U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 483

1.

rs1487951931 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    7:105142427 (GRCh38)
    7:104782874 (GRCh37)
    Canonical SPDI:
    NC_000007.14:105142426:T:C,NC_000007.14:105142426:T:G
    Gene:
    SRPK2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.105142427T>C, NC_000007.14:g.105142427T>G, NC_000007.13:g.104782874T>C, NC_000007.13:g.104782874T>G, XM_006716098.4:c.1091A>G, XM_006716098.4:c.1091A>C, XM_006716098.3:c.1091A>G, XM_006716098.3:c.1091A>C, XM_006716098.2:c.1091A>G, XM_006716098.2:c.1091A>C, XM_006716098.1:c.1091A>G, XM_006716098.1:c.1091A>C, XM_011516536.4:c.1124A>G, XM_011516536.4:c.1124A>C, XM_011516536.3:c.1124A>G, XM_011516536.3:c.1124A>C, XM_011516536.2:c.1124A>G, XM_011516536.2:c.1124A>C, XM_011516536.1:c.1124A>G, XM_011516536.1:c.1124A>C, XR_001744861.3:n.1320A>G, XR_001744861.3:n.1320A>C, XR_001744861.2:n.1271A>G, XR_001744861.2:n.1271A>C, XR_001744861.1:n.1172A>G, XR_001744861.1:n.1172A>C, XR_001744863.3:n.1320A>G, XR_001744863.3:n.1320A>C, XR_001744863.2:n.1264A>G, XR_001744863.2:n.1264A>C, XR_001744863.1:n.1172A>G, XR_001744863.1:n.1172A>C, XM_017012561.3:c.1202A>G, XM_017012561.3:c.1202A>C, XM_017012561.2:c.1202A>G, XM_017012561.2:c.1202A>C, XM_017012561.1:c.1091A>G, XM_017012561.1:c.1091A>C, NM_182691.3:c.1091A>G, NM_182691.3:c.1091A>C, NM_182691.2:c.1091A>G, NM_182691.2:c.1091A>C, NM_182692.3:c.1124A>G, NM_182692.3:c.1124A>C, NM_182692.2:c.1124A>G, NM_182692.2:c.1124A>C, XM_011516538.3:c.1091A>G, XM_011516538.3:c.1091A>C, XM_011516538.2:c.1091A>G, XM_011516538.2:c.1091A>C, XM_011516538.1:c.1091A>G, XM_011516538.1:c.1091A>C, XR_001744862.3:n.1320A>G, XR_001744862.3:n.1320A>C, XR_001744862.2:n.1271A>G, XR_001744862.2:n.1271A>C, XR_001744862.1:n.1172A>G, XR_001744862.1:n.1172A>C, XM_024446893.2:c.1202A>G, XM_024446893.2:c.1202A>C, XM_024446893.1:c.1202A>G, XM_024446893.1:c.1202A>C, NM_001350743.2:c.1091A>G, NM_001350743.2:c.1091A>C, NM_001350743.1:c.1091A>G, NM_001350743.1:c.1091A>C, NM_001350744.2:c.1091A>G, NM_001350744.2:c.1091A>C, NM_001350744.1:c.1091A>G, NM_001350744.1:c.1091A>C, XM_024446894.2:c.1235A>G, XM_024446894.2:c.1235A>C, XM_024446894.1:c.1235A>G, XM_024446894.1:c.1235A>C, NM_001350741.2:c.1124A>G, NM_001350741.2:c.1124A>C, NM_001350741.1:c.1124A>G, NM_001350741.1:c.1124A>C, NM_001350742.2:c.1202A>G, NM_001350742.2:c.1202A>C, NM_001350742.1:c.1202A>G, NM_001350742.1:c.1202A>C, NM_001350738.2:c.1091A>G, NM_001350738.2:c.1091A>C, NM_001350738.1:c.1091A>G, NM_001350738.1:c.1091A>C, NM_001350739.2:c.1091A>G, NM_001350739.2:c.1091A>C, NM_001350739.1:c.1091A>G, NM_001350739.1:c.1091A>C, NM_001278273.2:c.1091A>G, NM_001278273.2:c.1091A>C, NM_001278273.1:c.1091A>G, NM_001278273.1:c.1091A>C, XM_024446895.2:c.1235A>G, XM_024446895.2:c.1235A>C, XM_024446895.1:c.1235A>G, XM_024446895.1:c.1235A>C, NM_001350740.2:c.1235A>G, NM_001350740.2:c.1235A>C, NM_001350740.1:c.1235A>G, NM_001350740.1:c.1235A>C, NM_001350745.2:c.953A>G, NM_001350745.2:c.953A>C, NM_001350745.1:c.953A>G, NM_001350745.1:c.953A>C, NM_001350746.2:c.1202A>G, NM_001350746.2:c.1202A>C, NM_001350746.1:c.1202A>G, NM_001350746.1:c.1202A>C, XR_007060152.1:n.1239A>G, XR_007060152.1:n.1239A>C, XR_007060149.1:n.1320A>G, XR_007060149.1:n.1320A>C, XM_047420772.1:c.1091A>G, XM_047420772.1:c.1091A>C, XM_047420775.1:c.791A>G, XM_047420775.1:c.791A>C, XM_047420774.1:c.791A>G, XM_047420774.1:c.791A>C, XM_047420773.1:c.1124A>G, XM_047420773.1:c.1124A>C, XM_047420776.1:c.1124A>G, XM_047420776.1:c.1124A>C, XR_007060148.1:n.1239A>G, XR_007060148.1:n.1239A>C, XR_007060147.1:n.1320A>G, XR_007060147.1:n.1320A>C, XR_007060150.1:n.1320A>G, XR_007060150.1:n.1320A>C, XR_007060153.1:n.1239A>G, XR_007060153.1:n.1239A>C, XR_007060151.1:n.1320A>G, XR_007060151.1:n.1320A>C, XP_006716161.1:p.Asp364Gly, XP_006716161.1:p.Asp364Ala, XP_011514838.1:p.Asp375Gly, XP_011514838.1:p.Asp375Ala, XP_016868050.2:p.Asp401Gly, XP_016868050.2:p.Asp401Ala, NP_872633.1:p.Asp364Gly, NP_872633.1:p.Asp364Ala, NP_872634.1:p.Asp375Gly, NP_872634.1:p.Asp375Ala, XP_011514840.1:p.Asp364Gly, XP_011514840.1:p.Asp364Ala, XP_024302661.1:p.Asp401Gly, XP_024302661.1:p.Asp401Ala, NP_001337672.1:p.Asp364Gly, NP_001337672.1:p.Asp364Ala, NP_001337673.1:p.Asp364Gly, NP_001337673.1:p.Asp364Ala, XP_024302662.1:p.Asp412Gly, XP_024302662.1:p.Asp412Ala, NP_001337670.1:p.Asp375Gly, NP_001337670.1:p.Asp375Ala, NP_001337671.1:p.Asp401Gly, NP_001337671.1:p.Asp401Ala, NP_001337667.1:p.Asp364Gly, NP_001337667.1:p.Asp364Ala, NP_001337668.1:p.Asp364Gly, NP_001337668.1:p.Asp364Ala, NP_001265202.1:p.Asp364Gly, NP_001265202.1:p.Asp364Ala, XP_024302663.1:p.Asp412Gly, XP_024302663.1:p.Asp412Ala, NP_001337669.1:p.Asp412Gly, NP_001337669.1:p.Asp412Ala, NP_001337674.1:p.Asp318Gly, NP_001337674.1:p.Asp318Ala, NP_001337675.1:p.Asp401Gly, NP_001337675.1:p.Asp401Ala, XP_047276728.1:p.Asp364Gly, XP_047276728.1:p.Asp364Ala, XP_047276731.1:p.Asp264Gly, XP_047276731.1:p.Asp264Ala, XP_047276730.1:p.Asp264Gly, XP_047276730.1:p.Asp264Ala, XP_047276729.1:p.Asp375Gly, XP_047276729.1:p.Asp375Ala, XP_047276732.1:p.Asp375Gly, XP_047276732.1:p.Asp375Ala

    2.

    rs1482951548 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      7:105142035 (GRCh38)
      7:104782482 (GRCh37)
      Canonical SPDI:
      NC_000007.14:105142034:C:A
      Gene:
      SRPK2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.105142035C>A, NC_000007.13:g.104782482C>A, XM_006716098.4:c.1483G>T, XM_006716098.3:c.1483G>T, XM_006716098.2:c.1483G>T, XM_006716098.1:c.1483G>T, XM_011516536.4:c.1516G>T, XM_011516536.3:c.1516G>T, XM_011516536.2:c.1516G>T, XM_011516536.1:c.1516G>T, XR_001744861.3:n.1712G>T, XR_001744861.2:n.1663G>T, XR_001744861.1:n.1564G>T, XR_001744863.3:n.1712G>T, XR_001744863.2:n.1656G>T, XR_001744863.1:n.1564G>T, XM_017012561.3:c.1594G>T, XM_017012561.2:c.1594G>T, XM_017012561.1:c.1483G>T, NM_182691.3:c.1483G>T, NM_182691.2:c.1483G>T, NM_182692.3:c.1516G>T, NM_182692.2:c.1516G>T, XM_011516538.3:c.1483G>T, XM_011516538.2:c.1483G>T, XM_011516538.1:c.1483G>T, XR_001744862.3:n.1712G>T, XR_001744862.2:n.1663G>T, XR_001744862.1:n.1564G>T, XM_024446893.2:c.1594G>T, XM_024446893.1:c.1594G>T, NM_001350743.2:c.1483G>T, NM_001350743.1:c.1483G>T, NM_001350744.2:c.1483G>T, NM_001350744.1:c.1483G>T, XM_024446894.2:c.1627G>T, XM_024446894.1:c.1627G>T, NM_001350741.2:c.1516G>T, NM_001350741.1:c.1516G>T, NM_001350742.2:c.1594G>T, NM_001350742.1:c.1594G>T, NM_001350738.2:c.1483G>T, NM_001350738.1:c.1483G>T, NM_001350739.2:c.1483G>T, NM_001350739.1:c.1483G>T, NM_001278273.2:c.1483G>T, NM_001278273.1:c.1483G>T, XM_024446895.2:c.1627G>T, XM_024446895.1:c.1627G>T, NM_001350740.2:c.1627G>T, NM_001350740.1:c.1627G>T, NM_001350745.2:c.1345G>T, NM_001350745.1:c.1345G>T, NM_001350746.2:c.1594G>T, NM_001350746.1:c.1594G>T, XR_007060152.1:n.1631G>T, XR_007060149.1:n.1712G>T, XM_047420772.1:c.1483G>T, XM_047420775.1:c.1183G>T, XM_047420774.1:c.1183G>T, XM_047420773.1:c.1516G>T, XM_047420776.1:c.1516G>T, XR_007060148.1:n.1631G>T, XR_007060147.1:n.1712G>T, XR_007060150.1:n.1712G>T, XR_007060153.1:n.1631G>T, XR_007060151.1:n.1712G>T, XP_006716161.1:p.Ala495Ser, XP_011514838.1:p.Ala506Ser, XP_016868050.2:p.Ala532Ser, NP_872633.1:p.Ala495Ser, NP_872634.1:p.Ala506Ser, XP_011514840.1:p.Ala495Ser, XP_024302661.1:p.Ala532Ser, NP_001337672.1:p.Ala495Ser, NP_001337673.1:p.Ala495Ser, XP_024302662.1:p.Ala543Ser, NP_001337670.1:p.Ala506Ser, NP_001337671.1:p.Ala532Ser, NP_001337667.1:p.Ala495Ser, NP_001337668.1:p.Ala495Ser, NP_001265202.1:p.Ala495Ser, XP_024302663.1:p.Ala543Ser, NP_001337669.1:p.Ala543Ser, NP_001337674.1:p.Ala449Ser, NP_001337675.1:p.Ala532Ser, XP_047276728.1:p.Ala495Ser, XP_047276731.1:p.Ala395Ser, XP_047276730.1:p.Ala395Ser, XP_047276729.1:p.Ala506Ser, XP_047276732.1:p.Ala506Ser

