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 323

1.

rs1490238365 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:3824120 (GRCh38)
    11:3845350 (GRCh37)
    Canonical SPDI:
    NC_000011.10:3824119:T:C
    Gene:
    PGAP2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.3824120T>C, NC_000011.9:g.3845350T>C, NG_051812.1:g.31397T>C, NR_027017.4:n.723T>C, NR_027017.3:n.802T>C, NR_027017.2:n.662T>C, NM_014489.4:c.586T>C, NM_014489.3:c.586T>C, NR_027016.3:n.330T>C, NR_027016.2:n.354T>C, NR_144428.2:n.590T>C, NR_144428.1:n.614T>C, NM_001346401.2:c.413T>C, NM_001346401.1:c.413T>C, NM_001346399.2:c.413T>C, NM_001346399.1:c.413T>C, NM_001346397.2:c.556T>C, NM_001346397.1:c.556T>C, NR_144429.2:n.330T>C, NR_144429.1:n.354T>C, NM_001346402.2:c.523T>C, NM_001346402.1:c.523T>C, NR_104271.2:n.605T>C, NR_104271.1:n.684T>C, NM_001145438.2:c.574T>C, NR_027018.2:n.551T>C, NM_001346398.2:c.403T>C, NM_001346398.1:c.403T>C, NM_001256240.2:c.403T>C, NM_001256240.1:c.403T>C, NM_001346400.2:c.403T>C, NM_001346400.1:c.403T>C, NM_001256239.2:c.403T>C, NM_001256239.1:c.403T>C, NR_045929.2:n.458T>C, NR_045929.1:n.482T>C, NR_045927.2:n.345T>C, NR_045927.1:n.424T>C, NR_144427.2:n.345T>C, NR_144427.1:n.424T>C, NR_045923.2:n.345T>C, NR_045923.1:n.424T>C, NR_104270.2:n.345T>C, NR_104270.1:n.424T>C, NR_104272.2:n.330T>C, NR_104272.1:n.354T>C, NM_001256236.1:c.757T>C, NM_001346403.1:c.586T>C, NM_001256237.1:c.574T>C, NM_001283038.1:c.574T>C, NM_001346404.1:c.403T>C, NM_001256238.1:c.403T>C, NM_001283039.1:c.527T>C, NM_001256235.1:c.457T>C, NM_001346405.1:c.403T>C, XM_006718181.4:c.589T>C, XM_006718181.3:c.589T>C, XM_006718181.2:c.589T>C, XM_006718181.1:c.589T>C, XM_011519998.3:c.688T>C, XM_011519998.2:c.688T>C, XM_011519998.1:c.688T>C, XM_011520004.3:c.739T>C, XM_011520004.2:c.586T>C, XM_011520004.1:c.586T>C, XM_011519990.3:c.586T>C, XM_011519990.2:c.814T>C, XM_011519990.1:c.586T>C, XM_011519991.3:c.586T>C, XM_011519991.2:c.814T>C, XM_011519991.1:c.586T>C, XM_006718185.3:c.484T>C, XM_006718185.2:c.484T>C, XM_006718185.1:c.484T>C, XM_011519992.2:c.754T>C, XM_011519992.1:c.754T>C, XM_011519996.2:c.706T>C, XM_011519996.1:c.706T>C, XM_011519999.2:c.688T>C, XM_011519999.1:c.688T>C, XM_024448444.2:c.457T>C, XM_024448444.1:c.457T>C, XM_024448443.2:c.457T>C, XM_024448443.1:c.457T>C, XM_011520002.2:c.403T>C, XM_011520002.1:c.403T>C, XM_047426778.1:c.754T>C, XM_047426777.1:c.757T>C, XM_047426780.1:c.667T>C, NR_027015.1:n.699T>C, XM_047426781.1:c.586T>C, XM_047426786.1:c.406T>C, XM_047426779.1:c.457T>C, XM_047426783.1:c.457T>C, XM_047426788.1:c.466T>C, XM_047426787.1:c.406T>C, NR_027014.1:n.540T>C, XM_047426782.1:c.484T>C, NM_001145439.1:c.263T>C, XM_047426776.1:c.586T>C, XM_047426784.1:c.566T>C, XM_047426785.1:c.566T>C, XM_047426789.1:c.413T>C, XM_047426792.1:c.413T>C, XM_047426793.1:c.509T>C, XM_047426791.1:c.413T>C, XM_047426790.1:c.413T>C, NP_055304.1:p.Ser196Pro, NP_001333330.1:p.Leu138Pro, NP_001333328.1:p.Leu138Pro, NP_001333326.1:p.Ser186Pro, NP_001333331.1:p.Ser175Pro, NP_001138910.1:p.Ser192Pro, NP_001333327.1:p.Ser135Pro, NP_001243169.1:p.Ser135Pro, NP_001333329.1:p.Ser135Pro, NP_001243168.1:p.Ser135Pro, NP_001243165.1:p.Ser253Pro, NP_001333332.1:p.Ser196Pro, NP_001243166.1:p.Ser192Pro, NP_001269967.1:p.Ser192Pro, NP_001333333.1:p.Ser135Pro, NP_001243167.1:p.Ser135Pro, NP_001269968.1:p.Leu176Pro, NP_001243164.1:p.Ser153Pro, NP_001333334.1:p.Ser135Pro, XP_006718244.1:p.Ser197Pro, XP_011518300.1:p.Ser230Pro, XP_011518306.2:p.Ser247Pro, XP_011518292.3:p.Ser196Pro, XP_011518293.3:p.Ser196Pro, XP_006718248.1:p.Ser162Pro, XP_011518294.1:p.Ser252Pro, XP_011518298.1:p.Ser236Pro, XP_011518301.1:p.Ser230Pro, XP_024304212.1:p.Ser153Pro, XP_024304211.1:p.Ser153Pro, XP_011518304.1:p.Ser135Pro, XP_047282734.1:p.Ser252Pro, XP_047282733.1:p.Ser253Pro, XP_047282736.1:p.Ser223Pro, XP_047282737.1:p.Ser196Pro, XP_047282742.1:p.Ser136Pro, XP_047282735.1:p.Ser153Pro, XP_047282739.1:p.Ser153Pro, XP_047282744.1:p.Ser156Pro, XP_047282743.1:p.Ser136Pro, XP_047282738.1:p.Ser162Pro, XP_047282732.1:p.Ser196Pro, XP_047282740.1:p.Leu189Pro, XP_047282741.1:p.Leu189Pro, XP_047282745.1:p.Leu138Pro, XP_047282748.1:p.Leu138Pro, XP_047282749.1:p.Leu170Pro, XP_047282747.1:p.Leu138Pro, XP_047282746.1:p.Leu138Pro

    2.

    rs1488729576 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:3825343 (GRCh38)
      11:3846573 (GRCh37)
      Canonical SPDI:
      NC_000011.10:3825342:C:T
      Gene:
      PGAP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant
      HGVS:
      NC_000011.10:g.3825343C>T, NC_000011.9:g.3846573C>T, NG_051812.1:g.32620C>T, NR_027017.4:n.1194C>T, NR_027017.3:n.1273C>T, NR_027017.2:n.1133C>T, NM_014489.4:c.833C>T, NM_014489.3:c.833C>T, NR_027016.3:n.577C>T, NR_027016.2:n.601C>T, NR_144428.2:n.1109C>T, NR_144428.1:n.1133C>T, NM_001346401.2:c.*24C>T, NM_001346401.1:c.*24C>T, NM_001346399.2:c.*24C>T, NM_001346399.1:c.*24C>T, NM_001346397.2:c.803C>T, NM_001346397.1:c.803C>T, NR_144429.2:n.861C>T, NR_144429.1:n.885C>T, NM_001346402.2:c.770C>T, NM_001346402.1:c.770C>T, NR_104271.2:n.840C>T, NR_104271.1:n.919C>T, NM_001145438.2:c.809C>T, NR_027018.2:n.798C>T, NM_001346398.2:c.650C>T, NM_001346398.1:c.650C>T, NM_001256240.2:c.650C>T, NM_001256240.1:c.650C>T, NM_001346400.2:c.638C>T, NM_001346400.1:c.638C>T, NM_001256239.2:c.638C>T, NM_001256239.1:c.638C>T, NR_045929.2:n.693C>T, NR_045929.1:n.717C>T, NR_045927.2:n.671C>T, NR_045927.1:n.750C>T, NR_144427.2:n.665C>T, NR_144427.1:n.744C>T, NR_045923.2:n.592C>T, NR_045923.1:n.671C>T, NR_104270.2:n.580C>T, NR_104270.1:n.659C>T, NR_104272.2:n.565C>T, NR_104272.1:n.589C>T, NR_045926.2:n.514C>T, NR_045926.1:n.593C>T, NR_045925.2:n.502C>T, NR_045925.1:n.581C>T, NR_144430.2:n.324C>T, NR_144430.1:n.348C>T, NM_001256236.1:c.1004C>T, NM_001346403.1:c.*24C>T, NM_001256237.1:c.*24C>T, NM_001283038.1:c.821C>T, NM_001346404.1:c.*24C>T, NM_001256238.1:c.*24C>T, NM_001283039.1:c.*24C>T, NM_001256235.1:c.704C>T, NM_001346405.1:c.650C>T, NM_001283040.1:c.*24C>T, XM_006718181.4:c.836C>T, XM_006718181.3:c.836C>T, XM_006718181.2:c.836C>T, XM_006718181.1:c.836C>T, XM_011519998.3:c.935C>T, XM_011519998.2:c.935C>T, XM_011519998.1:c.935C>T, XM_011520004.3:c.986C>T, XM_011520004.2:c.833C>T, XM_011520004.1:c.833C>T, XM_011519990.3:c.833C>T, XM_011519990.2:c.1061C>T, XM_011519990.1:c.833C>T, XM_011519991.3:c.821C>T, XM_011519991.2:c.1049C>T, XM_011519991.1:c.821C>T, XM_006718185.3:c.731C>T, XM_006718185.2:c.731C>T, XM_006718185.1:c.731C>T, XM_011519992.2:c.1001C>T, XM_011519992.1:c.1001C>T, XM_011519996.2:c.953C>T, XM_011519996.1:c.953C>T, XM_011519999.2:c.935C>T, XM_011519999.1:c.935C>T, XM_024448444.2:c.692C>T, XM_024448444.1:c.692C>T, XM_024448443.2:c.692C>T, XM_024448443.1:c.692C>T, XM_011520002.2:c.638C>T, XM_011520002.1:c.638C>T, XM_047426778.1:c.989C>T, XM_047426777.1:c.992C>T, XM_047426780.1:c.914C>T, NR_027015.1:n.946C>T, XM_047426781.1:c.821C>T, XM_047426786.1:c.653C>T, XM_047426779.1:c.704C>T, XM_047426783.1:c.704C>T, XM_047426788.1:c.713C>T, XM_047426787.1:c.653C>T, NR_027014.1:n.787C>T, XM_047426782.1:c.719C>T, NM_001145439.1:c.*24C>T, NP_055304.1:p.Ala278Val, NP_001333326.1:p.Ala268Val, NP_001333331.1:p.Ala257Val, NP_001138910.1:p.Ala270Val, NP_001333327.1:p.Ala217Val, NP_001243169.1:p.Ala217Val, NP_001333329.1:p.Ala213Val, NP_001243168.1:p.Ala213Val, NP_001243165.1:p.Ala335Val, NP_001269967.1:p.Ala274Val, NP_001243164.1:p.Ala235Val, NP_001333334.1:p.Ala217Val, XP_006718244.1:p.Ala279Val, XP_011518300.1:p.Ala312Val, XP_011518306.2:p.Ala329Val, XP_011518292.3:p.Ala278Val, XP_011518293.3:p.Ala274Val, XP_006718248.1:p.Ala244Val, XP_011518294.1:p.Ala334Val, XP_011518298.1:p.Ala318Val, XP_011518301.1:p.Ala312Val, XP_024304212.1:p.Ala231Val, XP_024304211.1:p.Ala231Val, XP_011518304.1:p.Ala213Val, XP_047282734.1:p.Ala330Val, XP_047282733.1:p.Ala331Val, XP_047282736.1:p.Ala305Val, XP_047282737.1:p.Ala274Val, XP_047282742.1:p.Ala218Val, XP_047282735.1:p.Ala235Val, XP_047282739.1:p.Ala235Val, XP_047282744.1:p.Ala238Val, XP_047282743.1:p.Ala218Val, XP_047282738.1:p.Ala240Val

