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 Nucleotide

Items: 1 to 20 of 573

1.

rs1491257727 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    11:3825734 (GRCh38)
    11:3846964 (GRCh37)
    Canonical SPDI:
    NC_000011.10:3825733:AC:
    Gene:
    PGAP2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    NC_000011.10:g.3825734_3825735del, NC_000011.9:g.3846964_3846965del, NG_051812.1:g.33011_33012del, NR_027017.4:n.1585_1586del, NR_027017.3:n.1664_1665del, NR_027017.2:n.1524_1525del, NM_014489.4:c.*276_*277del, NM_014489.3:c.*276_*277del, NR_027016.3:n.968_969del, NR_027016.2:n.992_993del, NR_144428.2:n.1500_1501del, NR_144428.1:n.1524_1525del, NM_001346401.2:c.*415_*416del, NM_001346401.1:c.*415_*416del, NM_001346399.2:c.*415_*416del, NM_001346399.1:c.*415_*416del, NM_001346397.2:c.*276_*277del, NM_001346397.1:c.*276_*277del, NR_144429.2:n.1252_1253del, NR_144429.1:n.1276_1277del, NM_001346402.2:c.*276_*277del, NM_001346402.1:c.*276_*277del, NR_104271.2:n.1231_1232del, NR_104271.1:n.1310_1311del, NM_001145438.2:c.*276_*277del, NR_027018.2:n.1189_1190del, NM_001346398.2:c.*276_*277del, NM_001346398.1:c.*276_*277del, NM_001256240.2:c.*276_*277del, NM_001256240.1:c.*276_*277del, NM_001346400.2:c.*276_*277del, NM_001346400.1:c.*276_*277del, NM_001256239.2:c.*276_*277del, NM_001256239.1:c.*276_*277del, NR_045929.2:n.1084_1085del, NR_045929.1:n.1108_1109del, NR_045927.2:n.1062_1063del, NR_045927.1:n.1141_1142del, NR_144427.2:n.1056_1057del, NR_144427.1:n.1135_1136del, NR_045923.2:n.983_984del, NR_045923.1:n.1062_1063del, NR_104270.2:n.971_972del, NR_104270.1:n.1050_1051del, NR_104272.2:n.956_957del, NR_104272.1:n.980_981del, NR_045926.2:n.905_906del, NR_045926.1:n.984_985del, NR_045925.2:n.893_894del, NR_045925.1:n.972_973del, NR_144430.2:n.715_716del, NR_144430.1:n.739_740del, NM_001256236.1:c.*276_*277del, NM_001346403.1:c.*415_*416del, NM_001256237.1:c.*415_*416del, NM_001283038.1:c.*276_*277del, NM_001346404.1:c.*415_*416del, NM_001256238.1:c.*415_*416del, NM_001283039.1:c.*415_*416del, NM_001256235.1:c.*276_*277del, NM_001346405.1:c.*276_*277del, NM_001283040.1:c.*415_*416del, XM_006718181.4:c.*276_*277del, XM_006718181.3:c.*276_*277del, XM_006718181.2:c.*276_*277del, XM_006718181.1:c.*276_*277del, XM_011519998.3:c.*276_*277del, XM_011519998.2:c.*276_*277del, XM_011519998.1:c.*276_*277del, XM_011520004.3:c.*276_*277del, XM_011520004.2:c.*276_*277del, XM_011520004.1:c.*276_*277del, XM_011519990.3:c.*276_*277del, XM_011519990.2:c.*276_*277del, XM_011519990.1:c.*276_*277del, XM_011519991.3:c.*276_*277del, XM_011519991.2:c.*276_*277del, XM_011519991.1:c.*276_*277del, XM_006718185.3:c.*276_*277del, XM_006718185.2:c.*276_*277del, XM_006718185.1:c.*276_*277del, XM_011519992.2:c.*276_*277del, XM_011519992.1:c.*276_*277del, XM_011519996.2:c.*276_*277del, XM_011519996.1:c.*276_*277del, XM_011519999.2:c.*276_*277del, XM_011519999.1:c.*276_*277del, XM_024448444.2:c.*276_*277del, XM_024448444.1:c.*276_*277del, XM_024448443.2:c.*276_*277del, XM_024448443.1:c.*276_*277del, XM_011520002.2:c.*276_*277del, XM_011520002.1:c.*276_*277del, XM_047426778.1:c.*276_*277del, XM_047426777.1:c.*276_*277del, XM_047426780.1:c.*276_*277del, NR_027015.1:n.1337_1338del, XM_047426781.1:c.*276_*277del, XM_047426786.1:c.*276_*277del, XM_047426779.1:c.*276_*277del, XM_047426783.1:c.*276_*277del, XM_047426788.1:c.*276_*277del, XM_047426787.1:c.*276_*277del, NR_027014.1:n.1178_1179del, XM_047426782.1:c.*276_*277del, NM_001145439.1:c.*415_*416del

    2.

    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

      3.

      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

        4.

        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

          5.