      3.

      rs1481702844 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:105142013 (GRCh38)
        7:104782460 (GRCh37)
        Canonical SPDI:
        NC_000007.14:105142012:G:A
        Gene:
        SRPK2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.105142013G>A, NC_000007.13:g.104782460G>A, XM_006716098.4:c.1505C>T, XM_006716098.3:c.1505C>T, XM_006716098.2:c.1505C>T, XM_006716098.1:c.1505C>T, XM_011516536.4:c.1538C>T, XM_011516536.3:c.1538C>T, XM_011516536.2:c.1538C>T, XM_011516536.1:c.1538C>T, XR_001744861.3:n.1734C>T, XR_001744861.2:n.1685C>T, XR_001744861.1:n.1586C>T, XR_001744863.3:n.1734C>T, XR_001744863.2:n.1678C>T, XR_001744863.1:n.1586C>T, XM_017012561.3:c.1616C>T, XM_017012561.2:c.1616C>T, XM_017012561.1:c.1505C>T, NM_182691.3:c.1505C>T, NM_182691.2:c.1505C>T, NM_182692.3:c.1538C>T, NM_182692.2:c.1538C>T, XM_011516538.3:c.1505C>T, XM_011516538.2:c.1505C>T, XM_011516538.1:c.1505C>T, XR_001744862.3:n.1734C>T, XR_001744862.2:n.1685C>T, XR_001744862.1:n.1586C>T, XM_024446893.2:c.1616C>T, XM_024446893.1:c.1616C>T, NM_001350743.2:c.1505C>T, NM_001350743.1:c.1505C>T, NM_001350744.2:c.1505C>T, NM_001350744.1:c.1505C>T, XM_024446894.2:c.1649C>T, XM_024446894.1:c.1649C>T, NM_001350741.2:c.1538C>T, NM_001350741.1:c.1538C>T, NM_001350742.2:c.1616C>T, NM_001350742.1:c.1616C>T, NM_001350738.2:c.1505C>T, NM_001350738.1:c.1505C>T, NM_001350739.2:c.1505C>T, NM_001350739.1:c.1505C>T, NM_001278273.2:c.1505C>T, NM_001278273.1:c.1505C>T, XM_024446895.2:c.1649C>T, XM_024446895.1:c.1649C>T, NM_001350740.2:c.1649C>T, NM_001350740.1:c.1649C>T, NM_001350745.2:c.1367C>T, NM_001350745.1:c.1367C>T, NM_001350746.2:c.1616C>T, NM_001350746.1:c.1616C>T, XR_007060152.1:n.1653C>T, XR_007060149.1:n.1734C>T, XM_047420772.1:c.1505C>T, XM_047420775.1:c.1205C>T, XM_047420774.1:c.1205C>T, XM_047420773.1:c.1538C>T, XM_047420776.1:c.1538C>T, XR_007060148.1:n.1653C>T, XR_007060147.1:n.1734C>T, XR_007060150.1:n.1734C>T, XR_007060153.1:n.1653C>T, XR_007060151.1:n.1734C>T, XP_006716161.1:p.Pro502Leu, XP_011514838.1:p.Pro513Leu, XP_016868050.2:p.Pro539Leu, NP_872633.1:p.Pro502Leu, NP_872634.1:p.Pro513Leu, XP_011514840.1:p.Pro502Leu, XP_024302661.1:p.Pro539Leu, NP_001337672.1:p.Pro502Leu, NP_001337673.1:p.Pro502Leu, XP_024302662.1:p.Pro550Leu, NP_001337670.1:p.Pro513Leu, NP_001337671.1:p.Pro539Leu, NP_001337667.1:p.Pro502Leu, NP_001337668.1:p.Pro502Leu, NP_001265202.1:p.Pro502Leu, XP_024302663.1:p.Pro550Leu, NP_001337669.1:p.Pro550Leu, NP_001337674.1:p.Pro456Leu, NP_001337675.1:p.Pro539Leu, XP_047276728.1:p.Pro502Leu, XP_047276731.1:p.Pro402Leu, XP_047276730.1:p.Pro402Leu, XP_047276729.1:p.Pro513Leu, XP_047276732.1:p.Pro513Leu

        4.

        rs1480685542 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:105132885 (GRCh38)
          7:104773332 (GRCh37)
          Canonical SPDI:
          NC_000007.14:105132884:G:A
          Gene:
          SRPK2 (Varview), LOC124901717 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          HGVS:
          NC_000007.14:g.105132885G>A, NC_000007.13:g.104773332G>A, XM_006716098.4:c.1625C>T, XM_006716098.3:c.1625C>T, XM_006716098.2:c.1625C>T, XM_006716098.1:c.1625C>T, XM_011516536.4:c.1658C>T, XM_011516536.3:c.1658C>T, XM_011516536.2:c.1658C>T, XM_011516536.1:c.1658C>T, XR_001744861.3:n.1854C>T, XR_001744861.2:n.1805C>T, XR_001744861.1:n.1706C>T, XR_001744863.3:n.1854C>T, XR_001744863.2:n.1798C>T, XR_001744863.1:n.1706C>T, XM_017012561.3:c.1736C>T, XM_017012561.2:c.1736C>T, XM_017012561.1:c.1625C>T, NM_182691.3:c.1625C>T, NM_182691.2:c.1625C>T, NM_182692.3:c.1658C>T, NM_182692.2:c.1658C>T, XM_011516538.3:c.1625C>T, XM_011516538.2:c.1625C>T, XM_011516538.1:c.1625C>T, XR_001744862.3:n.1854C>T, XR_001744862.2:n.1805C>T, XR_001744862.1:n.1706C>T, XM_024446893.2:c.1736C>T, XM_024446893.1:c.1736C>T, NM_001350743.2:c.1625C>T, NM_001350743.1:c.1625C>T, NM_001350744.2:c.1625C>T, NM_001350744.1:c.1625C>T, XM_024446894.2:c.1769C>T, XM_024446894.1:c.1769C>T, NM_001350741.2:c.1658C>T, NM_001350741.1:c.1658C>T, NM_001350742.2:c.1736C>T, NM_001350742.1:c.1736C>T, NM_001350738.2:c.1625C>T, NM_001350738.1:c.1625C>T, NM_001350739.2:c.1625C>T, NM_001350739.1:c.1625C>T, NM_001278273.2:c.1625C>T, NM_001278273.1:c.1625C>T, XM_024446895.2:c.1769C>T, XM_024446895.1:c.1769C>T, NM_001350740.2:c.1769C>T, NM_001350740.1:c.1769C>T, NM_001350745.2:c.1487C>T, NM_001350745.1:c.1487C>T, NM_001350746.2:c.1736C>T, NM_001350746.1:c.1736C>T, XR_007060152.1:n.1773C>T, XR_007060149.1:n.1854C>T, XM_047420772.1:c.1625C>T, XM_047420775.1:c.1325C>T, XM_047420774.1:c.1325C>T, XM_047420773.1:c.1658C>T, XM_047420776.1:c.1658C>T, XR_007060148.1:n.1773C>T, XR_007060147.1:n.1854C>T, XR_007060150.1:n.1854C>T, XR_007060153.1:n.1773C>T, XR_007060151.1:n.1854C>T, XR_007060465.1:n.1226G>A, XP_006716161.1:p.Thr542Met, XP_011514838.1:p.Thr553Met, XP_016868050.2:p.Thr579Met, NP_872633.1:p.Thr542Met, NP_872634.1:p.Thr553Met, XP_011514840.1:p.Thr542Met, XP_024302661.1:p.Thr579Met, NP_001337672.1:p.Thr542Met, NP_001337673.1:p.Thr542Met, XP_024302662.1:p.Thr590Met, NP_001337670.1:p.Thr553Met, NP_001337671.1:p.Thr579Met, NP_001337667.1:p.Thr542Met, NP_001337668.1:p.Thr542Met, NP_001265202.1:p.Thr542Met, XP_024302663.1:p.Thr590Met, NP_001337669.1:p.Thr590Met, NP_001337674.1:p.Thr496Met, NP_001337675.1:p.Thr579Met, XP_047276728.1:p.Thr542Met, XP_047276731.1:p.Thr442Met, XP_047276730.1:p.Thr442Met, XP_047276729.1:p.Thr553Met, XP_047276732.1:p.Thr553Met

          5.