      3.

      rs1487813766 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:3808296 (GRCh38)
        11:3829526 (GRCh37)
        Canonical SPDI:
        NC_000011.10:3808295:A:G
        Gene:
        PGAP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,splice_acceptor_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000011.10:g.3808296A>G, NC_000011.9:g.3829526A>G, NG_051812.1:g.15573A>G, NR_027017.4:n.206A>G, NR_027017.3:n.285A>G, NR_027017.2:n.145A>G, NM_001346401.2:c.-233A>G, NM_001346401.1:c.-233A>G, NM_001346399.2:c.-233A>G, NM_001346399.1:c.-233A>G, NM_001346397.2:c.124A>G, NM_001346397.1:c.124A>G, NM_001346402.2:c.6A>G, NM_001346402.1:c.6A>G, NR_104271.2:n.88A>G, NR_104271.1:n.167A>G, NM_001145438.2:c.142A>G, NR_027018.2:n.81A>G, NR_045927.2:n.88A>G, NR_045927.1:n.167A>G, NR_144427.2:n.88A>G, NR_144427.1:n.167A>G, NR_045923.2:n.88A>G, NR_045923.1:n.167A>G, NR_104270.2:n.88A>G, NR_104270.1:n.167A>G, NR_045926.2:n.88A>G, NR_045926.1:n.167A>G, NR_045925.2:n.88A>G, NR_045925.1:n.167A>G, NM_001256236.1:c.142A>G, NM_001346403.1:c.-30A>G, NM_001256237.1:c.142A>G, NM_001283038.1:c.142A>G, NM_001346404.1:c.-30A>G, NM_001256238.1:c.-30A>G, NM_001283039.1:c.142A>G, NM_001256235.1:c.-61A>G, NM_001346405.1:c.-30A>G, NM_001283040.1:c.142A>G, XM_011519998.3:c.-61A>G, XM_011519998.2:c.-61A>G, XM_011519998.1:c.-61A>G, XM_011520004.3:c.124A>G, XM_011520004.2:c.-30A>G, XM_011520004.1:c.-30A>G, XM_011519990.3:c.-30A>G, XM_011519990.2:c.199A>G, XM_011519990.1:c.-30A>G, XM_011519991.3:c.-30A>G, XM_011519991.2:c.199A>G, XM_011519991.1:c.-30A>G, XM_006718185.3:c.142A>G, XM_006718185.2:c.142A>G, XM_006718185.1:c.142A>G, XM_011519992.2:c.6A>G, XM_011519992.1:c.6A>G, XM_011519996.2:c.6A>G, XM_011519996.1:c.6A>G, XM_011519999.2:c.-61A>G, XM_011519999.1:c.-61A>G, XM_024448444.2:c.-61A>G, XM_024448444.1:c.-61A>G, XM_011520002.2:c.-30A>G, XM_011520002.1:c.-30A>G, XM_047426778.1:c.6A>G, XM_047426777.1:c.142A>G, XM_047426780.1:c.142A>G, NR_027015.1:n.84A>G, XM_047426786.1:c.-35A>G, XM_047426779.1:c.-69A>G, XM_047426788.1:c.124A>G, XM_047426787.1:c.-35A>G, NR_027014.1:n.23A>G, XM_047426782.1:c.142A>G, NM_001145439.1:c.6A>G, XM_047426776.1:c.-30A>G, XM_047426784.1:c.6A>G, XM_047426785.1:c.6A>G, XM_047426789.1:c.-58A>G, XM_047426792.1:c.-58A>G, XM_047426793.1:c.124A>G, NP_001333326.1:p.Arg42Gly, NP_001138910.1:p.Arg48Gly, NP_001243165.1:p.Arg48Gly, NP_001243166.1:p.Arg48Gly, NP_001269967.1:p.Arg48Gly, NP_001269968.1:p.Arg48Gly, NP_001269969.1:p.Arg48Gly, XP_011518306.2:p.Arg42Gly, XP_006718248.1:p.Arg48Gly, XP_047282733.1:p.Arg48Gly, XP_047282736.1:p.Arg48Gly, XP_047282744.1:p.Arg42Gly, XP_047282738.1:p.Arg48Gly, XP_047282749.1:p.Arg42Gly

        4.

        rs1485248986 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          11:3825028 (GRCh38)
          11:3846258 (GRCh37)
          Canonical SPDI:
          NC_000011.10:3825027:G:A,NC_000011.10:3825027:G:C
          Gene:
          PGAP2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.3825028G>A, NC_000011.10:g.3825028G>C, NC_000011.9:g.3846258G>A, NC_000011.9:g.3846258G>C, NG_051812.1:g.32305G>A, NG_051812.1:g.32305G>C, NR_027017.4:n.1078G>A, NR_027017.4:n.1078G>C, NR_027017.3:n.1157G>A, NR_027017.3:n.1157G>C, NR_027017.2:n.1017G>A, NR_027017.2:n.1017G>C, NM_014489.4:c.717G>A, NM_014489.4:c.717G>C, NM_014489.3:c.717G>A, NM_014489.3:c.717G>C, NR_027016.3:n.461G>A, NR_027016.3:n.461G>C, NR_027016.2:n.485G>A, NR_027016.2:n.485G>C, NR_144428.2:n.993G>A, NR_144428.2:n.993G>C, NR_144428.1:n.1017G>A, NR_144428.1:n.1017G>C, NM_001346401.2:c.532G>A, NM_001346401.2:c.532G>C, NM_001346401.1:c.532G>A, NM_001346401.1:c.532G>C, NM_001346399.2:c.544G>A, NM_001346399.2:c.544G>C, NM_001346399.1:c.544G>A, NM_001346399.1:c.544G>C, NM_001346397.2:c.687G>A, NM_001346397.2:c.687G>C, NM_001346397.1:c.687G>A, NM_001346397.1:c.687G>C, NR_144429.2:n.745G>A, NR_144429.2:n.745G>C, NR_144429.1:n.769G>A, NR_144429.1:n.769G>C, NM_001346402.2:c.654G>A, NM_001346402.2:c.654G>C, NM_001346402.1:c.654G>A, NM_001346402.1:c.654G>C, NR_104271.2:n.724G>A, NR_104271.2:n.724G>C, NR_104271.1:n.803G>A, NR_104271.1:n.803G>C, NM_001145438.2:c.693G>A, NM_001145438.2:c.693G>C, NR_027018.2:n.682G>A, NR_027018.2:n.682G>C, NM_001346398.2:c.534G>A, NM_001346398.2:c.534G>C, NM_001346398.1:c.534G>A, NM_001346398.1:c.534G>C, NM_001256240.2:c.534G>A, NM_001256240.2:c.534G>C, NM_001256240.1:c.534G>A, NM_001256240.1:c.534G>C, NM_001346400.2:c.522G>A, NM_001346400.2:c.522G>C, NM_001346400.1:c.522G>A, NM_001346400.1:c.522G>C, NM_001256239.2:c.522G>A, NM_001256239.2:c.522G>C, NM_001256239.1:c.522G>A, NM_001256239.1:c.522G>C, NR_045929.2:n.577G>A, NR_045929.2:n.577G>C, NR_045929.1:n.601G>A, NR_045929.1:n.601G>C, NR_045927.2:n.555G>A, NR_045927.2:n.555G>C, NR_045927.1:n.634G>A, NR_045927.1:n.634G>C, NR_144427.2:n.549G>A, NR_144427.2:n.549G>C, NR_144427.1:n.628G>A, NR_144427.1:n.628G>C, NR_045923.2:n.476G>A, NR_045923.2:n.476G>C, NR_045923.1:n.555G>A, NR_045923.1:n.555G>C, NR_104270.2:n.464G>A, NR_104270.2:n.464G>C, NR_104270.1:n.543G>A, NR_104270.1:n.543G>C, NR_104272.2:n.449G>A, NR_104272.2:n.449G>C, NR_104272.1:n.473G>A, NR_104272.1:n.473G>C, NR_045926.2:n.398G>A, NR_045926.2:n.398G>C, NR_045926.1:n.477G>A, NR_045926.1:n.477G>C, NR_045925.2:n.386G>A, NR_045925.2:n.386G>C, NR_045925.1:n.465G>A, NR_045925.1:n.465G>C, NR_144430.2:n.208G>A, NR_144430.2:n.208G>C, NR_144430.1:n.232G>A, NR_144430.1:n.232G>C, NM_001256236.1:c.888G>A, NM_001256236.1:c.888G>C, NM_001346403.1:c.796G>A, NM_001346403.1:c.796G>C, NM_001256237.1:c.784G>A, NM_001256237.1:c.784G>C, NM_001283038.1:c.705G>A, NM_001283038.1:c.705G>C, NM_001346404.1:c.613G>A, NM_001346404.1:c.613G>C, NM_001256238.1:c.607G>A, NM_001256238.1:c.607G>C, NM_001283039.1:c.658G>A, NM_001283039.1:c.658G>C, NM_001256235.1:c.588G>A, NM_001256235.1:c.588G>C, NM_001346405.1:c.534G>A, NM_001346405.1:c.534G>C, NM_001283040.1:c.277G>A, NM_001283040.1:c.277G>C, XM_006718181.4:c.720G>A, XM_006718181.4:c.720G>C, XM_006718181.3:c.720G>A, XM_006718181.3:c.720G>C, XM_006718181.2:c.720G>A, XM_006718181.2:c.720G>C, XM_006718181.1:c.720G>A, XM_006718181.1:c.720G>C, XM_011519998.3:c.819G>A, XM_011519998.3:c.819G>C, XM_011519998.2:c.819G>A, XM_011519998.2:c.819G>C, XM_011519998.1:c.819G>A, XM_011519998.1:c.819G>C, XM_011520004.3:c.870G>A, XM_011520004.3:c.870G>C, XM_011520004.2:c.717G>A, XM_011520004.2:c.717G>C, XM_011520004.1:c.717G>A, XM_011520004.1:c.717G>C, XM_011519990.3:c.717G>A, XM_011519990.3:c.717G>C, XM_011519990.2:c.945G>A, XM_011519990.2:c.945G>C, XM_011519990.1:c.717G>A, XM_011519990.1:c.717G>C, XM_011519991.3:c.705G>A, XM_011519991.3:c.705G>C, XM_011519991.2:c.933G>A, XM_011519991.2:c.933G>C, XM_011519991.1:c.705G>A, XM_011519991.1:c.705G>C, XM_006718185.3:c.615G>A, XM_006718185.3:c.615G>C, XM_006718185.2:c.615G>A, XM_006718185.2:c.615G>C, XM_006718185.1:c.615G>A, XM_006718185.1:c.615G>C, XM_011519992.2:c.885G>A, XM_011519992.2:c.885G>C, XM_011519992.1:c.885G>A, XM_011519992.1:c.885G>C, XM_011519996.2:c.837G>A, XM_011519996.2:c.837G>C, XM_011519996.1:c.837G>A, XM_011519996.1:c.837G>C, XM_011519999.2:c.819G>A, XM_011519999.2:c.819G>C, XM_011519999.1:c.819G>A, XM_011519999.1:c.819G>C, XM_024448444.2:c.576G>A, XM_024448444.2:c.576G>C, XM_024448444.1:c.576G>A, XM_024448444.1:c.576G>C, XM_024448443.2:c.576G>A, XM_024448443.2:c.576G>C, XM_024448443.1:c.576G>A, XM_024448443.1:c.576G>C, XM_011520002.2:c.522G>A, XM_011520002.2:c.522G>C, XM_011520002.1:c.522G>A, XM_011520002.1:c.522G>C, XM_047426778.1:c.873G>A, XM_047426778.1:c.873G>C, XM_047426777.1:c.876G>A, XM_047426777.1:c.876G>C, XM_047426780.1:c.798G>A, XM_047426780.1:c.798G>C, NR_027015.1:n.830G>A, NR_027015.1:n.830G>C, XM_047426781.1:c.705G>A, XM_047426781.1:c.705G>C, XM_047426786.1:c.537G>A, XM_047426786.1:c.537G>C, XM_047426779.1:c.588G>A, XM_047426779.1:c.588G>C, XM_047426783.1:c.588G>A, XM_047426783.1:c.588G>C, XM_047426788.1:c.597G>A, XM_047426788.1:c.597G>C, XM_047426787.1:c.537G>A, XM_047426787.1:c.537G>C, NR_027014.1:n.671G>A, NR_027014.1:n.671G>C, XM_047426782.1:c.603G>A, XM_047426782.1:c.603G>C, NM_001145439.1:c.394G>A, NM_001145439.1:c.394G>C, XM_047426776.1:c.790G>A, XM_047426776.1:c.790G>C, XM_047426784.1:c.697G>A, XM_047426784.1:c.697G>C, XM_047426785.1:c.685G>A, XM_047426785.1:c.685G>C, XM_047426789.1:c.544G>A, XM_047426789.1:c.544G>C, XM_047426792.1:c.532G>A, XM_047426792.1:c.532G>C, XM_047426793.1:c.640G>A, XM_047426793.1:c.640G>C, XM_047426791.1:c.544G>A, XM_047426791.1:c.544G>C, XM_047426790.1:c.544G>A, XM_047426790.1:c.544G>C, NP_055304.1:p.Lys239Asn, NP_001333330.1:p.Val178Ile, NP_001333330.1:p.Val178Leu, NP_001333328.1:p.Val182Ile, NP_001333328.1:p.Val182Leu, NP_001333326.1:p.Lys229Asn, NP_001333331.1:p.Lys218Asn, NP_001138910.1:p.Lys231Asn, NP_001333327.1:p.Lys178Asn, NP_001243169.1:p.Lys178Asn, NP_001333329.1:p.Lys174Asn, NP_001243168.1:p.Lys174Asn, NP_001243165.1:p.Lys296Asn, NP_001333332.1:p.Val266Ile, NP_001333332.1:p.Val266Leu, NP_001243166.1:p.Val262Ile, NP_001243166.1:p.Val262Leu, NP_001269967.1:p.Lys235Asn, NP_001333333.1:p.Val205Ile, NP_001333333.1:p.Val205Leu, NP_001243167.1:p.Val203Ile, NP_001243167.1:p.Val203Leu, NP_001269968.1:p.Val220Ile, NP_001269968.1:p.Val220Leu, NP_001243164.1:p.Lys196Asn, NP_001333334.1:p.Lys178Asn, NP_001269969.1:p.Val93Ile, NP_001269969.1:p.Val93Leu, XP_006718244.1:p.Lys240Asn, XP_011518300.1:p.Lys273Asn, XP_011518306.2:p.Lys290Asn, XP_011518292.3:p.Lys239Asn, XP_011518293.3:p.Lys235Asn, XP_006718248.1:p.Lys205Asn, XP_011518294.1:p.Lys295Asn, XP_011518298.1:p.Lys279Asn, XP_011518301.1:p.Lys273Asn, XP_024304212.1:p.Lys192Asn, XP_024304211.1:p.Lys192Asn, XP_011518304.1:p.Lys174Asn, XP_047282734.1:p.Lys291Asn, XP_047282733.1:p.Lys292Asn, XP_047282736.1:p.Lys266Asn, XP_047282737.1:p.Lys235Asn, XP_047282742.1:p.Lys179Asn, XP_047282735.1:p.Lys196Asn, XP_047282739.1:p.Lys196Asn, XP_047282744.1:p.Lys199Asn, XP_047282743.1:p.Lys179Asn, XP_047282738.1:p.Lys201Asn, XP_047282732.1:p.Val264Ile, XP_047282732.1:p.Val264Leu, XP_047282740.1:p.Val233Ile, XP_047282740.1:p.Val233Leu, XP_047282741.1:p.Val229Ile, XP_047282741.1:p.Val229Leu, XP_047282745.1:p.Val182Ile, XP_047282745.1:p.Val182Leu, XP_047282748.1:p.Val178Ile, XP_047282748.1:p.Val178Leu, XP_047282749.1:p.Val214Ile, XP_047282749.1:p.Val214Leu, XP_047282747.1:p.Val182Ile, XP_047282747.1:p.Val182Leu, XP_047282746.1:p.Val182Ile, XP_047282746.1:p.Val182Leu

