585.2:c.403A>C, XM_011518585.1:c.403A>C, XM_005251944.2:c.346A>C, XM_005251944.1:c.346A>C, XM_047423269.1:c.346A>C, XM_047423273.1:c.313A>C, XM_047423267.1:c.346A>C, XM_047423268.1:c.346A>C, XM_047423272.1:c.313A>C, XM_047423265.1:c.460A>C, XM_047423270.1:c.346A>C, XM_047423266.1:c.376A>C, XM_047423271.1:c.346A>C, NP_000168.1:p.Thr156Pro, NP_937895.1:p.Thr105Pro, NP_001339988.1:p.Thr105Pro, NP_001339995.1:p.Thr116Pro, NP_001340002.1:p.Thr116Pro, NP_001340000.1:p.Thr116Pro, NP_001339990.1:p.Thr105Pro, NP_001339987.1:p.Thr105Pro, NP_001340001.1:p.Thr116Pro, NP_001339998.1:p.Thr116Pro, NP_001339997.1:p.Thr116Pro, NP_001340003.1:p.Thr116Pro, NP_001339994.1:p.Thr116Pro, NP_001339993.1:p.Thr116Pro, NP_001121135.2:p.Thr141Pro, NP_001340005.1:p.Thr129Pro, NP_001339985.1:p.Thr105Pro, NP_001121136.1:p.Thr105Pro, NP_001121137.1:p.Thr105Pro, NP_001121138.1:p.Thr116Pro, NP_001244959.1:p.Thr113Pro, NP_001121139.1:p.Thr116Pro, NP_001339999.1:p.Thr116Pro, NP_001339989.1:p.Thr105Pro, NP_001339984.1:p.Thr105Pro, NP_001339986.1:p.Thr105Pro, NP_001339996.1:p.Thr116Pro, NP_001339992.1:p.Thr116Pro, NP_001244958.1:p.Thr122Pro, NP_001121134.1:p.Thr105Pro, NP_001339982.1:p.Thr105Pro, NP_001339983.1:p.Thr105Pro, NP_001339991.1:p.Thr105Pro, NP_001340004.1:p.Thr116Pro, NP_001340006.1:p.Thr116Pro, XP_016870134.1:p.Thr126Pro, XP_011516887.1:p.Thr135Pro, XP_005252001.1:p.Thr116Pro, XP_047279225.1:p.Thr116Pro, XP_047279229.1:p.Thr105Pro, XP_047279223.1:p.Thr116Pro, XP_047279224.1:p.Thr116Pro, XP_047279228.1:p.Thr105Pro, XP_047279221.1:p.Thr154Pro, XP_047279226.1:p.Thr116Pro, XP_047279222.1:p.Thr126Pro, XP_047279227.1:p.Thr116Pro

                        12.

                        rs1482330536 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          9:121329313 (GRCh38)
                          9:124091591 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:121329312:C:G
                          Gene:
                          GSN (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000009.12:g.121329313C>G, NC_000009.11:g.124091591C>G, NG_012872.2:g.133232C>G, NM_000177.5:c.2116C>G, NM_000177.4:c.2116C>G, NM_198252.3:c.1963C>G, NM_198252.2:c.1963C>G, NM_001353059.2:c.1963C>G, NM_001353059.1:c.1963C>G, NM_001353066.2:c.1996C>G, NM_001353066.1:c.1996C>G, NM_001353073.2:c.1996C>G, NM_001353073.1:c.1996C>G, NM_001353071.2:c.1996C>G, NM_001353071.1:c.1996C>G, NM_001353061.2:c.1963C>G, NM_001353061.1:c.1963C>G, NM_001353058.2:c.1963C>G, NM_001353058.1:c.1963C>G, NM_001353072.2:c.1996C>G, NM_001353072.1:c.1996C>G, NM_001353069.2:c.1996C>G, NM_001353069.1:c.1996C>G, NM_001353068.2:c.1996C>G, NM_001353068.1:c.1996C>G, NM_001353074.2:c.1996C>G, NM_001353074.1:c.1996C>G, NM_001353065.2:c.1996C>G, NM_001353065.1:c.1996C>G, NM_001353064.2:c.1996C>G, NM_001353064.1:c.1996C>G, NM_001127663.2:c.2071C>G, NM_001127663.1:c.2071C>G, NM_001353076.2:c.2035C>G, NM_001353076.1:c.2035C>G, NM_001353056.2:c.1963C>G, NM_001353056.1:c.1963C>G, NM_001127664.2:c.1963C>G, NM_001127664.1:c.1963C>G, NM_001127665.2:c.1963C>G, NM_001127665.1:c.1963C>G, NM_001127666.2:c.1996C>G, NM_001127666.1:c.1996C>G, NM_001258030.2:c.1987C>G, NM_001258030.1:c.1987C>G, NM_001127667.2:c.1996C>G, NM_001127667.1:c.1996C>G, NM_001353070.2:c.1996C>G, NM_001353070.1:c.1996C>G, NM_001353060.2:c.1963C>G, NM_001353060.1:c.1963C>G, NM_001353055.2:c.1963C>G, NM_001353055.1:c.1963C>G, NM_001353057.2:c.1963C>G, NM_001353057.1:c.1963C>G, NM_001353067.2:c.1996C>G, NM_001353067.1:c.1996C>G, NM_001353063.2:c.1996C>G, NM_001353063.1:c.1996C>G, NM_001258029.2:c.2014C>G, NM_001258029.1:c.2014C>G, NM_001127662.2:c.1963C>G, NM_001127662.1:c.1963C>G, NM_001353078.2:c.1309C>G, NM_001353078.1:c.1309C>G, NM_001353053.1:c.1963C>G, NM_001353054.1:c.1963C>G, NM_001353062.1:c.1963C>G, NM_001353075.1:c.1996C>G, NM_001353077.1:c.1996C>G, XM_011518594.2:c.1489C>G, XM_011518594.1:c.1489C>G, XM_017014645.2:c.2026C>G, XM_017014645.1:c.2026C>G, XM_011518585.2:c.2053C>G, XM_011518585.1:c.2053C>G, XM_005251944.2:c.1996C>G, XM_005251944.1:c.1996C>G, XM_047423269.1:c.1996C>G, XM_047423273.1:c.1963C>G, XM_047423267.1:c.1996C>G, XM_047423268.1:c.1996C>G, XM_047423272.1:c.1963C>G, XM_047423265.1:c.2110C>G, XM_047423270.1:c.1996C>G, XM_047423266.1:c.2026C>G, XM_047423271.1:c.1996C>G, NP_000168.1:p.Gln706Glu, NP_937895.1:p.Gln655Glu, NP_001339988.1:p.Gln655Glu, NP_001339995.1:p.Gln666Glu, NP_001340002.1:p.Gln666Glu, NP_001340000.1:p.Gln666Glu, NP_001339990.1:p.Gln655Glu, NP_001339987.1:p.Gln655Glu, NP_001340001.1:p.Gln666Glu, NP_001339998.1:p.Gln666Glu, NP_001339997.1:p.Gln666Glu, NP_001340003.1:p.Gln666Glu, NP_001339994.1:p.Gln666Glu, NP_001339993.1:p.Gln666Glu, NP_001121135.2:p.Gln691Glu, NP_001340005.1:p.Gln679Glu, NP_001339985.1:p.Gln655Glu, NP_001121136.1:p.Gln655Glu, NP_001121137.1:p.Gln655Glu, NP_001121138.1:p.Gln666Glu, NP_001244959.1:p.Gln663Glu, NP_001121139.1:p.Gln666Glu, NP_001339999.1:p.Gln666Glu, NP_001339989.1:p.Gln655Glu, NP_001339984.1:p.Gln655Glu, NP_001339986.1:p.Gln655Glu, NP_001339996.1:p.Gln666Glu, NP_001339992.1:p.Gln666Glu, NP_001244958.1:p.Gln672Glu, NP_001121134.1:p.Gln655Glu, NP_001340007.1:p.Gln437Glu, NP_001339982.1:p.Gln655Glu, NP_001339983.1:p.Gln655Glu, NP_001339991.1:p.Gln655Glu, NP_001340004.1:p.Gln666Glu, NP_001340006.1:p.Gln666Glu, XP_011516896.1:p.Gln497Glu, XP_016870134.1:p.Gln676Glu, XP_011516887.1:p.Gln685Glu, XP_005252001.1:p.Gln666Glu, XP_047279225.1:p.Gln666Glu, XP_047279229.1:p.Gln655Glu, XP_047279223.1:p.Gln666Glu, XP_047279224.1:p.Gln666Glu, XP_047279228.1:p.Gln655Glu, XP_047279221.1:p.Gln704Glu, XP_047279226.1:p.Gln666Glu, XP_047279222.1:p.Gln676Glu, XP_047279227.1:p.Gln666Glu