          rs1478425187 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            7:105143286 (GRCh38)
            7:104783733 (GRCh37)
            Canonical SPDI:
            NC_000007.14:105143285:T:C
            Gene:
            SRPK2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.105143286T>C, NC_000007.13:g.104783733T>C, XM_006716098.4:c.825A>G, XM_006716098.3:c.825A>G, XM_006716098.2:c.825A>G, XM_006716098.1:c.825A>G, XM_011516536.4:c.858A>G, XM_011516536.3:c.858A>G, XM_011516536.2:c.858A>G, XM_011516536.1:c.858A>G, XR_001744861.3:n.1054A>G, XR_001744861.2:n.1005A>G, XR_001744861.1:n.906A>G, XR_001744863.3:n.1054A>G, XR_001744863.2:n.998A>G, XR_001744863.1:n.906A>G, XM_017012561.3:c.936A>G, XM_017012561.2:c.936A>G, XM_017012561.1:c.825A>G, NM_182691.3:c.825A>G, NM_182691.2:c.825A>G, NM_182692.3:c.858A>G, NM_182692.2:c.858A>G, XM_011516538.3:c.825A>G, XM_011516538.2:c.825A>G, XM_011516538.1:c.825A>G, XR_001744862.3:n.1054A>G, XR_001744862.2:n.1005A>G, XR_001744862.1:n.906A>G, XM_024446893.2:c.936A>G, XM_024446893.1:c.936A>G, NM_001350743.2:c.825A>G, NM_001350743.1:c.825A>G, NM_001350744.2:c.825A>G, NM_001350744.1:c.825A>G, XM_024446894.2:c.969A>G, XM_024446894.1:c.969A>G, NM_001350741.2:c.858A>G, NM_001350741.1:c.858A>G, NM_001350742.2:c.936A>G, NM_001350742.1:c.936A>G, NM_001350738.2:c.825A>G, NM_001350738.1:c.825A>G, NM_001350739.2:c.825A>G, NM_001350739.1:c.825A>G, NM_001278273.2:c.825A>G, NM_001278273.1:c.825A>G, XM_024446895.2:c.969A>G, XM_024446895.1:c.969A>G, NM_001350740.2:c.969A>G, NM_001350740.1:c.969A>G, NM_001350745.2:c.687A>G, NM_001350745.1:c.687A>G, NM_001350746.2:c.936A>G, NM_001350746.1:c.936A>G, XR_007060152.1:n.973A>G, XR_007060149.1:n.1054A>G, XM_047420772.1:c.825A>G, XM_047420775.1:c.525A>G, XM_047420774.1:c.525A>G, XM_047420773.1:c.858A>G, XM_047420776.1:c.858A>G, XR_007060148.1:n.973A>G, XR_007060147.1:n.1054A>G, XR_007060150.1:n.1054A>G, XR_007060153.1:n.973A>G, XR_007060151.1:n.1054A>G

            6.

            rs1473726205 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:105142459 (GRCh38)
              7:104782906 (GRCh37)
              Canonical SPDI:
              NC_000007.14:105142458:A:G
              Gene:
              SRPK2 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000007.14:g.105142459A>G, NC_000007.13:g.104782906A>G, XM_006716098.4:c.1059T>C, XM_006716098.3:c.1059T>C, XM_006716098.2:c.1059T>C, XM_006716098.1:c.1059T>C, XM_011516536.4:c.1092T>C, XM_011516536.3:c.1092T>C, XM_011516536.2:c.1092T>C, XM_011516536.1:c.1092T>C, XR_001744861.3:n.1288T>C, XR_001744861.2:n.1239T>C, XR_001744861.1:n.1140T>C, XR_001744863.3:n.1288T>C, XR_001744863.2:n.1232T>C, XR_001744863.1:n.1140T>C, XM_017012561.3:c.1170T>C, XM_017012561.2:c.1170T>C, XM_017012561.1:c.1059T>C, NM_182691.3:c.1059T>C, NM_182691.2:c.1059T>C, NM_182692.3:c.1092T>C, NM_182692.2:c.1092T>C, XM_011516538.3:c.1059T>C, XM_011516538.2:c.1059T>C, XM_011516538.1:c.1059T>C, XR_001744862.3:n.1288T>C, XR_001744862.2:n.1239T>C, XR_001744862.1:n.1140T>C, XM_024446893.2:c.1170T>C, XM_024446893.1:c.1170T>C, NM_001350743.2:c.1059T>C, NM_001350743.1:c.1059T>C, NM_001350744.2:c.1059T>C, NM_001350744.1:c.1059T>C, XM_024446894.2:c.1203T>C, XM_024446894.1:c.1203T>C, NM_001350741.2:c.1092T>C, NM_001350741.1:c.1092T>C, NM_001350742.2:c.1170T>C, NM_001350742.1:c.1170T>C, NM_001350738.2:c.1059T>C, NM_001350738.1:c.1059T>C, NM_001350739.2:c.1059T>C, NM_001350739.1:c.1059T>C, NM_001278273.2:c.1059T>C, NM_001278273.1:c.1059T>C, XM_024446895.2:c.1203T>C, XM_024446895.1:c.1203T>C, NM_001350740.2:c.1203T>C, NM_001350740.1:c.1203T>C, NM_001350745.2:c.921T>C, NM_001350745.1:c.921T>C, NM_001350746.2:c.1170T>C, NM_001350746.1:c.1170T>C, XR_007060152.1:n.1207T>C, XR_007060149.1:n.1288T>C, XM_047420772.1:c.1059T>C, XM_047420775.1:c.759T>C, XM_047420774.1:c.759T>C, XM_047420773.1:c.1092T>C, XM_047420776.1:c.1092T>C, XR_007060148.1:n.1207T>C, XR_007060147.1:n.1288T>C, XR_007060150.1:n.1288T>C, XR_007060153.1:n.1207T>C, XR_007060151.1:n.1288T>C

              7.

              rs1470652740 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->AGGTTCTAA [Show Flanks]
                Chromosome:
                7:105142125 (GRCh38)
                7:104782573 (GRCh37)
                Canonical SPDI:
                NC_000007.14:105142125:AGGTTCTAA:AGGTTCTAAAGGTTCTAA
                Gene:
                SRPK2 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
                Validated:
                by frequency,by alfa
                MAF:
                AGGTTCTAAAGGTTCTAA=0./0 (ALFA)
                HGVS:
                NC_000007.14:g.105142126_105142134dup, NC_000007.13:g.104782573_104782581dup, XM_006716098.4:c.1384_1392dup, XM_006716098.3:c.1384_1392dup, XM_006716098.2:c.1384_1392dup, XM_006716098.1:c.1384_1392dup, XM_011516536.4:c.1417_1425dup, XM_011516536.3:c.1417_1425dup, XM_011516536.2:c.1417_1425dup, XM_011516536.1:c.1417_1425dup, XR_001744861.3:n.1613_1621dup, XR_001744861.2:n.1564_1572dup, XR_001744861.1:n.1465_1473dup, XR_001744863.3:n.1613_1621dup, XR_001744863.2:n.1557_1565dup, XR_001744863.1:n.1465_1473dup, XM_017012561.3:c.1495_1503dup, XM_017012561.2:c.1495_1503dup, XM_017012561.1:c.1384_1392dup, NM_182691.3:c.1384_1392dup, NM_182691.2:c.1384_1392dup, NM_182692.3:c.1417_1425dup, NM_182692.2:c.1417_1425dup, XM_011516538.3:c.1384_1392dup, XM_011516538.2:c.1384_1392dup, XM_011516538.1:c.1384_1392dup, XR_001744862.3:n.1613_1621dup, XR_001744862.2:n.1564_1572dup, XR_001744862.1:n.1465_1473dup, XM_024446893.2:c.1495_1503dup, XM_024446893.1:c.1495_1503dup, NM_001350743.2:c.1384_1392dup, NM_001350743.1:c.1384_1392dup, NM_001350744.2:c.1384_1392dup, NM_001350744.1:c.1384_1392dup, XM_024446894.2:c.1528_1536dup, XM_024446894.1:c.1528_1536dup, NM_001350741.2:c.1417_1425dup, NM_001350741.1:c.1417_1425dup, NM_001350742.2:c.1495_1503dup, NM_001350742.1:c.1495_1503dup, NM_001350738.2:c.1384_1392dup, NM_001350738.1:c.1384_1392dup, NM_001350739.2:c.1384_1392dup, NM_001350739.1:c.1384_1392dup, NM_001278273.2:c.1384_1392dup, NM_001278273.1:c.1384_1392dup, XM_024446895.2:c.1528_1536dup, XM_024446895.1:c.1528_1536dup, NM_001350740.2:c.1528_1536dup, NM_001350740.1:c.1528_1536dup, NM_001350745.2:c.1246_1254dup, NM_001350745.1:c.1246_1254dup, NM_001350746.2:c.1495_1503dup, NM_001350746.1:c.1495_1503dup, XR_007060152.1:n.1532_1540dup, XR_007060149.1:n.1613_1621dup, XM_047420772.1:c.1384_1392dup, XM_047420775.1:c.1084_1092dup, XM_047420774.1:c.1084_1092dup, XM_047420773.1:c.1417_1425dup, XM_047420776.1:c.1417_1425dup, XR_007060148.1:n.1532_1540dup, XR_007060147.1:n.1613_1621dup, XR_007060150.1:n.1613_1621dup, XR_007060153.1:n.1532_1540dup, XR_007060151.1:n.1613_1621dup, XP_006716161.1:p.Leu462_Pro464dup, XP_011514838.1:p.Leu473_Pro475dup, XP_016868050.2:p.Leu499_Pro501dup, NP_872633.1:p.Leu462_Pro464dup, NP_872634.1:p.Leu473_Pro475dup, XP_011514840.1:p.Leu462_Pro464dup, XP_024302661.1:p.Leu499_Pro501dup, NP_001337672.1:p.Leu462_Pro464dup, NP_001337673.1:p.Leu462_Pro464dup, XP_024302662.1:p.Leu510_Pro512dup, NP_001337670.1:p.Leu473_Pro475dup, NP_001337671.1:p.Leu499_Pro501dup, NP_001337667.1:p.Leu462_Pro464dup, NP_001337668.1:p.Leu462_Pro464dup, NP_001265202.1:p.Leu462_Pro464dup, XP_024302663.1:p.Leu510_Pro512dup, NP_001337669.1:p.Leu510_Pro512dup, NP_001337674.1:p.Leu416_Pro418dup, NP_001337675.1:p.Leu499_Pro501dup, XP_047276728.1:p.Leu462_Pro464dup, XP_047276731.1:p.Leu362_Pro364dup, XP_047276730.1:p.Leu362_Pro364dup, XP_047276729.1:p.Leu473_Pro475dup, XP_047276732.1:p.Leu473_Pro475dup