          5.

          rs1482050810 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:3811316 (GRCh38)
            11:3832546 (GRCh37)
            Canonical SPDI:
            NC_000011.10:3811315:C:T
            Gene:
            PGAP2 (Varview), LOC124902618 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.3811316C>T, NC_000011.9:g.3832546C>T, NG_051812.1:g.18593C>T, NR_027017.4:n.292C>T, NR_027017.3:n.371C>T, NR_027017.2:n.231C>T, NM_014489.4:c.57C>T, NM_014489.3:c.57C>T, NR_144428.2:n.159C>T, NR_144428.1:n.183C>T, NM_001346401.2:c.-147C>T, NM_001346401.1:c.-147C>T, NM_001346399.2:c.-147C>T, NM_001346399.1:c.-147C>T, NM_001346397.2:c.210C>T, NM_001346397.1:c.210C>T, NM_001346402.2:c.92C>T, NM_001346402.1:c.92C>T, NR_104271.2:n.174C>T, NR_104271.1:n.253C>T, NM_001145438.2:c.228C>T, NM_001346398.2:c.57C>T, NM_001346398.1:c.57C>T, NM_001256240.2:c.57C>T, NM_001256240.1:c.57C>T, NM_001346400.2:c.57C>T, NM_001346400.1:c.57C>T, NM_001256239.2:c.57C>T, NM_001256239.1:c.57C>T, NR_045926.2:n.174C>T, NR_045926.1:n.253C>T, NR_045925.2:n.174C>T, NR_045925.1:n.253C>T, NM_001256236.1:c.228C>T, NM_001346403.1:c.57C>T, NM_001256237.1:c.228C>T, NM_001283038.1:c.228C>T, NM_001346404.1:c.57C>T, NM_001256238.1:c.57C>T, NM_001256235.1:c.26C>T, NM_001346405.1:c.57C>T, XM_011519998.3:c.26C>T, XM_011519998.2:c.26C>T, XM_011519998.1:c.26C>T, XM_011520004.3:c.210C>T, XM_011520004.2:c.57C>T, XM_011520004.1:c.57C>T, XM_011519990.3:c.57C>T, XM_011519990.2:c.285C>T, XM_011519990.1:c.57C>T, XM_011519991.3:c.57C>T, XM_011519991.2:c.285C>T, XM_011519991.1:c.57C>T, XM_011519992.2:c.92C>T, XM_011519992.1:c.92C>T, XM_011519996.2:c.92C>T, XM_011519996.1:c.92C>T, XM_011519999.2:c.26C>T, XM_011519999.1:c.26C>T, XM_024448444.2:c.26C>T, XM_024448444.1:c.26C>T, XM_024448443.2:c.26C>T, XM_024448443.1:c.26C>T, XM_011520002.2:c.57C>T, XM_011520002.1:c.57C>T, XM_047426778.1:c.92C>T, XM_047426777.1:c.228C>T, NR_027015.1:n.170C>T, XM_047426781.1:c.57C>T, NR_027014.1:n.109C>T, XM_047426776.1:c.57C>T, XM_047426784.1:c.92C>T, XM_047426785.1:c.92C>T, XR_007062559.1:n.401G>A, NP_001333331.1:p.Ser31Leu, NP_001243164.1:p.Ser9Leu, XP_011518300.1:p.Ser9Leu, XP_011518294.1:p.Ser31Leu, XP_011518298.1:p.Ser31Leu, XP_011518301.1:p.Ser9Leu, XP_024304212.1:p.Ser9Leu, XP_024304211.1:p.Ser9Leu, XP_047282734.1:p.Ser31Leu, XP_047282740.1:p.Ser31Leu, XP_047282741.1:p.Ser31Leu

            6.

            rs1481630715 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GC>- [Show Flanks]
              Chromosome:
              11:3808305 (GRCh38)
              11:3829535 (GRCh37)
              Canonical SPDI:
              NC_000011.10:3808303:CGC:C
              Gene:
              PGAP2 (Varview)
              Functional Consequence:
              frameshift_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              -=0.000006/1 (GnomAD_exomes)
              -=0.000019/5 (TOPMED)
              -=0.000021/3 (GnomAD)
              HGVS:
              NC_000011.10:g.3808305_3808306del, NC_000011.9:g.3829535_3829536del, NG_051812.1:g.15582_15583del, NR_027017.4:n.215_216del, NR_027017.3:n.294_295del, NR_027017.2:n.154_155del, NM_001346401.2:c.-224_-223del, NM_001346401.1:c.-224_-223del, NM_001346399.2:c.-224_-223del, NM_001346399.1:c.-224_-223del, NM_001346397.2:c.133_134del, NM_001346397.1:c.133_134del, NM_001346402.2:c.15_16del, NM_001346402.1:c.15_16del, NR_104271.2:n.97_98del, NR_104271.1:n.176_177del, NM_001145438.2:c.151_152del, NR_027018.2:n.90_91del, NM_001346398.2:c.-21_-20del, NM_001346398.1:c.-21_-20del, NM_001346400.2:c.-21_-20del, NM_001346400.1:c.-21_-20del, NR_045927.2:n.97_98del, NR_045927.1:n.176_177del, NR_144427.2:n.97_98del, NR_144427.1:n.176_177del, NR_045923.2:n.97_98del, NR_045923.1:n.176_177del, NR_104270.2:n.97_98del, NR_104270.1:n.176_177del, NR_045926.2:n.97_98del, NR_045926.1:n.176_177del, NR_045925.2:n.97_98del, NR_045925.1:n.176_177del, NM_001256236.1:c.151_152del, NM_001346403.1:c.-21_-20del, NM_001256237.1:c.151_152del, NM_001283038.1:c.151_152del, NM_001346404.1:c.-21_-20del, NM_001256238.1:c.-21_-20del, NM_001283039.1:c.151_152del, NM_001256235.1:c.-52_-51del, NM_001346405.1:c.-21_-20del, NM_001283040.1:c.151_152del, XM_011519998.3:c.-52_-51del, XM_011519998.2:c.-52_-51del, XM_011519998.1:c.-52_-51del, XM_011520004.3:c.133_134del, XM_011520004.2:c.-21_-20del, XM_011520004.1:c.-21_-20del, XM_011519990.3:c.-21_-20del, XM_011519990.2:c.208_209del, XM_011519990.1:c.-21_-20del, XM_011519991.3:c.-21_-20del, XM_011519991.2:c.208_209del, XM_011519991.1:c.-21_-20del, XM_006718185.3:c.151_152del, XM_006718185.2:c.151_152del, XM_006718185.1:c.151_152del, XM_011519992.2:c.15_16del, XM_011519992.1:c.15_16del, XM_011519996.2:c.15_16del, XM_011519996.1:c.15_16del, XM_011519999.2:c.-52_-51del, XM_011519999.1:c.-52_-51del, XM_024448444.2:c.-52_-51del, XM_024448444.1:c.-52_-51del, XM_011520002.2:c.-21_-20del, XM_011520002.1:c.-21_-20del, XM_047426778.1:c.15_16del, XM_047426777.1:c.151_152del, XM_047426780.1:c.151_152del, NR_027015.1:n.93_94del, XM_047426786.1:c.-26_-25del, XM_047426779.1:c.-60_-59del, XM_047426788.1:c.133_134del, XM_047426787.1:c.-26_-25del, NR_027014.1:n.32_33del, XM_047426782.1:c.151_152del, NM_001145439.1:c.15_16del, XM_047426776.1:c.-21_-20del, XM_047426784.1:c.15_16del, XM_047426785.1:c.15_16del, XM_047426789.1:c.-49_-48del, XM_047426792.1:c.-49_-48del, XM_047426793.1:c.133_134del, NP_001333326.1:p.Ala45fs, NP_001333331.1:p.Gln6fs, NP_001138910.1:p.Ala51fs, NP_001243165.1:p.Ala51fs, NP_001243166.1:p.Ala51fs, NP_001269967.1:p.Ala51fs, NP_001269968.1:p.Ala51fs, NP_001269969.1:p.Ala51fs, XP_011518306.2:p.Ala45fs, XP_006718248.1:p.Ala51fs, XP_011518294.1:p.Gln6fs, XP_011518298.1:p.Gln6fs, XP_047282734.1:p.Gln6fs, XP_047282733.1:p.Ala51fs, XP_047282736.1:p.Ala51fs, XP_047282744.1:p.Ala45fs, XP_047282738.1:p.Ala51fs, XP_047282740.1:p.Gln6fs, XP_047282741.1:p.Gln6fs, XP_047282749.1:p.Ala45fs