          rs1486345585 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            11:3825728 (GRCh38)
            11:3846959 (GRCh37)
            Canonical SPDI:
            NC_000011.10:3825728::G
            Gene:
            PGAP2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/4 (TOPMED)
            G=0.000021/3 (GnomAD)
            HGVS:
            NC_000011.10:g.3825728_3825729insG, NC_000011.9:g.3846958_3846959insG, NG_051812.1:g.33005_33006insG, NR_027017.4:n.1579_1580insG, NR_027017.3:n.1658_1659insG, NR_027017.2:n.1518_1519insG, NM_014489.4:c.*270_*271insG, NM_014489.3:c.*270_*271insG, NR_027016.3:n.962_963insG, NR_027016.2:n.986_987insG, NR_144428.2:n.1494_1495insG, NR_144428.1:n.1518_1519insG, NM_001346401.2:c.*409_*410insG, NM_001346401.1:c.*409_*410insG, NM_001346399.2:c.*409_*410insG, NM_001346399.1:c.*409_*410insG, NM_001346397.2:c.*270_*271insG, NM_001346397.1:c.*270_*271insG, NR_144429.2:n.1246_1247insG, NR_144429.1:n.1270_1271insG, NM_001346402.2:c.*270_*271insG, NM_001346402.1:c.*270_*271insG, NR_104271.2:n.1225_1226insG, NR_104271.1:n.1304_1305insG, NM_001145438.2:c.*270_*271insG, NR_027018.2:n.1183_1184insG, NM_001346398.2:c.*270_*271insG, NM_001346398.1:c.*270_*271insG, NM_001256240.2:c.*270_*271insG, NM_001256240.1:c.*270_*271insG, NM_001346400.2:c.*270_*271insG, NM_001346400.1:c.*270_*271insG, NM_001256239.2:c.*270_*271insG, NM_001256239.1:c.*270_*271insG, NR_045929.2:n.1078_1079insG, NR_045929.1:n.1102_1103insG, NR_045927.2:n.1056_1057insG, NR_045927.1:n.1135_1136insG, NR_144427.2:n.1050_1051insG, NR_144427.1:n.1129_1130insG, NR_045923.2:n.977_978insG, NR_045923.1:n.1056_1057insG, NR_104270.2:n.965_966insG, NR_104270.1:n.1044_1045insG, NR_104272.2:n.950_951insG, NR_104272.1:n.974_975insG, NR_045926.2:n.899_900insG, NR_045926.1:n.978_979insG, NR_045925.2:n.887_888insG, NR_045925.1:n.966_967insG, NR_144430.2:n.709_710insG, NR_144430.1:n.733_734insG, NM_001256236.1:c.*270_*271insG, NM_001346403.1:c.*409_*410insG, NM_001256237.1:c.*409_*410insG, NM_001283038.1:c.*270_*271insG, NM_001346404.1:c.*409_*410insG, NM_001256238.1:c.*409_*410insG, NM_001283039.1:c.*409_*410insG, NM_001256235.1:c.*270_*271insG, NM_001346405.1:c.*270_*271insG, NM_001283040.1:c.*409_*410insG, XM_006718181.4:c.*270_*271insG, XM_006718181.3:c.*270_*271insG, XM_006718181.2:c.*270_*271insG, XM_006718181.1:c.*270_*271insG, XM_011519998.3:c.*270_*271insG, XM_011519998.2:c.*270_*271insG, XM_011519998.1:c.*270_*271insG, XM_011520004.3:c.*270_*271insG, XM_011520004.2:c.*270_*271insG, XM_011520004.1:c.*270_*271insG, XM_011519990.3:c.*270_*271insG, XM_011519990.2:c.*270_*271insG, XM_011519990.1:c.*270_*271insG, XM_011519991.3:c.*270_*271insG, XM_011519991.2:c.*270_*271insG, XM_011519991.1:c.*270_*271insG, XM_006718185.3:c.*270_*271insG, XM_006718185.2:c.*270_*271insG, XM_006718185.1:c.*270_*271insG, XM_011519992.2:c.*270_*271insG, XM_011519992.1:c.*270_*271insG, XM_011519996.2:c.*270_*271insG, XM_011519996.1:c.*270_*271insG, XM_011519999.2:c.*270_*271insG, XM_011519999.1:c.*270_*271insG, XM_024448444.2:c.*270_*271insG, XM_024448444.1:c.*270_*271insG, XM_024448443.2:c.*270_*271insG, XM_024448443.1:c.*270_*271insG, XM_011520002.2:c.*270_*271insG, XM_011520002.1:c.*270_*271insG, XM_047426778.1:c.*270_*271insG, XM_047426777.1:c.*270_*271insG, XM_047426780.1:c.*270_*271insG, NR_027015.1:n.1331_1332insG, XM_047426781.1:c.*270_*271insG, XM_047426786.1:c.*270_*271insG, XM_047426779.1:c.*270_*271insG, XM_047426783.1:c.*270_*271insG, XM_047426788.1:c.*270_*271insG, XM_047426787.1:c.*270_*271insG, NR_027014.1:n.1172_1173insG, XM_047426782.1:c.*270_*271insG, NM_001145439.1:c.*409_*410insG

            6.

            rs1485924705 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:3826188 (GRCh38)
              11:3847418 (GRCh37)
              Canonical SPDI:
              NC_000011.10:3826187:T:C
              Gene:
              PGAP2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.3826188T>C, NC_000011.9:g.3847418T>C, NG_051812.1:g.33465T>C, NR_027017.4:n.2039T>C, NR_027017.3:n.2118T>C, NR_027017.2:n.1978T>C, NM_014489.4:c.*730T>C, NM_014489.3:c.*730T>C, NR_027016.3:n.1422T>C, NR_027016.2:n.1446T>C, NR_144428.2:n.1954T>C, NR_144428.1:n.1978T>C, NM_001346401.2:c.*869T>C, NM_001346401.1:c.*869T>C, NM_001346399.2:c.*869T>C, NM_001346399.1:c.*869T>C, NM_001346397.2:c.*730T>C, NM_001346397.1:c.*730T>C, NR_144429.2:n.1706T>C, NR_144429.1:n.1730T>C, NM_001346402.2:c.*730T>C, NM_001346402.1:c.*730T>C, NR_104271.2:n.1685T>C, NR_104271.1:n.1764T>C, NM_001145438.2:c.*730T>C, NR_027018.2:n.1643T>C, NM_001346398.2:c.*730T>C, NM_001346398.1:c.*730T>C, NM_001256240.2:c.*730T>C, NM_001256240.1:c.*730T>C, NM_001346400.2:c.*730T>C, NM_001346400.1:c.*730T>C, NM_001256239.2:c.*730T>C, NM_001256239.1:c.*730T>C, NR_045929.2:n.1538T>C, NR_045929.1:n.1562T>C, NR_045927.2:n.1516T>C, NR_045927.1:n.1595T>C, NR_144427.2:n.1510T>C, NR_144427.1:n.1589T>C, NR_045923.2:n.1437T>C, NR_045923.1:n.1516T>C, NR_104270.2:n.1425T>C, NR_104270.1:n.1504T>C, NR_104272.2:n.1410T>C, NR_104272.1:n.1434T>C, NR_045926.2:n.1359T>C, NR_045926.1:n.1438T>C, NR_045925.2:n.1347T>C, NR_045925.1:n.1426T>C, NR_144430.2:n.1169T>C, NR_144430.1:n.1193T>C, NM_001256236.1:c.*730T>C, NM_001346403.1:c.*869T>C, NM_001256237.1:c.*869T>C, NM_001283038.1:c.*730T>C, NM_001346404.1:c.*869T>C, NM_001256238.1:c.*869T>C, NM_001283039.1:c.*869T>C, NM_001256235.1:c.*730T>C, NM_001346405.1:c.*730T>C, NM_001283040.1:c.*869T>C, XM_006718181.4:c.*730T>C, XM_006718181.3:c.*730T>C, XM_006718181.2:c.*730T>C, XM_006718181.1:c.*730T>C, XM_011519998.3:c.*730T>C, XM_011519998.2:c.*730T>C, XM_011519998.1:c.*730T>C, XM_011520004.3:c.*730T>C, XM_011520004.2:c.*730T>C, XM_011520004.1:c.*730T>C, XM_011519990.3:c.*730T>C, XM_011519990.2:c.*730T>C, XM_011519990.1:c.*730T>C, XM_011519991.3:c.*730T>C, XM_011519991.2:c.*730T>C, XM_011519991.1:c.*730T>C, XM_006718185.3:c.*730T>C, XM_006718185.2:c.*730T>C, XM_006718185.1:c.*730T>C, XM_011519992.2:c.*730T>C, XM_011519992.1:c.*730T>C, XM_011519996.2:c.*730T>C, XM_011519996.1:c.*730T>C, XM_011519999.2:c.*730T>C, XM_011519999.1:c.*730T>C, XM_024448444.2:c.*730T>C, XM_024448444.1:c.*730T>C, XM_024448443.2:c.*730T>C, XM_024448443.1:c.*730T>C, XM_011520002.2:c.*730T>C, XM_011520002.1:c.*730T>C, XM_047426778.1:c.*730T>C, XM_047426777.1:c.*730T>C, XM_047426780.1:c.*730T>C, NR_027015.1:n.1791T>C, XM_047426781.1:c.*730T>C, XM_047426786.1:c.*730T>C, XM_047426779.1:c.*730T>C, XM_047426783.1:c.*730T>C, XM_047426788.1:c.*730T>C, XM_047426787.1:c.*730T>C, NR_027014.1:n.1632T>C, XM_047426782.1:c.*730T>C, NM_001145439.1:c.*869T>C

              7.