                8.

                rs1470036916 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  7:105142387 (GRCh38)
                  7:104782834 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:105142386:C:A
                  Gene:
                  SRPK2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000007.14:g.105142387C>A, NC_000007.13:g.104782834C>A, XM_006716098.4:c.1131G>T, XM_006716098.3:c.1131G>T, XM_006716098.2:c.1131G>T, XM_006716098.1:c.1131G>T, XM_011516536.4:c.1164G>T, XM_011516536.3:c.1164G>T, XM_011516536.2:c.1164G>T, XM_011516536.1:c.1164G>T, XR_001744861.3:n.1360G>T, XR_001744861.2:n.1311G>T, XR_001744861.1:n.1212G>T, XR_001744863.3:n.1360G>T, XR_001744863.2:n.1304G>T, XR_001744863.1:n.1212G>T, XM_017012561.3:c.1242G>T, XM_017012561.2:c.1242G>T, XM_017012561.1:c.1131G>T, NM_182691.3:c.1131G>T, NM_182691.2:c.1131G>T, NM_182692.3:c.1164G>T, NM_182692.2:c.1164G>T, XM_011516538.3:c.1131G>T, XM_011516538.2:c.1131G>T, XM_011516538.1:c.1131G>T, XR_001744862.3:n.1360G>T, XR_001744862.2:n.1311G>T, XR_001744862.1:n.1212G>T, XM_024446893.2:c.1242G>T, XM_024446893.1:c.1242G>T, NM_001350743.2:c.1131G>T, NM_001350743.1:c.1131G>T, NM_001350744.2:c.1131G>T, NM_001350744.1:c.1131G>T, XM_024446894.2:c.1275G>T, XM_024446894.1:c.1275G>T, NM_001350741.2:c.1164G>T, NM_001350741.1:c.1164G>T, NM_001350742.2:c.1242G>T, NM_001350742.1:c.1242G>T, NM_001350738.2:c.1131G>T, NM_001350738.1:c.1131G>T, NM_001350739.2:c.1131G>T, NM_001350739.1:c.1131G>T, NM_001278273.2:c.1131G>T, NM_001278273.1:c.1131G>T, XM_024446895.2:c.1275G>T, XM_024446895.1:c.1275G>T, NM_001350740.2:c.1275G>T, NM_001350740.1:c.1275G>T, NM_001350745.2:c.993G>T, NM_001350745.1:c.993G>T, NM_001350746.2:c.1242G>T, NM_001350746.1:c.1242G>T, XR_007060152.1:n.1279G>T, XR_007060149.1:n.1360G>T, XM_047420772.1:c.1131G>T, XM_047420775.1:c.831G>T, XM_047420774.1:c.831G>T, XM_047420773.1:c.1164G>T, XM_047420776.1:c.1164G>T, XR_007060148.1:n.1279G>T, XR_007060147.1:n.1360G>T, XR_007060150.1:n.1360G>T, XR_007060153.1:n.1279G>T, XR_007060151.1:n.1360G>T, XP_006716161.1:p.Trp377Cys, XP_011514838.1:p.Trp388Cys, XP_016868050.2:p.Trp414Cys, NP_872633.1:p.Trp377Cys, NP_872634.1:p.Trp388Cys, XP_011514840.1:p.Trp377Cys, XP_024302661.1:p.Trp414Cys, NP_001337672.1:p.Trp377Cys, NP_001337673.1:p.Trp377Cys, XP_024302662.1:p.Trp425Cys, NP_001337670.1:p.Trp388Cys, NP_001337671.1:p.Trp414Cys, NP_001337667.1:p.Trp377Cys, NP_001337668.1:p.Trp377Cys, NP_001265202.1:p.Trp377Cys, XP_024302663.1:p.Trp425Cys, NP_001337669.1:p.Trp425Cys, NP_001337674.1:p.Trp331Cys, NP_001337675.1:p.Trp414Cys, XP_047276728.1:p.Trp377Cys, XP_047276731.1:p.Trp277Cys, XP_047276730.1:p.Trp277Cys, XP_047276729.1:p.Trp388Cys, XP_047276732.1:p.Trp388Cys

                  9.

                  rs1468635464 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:105203783 (GRCh38)
                    7:104844230 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:105203782:G:A
                    Gene:
                    SRPK2 (Varview), LOC124901718 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000007.14:g.105203783G>A, NC_000007.13:g.104844230G>A, XM_006716098.4:c.41C>T, XM_006716098.3:c.41C>T, XM_006716098.2:c.41C>T, XM_006716098.1:c.41C>T, XM_011516536.4:c.74C>T, XM_011516536.3:c.74C>T, XM_011516536.2:c.74C>T, XM_011516536.1:c.74C>T, XR_001744861.3:n.270C>T, XR_001744861.2:n.221C>T, XR_001744861.1:n.122C>T, XR_001744863.3:n.270C>T, XR_001744863.2:n.214C>T, XR_001744863.1:n.122C>T, XM_017012561.3:c.152C>T, XM_017012561.2:c.152C>T, XM_017012561.1:c.41C>T, NM_182691.3:c.41C>T, NM_182691.2:c.41C>T, NM_182692.3:c.74C>T, NM_182692.2:c.74C>T, XM_011516538.3:c.41C>T, XM_011516538.2:c.41C>T, XM_011516538.1:c.41C>T, XR_001744862.3:n.270C>T, XR_001744862.2:n.221C>T, XR_001744862.1:n.122C>T, XM_024446893.2:c.152C>T, XM_024446893.1:c.152C>T, NM_001350743.2:c.41C>T, NM_001350743.1:c.41C>T, NM_001350744.2:c.41C>T, NM_001350744.1:c.41C>T, XM_024446894.2:c.185C>T, XM_024446894.1:c.185C>T, NM_001350741.2:c.74C>T, NM_001350741.1:c.74C>T, NM_001350742.2:c.152C>T, NM_001350742.1:c.152C>T, NM_001350738.2:c.41C>T, NM_001350738.1:c.41C>T, NM_001350739.2:c.41C>T, NM_001350739.1:c.41C>T, NM_001278273.2:c.41C>T, NM_001278273.1:c.41C>T, XM_024446895.2:c.185C>T, XM_024446895.1:c.185C>T, NM_001350740.2:c.185C>T, NM_001350740.1:c.185C>T, NM_001350745.2:c.41C>T, NM_001350745.1:c.41C>T, NM_001350746.2:c.152C>T, NM_001350746.1:c.152C>T, XR_007060152.1:n.189C>T, XR_007060149.1:n.270C>T, XM_047420772.1:c.41C>T, XM_047420775.1:c.-260C>T, XM_047420774.1:c.-260C>T, XM_047420773.1:c.74C>T, XM_047420776.1:c.74C>T, XR_007060148.1:n.189C>T, XR_007060147.1:n.270C>T, XR_007060150.1:n.270C>T, XR_007060153.1:n.189C>T, XR_007060151.1:n.270C>T, XP_006716161.1:p.Pro14Leu, XP_011514838.1:p.Pro25Leu, XP_016868050.2:p.Pro51Leu, NP_872633.1:p.Pro14Leu, NP_872634.1:p.Pro25Leu, XP_011514840.1:p.Pro14Leu, XP_024302661.1:p.Pro51Leu, NP_001337672.1:p.Pro14Leu, NP_001337673.1:p.Pro14Leu, XP_024302662.1:p.Pro62Leu, NP_001337670.1:p.Pro25Leu, NP_001337671.1:p.Pro51Leu, NP_001337667.1:p.Pro14Leu, NP_001337668.1:p.Pro14Leu, NP_001265202.1:p.Pro14Leu, XP_024302663.1:p.Pro62Leu, NP_001337669.1:p.Pro62Leu, NP_001337674.1:p.Pro14Leu, NP_001337675.1:p.Pro51Leu, XP_047276728.1:p.Pro14Leu, XP_047276729.1:p.Pro25Leu, XP_047276732.1:p.Pro25Leu

                    10.

                    rs1468321619 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:105126253 (GRCh38)
                      7:104766700 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:105126252:C:T
                      Gene:
                      SRPK2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000007.14:g.105126253C>T, NC_000007.13:g.104766700C>T, XM_006716098.4:c.1877G>A, XM_006716098.3:c.1877G>A, XM_006716098.2:c.1877G>A, XM_006716098.1:c.1877G>A, XM_011516536.4:c.1910G>A, XM_011516536.3:c.1910G>A, XM_011516536.2:c.1910G>A, XM_011516536.1:c.1910G>A, XR_001744861.3:n.2106G>A, XR_001744861.2:n.2057G>A, XR_001744861.1:n.1958G>A, XR_001744863.3:n.2106G>A, XR_001744863.2:n.2050G>A, XR_001744863.1:n.1958G>A, NM_182691.3:c.1877G>A, NM_182691.2:c.1877G>A, NM_182692.3:c.1910G>A, NM_182692.2:c.1910G>A, XM_011516538.3:c.1877G>A, XM_011516538.2:c.1877G>A, XM_011516538.1:c.1877G>A, XR_001744862.3:n.2106G>A, XR_001744862.2:n.2057G>A, XR_001744862.1:n.1958G>A, XM_024446893.2:c.1988G>A, XM_024446893.1:c.1988G>A, NM_001350743.2:c.1877G>A, NM_001350743.1:c.1877G>A, NM_001350744.2:c.1877G>A, NM_001350744.1:c.1877G>A, XM_024446894.2:c.2021G>A, XM_024446894.1:c.2021G>A, NM_001350741.2:c.1910G>A, NM_001350741.1:c.1910G>A, NM_001350742.2:c.1988G>A, NM_001350742.1:c.1988G>A, NM_001350738.2:c.1877G>A, NM_001350738.1:c.1877G>A, NM_001278273.2:c.1877G>A, NM_001278273.1:c.1877G>A, NM_001350740.2:c.2021G>A, NM_001350740.1:c.2021G>A, NM_001350745.2:c.1739G>A, NM_001350745.1:c.1739G>A, XR_007060152.1:n.2025G>A, XM_047420772.1:c.1877G>A, XM_047420775.1:c.1577G>A, XM_047420774.1:c.1577G>A, XR_007060148.1:n.2025G>A, XR_007060147.1:n.2106G>A, XP_006716161.1:p.Arg626His, XP_011514838.1:p.Arg637His, NP_872633.1:p.Arg626His, NP_872634.1:p.Arg637His, XP_011514840.1:p.Arg626His, XP_024302661.1:p.Arg663His, NP_001337672.1:p.Arg626His, NP_001337673.1:p.Arg626His, XP_024302662.1:p.Arg674His, NP_001337670.1:p.Arg637His, NP_001337671.1:p.Arg663His, NP_001337667.1:p.Arg626His, NP_001265202.1:p.Arg626His, NP_001337669.1:p.Arg674His, NP_001337674.1:p.Arg580His, XP_047276728.1:p.Arg626His, XP_047276731.1:p.Arg526His, XP_047276730.1:p.Arg526His