              7.

              rs1477702737 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:3825354 (GRCh38)
                11:3846584 (GRCh37)
                Canonical SPDI:
                NC_000011.10:3825353:T:C
                Gene:
                PGAP2 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.3825354T>C, NC_000011.9:g.3846584T>C, NG_051812.1:g.32631T>C, NR_027017.4:n.1205T>C, NR_027017.3:n.1284T>C, NR_027017.2:n.1144T>C, NM_014489.4:c.844T>C, NM_014489.3:c.844T>C, NR_027016.3:n.588T>C, NR_027016.2:n.612T>C, NR_144428.2:n.1120T>C, NR_144428.1:n.1144T>C, NM_001346401.2:c.*35T>C, NM_001346401.1:c.*35T>C, NM_001346399.2:c.*35T>C, NM_001346399.1:c.*35T>C, NM_001346397.2:c.814T>C, NM_001346397.1:c.814T>C, NR_144429.2:n.872T>C, NR_144429.1:n.896T>C, NM_001346402.2:c.781T>C, NM_001346402.1:c.781T>C, NR_104271.2:n.851T>C, NR_104271.1:n.930T>C, NM_001145438.2:c.820T>C, NR_027018.2:n.809T>C, NM_001346398.2:c.661T>C, NM_001346398.1:c.661T>C, NM_001256240.2:c.661T>C, NM_001256240.1:c.661T>C, NM_001346400.2:c.649T>C, NM_001346400.1:c.649T>C, NM_001256239.2:c.649T>C, NM_001256239.1:c.649T>C, NR_045929.2:n.704T>C, NR_045929.1:n.728T>C, NR_045927.2:n.682T>C, NR_045927.1:n.761T>C, NR_144427.2:n.676T>C, NR_144427.1:n.755T>C, NR_045923.2:n.603T>C, NR_045923.1:n.682T>C, NR_104270.2:n.591T>C, NR_104270.1:n.670T>C, NR_104272.2:n.576T>C, NR_104272.1:n.600T>C, NR_045926.2:n.525T>C, NR_045926.1:n.604T>C, NR_045925.2:n.513T>C, NR_045925.1:n.592T>C, NR_144430.2:n.335T>C, NR_144430.1:n.359T>C, NM_001256236.1:c.1015T>C, NM_001346403.1:c.*35T>C, NM_001256237.1:c.*35T>C, NM_001283038.1:c.832T>C, NM_001346404.1:c.*35T>C, NM_001256238.1:c.*35T>C, NM_001283039.1:c.*35T>C, NM_001256235.1:c.715T>C, NM_001346405.1:c.661T>C, NM_001283040.1:c.*35T>C, XM_006718181.4:c.847T>C, XM_006718181.3:c.847T>C, XM_006718181.2:c.847T>C, XM_006718181.1:c.847T>C, XM_011519998.3:c.946T>C, XM_011519998.2:c.946T>C, XM_011519998.1:c.946T>C, XM_011520004.3:c.997T>C, XM_011520004.2:c.844T>C, XM_011520004.1:c.844T>C, XM_011519990.3:c.844T>C, XM_011519990.2:c.1072T>C, XM_011519990.1:c.844T>C, XM_011519991.3:c.832T>C, XM_011519991.2:c.1060T>C, XM_011519991.1:c.832T>C, XM_006718185.3:c.742T>C, XM_006718185.2:c.742T>C, XM_006718185.1:c.742T>C, XM_011519992.2:c.1012T>C, XM_011519992.1:c.1012T>C, XM_011519996.2:c.964T>C, XM_011519996.1:c.964T>C, XM_011519999.2:c.946T>C, XM_011519999.1:c.946T>C, XM_024448444.2:c.703T>C, XM_024448444.1:c.703T>C, XM_024448443.2:c.703T>C, XM_024448443.1:c.703T>C, XM_011520002.2:c.649T>C, XM_011520002.1:c.649T>C, XM_047426778.1:c.1000T>C, XM_047426777.1:c.1003T>C, XM_047426780.1:c.925T>C, NR_027015.1:n.957T>C, XM_047426781.1:c.832T>C, XM_047426786.1:c.664T>C, XM_047426779.1:c.715T>C, XM_047426783.1:c.715T>C, XM_047426788.1:c.724T>C, XM_047426787.1:c.664T>C, NR_027014.1:n.798T>C, XM_047426782.1:c.730T>C, NM_001145439.1:c.*35T>C, NP_055304.1:p.Tyr282His, NP_001333326.1:p.Tyr272His, NP_001333331.1:p.Tyr261His, NP_001138910.1:p.Tyr274His, NP_001333327.1:p.Tyr221His, NP_001243169.1:p.Tyr221His, NP_001333329.1:p.Tyr217His, NP_001243168.1:p.Tyr217His, NP_001243165.1:p.Tyr339His, NP_001269967.1:p.Tyr278His, NP_001243164.1:p.Tyr239His, NP_001333334.1:p.Tyr221His, XP_006718244.1:p.Tyr283His, XP_011518300.1:p.Tyr316His, XP_011518306.2:p.Tyr333His, XP_011518292.3:p.Tyr282His, XP_011518293.3:p.Tyr278His, XP_006718248.1:p.Tyr248His, XP_011518294.1:p.Tyr338His, XP_011518298.1:p.Tyr322His, XP_011518301.1:p.Tyr316His, XP_024304212.1:p.Tyr235His, XP_024304211.1:p.Tyr235His, XP_011518304.1:p.Tyr217His, XP_047282734.1:p.Tyr334His, XP_047282733.1:p.Tyr335His, XP_047282736.1:p.Tyr309His, XP_047282737.1:p.Tyr278His, XP_047282742.1:p.Tyr222His, XP_047282735.1:p.Tyr239His, XP_047282739.1:p.Tyr239His, XP_047282744.1:p.Tyr242His, XP_047282743.1:p.Tyr222His, XP_047282738.1:p.Tyr244His

                8.

                rs1469298061 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:3823999 (GRCh38)
                  11:3845229 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:3823998:C:T
                  Gene:
                  PGAP2 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000111/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.3823999C>T, NC_000011.9:g.3845229C>T, NG_051812.1:g.31276C>T, NR_027017.4:n.602C>T, NR_027017.3:n.681C>T, NR_027017.2:n.541C>T, NM_014489.4:c.465C>T, NM_014489.3:c.465C>T, NR_027016.3:n.209C>T, NR_027016.2:n.233C>T, NR_144428.2:n.469C>T, NR_144428.1:n.493C>T, NM_001346401.2:c.292C>T, NM_001346401.1:c.292C>T, NM_001346399.2:c.292C>T, NM_001346399.1:c.292C>T, NM_001346397.2:c.435C>T, NM_001346397.1:c.435C>T, NR_144429.2:n.209C>T, NR_144429.1:n.233C>T, NM_001346402.2:c.402C>T, NM_001346402.1:c.402C>T, NR_104271.2:n.484C>T, NR_104271.1:n.563C>T, NM_001145438.2:c.453C>T, NR_027018.2:n.430C>T, NM_001346398.2:c.282C>T, NM_001346398.1:c.282C>T, NM_001256240.2:c.282C>T, NM_001256240.1:c.282C>T, NM_001346400.2:c.282C>T, NM_001346400.1:c.282C>T, NM_001256239.2:c.282C>T, NM_001256239.1:c.282C>T, NR_045929.2:n.337C>T, NR_045929.1:n.361C>T, NR_045927.2:n.224C>T, NR_045927.1:n.303C>T, NR_144427.2:n.224C>T, NR_144427.1:n.303C>T, NR_045923.2:n.224C>T, NR_045923.1:n.303C>T, NR_104270.2:n.224C>T, NR_104270.1:n.303C>T, NR_104272.2:n.209C>T, NR_104272.1:n.233C>T, NM_001256236.1:c.636C>T, NM_001346403.1:c.465C>T, NM_001256237.1:c.453C>T, NM_001283038.1:c.453C>T, NM_001346404.1:c.282C>T, NM_001256238.1:c.282C>T, NM_001283039.1:c.406C>T, NM_001256235.1:c.336C>T, NM_001346405.1:c.282C>T, XM_006718181.4:c.468C>T, XM_006718181.3:c.468C>T, XM_006718181.2:c.468C>T, XM_006718181.1:c.468C>T, XM_011519998.3:c.567C>T, XM_011519998.2:c.567C>T, XM_011519998.1:c.567C>T, XM_011520004.3:c.618C>T, XM_011520004.2:c.465C>T, XM_011520004.1:c.465C>T, XM_011519990.3:c.465C>T, XM_011519990.2:c.693C>T, XM_011519990.1:c.465C>T, XM_011519991.3:c.465C>T, XM_011519991.2:c.693C>T, XM_011519991.1:c.465C>T, XM_006718185.3:c.363C>T, XM_006718185.2:c.363C>T, XM_006718185.1:c.363C>T, XM_011519992.2:c.633C>T, XM_011519992.1:c.633C>T, XM_011519996.2:c.585C>T, XM_011519996.1:c.585C>T, XM_011519999.2:c.567C>T, XM_011519999.1:c.567C>T, XM_024448444.2:c.336C>T, XM_024448444.1:c.336C>T, XM_024448443.2:c.336C>T, XM_024448443.1:c.336C>T, XM_011520002.2:c.282C>T, XM_011520002.1:c.282C>T, XM_047426778.1:c.633C>T, XM_047426777.1:c.636C>T, XM_047426780.1:c.546C>T, NR_027015.1:n.578C>T, XM_047426781.1:c.465C>T, XM_047426786.1:c.285C>T, XM_047426779.1:c.336C>T, XM_047426783.1:c.336C>T, XM_047426788.1:c.345C>T, XM_047426787.1:c.285C>T, NR_027014.1:n.419C>T, XM_047426782.1:c.363C>T, NM_001145439.1:c.142C>T, XM_047426776.1:c.465C>T, XM_047426784.1:c.445C>T, XM_047426785.1:c.445C>T, XM_047426789.1:c.292C>T, XM_047426792.1:c.292C>T, XM_047426793.1:c.388C>T, XM_047426791.1:c.292C>T, XM_047426790.1:c.292C>T