                          13.

                          rs1480030785 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:121318748 (GRCh38)
                            9:124081026 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:121318747:C:T
                            Gene:
                            GSN (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000009.12:g.121318748C>T, NC_000009.11:g.124081026C>T, NG_012872.2:g.122667C>T, NM_000177.5:c.1212C>T, NM_000177.4:c.1212C>T, NM_198252.3:c.1059C>T, NM_198252.2:c.1059C>T, NM_001353059.2:c.1059C>T, NM_001353059.1:c.1059C>T, NM_001353066.2:c.1092C>T, NM_001353066.1:c.1092C>T, NM_001353073.2:c.1092C>T, NM_001353073.1:c.1092C>T, NM_001353071.2:c.1092C>T, NM_001353071.1:c.1092C>T, NM_001353061.2:c.1059C>T, NM_001353061.1:c.1059C>T, NM_001353058.2:c.1059C>T, NM_001353058.1:c.1059C>T, NM_001353072.2:c.1092C>T, NM_001353072.1:c.1092C>T, NM_001353069.2:c.1092C>T, NM_001353069.1:c.1092C>T, NM_001353068.2:c.1092C>T, NM_001353068.1:c.1092C>T, NM_001353074.2:c.1092C>T, NM_001353074.1:c.1092C>T, NM_001353065.2:c.1092C>T, NM_001353065.1:c.1092C>T, NM_001353064.2:c.1092C>T, NM_001353064.1:c.1092C>T, NM_001127663.2:c.1167C>T, NM_001127663.1:c.1167C>T, NM_001353076.2:c.1131C>T, NM_001353076.1:c.1131C>T, NM_001353056.2:c.1059C>T, NM_001353056.1:c.1059C>T, NM_001127664.2:c.1059C>T, NM_001127664.1:c.1059C>T, NM_001127665.2:c.1059C>T, NM_001127665.1:c.1059C>T, NM_001127666.2:c.1092C>T, NM_001127666.1:c.1092C>T, NM_001258030.2:c.1083C>T, NM_001258030.1:c.1083C>T, NM_001127667.2:c.1092C>T, NM_001127667.1:c.1092C>T, NM_001353070.2:c.1092C>T, NM_001353070.1:c.1092C>T, NM_001353060.2:c.1059C>T, NM_001353060.1:c.1059C>T, NM_001353055.2:c.1059C>T, NM_001353055.1:c.1059C>T, NM_001353057.2:c.1059C>T, NM_001353057.1:c.1059C>T, NM_001353067.2:c.1092C>T, NM_001353067.1:c.1092C>T, NM_001353063.2:c.1092C>T, NM_001353063.1:c.1092C>T, NM_001258029.2:c.1110C>T, NM_001258029.1:c.1110C>T, NM_001127662.2:c.1059C>T, NM_001127662.1:c.1059C>T, NM_001353078.2:c.405C>T, NM_001353078.1:c.405C>T, NM_001353053.1:c.1059C>T, NM_001353054.1:c.1059C>T, NM_001353062.1:c.1059C>T, NM_001353075.1:c.1092C>T, NM_001353077.1:c.1092C>T, XM_011518594.2:c.585C>T, XM_011518594.1:c.585C>T, XM_017014645.2:c.1122C>T, XM_017014645.1:c.1122C>T, XM_011518585.2:c.1149C>T, XM_011518585.1:c.1149C>T, XM_005251944.2:c.1092C>T, XM_005251944.1:c.1092C>T, XM_047423269.1:c.1092C>T, XM_047423273.1:c.1059C>T, XM_047423267.1:c.1092C>T, XM_047423268.1:c.1092C>T, XM_047423272.1:c.1059C>T, XM_047423265.1:c.1206C>T, XM_047423270.1:c.1092C>T, XM_047423266.1:c.1122C>T, XM_047423271.1:c.1092C>T

                            14.

