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 413

1.

rs1489417098 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    15:22866248 (GRCh38)
    15:23006820 (GRCh37)
    Canonical SPDI:
    NC_000015.10:22866247:G:T
    Gene:
    NIPA2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000015.10:g.22866248G>T, NC_000015.9:g.23006820C>A, NG_054889.1:g.119659C>A, NG_021303.1:g.32608G>T, NM_030922.7:c.484G>T, NM_030922.6:c.484G>T, NM_001008860.3:c.484G>T, NM_001008860.2:c.484G>T, NM_001008892.3:c.484G>T, NM_001008892.2:c.484G>T, NM_001008894.3:c.427G>T, NM_001008894.2:c.427G>T, NM_001184889.2:c.484G>T, NM_001184889.1:c.484G>T, NM_001184888.2:c.427G>T, NM_001184888.1:c.427G>T, NW_021160017.1:g.3760327G>T, XM_005272553.6:c.484G>T, XM_005272553.5:c.484G>T, XM_005272553.4:c.484G>T, XM_005272553.3:c.484G>T, XM_005272553.2:c.484G>T, XM_005272553.1:c.484G>T, XM_005272547.5:c.484G>T, XM_005272547.4:c.484G>T, XM_005272547.3:c.484G>T, XM_005272547.2:c.484G>T, XM_005272547.1:c.484G>T, XM_005272552.5:c.484G>T, XM_005272552.4:c.484G>T, XM_005272552.3:c.484G>T, XM_005272552.2:c.484G>T, XM_005272552.1:c.484G>T, XM_011543878.4:c.484G>T, XM_011543878.3:c.484G>T, XM_011543878.2:c.484G>T, XM_011543878.1:c.484G>T, XM_005272546.4:c.484G>T, XM_005272546.3:c.484G>T, XM_005272546.2:c.484G>T, XM_005272546.1:c.484G>T, XM_011543880.4:c.484G>T, XM_011543880.3:c.484G>T, XM_011543880.2:c.484G>T, XM_011543880.1:c.484G>T, XM_005272550.4:c.484G>T, XM_005272550.3:c.484G>T, XM_005272550.2:c.484G>T, XM_005272550.1:c.484G>T, XM_011543879.4:c.484G>T, XM_011543879.3:c.484G>T, XM_011543879.2:c.484G>T, XM_011543879.1:c.484G>T, XM_005272548.4:c.484G>T, XM_005272548.3:c.484G>T, XM_005272548.2:c.484G>T, XM_005272548.1:c.484G>T, XM_017022651.3:c.484G>T, XM_017022651.2:c.484G>T, XM_017022651.1:c.484G>T, XM_017022653.3:c.484G>T, XM_017022653.2:c.484G>T, XM_017022653.1:c.484G>T, XM_011543877.3:c.484G>T, XM_011543877.2:c.484G>T, XM_011543877.1:c.484G>T, XM_017022649.3:c.484G>T, XM_017022649.2:c.484G>T, XM_017022649.1:c.484G>T, XM_017022650.3:c.484G>T, XM_017022650.2:c.484G>T, XM_017022650.1:c.484G>T, XM_006720364.3:c.484G>T, XM_006720364.2:c.484G>T, XM_006720364.1:c.484G>T, XM_017022652.3:c.484G>T, XM_017022652.2:c.484G>T, XM_017022652.1:c.484G>T, XM_017022654.3:c.484G>T, XM_017022654.2:c.484G>T, XM_017022654.1:c.484G>T, XM_006720367.2:c.427G>T, XM_006720367.1:c.427G>T, XM_017022646.2:c.484G>T, XM_017022646.1:c.484G>T, XM_017022647.2:c.484G>T, XM_017022647.1:c.484G>T, XM_017022660.2:c.427G>T, XM_017022660.1:c.427G>T, XM_017022657.2:c.427G>T, XM_017022657.1:c.427G>T, XM_017022659.2:c.427G>T, XM_017022659.1:c.427G>T, XM_017022656.2:c.427G>T, XM_017022656.1:c.427G>T, XM_017022655.2:c.427G>T, XM_017022655.1:c.427G>T, XM_017022662.2:c.427G>T, XM_017022662.1:c.427G>T, XM_017022661.2:c.427G>T, XM_017022661.1:c.427G>T, XM_017022663.2:c.427G>T, XM_017022663.1:c.427G>T, XM_017022658.2:c.427G>T, XM_017022658.1:c.427G>T, XM_017022645.2:c.484G>T, XM_017022645.1:c.484G>T, XM_047433162.1:c.427G>T, XM_017022648.2:c.484G>T, XM_017022648.1:c.484G>T, XM_047433152.1:c.484G>T, XM_047433156.1:c.484G>T, XM_047433150.1:c.484G>T, XM_047433151.1:c.484G>T, XM_047433160.1:c.427G>T, XM_047433161.1:c.427G>T, XM_047433155.1:c.484G>T, XM_047433163.1:c.427G>T, XM_047433157.1:c.484G>T, XM_047433154.1:c.484G>T, XM_047433159.1:c.427G>T, XM_047433153.1:c.484G>T, XM_047433158.1:c.427G>T, NP_112184.4:p.Ala162Ser, NP_001008860.1:p.Ala162Ser, NP_001008892.1:p.Ala162Ser, NP_001008894.1:p.Ala143Ser, NP_001171818.1:p.Ala162Ser, NP_001171817.1:p.Ala143Ser, XP_005272610.1:p.Ala162Ser, XP_005272604.1:p.Ala162Ser, XP_005272609.1:p.Ala162Ser, XP_011542180.1:p.Ala162Ser, XP_005272603.1:p.Ala162Ser, XP_011542182.1:p.Ala162Ser, XP_005272607.1:p.Ala162Ser, XP_011542181.1:p.Ala162Ser, XP_005272605.1:p.Ala162Ser, XP_016878140.1:p.Ala162Ser, XP_016878142.1:p.Ala162Ser, XP_011542179.1:p.Ala162Ser, XP_016878138.1:p.Ala162Ser, XP_016878139.1:p.Ala162Ser, XP_006720427.1:p.Ala162Ser, XP_016878141.1:p.Ala162Ser, XP_016878143.1:p.Ala162Ser, XP_006720430.1:p.Ala143Ser, XP_016878135.1:p.Ala162Ser, XP_016878136.1:p.Ala162Ser, XP_016878149.1:p.Ala143Ser, XP_016878146.1:p.Ala143Ser, XP_016878148.1:p.Ala143Ser, XP_016878145.1:p.Ala143Ser, XP_016878144.1:p.Ala143Ser, XP_016878151.1:p.Ala143Ser, XP_016878150.1:p.Ala143Ser, XP_016878152.1:p.Ala143Ser, XP_016878147.1:p.Ala143Ser, XP_016878134.1:p.Ala162Ser, XP_047289118.1:p.Ala143Ser, XP_016878137.1:p.Ala162Ser, XP_047289108.1:p.Ala162Ser, XP_047289112.1:p.Ala162Ser, XP_047289106.1:p.Ala162Ser, XP_047289107.1:p.Ala162Ser, XP_047289116.1:p.Ala143Ser, XP_047289117.1:p.Ala143Ser, XP_047289111.1:p.Ala162Ser, XP_047289119.1:p.Ala143Ser, XP_047289113.1:p.Ala162Ser, XP_047289110.1:p.Ala162Ser, XP_047289115.1:p.Ala143Ser, XP_047289109.1:p.Ala162Ser, XP_047289114.1:p.Ala143Ser

    2.

    rs1486901592 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      15:22866588 (GRCh38)
      15:23006480 (GRCh37)
      Canonical SPDI:
      NC_000015.10:22866587:C:G,NC_000015.10:22866587:C:T
      Gene:
      CYFIP1 (Varview), NIPA2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000029/4 (GnomAD)
      HGVS:
      NC_000015.10:g.22866588C>G, NC_000015.10:g.22866588C>T, NC_000015.9:g.23006480G>C, NC_000015.9:g.23006480G>A, NG_054889.1:g.119319G>C, NG_054889.1:g.119319G>A, NG_021303.1:g.32948C>G, NG_021303.1:g.32948C>T, NM_030922.7:c.824C>G, NM_030922.7:c.824C>T, NM_030922.6:c.824C>G, NM_030922.6:c.824C>T, NM_001008860.3:c.824C>G, NM_001008860.3:c.824C>T, NM_001008860.2:c.824C>G, NM_001008860.2:c.824C>T, NM_001008892.3:c.824C>G, NM_001008892.3:c.824C>T, NM_001008892.2:c.824C>G, NM_001008892.2:c.824C>T, NM_001008894.3:c.767C>G, NM_001008894.3:c.767C>T, NM_001008894.2:c.767C>G, NM_001008894.2:c.767C>T, NM_001184889.2:c.824C>G, NM_001184889.2:c.824C>T, NM_001184889.1:c.824C>G, NM_001184889.1:c.824C>T, NM_001184888.2:c.767C>G, NM_001184888.2:c.767C>T, NM_001184888.1:c.767C>G, NM_001184888.1:c.767C>T, NW_021160017.1:g.3760667C>G, NW_021160017.1:g.3760667C>T, XM_005272553.6:c.824C>G, XM_005272553.6:c.824C>T, XM_005272553.5:c.824C>G, XM_005272553.5:c.824C>T, XM_005272553.4:c.824C>G, XM_005272553.4:c.824C>T, XM_005272553.3:c.824C>G, XM_005272553.3:c.824C>T, XM_005272553.2:c.824C>G, XM_005272553.2:c.824C>T, XM_005272553.1:c.824C>G, XM_005272553.1:c.824C>T, XM_005272547.5:c.824C>G, XM_005272547.5:c.824C>T, XM_005272547.4:c.824C>G, XM_005272547.4:c.824C>T, XM_005272547.3:c.824C>G, XM_005272547.3:c.824C>T, XM_005272547.2:c.824C>G, XM_005272547.2:c.824C>T, XM_005272547.1:c.824C>G, XM_005272547.1:c.824C>T, XM_005272552.5:c.824C>G, XM_005272552.5:c.824C>T, XM_005272552.4:c.824C>G, XM_005272552.4:c.824C>T, XM_005272552.3:c.824C>G, XM_005272552.3:c.824C>T, XM_005272552.2:c.824C>G, XM_005272552.2:c.824C>T, XM_005272552.1:c.824C>G, XM_005272552.1:c.824C>T, XM_011543878.4:c.824C>G, XM_011543878.4:c.824C>T, XM_011543878.3:c.824C>G, XM_011543878.3:c.824C>T, XM_011543878.2:c.824C>G, XM_011543878.2:c.824C>T, XM_011543878.1:c.824C>G, XM_011543878.1:c.824C>T, XM_005272546.4:c.824C>G, XM_005272546.4:c.824C>T, XM_005272546.3:c.824C>G, XM_005272546.3:c.824C>T, XM_005272546.2:c.824C>G, XM_005272546.2:c.824C>T, XM_005272546.1:c.824C>G, XM_005272546.1:c.824C>T, XM_011543880.4:c.824C>G, XM_011543880.4:c.824C>T, XM_011543880.3:c.824C>G, XM_011543880.3:c.824C>T, XM_011543880.2:c.824C>G, XM_011543880.2:c.824C>T, XM_011543880.1:c.824C>G, XM_011543880.1:c.824C>T, XM_005272550.4:c.824C>G, XM_005272550.4:c.824C>T, XM_005272550.3:c.824C>G, XM_005272550.3:c.824C>T, XM_005272550.2:c.824C>G, XM_005272550.2:c.824C>T, XM_005272550.1:c.824C>G, XM_005272550.1:c.824C>T, XM_011543879.4:c.824C>G, XM_011543879.4:c.824C>T, XM_011543879.3:c.824C>G, XM_011543879.3:c.824C>T, XM_011543879.2:c.824C>G, XM_011543879.2:c.824C>T, XM_011543879.1:c.824C>G, XM_011543879.1:c.824C>T, XM_005272548.4:c.824C>G, XM_005272548.4:c.824C>T, XM_005272548.3:c.824C>G, XM_005272548.3:c.824C>T, XM_005272548.2:c.824C>G, XM_005272548.2:c.824C>T, XM_005272548.1:c.824C>G, XM_005272548.1:c.824C>T, XM_017022651.3:c.824C>G, XM_017022651.3:c.824C>T, XM_017022651.2:c.824C>G, XM_017022651.2:c.824C>T, XM_017022651.1:c.824C>G, XM_017022651.1:c.824C>T, XM_017022653.3:c.824C>G, XM_017022653.3:c.824C>T, XM_017022653.2:c.824C>G, XM_017022653.2:c.824C>T, XM_017022653.1:c.824C>G, XM_017022653.1:c.824C>T, XM_011543877.3:c.824C>G, XM_011543877.3:c.824C>T, XM_011543877.2:c.824C>G, XM_011543877.2:c.824C>T, XM_011543877.1:c.824C>G, XM_011543877.1:c.824C>T, XM_017022649.3:c.824C>G, XM_017022649.3:c.824C>T, XM_017022649.2:c.824C>G, XM_017022649.2:c.824C>T, XM_017022649.1:c.824C>G, XM_017022649.1:c.824C>T, XM_017022650.3:c.824C>G, XM_017022650.3:c.824C>T, XM_017022650.2:c.824C>G, XM_017022650.2:c.824C>T, XM_017022650.1:c.824C>G, XM_017022650.1:c.824C>T, XM_006720364.3:c.824C>G, XM_006720364.3:c.824C>T, XM_006720364.2:c.824C>G, XM_006720364.2:c.824C>T, XM_006720364.1:c.824C>G, XM_006720364.1:c.824C>T, XM_017022652.3:c.824C>G, XM_017022652.3:c.824C>T, XM_017022652.2:c.824C>G, XM_017022652.2:c.824C>T, XM_017022652.1:c.824C>G, XM_017022652.1:c.824C>T, XM_017022654.3:c.824C>G, XM_017022654.3:c.824C>T, XM_017022654.2:c.824C>G, XM_017022654.2:c.824C>T, XM_017022654.1:c.824C>G, XM_017022654.1:c.824C>T, XM_006720367.2:c.767C>G, XM_006720367.2:c.767C>T, XM_006720367.1:c.767C>G, XM_006720367.1:c.767C>T, XM_017022646.2:c.824C>G, XM_017022646.2:c.824C>T, XM_017022646.1:c.824C>G, XM_017022646.1:c.824C>T, XM_017022647.2:c.824C>G, XM_017022647.2:c.824C>T, XM_017022647.1:c.824C>G, XM_017022647.1:c.824C>T, XM_017022660.2:c.767C>G, XM_017022660.2:c.767C>T, XM_017022660.1:c.767C>G, XM_017022660.1:c.767C>T, XM_017022657.2:c.767C>G, XM_017022657.2:c.767C>T, XM_017022657.1:c.767C>G, XM_017022657.1:c.767C>T, XM_017022659.2:c.767C>G, XM_017022659.2:c.767C>T, XM_017022659.1:c.767C>G, XM_017022659.1:c.767C>T, XM_017022656.2:c.767C>G, XM_017022656.2:c.767C>T, XM_017022656.1:c.767C>G, XM_017022656.1:c.767C>T, XM_017022655.2:c.767C>G, XM_017022655.2:c.767C>T, XM_017022655.1:c.767C>G, XM_017022655.1:c.767C>T, XM_017022662.2:c.767C>G, XM_017022662.2:c.767C>T, XM_017022662.1:c.767C>G, XM_017022662.1:c.767C>T, XM_017022661.2:c.767C>G, XM_017022661.2:c.767C>T, XM_017022661.1:c.767C>G, XM_017022661.1:c.767C>T, XM_017022663.2:c.767C>G, XM_017022663.2:c.767C>T, XM_017022663.1:c.767C>G, XM_017022663.1:c.767C>T, XM_017022658.2:c.767C>G, XM_017022658.2:c.767C>T, XM_017022658.1:c.767C>G, XM_017022658.1:c.767C>T, XM_017022645.2:c.824C>G, XM_017022645.2:c.824C>T, XM_017022645.1:c.824C>G, XM_017022645.1:c.824C>T, XM_047433162.1:c.767C>G, XM_047433162.1:c.767C>T, XM_017022648.2:c.824C>G, XM_017022648.2:c.824C>T, XM_017022648.1:c.824C>G, XM_017022648.1:c.824C>T, XM_047433152.1:c.824C>G, XM_047433152.1:c.824C>T, XM_047433156.1:c.824C>G, XM_047433156.1:c.824C>T, XM_047433150.1:c.824C>G, XM_047433150.1:c.824C>T, XM_047433151.1:c.824C>G, XM_047433151.1:c.824C>T, XM_047433160.1:c.767C>G, XM_047433160.1:c.767C>T, XM_047433161.1:c.767C>G, XM_047433161.1:c.767C>T, XM_047433155.1:c.824C>G, XM_047433155.1:c.824C>T, XM_047433163.1:c.767C>G, XM_047433163.1:c.767C>T, XM_047433157.1:c.824C>G, XM_047433157.1:c.824C>T, XM_047433154.1:c.824C>G, XM_047433154.1:c.824C>T, XM_047433159.1:c.767C>G, XM_047433159.1:c.767C>T, XM_047433153.1:c.824C>G, XM_047433153.1:c.824C>T, XM_047433158.1:c.767C>G, XM_047433158.1:c.767C>T, NP_112184.4:p.Pro275Arg, NP_112184.4:p.Pro275Leu, NP_001008860.1:p.Pro275Arg, NP_001008860.1:p.Pro275Leu, NP_001008892.1:p.Pro275Arg, NP_001008892.1:p.Pro275Leu, NP_001008894.1:p.Pro256Arg, NP_001008894.1:p.Pro256Leu, NP_001171818.1:p.Pro275Arg, NP_001171818.1:p.Pro275Leu, NP_001171817.1:p.Pro256Arg, NP_001171817.1:p.Pro256Leu, XP_005272610.1:p.Pro275Arg, XP_005272610.1:p.Pro275Leu, XP_005272604.1:p.Pro275Arg, XP_005272604.1:p.Pro275Leu, XP_005272609.1:p.Pro275Arg, XP_005272609.1:p.Pro275Leu, XP_011542180.1:p.Pro275Arg, XP_011542180.1:p.Pro275Leu, XP_005272603.1:p.Pro275Arg, XP_005272603.1:p.Pro275Leu, XP_011542182.1:p.Pro275Arg, XP_011542182.1:p.Pro275Leu, XP_005272607.1:p.Pro275Arg, XP_005272607.1:p.Pro275Leu, XP_011542181.1:p.Pro275Arg, XP_011542181.1:p.Pro275Leu, XP_005272605.1:p.Pro275Arg, XP_005272605.1:p.Pro275Leu, XP_016878140.1:p.Pro275Arg, XP_016878140.1:p.Pro275Leu, XP_016878142.1:p.Pro275Arg, XP_016878142.1:p.Pro275Leu, XP_011542179.1:p.Pro275Arg, XP_011542179.1:p.Pro275Leu, XP_016878138.1:p.Pro275Arg, XP_016878138.1:p.Pro275Leu, XP_016878139.1:p.Pro275Arg, XP_016878139.1:p.Pro275Leu, XP_006720427.1:p.Pro275Arg, XP_006720427.1:p.Pro275Leu, XP_016878141.1:p.Pro275Arg, XP_016878141.1:p.Pro275Leu, XP_016878143.1:p.Pro275Arg, XP_016878143.1:p.Pro275Leu, XP_006720430.1:p.Pro256Arg, XP_006720430.1:p.Pro256Leu, XP_016878135.1:p.Pro275Arg, XP_016878135.1:p.Pro275Leu, XP_016878136.1:p.Pro275Arg, XP_016878136.1:p.Pro275Leu, XP_016878149.1:p.Pro256Arg, XP_016878149.1:p.Pro256Leu, XP_016878146.1:p.Pro256Arg, XP_016878146.1:p.Pro256Leu, XP_016878148.1:p.Pro256Arg, XP_016878148.1:p.Pro256Leu, XP_016878145.1:p.Pro256Arg, XP_016878145.1:p.Pro256Leu, XP_016878144.1:p.Pro256Arg, XP_016878144.1:p.Pro256Leu, XP_016878151.1:p.Pro256Arg, XP_016878151.1:p.Pro256Leu, XP_016878150.1:p.Pro256Arg, XP_016878150.1:p.Pro256Leu, XP_016878152.1:p.Pro256Arg, XP_016878152.1:p.Pro256Leu, XP_016878147.1:p.Pro256Arg, XP_016878147.1:p.Pro256Leu, XP_016878134.1:p.Pro275Arg, XP_016878134.1:p.Pro275Leu, XP_047289118.1:p.Pro256Arg, XP_047289118.1:p.Pro256Leu, XP_016878137.1:p.Pro275Arg, XP_016878137.1:p.Pro275Leu, XP_047289108.1:p.Pro275Arg, XP_047289108.1:p.Pro275Leu, XP_047289112.1:p.Pro275Arg, XP_047289112.1:p.Pro275Leu, XP_047289106.1:p.Pro275Arg, XP_047289106.1:p.Pro275Leu, XP_047289107.1:p.Pro275Arg, XP_047289107.1:p.Pro275Leu, XP_047289116.1:p.Pro256Arg, XP_047289116.1:p.Pro256Leu, XP_047289117.1:p.Pro256Arg, XP_047289117.1:p.Pro256Leu, XP_047289111.1:p.Pro275Arg, XP_047289111.1:p.Pro275Leu, XP_047289119.1:p.Pro256Arg, XP_047289119.1:p.Pro256Leu, XP_047289113.1:p.Pro275Arg, XP_047289113.1:p.Pro275Leu, XP_047289110.1:p.Pro275Arg, XP_047289110.1:p.Pro275Leu, XP_047289115.1:p.Pro256Arg, XP_047289115.1:p.Pro256Leu, XP_047289109.1:p.Pro275Arg, XP_047289109.1:p.Pro275Leu, XP_047289114.1:p.Pro256Arg, XP_047289114.1:p.Pro256Leu