                  9.

                  rs1469181658 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:3825090 (GRCh38)
                    11:3846320 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:3825089:C:G
                    Gene:
                    PGAP2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.3825090C>G, NC_000011.9:g.3846320C>G, NG_051812.1:g.32367C>G, NR_027017.4:n.1140C>G, NR_027017.3:n.1219C>G, NR_027017.2:n.1079C>G, NM_014489.4:c.779C>G, NM_014489.3:c.779C>G, NR_027016.3:n.523C>G, NR_027016.2:n.547C>G, NR_144428.2:n.1055C>G, NR_144428.1:n.1079C>G, NM_001346401.2:c.594C>G, NM_001346401.1:c.594C>G, NM_001346399.2:c.606C>G, NM_001346399.1:c.606C>G, NM_001346397.2:c.749C>G, NM_001346397.1:c.749C>G, NR_144429.2:n.807C>G, NR_144429.1:n.831C>G, NM_001346402.2:c.716C>G, NM_001346402.1:c.716C>G, NR_104271.2:n.786C>G, NR_104271.1:n.865C>G, NM_001145438.2:c.755C>G, NR_027018.2:n.744C>G, NM_001346398.2:c.596C>G, NM_001346398.1:c.596C>G, NM_001256240.2:c.596C>G, NM_001256240.1:c.596C>G, NM_001346400.2:c.584C>G, NM_001346400.1:c.584C>G, NM_001256239.2:c.584C>G, NM_001256239.1:c.584C>G, NR_045929.2:n.639C>G, NR_045929.1:n.663C>G, NR_045927.2:n.617C>G, NR_045927.1:n.696C>G, NR_144427.2:n.611C>G, NR_144427.1:n.690C>G, NR_045923.2:n.538C>G, NR_045923.1:n.617C>G, NR_104270.2:n.526C>G, NR_104270.1:n.605C>G, NR_104272.2:n.511C>G, NR_104272.1:n.535C>G, NR_045926.2:n.460C>G, NR_045926.1:n.539C>G, NR_045925.2:n.448C>G, NR_045925.1:n.527C>G, NR_144430.2:n.270C>G, NR_144430.1:n.294C>G, NM_001256236.1:c.950C>G, NM_001346403.1:c.858C>G, NM_001256237.1:c.846C>G, NM_001283038.1:c.767C>G, NM_001346404.1:c.675C>G, NM_001256238.1:c.669C>G, NM_001283039.1:c.720C>G, NM_001256235.1:c.650C>G, NM_001346405.1:c.596C>G, NM_001283040.1:c.339C>G, XM_006718181.4:c.782C>G, XM_006718181.3:c.782C>G, XM_006718181.2:c.782C>G, XM_006718181.1:c.782C>G, XM_011519998.3:c.881C>G, XM_011519998.2:c.881C>G, XM_011519998.1:c.881C>G, XM_011520004.3:c.932C>G, XM_011520004.2:c.779C>G, XM_011520004.1:c.779C>G, XM_011519990.3:c.779C>G, XM_011519990.2:c.1007C>G, XM_011519990.1:c.779C>G, XM_011519991.3:c.767C>G, XM_011519991.2:c.995C>G, XM_011519991.1:c.767C>G, XM_006718185.3:c.677C>G, XM_006718185.2:c.677C>G, XM_006718185.1:c.677C>G, XM_011519992.2:c.947C>G, XM_011519992.1:c.947C>G, XM_011519996.2:c.899C>G, XM_011519996.1:c.899C>G, XM_011519999.2:c.881C>G, XM_011519999.1:c.881C>G, XM_024448444.2:c.638C>G, XM_024448444.1:c.638C>G, XM_024448443.2:c.638C>G, XM_024448443.1:c.638C>G, XM_011520002.2:c.584C>G, XM_011520002.1:c.584C>G, XM_047426778.1:c.935C>G, XM_047426777.1:c.938C>G, XM_047426780.1:c.860C>G, NR_027015.1:n.892C>G, XM_047426781.1:c.767C>G, XM_047426786.1:c.599C>G, XM_047426779.1:c.650C>G, XM_047426783.1:c.650C>G, XM_047426788.1:c.659C>G, XM_047426787.1:c.599C>G, NR_027014.1:n.733C>G, XM_047426782.1:c.665C>G, NM_001145439.1:c.456C>G, XM_047426776.1:c.852C>G, XM_047426784.1:c.759C>G, XM_047426785.1:c.747C>G, XM_047426789.1:c.606C>G, XM_047426792.1:c.594C>G, XM_047426793.1:c.702C>G, XM_047426791.1:c.606C>G, XM_047426790.1:c.606C>G, NP_055304.1:p.Ala260Gly, NP_001333326.1:p.Ala250Gly, NP_001333331.1:p.Ala239Gly, NP_001138910.1:p.Ala252Gly, NP_001333327.1:p.Ala199Gly, NP_001243169.1:p.Ala199Gly, NP_001333329.1:p.Ala195Gly, NP_001243168.1:p.Ala195Gly, NP_001243165.1:p.Ala317Gly, NP_001269967.1:p.Ala256Gly, NP_001243164.1:p.Ala217Gly, NP_001333334.1:p.Ala199Gly, XP_006718244.1:p.Ala261Gly, XP_011518300.1:p.Ala294Gly, XP_011518306.2:p.Ala311Gly, XP_011518292.3:p.Ala260Gly, XP_011518293.3:p.Ala256Gly, XP_006718248.1:p.Ala226Gly, XP_011518294.1:p.Ala316Gly, XP_011518298.1:p.Ala300Gly, XP_011518301.1:p.Ala294Gly, XP_024304212.1:p.Ala213Gly, XP_024304211.1:p.Ala213Gly, XP_011518304.1:p.Ala195Gly, XP_047282734.1:p.Ala312Gly, XP_047282733.1:p.Ala313Gly, XP_047282736.1:p.Ala287Gly, XP_047282737.1:p.Ala256Gly, XP_047282742.1:p.Ala200Gly, XP_047282735.1:p.Ala217Gly, XP_047282739.1:p.Ala217Gly, XP_047282744.1:p.Ala220Gly, XP_047282743.1:p.Ala200Gly, XP_047282738.1:p.Ala222Gly

                    10.

                    rs1469110249 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:3824126 (GRCh38)
                      11:3845356 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:3824125:G:A
                      Gene:
                      PGAP2 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.3824126G>A, NC_000011.9:g.3845356G>A, NG_051812.1:g.31403G>A, NR_027017.4:n.729G>A, NR_027017.3:n.808G>A, NR_027017.2:n.668G>A, NM_014489.4:c.592G>A, NM_014489.3:c.592G>A, NR_027016.3:n.336G>A, NR_027016.2:n.360G>A, NR_144428.2:n.596G>A, NR_144428.1:n.620G>A, NM_001346401.2:c.419G>A, NM_001346401.1:c.419G>A, NM_001346399.2:c.419G>A, NM_001346399.1:c.419G>A, NM_001346397.2:c.562G>A, NM_001346397.1:c.562G>A, NR_144429.2:n.336G>A, NR_144429.1:n.360G>A, NM_001346402.2:c.529G>A, NM_001346402.1:c.529G>A, NR_104271.2:n.611G>A, NR_104271.1:n.690G>A, NM_001145438.2:c.580G>A, NR_027018.2:n.557G>A, NM_001346398.2:c.409G>A, NM_001346398.1:c.409G>A, NM_001256240.2:c.409G>A, NM_001256240.1:c.409G>A, NM_001346400.2:c.409G>A, NM_001346400.1:c.409G>A, NM_001256239.2:c.409G>A, NM_001256239.1:c.409G>A, NR_045929.2:n.464G>A, NR_045929.1:n.488G>A, NR_045927.2:n.351G>A, NR_045927.1:n.430G>A, NR_144427.2:n.351G>A, NR_144427.1:n.430G>A, NR_045923.2:n.351G>A, NR_045923.1:n.430G>A, NR_104270.2:n.351G>A, NR_104270.1:n.430G>A, NR_104272.2:n.336G>A, NR_104272.1:n.360G>A, NM_001256236.1:c.763G>A, NM_001346403.1:c.592G>A, NM_001256237.1:c.580G>A, NM_001283038.1:c.580G>A, NM_001346404.1:c.409G>A, NM_001256238.1:c.409G>A, NM_001283039.1:c.533G>A, NM_001256235.1:c.463G>A, NM_001346405.1:c.409G>A, XM_006718181.4:c.595G>A, XM_006718181.3:c.595G>A, XM_006718181.2:c.595G>A, XM_006718181.1:c.595G>A, XM_011519998.3:c.694G>A, XM_011519998.2:c.694G>A, XM_011519998.1:c.694G>A, XM_011520004.3:c.745G>A, XM_011520004.2:c.592G>A, XM_011520004.1:c.592G>A, XM_011519990.3:c.592G>A, XM_011519990.2:c.820G>A, XM_011519990.1:c.592G>A, XM_011519991.3:c.592G>A, XM_011519991.2:c.820G>A, XM_011519991.1:c.592G>A, XM_006718185.3:c.490G>A, XM_006718185.2:c.490G>A, XM_006718185.1:c.490G>A, XM_011519992.2:c.760G>A, XM_011519992.1:c.760G>A, XM_011519996.2:c.712G>A, XM_011519996.1:c.712G>A, XM_011519999.2:c.694G>A, XM_011519999.1:c.694G>A, XM_024448444.2:c.463G>A, XM_024448444.1:c.463G>A, XM_024448443.2:c.463G>A, XM_024448443.1:c.463G>A, XM_011520002.2:c.409G>A, XM_011520002.1:c.409G>A, XM_047426778.1:c.760G>A, XM_047426777.1:c.763G>A, XM_047426780.1:c.673G>A, NR_027015.1:n.705G>A, XM_047426781.1:c.592G>A, XM_047426786.1:c.412G>A, XM_047426779.1:c.463G>A, XM_047426783.1:c.463G>A, XM_047426788.1:c.472G>A, XM_047426787.1:c.412G>A, NR_027014.1:n.546G>A, XM_047426782.1:c.490G>A, NM_001145439.1:c.269G>A, XM_047426776.1:c.592G>A, XM_047426784.1:c.572G>A, XM_047426785.1:c.572G>A, XM_047426789.1:c.419G>A, XM_047426792.1:c.419G>A, XM_047426793.1:c.515G>A, XM_047426791.1:c.419G>A, XM_047426790.1:c.419G>A, NP_055304.1:p.Glu198Lys, NP_001333330.1:p.Arg140Gln, NP_001333328.1:p.Arg140Gln, NP_001333326.1:p.Glu188Lys, NP_001333331.1:p.Glu177Lys, NP_001138910.1:p.Glu194Lys, NP_001333327.1:p.Glu137Lys, NP_001243169.1:p.Glu137Lys, NP_001333329.1:p.Glu137Lys, NP_001243168.1:p.Glu137Lys, NP_001243165.1:p.Glu255Lys, NP_001333332.1:p.Glu198Lys, NP_001243166.1:p.Glu194Lys, NP_001269967.1:p.Glu194Lys, NP_001333333.1:p.Glu137Lys, NP_001243167.1:p.Glu137Lys, NP_001269968.1:p.Arg178Gln, NP_001243164.1:p.Glu155Lys, NP_001333334.1:p.Glu137Lys, XP_006718244.1:p.Glu199Lys, XP_011518300.1:p.Glu232Lys, XP_011518306.2:p.Glu249Lys, XP_011518292.3:p.Glu198Lys, XP_011518293.3:p.Glu198Lys, XP_006718248.1:p.Glu164Lys, XP_011518294.1:p.Glu254Lys, XP_011518298.1:p.Glu238Lys, XP_011518301.1:p.Glu232Lys, XP_024304212.1:p.Glu155Lys, XP_024304211.1:p.Glu155Lys, XP_011518304.1:p.Glu137Lys, XP_047282734.1:p.Glu254Lys, XP_047282733.1:p.Glu255Lys, XP_047282736.1:p.Glu225Lys, XP_047282737.1:p.Glu198Lys, XP_047282742.1:p.Glu138Lys, XP_047282735.1:p.Glu155Lys, XP_047282739.1:p.Glu155Lys, XP_047282744.1:p.Glu158Lys, XP_047282743.1:p.Glu138Lys, XP_047282738.1:p.Glu164Lys, XP_047282732.1:p.Glu198Lys, XP_047282740.1:p.Arg191Gln, XP_047282741.1:p.Arg191Gln, XP_047282745.1:p.Arg140Gln, XP_047282748.1:p.Arg140Gln, XP_047282749.1:p.Arg172Gln, XP_047282747.1:p.Arg140Gln, XP_047282746.1:p.Arg140Gln