                            rs1479845895 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:121313995 (GRCh38)
                              9:124076273 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:121313994:C:T
                              Gene:
                              GSN (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000011/3 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000009.12:g.121313995C>T, NC_000009.11:g.124076273C>T, NG_012872.2:g.117914C>T, NM_000177.5:c.878C>T, NM_000177.4:c.878C>T, NM_198252.3:c.725C>T, NM_198252.2:c.725C>T, NM_001353059.2:c.725C>T, NM_001353059.1:c.725C>T, NM_001353066.2:c.758C>T, NM_001353066.1:c.758C>T, NM_001353073.2:c.758C>T, NM_001353073.1:c.758C>T, NM_001353071.2:c.758C>T, NM_001353071.1:c.758C>T, NM_001353061.2:c.725C>T, NM_001353061.1:c.725C>T, NM_001353058.2:c.725C>T, NM_001353058.1:c.725C>T, NM_001353072.2:c.758C>T, NM_001353072.1:c.758C>T, NM_001353069.2:c.758C>T, NM_001353069.1:c.758C>T, NM_001353068.2:c.758C>T, NM_001353068.1:c.758C>T, NM_001353074.2:c.758C>T, NM_001353074.1:c.758C>T, NM_001353065.2:c.758C>T, NM_001353065.1:c.758C>T, NM_001353064.2:c.758C>T, NM_001353064.1:c.758C>T, NM_001127663.2:c.833C>T, NM_001127663.1:c.833C>T, NM_001353076.2:c.797C>T, NM_001353076.1:c.797C>T, NM_001353056.2:c.725C>T, NM_001353056.1:c.725C>T, NM_001127664.2:c.725C>T, NM_001127664.1:c.725C>T, NM_001127665.2:c.725C>T, NM_001127665.1:c.725C>T, NM_001127666.2:c.758C>T, NM_001127666.1:c.758C>T, NM_001258030.2:c.749C>T, NM_001258030.1:c.749C>T, NM_001127667.2:c.758C>T, NM_001127667.1:c.758C>T, NM_001353070.2:c.758C>T, NM_001353070.1:c.758C>T, NM_001353060.2:c.725C>T, NM_001353060.1:c.725C>T, NM_001353055.2:c.725C>T, NM_001353055.1:c.725C>T, NM_001353057.2:c.725C>T, NM_001353057.1:c.725C>T, NM_001353067.2:c.758C>T, NM_001353067.1:c.758C>T, NM_001353063.2:c.758C>T, NM_001353063.1:c.758C>T, NM_001258029.2:c.776C>T, NM_001258029.1:c.776C>T, NM_001127662.2:c.725C>T, NM_001127662.1:c.725C>T, NM_001353078.2:c.71C>T, NM_001353078.1:c.71C>T, NM_001353053.1:c.725C>T, NM_001353054.1:c.725C>T, NM_001353062.1:c.725C>T, NM_001353075.1:c.758C>T, NM_001353077.1:c.758C>T, XM_011518594.2:c.251C>T, XM_011518594.1:c.251C>T, XM_017014645.2:c.788C>T, XM_017014645.1:c.788C>T, XM_011518585.2:c.815C>T, XM_011518585.1:c.815C>T, XM_005251944.2:c.758C>T, XM_005251944.1:c.758C>T, XM_047423269.1:c.758C>T, XM_047423273.1:c.725C>T, XM_047423267.1:c.758C>T, XM_047423268.1:c.758C>T, XM_047423272.1:c.725C>T, XM_047423265.1:c.872C>T, XM_047423270.1:c.758C>T, XM_047423266.1:c.788C>T, XM_047423271.1:c.758C>T, NP_000168.1:p.Ala293Val, NP_937895.1:p.Ala242Val, NP_001339988.1:p.Ala242Val, NP_001339995.1:p.Ala253Val, NP_001340002.1:p.Ala253Val, NP_001340000.1:p.Ala253Val, NP_001339990.1:p.Ala242Val, NP_001339987.1:p.Ala242Val, NP_001340001.1:p.Ala253Val, NP_001339998.1:p.Ala253Val, NP_001339997.1:p.Ala253Val, NP_001340003.1:p.Ala253Val, NP_001339994.1:p.Ala253Val, NP_001339993.1:p.Ala253Val, NP_001121135.2:p.Ala278Val, NP_001340005.1:p.Ala266Val, NP_001339985.1:p.Ala242Val, NP_001121136.1:p.Ala242Val, NP_001121137.1:p.Ala242Val, NP_001121138.1:p.Ala253Val, NP_001244959.1:p.Ala250Val, NP_001121139.1:p.Ala253Val, NP_001339999.1:p.Ala253Val, NP_001339989.1:p.Ala242Val, NP_001339984.1:p.Ala242Val, NP_001339986.1:p.Ala242Val, NP_001339996.1:p.Ala253Val, NP_001339992.1:p.Ala253Val, NP_001244958.1:p.Ala259Val, NP_001121134.1:p.Ala242Val, NP_001340007.1:p.Ala24Val, NP_001339982.1:p.Ala242Val, NP_001339983.1:p.Ala242Val, NP_001339991.1:p.Ala242Val, NP_001340004.1:p.Ala253Val, NP_001340006.1:p.Ala253Val, XP_011516896.1:p.Ala84Val, XP_016870134.1:p.Ala263Val, XP_011516887.1:p.Ala272Val, XP_005252001.1:p.Ala253Val, XP_047279225.1:p.Ala253Val, XP_047279229.1:p.Ala242Val, XP_047279223.1:p.Ala253Val, XP_047279224.1:p.Ala253Val, XP_047279228.1:p.Ala242Val, XP_047279221.1:p.Ala291Val, XP_047279226.1:p.Ala253Val, XP_047279222.1:p.Ala263Val, XP_047279227.1:p.Ala253Val

                              15.