              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

                8.

                rs1484317084 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  11:3826312 (GRCh38)
                  11:3847542 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:3826311:C:
                  Gene:
                  PGAP2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  -=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000011.10:g.3826312del, NC_000011.9:g.3847542del, NG_051812.1:g.33589del, NR_027017.4:n.2163del, NR_027017.3:n.2242del, NR_027017.2:n.2102del, NM_014489.4:c.*854del, NM_014489.3:c.*854del, NR_027016.3:n.1546del, NR_027016.2:n.1570del, NR_144428.2:n.2078del, NR_144428.1:n.2102del, NM_001346401.2:c.*993del, NM_001346401.1:c.*993del, NM_001346399.2:c.*993del, NM_001346399.1:c.*993del, NM_001346397.2:c.*854del, NM_001346397.1:c.*854del, NR_144429.2:n.1830del, NR_144429.1:n.1854del, NM_001346402.2:c.*854del, NM_001346402.1:c.*854del, NR_104271.2:n.1809del, NR_104271.1:n.1888del, NM_001145438.2:c.*854del, NR_027018.2:n.1767del, NM_001346398.2:c.*854del, NM_001346398.1:c.*854del, NM_001256240.2:c.*854del, NM_001256240.1:c.*854del, NM_001346400.2:c.*854del, NM_001346400.1:c.*854del, NM_001256239.2:c.*854del, NM_001256239.1:c.*854del, NR_045929.2:n.1662del, NR_045929.1:n.1686del, NR_045927.2:n.1640del, NR_045927.1:n.1719del, NR_144427.2:n.1634del, NR_144427.1:n.1713del, NR_045923.2:n.1561del, NR_045923.1:n.1640del, NR_104270.2:n.1549del, NR_104270.1:n.1628del, NR_104272.2:n.1534del, NR_104272.1:n.1558del, NR_045926.2:n.1483del, NR_045926.1:n.1562del, NR_045925.2:n.1471del, NR_045925.1:n.1550del, NR_144430.2:n.1293del, NR_144430.1:n.1317del, NM_001256236.1:c.*854del, NM_001346403.1:c.*993del, NM_001256237.1:c.*993del, NM_001283038.1:c.*854del, NM_001346404.1:c.*993del, NM_001256238.1:c.*993del, NM_001283039.1:c.*993del, NM_001256235.1:c.*854del, NM_001346405.1:c.*854del, NM_001283040.1:c.*993del, XM_006718181.4:c.*854del, XM_006718181.3:c.*854del, XM_006718181.2:c.*854del, XM_006718181.1:c.*854del, XM_011519998.3:c.*854del, XM_011519998.2:c.*854del, XM_011519998.1:c.*854del, XM_011520004.3:c.*854del, XM_011520004.2:c.*854del, XM_011520004.1:c.*854del, XM_011519990.3:c.*854del, XM_011519990.2:c.*854del, XM_011519990.1:c.*854del, XM_011519991.3:c.*854del, XM_011519991.2:c.*854del, XM_011519991.1:c.*854del, XM_006718185.3:c.*854del, XM_006718185.2:c.*854del, XM_006718185.1:c.*854del, XM_011519992.2:c.*854del, XM_011519992.1:c.*854del, XM_011519996.2:c.*854del, XM_011519996.1:c.*854del, XM_011519999.2:c.*854del, XM_011519999.1:c.*854del, XM_024448444.2:c.*854del, XM_024448444.1:c.*854del, XM_024448443.2:c.*854del, XM_024448443.1:c.*854del, XM_011520002.2:c.*854del, XM_011520002.1:c.*854del, XM_047426778.1:c.*854del, XM_047426777.1:c.*854del, XM_047426780.1:c.*854del, NR_027015.1:n.1915del, XM_047426781.1:c.*854del, XM_047426786.1:c.*854del, XM_047426779.1:c.*854del, XM_047426783.1:c.*854del, XM_047426788.1:c.*854del, XM_047426787.1:c.*854del, NR_027014.1:n.1756del, XM_047426782.1:c.*854del, NM_001145439.1:c.*993del

                  9.

                  rs1482331015 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:3825835 (GRCh38)
                    11:3847065 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:3825834:C:T
                    Gene:
                    PGAP2 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000011.10:g.3825835C>T, NC_000011.9:g.3847065C>T, NG_051812.1:g.33112C>T, NR_027017.4:n.1686C>T, NR_027017.3:n.1765C>T, NR_027017.2:n.1625C>T, NM_014489.4:c.*377C>T, NM_014489.3:c.*377C>T, NR_027016.3:n.1069C>T, NR_027016.2:n.1093C>T, NR_144428.2:n.1601C>T, NR_144428.1:n.1625C>T, NM_001346401.2:c.*516C>T, NM_001346401.1:c.*516C>T, NM_001346399.2:c.*516C>T, NM_001346399.1:c.*516C>T, NM_001346397.2:c.*377C>T, NM_001346397.1:c.*377C>T, NR_144429.2:n.1353C>T, NR_144429.1:n.1377C>T, NM_001346402.2:c.*377C>T, NM_001346402.1:c.*377C>T, NR_104271.2:n.1332C>T, NR_104271.1:n.1411C>T, NM_001145438.2:c.*377C>T, NR_027018.2:n.1290C>T, NM_001346398.2:c.*377C>T, NM_001346398.1:c.*377C>T, NM_001256240.2:c.*377C>T, NM_001256240.1:c.*377C>T, NM_001346400.2:c.*377C>T, NM_001346400.1:c.*377C>T, NM_001256239.2:c.*377C>T, NM_001256239.1:c.*377C>T, NR_045929.2:n.1185C>T, NR_045929.1:n.1209C>T, NR_045927.2:n.1163C>T, NR_045927.1:n.1242C>T, NR_144427.2:n.1157C>T, NR_144427.1:n.1236C>T, NR_045923.2:n.1084C>T, NR_045923.1:n.1163C>T, NR_104270.2:n.1072C>T, NR_104270.1:n.1151C>T, NR_104272.2:n.1057C>T, NR_104272.1:n.1081C>T, NR_045926.2:n.1006C>T, NR_045926.1:n.1085C>T, NR_045925.2:n.994C>T, NR_045925.1:n.1073C>T, NR_144430.2:n.816C>T, NR_144430.1:n.840C>T, NM_001256236.1:c.*377C>T, NM_001346403.1:c.*516C>T, NM_001256237.1:c.*516C>T, NM_001283038.1:c.*377C>T, NM_001346404.1:c.*516C>T, NM_001256238.1:c.*516C>T, NM_001283039.1:c.*516C>T, NM_001256235.1:c.*377C>T, NM_001346405.1:c.*377C>T, NM_001283040.1:c.*516C>T, XM_006718181.4:c.*377C>T, XM_006718181.3:c.*377C>T, XM_006718181.2:c.*377C>T, XM_006718181.1:c.*377C>T, XM_011519998.3:c.*377C>T, XM_011519998.2:c.*377C>T, XM_011519998.1:c.*377C>T, XM_011520004.3:c.*377C>T, XM_011520004.2:c.*377C>T, XM_011520004.1:c.*377C>T, XM_011519990.3:c.*377C>T, XM_011519990.2:c.*377C>T, XM_011519990.1:c.*377C>T, XM_011519991.3:c.*377C>T, XM_011519991.2:c.*377C>T, XM_011519991.1:c.*377C>T, XM_006718185.3:c.*377C>T, XM_006718185.2:c.*377C>T, XM_006718185.1:c.*377C>T, XM_011519992.2:c.*377C>T, XM_011519992.1:c.*377C>T, XM_011519996.2:c.*377C>T, XM_011519996.1:c.*377C>T, XM_011519999.2:c.*377C>T, XM_011519999.1:c.*377C>T, XM_024448444.2:c.*377C>T, XM_024448444.1:c.*377C>T, XM_024448443.2:c.*377C>T, XM_024448443.1:c.*377C>T, XM_011520002.2:c.*377C>T, XM_011520002.1:c.*377C>T, XM_047426778.1:c.*377C>T, XM_047426777.1:c.*377C>T, XM_047426780.1:c.*377C>T, NR_027015.1:n.1438C>T, XM_047426781.1:c.*377C>T, XM_047426786.1:c.*377C>T, XM_047426779.1:c.*377C>T, XM_047426783.1:c.*377C>T, XM_047426788.1:c.*377C>T, XM_047426787.1:c.*377C>T, NR_027014.1:n.1279C>T, XM_047426782.1:c.*377C>T, NM_001145439.1:c.*516C>T