                      11.

                      rs1467315949 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:3823997 (GRCh38)
                        11:3845227 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:3823996:G:A
                        Gene:
                        PGAP2 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000011.10:g.3823997G>A, NC_000011.9:g.3845227G>A, NG_051812.1:g.31274G>A, NR_027017.4:n.600G>A, NR_027017.3:n.679G>A, NR_027017.2:n.539G>A, NM_014489.4:c.463G>A, NM_014489.3:c.463G>A, NR_027016.3:n.207G>A, NR_027016.2:n.231G>A, NR_144428.2:n.467G>A, NR_144428.1:n.491G>A, NM_001346401.2:c.290G>A, NM_001346401.1:c.290G>A, NM_001346399.2:c.290G>A, NM_001346399.1:c.290G>A, NM_001346397.2:c.433G>A, NM_001346397.1:c.433G>A, NR_144429.2:n.207G>A, NR_144429.1:n.231G>A, NM_001346402.2:c.400G>A, NM_001346402.1:c.400G>A, NR_104271.2:n.482G>A, NR_104271.1:n.561G>A, NM_001145438.2:c.451G>A, NR_027018.2:n.428G>A, NM_001346398.2:c.280G>A, NM_001346398.1:c.280G>A, NM_001256240.2:c.280G>A, NM_001256240.1:c.280G>A, NM_001346400.2:c.280G>A, NM_001346400.1:c.280G>A, NM_001256239.2:c.280G>A, NM_001256239.1:c.280G>A, NR_045929.2:n.335G>A, NR_045929.1:n.359G>A, NR_045927.2:n.222G>A, NR_045927.1:n.301G>A, NR_144427.2:n.222G>A, NR_144427.1:n.301G>A, NR_045923.2:n.222G>A, NR_045923.1:n.301G>A, NR_104270.2:n.222G>A, NR_104270.1:n.301G>A, NR_104272.2:n.207G>A, NR_104272.1:n.231G>A, NM_001256236.1:c.634G>A, NM_001346403.1:c.463G>A, NM_001256237.1:c.451G>A, NM_001283038.1:c.451G>A, NM_001346404.1:c.280G>A, NM_001256238.1:c.280G>A, NM_001283039.1:c.404G>A, NM_001256235.1:c.334G>A, NM_001346405.1:c.280G>A, XM_006718181.4:c.466G>A, XM_006718181.3:c.466G>A, XM_006718181.2:c.466G>A, XM_006718181.1:c.466G>A, XM_011519998.3:c.565G>A, XM_011519998.2:c.565G>A, XM_011519998.1:c.565G>A, XM_011520004.3:c.616G>A, XM_011520004.2:c.463G>A, XM_011520004.1:c.463G>A, XM_011519990.3:c.463G>A, XM_011519990.2:c.691G>A, XM_011519990.1:c.463G>A, XM_011519991.3:c.463G>A, XM_011519991.2:c.691G>A, XM_011519991.1:c.463G>A, XM_006718185.3:c.361G>A, XM_006718185.2:c.361G>A, XM_006718185.1:c.361G>A, XM_011519992.2:c.631G>A, XM_011519992.1:c.631G>A, XM_011519996.2:c.583G>A, XM_011519996.1:c.583G>A, XM_011519999.2:c.565G>A, XM_011519999.1:c.565G>A, XM_024448444.2:c.334G>A, XM_024448444.1:c.334G>A, XM_024448443.2:c.334G>A, XM_024448443.1:c.334G>A, XM_011520002.2:c.280G>A, XM_011520002.1:c.280G>A, XM_047426778.1:c.631G>A, XM_047426777.1:c.634G>A, XM_047426780.1:c.544G>A, NR_027015.1:n.576G>A, XM_047426781.1:c.463G>A, XM_047426786.1:c.283G>A, XM_047426779.1:c.334G>A, XM_047426783.1:c.334G>A, XM_047426788.1:c.343G>A, XM_047426787.1:c.283G>A, NR_027014.1:n.417G>A, XM_047426782.1:c.361G>A, NM_001145439.1:c.140G>A, XM_047426776.1:c.463G>A, XM_047426784.1:c.443G>A, XM_047426785.1:c.443G>A, XM_047426789.1:c.290G>A, XM_047426792.1:c.290G>A, XM_047426793.1:c.386G>A, XM_047426791.1:c.290G>A, XM_047426790.1:c.290G>A, NP_055304.1:p.Ala155Thr, NP_001333330.1:p.Arg97His, NP_001333328.1:p.Arg97His, NP_001333326.1:p.Ala145Thr, NP_001333331.1:p.Ala134Thr, NP_001138910.1:p.Ala151Thr, NP_001333327.1:p.Ala94Thr, NP_001243169.1:p.Ala94Thr, NP_001333329.1:p.Ala94Thr, NP_001243168.1:p.Ala94Thr, NP_001243165.1:p.Ala212Thr, NP_001333332.1:p.Ala155Thr, NP_001243166.1:p.Ala151Thr, NP_001269967.1:p.Ala151Thr, NP_001333333.1:p.Ala94Thr, NP_001243167.1:p.Ala94Thr, NP_001269968.1:p.Arg135His, NP_001243164.1:p.Ala112Thr, NP_001333334.1:p.Ala94Thr, XP_006718244.1:p.Ala156Thr, XP_011518300.1:p.Ala189Thr, XP_011518306.2:p.Ala206Thr, XP_011518292.3:p.Ala155Thr, XP_011518293.3:p.Ala155Thr, XP_006718248.1:p.Ala121Thr, XP_011518294.1:p.Ala211Thr, XP_011518298.1:p.Ala195Thr, XP_011518301.1:p.Ala189Thr, XP_024304212.1:p.Ala112Thr, XP_024304211.1:p.Ala112Thr, XP_011518304.1:p.Ala94Thr, XP_047282734.1:p.Ala211Thr, XP_047282733.1:p.Ala212Thr, XP_047282736.1:p.Ala182Thr, XP_047282737.1:p.Ala155Thr, XP_047282742.1:p.Ala95Thr, XP_047282735.1:p.Ala112Thr, XP_047282739.1:p.Ala112Thr, XP_047282744.1:p.Ala115Thr, XP_047282743.1:p.Ala95Thr, XP_047282738.1:p.Ala121Thr, XP_047282732.1:p.Ala155Thr, XP_047282740.1:p.Arg148His, XP_047282741.1:p.Arg148His, XP_047282745.1:p.Arg97His, XP_047282748.1:p.Arg97His, XP_047282749.1:p.Arg129His, XP_047282747.1:p.Arg97His, XP_047282746.1:p.Arg97His

                        12.

                        rs1466915285 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:3823940 (GRCh38)
                          11:3845170 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:3823939:T:C
                          Gene:
                          PGAP2 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000011.10:g.3823940T>C, NC_000011.9:g.3845170T>C, NG_051812.1:g.31217T>C, NR_027017.4:n.543T>C, NR_027017.3:n.622T>C, NR_027017.2:n.482T>C, NM_014489.4:c.406T>C, NM_014489.3:c.406T>C, NR_027016.3:n.150T>C, NR_027016.2:n.174T>C, NR_144428.2:n.410T>C, NR_144428.1:n.434T>C, NM_001346401.2:c.233T>C, NM_001346401.1:c.233T>C, NM_001346399.2:c.233T>C, NM_001346399.1:c.233T>C, NM_001346397.2:c.376T>C, NM_001346397.1:c.376T>C, NR_144429.2:n.150T>C, NR_144429.1:n.174T>C, NM_001346402.2:c.343T>C, NM_001346402.1:c.343T>C, NR_104271.2:n.425T>C, NR_104271.1:n.504T>C, NM_001145438.2:c.394T>C, NR_027018.2:n.371T>C, NM_001346398.2:c.223T>C, NM_001346398.1:c.223T>C, NM_001256240.2:c.223T>C, NM_001256240.1:c.223T>C, NM_001346400.2:c.223T>C, NM_001346400.1:c.223T>C, NM_001256239.2:c.223T>C, NM_001256239.1:c.223T>C, NR_045929.2:n.278T>C, NR_045929.1:n.302T>C, NR_045927.2:n.165T>C, NR_045927.1:n.244T>C, NR_144427.2:n.165T>C, NR_144427.1:n.244T>C, NR_045923.2:n.165T>C, NR_045923.1:n.244T>C, NR_104270.2:n.165T>C, NR_104270.1:n.244T>C, NR_104272.2:n.150T>C, NR_104272.1:n.174T>C, NM_001256236.1:c.577T>C, NM_001346403.1:c.406T>C, NM_001256237.1:c.394T>C, NM_001283038.1:c.394T>C, NM_001346404.1:c.223T>C, NM_001256238.1:c.223T>C, NM_001283039.1:c.347T>C, NM_001256235.1:c.277T>C, NM_001346405.1:c.223T>C, XM_006718181.4:c.409T>C, XM_006718181.3:c.409T>C, XM_006718181.2:c.409T>C, XM_006718181.1:c.409T>C, XM_011519998.3:c.508T>C, XM_011519998.2:c.508T>C, XM_011519998.1:c.508T>C, XM_011520004.3:c.559T>C, XM_011520004.2:c.406T>C, XM_011520004.1:c.406T>C, XM_011519990.3:c.406T>C, XM_011519990.2:c.634T>C, XM_011519990.1:c.406T>C, XM_011519991.3:c.406T>C, XM_011519991.2:c.634T>C, XM_011519991.1:c.406T>C, XM_006718185.3:c.304T>C, XM_006718185.2:c.304T>C, XM_006718185.1:c.304T>C, XM_011519992.2:c.574T>C, XM_011519992.1:c.574T>C, XM_011519996.2:c.526T>C, XM_011519996.1:c.526T>C, XM_011519999.2:c.508T>C, XM_011519999.1:c.508T>C, XM_024448444.2:c.277T>C, XM_024448444.1:c.277T>C, XM_024448443.2:c.277T>C, XM_024448443.1:c.277T>C, XM_011520002.2:c.223T>C, XM_011520002.1:c.223T>C, XM_047426778.1:c.574T>C, XM_047426777.1:c.577T>C, XM_047426780.1:c.487T>C, NR_027015.1:n.519T>C, XM_047426781.1:c.406T>C, XM_047426786.1:c.226T>C, XM_047426779.1:c.277T>C, XM_047426783.1:c.277T>C, XM_047426788.1:c.286T>C, XM_047426787.1:c.226T>C, NR_027014.1:n.360T>C, XM_047426782.1:c.304T>C, NM_001145439.1:c.83T>C, XM_047426776.1:c.406T>C, XM_047426784.1:c.386T>C, XM_047426785.1:c.386T>C, XM_047426789.1:c.233T>C, XM_047426792.1:c.233T>C, XM_047426793.1:c.329T>C, XM_047426791.1:c.233T>C, XM_047426790.1:c.233T>C, NP_055304.1:p.Tyr136His, NP_001333330.1:p.Leu78Pro, NP_001333328.1:p.Leu78Pro, NP_001333326.1:p.Tyr126His, NP_001333331.1:p.Tyr115His, NP_001138910.1:p.Tyr132His, NP_001333327.1:p.Tyr75His, NP_001243169.1:p.Tyr75His, NP_001333329.1:p.Tyr75His, NP_001243168.1:p.Tyr75His, NP_001243165.1:p.Tyr193His, NP_001333332.1:p.Tyr136His, NP_001243166.1:p.Tyr132His, NP_001269967.1:p.Tyr132His, NP_001333333.1:p.Tyr75His, NP_001243167.1:p.Tyr75His, NP_001269968.1:p.Leu116Pro, NP_001243164.1:p.Tyr93His, NP_001333334.1:p.Tyr75His, XP_006718244.1:p.Tyr137His, XP_011518300.1:p.Tyr170His, XP_011518306.2:p.Tyr187His, XP_011518292.3:p.Tyr136His, XP_011518293.3:p.Tyr136His, XP_006718248.1:p.Tyr102His, XP_011518294.1:p.Tyr192His, XP_011518298.1:p.Tyr176His, XP_011518301.1:p.Tyr170His, XP_024304212.1:p.Tyr93His, XP_024304211.1:p.Tyr93His, XP_011518304.1:p.Tyr75His, XP_047282734.1:p.Tyr192His, XP_047282733.1:p.Tyr193His, XP_047282736.1:p.Tyr163His, XP_047282737.1:p.Tyr136His, XP_047282742.1:p.Tyr76His, XP_047282735.1:p.Tyr93His, XP_047282739.1:p.Tyr93His, XP_047282744.1:p.Tyr96His, XP_047282743.1:p.Tyr76His, XP_047282738.1:p.Tyr102His, XP_047282732.1:p.Tyr136His, XP_047282740.1:p.Leu129Pro, XP_047282741.1:p.Leu129Pro, XP_047282745.1:p.Leu78Pro, XP_047282748.1:p.Leu78Pro, XP_047282749.1:p.Leu110Pro, XP_047282747.1:p.Leu78Pro, XP_047282746.1:p.Leu78Pro