                      11.

                      rs1468071434 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        7:105167429 (GRCh38)
                        7:104807876 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:105167428:G:A
                        Gene:
                        SRPK2 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000007.14:g.105167429G>A, NC_000007.13:g.104807876G>A, XM_006716098.4:c.429C>T, XM_006716098.3:c.429C>T, XM_006716098.2:c.429C>T, XM_006716098.1:c.429C>T, XM_011516536.4:c.462C>T, XM_011516536.3:c.462C>T, XM_011516536.2:c.462C>T, XM_011516536.1:c.462C>T, XR_001744861.3:n.658C>T, XR_001744861.2:n.609C>T, XR_001744861.1:n.510C>T, XR_001744863.3:n.658C>T, XR_001744863.2:n.602C>T, XR_001744863.1:n.510C>T, XM_017012561.3:c.540C>T, XM_017012561.2:c.540C>T, XM_017012561.1:c.429C>T, NM_182691.3:c.429C>T, NM_182691.2:c.429C>T, NM_182692.3:c.462C>T, NM_182692.2:c.462C>T, XM_011516538.3:c.429C>T, XM_011516538.2:c.429C>T, XM_011516538.1:c.429C>T, XR_001744862.3:n.658C>T, XR_001744862.2:n.609C>T, XR_001744862.1:n.510C>T, XM_024446893.2:c.540C>T, XM_024446893.1:c.540C>T, NM_001350743.2:c.429C>T, NM_001350743.1:c.429C>T, NM_001350744.2:c.429C>T, NM_001350744.1:c.429C>T, XM_024446894.2:c.573C>T, XM_024446894.1:c.573C>T, NM_001350741.2:c.462C>T, NM_001350741.1:c.462C>T, NM_001350742.2:c.540C>T, NM_001350742.1:c.540C>T, NM_001350738.2:c.429C>T, NM_001350738.1:c.429C>T, NM_001350739.2:c.429C>T, NM_001350739.1:c.429C>T, NM_001278273.2:c.429C>T, NM_001278273.1:c.429C>T, XM_024446895.2:c.573C>T, XM_024446895.1:c.573C>T, NM_001350740.2:c.573C>T, NM_001350740.1:c.573C>T, NM_001350745.2:c.429C>T, NM_001350745.1:c.429C>T, NM_001350746.2:c.540C>T, NM_001350746.1:c.540C>T, XR_007060152.1:n.577C>T, XR_007060149.1:n.658C>T, XM_047420772.1:c.429C>T, XM_047420775.1:c.129C>T, XM_047420774.1:c.129C>T, XM_047420773.1:c.462C>T, XM_047420776.1:c.462C>T, XR_007060148.1:n.577C>T, XR_007060147.1:n.658C>T, XR_007060150.1:n.658C>T, XR_007060153.1:n.577C>T, XR_007060151.1:n.658C>T

                        12.

                        rs1466837511 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          7:105203688 (GRCh38)
                          7:104844135 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:105203687:C:G,NC_000007.14:105203687:C:T
                          Gene:
                          SRPK2 (Varview), LOC124901718 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.105203688C>G, NC_000007.14:g.105203688C>T, NC_000007.13:g.104844135C>G, NC_000007.13:g.104844135C>T, XM_006716098.4:c.136G>C, XM_006716098.4:c.136G>A, XM_006716098.3:c.136G>C, XM_006716098.3:c.136G>A, XM_006716098.2:c.136G>C, XM_006716098.2:c.136G>A, XM_006716098.1:c.136G>C, XM_006716098.1:c.136G>A, XM_011516536.4:c.169G>C, XM_011516536.4:c.169G>A, XM_011516536.3:c.169G>C, XM_011516536.3:c.169G>A, XM_011516536.2:c.169G>C, XM_011516536.2:c.169G>A, XM_011516536.1:c.169G>C, XM_011516536.1:c.169G>A, XR_001744861.3:n.365G>C, XR_001744861.3:n.365G>A, XR_001744861.2:n.316G>C, XR_001744861.2:n.316G>A, XR_001744861.1:n.217G>C, XR_001744861.1:n.217G>A, XR_001744863.3:n.365G>C, XR_001744863.3:n.365G>A, XR_001744863.2:n.309G>C, XR_001744863.2:n.309G>A, XR_001744863.1:n.217G>C, XR_001744863.1:n.217G>A, XM_017012561.3:c.247G>C, XM_017012561.3:c.247G>A, XM_017012561.2:c.247G>C, XM_017012561.2:c.247G>A, XM_017012561.1:c.136G>C, XM_017012561.1:c.136G>A, NM_182691.3:c.136G>C, NM_182691.3:c.136G>A, NM_182691.2:c.136G>C, NM_182691.2:c.136G>A, NM_182692.3:c.169G>C, NM_182692.3:c.169G>A, NM_182692.2:c.169G>C, NM_182692.2:c.169G>A, XM_011516538.3:c.136G>C, XM_011516538.3:c.136G>A, XM_011516538.2:c.136G>C, XM_011516538.2:c.136G>A, XM_011516538.1:c.136G>C, XM_011516538.1:c.136G>A, XR_001744862.3:n.365G>C, XR_001744862.3:n.365G>A, XR_001744862.2:n.316G>C, XR_001744862.2:n.316G>A, XR_001744862.1:n.217G>C, XR_001744862.1:n.217G>A, XM_024446893.2:c.247G>C, XM_024446893.2:c.247G>A, XM_024446893.1:c.247G>C, XM_024446893.1:c.247G>A, NM_001350743.2:c.136G>C, NM_001350743.2:c.136G>A, NM_001350743.1:c.136G>C, NM_001350743.1:c.136G>A, NM_001350744.2:c.136G>C, NM_001350744.2:c.136G>A, NM_001350744.1:c.136G>C, NM_001350744.1:c.136G>A, XM_024446894.2:c.280G>C, XM_024446894.2:c.280G>A, XM_024446894.1:c.280G>C, XM_024446894.1:c.280G>A, NM_001350741.2:c.169G>C, NM_001350741.2:c.169G>A, NM_001350741.1:c.169G>C, NM_001350741.1:c.169G>A, NM_001350742.2:c.247G>C, NM_001350742.2:c.247G>A, NM_001350742.1:c.247G>C, NM_001350742.1:c.247G>A, NM_001350738.2:c.136G>C, NM_001350738.2:c.136G>A, NM_001350738.1:c.136G>C, NM_001350738.1:c.136G>A, NM_001350739.2:c.136G>C, NM_001350739.2:c.136G>A, NM_001350739.1:c.136G>C, NM_001350739.1:c.136G>A, NM_001278273.2:c.136G>C, NM_001278273.2:c.136G>A, NM_001278273.1:c.136G>C, NM_001278273.1:c.136G>A, XM_024446895.2:c.280G>C, XM_024446895.2:c.280G>A, XM_024446895.1:c.280G>C, XM_024446895.1:c.280G>A, NM_001350740.2:c.280G>C, NM_001350740.2:c.280G>A, NM_001350740.1:c.280G>C, NM_001350740.1:c.280G>A, NM_001350745.2:c.136G>C, NM_001350745.2:c.136G>A, NM_001350745.1:c.136G>C, NM_001350745.1:c.136G>A, NM_001350746.2:c.247G>C, NM_001350746.2:c.247G>A, NM_001350746.1:c.247G>C, NM_001350746.1:c.247G>A, XR_007060152.1:n.284G>C, XR_007060152.1:n.284G>A, XR_007060149.1:n.365G>C, XR_007060149.1:n.365G>A, XM_047420772.1:c.136G>C, XM_047420772.1:c.136G>A, XM_047420775.1:c.-165G>C, XM_047420775.1:c.-165G>A, XM_047420774.1:c.-165G>C, XM_047420774.1:c.-165G>A, XM_047420773.1:c.169G>C, XM_047420773.1:c.169G>A, XM_047420776.1:c.169G>C, XM_047420776.1:c.169G>A, XR_007060148.1:n.284G>C, XR_007060148.1:n.284G>A, XR_007060147.1:n.365G>C, XR_007060147.1:n.365G>A, XR_007060150.1:n.365G>C, XR_007060150.1:n.365G>A, XR_007060153.1:n.284G>C, XR_007060153.1:n.284G>A, XR_007060151.1:n.365G>C, XR_007060151.1:n.365G>A, XP_006716161.1:p.Glu46Gln, XP_006716161.1:p.Glu46Lys, XP_011514838.1:p.Glu57Gln, XP_011514838.1:p.Glu57Lys, XP_016868050.2:p.Glu83Gln, XP_016868050.2:p.Glu83Lys, NP_872633.1:p.Glu46Gln, NP_872633.1:p.Glu46Lys, NP_872634.1:p.Glu57Gln, NP_872634.1:p.Glu57Lys, XP_011514840.1:p.Glu46Gln, XP_011514840.1:p.Glu46Lys, XP_024302661.1:p.Glu83Gln, XP_024302661.1:p.Glu83Lys, NP_001337672.1:p.Glu46Gln, NP_001337672.1:p.Glu46Lys, NP_001337673.1:p.Glu46Gln, NP_001337673.1:p.Glu46Lys, XP_024302662.1:p.Glu94Gln, XP_024302662.1:p.Glu94Lys, NP_001337670.1:p.Glu57Gln, NP_001337670.1:p.Glu57Lys, NP_001337671.1:p.Glu83Gln, NP_001337671.1:p.Glu83Lys, NP_001337667.1:p.Glu46Gln, NP_001337667.1:p.Glu46Lys, NP_001337668.1:p.Glu46Gln, NP_001337668.1:p.Glu46Lys, NP_001265202.1:p.Glu46Gln, NP_001265202.1:p.Glu46Lys, XP_024302663.1:p.Glu94Gln, XP_024302663.1:p.Glu94Lys, NP_001337669.1:p.Glu94Gln, NP_001337669.1:p.Glu94Lys, NP_001337674.1:p.Glu46Gln, NP_001337674.1:p.Glu46Lys, NP_001337675.1:p.Glu83Gln, NP_001337675.1:p.Glu83Lys, XP_047276728.1:p.Glu46Gln, XP_047276728.1:p.Glu46Lys, XP_047276729.1:p.Glu57Gln, XP_047276729.1:p.Glu57Lys, XP_047276732.1:p.Glu57Gln, XP_047276732.1:p.Glu57Lys

                          13.