      3.

      rs1484536020 has merged into rs939431372 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TCTAG>- [Show Flanks]
        Chromosome:
        15:22866679 (GRCh38)
        15:23006388 (GRCh37)
        Canonical SPDI:
        NC_000015.10:22866675:TAGTCTAG:TAG
        Gene:
        CYFIP1 (Varview), NIPA2 (Varview)
        Functional Consequence:
        downstream_transcript_variant,frameshift_variant,coding_sequence_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TAG=0./0 (ALFA)
        -=0.000004/1 (GnomAD_exomes)
        -=0.000019/5 (TOPMED)
        -=0.000021/3 (GnomAD)
        HGVS:
        NC_000015.10:g.22866679_22866683del, NC_000015.9:g.23006388_23006392del, NG_054889.1:g.119227_119231del, NG_021303.1:g.33039_33043del, NM_030922.7:c.915_919del, NM_030922.6:c.915_919del, NM_001008860.3:c.915_919del, NM_001008860.2:c.915_919del, NM_001008892.3:c.915_919del, NM_001008892.2:c.915_919del, NM_001008894.3:c.858_862del, NM_001008894.2:c.858_862del, NM_001184889.2:c.915_919del, NM_001184889.1:c.915_919del, NM_001184888.2:c.858_862del, NM_001184888.1:c.858_862del, NW_021160017.1:g.3760758_3760762del, XM_005272553.6:c.915_919del, XM_005272553.5:c.915_919del, XM_005272553.4:c.915_919del, XM_005272553.3:c.915_919del, XM_005272553.2:c.915_919del, XM_005272553.1:c.915_919del, XM_005272547.5:c.915_919del, XM_005272547.4:c.915_919del, XM_005272547.3:c.915_919del, XM_005272547.2:c.915_919del, XM_005272547.1:c.915_919del, XM_005272552.5:c.915_919del, XM_005272552.4:c.915_919del, XM_005272552.3:c.915_919del, XM_005272552.2:c.915_919del, XM_005272552.1:c.915_919del, XM_011543878.4:c.915_919del, XM_011543878.3:c.915_919del, XM_011543878.2:c.915_919del, XM_011543878.1:c.915_919del, XM_005272546.4:c.915_919del, XM_005272546.3:c.915_919del, XM_005272546.2:c.915_919del, XM_005272546.1:c.915_919del, XM_011543880.4:c.915_919del, XM_011543880.3:c.915_919del, XM_011543880.2:c.915_919del, XM_011543880.1:c.915_919del, XM_005272550.4:c.915_919del, XM_005272550.3:c.915_919del, XM_005272550.2:c.915_919del, XM_005272550.1:c.915_919del, XM_011543879.4:c.915_919del, XM_011543879.3:c.915_919del, XM_011543879.2:c.915_919del, XM_011543879.1:c.915_919del, XM_005272548.4:c.915_919del, XM_005272548.3:c.915_919del, XM_005272548.2:c.915_919del, XM_005272548.1:c.915_919del, XM_017022651.3:c.915_919del, XM_017022651.2:c.915_919del, XM_017022651.1:c.915_919del, XM_017022653.3:c.915_919del, XM_017022653.2:c.915_919del, XM_017022653.1:c.915_919del, XM_011543877.3:c.915_919del, XM_011543877.2:c.915_919del, XM_011543877.1:c.915_919del, XM_017022649.3:c.915_919del, XM_017022649.2:c.915_919del, XM_017022649.1:c.915_919del, XM_017022650.3:c.915_919del, XM_017022650.2:c.915_919del, XM_017022650.1:c.915_919del, XM_006720364.3:c.915_919del, XM_006720364.2:c.915_919del, XM_006720364.1:c.915_919del, XM_017022652.3:c.915_919del, XM_017022652.2:c.915_919del, XM_017022652.1:c.915_919del, XM_017022654.3:c.915_919del, XM_017022654.2:c.915_919del, XM_017022654.1:c.915_919del, XM_006720367.2:c.858_862del, XM_006720367.1:c.858_862del, XM_017022646.2:c.915_919del, XM_017022646.1:c.915_919del, XM_017022647.2:c.915_919del, XM_017022647.1:c.915_919del, XM_017022660.2:c.858_862del, XM_017022660.1:c.858_862del, XM_017022657.2:c.858_862del, XM_017022657.1:c.858_862del, XM_017022659.2:c.858_862del, XM_017022659.1:c.858_862del, XM_017022656.2:c.858_862del, XM_017022656.1:c.858_862del, XM_017022655.2:c.858_862del, XM_017022655.1:c.858_862del, XM_017022662.2:c.858_862del, XM_017022662.1:c.858_862del, XM_017022661.2:c.858_862del, XM_017022661.1:c.858_862del, XM_017022663.2:c.858_862del, XM_017022663.1:c.858_862del, XM_017022658.2:c.858_862del, XM_017022658.1:c.858_862del, XM_017022645.2:c.915_919del, XM_017022645.1:c.915_919del, XM_047433162.1:c.858_862del, XM_017022648.2:c.915_919del, XM_017022648.1:c.915_919del, XM_047433152.1:c.915_919del, XM_047433156.1:c.915_919del, XM_047433150.1:c.915_919del, XM_047433151.1:c.915_919del, XM_047433160.1:c.858_862del, XM_047433161.1:c.858_862del, XM_047433155.1:c.915_919del, XM_047433163.1:c.858_862del, XM_047433157.1:c.915_919del, XM_047433154.1:c.915_919del, XM_047433159.1:c.858_862del, XM_047433153.1:c.915_919del, XM_047433158.1:c.858_862del, NP_112184.4:p.Leu306fs, NP_001008860.1:p.Leu306fs, NP_001008892.1:p.Leu306fs, NP_001008894.1:p.Leu287fs, NP_001171818.1:p.Leu306fs, NP_001171817.1:p.Leu287fs, XP_005272610.1:p.Leu306fs, XP_005272604.1:p.Leu306fs, XP_005272609.1:p.Leu306fs, XP_011542180.1:p.Leu306fs, XP_005272603.1:p.Leu306fs, XP_011542182.1:p.Leu306fs, XP_005272607.1:p.Leu306fs, XP_011542181.1:p.Leu306fs, XP_005272605.1:p.Leu306fs, XP_016878140.1:p.Leu306fs, XP_016878142.1:p.Leu306fs, XP_011542179.1:p.Leu306fs, XP_016878138.1:p.Leu306fs, XP_016878139.1:p.Leu306fs, XP_006720427.1:p.Leu306fs, XP_016878141.1:p.Leu306fs, XP_016878143.1:p.Leu306fs, XP_006720430.1:p.Leu287fs, XP_016878135.1:p.Leu306fs, XP_016878136.1:p.Leu306fs, XP_016878149.1:p.Leu287fs, XP_016878146.1:p.Leu287fs, XP_016878148.1:p.Leu287fs, XP_016878145.1:p.Leu287fs, XP_016878144.1:p.Leu287fs, XP_016878151.1:p.Leu287fs, XP_016878150.1:p.Leu287fs, XP_016878152.1:p.Leu287fs, XP_016878147.1:p.Leu287fs, XP_016878134.1:p.Leu306fs, XP_047289118.1:p.Leu287fs, XP_016878137.1:p.Leu306fs, XP_047289108.1:p.Leu306fs, XP_047289112.1:p.Leu306fs, XP_047289106.1:p.Leu306fs, XP_047289107.1:p.Leu306fs, XP_047289116.1:p.Leu287fs, XP_047289117.1:p.Leu287fs, XP_047289111.1:p.Leu306fs, XP_047289119.1:p.Leu287fs, XP_047289113.1:p.Leu306fs, XP_047289110.1:p.Leu306fs, XP_047289115.1:p.Leu287fs, XP_047289109.1:p.Leu306fs, XP_047289114.1:p.Leu287fs

        4.

        rs1484472438 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTC [Show Flanks]
          Chromosome:
          15:22866696 (GRCh38)
          15:23006369 (GRCh37)
          Canonical SPDI:
          NC_000015.10:22866696:GTC:GTCGTC
          Gene:
          CYFIP1 (Varview), NIPA2 (Varview)
          Functional Consequence:
          inframe_insertion,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          GTCGTC=0./0 (ALFA)
          GTC=0.000004/1 (TOPMED)
          HGVS:
          NC_000015.10:g.22866697_22866699dup, NC_000015.9:g.23006369_23006371dup, NG_054889.1:g.119208_119210dup, NG_021303.1:g.33057_33059dup, NM_030922.7:c.933_935dup, NM_030922.6:c.933_935dup, NM_001008860.3:c.933_935dup, NM_001008860.2:c.933_935dup, NM_001008892.3:c.933_935dup, NM_001008892.2:c.933_935dup, NM_001008894.3:c.876_878dup, NM_001008894.2:c.876_878dup, NM_001184889.2:c.933_935dup, NM_001184889.1:c.933_935dup, NM_001184888.2:c.876_878dup, NM_001184888.1:c.876_878dup, NW_021160017.1:g.3760776_3760778dup, XM_005272553.6:c.933_935dup, XM_005272553.5:c.933_935dup, XM_005272553.4:c.933_935dup, XM_005272553.3:c.933_935dup, XM_005272553.2:c.933_935dup, XM_005272553.1:c.933_935dup, XM_005272547.5:c.933_935dup, XM_005272547.4:c.933_935dup, XM_005272547.3:c.933_935dup, XM_005272547.2:c.933_935dup, XM_005272547.1:c.933_935dup, XM_005272552.5:c.933_935dup, XM_005272552.4:c.933_935dup, XM_005272552.3:c.933_935dup, XM_005272552.2:c.933_935dup, XM_005272552.1:c.933_935dup, XM_011543878.4:c.933_935dup, XM_011543878.3:c.933_935dup, XM_011543878.2:c.933_935dup, XM_011543878.1:c.933_935dup, XM_005272546.4:c.933_935dup, XM_005272546.3:c.933_935dup, XM_005272546.2:c.933_935dup, XM_005272546.1:c.933_935dup, XM_011543880.4:c.933_935dup, XM_011543880.3:c.933_935dup, XM_011543880.2:c.933_935dup, XM_011543880.1:c.933_935dup, XM_005272550.4:c.933_935dup, XM_005272550.3:c.933_935dup, XM_005272550.2:c.933_935dup, XM_005272550.1:c.933_935dup, XM_011543879.4:c.933_935dup, XM_011543879.3:c.933_935dup, XM_011543879.2:c.933_935dup, XM_011543879.1:c.933_935dup, XM_005272548.4:c.933_935dup, XM_005272548.3:c.933_935dup, XM_005272548.2:c.933_935dup, XM_005272548.1:c.933_935dup, XM_017022651.3:c.933_935dup, XM_017022651.2:c.933_935dup, XM_017022651.1:c.933_935dup, XM_017022653.3:c.933_935dup, XM_017022653.2:c.933_935dup, XM_017022653.1:c.933_935dup, XM_011543877.3:c.933_935dup, XM_011543877.2:c.933_935dup, XM_011543877.1:c.933_935dup, XM_017022649.3:c.933_935dup, XM_017022649.2:c.933_935dup, XM_017022649.1:c.933_935dup, XM_017022650.3:c.933_935dup, XM_017022650.2:c.933_935dup, XM_017022650.1:c.933_935dup, XM_006720364.3:c.933_935dup, XM_006720364.2:c.933_935dup, XM_006720364.1:c.933_935dup, XM_017022652.3:c.933_935dup, XM_017022652.2:c.933_935dup, XM_017022652.1:c.933_935dup, XM_017022654.3:c.933_935dup, XM_017022654.2:c.933_935dup, XM_017022654.1:c.933_935dup, XM_006720367.2:c.876_878dup, XM_006720367.1:c.876_878dup, XM_017022646.2:c.933_935dup, XM_017022646.1:c.933_935dup, XM_017022647.2:c.933_935dup, XM_017022647.1:c.933_935dup, XM_017022660.2:c.876_878dup, XM_017022660.1:c.876_878dup, XM_017022657.2:c.876_878dup, XM_017022657.1:c.876_878dup, XM_017022659.2:c.876_878dup, XM_017022659.1:c.876_878dup, XM_017022656.2:c.876_878dup, XM_017022656.1:c.876_878dup, XM_017022655.2:c.876_878dup, XM_017022655.1:c.876_878dup, XM_017022662.2:c.876_878dup, XM_017022662.1:c.876_878dup, XM_017022661.2:c.876_878dup, XM_017022661.1:c.876_878dup, XM_017022663.2:c.876_878dup, XM_017022663.1:c.876_878dup, XM_017022658.2:c.876_878dup, XM_017022658.1:c.876_878dup, XM_017022645.2:c.933_935dup, XM_017022645.1:c.933_935dup, XM_047433162.1:c.876_878dup, XM_017022648.2:c.933_935dup, XM_017022648.1:c.933_935dup, XM_047433152.1:c.933_935dup, XM_047433156.1:c.933_935dup, XM_047433150.1:c.933_935dup, XM_047433151.1:c.933_935dup, XM_047433160.1:c.876_878dup, XM_047433161.1:c.876_878dup, XM_047433155.1:c.933_935dup, XM_047433163.1:c.876_878dup, XM_047433157.1:c.933_935dup, XM_047433154.1:c.933_935dup, XM_047433159.1:c.876_878dup, XM_047433153.1:c.933_935dup, XM_047433158.1:c.876_878dup, NP_112184.4:p.Ser312dup, NP_001008860.1:p.Ser312dup, NP_001008892.1:p.Ser312dup, NP_001008894.1:p.Ser293dup, NP_001171818.1:p.Ser312dup, NP_001171817.1:p.Ser293dup, XP_005272610.1:p.Ser312dup, XP_005272604.1:p.Ser312dup, XP_005272609.1:p.Ser312dup, XP_011542180.1:p.Ser312dup, XP_005272603.1:p.Ser312dup, XP_011542182.1:p.Ser312dup, XP_005272607.1:p.Ser312dup, XP_011542181.1:p.Ser312dup, XP_005272605.1:p.Ser312dup, XP_016878140.1:p.Ser312dup, XP_016878142.1:p.Ser312dup, XP_011542179.1:p.Ser312dup, XP_016878138.1:p.Ser312dup, XP_016878139.1:p.Ser312dup, XP_006720427.1:p.Ser312dup, XP_016878141.1:p.Ser312dup, XP_016878143.1:p.Ser312dup, XP_006720430.1:p.Ser293dup, XP_016878135.1:p.Ser312dup, XP_016878136.1:p.Ser312dup, XP_016878149.1:p.Ser293dup, XP_016878146.1:p.Ser293dup, XP_016878148.1:p.Ser293dup, XP_016878145.1:p.Ser293dup, XP_016878144.1:p.Ser293dup, XP_016878151.1:p.Ser293dup, XP_016878150.1:p.Ser293dup, XP_016878152.1:p.Ser293dup, XP_016878147.1:p.Ser293dup, XP_016878134.1:p.Ser312dup, XP_047289118.1:p.Ser293dup, XP_016878137.1:p.Ser312dup, XP_047289108.1:p.Ser312dup, XP_047289112.1:p.Ser312dup, XP_047289106.1:p.Ser312dup, XP_047289107.1:p.Ser312dup, XP_047289116.1:p.Ser293dup, XP_047289117.1:p.Ser293dup, XP_047289111.1:p.Ser312dup, XP_047289119.1:p.Ser293dup, XP_047289113.1:p.Ser312dup, XP_047289110.1:p.Ser312dup, XP_047289115.1:p.Ser293dup, XP_047289109.1:p.Ser312dup, XP_047289114.1:p.Ser293dup

          5.