                    10.

                    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

                      11.

                      rs1478738991 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        11:3823716 (GRCh38)
                        11:3844946 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:3823715:T:G
                        Gene:
                        PGAP2 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1478578883 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:3823673 (GRCh38)
                          11:3844903 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:3823672:G:A
                          Gene:
                          PGAP2 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000006/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1478499648 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            11:3826160 (GRCh38)
                            11:3847390 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:3826159:T:A,NC_000011.10:3826159:T:C
                            Gene:
                            PGAP2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.3826160T>A, NC_000011.10:g.3826160T>C, NC_000011.9:g.3847390T>A, NC_000011.9:g.3847390T>C, NG_051812.1:g.33437T>A, NG_051812.1:g.33437T>C, NR_027017.4:n.2011T>A, NR_027017.4:n.2011T>C, NR_027017.3:n.2090T>A, NR_027017.3:n.2090T>C, NR_027017.2:n.1950T>A, NR_027017.2:n.1950T>C, NM_014489.4:c.*702T>A, NM_014489.4:c.*702T>C, NM_014489.3:c.*702T>A, NM_014489.3:c.*702T>C, NR_027016.3:n.1394T>A, NR_027016.3:n.1394T>C, NR_027016.2:n.1418T>A, NR_027016.2:n.1418T>C, NR_144428.2:n.1926T>A, NR_144428.2:n.1926T>C, NR_144428.1:n.1950T>A, NR_144428.1:n.1950T>C, NM_001346401.2:c.*841T>A, NM_001346401.2:c.*841T>C, NM_001346401.1:c.*841T>A, NM_001346401.1:c.*841T>C, NM_001346399.2:c.*841T>A, NM_001346399.2:c.*841T>C, NM_001346399.1:c.*841T>A, NM_001346399.1:c.*841T>C, NM_001346397.2:c.*702T>A, NM_001346397.2:c.*702T>C, NM_001346397.1:c.*702T>A, NM_001346397.1:c.*702T>C, NR_144429.2:n.1678T>A, NR_144429.2:n.1678T>C, NR_144429.1:n.1702T>A, NR_144429.1:n.1702T>C, NM_001346402.2:c.*702T>A, NM_001346402.2:c.*702T>C, NM_001346402.1:c.*702T>A, NM_001346402.1:c.*702T>C, NR_104271.2:n.1657T>A, NR_104271.2:n.1657T>C, NR_104271.1:n.1736T>A, NR_104271.1:n.1736T>C, NM_001145438.2:c.*702T>A, NM_001145438.2:c.*702T>C, NR_027018.2:n.1615T>A, NR_027018.2:n.1615T>C, NM_001346398.2:c.*702T>A, NM_001346398.2:c.*702T>C, NM_001346398.1:c.*702T>A, NM_001346398.1:c.*702T>C, NM_001256240.2:c.*702T>A, NM_001256240.2:c.*702T>C, NM_001256240.1:c.*702T>A, NM_001256240.1:c.*702T>C, NM_001346400.2:c.*702T>A, NM_001346400.2:c.*702T>C, NM_001346400.1:c.*702T>A, NM_001346400.1:c.*702T>C, NM_001256239.2:c.*702T>A, NM_001256239.2:c.*702T>C, NM_001256239.1:c.*702T>A, NM_001256239.1:c.*702T>C, NR_045929.2:n.1510T>A, NR_045929.2:n.1510T>C, NR_045929.1:n.1534T>A, NR_045929.1:n.1534T>C, NR_045927.2:n.1488T>A, NR_045927.2:n.1488T>C, NR_045927.1:n.1567T>A, NR_045927.1:n.1567T>C, NR_144427.2:n.1482T>A, NR_144427.2:n.1482T>C, NR_144427.1:n.1561T>A, NR_144427.1:n.1561T>C, NR_045923.2:n.1409T>A, NR_045923.2:n.1409T>C, NR_045923.1:n.1488T>A, NR_045923.1:n.1488T>C, NR_104270.2:n.1397T>A, NR_104270.2:n.1397T>C, NR_104270.1:n.1476T>A, NR_104270.1:n.1476T>C, NR_104272.2:n.1382T>A, NR_104272.2:n.1382T>C, NR_104272.1:n.1406T>A, NR_104272.1:n.1406T>C, NR_045926.2:n.1331T>A, NR_045926.2:n.1331T>C, NR_045926.1:n.1410T>A, NR_045926.1:n.1410T>C, NR_045925.2:n.1319T>A, NR_045925.2:n.1319T>C, NR_045925.1:n.1398T>A, NR_045925.1:n.1398T>C, NR_144430.2:n.1141T>A, NR_144430.2:n.1141T>C, NR_144430.1:n.1165T>A, NR_144430.1:n.1165T>C, NM_001256236.1:c.*702T>A, NM_001256236.1:c.*702T>C, NM_001346403.1:c.*841T>A, NM_001346403.1:c.*841T>C, NM_001256237.1:c.*841T>A, NM_001256237.1:c.*841T>C, NM_001283038.1:c.*702T>A, NM_001283038.1:c.*702T>C, NM_001346404.1:c.*841T>A, NM_001346404.1:c.*841T>C, NM_001256238.1:c.*841T>A, NM_001256238.1:c.*841T>C, NM_001283039.1:c.*841T>A, NM_001283039.1:c.*841T>C, NM_001256235.1:c.*702T>A, NM_001256235.1:c.*702T>C, NM_001346405.1:c.*702T>A, NM_001346405.1:c.*702T>C, NM_001283040.1:c.*841T>A, NM_001283040.1:c.*841T>C, XM_006718181.4:c.*702T>A, XM_006718181.4:c.*702T>C, XM_006718181.3:c.*702T>A, XM_006718181.3:c.*702T>C, XM_006718181.2:c.*702T>A, XM_006718181.2:c.*702T>C, XM_006718181.1:c.*702T>A, XM_006718181.1:c.*702T>C, XM_011519998.3:c.*702T>A, XM_011519998.3:c.*702T>C, XM_011519998.2:c.*702T>A, XM_011519998.2:c.*702T>C, XM_011519998.1:c.*702T>A, XM_011519998.1:c.*702T>C, XM_011520004.3:c.*702T>A, XM_011520004.3:c.*702T>C, XM_011520004.2:c.*702T>A, XM_011520004.2:c.*702T>C, XM_011520004.1:c.*702T>A, XM_011520004.1:c.*702T>C, XM_011519990.3:c.*702T>A, XM_011519990.3:c.*702T>C, XM_011519990.2:c.*702T>A, XM_011519990.2:c.*702T>C, XM_011519990.1:c.*702T>A, XM_011519990.1:c.*702T>C, XM_011519991.3:c.*702T>A, XM_011519991.3:c.*702T>C, XM_011519991.2:c.*702T>A, XM_011519991.2:c.*702T>C, XM_011519991.1:c.*702T>A, XM_011519991.1:c.*702T>C, XM_006718185.3:c.*702T>A, XM_006718185.3:c.*702T>C, XM_006718185.2:c.*702T>A, XM_006718185.2:c.*702T>C, XM_006718185.1:c.*702T>A, XM_006718185.1:c.*702T>C, XM_011519992.2:c.*702T>A, XM_011519992.2:c.*702T>C, XM_011519992.1:c.*702T>A, XM_011519992.1:c.*702T>C, XM_011519996.2:c.*702T>A, XM_011519996.2:c.*702T>C, XM_011519996.1:c.*702T>A, XM_011519996.1:c.*702T>C, XM_011519999.2:c.*702T>A, XM_011519999.2:c.*702T>C, XM_011519999.1:c.*702T>A, XM_011519999.1:c.*702T>C, XM_024448444.2:c.*702T>A, XM_024448444.2:c.*702T>C, XM_024448444.1:c.*702T>A, XM_024448444.1:c.*702T>C, XM_024448443.2:c.*702T>A, XM_024448443.2:c.*702T>C, XM_024448443.1:c.*702T>A, XM_024448443.1:c.*702T>C, XM_011520002.2:c.*702T>A, XM_011520002.2:c.*702T>C, XM_011520002.1:c.*702T>A, XM_011520002.1:c.*702T>C, XM_047426778.1:c.*702T>A, XM_047426778.1:c.*702T>C, XM_047426777.1:c.*702T>A, XM_047426777.1:c.*702T>C, XM_047426780.1:c.*702T>A, XM_047426780.1:c.*702T>C, NR_027015.1:n.1763T>A, NR_027015.1:n.1763T>C, XM_047426781.1:c.*702T>A, XM_047426781.1:c.*702T>C, XM_047426786.1:c.*702T>A, XM_047426786.1:c.*702T>C, XM_047426779.1:c.*702T>A, XM_047426779.1:c.*702T>C, XM_047426783.1:c.*702T>A, XM_047426783.1:c.*702T>C, XM_047426788.1:c.*702T>A, XM_047426788.1:c.*702T>C, XM_047426787.1:c.*702T>A, XM_047426787.1:c.*702T>C, NR_027014.1:n.1604T>A, NR_027014.1:n.1604T>C, XM_047426782.1:c.*702T>A, XM_047426782.1:c.*702T>C, NM_001145439.1:c.*841T>A, NM_001145439.1:c.*841T>C