                          rs1466770016 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            7:105142147 (GRCh38)
                            7:104782594 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:105142146:C:A
                            Gene:
                            SRPK2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000007.14:g.105142147C>A, NC_000007.13:g.104782594C>A, XM_006716098.4:c.1371G>T, XM_006716098.3:c.1371G>T, XM_006716098.2:c.1371G>T, XM_006716098.1:c.1371G>T, XM_011516536.4:c.1404G>T, XM_011516536.3:c.1404G>T, XM_011516536.2:c.1404G>T, XM_011516536.1:c.1404G>T, XR_001744861.3:n.1600G>T, XR_001744861.2:n.1551G>T, XR_001744861.1:n.1452G>T, XR_001744863.3:n.1600G>T, XR_001744863.2:n.1544G>T, XR_001744863.1:n.1452G>T, XM_017012561.3:c.1482G>T, XM_017012561.2:c.1482G>T, XM_017012561.1:c.1371G>T, NM_182691.3:c.1371G>T, NM_182691.2:c.1371G>T, NM_182692.3:c.1404G>T, NM_182692.2:c.1404G>T, XM_011516538.3:c.1371G>T, XM_011516538.2:c.1371G>T, XM_011516538.1:c.1371G>T, XR_001744862.3:n.1600G>T, XR_001744862.2:n.1551G>T, XR_001744862.1:n.1452G>T, XM_024446893.2:c.1482G>T, XM_024446893.1:c.1482G>T, NM_001350743.2:c.1371G>T, NM_001350743.1:c.1371G>T, NM_001350744.2:c.1371G>T, NM_001350744.1:c.1371G>T, XM_024446894.2:c.1515G>T, XM_024446894.1:c.1515G>T, NM_001350741.2:c.1404G>T, NM_001350741.1:c.1404G>T, NM_001350742.2:c.1482G>T, NM_001350742.1:c.1482G>T, NM_001350738.2:c.1371G>T, NM_001350738.1:c.1371G>T, NM_001350739.2:c.1371G>T, NM_001350739.1:c.1371G>T, NM_001278273.2:c.1371G>T, NM_001278273.1:c.1371G>T, XM_024446895.2:c.1515G>T, XM_024446895.1:c.1515G>T, NM_001350740.2:c.1515G>T, NM_001350740.1:c.1515G>T, NM_001350745.2:c.1233G>T, NM_001350745.1:c.1233G>T, NM_001350746.2:c.1482G>T, NM_001350746.1:c.1482G>T, XR_007060152.1:n.1519G>T, XR_007060149.1:n.1600G>T, XM_047420772.1:c.1371G>T, XM_047420775.1:c.1071G>T, XM_047420774.1:c.1071G>T, XM_047420773.1:c.1404G>T, XM_047420776.1:c.1404G>T, XR_007060148.1:n.1519G>T, XR_007060147.1:n.1600G>T, XR_007060150.1:n.1600G>T, XR_007060153.1:n.1519G>T, XR_007060151.1:n.1600G>T, XP_006716161.1:p.Leu457Phe, XP_011514838.1:p.Leu468Phe, XP_016868050.2:p.Leu494Phe, NP_872633.1:p.Leu457Phe, NP_872634.1:p.Leu468Phe, XP_011514840.1:p.Leu457Phe, XP_024302661.1:p.Leu494Phe, NP_001337672.1:p.Leu457Phe, NP_001337673.1:p.Leu457Phe, XP_024302662.1:p.Leu505Phe, NP_001337670.1:p.Leu468Phe, NP_001337671.1:p.Leu494Phe, NP_001337667.1:p.Leu457Phe, NP_001337668.1:p.Leu457Phe, NP_001265202.1:p.Leu457Phe, XP_024302663.1:p.Leu505Phe, NP_001337669.1:p.Leu505Phe, NP_001337674.1:p.Leu411Phe, NP_001337675.1:p.Leu494Phe, XP_047276728.1:p.Leu457Phe, XP_047276731.1:p.Leu357Phe, XP_047276730.1:p.Leu357Phe, XP_047276729.1:p.Leu468Phe, XP_047276732.1:p.Leu468Phe

                            14.

                            rs1466308306 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              7:105167378 (GRCh38)
                              7:104807825 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:105167377:T:C,NC_000007.14:105167377:T:G
                              Gene:
                              SRPK2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000007.14:g.105167378T>C, NC_000007.14:g.105167378T>G, NC_000007.13:g.104807825T>C, NC_000007.13:g.104807825T>G, XM_006716098.4:c.480A>G, XM_006716098.4:c.480A>C, XM_006716098.3:c.480A>G, XM_006716098.3:c.480A>C, XM_006716098.2:c.480A>G, XM_006716098.2:c.480A>C, XM_006716098.1:c.480A>G, XM_006716098.1:c.480A>C, XM_011516536.4:c.513A>G, XM_011516536.4:c.513A>C, XM_011516536.3:c.513A>G, XM_011516536.3:c.513A>C, XM_011516536.2:c.513A>G, XM_011516536.2:c.513A>C, XM_011516536.1:c.513A>G, XM_011516536.1:c.513A>C, XR_001744861.3:n.709A>G, XR_001744861.3:n.709A>C, XR_001744861.2:n.660A>G, XR_001744861.2:n.660A>C, XR_001744861.1:n.561A>G, XR_001744861.1:n.561A>C, XR_001744863.3:n.709A>G, XR_001744863.3:n.709A>C, XR_001744863.2:n.653A>G, XR_001744863.2:n.653A>C, XR_001744863.1:n.561A>G, XR_001744863.1:n.561A>C, XM_017012561.3:c.591A>G, XM_017012561.3:c.591A>C, XM_017012561.2:c.591A>G, XM_017012561.2:c.591A>C, XM_017012561.1:c.480A>G, XM_017012561.1:c.480A>C, NM_182691.3:c.480A>G, NM_182691.3:c.480A>C, NM_182691.2:c.480A>G, NM_182691.2:c.480A>C, NM_182692.3:c.513A>G, NM_182692.3:c.513A>C, NM_182692.2:c.513A>G, NM_182692.2:c.513A>C, XM_011516538.3:c.480A>G, XM_011516538.3:c.480A>C, XM_011516538.2:c.480A>G, XM_011516538.2:c.480A>C, XM_011516538.1:c.480A>G, XM_011516538.1:c.480A>C, XR_001744862.3:n.709A>G, XR_001744862.3:n.709A>C, XR_001744862.2:n.660A>G, XR_001744862.2:n.660A>C, XR_001744862.1:n.561A>G, XR_001744862.1:n.561A>C, XM_024446893.2:c.591A>G, XM_024446893.2:c.591A>C, XM_024446893.1:c.591A>G, XM_024446893.1:c.591A>C, NM_001350743.2:c.480A>G, NM_001350743.2:c.480A>C, NM_001350743.1:c.480A>G, NM_001350743.1:c.480A>C, NM_001350744.2:c.480A>G, NM_001350744.2:c.480A>C, NM_001350744.1:c.480A>G, NM_001350744.1:c.480A>C, XM_024446894.2:c.624A>G, XM_024446894.2:c.624A>C, XM_024446894.1:c.624A>G, XM_024446894.1:c.624A>C, NM_001350741.2:c.513A>G, NM_001350741.2:c.513A>C, NM_001350741.1:c.513A>G, NM_001350741.1:c.513A>C, NM_001350742.2:c.591A>G, NM_001350742.2:c.591A>C, NM_001350742.1:c.591A>G, NM_001350742.1:c.591A>C, NM_001350738.2:c.480A>G, NM_001350738.2:c.480A>C, NM_001350738.1:c.480A>G, NM_001350738.1:c.480A>C, NM_001350739.2:c.480A>G, NM_001350739.2:c.480A>C, NM_001350739.1:c.480A>G, NM_001350739.1:c.480A>C, NM_001278273.2:c.480A>G, NM_001278273.2:c.480A>C, NM_001278273.1:c.480A>G, NM_001278273.1:c.480A>C, XM_024446895.2:c.624A>G, XM_024446895.2:c.624A>C, XM_024446895.1:c.624A>G, XM_024446895.1:c.624A>C, NM_001350740.2:c.624A>G, NM_001350740.2:c.624A>C, NM_001350740.1:c.624A>G, NM_001350740.1:c.624A>C, NM_001350745.2:c.480A>G, NM_001350745.2:c.480A>C, NM_001350745.1:c.480A>G, NM_001350745.1:c.480A>C, NM_001350746.2:c.591A>G, NM_001350746.2:c.591A>C, NM_001350746.1:c.591A>G, NM_001350746.1:c.591A>C, XR_007060152.1:n.628A>G, XR_007060152.1:n.628A>C, XR_007060149.1:n.709A>G, XR_007060149.1:n.709A>C, XM_047420772.1:c.480A>G, XM_047420772.1:c.480A>C, XM_047420775.1:c.180A>G, XM_047420775.1:c.180A>C, XM_047420774.1:c.180A>G, XM_047420774.1:c.180A>C, XM_047420773.1:c.513A>G, XM_047420773.1:c.513A>C, XM_047420776.1:c.513A>G, XM_047420776.1:c.513A>C, XR_007060148.1:n.628A>G, XR_007060148.1:n.628A>C, XR_007060147.1:n.709A>G, XR_007060147.1:n.709A>C, XR_007060150.1:n.709A>G, XR_007060150.1:n.709A>C, XR_007060153.1:n.628A>G, XR_007060153.1:n.628A>C, XR_007060151.1:n.709A>G, XR_007060151.1:n.709A>C, XP_006716161.1:p.Ile160Met, XP_011514838.1:p.Ile171Met, XP_016868050.2:p.Ile197Met, NP_872633.1:p.Ile160Met, NP_872634.1:p.Ile171Met, XP_011514840.1:p.Ile160Met, XP_024302661.1:p.Ile197Met, NP_001337672.1:p.Ile160Met, NP_001337673.1:p.Ile160Met, XP_024302662.1:p.Ile208Met, NP_001337670.1:p.Ile171Met, NP_001337671.1:p.Ile197Met, NP_001337667.1:p.Ile160Met, NP_001337668.1:p.Ile160Met, NP_001265202.1:p.Ile160Met, XP_024302663.1:p.Ile208Met, NP_001337669.1:p.Ile208Met, NP_001337674.1:p.Ile160Met, NP_001337675.1:p.Ile197Met, XP_047276728.1:p.Ile160Met, XP_047276731.1:p.Ile60Met, XP_047276730.1:p.Ile60Met, XP_047276729.1:p.Ile171Met, XP_047276732.1:p.Ile171Met

                              15.