          rs1484142941 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            15:22866230 (GRCh38)
            15:23006838 (GRCh37)
            Canonical SPDI:
            NC_000015.10:22866229:A:C,NC_000015.10:22866229:A:G
            Gene:
            NIPA2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000015.10:g.22866230A>C, NC_000015.10:g.22866230A>G, NC_000015.9:g.23006838T>G, NC_000015.9:g.23006838T>C, NG_054889.1:g.119677T>G, NG_054889.1:g.119677T>C, NG_021303.1:g.32590A>C, NG_021303.1:g.32590A>G, NM_030922.7:c.466A>C, NM_030922.7:c.466A>G, NM_030922.6:c.466A>C, NM_030922.6:c.466A>G, NM_001008860.3:c.466A>C, NM_001008860.3:c.466A>G, NM_001008860.2:c.466A>C, NM_001008860.2:c.466A>G, NM_001008892.3:c.466A>C, NM_001008892.3:c.466A>G, NM_001008892.2:c.466A>C, NM_001008892.2:c.466A>G, NM_001008894.3:c.409A>C, NM_001008894.3:c.409A>G, NM_001008894.2:c.409A>C, NM_001008894.2:c.409A>G, NM_001184889.2:c.466A>C, NM_001184889.2:c.466A>G, NM_001184889.1:c.466A>C, NM_001184889.1:c.466A>G, NM_001184888.2:c.409A>C, NM_001184888.2:c.409A>G, NM_001184888.1:c.409A>C, NM_001184888.1:c.409A>G, NW_021160017.1:g.3760309A>C, NW_021160017.1:g.3760309A>G, XM_005272553.6:c.466A>C, XM_005272553.6:c.466A>G, XM_005272553.5:c.466A>C, XM_005272553.5:c.466A>G, XM_005272553.4:c.466A>C, XM_005272553.4:c.466A>G, XM_005272553.3:c.466A>C, XM_005272553.3:c.466A>G, XM_005272553.2:c.466A>C, XM_005272553.2:c.466A>G, XM_005272553.1:c.466A>C, XM_005272553.1:c.466A>G, XM_005272547.5:c.466A>C, XM_005272547.5:c.466A>G, XM_005272547.4:c.466A>C, XM_005272547.4:c.466A>G, XM_005272547.3:c.466A>C, XM_005272547.3:c.466A>G, XM_005272547.2:c.466A>C, XM_005272547.2:c.466A>G, XM_005272547.1:c.466A>C, XM_005272547.1:c.466A>G, XM_005272552.5:c.466A>C, XM_005272552.5:c.466A>G, XM_005272552.4:c.466A>C, XM_005272552.4:c.466A>G, XM_005272552.3:c.466A>C, XM_005272552.3:c.466A>G, XM_005272552.2:c.466A>C, XM_005272552.2:c.466A>G, XM_005272552.1:c.466A>C, XM_005272552.1:c.466A>G, XM_011543878.4:c.466A>C, XM_011543878.4:c.466A>G, XM_011543878.3:c.466A>C, XM_011543878.3:c.466A>G, XM_011543878.2:c.466A>C, XM_011543878.2:c.466A>G, XM_011543878.1:c.466A>C, XM_011543878.1:c.466A>G, XM_005272546.4:c.466A>C, XM_005272546.4:c.466A>G, XM_005272546.3:c.466A>C, XM_005272546.3:c.466A>G, XM_005272546.2:c.466A>C, XM_005272546.2:c.466A>G, XM_005272546.1:c.466A>C, XM_005272546.1:c.466A>G, XM_011543880.4:c.466A>C, XM_011543880.4:c.466A>G, XM_011543880.3:c.466A>C, XM_011543880.3:c.466A>G, XM_011543880.2:c.466A>C, XM_011543880.2:c.466A>G, XM_011543880.1:c.466A>C, XM_011543880.1:c.466A>G, XM_005272550.4:c.466A>C, XM_005272550.4:c.466A>G, XM_005272550.3:c.466A>C, XM_005272550.3:c.466A>G, XM_005272550.2:c.466A>C, XM_005272550.2:c.466A>G, XM_005272550.1:c.466A>C, XM_005272550.1:c.466A>G, XM_011543879.4:c.466A>C, XM_011543879.4:c.466A>G, XM_011543879.3:c.466A>C, XM_011543879.3:c.466A>G, XM_011543879.2:c.466A>C, XM_011543879.2:c.466A>G, XM_011543879.1:c.466A>C, XM_011543879.1:c.466A>G, XM_005272548.4:c.466A>C, XM_005272548.4:c.466A>G, XM_005272548.3:c.466A>C, XM_005272548.3:c.466A>G, XM_005272548.2:c.466A>C, XM_005272548.2:c.466A>G, XM_005272548.1:c.466A>C, XM_005272548.1:c.466A>G, XM_017022651.3:c.466A>C, XM_017022651.3:c.466A>G, XM_017022651.2:c.466A>C, XM_017022651.2:c.466A>G, XM_017022651.1:c.466A>C, XM_017022651.1:c.466A>G, XM_017022653.3:c.466A>C, XM_017022653.3:c.466A>G, XM_017022653.2:c.466A>C, XM_017022653.2:c.466A>G, XM_017022653.1:c.466A>C, XM_017022653.1:c.466A>G, XM_011543877.3:c.466A>C, XM_011543877.3:c.466A>G, XM_011543877.2:c.466A>C, XM_011543877.2:c.466A>G, XM_011543877.1:c.466A>C, XM_011543877.1:c.466A>G, XM_017022649.3:c.466A>C, XM_017022649.3:c.466A>G, XM_017022649.2:c.466A>C, XM_017022649.2:c.466A>G, XM_017022649.1:c.466A>C, XM_017022649.1:c.466A>G, XM_017022650.3:c.466A>C, XM_017022650.3:c.466A>G, XM_017022650.2:c.466A>C, XM_017022650.2:c.466A>G, XM_017022650.1:c.466A>C, XM_017022650.1:c.466A>G, XM_006720364.3:c.466A>C, XM_006720364.3:c.466A>G, XM_006720364.2:c.466A>C, XM_006720364.2:c.466A>G, XM_006720364.1:c.466A>C, XM_006720364.1:c.466A>G, XM_017022652.3:c.466A>C, XM_017022652.3:c.466A>G, XM_017022652.2:c.466A>C, XM_017022652.2:c.466A>G, XM_017022652.1:c.466A>C, XM_017022652.1:c.466A>G, XM_017022654.3:c.466A>C, XM_017022654.3:c.466A>G, XM_017022654.2:c.466A>C, XM_017022654.2:c.466A>G, XM_017022654.1:c.466A>C, XM_017022654.1:c.466A>G, XM_006720367.2:c.409A>C, XM_006720367.2:c.409A>G, XM_006720367.1:c.409A>C, XM_006720367.1:c.409A>G, XM_017022646.2:c.466A>C, XM_017022646.2:c.466A>G, XM_017022646.1:c.466A>C, XM_017022646.1:c.466A>G, XM_017022647.2:c.466A>C, XM_017022647.2:c.466A>G, XM_017022647.1:c.466A>C, XM_017022647.1:c.466A>G, XM_017022660.2:c.409A>C, XM_017022660.2:c.409A>G, XM_017022660.1:c.409A>C, XM_017022660.1:c.409A>G, XM_017022657.2:c.409A>C, XM_017022657.2:c.409A>G, XM_017022657.1:c.409A>C, XM_017022657.1:c.409A>G, XM_017022659.2:c.409A>C, XM_017022659.2:c.409A>G, XM_017022659.1:c.409A>C, XM_017022659.1:c.409A>G, XM_017022656.2:c.409A>C, XM_017022656.2:c.409A>G, XM_017022656.1:c.409A>C, XM_017022656.1:c.409A>G, XM_017022655.2:c.409A>C, XM_017022655.2:c.409A>G, XM_017022655.1:c.409A>C, XM_017022655.1:c.409A>G, XM_017022662.2:c.409A>C, XM_017022662.2:c.409A>G, XM_017022662.1:c.409A>C, XM_017022662.1:c.409A>G, XM_017022661.2:c.409A>C, XM_017022661.2:c.409A>G, XM_017022661.1:c.409A>C, XM_017022661.1:c.409A>G, XM_017022663.2:c.409A>C, XM_017022663.2:c.409A>G, XM_017022663.1:c.409A>C, XM_017022663.1:c.409A>G, XM_017022658.2:c.409A>C, XM_017022658.2:c.409A>G, XM_017022658.1:c.409A>C, XM_017022658.1:c.409A>G, XM_017022645.2:c.466A>C, XM_017022645.2:c.466A>G, XM_017022645.1:c.466A>C, XM_017022645.1:c.466A>G, XM_047433162.1:c.409A>C, XM_047433162.1:c.409A>G, XM_017022648.2:c.466A>C, XM_017022648.2:c.466A>G, XM_017022648.1:c.466A>C, XM_017022648.1:c.466A>G, XM_047433152.1:c.466A>C, XM_047433152.1:c.466A>G, XM_047433156.1:c.466A>C, XM_047433156.1:c.466A>G, XM_047433150.1:c.466A>C, XM_047433150.1:c.466A>G, XM_047433151.1:c.466A>C, XM_047433151.1:c.466A>G, XM_047433160.1:c.409A>C, XM_047433160.1:c.409A>G, XM_047433161.1:c.409A>C, XM_047433161.1:c.409A>G, XM_047433155.1:c.466A>C, XM_047433155.1:c.466A>G, XM_047433163.1:c.409A>C, XM_047433163.1:c.409A>G, XM_047433157.1:c.466A>C, XM_047433157.1:c.466A>G, XM_047433154.1:c.466A>C, XM_047433154.1:c.466A>G, XM_047433159.1:c.409A>C, XM_047433159.1:c.409A>G, XM_047433153.1:c.466A>C, XM_047433153.1:c.466A>G, XM_047433158.1:c.409A>C, XM_047433158.1:c.409A>G, NP_112184.4:p.Thr156Pro, NP_112184.4:p.Thr156Ala, NP_001008860.1:p.Thr156Pro, NP_001008860.1:p.Thr156Ala, NP_001008892.1:p.Thr156Pro, NP_001008892.1:p.Thr156Ala, NP_001008894.1:p.Thr137Pro, NP_001008894.1:p.Thr137Ala, NP_001171818.1:p.Thr156Pro, NP_001171818.1:p.Thr156Ala, NP_001171817.1:p.Thr137Pro, NP_001171817.1:p.Thr137Ala, XP_005272610.1:p.Thr156Pro, XP_005272610.1:p.Thr156Ala, XP_005272604.1:p.Thr156Pro, XP_005272604.1:p.Thr156Ala, XP_005272609.1:p.Thr156Pro, XP_005272609.1:p.Thr156Ala, XP_011542180.1:p.Thr156Pro, XP_011542180.1:p.Thr156Ala, XP_005272603.1:p.Thr156Pro, XP_005272603.1:p.Thr156Ala, XP_011542182.1:p.Thr156Pro, XP_011542182.1:p.Thr156Ala, XP_005272607.1:p.Thr156Pro, XP_005272607.1:p.Thr156Ala, XP_011542181.1:p.Thr156Pro, XP_011542181.1:p.Thr156Ala, XP_005272605.1:p.Thr156Pro, XP_005272605.1:p.Thr156Ala, XP_016878140.1:p.Thr156Pro, XP_016878140.1:p.Thr156Ala, XP_016878142.1:p.Thr156Pro, XP_016878142.1:p.Thr156Ala, XP_011542179.1:p.Thr156Pro, XP_011542179.1:p.Thr156Ala, XP_016878138.1:p.Thr156Pro, XP_016878138.1:p.Thr156Ala, XP_016878139.1:p.Thr156Pro, XP_016878139.1:p.Thr156Ala, XP_006720427.1:p.Thr156Pro, XP_006720427.1:p.Thr156Ala, XP_016878141.1:p.Thr156Pro, XP_016878141.1:p.Thr156Ala, XP_016878143.1:p.Thr156Pro, XP_016878143.1:p.Thr156Ala, XP_006720430.1:p.Thr137Pro, XP_006720430.1:p.Thr137Ala, XP_016878135.1:p.Thr156Pro, XP_016878135.1:p.Thr156Ala, XP_016878136.1:p.Thr156Pro, XP_016878136.1:p.Thr156Ala, XP_016878149.1:p.Thr137Pro, XP_016878149.1:p.Thr137Ala, XP_016878146.1:p.Thr137Pro, XP_016878146.1:p.Thr137Ala, XP_016878148.1:p.Thr137Pro, XP_016878148.1:p.Thr137Ala, XP_016878145.1:p.Thr137Pro, XP_016878145.1:p.Thr137Ala, XP_016878144.1:p.Thr137Pro, XP_016878144.1:p.Thr137Ala, XP_016878151.1:p.Thr137Pro, XP_016878151.1:p.Thr137Ala, XP_016878150.1:p.Thr137Pro, XP_016878150.1:p.Thr137Ala, XP_016878152.1:p.Thr137Pro, XP_016878152.1:p.Thr137Ala, XP_016878147.1:p.Thr137Pro, XP_016878147.1:p.Thr137Ala, XP_016878134.1:p.Thr156Pro, XP_016878134.1:p.Thr156Ala, XP_047289118.1:p.Thr137Pro, XP_047289118.1:p.Thr137Ala, XP_016878137.1:p.Thr156Pro, XP_016878137.1:p.Thr156Ala, XP_047289108.1:p.Thr156Pro, XP_047289108.1:p.Thr156Ala, XP_047289112.1:p.Thr156Pro, XP_047289112.1:p.Thr156Ala, XP_047289106.1:p.Thr156Pro, XP_047289106.1:p.Thr156Ala, XP_047289107.1:p.Thr156Pro, XP_047289107.1:p.Thr156Ala, XP_047289116.1:p.Thr137Pro, XP_047289116.1:p.Thr137Ala, XP_047289117.1:p.Thr137Pro, XP_047289117.1:p.Thr137Ala, XP_047289111.1:p.Thr156Pro, XP_047289111.1:p.Thr156Ala, XP_047289119.1:p.Thr137Pro, XP_047289119.1:p.Thr137Ala, XP_047289113.1:p.Thr156Pro, XP_047289113.1:p.Thr156Ala, XP_047289110.1:p.Thr156Pro, XP_047289110.1:p.Thr156Ala, XP_047289115.1:p.Thr137Pro, XP_047289115.1:p.Thr137Ala, XP_047289109.1:p.Thr156Pro, XP_047289109.1:p.Thr156Ala, XP_047289114.1:p.Thr137Pro, XP_047289114.1:p.Thr137Ala

            6.

            rs1483615700 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:22866677 (GRCh38)
              15:23006391 (GRCh37)
              Canonical SPDI:
              NC_000015.10:22866676:A:G
              Gene:
              CYFIP1 (Varview), NIPA2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.22866677A>G, NC_000015.9:g.23006391T>C, NG_054889.1:g.119230T>C, NG_021303.1:g.33037A>G, NM_030922.7:c.913A>G, NM_030922.6:c.913A>G, NM_001008860.3:c.913A>G, NM_001008860.2:c.913A>G, NM_001008892.3:c.913A>G, NM_001008892.2:c.913A>G, NM_001008894.3:c.856A>G, NM_001008894.2:c.856A>G, NM_001184889.2:c.913A>G, NM_001184889.1:c.913A>G, NM_001184888.2:c.856A>G, NM_001184888.1:c.856A>G, NW_021160017.1:g.3760756A>G, XM_005272553.6:c.913A>G, XM_005272553.5:c.913A>G, XM_005272553.4:c.913A>G, XM_005272553.3:c.913A>G, XM_005272553.2:c.913A>G, XM_005272553.1:c.913A>G, XM_005272547.5:c.913A>G, XM_005272547.4:c.913A>G, XM_005272547.3:c.913A>G, XM_005272547.2:c.913A>G, XM_005272547.1:c.913A>G, XM_005272552.5:c.913A>G, XM_005272552.4:c.913A>G, XM_005272552.3:c.913A>G, XM_005272552.2:c.913A>G, XM_005272552.1:c.913A>G, XM_011543878.4:c.913A>G, XM_011543878.3:c.913A>G, XM_011543878.2:c.913A>G, XM_011543878.1:c.913A>G, XM_005272546.4:c.913A>G, XM_005272546.3:c.913A>G, XM_005272546.2:c.913A>G, XM_005272546.1:c.913A>G, XM_011543880.4:c.913A>G, XM_011543880.3:c.913A>G, XM_011543880.2:c.913A>G, XM_011543880.1:c.913A>G, XM_005272550.4:c.913A>G, XM_005272550.3:c.913A>G, XM_005272550.2:c.913A>G, XM_005272550.1:c.913A>G, XM_011543879.4:c.913A>G, XM_011543879.3:c.913A>G, XM_011543879.2:c.913A>G, XM_011543879.1:c.913A>G, XM_005272548.4:c.913A>G, XM_005272548.3:c.913A>G, XM_005272548.2:c.913A>G, XM_005272548.1:c.913A>G, XM_017022651.3:c.913A>G, XM_017022651.2:c.913A>G, XM_017022651.1:c.913A>G, XM_017022653.3:c.913A>G, XM_017022653.2:c.913A>G, XM_017022653.1:c.913A>G, XM_011543877.3:c.913A>G, XM_011543877.2:c.913A>G, XM_011543877.1:c.913A>G, XM_017022649.3:c.913A>G, XM_017022649.2:c.913A>G, XM_017022649.1:c.913A>G, XM_017022650.3:c.913A>G, XM_017022650.2:c.913A>G, XM_017022650.1:c.913A>G, XM_006720364.3:c.913A>G, XM_006720364.2:c.913A>G, XM_006720364.1:c.913A>G, XM_017022652.3:c.913A>G, XM_017022652.2:c.913A>G, XM_017022652.1:c.913A>G, XM_017022654.3:c.913A>G, XM_017022654.2:c.913A>G, XM_017022654.1:c.913A>G, XM_006720367.2:c.856A>G, XM_006720367.1:c.856A>G, XM_017022646.2:c.913A>G, XM_017022646.1:c.913A>G, XM_017022647.2:c.913A>G, XM_017022647.1:c.913A>G, XM_017022660.2:c.856A>G, XM_017022660.1:c.856A>G, XM_017022657.2:c.856A>G, XM_017022657.1:c.856A>G, XM_017022659.2:c.856A>G, XM_017022659.1:c.856A>G, XM_017022656.2:c.856A>G, XM_017022656.1:c.856A>G, XM_017022655.2:c.856A>G, XM_017022655.1:c.856A>G, XM_017022662.2:c.856A>G, XM_017022662.1:c.856A>G, XM_017022661.2:c.856A>G, XM_017022661.1:c.856A>G, XM_017022663.2:c.856A>G, XM_017022663.1:c.856A>G, XM_017022658.2:c.856A>G, XM_017022658.1:c.856A>G, XM_017022645.2:c.913A>G, XM_017022645.1:c.913A>G, XM_047433162.1:c.856A>G, XM_017022648.2:c.913A>G, XM_017022648.1:c.913A>G, XM_047433152.1:c.913A>G, XM_047433156.1:c.913A>G, XM_047433150.1:c.913A>G, XM_047433151.1:c.913A>G, XM_047433160.1:c.856A>G, XM_047433161.1:c.856A>G, XM_047433155.1:c.913A>G, XM_047433163.1:c.856A>G, XM_047433157.1:c.913A>G, XM_047433154.1:c.913A>G, XM_047433159.1:c.856A>G, XM_047433153.1:c.913A>G, XM_047433158.1:c.856A>G, NP_112184.4:p.Ser305Gly, NP_001008860.1:p.Ser305Gly, NP_001008892.1:p.Ser305Gly, NP_001008894.1:p.Ser286Gly, NP_001171818.1:p.Ser305Gly, NP_001171817.1:p.Ser286Gly, XP_005272610.1:p.Ser305Gly, XP_005272604.1:p.Ser305Gly, XP_005272609.1:p.Ser305Gly, XP_011542180.1:p.Ser305Gly, XP_005272603.1:p.Ser305Gly, XP_011542182.1:p.Ser305Gly, XP_005272607.1:p.Ser305Gly, XP_011542181.1:p.Ser305Gly, XP_005272605.1:p.Ser305Gly, XP_016878140.1:p.Ser305Gly, XP_016878142.1:p.Ser305Gly, XP_011542179.1:p.Ser305Gly, XP_016878138.1:p.Ser305Gly, XP_016878139.1:p.Ser305Gly, XP_006720427.1:p.Ser305Gly, XP_016878141.1:p.Ser305Gly, XP_016878143.1:p.Ser305Gly, XP_006720430.1:p.Ser286Gly, XP_016878135.1:p.Ser305Gly, XP_016878136.1:p.Ser305Gly, XP_016878149.1:p.Ser286Gly, XP_016878146.1:p.Ser286Gly, XP_016878148.1:p.Ser286Gly, XP_016878145.1:p.Ser286Gly, XP_016878144.1:p.Ser286Gly, XP_016878151.1:p.Ser286Gly, XP_016878150.1:p.Ser286Gly, XP_016878152.1:p.Ser286Gly, XP_016878147.1:p.Ser286Gly, XP_016878134.1:p.Ser305Gly, XP_047289118.1:p.Ser286Gly, XP_016878137.1:p.Ser305Gly, XP_047289108.1:p.Ser305Gly, XP_047289112.1:p.Ser305Gly, XP_047289106.1:p.Ser305Gly, XP_047289107.1:p.Ser305Gly, XP_047289116.1:p.Ser286Gly, XP_047289117.1:p.Ser286Gly, XP_047289111.1:p.Ser305Gly, XP_047289119.1:p.Ser286Gly, XP_047289113.1:p.Ser305Gly, XP_047289110.1:p.Ser305Gly, XP_047289115.1:p.Ser286Gly, XP_047289109.1:p.Ser305Gly, XP_047289114.1:p.Ser286Gly

              7.