                              rs1479110297 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                9:121310732 (GRCh38)
                                9:124073010 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:121310731:G:C
                                Gene:
                                GSN (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                HGVS:
                                NC_000009.12:g.121310732G>C, NC_000009.11:g.124073010G>C, NG_012872.2:g.114651G>C, NM_000177.5:c.553G>C, NM_000177.4:c.553G>C, NM_198252.3:c.400G>C, NM_198252.2:c.400G>C, NM_001353059.2:c.400G>C, NM_001353059.1:c.400G>C, NM_001353066.2:c.433G>C, NM_001353066.1:c.433G>C, NM_001353073.2:c.433G>C, NM_001353073.1:c.433G>C, NM_001353071.2:c.433G>C, NM_001353071.1:c.433G>C, NM_001353061.2:c.400G>C, NM_001353061.1:c.400G>C, NM_001353058.2:c.400G>C, NM_001353058.1:c.400G>C, NM_001353072.2:c.433G>C, NM_001353072.1:c.433G>C, NM_001353069.2:c.433G>C, NM_001353069.1:c.433G>C, NM_001353068.2:c.433G>C, NM_001353068.1:c.433G>C, NM_001353074.2:c.433G>C, NM_001353074.1:c.433G>C, NM_001353065.2:c.433G>C, NM_001353065.1:c.433G>C, NM_001353064.2:c.433G>C, NM_001353064.1:c.433G>C, NM_001127663.2:c.508G>C, NM_001127663.1:c.508G>C, NM_001353076.2:c.472G>C, NM_001353076.1:c.472G>C, NM_001353056.2:c.400G>C, NM_001353056.1:c.400G>C, NM_001127664.2:c.400G>C, NM_001127664.1:c.400G>C, NM_001127665.2:c.400G>C, NM_001127665.1:c.400G>C, NM_001127666.2:c.433G>C, NM_001127666.1:c.433G>C, NM_001258030.2:c.424G>C, NM_001258030.1:c.424G>C, NM_001127667.2:c.433G>C, NM_001127667.1:c.433G>C, NM_001353070.2:c.433G>C, NM_001353070.1:c.433G>C, NM_001353060.2:c.400G>C, NM_001353060.1:c.400G>C, NM_001353055.2:c.400G>C, NM_001353055.1:c.400G>C, NM_001353057.2:c.400G>C, NM_001353057.1:c.400G>C, NM_001353067.2:c.433G>C, NM_001353067.1:c.433G>C, NM_001353063.2:c.433G>C, NM_001353063.1:c.433G>C, NM_001258029.2:c.451G>C, NM_001258029.1:c.451G>C, NM_001127662.2:c.400G>C, NM_001127662.1:c.400G>C, NM_001353078.2:c.-255G>C, NM_001353078.1:c.-255G>C, NM_001353053.1:c.400G>C, NM_001353054.1:c.400G>C, NM_001353062.1:c.400G>C, NM_001353075.1:c.433G>C, NM_001353077.1:c.433G>C, XM_017014645.2:c.463G>C, XM_017014645.1:c.463G>C, XM_011518585.2:c.490G>C, XM_011518585.1:c.490G>C, XM_005251944.2:c.433G>C, XM_005251944.1:c.433G>C, XM_047423269.1:c.433G>C, XM_047423273.1:c.400G>C, XM_047423267.1:c.433G>C, XM_047423268.1:c.433G>C, XM_047423272.1:c.400G>C, XM_047423265.1:c.547G>C, XM_047423270.1:c.433G>C, XM_047423266.1:c.463G>C, XM_047423271.1:c.433G>C, NP_000168.1:p.Val185Leu, NP_937895.1:p.Val134Leu, NP_001339988.1:p.Val134Leu, NP_001339995.1:p.Val145Leu, NP_001340002.1:p.Val145Leu, NP_001340000.1:p.Val145Leu, NP_001339990.1:p.Val134Leu, NP_001339987.1:p.Val134Leu, NP_001340001.1:p.Val145Leu, NP_001339998.1:p.Val145Leu, NP_001339997.1:p.Val145Leu, NP_001340003.1:p.Val145Leu, NP_001339994.1:p.Val145Leu, NP_001339993.1:p.Val145Leu, NP_001121135.2:p.Val170Leu, NP_001340005.1:p.Val158Leu, NP_001339985.1:p.Val134Leu, NP_001121136.1:p.Val134Leu, NP_001121137.1:p.Val134Leu, NP_001121138.1:p.Val145Leu, NP_001244959.1:p.Val142Leu, NP_001121139.1:p.Val145Leu, NP_001339999.1:p.Val145Leu, NP_001339989.1:p.Val134Leu, NP_001339984.1:p.Val134Leu, NP_001339986.1:p.Val134Leu, NP_001339996.1:p.Val145Leu, NP_001339992.1:p.Val145Leu, NP_001244958.1:p.Val151Leu, NP_001121134.1:p.Val134Leu, NP_001339982.1:p.Val134Leu, NP_001339983.1:p.Val134Leu, NP_001339991.1:p.Val134Leu, NP_001340004.1:p.Val145Leu, NP_001340006.1:p.Val145Leu, XP_016870134.1:p.Val155Leu, XP_011516887.1:p.Val164Leu, XP_005252001.1:p.Val145Leu, XP_047279225.1:p.Val145Leu, XP_047279229.1:p.Val134Leu, XP_047279223.1:p.Val145Leu, XP_047279224.1:p.Val145Leu, XP_047279228.1:p.Val134Leu, XP_047279221.1:p.Val183Leu, XP_047279226.1:p.Val145Leu, XP_047279222.1:p.Val155Leu, XP_047279227.1:p.Val145Leu

                                16.