                            14.

                            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

                              15.

                              rs1477026657 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                11:3825661 (GRCh38)
                                11:3846891 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:3825660:C:
                                Gene:
                                PGAP2 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000011/3 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                -=0.000546/1 (Korea1K)
                                -=0.003574/60 (TOMMO)
                                HGVS:
                                NC_000011.10:g.3825661del, NC_000011.9:g.3846891del, NG_051812.1:g.32938del, NR_027017.4:n.1512del, NR_027017.3:n.1591del, NR_027017.2:n.1451del, NM_014489.4:c.*203del, NM_014489.3:c.*203del, NR_027016.3:n.895del, NR_027016.2:n.919del, NR_144428.2:n.1427del, NR_144428.1:n.1451del, NM_001346401.2:c.*342del, NM_001346401.1:c.*342del, NM_001346399.2:c.*342del, NM_001346399.1:c.*342del, NM_001346397.2:c.*203del, NM_001346397.1:c.*203del, NR_144429.2:n.1179del, NR_144429.1:n.1203del, NM_001346402.2:c.*203del, NM_001346402.1:c.*203del, NR_104271.2:n.1158del, NR_104271.1:n.1237del, NM_001145438.2:c.*203del, NR_027018.2:n.1116del, NM_001346398.2:c.*203del, NM_001346398.1:c.*203del, NM_001256240.2:c.*203del, NM_001256240.1:c.*203del, NM_001346400.2:c.*203del, NM_001346400.1:c.*203del, NM_001256239.2:c.*203del, NM_001256239.1:c.*203del, NR_045929.2:n.1011del, NR_045929.1:n.1035del, NR_045927.2:n.989del, NR_045927.1:n.1068del, NR_144427.2:n.983del, NR_144427.1:n.1062del, NR_045923.2:n.910del, NR_045923.1:n.989del, NR_104270.2:n.898del, NR_104270.1:n.977del, NR_104272.2:n.883del, NR_104272.1:n.907del, NR_045926.2:n.832del, NR_045926.1:n.911del, NR_045925.2:n.820del, NR_045925.1:n.899del, NR_144430.2:n.642del, NR_144430.1:n.666del, NM_001256236.1:c.*203del, NM_001346403.1:c.*342del, NM_001256237.1:c.*342del, NM_001283038.1:c.*203del, NM_001346404.1:c.*342del, NM_001256238.1:c.*342del, NM_001283039.1:c.*342del, NM_001256235.1:c.*203del, NM_001346405.1:c.*203del, NM_001283040.1:c.*342del, XM_006718181.4:c.*203del, XM_006718181.3:c.*203del, XM_006718181.2:c.*203del, XM_006718181.1:c.*203del, XM_011519998.3:c.*203del, XM_011519998.2:c.*203del, XM_011519998.1:c.*203del, XM_011520004.3:c.*203del, XM_011520004.2:c.*203del, XM_011520004.1:c.*203del, XM_011519990.3:c.*203del, XM_011519990.2:c.*203del, XM_011519990.1:c.*203del, XM_011519991.3:c.*203del, XM_011519991.2:c.*203del, XM_011519991.1:c.*203del, XM_006718185.3:c.*203del, XM_006718185.2:c.*203del, XM_006718185.1:c.*203del, XM_011519992.2:c.*203del, XM_011519992.1:c.*203del, XM_011519996.2:c.*203del, XM_011519996.1:c.*203del, XM_011519999.2:c.*203del, XM_011519999.1:c.*203del, XM_024448444.2:c.*203del, XM_024448444.1:c.*203del, XM_024448443.2:c.*203del, XM_024448443.1:c.*203del, XM_011520002.2:c.*203del, XM_011520002.1:c.*203del, XM_047426778.1:c.*203del, XM_047426777.1:c.*203del, XM_047426780.1:c.*203del, NR_027015.1:n.1264del, XM_047426781.1:c.*203del, XM_047426786.1:c.*203del, XM_047426779.1:c.*203del, XM_047426783.1:c.*203del, XM_047426788.1:c.*203del, XM_047426787.1:c.*203del, NR_027014.1:n.1105del, XM_047426782.1:c.*203del, NM_001145439.1:c.*342del