              rs1479424413 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                15:22866363 (GRCh38)
                15:23006705 (GRCh37)
                Canonical SPDI:
                NC_000015.10:22866362:G:A,NC_000015.10:22866362:G:C
                Gene:
                NIPA2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000066/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000223/1 (Estonian)
                HGVS:
                NC_000015.10:g.22866363G>A, NC_000015.10:g.22866363G>C, NC_000015.9:g.23006705C>T, NC_000015.9:g.23006705C>G, NG_054889.1:g.119544C>T, NG_054889.1:g.119544C>G, NG_021303.1:g.32723G>A, NG_021303.1:g.32723G>C, NM_030922.7:c.599G>A, NM_030922.7:c.599G>C, NM_030922.6:c.599G>A, NM_030922.6:c.599G>C, NM_001008860.3:c.599G>A, NM_001008860.3:c.599G>C, NM_001008860.2:c.599G>A, NM_001008860.2:c.599G>C, NM_001008892.3:c.599G>A, NM_001008892.3:c.599G>C, NM_001008892.2:c.599G>A, NM_001008892.2:c.599G>C, NM_001008894.3:c.542G>A, NM_001008894.3:c.542G>C, NM_001008894.2:c.542G>A, NM_001008894.2:c.542G>C, NM_001184889.2:c.599G>A, NM_001184889.2:c.599G>C, NM_001184889.1:c.599G>A, NM_001184889.1:c.599G>C, NM_001184888.2:c.542G>A, NM_001184888.2:c.542G>C, NM_001184888.1:c.542G>A, NM_001184888.1:c.542G>C, NW_021160017.1:g.3760442G>A, NW_021160017.1:g.3760442G>C, XM_005272553.6:c.599G>A, XM_005272553.6:c.599G>C, XM_005272553.5:c.599G>A, XM_005272553.5:c.599G>C, XM_005272553.4:c.599G>A, XM_005272553.4:c.599G>C, XM_005272553.3:c.599G>A, XM_005272553.3:c.599G>C, XM_005272553.2:c.599G>A, XM_005272553.2:c.599G>C, XM_005272553.1:c.599G>A, XM_005272553.1:c.599G>C, XM_005272547.5:c.599G>A, XM_005272547.5:c.599G>C, XM_005272547.4:c.599G>A, XM_005272547.4:c.599G>C, XM_005272547.3:c.599G>A, XM_005272547.3:c.599G>C, XM_005272547.2:c.599G>A, XM_005272547.2:c.599G>C, XM_005272547.1:c.599G>A, XM_005272547.1:c.599G>C, XM_005272552.5:c.599G>A, XM_005272552.5:c.599G>C, XM_005272552.4:c.599G>A, XM_005272552.4:c.599G>C, XM_005272552.3:c.599G>A, XM_005272552.3:c.599G>C, XM_005272552.2:c.599G>A, XM_005272552.2:c.599G>C, XM_005272552.1:c.599G>A, XM_005272552.1:c.599G>C, XM_011543878.4:c.599G>A, XM_011543878.4:c.599G>C, XM_011543878.3:c.599G>A, XM_011543878.3:c.599G>C, XM_011543878.2:c.599G>A, XM_011543878.2:c.599G>C, XM_011543878.1:c.599G>A, XM_011543878.1:c.599G>C, XM_005272546.4:c.599G>A, XM_005272546.4:c.599G>C, XM_005272546.3:c.599G>A, XM_005272546.3:c.599G>C, XM_005272546.2:c.599G>A, XM_005272546.2:c.599G>C, XM_005272546.1:c.599G>A, XM_005272546.1:c.599G>C, XM_011543880.4:c.599G>A, XM_011543880.4:c.599G>C, XM_011543880.3:c.599G>A, XM_011543880.3:c.599G>C, XM_011543880.2:c.599G>A, XM_011543880.2:c.599G>C, XM_011543880.1:c.599G>A, XM_011543880.1:c.599G>C, XM_005272550.4:c.599G>A, XM_005272550.4:c.599G>C, XM_005272550.3:c.599G>A, XM_005272550.3:c.599G>C, XM_005272550.2:c.599G>A, XM_005272550.2:c.599G>C, XM_005272550.1:c.599G>A, XM_005272550.1:c.599G>C, XM_011543879.4:c.599G>A, XM_011543879.4:c.599G>C, XM_011543879.3:c.599G>A, XM_011543879.3:c.599G>C, XM_011543879.2:c.599G>A, XM_011543879.2:c.599G>C, XM_011543879.1:c.599G>A, XM_011543879.1:c.599G>C, XM_005272548.4:c.599G>A, XM_005272548.4:c.599G>C, XM_005272548.3:c.599G>A, XM_005272548.3:c.599G>C, XM_005272548.2:c.599G>A, XM_005272548.2:c.599G>C, XM_005272548.1:c.599G>A, XM_005272548.1:c.599G>C, XM_017022651.3:c.599G>A, XM_017022651.3:c.599G>C, XM_017022651.2:c.599G>A, XM_017022651.2:c.599G>C, XM_017022651.1:c.599G>A, XM_017022651.1:c.599G>C, XM_017022653.3:c.599G>A, XM_017022653.3:c.599G>C, XM_017022653.2:c.599G>A, XM_017022653.2:c.599G>C, XM_017022653.1:c.599G>A, XM_017022653.1:c.599G>C, XM_011543877.3:c.599G>A, XM_011543877.3:c.599G>C, XM_011543877.2:c.599G>A, XM_011543877.2:c.599G>C, XM_011543877.1:c.599G>A, XM_011543877.1:c.599G>C, XM_017022649.3:c.599G>A, XM_017022649.3:c.599G>C, XM_017022649.2:c.599G>A, XM_017022649.2:c.599G>C, XM_017022649.1:c.599G>A, XM_017022649.1:c.599G>C, XM_017022650.3:c.599G>A, XM_017022650.3:c.599G>C, XM_017022650.2:c.599G>A, XM_017022650.2:c.599G>C, XM_017022650.1:c.599G>A, XM_017022650.1:c.599G>C, XM_006720364.3:c.599G>A, XM_006720364.3:c.599G>C, XM_006720364.2:c.599G>A, XM_006720364.2:c.599G>C, XM_006720364.1:c.599G>A, XM_006720364.1:c.599G>C, XM_017022652.3:c.599G>A, XM_017022652.3:c.599G>C, XM_017022652.2:c.599G>A, XM_017022652.2:c.599G>C, XM_017022652.1:c.599G>A, XM_017022652.1:c.599G>C, XM_017022654.3:c.599G>A, XM_017022654.3:c.599G>C, XM_017022654.2:c.599G>A, XM_017022654.2:c.599G>C, XM_017022654.1:c.599G>A, XM_017022654.1:c.599G>C, XM_006720367.2:c.542G>A, XM_006720367.2:c.542G>C, XM_006720367.1:c.542G>A, XM_006720367.1:c.542G>C, XM_017022646.2:c.599G>A, XM_017022646.2:c.599G>C, XM_017022646.1:c.599G>A, XM_017022646.1:c.599G>C, XM_017022647.2:c.599G>A, XM_017022647.2:c.599G>C, XM_017022647.1:c.599G>A, XM_017022647.1:c.599G>C, XM_017022660.2:c.542G>A, XM_017022660.2:c.542G>C, XM_017022660.1:c.542G>A, XM_017022660.1:c.542G>C, XM_017022657.2:c.542G>A, XM_017022657.2:c.542G>C, XM_017022657.1:c.542G>A, XM_017022657.1:c.542G>C, XM_017022659.2:c.542G>A, XM_017022659.2:c.542G>C, XM_017022659.1:c.542G>A, XM_017022659.1:c.542G>C, XM_017022656.2:c.542G>A, XM_017022656.2:c.542G>C, XM_017022656.1:c.542G>A, XM_017022656.1:c.542G>C, XM_017022655.2:c.542G>A, XM_017022655.2:c.542G>C, XM_017022655.1:c.542G>A, XM_017022655.1:c.542G>C, XM_017022662.2:c.542G>A, XM_017022662.2:c.542G>C, XM_017022662.1:c.542G>A, XM_017022662.1:c.542G>C, XM_017022661.2:c.542G>A, XM_017022661.2:c.542G>C, XM_017022661.1:c.542G>A, XM_017022661.1:c.542G>C, XM_017022663.2:c.542G>A, XM_017022663.2:c.542G>C, XM_017022663.1:c.542G>A, XM_017022663.1:c.542G>C, XM_017022658.2:c.542G>A, XM_017022658.2:c.542G>C, XM_017022658.1:c.542G>A, XM_017022658.1:c.542G>C, XM_017022645.2:c.599G>A, XM_017022645.2:c.599G>C, XM_017022645.1:c.599G>A, XM_017022645.1:c.599G>C, XM_047433162.1:c.542G>A, XM_047433162.1:c.542G>C, XM_017022648.2:c.599G>A, XM_017022648.2:c.599G>C, XM_017022648.1:c.599G>A, XM_017022648.1:c.599G>C, XM_047433152.1:c.599G>A, XM_047433152.1:c.599G>C, XM_047433156.1:c.599G>A, XM_047433156.1:c.599G>C, XM_047433150.1:c.599G>A, XM_047433150.1:c.599G>C, XM_047433151.1:c.599G>A, XM_047433151.1:c.599G>C, XM_047433160.1:c.542G>A, XM_047433160.1:c.542G>C, XM_047433161.1:c.542G>A, XM_047433161.1:c.542G>C, XM_047433155.1:c.599G>A, XM_047433155.1:c.599G>C, XM_047433163.1:c.542G>A, XM_047433163.1:c.542G>C, XM_047433157.1:c.599G>A, XM_047433157.1:c.599G>C, XM_047433154.1:c.599G>A, XM_047433154.1:c.599G>C, XM_047433159.1:c.542G>A, XM_047433159.1:c.542G>C, XM_047433153.1:c.599G>A, XM_047433153.1:c.599G>C, XM_047433158.1:c.542G>A, XM_047433158.1:c.542G>C, NP_112184.4:p.Gly200Asp, NP_112184.4:p.Gly200Ala, NP_001008860.1:p.Gly200Asp, NP_001008860.1:p.Gly200Ala, NP_001008892.1:p.Gly200Asp, NP_001008892.1:p.Gly200Ala, NP_001008894.1:p.Gly181Asp, NP_001008894.1:p.Gly181Ala, NP_001171818.1:p.Gly200Asp, NP_001171818.1:p.Gly200Ala, NP_001171817.1:p.Gly181Asp, NP_001171817.1:p.Gly181Ala, XP_005272610.1:p.Gly200Asp, XP_005272610.1:p.Gly200Ala, XP_005272604.1:p.Gly200Asp, XP_005272604.1:p.Gly200Ala, XP_005272609.1:p.Gly200Asp, XP_005272609.1:p.Gly200Ala, XP_011542180.1:p.Gly200Asp, XP_011542180.1:p.Gly200Ala, XP_005272603.1:p.Gly200Asp, XP_005272603.1:p.Gly200Ala, XP_011542182.1:p.Gly200Asp, XP_011542182.1:p.Gly200Ala, XP_005272607.1:p.Gly200Asp, XP_005272607.1:p.Gly200Ala, XP_011542181.1:p.Gly200Asp, XP_011542181.1:p.Gly200Ala, XP_005272605.1:p.Gly200Asp, XP_005272605.1:p.Gly200Ala, XP_016878140.1:p.Gly200Asp, XP_016878140.1:p.Gly200Ala, XP_016878142.1:p.Gly200Asp, XP_016878142.1:p.Gly200Ala, XP_011542179.1:p.Gly200Asp, XP_011542179.1:p.Gly200Ala, XP_016878138.1:p.Gly200Asp, XP_016878138.1:p.Gly200Ala, XP_016878139.1:p.Gly200Asp, XP_016878139.1:p.Gly200Ala, XP_006720427.1:p.Gly200Asp, XP_006720427.1:p.Gly200Ala, XP_016878141.1:p.Gly200Asp, XP_016878141.1:p.Gly200Ala, XP_016878143.1:p.Gly200Asp, XP_016878143.1:p.Gly200Ala, XP_006720430.1:p.Gly181Asp, XP_006720430.1:p.Gly181Ala, XP_016878135.1:p.Gly200Asp, XP_016878135.1:p.Gly200Ala, XP_016878136.1:p.Gly200Asp, XP_016878136.1:p.Gly200Ala, XP_016878149.1:p.Gly181Asp, XP_016878149.1:p.Gly181Ala, XP_016878146.1:p.Gly181Asp, XP_016878146.1:p.Gly181Ala, XP_016878148.1:p.Gly181Asp, XP_016878148.1:p.Gly181Ala, XP_016878145.1:p.Gly181Asp, XP_016878145.1:p.Gly181Ala, XP_016878144.1:p.Gly181Asp, XP_016878144.1:p.Gly181Ala, XP_016878151.1:p.Gly181Asp, XP_016878151.1:p.Gly181Ala, XP_016878150.1:p.Gly181Asp, XP_016878150.1:p.Gly181Ala, XP_016878152.1:p.Gly181Asp, XP_016878152.1:p.Gly181Ala, XP_016878147.1:p.Gly181Asp, XP_016878147.1:p.Gly181Ala, XP_016878134.1:p.Gly200Asp, XP_016878134.1:p.Gly200Ala, XP_047289118.1:p.Gly181Asp, XP_047289118.1:p.Gly181Ala, XP_016878137.1:p.Gly200Asp, XP_016878137.1:p.Gly200Ala, XP_047289108.1:p.Gly200Asp, XP_047289108.1:p.Gly200Ala, XP_047289112.1:p.Gly200Asp, XP_047289112.1:p.Gly200Ala, XP_047289106.1:p.Gly200Asp, XP_047289106.1:p.Gly200Ala, XP_047289107.1:p.Gly200Asp, XP_047289107.1:p.Gly200Ala, XP_047289116.1:p.Gly181Asp, XP_047289116.1:p.Gly181Ala, XP_047289117.1:p.Gly181Asp, XP_047289117.1:p.Gly181Ala, XP_047289111.1:p.Gly200Asp, XP_047289111.1:p.Gly200Ala, XP_047289119.1:p.Gly181Asp, XP_047289119.1:p.Gly181Ala, XP_047289113.1:p.Gly200Asp, XP_047289113.1:p.Gly200Ala, XP_047289110.1:p.Gly200Asp, XP_047289110.1:p.Gly200Ala, XP_047289115.1:p.Gly181Asp, XP_047289115.1:p.Gly181Ala, XP_047289109.1:p.Gly200Asp, XP_047289109.1:p.Gly200Ala, XP_047289114.1:p.Gly181Asp, XP_047289114.1:p.Gly181Ala

                8.

                rs1476913114 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  15:22866510 (GRCh38)
                  15:23006558 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:22866509:C:G
                  Gene:
                  NIPA2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000015.10:g.22866510C>G, NC_000015.9:g.23006558G>C, NG_054889.1:g.119397G>C, NG_021303.1:g.32870C>G, NM_030922.7:c.746C>G, NM_030922.6:c.746C>G, NM_001008860.3:c.746C>G, NM_001008860.2:c.746C>G, NM_001008892.3:c.746C>G, NM_001008892.2:c.746C>G, NM_001008894.3:c.689C>G, NM_001008894.2:c.689C>G, NM_001184889.2:c.746C>G, NM_001184889.1:c.746C>G, NM_001184888.2:c.689C>G, NM_001184888.1:c.689C>G, NW_021160017.1:g.3760589C>G, XM_005272553.6:c.746C>G, XM_005272553.5:c.746C>G, XM_005272553.4:c.746C>G, XM_005272553.3:c.746C>G, XM_005272553.2:c.746C>G, XM_005272553.1:c.746C>G, XM_005272547.5:c.746C>G, XM_005272547.4:c.746C>G, XM_005272547.3:c.746C>G, XM_005272547.2:c.746C>G, XM_005272547.1:c.746C>G, XM_005272552.5:c.746C>G, XM_005272552.4:c.746C>G, XM_005272552.3:c.746C>G, XM_005272552.2:c.746C>G, XM_005272552.1:c.746C>G, XM_011543878.4:c.746C>G, XM_011543878.3:c.746C>G, XM_011543878.2:c.746C>G, XM_011543878.1:c.746C>G, XM_005272546.4:c.746C>G, XM_005272546.3:c.746C>G, XM_005272546.2:c.746C>G, XM_005272546.1:c.746C>G, XM_011543880.4:c.746C>G, XM_011543880.3:c.746C>G, XM_011543880.2:c.746C>G, XM_011543880.1:c.746C>G, XM_005272550.4:c.746C>G, XM_005272550.3:c.746C>G, XM_005272550.2:c.746C>G, XM_005272550.1:c.746C>G, XM_011543879.4:c.746C>G, XM_011543879.3:c.746C>G, XM_011543879.2:c.746C>G, XM_011543879.1:c.746C>G, XM_005272548.4:c.746C>G, XM_005272548.3:c.746C>G, XM_005272548.2:c.746C>G, XM_005272548.1:c.746C>G, XM_017022651.3:c.746C>G, XM_017022651.2:c.746C>G, XM_017022651.1:c.746C>G, XM_017022653.3:c.746C>G, XM_017022653.2:c.746C>G, XM_017022653.1:c.746C>G, XM_011543877.3:c.746C>G, XM_011543877.2:c.746C>G, XM_011543877.1:c.746C>G, XM_017022649.3:c.746C>G, XM_017022649.2:c.746C>G, XM_017022649.1:c.746C>G, XM_017022650.3:c.746C>G, XM_017022650.2:c.746C>G, XM_017022650.1:c.746C>G, XM_006720364.3:c.746C>G, XM_006720364.2:c.746C>G, XM_006720364.1:c.746C>G, XM_017022652.3:c.746C>G, XM_017022652.2:c.746C>G, XM_017022652.1:c.746C>G, XM_017022654.3:c.746C>G, XM_017022654.2:c.746C>G, XM_017022654.1:c.746C>G, XM_006720367.2:c.689C>G, XM_006720367.1:c.689C>G, XM_017022646.2:c.746C>G, XM_017022646.1:c.746C>G, XM_017022647.2:c.746C>G, XM_017022647.1:c.746C>G, XM_017022660.2:c.689C>G, XM_017022660.1:c.689C>G, XM_017022657.2:c.689C>G, XM_017022657.1:c.689C>G, XM_017022659.2:c.689C>G, XM_017022659.1:c.689C>G, XM_017022656.2:c.689C>G, XM_017022656.1:c.689C>G, XM_017022655.2:c.689C>G, XM_017022655.1:c.689C>G, XM_017022662.2:c.689C>G, XM_017022662.1:c.689C>G, XM_017022661.2:c.689C>G, XM_017022661.1:c.689C>G, XM_017022663.2:c.689C>G, XM_017022663.1:c.689C>G, XM_017022658.2:c.689C>G, XM_017022658.1:c.689C>G, XM_017022645.2:c.746C>G, XM_017022645.1:c.746C>G, XM_047433162.1:c.689C>G, XM_017022648.2:c.746C>G, XM_017022648.1:c.746C>G, XM_047433152.1:c.746C>G, XM_047433156.1:c.746C>G, XM_047433150.1:c.746C>G, XM_047433151.1:c.746C>G, XM_047433160.1:c.689C>G, XM_047433161.1:c.689C>G, XM_047433155.1:c.746C>G, XM_047433163.1:c.689C>G, XM_047433157.1:c.746C>G, XM_047433154.1:c.746C>G, XM_047433159.1:c.689C>G, XM_047433153.1:c.746C>G, XM_047433158.1:c.689C>G, NP_112184.4:p.Thr249Ser, NP_001008860.1:p.Thr249Ser, NP_001008892.1:p.Thr249Ser, NP_001008894.1:p.Thr230Ser, NP_001171818.1:p.Thr249Ser, NP_001171817.1:p.Thr230Ser, XP_005272610.1:p.Thr249Ser, XP_005272604.1:p.Thr249Ser, XP_005272609.1:p.Thr249Ser, XP_011542180.1:p.Thr249Ser, XP_005272603.1:p.Thr249Ser, XP_011542182.1:p.Thr249Ser, XP_005272607.1:p.Thr249Ser, XP_011542181.1:p.Thr249Ser, XP_005272605.1:p.Thr249Ser, XP_016878140.1:p.Thr249Ser, XP_016878142.1:p.Thr249Ser, XP_011542179.1:p.Thr249Ser, XP_016878138.1:p.Thr249Ser, XP_016878139.1:p.Thr249Ser, XP_006720427.1:p.Thr249Ser, XP_016878141.1:p.Thr249Ser, XP_016878143.1:p.Thr249Ser, XP_006720430.1:p.Thr230Ser, XP_016878135.1:p.Thr249Ser, XP_016878136.1:p.Thr249Ser, XP_016878149.1:p.Thr230Ser, XP_016878146.1:p.Thr230Ser, XP_016878148.1:p.Thr230Ser, XP_016878145.1:p.Thr230Ser, XP_016878144.1:p.Thr230Ser, XP_016878151.1:p.Thr230Ser, XP_016878150.1:p.Thr230Ser, XP_016878152.1:p.Thr230Ser, XP_016878147.1:p.Thr230Ser, XP_016878134.1:p.Thr249Ser, XP_047289118.1:p.Thr230Ser, XP_016878137.1:p.Thr249Ser, XP_047289108.1:p.Thr249Ser, XP_047289112.1:p.Thr249Ser, XP_047289106.1:p.Thr249Ser, XP_047289107.1:p.Thr249Ser, XP_047289116.1:p.Thr230Ser, XP_047289117.1:p.Thr230Ser, XP_047289111.1:p.Thr249Ser, XP_047289119.1:p.Thr230Ser, XP_047289113.1:p.Thr249Ser, XP_047289110.1:p.Thr249Ser, XP_047289115.1:p.Thr230Ser, XP_047289109.1:p.Thr249Ser, XP_047289114.1:p.Thr230Ser

                  9.