                                rs1476420188 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  9:121318720 (GRCh38)
                                  9:124080998 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:121318719:A:G,NC_000009.12:121318719:A:T
                                  Gene:
                                  GSN (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000224/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000009.12:g.121318720A>G, NC_000009.12:g.121318720A>T, NC_000009.11:g.124080998A>G, NC_000009.11:g.124080998A>T, NG_012872.2:g.122639A>G, NG_012872.2:g.122639A>T, NM_000177.5:c.1184A>G, NM_000177.5:c.1184A>T, NM_000177.4:c.1184A>G, NM_000177.4:c.1184A>T, NM_198252.3:c.1031A>G, NM_198252.3:c.1031A>T, NM_198252.2:c.1031A>G, NM_198252.2:c.1031A>T, NM_001353059.2:c.1031A>G, NM_001353059.2:c.1031A>T, NM_001353059.1:c.1031A>G, NM_001353059.1:c.1031A>T, NM_001353066.2:c.1064A>G, NM_001353066.2:c.1064A>T, NM_001353066.1:c.1064A>G, NM_001353066.1:c.1064A>T, NM_001353073.2:c.1064A>G, NM_001353073.2:c.1064A>T, NM_001353073.1:c.1064A>G, NM_001353073.1:c.1064A>T, NM_001353071.2:c.1064A>G, NM_001353071.2:c.1064A>T, NM_001353071.1:c.1064A>G, NM_001353071.1:c.1064A>T, NM_001353061.2:c.1031A>G, NM_001353061.2:c.1031A>T, NM_001353061.1:c.1031A>G, NM_001353061.1:c.1031A>T, NM_001353058.2:c.1031A>G, NM_001353058.2:c.1031A>T, NM_001353058.1:c.1031A>G, NM_001353058.1:c.1031A>T, NM_001353072.2:c.1064A>G, NM_001353072.2:c.1064A>T, NM_001353072.1:c.1064A>G, NM_001353072.1:c.1064A>T, NM_001353069.2:c.1064A>G, NM_001353069.2:c.1064A>T, NM_001353069.1:c.1064A>G, NM_001353069.1:c.1064A>T, NM_001353068.2:c.1064A>G, NM_001353068.2:c.1064A>T, NM_001353068.1:c.1064A>G, NM_001353068.1:c.1064A>T, NM_001353074.2:c.1064A>G, NM_001353074.2:c.1064A>T, NM_001353074.1:c.1064A>G, NM_001353074.1:c.1064A>T, NM_001353065.2:c.1064A>G, NM_001353065.2:c.1064A>T, NM_001353065.1:c.1064A>G, NM_001353065.1:c.1064A>T, NM_001353064.2:c.1064A>G, NM_001353064.2:c.1064A>T, NM_001353064.1:c.1064A>G, NM_001353064.1:c.1064A>T, NM_001127663.2:c.1139A>G, NM_001127663.2:c.1139A>T, NM_001127663.1:c.1139A>G, NM_001127663.1:c.1139A>T, NM_001353076.2:c.1103A>G, NM_001353076.2:c.1103A>T, NM_001353076.1:c.1103A>G, NM_001353076.1:c.1103A>T, NM_001353056.2:c.1031A>G, NM_001353056.2:c.1031A>T, NM_001353056.1:c.1031A>G, NM_001353056.1:c.1031A>T, NM_001127664.2:c.1031A>G, NM_001127664.2:c.1031A>T, NM_001127664.1:c.1031A>G, NM_001127664.1:c.1031A>T, NM_001127665.2:c.1031A>G, NM_001127665.2:c.1031A>T, NM_001127665.1:c.1031A>G, NM_001127665.1:c.1031A>T, NM_001127666.2:c.1064A>G, NM_001127666.2:c.1064A>T, NM_001127666.1:c.1064A>G, NM_001127666.1:c.1064A>T, NM_001258030.2:c.1055A>G, NM_001258030.2:c.1055A>T, NM_001258030.1:c.1055A>G, NM_001258030.1:c.1055A>T, NM_001127667.2:c.1064A>G, NM_001127667.2:c.1064A>T, NM_001127667.1:c.1064A>G, NM_001127667.1:c.1064A>T, NM_001353070.2:c.1064A>G, NM_001353070.2:c.1064A>T, NM_001353070.1:c.1064A>G, NM_001353070.1:c.1064A>T, NM_001353060.2:c.1031A>G, NM_001353060.2:c.1031A>T, NM_001353060.1:c.1031A>G, NM_001353060.1:c.1031A>T, NM_001353055.2:c.1031A>G, NM_001353055.2:c.1031A>T, NM_001353055.1:c.1031A>G, NM_001353055.1:c.1031A>T, NM_001353057.2:c.1031A>G, NM_001353057.2:c.1031A>T, NM_001353057.1:c.1031A>G, NM_001353057.1:c.1031A>T, NM_001353067.2:c.1064A>G, NM_001353067.2:c.1064A>T, NM_001353067.1:c.1064A>G, NM_001353067.1:c.1064A>T, NM_001353063.2:c.1064A>G, NM_001353063.2:c.1064A>T, NM_001353063.1:c.1064A>G, NM_001353063.1:c.1064A>T, NM_001258029.2:c.1082A>G, NM_001258029.2:c.1082A>T, NM_001258029.1:c.1082A>G, NM_001258029.1:c.1082A>T, NM_001127662.2:c.1031A>G, NM_001127662.2:c.1031A>T, NM_001127662.1:c.1031A>G, NM_001127662.1:c.1031A>T, NM_001353078.2:c.377A>G, NM_001353078.2:c.377A>T, NM_001353078.1:c.377A>G, NM_001353078.1:c.377A>T, NM_001353053.1:c.1031A>G, NM_001353053.1:c.1031A>T, NM_001353054.1:c.1031A>G, NM_001353054.1:c.1031A>T, NM_001353062.1:c.1031A>G, NM_001353062.1:c.1031A>T, NM_001353075.1:c.1064A>G, NM_001353075.1:c.1064A>T, NM_001353077.1:c.1064A>G, NM_001353077.1:c.1064A>T, XM_011518594.2:c.557A>G, XM_011518594.2:c.557A>T, XM_011518594.1:c.557A>G, XM_011518594.1:c.557A>T, XM_017014645.2:c.1094A>G, XM_017014645.2:c.1094A>T, XM_017014645.1:c.1094A>G, XM_017014645.1:c.1094A>T, XM_011518585.2:c.1121A>G, XM_011518585.2:c.1121A>T, XM_011518585.1:c.1121A>G, XM_011518585.1:c.1121A>T, XM_005251944.2:c.1064A>G, XM_005251944.2:c.1064A>T, XM_005251944.1:c.1064A>G, XM_005251944.1:c.1064A>T, XM_047423269.1:c.1064A>G, XM_047423269.1:c.1064A>T, XM_047423273.1:c.1031A>G, XM_047423273.1:c.1031A>T, XM_047423267.1:c.1064A>G, XM_047423267.1:c.1064A>T, XM_047423268.1:c.1064A>G, XM_047423268.1:c.1064A>T, XM_047423272.1:c.1031A>G, XM_047423272.1:c.1031A>T, XM_047423265.1:c.1178A>G, XM_047423265.1:c.1178A>T, XM_047423270.1:c.1064A>G, XM_047423270.1:c.1064A>T, XM_047423266.1:c.1094A>G, XM_047423266.1:c.1094A>T, XM_047423271.1:c.1064A>G, XM_047423271.1:c.1064A>T, NP_000168.1:p.Asn395Ser, NP_000168.1:p.Asn395Ile, NP_937895.1:p.Asn344Ser, NP_937895.1:p.Asn344Ile, NP_001339988.1:p.Asn344Ser, NP_001339988.1:p.Asn344Ile, NP_001339995.1:p.Asn355Ser, NP_001339995.1:p.Asn355Ile, NP_001340002.1:p.Asn355Ser, NP_001340002.1:p.Asn355Ile, NP_001340000.1:p.Asn355Ser, NP_001340000.1:p.Asn355Ile, NP_001339990.1:p.Asn344Ser, NP_001339990.1:p.Asn344Ile, NP_001339987.1:p.Asn344Ser, NP_001339987.1:p.Asn344Ile, NP_001340001.1:p.Asn355Ser, NP_001340001.1:p.Asn355Ile, NP_001339998.1:p.Asn355Ser, NP_001339998.1:p.Asn355Ile, NP_001339997.1:p.Asn355Ser, NP_001339997.1:p.Asn355Ile, NP_001340003.1:p.Asn355Ser, NP_001340003.1:p.Asn355Ile, NP_001339994.1:p.Asn355Ser, NP_001339994.1:p.Asn355Ile, NP_001339993.1:p.Asn355Ser, NP_001339993.1:p.Asn355Ile, NP_001121135.2:p.Asn380Ser, NP_001121135.2:p.Asn380Ile, NP_001340005.1:p.Asn368Ser, NP_001340005.1:p.Asn368Ile, NP_001339985.1:p.Asn344Ser, NP_001339985.1:p.Asn344Ile, NP_001121136.1:p.Asn344Ser, NP_001121136.1:p.Asn344Ile, NP_001121137.1:p.Asn344Ser, NP_001121137.1:p.Asn344Ile, NP_001121138.1:p.Asn355Ser, NP_001121138.1:p.Asn355Ile, NP_001244959.1:p.Asn352Ser, NP_001244959.1:p.Asn352Ile, NP_001121139.1:p.Asn355Ser, NP_001121139.1:p.Asn355Ile, NP_001339999.1:p.Asn355Ser, NP_001339999.1:p.Asn355Ile, NP_001339989.1:p.Asn344Ser, NP_001339989.1:p.Asn344Ile, NP_001339984.1:p.Asn344Ser, NP_001339984.1:p.Asn344Ile, NP_001339986.1:p.Asn344Ser, NP_001339986.1:p.Asn344Ile, NP_001339996.1:p.Asn355Ser, NP_001339996.1:p.Asn355Ile, NP_001339992.1:p.Asn355Ser, NP_001339992.1:p.Asn355Ile, NP_001244958.1:p.Asn361Ser, NP_001244958.1:p.Asn361Ile, NP_001121134.1:p.Asn344Ser, NP_001121134.1:p.Asn344Ile, NP_001340007.1:p.Asn126Ser, NP_001340007.1:p.Asn126Ile, NP_001339982.1:p.Asn344Ser, NP_001339982.1:p.Asn344Ile, NP_001339983.1:p.Asn344Ser, NP_001339983.1:p.Asn344Ile, NP_001339991.1:p.Asn344Ser, NP_001339991.1:p.Asn344Ile, NP_001340004.1:p.Asn355Ser, NP_001340004.1:p.Asn355Ile, NP_001340006.1:p.Asn355Ser, NP_001340006.1:p.Asn355Ile, XP_011516896.1:p.Asn186Ser, XP_011516896.1:p.Asn186Ile, XP_016870134.1:p.Asn365Ser, XP_016870134.1:p.Asn365Ile, XP_011516887.1:p.Asn374Ser, XP_011516887.1:p.Asn374Ile, XP_005252001.1:p.Asn355Ser, XP_005252001.1:p.Asn355Ile, XP_047279225.1:p.Asn355Ser, XP_047279225.1:p.Asn355Ile, XP_047279229.1:p.Asn344Ser, XP_047279229.1:p.Asn344Ile, XP_047279223.1:p.Asn355Ser, XP_047279223.1:p.Asn355Ile, XP_047279224.1:p.Asn355Ser, XP_047279224.1:p.Asn355Ile, XP_047279228.1:p.Asn344Ser, XP_047279228.1:p.Asn344Ile, XP_047279221.1:p.Asn393Ser, XP_047279221.1:p.Asn393Ile, XP_047279226.1:p.Asn355Ser, XP_047279226.1:p.Asn355Ile, XP_047279222.1:p.Asn365Ser, XP_047279222.1:p.Asn365Ile, XP_047279227.1:p.Asn355Ser, XP_047279227.1:p.Asn355Ile