                              rs1466288085 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:105117919 (GRCh38)
                                7:104758366 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:105117918:G:A
                                Gene:
                                SRPK2 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.105117919G>A, NC_000007.13:g.104758366G>A, XM_006716098.4:c.2079C>T, XM_006716098.3:c.2079C>T, XM_006716098.2:c.2079C>T, XM_006716098.1:c.2079C>T, XM_011516536.4:c.2112C>T, XM_011516536.3:c.2112C>T, XM_011516536.2:c.2112C>T, XM_011516536.1:c.2112C>T, XR_001744861.3:n.2308C>T, XR_001744861.2:n.2259C>T, XR_001744861.1:n.2160C>T, XR_001744863.3:n.2215C>T, XR_001744863.2:n.2159C>T, XR_001744863.1:n.2067C>T, XM_017012561.3:c.2097C>T, XM_017012561.2:c.2097C>T, XM_017012561.1:c.1986C>T, NM_182691.3:c.1986C>T, NM_182691.2:c.1986C>T, NM_182692.3:c.2019C>T, NM_182692.2:c.2019C>T, XM_011516538.3:c.2079C>T, XM_011516538.2:c.2079C>T, XM_011516538.1:c.2079C>T, XR_001744862.3:n.2308C>T, XR_001744862.2:n.2259C>T, XR_001744862.1:n.2160C>T, XM_024446893.2:c.2190C>T, XM_024446893.1:c.2190C>T, NM_001350743.2:c.2079C>T, NM_001350743.1:c.2079C>T, NM_001350744.2:c.2079C>T, NM_001350744.1:c.2079C>T, XM_024446894.2:c.2223C>T, XM_024446894.1:c.2223C>T, NM_001350741.2:c.2112C>T, NM_001350741.1:c.2112C>T, NM_001350742.2:c.2097C>T, NM_001350742.1:c.2097C>T, NM_001350738.2:c.1986C>T, NM_001350738.1:c.1986C>T, NM_001350739.2:c.1986C>T, NM_001350739.1:c.1986C>T, NM_001278273.2:c.1986C>T, NM_001278273.1:c.1986C>T, XM_024446895.2:c.2130C>T, XM_024446895.1:c.2130C>T, NM_001350740.2:c.2130C>T, NM_001350740.1:c.2130C>T, NM_001350745.2:c.1848C>T, NM_001350745.1:c.1848C>T, NM_001350746.2:c.*77C>T, NM_001350746.1:c.*77C>T, XR_007060152.1:n.2134C>T, XR_007060149.1:n.2052C>T, XM_047420772.1:c.2079C>T, XM_047420775.1:c.1779C>T, XM_047420774.1:c.1779C>T, XM_047420773.1:c.2019C>T, XM_047420776.1:c.*77C>T, XR_007060148.1:n.2227C>T, XR_007060147.1:n.2308C>T, XR_007060150.1:n.2052C>T, XR_007060153.1:n.1971C>T, XR_007060151.1:n.2052C>T

                                16.

                                rs1466223966 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  7:105143173 (GRCh38)
                                  7:104783620 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:105143172:T:C
                                  Gene:
                                  SRPK2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000071/1 (TOMMO)
                                  HGVS:
                                  NC_000007.14:g.105143173T>C, NC_000007.13:g.104783620T>C, XM_006716098.4:c.938A>G, XM_006716098.3:c.938A>G, XM_006716098.2:c.938A>G, XM_006716098.1:c.938A>G, XM_011516536.4:c.971A>G, XM_011516536.3:c.971A>G, XM_011516536.2:c.971A>G, XM_011516536.1:c.971A>G, XR_001744861.3:n.1167A>G, XR_001744861.2:n.1118A>G, XR_001744861.1:n.1019A>G, XR_001744863.3:n.1167A>G, XR_001744863.2:n.1111A>G, XR_001744863.1:n.1019A>G, XM_017012561.3:c.1049A>G, XM_017012561.2:c.1049A>G, XM_017012561.1:c.938A>G, NM_182691.3:c.938A>G, NM_182691.2:c.938A>G, NM_182692.3:c.971A>G, NM_182692.2:c.971A>G, XM_011516538.3:c.938A>G, XM_011516538.2:c.938A>G, XM_011516538.1:c.938A>G, XR_001744862.3:n.1167A>G, XR_001744862.2:n.1118A>G, XR_001744862.1:n.1019A>G, XM_024446893.2:c.1049A>G, XM_024446893.1:c.1049A>G, NM_001350743.2:c.938A>G, NM_001350743.1:c.938A>G, NM_001350744.2:c.938A>G, NM_001350744.1:c.938A>G, XM_024446894.2:c.1082A>G, XM_024446894.1:c.1082A>G, NM_001350741.2:c.971A>G, NM_001350741.1:c.971A>G, NM_001350742.2:c.1049A>G, NM_001350742.1:c.1049A>G, NM_001350738.2:c.938A>G, NM_001350738.1:c.938A>G, NM_001350739.2:c.938A>G, NM_001350739.1:c.938A>G, NM_001278273.2:c.938A>G, NM_001278273.1:c.938A>G, XM_024446895.2:c.1082A>G, XM_024446895.1:c.1082A>G, NM_001350740.2:c.1082A>G, NM_001350740.1:c.1082A>G, NM_001350745.2:c.800A>G, NM_001350745.1:c.800A>G, NM_001350746.2:c.1049A>G, NM_001350746.1:c.1049A>G, XR_007060152.1:n.1086A>G, XR_007060149.1:n.1167A>G, XM_047420772.1:c.938A>G, XM_047420775.1:c.638A>G, XM_047420774.1:c.638A>G, XM_047420773.1:c.971A>G, XM_047420776.1:c.971A>G, XR_007060148.1:n.1086A>G, XR_007060147.1:n.1167A>G, XR_007060150.1:n.1167A>G, XR_007060153.1:n.1086A>G, XR_007060151.1:n.1167A>G, XP_006716161.1:p.Asn313Ser, XP_011514838.1:p.Asn324Ser, XP_016868050.2:p.Asn350Ser, NP_872633.1:p.Asn313Ser, NP_872634.1:p.Asn324Ser, XP_011514840.1:p.Asn313Ser, XP_024302661.1:p.Asn350Ser, NP_001337672.1:p.Asn313Ser, NP_001337673.1:p.Asn313Ser, XP_024302662.1:p.Asn361Ser, NP_001337670.1:p.Asn324Ser, NP_001337671.1:p.Asn350Ser, NP_001337667.1:p.Asn313Ser, NP_001337668.1:p.Asn313Ser, NP_001265202.1:p.Asn313Ser, XP_024302663.1:p.Asn361Ser, NP_001337669.1:p.Asn361Ser, NP_001337674.1:p.Asn267Ser, NP_001337675.1:p.Asn350Ser, XP_047276728.1:p.Asn313Ser, XP_047276731.1:p.Asn213Ser, XP_047276730.1:p.Asn213Ser, XP_047276729.1:p.Asn324Ser, XP_047276732.1:p.Asn324Ser

                                  17.

                                  rs1464904934 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:105268835 (GRCh38)
                                    7:104909282 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:105268834:A:G
                                    Gene:
                                    SRPK2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_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_000007.14:g.105268835A>G, NC_000007.13:g.104909282A>G, XM_006716098.4:c.9T>C, XM_006716098.3:c.9T>C, XM_006716098.2:c.9T>C, XM_006716098.1:c.9T>C, XR_001744861.3:n.238T>C, XR_001744861.2:n.189T>C, XR_001744861.1:n.90T>C, XR_001744863.3:n.238T>C, XR_001744863.2:n.182T>C, XR_001744863.1:n.90T>C, XM_017012561.3:c.120T>C, XM_017012561.2:c.120T>C, XM_017012561.1:c.9T>C, NM_182691.3:c.9T>C, NM_182691.2:c.9T>C, XM_011516538.3:c.9T>C, XM_011516538.2:c.9T>C, XM_011516538.1:c.9T>C, XR_001744862.3:n.238T>C, XR_001744862.2:n.189T>C, XR_001744862.1:n.90T>C, XM_024446893.2:c.120T>C, XM_024446893.1:c.120T>C, NM_001350743.2:c.9T>C, NM_001350743.1:c.9T>C, NM_001350744.2:c.9T>C, NM_001350744.1:c.9T>C, NM_001350742.2:c.120T>C, NM_001350742.1:c.120T>C, NM_001350738.2:c.9T>C, NM_001350738.1:c.9T>C, NM_001350739.2:c.9T>C, NM_001350739.1:c.9T>C, NM_001278273.2:c.9T>C, NM_001278273.1:c.9T>C, NM_001350745.2:c.9T>C, NM_001350745.1:c.9T>C, NM_001350746.2:c.120T>C, NM_001350746.1:c.120T>C, XR_007060149.1:n.238T>C, XM_047420772.1:c.9T>C, XM_047420775.1:c.-421T>C, XR_007060147.1:n.238T>C, XR_007060150.1:n.238T>C, XR_007060151.1:n.238T>C

                                    18.