                  rs1476219654 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:22866809 (GRCh38)
                    15:23006259 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:22866808:A:G
                    Gene:
                    CYFIP1 (Varview), NIPA2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000015.10:g.22866809A>G, NC_000015.9:g.23006259T>C, NG_054889.1:g.119098T>C, NG_021303.1:g.33169A>G, NM_030922.7:c.1045A>G, NM_030922.6:c.1045A>G, NM_001008860.3:c.1045A>G, NM_001008860.2:c.1045A>G, NM_001008892.3:c.1045A>G, NM_001008892.2:c.1045A>G, NM_001008894.3:c.988A>G, NM_001008894.2:c.988A>G, NM_001184889.2:c.1045A>G, NM_001184889.1:c.1045A>G, NM_001184888.2:c.988A>G, NM_001184888.1:c.988A>G, NW_021160017.1:g.3760888A>G, XM_005272553.6:c.1045A>G, XM_005272553.5:c.1045A>G, XM_005272553.4:c.1045A>G, XM_005272553.3:c.1045A>G, XM_005272553.2:c.1045A>G, XM_005272553.1:c.1045A>G, XM_005272547.5:c.1045A>G, XM_005272547.4:c.1045A>G, XM_005272547.3:c.1045A>G, XM_005272547.2:c.1045A>G, XM_005272547.1:c.1045A>G, XM_005272552.5:c.1045A>G, XM_005272552.4:c.1045A>G, XM_005272552.3:c.1045A>G, XM_005272552.2:c.1045A>G, XM_005272552.1:c.1045A>G, XM_011543878.4:c.1045A>G, XM_011543878.3:c.1045A>G, XM_011543878.2:c.1045A>G, XM_011543878.1:c.1045A>G, XM_005272546.4:c.1045A>G, XM_005272546.3:c.1045A>G, XM_005272546.2:c.1045A>G, XM_005272546.1:c.1045A>G, XM_011543880.4:c.1045A>G, XM_011543880.3:c.1045A>G, XM_011543880.2:c.1045A>G, XM_011543880.1:c.1045A>G, XM_005272550.4:c.1045A>G, XM_005272550.3:c.1045A>G, XM_005272550.2:c.1045A>G, XM_005272550.1:c.1045A>G, XM_011543879.4:c.1045A>G, XM_011543879.3:c.1045A>G, XM_011543879.2:c.1045A>G, XM_011543879.1:c.1045A>G, XM_005272548.4:c.1045A>G, XM_005272548.3:c.1045A>G, XM_005272548.2:c.1045A>G, XM_005272548.1:c.1045A>G, XM_017022651.3:c.1045A>G, XM_017022651.2:c.1045A>G, XM_017022651.1:c.1045A>G, XM_017022653.3:c.1045A>G, XM_017022653.2:c.1045A>G, XM_017022653.1:c.1045A>G, XM_011543877.3:c.1045A>G, XM_011543877.2:c.1045A>G, XM_011543877.1:c.1045A>G, XM_017022649.3:c.1045A>G, XM_017022649.2:c.1045A>G, XM_017022649.1:c.1045A>G, XM_017022650.3:c.1045A>G, XM_017022650.2:c.1045A>G, XM_017022650.1:c.1045A>G, XM_006720364.3:c.1045A>G, XM_006720364.2:c.1045A>G, XM_006720364.1:c.1045A>G, XM_017022652.3:c.1045A>G, XM_017022652.2:c.1045A>G, XM_017022652.1:c.1045A>G, XM_017022654.3:c.1045A>G, XM_017022654.2:c.1045A>G, XM_017022654.1:c.1045A>G, XM_006720367.2:c.988A>G, XM_006720367.1:c.988A>G, XM_017022646.2:c.1045A>G, XM_017022646.1:c.1045A>G, XM_017022647.2:c.1045A>G, XM_017022647.1:c.1045A>G, XM_017022660.2:c.988A>G, XM_017022660.1:c.988A>G, XM_017022657.2:c.988A>G, XM_017022657.1:c.988A>G, XM_017022659.2:c.988A>G, XM_017022659.1:c.988A>G, XM_017022656.2:c.988A>G, XM_017022656.1:c.988A>G, XM_017022655.2:c.988A>G, XM_017022655.1:c.988A>G, XM_017022662.2:c.988A>G, XM_017022662.1:c.988A>G, XM_017022661.2:c.988A>G, XM_017022661.1:c.988A>G, XM_017022663.2:c.988A>G, XM_017022663.1:c.988A>G, XM_017022658.2:c.988A>G, XM_017022658.1:c.988A>G, XM_017022645.2:c.1045A>G, XM_017022645.1:c.1045A>G, XM_047433162.1:c.988A>G, XM_017022648.2:c.1045A>G, XM_017022648.1:c.1045A>G, XM_047433152.1:c.1045A>G, XM_047433156.1:c.1045A>G, XM_047433150.1:c.1045A>G, XM_047433151.1:c.1045A>G, XM_047433160.1:c.988A>G, XM_047433161.1:c.988A>G, XM_047433155.1:c.1045A>G, XM_047433163.1:c.988A>G, XM_047433157.1:c.1045A>G, XM_047433154.1:c.1045A>G, XM_047433159.1:c.988A>G, XM_047433153.1:c.1045A>G, XM_047433158.1:c.988A>G, NP_112184.4:p.Asn349Asp, NP_001008860.1:p.Asn349Asp, NP_001008892.1:p.Asn349Asp, NP_001008894.1:p.Asn330Asp, NP_001171818.1:p.Asn349Asp, NP_001171817.1:p.Asn330Asp, XP_005272610.1:p.Asn349Asp, XP_005272604.1:p.Asn349Asp, XP_005272609.1:p.Asn349Asp, XP_011542180.1:p.Asn349Asp, XP_005272603.1:p.Asn349Asp, XP_011542182.1:p.Asn349Asp, XP_005272607.1:p.Asn349Asp, XP_011542181.1:p.Asn349Asp, XP_005272605.1:p.Asn349Asp, XP_016878140.1:p.Asn349Asp, XP_016878142.1:p.Asn349Asp, XP_011542179.1:p.Asn349Asp, XP_016878138.1:p.Asn349Asp, XP_016878139.1:p.Asn349Asp, XP_006720427.1:p.Asn349Asp, XP_016878141.1:p.Asn349Asp, XP_016878143.1:p.Asn349Asp, XP_006720430.1:p.Asn330Asp, XP_016878135.1:p.Asn349Asp, XP_016878136.1:p.Asn349Asp, XP_016878149.1:p.Asn330Asp, XP_016878146.1:p.Asn330Asp, XP_016878148.1:p.Asn330Asp, XP_016878145.1:p.Asn330Asp, XP_016878144.1:p.Asn330Asp, XP_016878151.1:p.Asn330Asp, XP_016878150.1:p.Asn330Asp, XP_016878152.1:p.Asn330Asp, XP_016878147.1:p.Asn330Asp, XP_016878134.1:p.Asn349Asp, XP_047289118.1:p.Asn330Asp, XP_016878137.1:p.Asn349Asp, XP_047289108.1:p.Asn349Asp, XP_047289112.1:p.Asn349Asp, XP_047289106.1:p.Asn349Asp, XP_047289107.1:p.Asn349Asp, XP_047289116.1:p.Asn330Asp, XP_047289117.1:p.Asn330Asp, XP_047289111.1:p.Asn349Asp, XP_047289119.1:p.Asn330Asp, XP_047289113.1:p.Asn349Asp, XP_047289110.1:p.Asn349Asp, XP_047289115.1:p.Asn330Asp, XP_047289109.1:p.Asn349Asp, XP_047289114.1:p.Asn330Asp

                    10.

                    rs1473977064 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      15:22866753 (GRCh38)
                      15:23006315 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:22866752:T:C,NC_000015.10:22866752:T:G
                      Gene:
                      CYFIP1 (Varview), NIPA2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000045/2 (ALFA)
                      C=0.000008/2 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      C=0.000016/4 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.22866753T>C, NC_000015.10:g.22866753T>G, NC_000015.9:g.23006315A>G, NC_000015.9:g.23006315A>C, NG_054889.1:g.119154A>G, NG_054889.1:g.119154A>C, NG_021303.1:g.33113T>C, NG_021303.1:g.33113T>G, NM_030922.7:c.989T>C, NM_030922.7:c.989T>G, NM_030922.6:c.989T>C, NM_030922.6:c.989T>G, NM_001008860.3:c.989T>C, NM_001008860.3:c.989T>G, NM_001008860.2:c.989T>C, NM_001008860.2:c.989T>G, NM_001008892.3:c.989T>C, NM_001008892.3:c.989T>G, NM_001008892.2:c.989T>C, NM_001008892.2:c.989T>G, NM_001008894.3:c.932T>C, NM_001008894.3:c.932T>G, NM_001008894.2:c.932T>C, NM_001008894.2:c.932T>G, NM_001184889.2:c.989T>C, NM_001184889.2:c.989T>G, NM_001184889.1:c.989T>C, NM_001184889.1:c.989T>G, NM_001184888.2:c.932T>C, NM_001184888.2:c.932T>G, NM_001184888.1:c.932T>C, NM_001184888.1:c.932T>G, NW_021160017.1:g.3760832T>C, NW_021160017.1:g.3760832T>G, XM_005272553.6:c.989T>C, XM_005272553.6:c.989T>G, XM_005272553.5:c.989T>C, XM_005272553.5:c.989T>G, XM_005272553.4:c.989T>C, XM_005272553.4:c.989T>G, XM_005272553.3:c.989T>C, XM_005272553.3:c.989T>G, XM_005272553.2:c.989T>C, XM_005272553.2:c.989T>G, XM_005272553.1:c.989T>C, XM_005272553.1:c.989T>G, XM_005272547.5:c.989T>C, XM_005272547.5:c.989T>G, XM_005272547.4:c.989T>C, XM_005272547.4:c.989T>G, XM_005272547.3:c.989T>C, XM_005272547.3:c.989T>G, XM_005272547.2:c.989T>C, XM_005272547.2:c.989T>G, XM_005272547.1:c.989T>C, XM_005272547.1:c.989T>G, XM_005272552.5:c.989T>C, XM_005272552.5:c.989T>G, XM_005272552.4:c.989T>C, XM_005272552.4:c.989T>G, XM_005272552.3:c.989T>C, XM_005272552.3:c.989T>G, XM_005272552.2:c.989T>C, XM_005272552.2:c.989T>G, XM_005272552.1:c.989T>C, XM_005272552.1:c.989T>G, XM_011543878.4:c.989T>C, XM_011543878.4:c.989T>G, XM_011543878.3:c.989T>C, XM_011543878.3:c.989T>G, XM_011543878.2:c.989T>C, XM_011543878.2:c.989T>G, XM_011543878.1:c.989T>C, XM_011543878.1:c.989T>G, XM_005272546.4:c.989T>C, XM_005272546.4:c.989T>G, XM_005272546.3:c.989T>C, XM_005272546.3:c.989T>G, XM_005272546.2:c.989T>C, XM_005272546.2:c.989T>G, XM_005272546.1:c.989T>C, XM_005272546.1:c.989T>G, XM_011543880.4:c.989T>C, XM_011543880.4:c.989T>G, XM_011543880.3:c.989T>C, XM_011543880.3:c.989T>G, XM_011543880.2:c.989T>C, XM_011543880.2:c.989T>G, XM_011543880.1:c.989T>C, XM_011543880.1:c.989T>G, XM_005272550.4:c.989T>C, XM_005272550.4:c.989T>G, XM_005272550.3:c.989T>C, XM_005272550.3:c.989T>G, XM_005272550.2:c.989T>C, XM_005272550.2:c.989T>G, XM_005272550.1:c.989T>C, XM_005272550.1:c.989T>G, XM_011543879.4:c.989T>C, XM_011543879.4:c.989T>G, XM_011543879.3:c.989T>C, XM_011543879.3:c.989T>G, XM_011543879.2:c.989T>C, XM_011543879.2:c.989T>G, XM_011543879.1:c.989T>C, XM_011543879.1:c.989T>G, XM_005272548.4:c.989T>C, XM_005272548.4:c.989T>G, XM_005272548.3:c.989T>C, XM_005272548.3:c.989T>G, XM_005272548.2:c.989T>C, XM_005272548.2:c.989T>G, XM_005272548.1:c.989T>C, XM_005272548.1:c.989T>G, XM_017022651.3:c.989T>C, XM_017022651.3:c.989T>G, XM_017022651.2:c.989T>C, XM_017022651.2:c.989T>G, XM_017022651.1:c.989T>C, XM_017022651.1:c.989T>G, XM_017022653.3:c.989T>C, XM_017022653.3:c.989T>G, XM_017022653.2:c.989T>C, XM_017022653.2:c.989T>G, XM_017022653.1:c.989T>C, XM_017022653.1:c.989T>G, XM_011543877.3:c.989T>C, XM_011543877.3:c.989T>G, XM_011543877.2:c.989T>C, XM_011543877.2:c.989T>G, XM_011543877.1:c.989T>C, XM_011543877.1:c.989T>G, XM_017022649.3:c.989T>C, XM_017022649.3:c.989T>G, XM_017022649.2:c.989T>C, XM_017022649.2:c.989T>G, XM_017022649.1:c.989T>C, XM_017022649.1:c.989T>G, XM_017022650.3:c.989T>C, XM_017022650.3:c.989T>G, XM_017022650.2:c.989T>C, XM_017022650.2:c.989T>G, XM_017022650.1:c.989T>C, XM_017022650.1:c.989T>G, XM_006720364.3:c.989T>C, XM_006720364.3:c.989T>G, XM_006720364.2:c.989T>C, XM_006720364.2:c.989T>G, XM_006720364.1:c.989T>C, XM_006720364.1:c.989T>G, XM_017022652.3:c.989T>C, XM_017022652.3:c.989T>G, XM_017022652.2:c.989T>C, XM_017022652.2:c.989T>G, XM_017022652.1:c.989T>C, XM_017022652.1:c.989T>G, XM_017022654.3:c.989T>C, XM_017022654.3:c.989T>G, XM_017022654.2:c.989T>C, XM_017022654.2:c.989T>G, XM_017022654.1:c.989T>C, XM_017022654.1:c.989T>G, XM_006720367.2:c.932T>C, XM_006720367.2:c.932T>G, XM_006720367.1:c.932T>C, XM_006720367.1:c.932T>G, XM_017022646.2:c.989T>C, XM_017022646.2:c.989T>G, XM_017022646.1:c.989T>C, XM_017022646.1:c.989T>G, XM_017022647.2:c.989T>C, XM_017022647.2:c.989T>G, XM_017022647.1:c.989T>C, XM_017022647.1:c.989T>G, XM_017022660.2:c.932T>C, XM_017022660.2:c.932T>G, XM_017022660.1:c.932T>C, XM_017022660.1:c.932T>G, XM_017022657.2:c.932T>C, XM_017022657.2:c.932T>G, XM_017022657.1:c.932T>C, XM_017022657.1:c.932T>G, XM_017022659.2:c.932T>C, XM_017022659.2:c.932T>G, XM_017022659.1:c.932T>C, XM_017022659.1:c.932T>G, XM_017022656.2:c.932T>C, XM_017022656.2:c.932T>G, XM_017022656.1:c.932T>C, XM_017022656.1:c.932T>G, XM_017022655.2:c.932T>C, XM_017022655.2:c.932T>G, XM_017022655.1:c.932T>C, XM_017022655.1:c.932T>G, XM_017022662.2:c.932T>C, XM_017022662.2:c.932T>G, XM_017022662.1:c.932T>C, XM_017022662.1:c.932T>G, XM_017022661.2:c.932T>C, XM_017022661.2:c.932T>G, XM_017022661.1:c.932T>C, XM_017022661.1:c.932T>G, XM_017022663.2:c.932T>C, XM_017022663.2:c.932T>G, XM_017022663.1:c.932T>C, XM_017022663.1:c.932T>G, XM_017022658.2:c.932T>C, XM_017022658.2:c.932T>G, XM_017022658.1:c.932T>C, XM_017022658.1:c.932T>G, XM_017022645.2:c.989T>C, XM_017022645.2:c.989T>G, XM_017022645.1:c.989T>C, XM_017022645.1:c.989T>G, XM_047433162.1:c.932T>C, XM_047433162.1:c.932T>G, XM_017022648.2:c.989T>C, XM_017022648.2:c.989T>G, XM_017022648.1:c.989T>C, XM_017022648.1:c.989T>G, XM_047433152.1:c.989T>C, XM_047433152.1:c.989T>G, XM_047433156.1:c.989T>C, XM_047433156.1:c.989T>G, XM_047433150.1:c.989T>C, XM_047433150.1:c.989T>G, XM_047433151.1:c.989T>C, XM_047433151.1:c.989T>G, XM_047433160.1:c.932T>C, XM_047433160.1:c.932T>G, XM_047433161.1:c.932T>C, XM_047433161.1:c.932T>G, XM_047433155.1:c.989T>C, XM_047433155.1:c.989T>G, XM_047433163.1:c.932T>C, XM_047433163.1:c.932T>G, XM_047433157.1:c.989T>C, XM_047433157.1:c.989T>G, XM_047433154.1:c.989T>C, XM_047433154.1:c.989T>G, XM_047433159.1:c.932T>C, XM_047433159.1:c.932T>G, XM_047433153.1:c.989T>C, XM_047433153.1:c.989T>G, XM_047433158.1:c.932T>C, XM_047433158.1:c.932T>G, NP_112184.4:p.Val330Ala, NP_112184.4:p.Val330Gly, NP_001008860.1:p.Val330Ala, NP_001008860.1:p.Val330Gly, NP_001008892.1:p.Val330Ala, NP_001008892.1:p.Val330Gly, NP_001008894.1:p.Val311Ala, NP_001008894.1:p.Val311Gly, NP_001171818.1:p.Val330Ala, NP_001171818.1:p.Val330Gly, NP_001171817.1:p.Val311Ala, NP_001171817.1:p.Val311Gly, XP_005272610.1:p.Val330Ala, XP_005272610.1:p.Val330Gly, XP_005272604.1:p.Val330Ala, XP_005272604.1:p.Val330Gly, XP_005272609.1:p.Val330Ala, XP_005272609.1:p.Val330Gly, XP_011542180.1:p.Val330Ala, XP_011542180.1:p.Val330Gly, XP_005272603.1:p.Val330Ala, XP_005272603.1:p.Val330Gly, XP_011542182.1:p.Val330Ala, XP_011542182.1:p.Val330Gly, XP_005272607.1:p.Val330Ala, XP_005272607.1:p.Val330Gly, XP_011542181.1:p.Val330Ala, XP_011542181.1:p.Val330Gly, XP_005272605.1:p.Val330Ala, XP_005272605.1:p.Val330Gly, XP_016878140.1:p.Val330Ala, XP_016878140.1:p.Val330Gly, XP_016878142.1:p.Val330Ala, XP_016878142.1:p.Val330Gly, XP_011542179.1:p.Val330Ala, XP_011542179.1:p.Val330Gly, XP_016878138.1:p.Val330Ala, XP_016878138.1:p.Val330Gly, XP_016878139.1:p.Val330Ala, XP_016878139.1:p.Val330Gly, XP_006720427.1:p.Val330Ala, XP_006720427.1:p.Val330Gly, XP_016878141.1:p.Val330Ala, XP_016878141.1:p.Val330Gly, XP_016878143.1:p.Val330Ala, XP_016878143.1:p.Val330Gly, XP_006720430.1:p.Val311Ala, XP_006720430.1:p.Val311Gly, XP_016878135.1:p.Val330Ala, XP_016878135.1:p.Val330Gly, XP_016878136.1:p.Val330Ala, XP_016878136.1:p.Val330Gly, XP_016878149.1:p.Val311Ala, XP_016878149.1:p.Val311Gly, XP_016878146.1:p.Val311Ala, XP_016878146.1:p.Val311Gly, XP_016878148.1:p.Val311Ala, XP_016878148.1:p.Val311Gly, XP_016878145.1:p.Val311Ala, XP_016878145.1:p.Val311Gly, XP_016878144.1:p.Val311Ala, XP_016878144.1:p.Val311Gly, XP_016878151.1:p.Val311Ala, XP_016878151.1:p.Val311Gly, XP_016878150.1:p.Val311Ala, XP_016878150.1:p.Val311Gly, XP_016878152.1:p.Val311Ala, XP_016878152.1:p.Val311Gly, XP_016878147.1:p.Val311Ala, XP_016878147.1:p.Val311Gly, XP_016878134.1:p.Val330Ala, XP_016878134.1:p.Val330Gly, XP_047289118.1:p.Val311Ala, XP_047289118.1:p.Val311Gly, XP_016878137.1:p.Val330Ala, XP_016878137.1:p.Val330Gly, XP_047289108.1:p.Val330Ala, XP_047289108.1:p.Val330Gly, XP_047289112.1:p.Val330Ala, XP_047289112.1:p.Val330Gly, XP_047289106.1:p.Val330Ala, XP_047289106.1:p.Val330Gly, XP_047289107.1:p.Val330Ala, XP_047289107.1:p.Val330Gly, XP_047289116.1:p.Val311Ala, XP_047289116.1:p.Val311Gly, XP_047289117.1:p.Val311Ala, XP_047289117.1:p.Val311Gly, XP_047289111.1:p.Val330Ala, XP_047289111.1:p.Val330Gly, XP_047289119.1:p.Val311Ala, XP_047289119.1:p.Val311Gly, XP_047289113.1:p.Val330Ala, XP_047289113.1:p.Val330Gly, XP_047289110.1:p.Val330Ala, XP_047289110.1:p.Val330Gly, XP_047289115.1:p.Val311Ala, XP_047289115.1:p.Val311Gly, XP_047289109.1:p.Val330Ala, XP_047289109.1:p.Val330Gly, XP_047289114.1:p.Val311Ala, XP_047289114.1:p.Val311Gly

                      11.