                          13.

                          rs1466667957 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            11:3824338 (GRCh38)
                            11:3845568 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:3824337:C:A
                            Gene:
                            PGAP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.3824338C>A, NC_000011.9:g.3845568C>A, NG_051812.1:g.31615C>A, NR_027017.4:n.807C>A, NR_027017.3:n.886C>A, NR_027017.2:n.746C>A, NM_014489.4:c.670C>A, NM_014489.3:c.670C>A, NR_027016.3:n.414C>A, NR_027016.2:n.438C>A, NR_144428.2:n.674C>A, NR_144428.1:n.698C>A, NM_001346401.2:c.497C>A, NM_001346401.1:c.497C>A, NM_001346399.2:c.497C>A, NM_001346399.1:c.497C>A, NM_001346397.2:c.640C>A, NM_001346397.1:c.640C>A, NR_144429.2:n.414C>A, NR_144429.1:n.438C>A, NM_001346402.2:c.607C>A, NM_001346402.1:c.607C>A, NR_104271.2:n.689C>A, NR_104271.1:n.768C>A, NM_001145438.2:c.658C>A, NR_027018.2:n.635C>A, NM_001346398.2:c.487C>A, NM_001346398.1:c.487C>A, NM_001256240.2:c.487C>A, NM_001256240.1:c.487C>A, NM_001346400.2:c.487C>A, NM_001346400.1:c.487C>A, NM_001256239.2:c.487C>A, NM_001256239.1:c.487C>A, NR_045929.2:n.542C>A, NR_045929.1:n.566C>A, NR_045927.2:n.429C>A, NR_045927.1:n.508C>A, NR_144427.2:n.429C>A, NR_144427.1:n.508C>A, NR_045923.2:n.429C>A, NR_045923.1:n.508C>A, NR_104270.2:n.429C>A, NR_104270.1:n.508C>A, NR_104272.2:n.414C>A, NR_104272.1:n.438C>A, NR_045926.2:n.351C>A, NR_045926.1:n.430C>A, NR_045925.2:n.351C>A, NR_045925.1:n.430C>A, NR_144430.2:n.161C>A, NR_144430.1:n.185C>A, NM_001256236.1:c.841C>A, NM_001346403.1:c.670C>A, NM_001256237.1:c.658C>A, NM_001283038.1:c.658C>A, NM_001346404.1:c.487C>A, NM_001256238.1:c.487C>A, NM_001283039.1:c.611C>A, NM_001256235.1:c.541C>A, NM_001346405.1:c.487C>A, NM_001283040.1:c.230C>A, XM_006718181.4:c.673C>A, XM_006718181.3:c.673C>A, XM_006718181.2:c.673C>A, XM_006718181.1:c.673C>A, XM_011519998.3:c.772C>A, XM_011519998.2:c.772C>A, XM_011519998.1:c.772C>A, XM_011520004.3:c.823C>A, XM_011520004.2:c.670C>A, XM_011520004.1:c.670C>A, XM_011519990.3:c.670C>A, XM_011519990.2:c.898C>A, XM_011519990.1:c.670C>A, XM_011519991.3:c.670C>A, XM_011519991.2:c.898C>A, XM_011519991.1:c.670C>A, XM_006718185.3:c.568C>A, XM_006718185.2:c.568C>A, XM_006718185.1:c.568C>A, XM_011519992.2:c.838C>A, XM_011519992.1:c.838C>A, XM_011519996.2:c.790C>A, XM_011519996.1:c.790C>A, XM_011519999.2:c.772C>A, XM_011519999.1:c.772C>A, XM_024448444.2:c.541C>A, XM_024448444.1:c.541C>A, XM_024448443.2:c.541C>A, XM_024448443.1:c.541C>A, XM_011520002.2:c.487C>A, XM_011520002.1:c.487C>A, XM_047426778.1:c.838C>A, XM_047426777.1:c.841C>A, XM_047426780.1:c.751C>A, NR_027015.1:n.783C>A, XM_047426781.1:c.670C>A, XM_047426786.1:c.490C>A, XM_047426779.1:c.541C>A, XM_047426783.1:c.541C>A, XM_047426788.1:c.550C>A, XM_047426787.1:c.490C>A, NR_027014.1:n.624C>A, XM_047426782.1:c.568C>A, NM_001145439.1:c.347C>A, XM_047426776.1:c.670C>A, XM_047426784.1:c.650C>A, XM_047426785.1:c.650C>A, XM_047426789.1:c.497C>A, XM_047426792.1:c.497C>A, XM_047426793.1:c.593C>A, XM_047426791.1:c.497C>A, XM_047426790.1:c.497C>A, NP_055304.1:p.Leu224Ile, NP_001333330.1:p.Ser166Tyr, NP_001333328.1:p.Ser166Tyr, NP_001333326.1:p.Leu214Ile, NP_001333331.1:p.Leu203Ile, NP_001138910.1:p.Leu220Ile, NP_001333327.1:p.Leu163Ile, NP_001243169.1:p.Leu163Ile, NP_001333329.1:p.Leu163Ile, NP_001243168.1:p.Leu163Ile, NP_001243165.1:p.Leu281Ile, NP_001333332.1:p.Leu224Ile, NP_001243166.1:p.Leu220Ile, NP_001269967.1:p.Leu220Ile, NP_001333333.1:p.Leu163Ile, NP_001243167.1:p.Leu163Ile, NP_001269968.1:p.Ser204Tyr, NP_001243164.1:p.Leu181Ile, NP_001333334.1:p.Leu163Ile, NP_001269969.1:p.Ser77Tyr, XP_006718244.1:p.Leu225Ile, XP_011518300.1:p.Leu258Ile, XP_011518306.2:p.Leu275Ile, XP_011518292.3:p.Leu224Ile, XP_011518293.3:p.Leu224Ile, XP_006718248.1:p.Leu190Ile, XP_011518294.1:p.Leu280Ile, XP_011518298.1:p.Leu264Ile, XP_011518301.1:p.Leu258Ile, XP_024304212.1:p.Leu181Ile, XP_024304211.1:p.Leu181Ile, XP_011518304.1:p.Leu163Ile, XP_047282734.1:p.Leu280Ile, XP_047282733.1:p.Leu281Ile, XP_047282736.1:p.Leu251Ile, XP_047282737.1:p.Leu224Ile, XP_047282742.1:p.Leu164Ile, XP_047282735.1:p.Leu181Ile, XP_047282739.1:p.Leu181Ile, XP_047282744.1:p.Leu184Ile, XP_047282743.1:p.Leu164Ile, XP_047282738.1:p.Leu190Ile, XP_047282732.1:p.Leu224Ile, XP_047282740.1:p.Ser217Tyr, XP_047282741.1:p.Ser217Tyr, XP_047282745.1:p.Ser166Tyr, XP_047282748.1:p.Ser166Tyr, XP_047282749.1:p.Ser198Tyr, XP_047282747.1:p.Ser166Tyr, XP_047282746.1:p.Ser166Tyr

                            14.