                                    rs1464815441 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      7:105145295 (GRCh38)
                                      7:104785742 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:105145294:T:C
                                      Gene:
                                      SRPK2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.105145295T>C, NC_000007.13:g.104785742T>C, XM_006716098.4:c.768A>G, XM_006716098.3:c.768A>G, XM_006716098.2:c.768A>G, XM_006716098.1:c.768A>G, XM_011516536.4:c.801A>G, XM_011516536.3:c.801A>G, XM_011516536.2:c.801A>G, XM_011516536.1:c.801A>G, XR_001744861.3:n.997A>G, XR_001744861.2:n.948A>G, XR_001744861.1:n.849A>G, XR_001744863.3:n.997A>G, XR_001744863.2:n.941A>G, XR_001744863.1:n.849A>G, XM_017012561.3:c.879A>G, XM_017012561.2:c.879A>G, XM_017012561.1:c.768A>G, NM_182691.3:c.768A>G, NM_182691.2:c.768A>G, NM_182692.3:c.801A>G, NM_182692.2:c.801A>G, XM_011516538.3:c.768A>G, XM_011516538.2:c.768A>G, XM_011516538.1:c.768A>G, XR_001744862.3:n.997A>G, XR_001744862.2:n.948A>G, XR_001744862.1:n.849A>G, XM_024446893.2:c.879A>G, XM_024446893.1:c.879A>G, NM_001350743.2:c.768A>G, NM_001350743.1:c.768A>G, NM_001350744.2:c.768A>G, NM_001350744.1:c.768A>G, XM_024446894.2:c.912A>G, XM_024446894.1:c.912A>G, NM_001350741.2:c.801A>G, NM_001350741.1:c.801A>G, NM_001350742.2:c.879A>G, NM_001350742.1:c.879A>G, NM_001350738.2:c.768A>G, NM_001350738.1:c.768A>G, NM_001350739.2:c.768A>G, NM_001350739.1:c.768A>G, NM_001278273.2:c.768A>G, NM_001278273.1:c.768A>G, XM_024446895.2:c.912A>G, XM_024446895.1:c.912A>G, NM_001350740.2:c.912A>G, NM_001350740.1:c.912A>G, NM_001350745.2:c.630A>G, NM_001350745.1:c.630A>G, NM_001350746.2:c.879A>G, NM_001350746.1:c.879A>G, XR_007060152.1:n.916A>G, XR_007060149.1:n.997A>G, XM_047420772.1:c.768A>G, XM_047420775.1:c.468A>G, XM_047420774.1:c.468A>G, XM_047420773.1:c.801A>G, XM_047420776.1:c.801A>G, XR_007060148.1:n.916A>G, XR_007060147.1:n.997A>G, XR_007060150.1:n.997A>G, XR_007060153.1:n.916A>G, XR_007060151.1:n.997A>G

                                      19.

                                      rs1464770595 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:105142029 (GRCh38)
                                        7:104782476 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:105142028:T:C
                                        Gene:
                                        SRPK2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000043/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.105142029T>C, NC_000007.13:g.104782476T>C, XM_006716098.4:c.1489A>G, XM_006716098.3:c.1489A>G, XM_006716098.2:c.1489A>G, XM_006716098.1:c.1489A>G, XM_011516536.4:c.1522A>G, XM_011516536.3:c.1522A>G, XM_011516536.2:c.1522A>G, XM_011516536.1:c.1522A>G, XR_001744861.3:n.1718A>G, XR_001744861.2:n.1669A>G, XR_001744861.1:n.1570A>G, XR_001744863.3:n.1718A>G, XR_001744863.2:n.1662A>G, XR_001744863.1:n.1570A>G, XM_017012561.3:c.1600A>G, XM_017012561.2:c.1600A>G, XM_017012561.1:c.1489A>G, NM_182691.3:c.1489A>G, NM_182691.2:c.1489A>G, NM_182692.3:c.1522A>G, NM_182692.2:c.1522A>G, XM_011516538.3:c.1489A>G, XM_011516538.2:c.1489A>G, XM_011516538.1:c.1489A>G, XR_001744862.3:n.1718A>G, XR_001744862.2:n.1669A>G, XR_001744862.1:n.1570A>G, XM_024446893.2:c.1600A>G, XM_024446893.1:c.1600A>G, NM_001350743.2:c.1489A>G, NM_001350743.1:c.1489A>G, NM_001350744.2:c.1489A>G, NM_001350744.1:c.1489A>G, XM_024446894.2:c.1633A>G, XM_024446894.1:c.1633A>G, NM_001350741.2:c.1522A>G, NM_001350741.1:c.1522A>G, NM_001350742.2:c.1600A>G, NM_001350742.1:c.1600A>G, NM_001350738.2:c.1489A>G, NM_001350738.1:c.1489A>G, NM_001350739.2:c.1489A>G, NM_001350739.1:c.1489A>G, NM_001278273.2:c.1489A>G, NM_001278273.1:c.1489A>G, XM_024446895.2:c.1633A>G, XM_024446895.1:c.1633A>G, NM_001350740.2:c.1633A>G, NM_001350740.1:c.1633A>G, NM_001350745.2:c.1351A>G, NM_001350745.1:c.1351A>G, NM_001350746.2:c.1600A>G, NM_001350746.1:c.1600A>G, XR_007060152.1:n.1637A>G, XR_007060149.1:n.1718A>G, XM_047420772.1:c.1489A>G, XM_047420775.1:c.1189A>G, XM_047420774.1:c.1189A>G, XM_047420773.1:c.1522A>G, XM_047420776.1:c.1522A>G, XR_007060148.1:n.1637A>G, XR_007060147.1:n.1718A>G, XR_007060150.1:n.1718A>G, XR_007060153.1:n.1637A>G, XR_007060151.1:n.1718A>G, XP_006716161.1:p.Ser497Gly, XP_011514838.1:p.Ser508Gly, XP_016868050.2:p.Ser534Gly, NP_872633.1:p.Ser497Gly, NP_872634.1:p.Ser508Gly, XP_011514840.1:p.Ser497Gly, XP_024302661.1:p.Ser534Gly, NP_001337672.1:p.Ser497Gly, NP_001337673.1:p.Ser497Gly, XP_024302662.1:p.Ser545Gly, NP_001337670.1:p.Ser508Gly, NP_001337671.1:p.Ser534Gly, NP_001337667.1:p.Ser497Gly, NP_001337668.1:p.Ser497Gly, NP_001265202.1:p.Ser497Gly, XP_024302663.1:p.Ser545Gly, NP_001337669.1:p.Ser545Gly, NP_001337674.1:p.Ser451Gly, NP_001337675.1:p.Ser534Gly, XP_047276728.1:p.Ser497Gly, XP_047276731.1:p.Ser397Gly, XP_047276730.1:p.Ser397Gly, XP_047276729.1:p.Ser508Gly, XP_047276732.1:p.Ser508Gly

                                        20.

                                        rs1464437240 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          7:105127046 (GRCh38)
                                          7:104767493 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:105127045:G:A
                                          Gene:
                                          SRPK2 (Varview), LOC124901717 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.105127046G>A, NC_000007.13:g.104767493G>A, XM_006716098.4:c.1736C>T, XM_006716098.3:c.1736C>T, XM_006716098.2:c.1736C>T, XM_006716098.1:c.1736C>T, XM_011516536.4:c.1769C>T, XM_011516536.3:c.1769C>T, XM_011516536.2:c.1769C>T, XM_011516536.1:c.1769C>T, XR_001744861.3:n.1965C>T, XR_001744861.2:n.1916C>T, XR_001744861.1:n.1817C>T, XR_001744863.3:n.1965C>T, XR_001744863.2:n.1909C>T, XR_001744863.1:n.1817C>T, XM_017012561.3:c.1847C>T, XM_017012561.2:c.1847C>T, XM_017012561.1:c.1736C>T, NM_182691.3:c.1736C>T, NM_182691.2:c.1736C>T, NM_182692.3:c.1769C>T, NM_182692.2:c.1769C>T, XM_011516538.3:c.1736C>T, XM_011516538.2:c.1736C>T, XM_011516538.1:c.1736C>T, XR_001744862.3:n.1965C>T, XR_001744862.2:n.1916C>T, XR_001744862.1:n.1817C>T, XM_024446893.2:c.1847C>T, XM_024446893.1:c.1847C>T, NM_001350743.2:c.1736C>T, NM_001350743.1:c.1736C>T, NM_001350744.2:c.1736C>T, NM_001350744.1:c.1736C>T, XM_024446894.2:c.1880C>T, XM_024446894.1:c.1880C>T, NM_001350741.2:c.1769C>T, NM_001350741.1:c.1769C>T, NM_001350742.2:c.1847C>T, NM_001350742.1:c.1847C>T, NM_001350738.2:c.1736C>T, NM_001350738.1:c.1736C>T, NM_001350739.2:c.1736C>T, NM_001350739.1:c.1736C>T, NM_001278273.2:c.1736C>T, NM_001278273.1:c.1736C>T, XM_024446895.2:c.1880C>T, XM_024446895.1:c.1880C>T, NM_001350740.2:c.1880C>T, NM_001350740.1:c.1880C>T, NM_001350745.2:c.1598C>T, NM_001350745.1:c.1598C>T, XR_007060152.1:n.1884C>T, XM_047420772.1:c.1736C>T, XM_047420775.1:c.1436C>T, XM_047420774.1:c.1436C>T, XM_047420773.1:c.1769C>T, XR_007060148.1:n.1884C>T, XR_007060147.1:n.1965C>T, XP_006716161.1:p.Thr579Met, XP_011514838.1:p.Thr590Met, XP_016868050.2:p.Thr616Met, NP_872633.1:p.Thr579Met, NP_872634.1:p.Thr590Met, XP_011514840.1:p.Thr579Met, XP_024302661.1:p.Thr616Met, NP_001337672.1:p.Thr579Met, NP_001337673.1:p.Thr579Met, XP_024302662.1:p.Thr627Met, NP_001337670.1:p.Thr590Met, NP_001337671.1:p.Thr616Met, NP_001337667.1:p.Thr579Met, NP_001337668.1:p.Thr579Met, NP_001265202.1:p.Thr579Met, XP_024302663.1:p.Thr627Met, NP_001337669.1:p.Thr627Met, NP_001337674.1:p.Thr533Met, XP_047276728.1:p.Thr579Met, XP_047276731.1:p.Thr479Met, XP_047276730.1:p.Thr479Met, XP_047276729.1:p.Thr590Met

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...