                      rs1472977487 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:22858594 (GRCh38)
                        15:23014474 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:22858593:T:C
                        Gene:
                        NIPA2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.0001/1 (ALFA)
                        HGVS:
                        NC_000015.10:g.22858594T>C, NC_000015.9:g.23014474A>G, NG_021303.1:g.24954T>C, NM_030922.7:c.251T>C, NM_030922.6:c.251T>C, NM_001008860.3:c.251T>C, NM_001008860.2:c.251T>C, NM_001008892.3:c.251T>C, NM_001008892.2:c.251T>C, NM_001008894.3:c.194T>C, NM_001008894.2:c.194T>C, NM_001184889.2:c.251T>C, NM_001184889.1:c.251T>C, NM_001184888.2:c.194T>C, NM_001184888.1:c.194T>C, NW_021160017.1:g.3752666T>C, XM_005272553.6:c.251T>C, XM_005272553.5:c.251T>C, XM_005272553.4:c.251T>C, XM_005272553.3:c.251T>C, XM_005272553.2:c.251T>C, XM_005272553.1:c.251T>C, XM_005272547.5:c.251T>C, XM_005272547.4:c.251T>C, XM_005272547.3:c.251T>C, XM_005272547.2:c.251T>C, XM_005272547.1:c.251T>C, XM_005272552.5:c.251T>C, XM_005272552.4:c.251T>C, XM_005272552.3:c.251T>C, XM_005272552.2:c.251T>C, XM_005272552.1:c.251T>C, XM_011543878.4:c.251T>C, XM_011543878.3:c.251T>C, XM_011543878.2:c.251T>C, XM_011543878.1:c.251T>C, XM_005272546.4:c.251T>C, XM_005272546.3:c.251T>C, XM_005272546.2:c.251T>C, XM_005272546.1:c.251T>C, XM_011543880.4:c.251T>C, XM_011543880.3:c.251T>C, XM_011543880.2:c.251T>C, XM_011543880.1:c.251T>C, XM_005272550.4:c.251T>C, XM_005272550.3:c.251T>C, XM_005272550.2:c.251T>C, XM_005272550.1:c.251T>C, XM_011543879.4:c.251T>C, XM_011543879.3:c.251T>C, XM_011543879.2:c.251T>C, XM_011543879.1:c.251T>C, XM_005272548.4:c.251T>C, XM_005272548.3:c.251T>C, XM_005272548.2:c.251T>C, XM_005272548.1:c.251T>C, XM_017022653.3:c.251T>C, XM_017022653.2:c.251T>C, XM_017022653.1:c.251T>C, XM_011543877.3:c.251T>C, XM_011543877.2:c.251T>C, XM_011543877.1:c.251T>C, XM_017022649.3:c.251T>C, XM_017022649.2:c.251T>C, XM_017022649.1:c.251T>C, XM_017022650.3:c.251T>C, XM_017022650.2:c.251T>C, XM_017022650.1:c.251T>C, XM_006720364.3:c.251T>C, XM_006720364.2:c.251T>C, XM_006720364.1:c.251T>C, XM_017022652.3:c.251T>C, XM_017022652.2:c.251T>C, XM_017022652.1:c.251T>C, XM_017022654.3:c.251T>C, XM_017022654.2:c.251T>C, XM_017022654.1:c.251T>C, XM_017022651.3:c.251T>C, XM_017022651.2:c.251T>C, XM_017022651.1:c.251T>C, XM_017022645.2:c.251T>C, XM_017022645.1:c.251T>C, XM_017022648.2:c.251T>C, XM_017022648.1:c.251T>C, XM_006720367.2:c.194T>C, XM_006720367.1:c.194T>C, XM_017022647.2:c.251T>C, XM_017022647.1:c.251T>C, XM_017022660.2:c.194T>C, XM_017022660.1:c.194T>C, XM_017022657.2:c.194T>C, XM_017022657.1:c.194T>C, XM_017022659.2:c.194T>C, XM_017022659.1:c.194T>C, XM_017022656.2:c.194T>C, XM_017022656.1:c.194T>C, XM_017022655.2:c.194T>C, XM_017022655.1:c.194T>C, XM_017022662.2:c.194T>C, XM_017022662.1:c.194T>C, XM_017022658.2:c.194T>C, XM_017022658.1:c.194T>C, XM_017022646.2:c.251T>C, XM_017022646.1:c.251T>C, XM_017022661.2:c.194T>C, XM_017022661.1:c.194T>C, XM_017022663.2:c.194T>C, XM_017022663.1:c.194T>C, XM_047433156.1:c.251T>C, XM_047433158.1:c.194T>C, XM_047433159.1:c.194T>C, XM_047433151.1:c.251T>C, XM_047433160.1:c.194T>C, XM_047433153.1:c.251T>C, XM_047433161.1:c.194T>C, XM_047433155.1:c.251T>C, XM_047433152.1:c.251T>C, XM_047433150.1:c.251T>C, XM_047433162.1:c.194T>C, XM_047433154.1:c.251T>C, XM_047433157.1:c.251T>C, XM_047433163.1:c.194T>C, NP_112184.4:p.Leu84Pro, NP_001008860.1:p.Leu84Pro, NP_001008892.1:p.Leu84Pro, NP_001008894.1:p.Leu65Pro, NP_001171818.1:p.Leu84Pro, NP_001171817.1:p.Leu65Pro, XP_005272610.1:p.Leu84Pro, XP_005272604.1:p.Leu84Pro, XP_005272609.1:p.Leu84Pro, XP_011542180.1:p.Leu84Pro, XP_005272603.1:p.Leu84Pro, XP_011542182.1:p.Leu84Pro, XP_005272607.1:p.Leu84Pro, XP_011542181.1:p.Leu84Pro, XP_005272605.1:p.Leu84Pro, XP_016878142.1:p.Leu84Pro, XP_011542179.1:p.Leu84Pro, XP_016878138.1:p.Leu84Pro, XP_016878139.1:p.Leu84Pro, XP_006720427.1:p.Leu84Pro, XP_016878141.1:p.Leu84Pro, XP_016878143.1:p.Leu84Pro, XP_016878140.1:p.Leu84Pro, XP_016878134.1:p.Leu84Pro, XP_016878137.1:p.Leu84Pro, XP_006720430.1:p.Leu65Pro, XP_016878136.1:p.Leu84Pro, XP_016878149.1:p.Leu65Pro, XP_016878146.1:p.Leu65Pro, XP_016878148.1:p.Leu65Pro, XP_016878145.1:p.Leu65Pro, XP_016878144.1:p.Leu65Pro, XP_016878151.1:p.Leu65Pro, XP_016878147.1:p.Leu65Pro, XP_016878135.1:p.Leu84Pro, XP_016878150.1:p.Leu65Pro, XP_016878152.1:p.Leu65Pro, XP_047289112.1:p.Leu84Pro, XP_047289114.1:p.Leu65Pro, XP_047289115.1:p.Leu65Pro, XP_047289107.1:p.Leu84Pro, XP_047289116.1:p.Leu65Pro, XP_047289109.1:p.Leu84Pro, XP_047289117.1:p.Leu65Pro, XP_047289111.1:p.Leu84Pro, XP_047289108.1:p.Leu84Pro, XP_047289106.1:p.Leu84Pro, XP_047289118.1:p.Leu65Pro, XP_047289110.1:p.Leu84Pro, XP_047289113.1:p.Leu84Pro, XP_047289119.1:p.Leu65Pro

                        12.

                        rs1471455169 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:22858547 (GRCh38)
                          15:23014521 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:22858546:T:C
                          Gene:
                          NIPA2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000015.10:g.22858547T>C, NC_000015.9:g.23014521A>G, NG_021303.1:g.24907T>C, NM_030922.7:c.204T>C, NM_030922.6:c.204T>C, NM_001008860.3:c.204T>C, NM_001008860.2:c.204T>C, NM_001008892.3:c.204T>C, NM_001008892.2:c.204T>C, NM_001008894.3:c.147T>C, NM_001008894.2:c.147T>C, NM_001184889.2:c.204T>C, NM_001184889.1:c.204T>C, NM_001184888.2:c.147T>C, NM_001184888.1:c.147T>C, NW_021160017.1:g.3752619T>C, XM_005272553.6:c.204T>C, XM_005272553.5:c.204T>C, XM_005272553.4:c.204T>C, XM_005272553.3:c.204T>C, XM_005272553.2:c.204T>C, XM_005272553.1:c.204T>C, XM_005272547.5:c.204T>C, XM_005272547.4:c.204T>C, XM_005272547.3:c.204T>C, XM_005272547.2:c.204T>C, XM_005272547.1:c.204T>C, XM_005272552.5:c.204T>C, XM_005272552.4:c.204T>C, XM_005272552.3:c.204T>C, XM_005272552.2:c.204T>C, XM_005272552.1:c.204T>C, XM_011543878.4:c.204T>C, XM_011543878.3:c.204T>C, XM_011543878.2:c.204T>C, XM_011543878.1:c.204T>C, XM_005272546.4:c.204T>C, XM_005272546.3:c.204T>C, XM_005272546.2:c.204T>C, XM_005272546.1:c.204T>C, XM_011543880.4:c.204T>C, XM_011543880.3:c.204T>C, XM_011543880.2:c.204T>C, XM_011543880.1:c.204T>C, XM_005272550.4:c.204T>C, XM_005272550.3:c.204T>C, XM_005272550.2:c.204T>C, XM_005272550.1:c.204T>C, XM_011543879.4:c.204T>C, XM_011543879.3:c.204T>C, XM_011543879.2:c.204T>C, XM_011543879.1:c.204T>C, XM_005272548.4:c.204T>C, XM_005272548.3:c.204T>C, XM_005272548.2:c.204T>C, XM_005272548.1:c.204T>C, XM_017022653.3:c.204T>C, XM_017022653.2:c.204T>C, XM_017022653.1:c.204T>C, XM_011543877.3:c.204T>C, XM_011543877.2:c.204T>C, XM_011543877.1:c.204T>C, XM_017022649.3:c.204T>C, XM_017022649.2:c.204T>C, XM_017022649.1:c.204T>C, XM_017022650.3:c.204T>C, XM_017022650.2:c.204T>C, XM_017022650.1:c.204T>C, XM_006720364.3:c.204T>C, XM_006720364.2:c.204T>C, XM_006720364.1:c.204T>C, XM_017022652.3:c.204T>C, XM_017022652.2:c.204T>C, XM_017022652.1:c.204T>C, XM_017022654.3:c.204T>C, XM_017022654.2:c.204T>C, XM_017022654.1:c.204T>C, XM_017022651.3:c.204T>C, XM_017022651.2:c.204T>C, XM_017022651.1:c.204T>C, XM_017022645.2:c.204T>C, XM_017022645.1:c.204T>C, XM_017022648.2:c.204T>C, XM_017022648.1:c.204T>C, XM_006720367.2:c.147T>C, XM_006720367.1:c.147T>C, XM_017022647.2:c.204T>C, XM_017022647.1:c.204T>C, XM_017022660.2:c.147T>C, XM_017022660.1:c.147T>C, XM_017022657.2:c.147T>C, XM_017022657.1:c.147T>C, XM_017022659.2:c.147T>C, XM_017022659.1:c.147T>C, XM_017022656.2:c.147T>C, XM_017022656.1:c.147T>C, XM_017022655.2:c.147T>C, XM_017022655.1:c.147T>C, XM_017022662.2:c.147T>C, XM_017022662.1:c.147T>C, XM_017022658.2:c.147T>C, XM_017022658.1:c.147T>C, XM_017022646.2:c.204T>C, XM_017022646.1:c.204T>C, XM_017022661.2:c.147T>C, XM_017022661.1:c.147T>C, XM_017022663.2:c.147T>C, XM_017022663.1:c.147T>C, XM_047433156.1:c.204T>C, XM_047433158.1:c.147T>C, XM_047433159.1:c.147T>C, XM_047433151.1:c.204T>C, XM_047433160.1:c.147T>C, XM_047433153.1:c.204T>C, XM_047433161.1:c.147T>C, XM_047433155.1:c.204T>C, XM_047433152.1:c.204T>C, XM_047433150.1:c.204T>C, XM_047433162.1:c.147T>C, XM_047433154.1:c.204T>C, XM_047433157.1:c.204T>C, XM_047433163.1:c.147T>C

                          13.

                          rs1466572647 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:22866355 (GRCh38)
                            15:23006713 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:22866354:G:A,NC_000015.10:22866354:G:T
                            Gene:
                            NIPA2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,missense_variant
                            HGVS:
                            NC_000015.10:g.22866355G>A, NC_000015.10:g.22866355G>T, NC_000015.9:g.23006713C>T, NC_000015.9:g.23006713C>A, NG_054889.1:g.119552C>T, NG_054889.1:g.119552C>A, NG_021303.1:g.32715G>A, NG_021303.1:g.32715G>T, NM_030922.7:c.591G>A, NM_030922.7:c.591G>T, NM_030922.6:c.591G>A, NM_030922.6:c.591G>T, NM_001008860.3:c.591G>A, NM_001008860.3:c.591G>T, NM_001008860.2:c.591G>A, NM_001008860.2:c.591G>T, NM_001008892.3:c.591G>A, NM_001008892.3:c.591G>T, NM_001008892.2:c.591G>A, NM_001008892.2:c.591G>T, NM_001008894.3:c.534G>A, NM_001008894.3:c.534G>T, NM_001008894.2:c.534G>A, NM_001008894.2:c.534G>T, NM_001184889.2:c.591G>A, NM_001184889.2:c.591G>T, NM_001184889.1:c.591G>A, NM_001184889.1:c.591G>T, NM_001184888.2:c.534G>A, NM_001184888.2:c.534G>T, NM_001184888.1:c.534G>A, NM_001184888.1:c.534G>T, NW_021160017.1:g.3760434G>A, NW_021160017.1:g.3760434G>T, XM_005272553.6:c.591G>A, XM_005272553.6:c.591G>T, XM_005272553.5:c.591G>A, XM_005272553.5:c.591G>T, XM_005272553.4:c.591G>A, XM_005272553.4:c.591G>T, XM_005272553.3:c.591G>A, XM_005272553.3:c.591G>T, XM_005272553.2:c.591G>A, XM_005272553.2:c.591G>T, XM_005272553.1:c.591G>A, XM_005272553.1:c.591G>T, XM_005272547.5:c.591G>A, XM_005272547.5:c.591G>T, XM_005272547.4:c.591G>A, XM_005272547.4:c.591G>T, XM_005272547.3:c.591G>A, XM_005272547.3:c.591G>T, XM_005272547.2:c.591G>A, XM_005272547.2:c.591G>T, XM_005272547.1:c.591G>A, XM_005272547.1:c.591G>T, XM_005272552.5:c.591G>A, XM_005272552.5:c.591G>T, XM_005272552.4:c.591G>A, XM_005272552.4:c.591G>T, XM_005272552.3:c.591G>A, XM_005272552.3:c.591G>T, XM_005272552.2:c.591G>A, XM_005272552.2:c.591G>T, XM_005272552.1:c.591G>A, XM_005272552.1:c.591G>T, XM_011543878.4:c.591G>A, XM_011543878.4:c.591G>T, XM_011543878.3:c.591G>A, XM_011543878.3:c.591G>T, XM_011543878.2:c.591G>A, XM_011543878.2:c.591G>T, XM_011543878.1:c.591G>A, XM_011543878.1:c.591G>T, XM_005272546.4:c.591G>A, XM_005272546.4:c.591G>T, XM_005272546.3:c.591G>A, XM_005272546.3:c.591G>T, XM_005272546.2:c.591G>A, XM_005272546.2:c.591G>T, XM_005272546.1:c.591G>A, XM_005272546.1:c.591G>T, XM_011543880.4:c.591G>A, XM_011543880.4:c.591G>T, XM_011543880.3:c.591G>A, XM_011543880.3:c.591G>T, XM_011543880.2:c.591G>A, XM_011543880.2:c.591G>T, XM_011543880.1:c.591G>A, XM_011543880.1:c.591G>T, XM_005272550.4:c.591G>A, XM_005272550.4:c.591G>T, XM_005272550.3:c.591G>A, XM_005272550.3:c.591G>T, XM_005272550.2:c.591G>A, XM_005272550.2:c.591G>T, XM_005272550.1:c.591G>A, XM_005272550.1:c.591G>T, XM_011543879.4:c.591G>A, XM_011543879.4:c.591G>T, XM_011543879.3:c.591G>A, XM_011543879.3:c.591G>T, XM_011543879.2:c.591G>A, XM_011543879.2:c.591G>T, XM_011543879.1:c.591G>A, XM_011543879.1:c.591G>T, XM_005272548.4:c.591G>A, XM_005272548.4:c.591G>T, XM_005272548.3:c.591G>A, XM_005272548.3:c.591G>T, XM_005272548.2:c.591G>A, XM_005272548.2:c.591G>T, XM_005272548.1:c.591G>A, XM_005272548.1:c.591G>T, XM_017022651.3:c.591G>A, XM_017022651.3:c.591G>T, XM_017022651.2:c.591G>A, XM_017022651.2:c.591G>T, XM_017022651.1:c.591G>A, XM_017022651.1:c.591G>T, XM_017022653.3:c.591G>A, XM_017022653.3:c.591G>T, XM_017022653.2:c.591G>A, XM_017022653.2:c.591G>T, XM_017022653.1:c.591G>A, XM_017022653.1:c.591G>T, XM_011543877.3:c.591G>A, XM_011543877.3:c.591G>T, XM_011543877.2:c.591G>A, XM_011543877.2:c.591G>T, XM_011543877.1:c.591G>A, XM_011543877.1:c.591G>T, XM_017022649.3:c.591G>A, XM_017022649.3:c.591G>T, XM_017022649.2:c.591G>A, XM_017022649.2:c.591G>T, XM_017022649.1:c.591G>A, XM_017022649.1:c.591G>T, XM_017022650.3:c.591G>A, XM_017022650.3:c.591G>T, XM_017022650.2:c.591G>A, XM_017022650.2:c.591G>T, XM_017022650.1:c.591G>A, XM_017022650.1:c.591G>T, XM_006720364.3:c.591G>A, XM_006720364.3:c.591G>T, XM_006720364.2:c.591G>A, XM_006720364.2:c.591G>T, XM_006720364.1:c.591G>A, XM_006720364.1:c.591G>T, XM_017022652.3:c.591G>A, XM_017022652.3:c.591G>T, XM_017022652.2:c.591G>A, XM_017022652.2:c.591G>T, XM_017022652.1:c.591G>A, XM_017022652.1:c.591G>T, XM_017022654.3:c.591G>A, XM_017022654.3:c.591G>T, XM_017022654.2:c.591G>A, XM_017022654.2:c.591G>T, XM_017022654.1:c.591G>A, XM_017022654.1:c.591G>T, XM_006720367.2:c.534G>A, XM_006720367.2:c.534G>T, XM_006720367.1:c.534G>A, XM_006720367.1:c.534G>T, XM_017022646.2:c.591G>A, XM_017022646.2:c.591G>T, XM_017022646.1:c.591G>A, XM_017022646.1:c.591G>T, XM_017022647.2:c.591G>A, XM_017022647.2:c.591G>T, XM_017022647.1:c.591G>A, XM_017022647.1:c.591G>T, XM_017022660.2:c.534G>A, XM_017022660.2:c.534G>T, XM_017022660.1:c.534G>A, XM_017022660.1:c.534G>T, XM_017022657.2:c.534G>A, XM_017022657.2:c.534G>T, XM_017022657.1:c.534G>A, XM_017022657.1:c.534G>T, XM_017022659.2:c.534G>A, XM_017022659.2:c.534G>T, XM_017022659.1:c.534G>A, XM_017022659.1:c.534G>T, XM_017022656.2:c.534G>A, XM_017022656.2:c.534G>T, XM_017022656.1:c.534G>A, XM_017022656.1:c.534G>T, XM_017022655.2:c.534G>A, XM_017022655.2:c.534G>T, XM_017022655.1:c.534G>A, XM_017022655.1:c.534G>T, XM_017022662.2:c.534G>A, XM_017022662.2:c.534G>T, XM_017022662.1:c.534G>A, XM_017022662.1:c.534G>T, XM_017022661.2:c.534G>A, XM_017022661.2:c.534G>T, XM_017022661.1:c.534G>A, XM_017022661.1:c.534G>T, XM_017022663.2:c.534G>A, XM_017022663.2:c.534G>T, XM_017022663.1:c.534G>A, XM_017022663.1:c.534G>T, XM_017022658.2:c.534G>A, XM_017022658.2:c.534G>T, XM_017022658.1:c.534G>A, XM_017022658.1:c.534G>T, XM_017022645.2:c.591G>A, XM_017022645.2:c.591G>T, XM_017022645.1:c.591G>A, XM_017022645.1:c.591G>T, XM_047433162.1:c.534G>A, XM_047433162.1:c.534G>T, XM_017022648.2:c.591G>A, XM_017022648.2:c.591G>T, XM_017022648.1:c.591G>A, XM_017022648.1:c.591G>T, XM_047433152.1:c.591G>A, XM_047433152.1:c.591G>T, XM_047433156.1:c.591G>A, XM_047433156.1:c.591G>T, XM_047433150.1:c.591G>A, XM_047433150.1:c.591G>T, XM_047433151.1:c.591G>A, XM_047433151.1:c.591G>T, XM_047433160.1:c.534G>A, XM_047433160.1:c.534G>T, XM_047433161.1:c.534G>A, XM_047433161.1:c.534G>T, XM_047433155.1:c.591G>A, XM_047433155.1:c.591G>T, XM_047433163.1:c.534G>A, XM_047433163.1:c.534G>T, XM_047433157.1:c.591G>A, XM_047433157.1:c.591G>T, XM_047433154.1:c.591G>A, XM_047433154.1:c.591G>T, XM_047433159.1:c.534G>A, XM_047433159.1:c.534G>T, XM_047433153.1:c.591G>A, XM_047433153.1:c.591G>T, XM_047433158.1:c.534G>A, XM_047433158.1:c.534G>T, NP_112184.4:p.Lys197Asn, NP_001008860.1:p.Lys197Asn, NP_001008892.1:p.Lys197Asn, NP_001008894.1:p.Lys178Asn, NP_001171818.1:p.Lys197Asn, NP_001171817.1:p.Lys178Asn, XP_005272610.1:p.Lys197Asn, XP_005272604.1:p.Lys197Asn, XP_005272609.1:p.Lys197Asn, XP_011542180.1:p.Lys197Asn, XP_005272603.1:p.Lys197Asn, XP_011542182.1:p.Lys197Asn, XP_005272607.1:p.Lys197Asn, XP_011542181.1:p.Lys197Asn, XP_005272605.1:p.Lys197Asn, XP_016878140.1:p.Lys197Asn, XP_016878142.1:p.Lys197Asn, XP_011542179.1:p.Lys197Asn, XP_016878138.1:p.Lys197Asn, XP_016878139.1:p.Lys197Asn, XP_006720427.1:p.Lys197Asn, XP_016878141.1:p.Lys197Asn, XP_016878143.1:p.Lys197Asn, XP_006720430.1:p.Lys178Asn, XP_016878135.1:p.Lys197Asn, XP_016878136.1:p.Lys197Asn, XP_016878149.1:p.Lys178Asn, XP_016878146.1:p.Lys178Asn, XP_016878148.1:p.Lys178Asn, XP_016878145.1:p.Lys178Asn, XP_016878144.1:p.Lys178Asn, XP_016878151.1:p.Lys178Asn, XP_016878150.1:p.Lys178Asn, XP_016878152.1:p.Lys178Asn, XP_016878147.1:p.Lys178Asn, XP_016878134.1:p.Lys197Asn, XP_047289118.1:p.Lys178Asn, XP_016878137.1:p.Lys197Asn, XP_047289108.1:p.Lys197Asn, XP_047289112.1:p.Lys197Asn, XP_047289106.1:p.Lys197Asn, XP_047289107.1:p.Lys197Asn, XP_047289116.1:p.Lys178Asn, XP_047289117.1:p.Lys178Asn, XP_047289111.1:p.Lys197Asn, XP_047289119.1:p.Lys178Asn, XP_047289113.1:p.Lys197Asn, XP_047289110.1:p.Lys197Asn, XP_047289115.1:p.Lys178Asn, XP_047289109.1:p.Lys197Asn, XP_047289114.1:p.Lys178Asn

                            14.