                                  17.

                                  rs1475977136 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:121326615 (GRCh38)
                                    9:124088893 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:121326614:C:T
                                    Gene:
                                    GSN (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.121326615C>T, NC_000009.11:g.124088893C>T, NG_012872.2:g.130534C>T, NM_000177.5:c.1673C>T, NM_000177.4:c.1673C>T, NM_198252.3:c.1520C>T, NM_198252.2:c.1520C>T, NM_001353059.2:c.1520C>T, NM_001353059.1:c.1520C>T, NM_001353066.2:c.1553C>T, NM_001353066.1:c.1553C>T, NM_001353073.2:c.1553C>T, NM_001353073.1:c.1553C>T, NM_001353071.2:c.1553C>T, NM_001353071.1:c.1553C>T, NM_001353061.2:c.1520C>T, NM_001353061.1:c.1520C>T, NM_001353058.2:c.1520C>T, NM_001353058.1:c.1520C>T, NM_001353072.2:c.1553C>T, NM_001353072.1:c.1553C>T, NM_001353069.2:c.1553C>T, NM_001353069.1:c.1553C>T, NM_001353068.2:c.1553C>T, NM_001353068.1:c.1553C>T, NM_001353074.2:c.1553C>T, NM_001353074.1:c.1553C>T, NM_001353065.2:c.1553C>T, NM_001353065.1:c.1553C>T, NM_001353064.2:c.1553C>T, NM_001353064.1:c.1553C>T, NM_001127663.2:c.1628C>T, NM_001127663.1:c.1628C>T, NM_001353076.2:c.1592C>T, NM_001353076.1:c.1592C>T, NM_001353056.2:c.1520C>T, NM_001353056.1:c.1520C>T, NM_001127664.2:c.1520C>T, NM_001127664.1:c.1520C>T, NM_001127665.2:c.1520C>T, NM_001127665.1:c.1520C>T, NM_001127666.2:c.1553C>T, NM_001127666.1:c.1553C>T, NM_001258030.2:c.1544C>T, NM_001258030.1:c.1544C>T, NM_001127667.2:c.1553C>T, NM_001127667.1:c.1553C>T, NM_001353070.2:c.1553C>T, NM_001353070.1:c.1553C>T, NM_001353060.2:c.1520C>T, NM_001353060.1:c.1520C>T, NM_001353055.2:c.1520C>T, NM_001353055.1:c.1520C>T, NM_001353057.2:c.1520C>T, NM_001353057.1:c.1520C>T, NM_001353067.2:c.1553C>T, NM_001353067.1:c.1553C>T, NM_001353063.2:c.1553C>T, NM_001353063.1:c.1553C>T, NM_001258029.2:c.1571C>T, NM_001258029.1:c.1571C>T, NM_001127662.2:c.1520C>T, NM_001127662.1:c.1520C>T, NM_001353078.2:c.866C>T, NM_001353078.1:c.866C>T, NM_001353053.1:c.1520C>T, NM_001353054.1:c.1520C>T, NM_001353062.1:c.1520C>T, NM_001353075.1:c.1553C>T, NM_001353077.1:c.1553C>T, XM_011518594.2:c.1046C>T, XM_011518594.1:c.1046C>T, XM_017014645.2:c.1583C>T, XM_017014645.1:c.1583C>T, XM_011518585.2:c.1610C>T, XM_011518585.1:c.1610C>T, XM_005251944.2:c.1553C>T, XM_005251944.1:c.1553C>T, XM_047423269.1:c.1553C>T, XM_047423273.1:c.1520C>T, XM_047423267.1:c.1553C>T, XM_047423268.1:c.1553C>T, XM_047423272.1:c.1520C>T, XM_047423265.1:c.1667C>T, XM_047423270.1:c.1553C>T, XM_047423266.1:c.1583C>T, XM_047423271.1:c.1553C>T, NP_000168.1:p.Thr558Ile, NP_937895.1:p.Thr507Ile, NP_001339988.1:p.Thr507Ile, NP_001339995.1:p.Thr518Ile, NP_001340002.1:p.Thr518Ile, NP_001340000.1:p.Thr518Ile, NP_001339990.1:p.Thr507Ile, NP_001339987.1:p.Thr507Ile, NP_001340001.1:p.Thr518Ile, NP_001339998.1:p.Thr518Ile, NP_001339997.1:p.Thr518Ile, NP_001340003.1:p.Thr518Ile, NP_001339994.1:p.Thr518Ile, NP_001339993.1:p.Thr518Ile, NP_001121135.2:p.Thr543Ile, NP_001340005.1:p.Thr531Ile, NP_001339985.1:p.Thr507Ile, NP_001121136.1:p.Thr507Ile, NP_001121137.1:p.Thr507Ile, NP_001121138.1:p.Thr518Ile, NP_001244959.1:p.Thr515Ile, NP_001121139.1:p.Thr518Ile, NP_001339999.1:p.Thr518Ile, NP_001339989.1:p.Thr507Ile, NP_001339984.1:p.Thr507Ile, NP_001339986.1:p.Thr507Ile, NP_001339996.1:p.Thr518Ile, NP_001339992.1:p.Thr518Ile, NP_001244958.1:p.Thr524Ile, NP_001121134.1:p.Thr507Ile, NP_001340007.1:p.Thr289Ile, NP_001339982.1:p.Thr507Ile, NP_001339983.1:p.Thr507Ile, NP_001339991.1:p.Thr507Ile, NP_001340004.1:p.Thr518Ile, NP_001340006.1:p.Thr518Ile, XP_011516896.1:p.Thr349Ile, XP_016870134.1:p.Thr528Ile, XP_011516887.1:p.Thr537Ile, XP_005252001.1:p.Thr518Ile, XP_047279225.1:p.Thr518Ile, XP_047279229.1:p.Thr507Ile, XP_047279223.1:p.Thr518Ile, XP_047279224.1:p.Thr518Ile, XP_047279228.1:p.Thr507Ile, XP_047279221.1:p.Thr556Ile, XP_047279226.1:p.Thr518Ile, XP_047279222.1:p.Thr528Ile, XP_047279227.1:p.Thr518Ile