                                16.

                                rs1476757381 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:3825724 (GRCh38)
                                  11:3846954 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:3825723:A:G
                                  Gene:
                                  PGAP2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.00011/4 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.3825724A>G, NC_000011.9:g.3846954A>G, NG_051812.1:g.33001A>G, NR_027017.4:n.1575A>G, NR_027017.3:n.1654A>G, NR_027017.2:n.1514A>G, NM_014489.4:c.*266A>G, NM_014489.3:c.*266A>G, NR_027016.3:n.958A>G, NR_027016.2:n.982A>G, NR_144428.2:n.1490A>G, NR_144428.1:n.1514A>G, NM_001346401.2:c.*405A>G, NM_001346401.1:c.*405A>G, NM_001346399.2:c.*405A>G, NM_001346399.1:c.*405A>G, NM_001346397.2:c.*266A>G, NM_001346397.1:c.*266A>G, NR_144429.2:n.1242A>G, NR_144429.1:n.1266A>G, NM_001346402.2:c.*266A>G, NM_001346402.1:c.*266A>G, NR_104271.2:n.1221A>G, NR_104271.1:n.1300A>G, NM_001145438.2:c.*266A>G, NR_027018.2:n.1179A>G, NM_001346398.2:c.*266A>G, NM_001346398.1:c.*266A>G, NM_001256240.2:c.*266A>G, NM_001256240.1:c.*266A>G, NM_001346400.2:c.*266A>G, NM_001346400.1:c.*266A>G, NM_001256239.2:c.*266A>G, NM_001256239.1:c.*266A>G, NR_045929.2:n.1074A>G, NR_045929.1:n.1098A>G, NR_045927.2:n.1052A>G, NR_045927.1:n.1131A>G, NR_144427.2:n.1046A>G, NR_144427.1:n.1125A>G, NR_045923.2:n.973A>G, NR_045923.1:n.1052A>G, NR_104270.2:n.961A>G, NR_104270.1:n.1040A>G, NR_104272.2:n.946A>G, NR_104272.1:n.970A>G, NR_045926.2:n.895A>G, NR_045926.1:n.974A>G, NR_045925.2:n.883A>G, NR_045925.1:n.962A>G, NR_144430.2:n.705A>G, NR_144430.1:n.729A>G, NM_001256236.1:c.*266A>G, NM_001346403.1:c.*405A>G, NM_001256237.1:c.*405A>G, NM_001283038.1:c.*266A>G, NM_001346404.1:c.*405A>G, NM_001256238.1:c.*405A>G, NM_001283039.1:c.*405A>G, NM_001256235.1:c.*266A>G, NM_001346405.1:c.*266A>G, NM_001283040.1:c.*405A>G, XM_006718181.4:c.*266A>G, XM_006718181.3:c.*266A>G, XM_006718181.2:c.*266A>G, XM_006718181.1:c.*266A>G, XM_011519998.3:c.*266A>G, XM_011519998.2:c.*266A>G, XM_011519998.1:c.*266A>G, XM_011520004.3:c.*266A>G, XM_011520004.2:c.*266A>G, XM_011520004.1:c.*266A>G, XM_011519990.3:c.*266A>G, XM_011519990.2:c.*266A>G, XM_011519990.1:c.*266A>G, XM_011519991.3:c.*266A>G, XM_011519991.2:c.*266A>G, XM_011519991.1:c.*266A>G, XM_006718185.3:c.*266A>G, XM_006718185.2:c.*266A>G, XM_006718185.1:c.*266A>G, XM_011519992.2:c.*266A>G, XM_011519992.1:c.*266A>G, XM_011519996.2:c.*266A>G, XM_011519996.1:c.*266A>G, XM_011519999.2:c.*266A>G, XM_011519999.1:c.*266A>G, XM_024448444.2:c.*266A>G, XM_024448444.1:c.*266A>G, XM_024448443.2:c.*266A>G, XM_024448443.1:c.*266A>G, XM_011520002.2:c.*266A>G, XM_011520002.1:c.*266A>G, XM_047426778.1:c.*266A>G, XM_047426777.1:c.*266A>G, XM_047426780.1:c.*266A>G, NR_027015.1:n.1327A>G, XM_047426781.1:c.*266A>G, XM_047426786.1:c.*266A>G, XM_047426779.1:c.*266A>G, XM_047426783.1:c.*266A>G, XM_047426788.1:c.*266A>G, XM_047426787.1:c.*266A>G, NR_027014.1:n.1168A>G, XM_047426782.1:c.*266A>G, NM_001145439.1:c.*405A>G

                                  17.