                            rs1465413487 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              15:22853234 (GRCh38)
                              15:23019834 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:22853233:T:G
                              Gene:
                              NIPA2 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000015.10:g.22853234T>G, NC_000015.9:g.23019834A>C, NG_021303.1:g.19594T>G, NM_030922.7:c.162T>G, NM_030922.6:c.162T>G, NM_001008860.3:c.162T>G, NM_001008860.2:c.162T>G, NM_001008892.3:c.162T>G, NM_001008892.2:c.162T>G, NM_001184889.2:c.162T>G, NM_001184889.1:c.162T>G, NW_021160017.1:g.3747309T>G, XM_005272553.6:c.162T>G, XM_005272553.5:c.162T>G, XM_005272553.4:c.162T>G, XM_005272553.3:c.162T>G, XM_005272553.2:c.162T>G, XM_005272553.1:c.162T>G, XM_005272547.5:c.162T>G, XM_005272547.4:c.162T>G, XM_005272547.3:c.162T>G, XM_005272547.2:c.162T>G, XM_005272547.1:c.162T>G, XM_005272552.5:c.162T>G, XM_005272552.4:c.162T>G, XM_005272552.3:c.162T>G, XM_005272552.2:c.162T>G, XM_005272552.1:c.162T>G, XM_011543878.4:c.162T>G, XM_011543878.3:c.162T>G, XM_011543878.2:c.162T>G, XM_011543878.1:c.162T>G, XM_005272546.4:c.162T>G, XM_005272546.3:c.162T>G, XM_005272546.2:c.162T>G, XM_005272546.1:c.162T>G, XM_011543880.4:c.162T>G, XM_011543880.3:c.162T>G, XM_011543880.2:c.162T>G, XM_011543880.1:c.162T>G, XM_005272550.4:c.162T>G, XM_005272550.3:c.162T>G, XM_005272550.2:c.162T>G, XM_005272550.1:c.162T>G, XM_011543879.4:c.162T>G, XM_011543879.3:c.162T>G, XM_011543879.2:c.162T>G, XM_011543879.1:c.162T>G, XM_005272548.4:c.162T>G, XM_005272548.3:c.162T>G, XM_005272548.2:c.162T>G, XM_005272548.1:c.162T>G, XM_017022653.3:c.162T>G, XM_017022653.2:c.162T>G, XM_017022653.1:c.162T>G, XM_011543877.3:c.162T>G, XM_011543877.2:c.162T>G, XM_011543877.1:c.162T>G, XM_017022649.3:c.162T>G, XM_017022649.2:c.162T>G, XM_017022649.1:c.162T>G, XM_017022650.3:c.162T>G, XM_017022650.2:c.162T>G, XM_017022650.1:c.162T>G, XM_006720364.3:c.162T>G, XM_006720364.2:c.162T>G, XM_006720364.1:c.162T>G, XM_017022652.3:c.162T>G, XM_017022652.2:c.162T>G, XM_017022652.1:c.162T>G, XM_017022654.3:c.162T>G, XM_017022654.2:c.162T>G, XM_017022654.1:c.162T>G, XM_017022651.3:c.162T>G, XM_017022651.2:c.162T>G, XM_017022651.1:c.162T>G, XM_017022645.2:c.162T>G, XM_017022645.1:c.162T>G, XM_017022648.2:c.162T>G, XM_017022648.1:c.162T>G, XM_017022647.2:c.162T>G, XM_017022647.1:c.162T>G, XM_017022646.2:c.162T>G, XM_017022646.1:c.162T>G, XM_047433156.1:c.162T>G, XM_047433151.1:c.162T>G, XM_047433153.1:c.162T>G, XM_047433154.1:c.162T>G, XM_047433155.1:c.162T>G, XM_047433152.1:c.162T>G, XM_047433150.1:c.162T>G, XM_047433157.1:c.162T>G

                              15.

                              rs1462916110 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:22853267 (GRCh38)
                                15:23019801 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:22853266:A:G
                                Gene:
                                NIPA2 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000015.10:g.22853267A>G, NC_000015.9:g.23019801T>C, NG_021303.1:g.19627A>G, NM_030922.7:c.195A>G, NM_030922.6:c.195A>G, NM_001008860.3:c.195A>G, NM_001008860.2:c.195A>G, NM_001008892.3:c.195A>G, NM_001008892.2:c.195A>G, NM_001184889.2:c.195A>G, NM_001184889.1:c.195A>G, NW_021160017.1:g.3747342A>G, XM_005272553.6:c.195A>G, XM_005272553.5:c.195A>G, XM_005272553.4:c.195A>G, XM_005272553.3:c.195A>G, XM_005272553.2:c.195A>G, XM_005272553.1:c.195A>G, XM_005272547.5:c.195A>G, XM_005272547.4:c.195A>G, XM_005272547.3:c.195A>G, XM_005272547.2:c.195A>G, XM_005272547.1:c.195A>G, XM_005272552.5:c.195A>G, XM_005272552.4:c.195A>G, XM_005272552.3:c.195A>G, XM_005272552.2:c.195A>G, XM_005272552.1:c.195A>G, XM_011543878.4:c.195A>G, XM_011543878.3:c.195A>G, XM_011543878.2:c.195A>G, XM_011543878.1:c.195A>G, XM_005272546.4:c.195A>G, XM_005272546.3:c.195A>G, XM_005272546.2:c.195A>G, XM_005272546.1:c.195A>G, XM_011543880.4:c.195A>G, XM_011543880.3:c.195A>G, XM_011543880.2:c.195A>G, XM_011543880.1:c.195A>G, XM_005272550.4:c.195A>G, XM_005272550.3:c.195A>G, XM_005272550.2:c.195A>G, XM_005272550.1:c.195A>G, XM_011543879.4:c.195A>G, XM_011543879.3:c.195A>G, XM_011543879.2:c.195A>G, XM_011543879.1:c.195A>G, XM_005272548.4:c.195A>G, XM_005272548.3:c.195A>G, XM_005272548.2:c.195A>G, XM_005272548.1:c.195A>G, XM_017022653.3:c.195A>G, XM_017022653.2:c.195A>G, XM_017022653.1:c.195A>G, XM_011543877.3:c.195A>G, XM_011543877.2:c.195A>G, XM_011543877.1:c.195A>G, XM_017022649.3:c.195A>G, XM_017022649.2:c.195A>G, XM_017022649.1:c.195A>G, XM_017022650.3:c.195A>G, XM_017022650.2:c.195A>G, XM_017022650.1:c.195A>G, XM_006720364.3:c.195A>G, XM_006720364.2:c.195A>G, XM_006720364.1:c.195A>G, XM_017022652.3:c.195A>G, XM_017022652.2:c.195A>G, XM_017022652.1:c.195A>G, XM_017022654.3:c.195A>G, XM_017022654.2:c.195A>G, XM_017022654.1:c.195A>G, XM_017022651.3:c.195A>G, XM_017022651.2:c.195A>G, XM_017022651.1:c.195A>G, XM_017022645.2:c.195A>G, XM_017022645.1:c.195A>G, XM_017022648.2:c.195A>G, XM_017022648.1:c.195A>G, XM_017022647.2:c.195A>G, XM_017022647.1:c.195A>G, XM_017022646.2:c.195A>G, XM_017022646.1:c.195A>G, XM_047433156.1:c.195A>G, XM_047433151.1:c.195A>G, XM_047433153.1:c.195A>G, XM_047433154.1:c.195A>G, XM_047433155.1:c.195A>G, XM_047433152.1:c.195A>G, XM_047433150.1:c.195A>G, XM_047433157.1:c.195A>G

                                16.

                                rs1462622686 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  15:22851857 (GRCh38)
                                  15:23021211 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:22851856:C:A
                                  Gene:
                                  NIPA2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000015.10:g.22851857C>A, NC_000015.9:g.23021211G>T, NG_021303.1:g.18217C>A, NM_030922.7:c.126C>A, NM_030922.6:c.126C>A, NM_001008860.3:c.126C>A, NM_001008860.2:c.126C>A, NM_001008892.3:c.126C>A, NM_001008892.2:c.126C>A, NM_001008894.3:c.126C>A, NM_001008894.2:c.126C>A, NM_001184889.2:c.126C>A, NM_001184889.1:c.126C>A, NM_001184888.2:c.126C>A, NM_001184888.1:c.126C>A, NW_021160017.1:g.3745932C>A, XM_005272553.6:c.126C>A, XM_005272553.5:c.126C>A, XM_005272553.4:c.126C>A, XM_005272553.3:c.126C>A, XM_005272553.2:c.126C>A, XM_005272553.1:c.126C>A, XM_005272547.5:c.126C>A, XM_005272547.4:c.126C>A, XM_005272547.3:c.126C>A, XM_005272547.2:c.126C>A, XM_005272547.1:c.126C>A, XM_005272552.5:c.126C>A, XM_005272552.4:c.126C>A, XM_005272552.3:c.126C>A, XM_005272552.2:c.126C>A, XM_005272552.1:c.126C>A, XM_011543878.4:c.126C>A, XM_011543878.3:c.126C>A, XM_011543878.2:c.126C>A, XM_011543878.1:c.126C>A, XM_005272546.4:c.126C>A, XM_005272546.3:c.126C>A, XM_005272546.2:c.126C>A, XM_005272546.1:c.126C>A, XM_011543880.4:c.126C>A, XM_011543880.3:c.126C>A, XM_011543880.2:c.126C>A, XM_011543880.1:c.126C>A, XM_005272550.4:c.126C>A, XM_005272550.3:c.126C>A, XM_005272550.2:c.126C>A, XM_005272550.1:c.126C>A, XM_011543879.4:c.126C>A, XM_011543879.3:c.126C>A, XM_011543879.2:c.126C>A, XM_011543879.1:c.126C>A, XM_005272548.4:c.126C>A, XM_005272548.3:c.126C>A, XM_005272548.2:c.126C>A, XM_005272548.1:c.126C>A, XM_017022653.3:c.126C>A, XM_017022653.2:c.126C>A, XM_017022653.1:c.126C>A, XM_011543877.3:c.126C>A, XM_011543877.2:c.126C>A, XM_011543877.1:c.126C>A, XM_017022649.3:c.126C>A, XM_017022649.2:c.126C>A, XM_017022649.1:c.126C>A, XM_017022650.3:c.126C>A, XM_017022650.2:c.126C>A, XM_017022650.1:c.126C>A, XM_006720364.3:c.126C>A, XM_006720364.2:c.126C>A, XM_006720364.1:c.126C>A, XM_017022652.3:c.126C>A, XM_017022652.2:c.126C>A, XM_017022652.1:c.126C>A, XM_017022654.3:c.126C>A, XM_017022654.2:c.126C>A, XM_017022654.1:c.126C>A, XM_017022651.3:c.126C>A, XM_017022651.2:c.126C>A, XM_017022651.1:c.126C>A, XM_017022645.2:c.126C>A, XM_017022645.1:c.126C>A, XM_017022648.2:c.126C>A, XM_017022648.1:c.126C>A, XM_006720367.2:c.126C>A, XM_006720367.1:c.126C>A, XM_017022647.2:c.126C>A, XM_017022647.1:c.126C>A, XM_017022660.2:c.126C>A, XM_017022660.1:c.126C>A, XM_017022657.2:c.126C>A, XM_017022657.1:c.126C>A, XM_017022659.2:c.126C>A, XM_017022659.1:c.126C>A, XM_017022656.2:c.126C>A, XM_017022656.1:c.126C>A, XM_017022655.2:c.126C>A, XM_017022655.1:c.126C>A, XM_017022662.2:c.126C>A, XM_017022662.1:c.126C>A, XM_017022658.2:c.126C>A, XM_017022658.1:c.126C>A, XM_017022646.2:c.126C>A, XM_017022646.1:c.126C>A, XM_017022661.2:c.126C>A, XM_017022661.1:c.126C>A, XM_017022663.2:c.126C>A, XM_017022663.1:c.126C>A, XM_047433156.1:c.126C>A, XM_047433158.1:c.126C>A, XM_047433159.1:c.126C>A, XM_047433151.1:c.126C>A, XM_047433160.1:c.126C>A, XM_047433153.1:c.126C>A, XM_047433161.1:c.126C>A, XM_047433155.1:c.126C>A, XM_047433152.1:c.126C>A, XM_047433150.1:c.126C>A, XM_047433162.1:c.126C>A, XM_047433154.1:c.126C>A, XM_047433157.1:c.126C>A, XM_047433163.1:c.126C>A

                                  17.

                                  rs1460992829 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    15:22860691 (GRCh38)
                                    15:23012377 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:22860690:T:G
                                    Gene:
                                    NIPA2 (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_000015.10:g.22860691T>G, NC_000015.9:g.23012377A>C, NG_021303.1:g.27051T>G, NM_030922.7:c.350T>G, NM_030922.6:c.350T>G, NM_001008860.3:c.350T>G, NM_001008860.2:c.350T>G, NM_001008892.3:c.350T>G, NM_001008892.2:c.350T>G, NM_001008894.3:c.293T>G, NM_001008894.2:c.293T>G, NM_001184889.2:c.350T>G, NM_001184889.1:c.350T>G, NM_001184888.2:c.293T>G, NM_001184888.1:c.293T>G, NW_021160017.1:g.3754762T>G, XM_005272553.6:c.350T>G, XM_005272553.5:c.350T>G, XM_005272553.4:c.350T>G, XM_005272553.3:c.350T>G, XM_005272553.2:c.350T>G, XM_005272553.1:c.350T>G, XM_005272547.5:c.350T>G, XM_005272547.4:c.350T>G, XM_005272547.3:c.350T>G, XM_005272547.2:c.350T>G, XM_005272547.1:c.350T>G, XM_005272552.5:c.350T>G, XM_005272552.4:c.350T>G, XM_005272552.3:c.350T>G, XM_005272552.2:c.350T>G, XM_005272552.1:c.350T>G, XM_011543878.4:c.350T>G, XM_011543878.3:c.350T>G, XM_011543878.2:c.350T>G, XM_011543878.1:c.350T>G, XM_005272546.4:c.350T>G, XM_005272546.3:c.350T>G, XM_005272546.2:c.350T>G, XM_005272546.1:c.350T>G, XM_011543880.4:c.350T>G, XM_011543880.3:c.350T>G, XM_011543880.2:c.350T>G, XM_011543880.1:c.350T>G, XM_005272550.4:c.350T>G, XM_005272550.3:c.350T>G, XM_005272550.2:c.350T>G, XM_005272550.1:c.350T>G, XM_011543879.4:c.350T>G, XM_011543879.3:c.350T>G, XM_011543879.2:c.350T>G, XM_011543879.1:c.350T>G, XM_005272548.4:c.350T>G, XM_005272548.3:c.350T>G, XM_005272548.2:c.350T>G, XM_005272548.1:c.350T>G, XM_017022653.3:c.350T>G, XM_017022653.2:c.350T>G, XM_017022653.1:c.350T>G, XM_011543877.3:c.350T>G, XM_011543877.2:c.350T>G, XM_011543877.1:c.350T>G, XM_017022649.3:c.350T>G, XM_017022649.2:c.350T>G, XM_017022649.1:c.350T>G, XM_017022650.3:c.350T>G, XM_017022650.2:c.350T>G, XM_017022650.1:c.350T>G, XM_006720364.3:c.350T>G, XM_006720364.2:c.350T>G, XM_006720364.1:c.350T>G, XM_017022652.3:c.350T>G, XM_017022652.2:c.350T>G, XM_017022652.1:c.350T>G, XM_017022654.3:c.350T>G, XM_017022654.2:c.350T>G, XM_017022654.1:c.350T>G, XM_017022651.3:c.350T>G, XM_017022651.2:c.350T>G, XM_017022651.1:c.350T>G, XM_017022645.2:c.350T>G, XM_017022645.1:c.350T>G, XM_017022648.2:c.350T>G, XM_017022648.1:c.350T>G, XM_006720367.2:c.293T>G, XM_006720367.1:c.293T>G, XM_017022647.2:c.350T>G, XM_017022647.1:c.350T>G, XM_017022660.2:c.293T>G, XM_017022660.1:c.293T>G, XM_017022657.2:c.293T>G, XM_017022657.1:c.293T>G, XM_017022659.2:c.293T>G, XM_017022659.1:c.293T>G, XM_017022656.2:c.293T>G, XM_017022656.1:c.293T>G, XM_017022655.2:c.293T>G, XM_017022655.1:c.293T>G, XM_017022662.2:c.293T>G, XM_017022662.1:c.293T>G, XM_017022658.2:c.293T>G, XM_017022658.1:c.293T>G, XM_017022646.2:c.350T>G, XM_017022646.1:c.350T>G, XM_017022661.2:c.293T>G, XM_017022661.1:c.293T>G, XM_017022663.2:c.293T>G, XM_017022663.1:c.293T>G, XM_047433156.1:c.350T>G, XM_047433158.1:c.293T>G, XM_047433159.1:c.293T>G, XM_047433151.1:c.350T>G, XM_047433160.1:c.293T>G, XM_047433153.1:c.350T>G, XM_047433161.1:c.293T>G, XM_047433155.1:c.350T>G, XM_047433152.1:c.350T>G, XM_047433150.1:c.350T>G, XM_047433162.1:c.293T>G, XM_047433154.1:c.350T>G, XM_047433157.1:c.350T>G, XM_047433163.1:c.293T>G, NP_112184.4:p.Leu117Trp, NP_001008860.1:p.Leu117Trp, NP_001008892.1:p.Leu117Trp, NP_001008894.1:p.Leu98Trp, NP_001171818.1:p.Leu117Trp, NP_001171817.1:p.Leu98Trp, XP_005272610.1:p.Leu117Trp, XP_005272604.1:p.Leu117Trp, XP_005272609.1:p.Leu117Trp, XP_011542180.1:p.Leu117Trp, XP_005272603.1:p.Leu117Trp, XP_011542182.1:p.Leu117Trp, XP_005272607.1:p.Leu117Trp, XP_011542181.1:p.Leu117Trp, XP_005272605.1:p.Leu117Trp, XP_016878142.1:p.Leu117Trp, XP_011542179.1:p.Leu117Trp, XP_016878138.1:p.Leu117Trp, XP_016878139.1:p.Leu117Trp, XP_006720427.1:p.Leu117Trp, XP_016878141.1:p.Leu117Trp, XP_016878143.1:p.Leu117Trp, XP_016878140.1:p.Leu117Trp, XP_016878134.1:p.Leu117Trp, XP_016878137.1:p.Leu117Trp, XP_006720430.1:p.Leu98Trp, XP_016878136.1:p.Leu117Trp, XP_016878149.1:p.Leu98Trp, XP_016878146.1:p.Leu98Trp, XP_016878148.1:p.Leu98Trp, XP_016878145.1:p.Leu98Trp, XP_016878144.1:p.Leu98Trp, XP_016878151.1:p.Leu98Trp, XP_016878147.1:p.Leu98Trp, XP_016878135.1:p.Leu117Trp, XP_016878150.1:p.Leu98Trp, XP_016878152.1:p.Leu98Trp, XP_047289112.1:p.Leu117Trp, XP_047289114.1:p.Leu98Trp, XP_047289115.1:p.Leu98Trp, XP_047289107.1:p.Leu117Trp, XP_047289116.1:p.Leu98Trp, XP_047289109.1:p.Leu117Trp, XP_047289117.1:p.Leu98Trp, XP_047289111.1:p.Leu117Trp, XP_047289108.1:p.Leu117Trp, XP_047289106.1:p.Leu117Trp, XP_047289118.1:p.Leu98Trp, XP_047289110.1:p.Leu117Trp, XP_047289113.1:p.Leu117Trp, XP_047289119.1:p.Leu98Trp

                                    18.