                                    18.

                                    rs1475224120 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:121324616 (GRCh38)
                                      9:124086894 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:121324615:A:G
                                      Gene:
                                      GSN (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000013/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.121324616A>G, NC_000009.11:g.124086894A>G, NG_012872.2:g.128535A>G, NM_000177.5:c.1541A>G, NM_000177.4:c.1541A>G, NM_198252.3:c.1388A>G, NM_198252.2:c.1388A>G, NM_001353059.2:c.1388A>G, NM_001353059.1:c.1388A>G, NM_001353066.2:c.1421A>G, NM_001353066.1:c.1421A>G, NM_001353073.2:c.1421A>G, NM_001353073.1:c.1421A>G, NM_001353071.2:c.1421A>G, NM_001353071.1:c.1421A>G, NM_001353061.2:c.1388A>G, NM_001353061.1:c.1388A>G, NM_001353058.2:c.1388A>G, NM_001353058.1:c.1388A>G, NM_001353072.2:c.1421A>G, NM_001353072.1:c.1421A>G, NM_001353069.2:c.1421A>G, NM_001353069.1:c.1421A>G, NM_001353068.2:c.1421A>G, NM_001353068.1:c.1421A>G, NM_001353074.2:c.1421A>G, NM_001353074.1:c.1421A>G, NM_001353065.2:c.1421A>G, NM_001353065.1:c.1421A>G, NM_001353064.2:c.1421A>G, NM_001353064.1:c.1421A>G, NM_001127663.2:c.1496A>G, NM_001127663.1:c.1496A>G, NM_001353076.2:c.1460A>G, NM_001353076.1:c.1460A>G, NM_001353056.2:c.1388A>G, NM_001353056.1:c.1388A>G, NM_001127664.2:c.1388A>G, NM_001127664.1:c.1388A>G, NM_001127665.2:c.1388A>G, NM_001127665.1:c.1388A>G, NM_001127666.2:c.1421A>G, NM_001127666.1:c.1421A>G, NM_001258030.2:c.1412A>G, NM_001258030.1:c.1412A>G, NM_001127667.2:c.1421A>G, NM_001127667.1:c.1421A>G, NM_001353070.2:c.1421A>G, NM_001353070.1:c.1421A>G, NM_001353060.2:c.1388A>G, NM_001353060.1:c.1388A>G, NM_001353055.2:c.1388A>G, NM_001353055.1:c.1388A>G, NM_001353057.2:c.1388A>G, NM_001353057.1:c.1388A>G, NM_001353067.2:c.1421A>G, NM_001353067.1:c.1421A>G, NM_001353063.2:c.1421A>G, NM_001353063.1:c.1421A>G, NM_001258029.2:c.1439A>G, NM_001258029.1:c.1439A>G, NM_001127662.2:c.1388A>G, NM_001127662.1:c.1388A>G, NM_001353078.2:c.734A>G, NM_001353078.1:c.734A>G, NM_001353053.1:c.1388A>G, NM_001353054.1:c.1388A>G, NM_001353062.1:c.1388A>G, NM_001353075.1:c.1421A>G, NM_001353077.1:c.1421A>G, XM_011518594.2:c.914A>G, XM_011518594.1:c.914A>G, XM_017014645.2:c.1451A>G, XM_017014645.1:c.1451A>G, XM_011518585.2:c.1478A>G, XM_011518585.1:c.1478A>G, XM_005251944.2:c.1421A>G, XM_005251944.1:c.1421A>G, XM_047423269.1:c.1421A>G, XM_047423273.1:c.1388A>G, XM_047423267.1:c.1421A>G, XM_047423268.1:c.1421A>G, XM_047423272.1:c.1388A>G, XM_047423265.1:c.1535A>G, XM_047423270.1:c.1421A>G, XM_047423266.1:c.1451A>G, XM_047423271.1:c.1421A>G, NP_000168.1:p.Asp514Gly, NP_937895.1:p.Asp463Gly, NP_001339988.1:p.Asp463Gly, NP_001339995.1:p.Asp474Gly, NP_001340002.1:p.Asp474Gly, NP_001340000.1:p.Asp474Gly, NP_001339990.1:p.Asp463Gly, NP_001339987.1:p.Asp463Gly, NP_001340001.1:p.Asp474Gly, NP_001339998.1:p.Asp474Gly, NP_001339997.1:p.Asp474Gly, NP_001340003.1:p.Asp474Gly, NP_001339994.1:p.Asp474Gly, NP_001339993.1:p.Asp474Gly, NP_001121135.2:p.Asp499Gly, NP_001340005.1:p.Asp487Gly, NP_001339985.1:p.Asp463Gly, NP_001121136.1:p.Asp463Gly, NP_001121137.1:p.Asp463Gly, NP_001121138.1:p.Asp474Gly, NP_001244959.1:p.Asp471Gly, NP_001121139.1:p.Asp474Gly, NP_001339999.1:p.Asp474Gly, NP_001339989.1:p.Asp463Gly, NP_001339984.1:p.Asp463Gly, NP_001339986.1:p.Asp463Gly, NP_001339996.1:p.Asp474Gly, NP_001339992.1:p.Asp474Gly, NP_001244958.1:p.Asp480Gly, NP_001121134.1:p.Asp463Gly, NP_001340007.1:p.Asp245Gly, NP_001339982.1:p.Asp463Gly, NP_001339983.1:p.Asp463Gly, NP_001339991.1:p.Asp463Gly, NP_001340004.1:p.Asp474Gly, NP_001340006.1:p.Asp474Gly, XP_011516896.1:p.Asp305Gly, XP_016870134.1:p.Asp484Gly, XP_011516887.1:p.Asp493Gly, XP_005252001.1:p.Asp474Gly, XP_047279225.1:p.Asp474Gly, XP_047279229.1:p.Asp463Gly, XP_047279223.1:p.Asp474Gly, XP_047279224.1:p.Asp474Gly, XP_047279228.1:p.Asp463Gly, XP_047279221.1:p.Asp512Gly, XP_047279226.1:p.Asp474Gly, XP_047279222.1:p.Asp484Gly, XP_047279227.1:p.Asp474Gly

                                      19.