                                  rs1475266265 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:3826283 (GRCh38)
                                    11:3847513 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:3826282:A:G
                                    Gene:
                                    PGAP2 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000106/3 (TOMMO)
                                    G=0.000342/1 (KOREAN)
                                    HGVS:
                                    NC_000011.10:g.3826283A>G, NC_000011.9:g.3847513A>G, NG_051812.1:g.33560A>G, NR_027017.4:n.2134A>G, NR_027017.3:n.2213A>G, NR_027017.2:n.2073A>G, NM_014489.4:c.*825A>G, NM_014489.3:c.*825A>G, NR_027016.3:n.1517A>G, NR_027016.2:n.1541A>G, NR_144428.2:n.2049A>G, NR_144428.1:n.2073A>G, NM_001346401.2:c.*964A>G, NM_001346401.1:c.*964A>G, NM_001346399.2:c.*964A>G, NM_001346399.1:c.*964A>G, NM_001346397.2:c.*825A>G, NM_001346397.1:c.*825A>G, NR_144429.2:n.1801A>G, NR_144429.1:n.1825A>G, NM_001346402.2:c.*825A>G, NM_001346402.1:c.*825A>G, NR_104271.2:n.1780A>G, NR_104271.1:n.1859A>G, NM_001145438.2:c.*825A>G, NR_027018.2:n.1738A>G, NM_001346398.2:c.*825A>G, NM_001346398.1:c.*825A>G, NM_001256240.2:c.*825A>G, NM_001256240.1:c.*825A>G, NM_001346400.2:c.*825A>G, NM_001346400.1:c.*825A>G, NM_001256239.2:c.*825A>G, NM_001256239.1:c.*825A>G, NR_045929.2:n.1633A>G, NR_045929.1:n.1657A>G, NR_045927.2:n.1611A>G, NR_045927.1:n.1690A>G, NR_144427.2:n.1605A>G, NR_144427.1:n.1684A>G, NR_045923.2:n.1532A>G, NR_045923.1:n.1611A>G, NR_104270.2:n.1520A>G, NR_104270.1:n.1599A>G, NR_104272.2:n.1505A>G, NR_104272.1:n.1529A>G, NR_045926.2:n.1454A>G, NR_045926.1:n.1533A>G, NR_045925.2:n.1442A>G, NR_045925.1:n.1521A>G, NR_144430.2:n.1264A>G, NR_144430.1:n.1288A>G, NM_001256236.1:c.*825A>G, NM_001346403.1:c.*964A>G, NM_001256237.1:c.*964A>G, NM_001283038.1:c.*825A>G, NM_001346404.1:c.*964A>G, NM_001256238.1:c.*964A>G, NM_001283039.1:c.*964A>G, NM_001256235.1:c.*825A>G, NM_001346405.1:c.*825A>G, NM_001283040.1:c.*964A>G, XM_006718181.4:c.*825A>G, XM_006718181.3:c.*825A>G, XM_006718181.2:c.*825A>G, XM_006718181.1:c.*825A>G, XM_011519998.3:c.*825A>G, XM_011519998.2:c.*825A>G, XM_011519998.1:c.*825A>G, XM_011520004.3:c.*825A>G, XM_011520004.2:c.*825A>G, XM_011520004.1:c.*825A>G, XM_011519990.3:c.*825A>G, XM_011519990.2:c.*825A>G, XM_011519990.1:c.*825A>G, XM_011519991.3:c.*825A>G, XM_011519991.2:c.*825A>G, XM_011519991.1:c.*825A>G, XM_006718185.3:c.*825A>G, XM_006718185.2:c.*825A>G, XM_006718185.1:c.*825A>G, XM_011519992.2:c.*825A>G, XM_011519992.1:c.*825A>G, XM_011519996.2:c.*825A>G, XM_011519996.1:c.*825A>G, XM_011519999.2:c.*825A>G, XM_011519999.1:c.*825A>G, XM_024448444.2:c.*825A>G, XM_024448444.1:c.*825A>G, XM_024448443.2:c.*825A>G, XM_024448443.1:c.*825A>G, XM_011520002.2:c.*825A>G, XM_011520002.1:c.*825A>G, XM_047426778.1:c.*825A>G, XM_047426777.1:c.*825A>G, XM_047426780.1:c.*825A>G, NR_027015.1:n.1886A>G, XM_047426781.1:c.*825A>G, XM_047426786.1:c.*825A>G, XM_047426779.1:c.*825A>G, XM_047426783.1:c.*825A>G, XM_047426788.1:c.*825A>G, XM_047426787.1:c.*825A>G, NR_027014.1:n.1727A>G, XM_047426782.1:c.*825A>G, NM_001145439.1:c.*964A>G

                                    18.

                                    rs1474916416 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      11:3825818 (GRCh38)
                                      11:3847049 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:3825818:T:TT
                                      Gene:
                                      PGAP2 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TT=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.3825819dup, NC_000011.9:g.3847049dup, NG_051812.1:g.33096dup, NR_027017.4:n.1670dup, NR_027017.3:n.1749dup, NR_027017.2:n.1609dup, NM_014489.4:c.*361dup, NM_014489.3:c.*361dup, NR_027016.3:n.1053dup, NR_027016.2:n.1077dup, NR_144428.2:n.1585dup, NR_144428.1:n.1609dup, NM_001346401.2:c.*500dup, NM_001346401.1:c.*500dup, NM_001346399.2:c.*500dup, NM_001346399.1:c.*500dup, NM_001346397.2:c.*361dup, NM_001346397.1:c.*361dup, NR_144429.2:n.1337dup, NR_144429.1:n.1361dup, NM_001346402.2:c.*361dup, NM_001346402.1:c.*361dup, NR_104271.2:n.1316dup, NR_104271.1:n.1395dup, NM_001145438.2:c.*361dup, NR_027018.2:n.1274dup, NM_001346398.2:c.*361dup, NM_001346398.1:c.*361dup, NM_001256240.2:c.*361dup, NM_001256240.1:c.*361dup, NM_001346400.2:c.*361dup, NM_001346400.1:c.*361dup, NM_001256239.2:c.*361dup, NM_001256239.1:c.*361dup, NR_045929.2:n.1169dup, NR_045929.1:n.1193dup, NR_045927.2:n.1147dup, NR_045927.1:n.1226dup, NR_144427.2:n.1141dup, NR_144427.1:n.1220dup, NR_045923.2:n.1068dup, NR_045923.1:n.1147dup, NR_104270.2:n.1056dup, NR_104270.1:n.1135dup, NR_104272.2:n.1041dup, NR_104272.1:n.1065dup, NR_045926.2:n.990dup, NR_045926.1:n.1069dup, NR_045925.2:n.978dup, NR_045925.1:n.1057dup, NR_144430.2:n.800dup, NR_144430.1:n.824dup, NM_001256236.1:c.*361dup, NM_001346403.1:c.*500dup, NM_001256237.1:c.*500dup, NM_001283038.1:c.*361dup, NM_001346404.1:c.*500dup, NM_001256238.1:c.*500dup, NM_001283039.1:c.*500dup, NM_001256235.1:c.*361dup, NM_001346405.1:c.*361dup, NM_001283040.1:c.*500dup, XM_006718181.4:c.*361dup, XM_006718181.3:c.*361dup, XM_006718181.2:c.*361dup, XM_006718181.1:c.*361dup, XM_011519998.3:c.*361dup, XM_011519998.2:c.*361dup, XM_011519998.1:c.*361dup, XM_011520004.3:c.*361dup, XM_011520004.2:c.*361dup, XM_011520004.1:c.*361dup, XM_011519990.3:c.*361dup, XM_011519990.2:c.*361dup, XM_011519990.1:c.*361dup, XM_011519991.3:c.*361dup, XM_011519991.2:c.*361dup, XM_011519991.1:c.*361dup, XM_006718185.3:c.*361dup, XM_006718185.2:c.*361dup, XM_006718185.1:c.*361dup, XM_011519992.2:c.*361dup, XM_011519992.1:c.*361dup, XM_011519996.2:c.*361dup, XM_011519996.1:c.*361dup, XM_011519999.2:c.*361dup, XM_011519999.1:c.*361dup, XM_024448444.2:c.*361dup, XM_024448444.1:c.*361dup, XM_024448443.2:c.*361dup, XM_024448443.1:c.*361dup, XM_011520002.2:c.*361dup, XM_011520002.1:c.*361dup, XM_047426778.1:c.*361dup, XM_047426777.1:c.*361dup, XM_047426780.1:c.*361dup, NR_027015.1:n.1422dup, XM_047426781.1:c.*361dup, XM_047426786.1:c.*361dup, XM_047426779.1:c.*361dup, XM_047426783.1:c.*361dup, XM_047426788.1:c.*361dup, XM_047426787.1:c.*361dup, NR_027014.1:n.1263dup, XM_047426782.1:c.*361dup, NM_001145439.1:c.*500dup

                                      19.