                                    rs1459819257 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:22866785 (GRCh38)
                                      15:23006283 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:22866784:G:A
                                      Gene:
                                      CYFIP1 (Varview), NIPA2 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000015.10:g.22866785G>A, NC_000015.9:g.23006283C>T, NG_054889.1:g.119122C>T, NG_021303.1:g.33145G>A, NM_030922.7:c.1021G>A, NM_030922.6:c.1021G>A, NM_001008860.3:c.1021G>A, NM_001008860.2:c.1021G>A, NM_001008892.3:c.1021G>A, NM_001008892.2:c.1021G>A, NM_001008894.3:c.964G>A, NM_001008894.2:c.964G>A, NM_001184889.2:c.1021G>A, NM_001184889.1:c.1021G>A, NM_001184888.2:c.964G>A, NM_001184888.1:c.964G>A, NW_021160017.1:g.3760864G>A, XM_005272553.6:c.1021G>A, XM_005272553.5:c.1021G>A, XM_005272553.4:c.1021G>A, XM_005272553.3:c.1021G>A, XM_005272553.2:c.1021G>A, XM_005272553.1:c.1021G>A, XM_005272547.5:c.1021G>A, XM_005272547.4:c.1021G>A, XM_005272547.3:c.1021G>A, XM_005272547.2:c.1021G>A, XM_005272547.1:c.1021G>A, XM_005272552.5:c.1021G>A, XM_005272552.4:c.1021G>A, XM_005272552.3:c.1021G>A, XM_005272552.2:c.1021G>A, XM_005272552.1:c.1021G>A, XM_011543878.4:c.1021G>A, XM_011543878.3:c.1021G>A, XM_011543878.2:c.1021G>A, XM_011543878.1:c.1021G>A, XM_005272546.4:c.1021G>A, XM_005272546.3:c.1021G>A, XM_005272546.2:c.1021G>A, XM_005272546.1:c.1021G>A, XM_011543880.4:c.1021G>A, XM_011543880.3:c.1021G>A, XM_011543880.2:c.1021G>A, XM_011543880.1:c.1021G>A, XM_005272550.4:c.1021G>A, XM_005272550.3:c.1021G>A, XM_005272550.2:c.1021G>A, XM_005272550.1:c.1021G>A, XM_011543879.4:c.1021G>A, XM_011543879.3:c.1021G>A, XM_011543879.2:c.1021G>A, XM_011543879.1:c.1021G>A, XM_005272548.4:c.1021G>A, XM_005272548.3:c.1021G>A, XM_005272548.2:c.1021G>A, XM_005272548.1:c.1021G>A, XM_017022651.3:c.1021G>A, XM_017022651.2:c.1021G>A, XM_017022651.1:c.1021G>A, XM_017022653.3:c.1021G>A, XM_017022653.2:c.1021G>A, XM_017022653.1:c.1021G>A, XM_011543877.3:c.1021G>A, XM_011543877.2:c.1021G>A, XM_011543877.1:c.1021G>A, XM_017022649.3:c.1021G>A, XM_017022649.2:c.1021G>A, XM_017022649.1:c.1021G>A, XM_017022650.3:c.1021G>A, XM_017022650.2:c.1021G>A, XM_017022650.1:c.1021G>A, XM_006720364.3:c.1021G>A, XM_006720364.2:c.1021G>A, XM_006720364.1:c.1021G>A, XM_017022652.3:c.1021G>A, XM_017022652.2:c.1021G>A, XM_017022652.1:c.1021G>A, XM_017022654.3:c.1021G>A, XM_017022654.2:c.1021G>A, XM_017022654.1:c.1021G>A, XM_006720367.2:c.964G>A, XM_006720367.1:c.964G>A, XM_017022646.2:c.1021G>A, XM_017022646.1:c.1021G>A, XM_017022647.2:c.1021G>A, XM_017022647.1:c.1021G>A, XM_017022660.2:c.964G>A, XM_017022660.1:c.964G>A, XM_017022657.2:c.964G>A, XM_017022657.1:c.964G>A, XM_017022659.2:c.964G>A, XM_017022659.1:c.964G>A, XM_017022656.2:c.964G>A, XM_017022656.1:c.964G>A, XM_017022655.2:c.964G>A, XM_017022655.1:c.964G>A, XM_017022662.2:c.964G>A, XM_017022662.1:c.964G>A, XM_017022661.2:c.964G>A, XM_017022661.1:c.964G>A, XM_017022663.2:c.964G>A, XM_017022663.1:c.964G>A, XM_017022658.2:c.964G>A, XM_017022658.1:c.964G>A, XM_017022645.2:c.1021G>A, XM_017022645.1:c.1021G>A, XM_047433162.1:c.964G>A, XM_017022648.2:c.1021G>A, XM_017022648.1:c.1021G>A, XM_047433152.1:c.1021G>A, XM_047433156.1:c.1021G>A, XM_047433150.1:c.1021G>A, XM_047433151.1:c.1021G>A, XM_047433160.1:c.964G>A, XM_047433161.1:c.964G>A, XM_047433155.1:c.1021G>A, XM_047433163.1:c.964G>A, XM_047433157.1:c.1021G>A, XM_047433154.1:c.1021G>A, XM_047433159.1:c.964G>A, XM_047433153.1:c.1021G>A, XM_047433158.1:c.964G>A, NP_112184.4:p.Gly341Arg, NP_001008860.1:p.Gly341Arg, NP_001008892.1:p.Gly341Arg, NP_001008894.1:p.Gly322Arg, NP_001171818.1:p.Gly341Arg, NP_001171817.1:p.Gly322Arg, XP_005272610.1:p.Gly341Arg, XP_005272604.1:p.Gly341Arg, XP_005272609.1:p.Gly341Arg, XP_011542180.1:p.Gly341Arg, XP_005272603.1:p.Gly341Arg, XP_011542182.1:p.Gly341Arg, XP_005272607.1:p.Gly341Arg, XP_011542181.1:p.Gly341Arg, XP_005272605.1:p.Gly341Arg, XP_016878140.1:p.Gly341Arg, XP_016878142.1:p.Gly341Arg, XP_011542179.1:p.Gly341Arg, XP_016878138.1:p.Gly341Arg, XP_016878139.1:p.Gly341Arg, XP_006720427.1:p.Gly341Arg, XP_016878141.1:p.Gly341Arg, XP_016878143.1:p.Gly341Arg, XP_006720430.1:p.Gly322Arg, XP_016878135.1:p.Gly341Arg, XP_016878136.1:p.Gly341Arg, XP_016878149.1:p.Gly322Arg, XP_016878146.1:p.Gly322Arg, XP_016878148.1:p.Gly322Arg, XP_016878145.1:p.Gly322Arg, XP_016878144.1:p.Gly322Arg, XP_016878151.1:p.Gly322Arg, XP_016878150.1:p.Gly322Arg, XP_016878152.1:p.Gly322Arg, XP_016878147.1:p.Gly322Arg, XP_016878134.1:p.Gly341Arg, XP_047289118.1:p.Gly322Arg, XP_016878137.1:p.Gly341Arg, XP_047289108.1:p.Gly341Arg, XP_047289112.1:p.Gly341Arg, XP_047289106.1:p.Gly341Arg, XP_047289107.1:p.Gly341Arg, XP_047289116.1:p.Gly322Arg, XP_047289117.1:p.Gly322Arg, XP_047289111.1:p.Gly341Arg, XP_047289119.1:p.Gly322Arg, XP_047289113.1:p.Gly341Arg, XP_047289110.1:p.Gly341Arg, XP_047289115.1:p.Gly322Arg, XP_047289109.1:p.Gly341Arg, XP_047289114.1:p.Gly322Arg

                                      19.

                                      rs1456664747 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:22866281 (GRCh38)
                                        15:23006787 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:22866280:C:T
                                        Gene:
                                        NIPA2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.22866281C>T, NC_000015.9:g.23006787G>A, NG_054889.1:g.119626G>A, NG_021303.1:g.32641C>T, NM_030922.7:c.517C>T, NM_030922.6:c.517C>T, NM_001008860.3:c.517C>T, NM_001008860.2:c.517C>T, NM_001008892.3:c.517C>T, NM_001008892.2:c.517C>T, NM_001008894.3:c.460C>T, NM_001008894.2:c.460C>T, NM_001184889.2:c.517C>T, NM_001184889.1:c.517C>T, NM_001184888.2:c.460C>T, NM_001184888.1:c.460C>T, NW_021160017.1:g.3760360C>T, XM_005272553.6:c.517C>T, XM_005272553.5:c.517C>T, XM_005272553.4:c.517C>T, XM_005272553.3:c.517C>T, XM_005272553.2:c.517C>T, XM_005272553.1:c.517C>T, XM_005272547.5:c.517C>T, XM_005272547.4:c.517C>T, XM_005272547.3:c.517C>T, XM_005272547.2:c.517C>T, XM_005272547.1:c.517C>T, XM_005272552.5:c.517C>T, XM_005272552.4:c.517C>T, XM_005272552.3:c.517C>T, XM_005272552.2:c.517C>T, XM_005272552.1:c.517C>T, XM_011543878.4:c.517C>T, XM_011543878.3:c.517C>T, XM_011543878.2:c.517C>T, XM_011543878.1:c.517C>T, XM_005272546.4:c.517C>T, XM_005272546.3:c.517C>T, XM_005272546.2:c.517C>T, XM_005272546.1:c.517C>T, XM_011543880.4:c.517C>T, XM_011543880.3:c.517C>T, XM_011543880.2:c.517C>T, XM_011543880.1:c.517C>T, XM_005272550.4:c.517C>T, XM_005272550.3:c.517C>T, XM_005272550.2:c.517C>T, XM_005272550.1:c.517C>T, XM_011543879.4:c.517C>T, XM_011543879.3:c.517C>T, XM_011543879.2:c.517C>T, XM_011543879.1:c.517C>T, XM_005272548.4:c.517C>T, XM_005272548.3:c.517C>T, XM_005272548.2:c.517C>T, XM_005272548.1:c.517C>T, XM_017022651.3:c.517C>T, XM_017022651.2:c.517C>T, XM_017022651.1:c.517C>T, XM_017022653.3:c.517C>T, XM_017022653.2:c.517C>T, XM_017022653.1:c.517C>T, XM_011543877.3:c.517C>T, XM_011543877.2:c.517C>T, XM_011543877.1:c.517C>T, XM_017022649.3:c.517C>T, XM_017022649.2:c.517C>T, XM_017022649.1:c.517C>T, XM_017022650.3:c.517C>T, XM_017022650.2:c.517C>T, XM_017022650.1:c.517C>T, XM_006720364.3:c.517C>T, XM_006720364.2:c.517C>T, XM_006720364.1:c.517C>T, XM_017022652.3:c.517C>T, XM_017022652.2:c.517C>T, XM_017022652.1:c.517C>T, XM_017022654.3:c.517C>T, XM_017022654.2:c.517C>T, XM_017022654.1:c.517C>T, XM_006720367.2:c.460C>T, XM_006720367.1:c.460C>T, XM_017022646.2:c.517C>T, XM_017022646.1:c.517C>T, XM_017022647.2:c.517C>T, XM_017022647.1:c.517C>T, XM_017022660.2:c.460C>T, XM_017022660.1:c.460C>T, XM_017022657.2:c.460C>T, XM_017022657.1:c.460C>T, XM_017022659.2:c.460C>T, XM_017022659.1:c.460C>T, XM_017022656.2:c.460C>T, XM_017022656.1:c.460C>T, XM_017022655.2:c.460C>T, XM_017022655.1:c.460C>T, XM_017022662.2:c.460C>T, XM_017022662.1:c.460C>T, XM_017022661.2:c.460C>T, XM_017022661.1:c.460C>T, XM_017022663.2:c.460C>T, XM_017022663.1:c.460C>T, XM_017022658.2:c.460C>T, XM_017022658.1:c.460C>T, XM_017022645.2:c.517C>T, XM_017022645.1:c.517C>T, XM_047433162.1:c.460C>T, XM_017022648.2:c.517C>T, XM_017022648.1:c.517C>T, XM_047433152.1:c.517C>T, XM_047433156.1:c.517C>T, XM_047433150.1:c.517C>T, XM_047433151.1:c.517C>T, XM_047433160.1:c.460C>T, XM_047433161.1:c.460C>T, XM_047433155.1:c.517C>T, XM_047433163.1:c.460C>T, XM_047433157.1:c.517C>T, XM_047433154.1:c.517C>T, XM_047433159.1:c.460C>T, XM_047433153.1:c.517C>T, XM_047433158.1:c.460C>T, NP_112184.4:p.His173Tyr, NP_001008860.1:p.His173Tyr, NP_001008892.1:p.His173Tyr, NP_001008894.1:p.His154Tyr, NP_001171818.1:p.His173Tyr, NP_001171817.1:p.His154Tyr, XP_005272610.1:p.His173Tyr, XP_005272604.1:p.His173Tyr, XP_005272609.1:p.His173Tyr, XP_011542180.1:p.His173Tyr, XP_005272603.1:p.His173Tyr, XP_011542182.1:p.His173Tyr, XP_005272607.1:p.His173Tyr, XP_011542181.1:p.His173Tyr, XP_005272605.1:p.His173Tyr, XP_016878140.1:p.His173Tyr, XP_016878142.1:p.His173Tyr, XP_011542179.1:p.His173Tyr, XP_016878138.1:p.His173Tyr, XP_016878139.1:p.His173Tyr, XP_006720427.1:p.His173Tyr, XP_016878141.1:p.His173Tyr, XP_016878143.1:p.His173Tyr, XP_006720430.1:p.His154Tyr, XP_016878135.1:p.His173Tyr, XP_016878136.1:p.His173Tyr, XP_016878149.1:p.His154Tyr, XP_016878146.1:p.His154Tyr, XP_016878148.1:p.His154Tyr, XP_016878145.1:p.His154Tyr, XP_016878144.1:p.His154Tyr, XP_016878151.1:p.His154Tyr, XP_016878150.1:p.His154Tyr, XP_016878152.1:p.His154Tyr, XP_016878147.1:p.His154Tyr, XP_016878134.1:p.His173Tyr, XP_047289118.1:p.His154Tyr, XP_016878137.1:p.His173Tyr, XP_047289108.1:p.His173Tyr, XP_047289112.1:p.His173Tyr, XP_047289106.1:p.His173Tyr, XP_047289107.1:p.His173Tyr, XP_047289116.1:p.His154Tyr, XP_047289117.1:p.His154Tyr, XP_047289111.1:p.His173Tyr, XP_047289119.1:p.His154Tyr, XP_047289113.1:p.His173Tyr, XP_047289110.1:p.His173Tyr, XP_047289115.1:p.His154Tyr, XP_047289109.1:p.His173Tyr, XP_047289114.1:p.His154Tyr

                                        20.

                                        rs1455449577 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          15:22866294 (GRCh38)
                                          15:23006774 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:22866293:A:C
                                          Gene:
                                          NIPA2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.22866294A>C, NC_000015.9:g.23006774T>G, NG_054889.1:g.119613T>G, NG_021303.1:g.32654A>C, NM_030922.7:c.530A>C, NM_030922.6:c.530A>C, NM_001008860.3:c.530A>C, NM_001008860.2:c.530A>C, NM_001008892.3:c.530A>C, NM_001008892.2:c.530A>C, NM_001008894.3:c.473A>C, NM_001008894.2:c.473A>C, NM_001184889.2:c.530A>C, NM_001184889.1:c.530A>C, NM_001184888.2:c.473A>C, NM_001184888.1:c.473A>C, NW_021160017.1:g.3760373A>C, XM_005272553.6:c.530A>C, XM_005272553.5:c.530A>C, XM_005272553.4:c.530A>C, XM_005272553.3:c.530A>C, XM_005272553.2:c.530A>C, XM_005272553.1:c.530A>C, XM_005272547.5:c.530A>C, XM_005272547.4:c.530A>C, XM_005272547.3:c.530A>C, XM_005272547.2:c.530A>C, XM_005272547.1:c.530A>C, XM_005272552.5:c.530A>C, XM_005272552.4:c.530A>C, XM_005272552.3:c.530A>C, XM_005272552.2:c.530A>C, XM_005272552.1:c.530A>C, XM_011543878.4:c.530A>C, XM_011543878.3:c.530A>C, XM_011543878.2:c.530A>C, XM_011543878.1:c.530A>C, XM_005272546.4:c.530A>C, XM_005272546.3:c.530A>C, XM_005272546.2:c.530A>C, XM_005272546.1:c.530A>C, XM_011543880.4:c.530A>C, XM_011543880.3:c.530A>C, XM_011543880.2:c.530A>C, XM_011543880.1:c.530A>C, XM_005272550.4:c.530A>C, XM_005272550.3:c.530A>C, XM_005272550.2:c.530A>C, XM_005272550.1:c.530A>C, XM_011543879.4:c.530A>C, XM_011543879.3:c.530A>C, XM_011543879.2:c.530A>C, XM_011543879.1:c.530A>C, XM_005272548.4:c.530A>C, XM_005272548.3:c.530A>C, XM_005272548.2:c.530A>C, XM_005272548.1:c.530A>C, XM_017022651.3:c.530A>C, XM_017022651.2:c.530A>C, XM_017022651.1:c.530A>C, XM_017022653.3:c.530A>C, XM_017022653.2:c.530A>C, XM_017022653.1:c.530A>C, XM_011543877.3:c.530A>C, XM_011543877.2:c.530A>C, XM_011543877.1:c.530A>C, XM_017022649.3:c.530A>C, XM_017022649.2:c.530A>C, XM_017022649.1:c.530A>C, XM_017022650.3:c.530A>C, XM_017022650.2:c.530A>C, XM_017022650.1:c.530A>C, XM_006720364.3:c.530A>C, XM_006720364.2:c.530A>C, XM_006720364.1:c.530A>C, XM_017022652.3:c.530A>C, XM_017022652.2:c.530A>C, XM_017022652.1:c.530A>C, XM_017022654.3:c.530A>C, XM_017022654.2:c.530A>C, XM_017022654.1:c.530A>C, XM_006720367.2:c.473A>C, XM_006720367.1:c.473A>C, XM_017022646.2:c.530A>C, XM_017022646.1:c.530A>C, XM_017022647.2:c.530A>C, XM_017022647.1:c.530A>C, XM_017022660.2:c.473A>C, XM_017022660.1:c.473A>C, XM_017022657.2:c.473A>C, XM_017022657.1:c.473A>C, XM_017022659.2:c.473A>C, XM_017022659.1:c.473A>C, XM_017022656.2:c.473A>C, XM_017022656.1:c.473A>C, XM_017022655.2:c.473A>C, XM_017022655.1:c.473A>C, XM_017022662.2:c.473A>C, XM_017022662.1:c.473A>C, XM_017022661.2:c.473A>C, XM_017022661.1:c.473A>C, XM_017022663.2:c.473A>C, XM_017022663.1:c.473A>C, XM_017022658.2:c.473A>C, XM_017022658.1:c.473A>C, XM_017022645.2:c.530A>C, XM_017022645.1:c.530A>C, XM_047433162.1:c.473A>C, XM_017022648.2:c.530A>C, XM_017022648.1:c.530A>C, XM_047433152.1:c.530A>C, XM_047433156.1:c.530A>C, XM_047433150.1:c.530A>C, XM_047433151.1:c.530A>C, XM_047433160.1:c.473A>C, XM_047433161.1:c.473A>C, XM_047433155.1:c.530A>C, XM_047433163.1:c.473A>C, XM_047433157.1:c.530A>C, XM_047433154.1:c.530A>C, XM_047433159.1:c.473A>C, XM_047433153.1:c.530A>C, XM_047433158.1:c.473A>C, NP_112184.4:p.Asn177Thr, NP_001008860.1:p.Asn177Thr, NP_001008892.1:p.Asn177Thr, NP_001008894.1:p.Asn158Thr, NP_001171818.1:p.Asn177Thr, NP_001171817.1:p.Asn158Thr, XP_005272610.1:p.Asn177Thr, XP_005272604.1:p.Asn177Thr, XP_005272609.1:p.Asn177Thr, XP_011542180.1:p.Asn177Thr, XP_005272603.1:p.Asn177Thr, XP_011542182.1:p.Asn177Thr, XP_005272607.1:p.Asn177Thr, XP_011542181.1:p.Asn177Thr, XP_005272605.1:p.Asn177Thr, XP_016878140.1:p.Asn177Thr, XP_016878142.1:p.Asn177Thr, XP_011542179.1:p.Asn177Thr, XP_016878138.1:p.Asn177Thr, XP_016878139.1:p.Asn177Thr, XP_006720427.1:p.Asn177Thr, XP_016878141.1:p.Asn177Thr, XP_016878143.1:p.Asn177Thr, XP_006720430.1:p.Asn158Thr, XP_016878135.1:p.Asn177Thr, XP_016878136.1:p.Asn177Thr, XP_016878149.1:p.Asn158Thr, XP_016878146.1:p.Asn158Thr, XP_016878148.1:p.Asn158Thr, XP_016878145.1:p.Asn158Thr, XP_016878144.1:p.Asn158Thr, XP_016878151.1:p.Asn158Thr, XP_016878150.1:p.Asn158Thr, XP_016878152.1:p.Asn158Thr, XP_016878147.1:p.Asn158Thr, XP_016878134.1:p.Asn177Thr, XP_047289118.1:p.Asn158Thr, XP_016878137.1:p.Asn177Thr, XP_047289108.1:p.Asn177Thr, XP_047289112.1:p.Asn177Thr, XP_047289106.1:p.Asn177Thr, XP_047289107.1:p.Asn177Thr, XP_047289116.1:p.Asn158Thr, XP_047289117.1:p.Asn158Thr, XP_047289111.1:p.Asn177Thr, XP_047289119.1:p.Asn158Thr, XP_047289113.1:p.Asn177Thr, XP_047289110.1:p.Asn177Thr, XP_047289115.1:p.Asn158Thr, XP_047289109.1:p.Asn177Thr, XP_047289114.1:p.Asn158Thr

                                          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...