                            rs1466558742 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              11:3824371 (GRCh38)
                              11:3845601 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:3824370:C:G
                              Gene:
                              PGAP2 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_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_000011.10:g.3824371C>G, NC_000011.9:g.3845601C>G, NG_051812.1:g.31648C>G, NR_027017.4:n.840C>G, NR_027017.3:n.919C>G, NR_027017.2:n.779C>G, NM_014489.4:c.703C>G, NM_014489.3:c.703C>G, NR_027016.3:n.447C>G, NR_027016.2:n.471C>G, NM_001346399.2:c.530C>G, NM_001346399.1:c.530C>G, NM_001346397.2:c.673C>G, NM_001346397.1:c.673C>G, NR_144429.2:n.447C>G, NR_144429.1:n.471C>G, NM_001346402.2:c.640C>G, NM_001346402.1:c.640C>G, NR_027018.2:n.668C>G, NM_001346398.2:c.520C>G, NM_001346398.1:c.520C>G, NM_001256240.2:c.520C>G, NM_001256240.1:c.520C>G, NR_045927.2:n.462C>G, NR_045927.1:n.541C>G, NR_144427.2:n.462C>G, NR_144427.1:n.541C>G, NR_045923.2:n.462C>G, NR_045923.1:n.541C>G, NR_045926.2:n.384C>G, NR_045926.1:n.463C>G, NR_144430.2:n.194C>G, NR_144430.1:n.218C>G, NM_001256236.1:c.874C>G, NM_001346403.1:c.703C>G, NM_001256237.1:c.691C>G, NM_001283038.1:c.691C>G, NM_001346404.1:c.520C>G, NM_001256238.1:c.520C>G, NM_001283039.1:c.644C>G, NM_001256235.1:c.574C>G, NM_001346405.1:c.520C>G, NM_001283040.1:c.263C>G, XM_006718181.4:c.706C>G, XM_006718181.3:c.706C>G, XM_006718181.2:c.706C>G, XM_006718181.1:c.706C>G, XM_011519998.3:c.805C>G, XM_011519998.2:c.805C>G, XM_011519998.1:c.805C>G, XM_011520004.3:c.856C>G, XM_011520004.2:c.703C>G, XM_011520004.1:c.703C>G, XM_011519990.3:c.703C>G, XM_011519990.2:c.931C>G, XM_011519990.1:c.703C>G, XM_006718185.3:c.601C>G, XM_006718185.2:c.601C>G, XM_006718185.1:c.601C>G, XM_011519992.2:c.871C>G, XM_011519992.1:c.871C>G, XM_011519996.2:c.823C>G, XM_011519996.1:c.823C>G, XM_011519999.2:c.805C>G, XM_011519999.1:c.805C>G, XM_047426780.1:c.784C>G, NR_027015.1:n.816C>G, XM_047426786.1:c.523C>G, XM_047426779.1:c.574C>G, XM_047426783.1:c.574C>G, XM_047426788.1:c.583C>G, XM_047426787.1:c.523C>G, NR_027014.1:n.657C>G, NM_001145439.1:c.380C>G, XM_047426776.1:c.703C>G, XM_047426784.1:c.683C>G, XM_047426789.1:c.530C>G, XM_047426793.1:c.626C>G, XM_047426791.1:c.530C>G, XM_047426790.1:c.530C>G, NP_055304.1:p.Gln235Glu, NP_001333328.1:p.Ser177Ter, NP_001333326.1:p.Gln225Glu, NP_001333331.1:p.Gln214Glu, NP_001333327.1:p.Gln174Glu, NP_001243169.1:p.Gln174Glu, NP_001243165.1:p.Gln292Glu, NP_001333332.1:p.Gln235Glu, NP_001243166.1:p.Gln231Glu, NP_001269967.1:p.Gln231Glu, NP_001333333.1:p.Gln174Glu, NP_001243167.1:p.Gln174Glu, NP_001269968.1:p.Ser215Ter, NP_001243164.1:p.Gln192Glu, NP_001333334.1:p.Gln174Glu, NP_001269969.1:p.Ser88Ter, XP_006718244.1:p.Gln236Glu, XP_011518300.1:p.Gln269Glu, XP_011518306.2:p.Gln286Glu, XP_011518292.3:p.Gln235Glu, XP_006718248.1:p.Gln201Glu, XP_011518294.1:p.Gln291Glu, XP_011518298.1:p.Gln275Glu, XP_011518301.1:p.Gln269Glu, XP_047282736.1:p.Gln262Glu, XP_047282742.1:p.Gln175Glu, XP_047282735.1:p.Gln192Glu, XP_047282739.1:p.Gln192Glu, XP_047282744.1:p.Gln195Glu, XP_047282743.1:p.Gln175Glu, XP_047282732.1:p.Gln235Glu, XP_047282740.1:p.Ser228Ter, XP_047282745.1:p.Ser177Ter, XP_047282749.1:p.Ser209Ter, XP_047282747.1:p.Ser177Ter, XP_047282746.1:p.Ser177Ter

                              15.

                              rs1466288500 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                11:3798032 (GRCh38)
                                11:3819262 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:3798031:G:A,NC_000011.10:3798031:G:T
                                Gene:
                                NUP98 (Varview), PGAP2 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.3798032G>A, NC_000011.10:g.3798032G>T, NC_000011.9:g.3819262G>A, NC_000011.9:g.3819262G>T, NG_051812.1:g.5309G>A, NG_051812.1:g.5309G>T, NR_027017.4:n.135G>A, NR_027017.4:n.135G>T, NR_027017.3:n.214G>A, NR_027017.3:n.214G>T, NR_027017.2:n.74G>A, NR_027017.2:n.74G>T, NM_001346401.2:c.-304G>A, NM_001346401.2:c.-304G>T, NM_001346401.1:c.-304G>A, NM_001346401.1:c.-304G>T, NM_001346397.2:c.53G>A, NM_001346397.2:c.53G>T, NM_001346397.1:c.53G>A, NM_001346397.1:c.53G>T, XM_011519998.3:c.-132G>A, XM_011519998.3:c.-132G>T, XM_011519998.1:c.-132G>A, XM_011519998.1:c.-132G>T, XM_011520004.3:c.53G>A, XM_011520004.3:c.53G>T, XM_011520004.1:c.-101G>A, XM_011520004.1:c.-101G>T, XM_047426788.1:c.53G>A, XM_047426788.1:c.53G>T, XM_047426793.1:c.53G>A, XM_047426793.1:c.53G>T, NP_001333326.1:p.Arg18Lys, NP_001333326.1:p.Arg18Met, XP_011518306.2:p.Arg18Lys, XP_011518306.2:p.Arg18Met, XP_047282744.1:p.Arg18Lys, XP_047282744.1:p.Arg18Met, XP_047282749.1:p.Arg18Lys, XP_047282749.1:p.Arg18Met

                                16.

                                rs1465890582 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:3825122 (GRCh38)
                                  11:3846352 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:3825121:G:T
                                  Gene:
                                  PGAP2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.3825122G>T, NC_000011.9:g.3846352G>T, NG_051812.1:g.32399G>T, NR_027017.4:n.1172G>T, NR_027017.3:n.1251G>T, NR_027017.2:n.1111G>T, NM_014489.4:c.811G>T, NM_014489.3:c.811G>T, NR_027016.3:n.555G>T, NR_027016.2:n.579G>T, NR_144428.2:n.1087G>T, NR_144428.1:n.1111G>T, NM_001346401.2:c.*2G>T, NM_001346401.1:c.*2G>T, NM_001346399.2:c.*2G>T, NM_001346399.1:c.*2G>T, NM_001346397.2:c.781G>T, NM_001346397.1:c.781G>T, NR_144429.2:n.839G>T, NR_144429.1:n.863G>T, NM_001346402.2:c.748G>T, NM_001346402.1:c.748G>T, NR_104271.2:n.818G>T, NR_104271.1:n.897G>T, NM_001145438.2:c.787G>T, NR_027018.2:n.776G>T, NM_001346398.2:c.628G>T, NM_001346398.1:c.628G>T, NM_001256240.2:c.628G>T, NM_001256240.1:c.628G>T, NM_001346400.2:c.616G>T, NM_001346400.1:c.616G>T, NM_001256239.2:c.616G>T, NM_001256239.1:c.616G>T, NR_045929.2:n.671G>T, NR_045929.1:n.695G>T, NR_045927.2:n.649G>T, NR_045927.1:n.728G>T, NR_144427.2:n.643G>T, NR_144427.1:n.722G>T, NR_045923.2:n.570G>T, NR_045923.1:n.649G>T, NR_104270.2:n.558G>T, NR_104270.1:n.637G>T, NR_104272.2:n.543G>T, NR_104272.1:n.567G>T, NR_045926.2:n.492G>T, NR_045926.1:n.571G>T, NR_045925.2:n.480G>T, NR_045925.1:n.559G>T, NR_144430.2:n.302G>T, NR_144430.1:n.326G>T, NM_001256236.1:c.982G>T, NM_001346403.1:c.*2G>T, NM_001256237.1:c.*2G>T, NM_001283038.1:c.799G>T, NM_001346404.1:c.*2G>T, NM_001256238.1:c.*2G>T, NM_001283039.1:c.*2G>T, NM_001256235.1:c.682G>T, NM_001346405.1:c.628G>T, NM_001283040.1:c.*2G>T, XM_006718181.4:c.814G>T, XM_006718181.3:c.814G>T, XM_006718181.2:c.814G>T, XM_006718181.1:c.814G>T, XM_011519998.3:c.913G>T, XM_011519998.2:c.913G>T, XM_011519998.1:c.913G>T, XM_011520004.3:c.964G>T, XM_011520004.2:c.811G>T, XM_011520004.1:c.811G>T, XM_011519990.3:c.811G>T, XM_011519990.2:c.1039G>T, XM_011519990.1:c.811G>T, XM_011519991.3:c.799G>T, XM_011519991.2:c.1027G>T, XM_011519991.1:c.799G>T, XM_006718185.3:c.709G>T, XM_006718185.2:c.709G>T, XM_006718185.1:c.709G>T, XM_011519992.2:c.979G>T, XM_011519992.1:c.979G>T, XM_011519996.2:c.931G>T, XM_011519996.1:c.931G>T, XM_011519999.2:c.913G>T, XM_011519999.1:c.913G>T, XM_024448444.2:c.670G>T, XM_024448444.1:c.670G>T, XM_024448443.2:c.670G>T, XM_024448443.1:c.670G>T, XM_011520002.2:c.616G>T, XM_011520002.1:c.616G>T, XM_047426778.1:c.967G>T, XM_047426777.1:c.970G>T, XM_047426780.1:c.892G>T, NR_027015.1:n.924G>T, XM_047426781.1:c.799G>T, XM_047426786.1:c.631G>T, XM_047426779.1:c.682G>T, XM_047426783.1:c.682G>T, XM_047426788.1:c.691G>T, XM_047426787.1:c.631G>T, NR_027014.1:n.765G>T, XM_047426782.1:c.697G>T, NM_001145439.1:c.*2G>T, XM_047426776.1:c.*2G>T, XM_047426784.1:c.*2G>T, XM_047426785.1:c.*2G>T, XM_047426789.1:c.*2G>T, XM_047426792.1:c.*2G>T, XM_047426793.1:c.*2G>T, XM_047426791.1:c.*2G>T, XM_047426790.1:c.*2G>T, NP_055304.1:p.Ala271Ser, NP_001333326.1:p.Ala261Ser, NP_001333331.1:p.Ala250Ser, NP_001138910.1:p.Ala263Ser, NP_001333327.1:p.Ala210Ser, NP_001243169.1:p.Ala210Ser, NP_001333329.1:p.Ala206Ser, NP_001243168.1:p.Ala206Ser, NP_001243165.1:p.Ala328Ser, NP_001269967.1:p.Ala267Ser, NP_001243164.1:p.Ala228Ser, NP_001333334.1:p.Ala210Ser, XP_006718244.1:p.Ala272Ser, XP_011518300.1:p.Ala305Ser, XP_011518306.2:p.Ala322Ser, XP_011518292.3:p.Ala271Ser, XP_011518293.3:p.Ala267Ser, XP_006718248.1:p.Ala237Ser, XP_011518294.1:p.Ala327Ser, XP_011518298.1:p.Ala311Ser, XP_011518301.1:p.Ala305Ser, XP_024304212.1:p.Ala224Ser, XP_024304211.1:p.Ala224Ser, XP_011518304.1:p.Ala206Ser, XP_047282734.1:p.Ala323Ser, XP_047282733.1:p.Ala324Ser, XP_047282736.1:p.Ala298Ser, XP_047282737.1:p.Ala267Ser, XP_047282742.1:p.Ala211Ser, XP_047282735.1:p.Ala228Ser, XP_047282739.1:p.Ala228Ser, XP_047282744.1:p.Ala231Ser, XP_047282743.1:p.Ala211Ser, XP_047282738.1:p.Ala233Ser

                                  17.

                                  rs1464492710 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    11:3798009 (GRCh38)
                                    11:3819239 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:3798008:C:A,NC_000011.10:3798008:C:T
                                    Gene:
                                    NUP98 (Varview), PGAP2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000019/5 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1460489845 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      T>- [Show Flanks]
                                      Chromosome:
                                      11:3797998 (GRCh38)
                                      11:3819228 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:3797997:TTT:TT
                                      Gene:
                                      NUP98 (Varview), PGAP2 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TT=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD_exomes)
                                      -=0.000008/2 (TOPMED)
                                      -=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1454919303 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:3798063 (GRCh38)
                                        11:3819293 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:3798062:C:T
                                        Gene:
                                        NUP98 (Varview), PGAP2 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000023/6 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1451989147 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:3798086 (GRCh38)
                                          11:3819316 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:3798085:G:A
                                          Gene:
                                          NUP98 (Varview), PGAP2 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000034/9 (TOPMED)
                                          A=0.000036/5 (GnomAD)
                                          HGVS:

                                          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...