                                      rs1475171830 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        9:121318454 (GRCh38)
                                        9:124080732 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:121318453:C:G
                                        Gene:
                                        GSN (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.121318454C>G, NC_000009.11:g.124080732C>G, NG_012872.2:g.122373C>G, NM_000177.5:c.1088C>G, NM_000177.4:c.1088C>G, NM_198252.3:c.935C>G, NM_198252.2:c.935C>G, NM_001353059.2:c.935C>G, NM_001353059.1:c.935C>G, NM_001353066.2:c.968C>G, NM_001353066.1:c.968C>G, NM_001353073.2:c.968C>G, NM_001353073.1:c.968C>G, NM_001353071.2:c.968C>G, NM_001353071.1:c.968C>G, NM_001353061.2:c.935C>G, NM_001353061.1:c.935C>G, NM_001353058.2:c.935C>G, NM_001353058.1:c.935C>G, NM_001353072.2:c.968C>G, NM_001353072.1:c.968C>G, NM_001353069.2:c.968C>G, NM_001353069.1:c.968C>G, NM_001353068.2:c.968C>G, NM_001353068.1:c.968C>G, NM_001353074.2:c.968C>G, NM_001353074.1:c.968C>G, NM_001353065.2:c.968C>G, NM_001353065.1:c.968C>G, NM_001353064.2:c.968C>G, NM_001353064.1:c.968C>G, NM_001127663.2:c.1043C>G, NM_001127663.1:c.1043C>G, NM_001353076.2:c.1007C>G, NM_001353076.1:c.1007C>G, NM_001353056.2:c.935C>G, NM_001353056.1:c.935C>G, NM_001127664.2:c.935C>G, NM_001127664.1:c.935C>G, NM_001127665.2:c.935C>G, NM_001127665.1:c.935C>G, NM_001127666.2:c.968C>G, NM_001127666.1:c.968C>G, NM_001258030.2:c.959C>G, NM_001258030.1:c.959C>G, NM_001127667.2:c.968C>G, NM_001127667.1:c.968C>G, NM_001353070.2:c.968C>G, NM_001353070.1:c.968C>G, NM_001353060.2:c.935C>G, NM_001353060.1:c.935C>G, NM_001353055.2:c.935C>G, NM_001353055.1:c.935C>G, NM_001353057.2:c.935C>G, NM_001353057.1:c.935C>G, NM_001353067.2:c.968C>G, NM_001353067.1:c.968C>G, NM_001353063.2:c.968C>G, NM_001353063.1:c.968C>G, NM_001258029.2:c.986C>G, NM_001258029.1:c.986C>G, NM_001127662.2:c.935C>G, NM_001127662.1:c.935C>G, NM_001353078.2:c.281C>G, NM_001353078.1:c.281C>G, NM_001353053.1:c.935C>G, NM_001353054.1:c.935C>G, NM_001353062.1:c.935C>G, NM_001353075.1:c.968C>G, NM_001353077.1:c.968C>G, XM_011518594.2:c.461C>G, XM_011518594.1:c.461C>G, XM_017014645.2:c.998C>G, XM_017014645.1:c.998C>G, XM_011518585.2:c.1025C>G, XM_011518585.1:c.1025C>G, XM_005251944.2:c.968C>G, XM_005251944.1:c.968C>G, XM_047423269.1:c.968C>G, XM_047423273.1:c.935C>G, XM_047423267.1:c.968C>G, XM_047423268.1:c.968C>G, XM_047423272.1:c.935C>G, XM_047423265.1:c.1082C>G, XM_047423270.1:c.968C>G, XM_047423266.1:c.998C>G, XM_047423271.1:c.968C>G, NP_000168.1:p.Ser363Cys, NP_937895.1:p.Ser312Cys, NP_001339988.1:p.Ser312Cys, NP_001339995.1:p.Ser323Cys, NP_001340002.1:p.Ser323Cys, NP_001340000.1:p.Ser323Cys, NP_001339990.1:p.Ser312Cys, NP_001339987.1:p.Ser312Cys, NP_001340001.1:p.Ser323Cys, NP_001339998.1:p.Ser323Cys, NP_001339997.1:p.Ser323Cys, NP_001340003.1:p.Ser323Cys, NP_001339994.1:p.Ser323Cys, NP_001339993.1:p.Ser323Cys, NP_001121135.2:p.Ser348Cys, NP_001340005.1:p.Ser336Cys, NP_001339985.1:p.Ser312Cys, NP_001121136.1:p.Ser312Cys, NP_001121137.1:p.Ser312Cys, NP_001121138.1:p.Ser323Cys, NP_001244959.1:p.Ser320Cys, NP_001121139.1:p.Ser323Cys, NP_001339999.1:p.Ser323Cys, NP_001339989.1:p.Ser312Cys, NP_001339984.1:p.Ser312Cys, NP_001339986.1:p.Ser312Cys, NP_001339996.1:p.Ser323Cys, NP_001339992.1:p.Ser323Cys, NP_001244958.1:p.Ser329Cys, NP_001121134.1:p.Ser312Cys, NP_001340007.1:p.Ser94Cys, NP_001339982.1:p.Ser312Cys, NP_001339983.1:p.Ser312Cys, NP_001339991.1:p.Ser312Cys, NP_001340004.1:p.Ser323Cys, NP_001340006.1:p.Ser323Cys, XP_011516896.1:p.Ser154Cys, XP_016870134.1:p.Ser333Cys, XP_011516887.1:p.Ser342Cys, XP_005252001.1:p.Ser323Cys, XP_047279225.1:p.Ser323Cys, XP_047279229.1:p.Ser312Cys, XP_047279223.1:p.Ser323Cys, XP_047279224.1:p.Ser323Cys, XP_047279228.1:p.Ser312Cys, XP_047279221.1:p.Ser361Cys, XP_047279226.1:p.Ser323Cys, XP_047279222.1:p.Ser333Cys, XP_047279227.1:p.Ser323Cys

                                        20.

                                        rs1474343090 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          9:121299905 (GRCh38)
                                          9:124062183 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:121299904:C:A,NC_000009.12:121299904:C:T
                                          Gene:
                                          GSN (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.00014/2 (TOMMO)
                                          T=0.00212/6 (KOREAN)
                                          HGVS:

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