                                      rs1472255313 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:3825499 (GRCh38)
                                        11:3846729 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:3825498:G:A
                                        Gene:
                                        PGAP2 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000094/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000009/2 (GnomAD_exomes)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.3825499G>A, NC_000011.9:g.3846729G>A, NG_051812.1:g.32776G>A, NR_027017.4:n.1350G>A, NR_027017.3:n.1429G>A, NR_027017.2:n.1289G>A, NM_014489.4:c.*41G>A, NM_014489.3:c.*41G>A, NR_027016.3:n.733G>A, NR_027016.2:n.757G>A, NR_144428.2:n.1265G>A, NR_144428.1:n.1289G>A, NM_001346401.2:c.*180G>A, NM_001346401.1:c.*180G>A, NM_001346399.2:c.*180G>A, NM_001346399.1:c.*180G>A, NM_001346397.2:c.*41G>A, NM_001346397.1:c.*41G>A, NR_144429.2:n.1017G>A, NR_144429.1:n.1041G>A, NM_001346402.2:c.*41G>A, NM_001346402.1:c.*41G>A, NR_104271.2:n.996G>A, NR_104271.1:n.1075G>A, NM_001145438.2:c.*41G>A, NR_027018.2:n.954G>A, NM_001346398.2:c.*41G>A, NM_001346398.1:c.*41G>A, NM_001256240.2:c.*41G>A, NM_001256240.1:c.*41G>A, NM_001346400.2:c.*41G>A, NM_001346400.1:c.*41G>A, NM_001256239.2:c.*41G>A, NM_001256239.1:c.*41G>A, NR_045929.2:n.849G>A, NR_045929.1:n.873G>A, NR_045927.2:n.827G>A, NR_045927.1:n.906G>A, NR_144427.2:n.821G>A, NR_144427.1:n.900G>A, NR_045923.2:n.748G>A, NR_045923.1:n.827G>A, NR_104270.2:n.736G>A, NR_104270.1:n.815G>A, NR_104272.2:n.721G>A, NR_104272.1:n.745G>A, NR_045926.2:n.670G>A, NR_045926.1:n.749G>A, NR_045925.2:n.658G>A, NR_045925.1:n.737G>A, NR_144430.2:n.480G>A, NR_144430.1:n.504G>A, NM_001256236.1:c.*41G>A, NM_001346403.1:c.*180G>A, NM_001256237.1:c.*180G>A, NM_001283038.1:c.*41G>A, NM_001346404.1:c.*180G>A, NM_001256238.1:c.*180G>A, NM_001283039.1:c.*180G>A, NM_001256235.1:c.*41G>A, NM_001346405.1:c.*41G>A, NM_001283040.1:c.*180G>A, XM_006718181.4:c.*41G>A, XM_006718181.3:c.*41G>A, XM_006718181.2:c.*41G>A, XM_006718181.1:c.*41G>A, XM_011519998.3:c.*41G>A, XM_011519998.2:c.*41G>A, XM_011519998.1:c.*41G>A, XM_011520004.3:c.*41G>A, XM_011520004.2:c.*41G>A, XM_011520004.1:c.*41G>A, XM_011519990.3:c.*41G>A, XM_011519990.2:c.*41G>A, XM_011519990.1:c.*41G>A, XM_011519991.3:c.*41G>A, XM_011519991.2:c.*41G>A, XM_011519991.1:c.*41G>A, XM_006718185.3:c.*41G>A, XM_006718185.2:c.*41G>A, XM_006718185.1:c.*41G>A, XM_011519992.2:c.*41G>A, XM_011519992.1:c.*41G>A, XM_011519996.2:c.*41G>A, XM_011519996.1:c.*41G>A, XM_011519999.2:c.*41G>A, XM_011519999.1:c.*41G>A, XM_024448444.2:c.*41G>A, XM_024448444.1:c.*41G>A, XM_024448443.2:c.*41G>A, XM_024448443.1:c.*41G>A, XM_011520002.2:c.*41G>A, XM_011520002.1:c.*41G>A, XM_047426778.1:c.*41G>A, XM_047426777.1:c.*41G>A, XM_047426780.1:c.*41G>A, NR_027015.1:n.1102G>A, XM_047426781.1:c.*41G>A, XM_047426786.1:c.*41G>A, XM_047426779.1:c.*41G>A, XM_047426783.1:c.*41G>A, XM_047426788.1:c.*41G>A, XM_047426787.1:c.*41G>A, NR_027014.1:n.943G>A, XM_047426782.1:c.*41G>A, NM_001145439.1:c.*180G>A

                                        20.

                                        rs1469654720 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:3825676 (GRCh38)
                                          11:3846906 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:3825675:A:G
                                          Gene:
                                          PGAP2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.3825676A>G, NC_000011.9:g.3846906A>G, NG_051812.1:g.32953A>G, NR_027017.4:n.1527A>G, NR_027017.3:n.1606A>G, NR_027017.2:n.1466A>G, NM_014489.4:c.*218A>G, NM_014489.3:c.*218A>G, NR_027016.3:n.910A>G, NR_027016.2:n.934A>G, NR_144428.2:n.1442A>G, NR_144428.1:n.1466A>G, NM_001346401.2:c.*357A>G, NM_001346401.1:c.*357A>G, NM_001346399.2:c.*357A>G, NM_001346399.1:c.*357A>G, NM_001346397.2:c.*218A>G, NM_001346397.1:c.*218A>G, NR_144429.2:n.1194A>G, NR_144429.1:n.1218A>G, NM_001346402.2:c.*218A>G, NM_001346402.1:c.*218A>G, NR_104271.2:n.1173A>G, NR_104271.1:n.1252A>G, NM_001145438.2:c.*218A>G, NR_027018.2:n.1131A>G, NM_001346398.2:c.*218A>G, NM_001346398.1:c.*218A>G, NM_001256240.2:c.*218A>G, NM_001256240.1:c.*218A>G, NM_001346400.2:c.*218A>G, NM_001346400.1:c.*218A>G, NM_001256239.2:c.*218A>G, NM_001256239.1:c.*218A>G, NR_045929.2:n.1026A>G, NR_045929.1:n.1050A>G, NR_045927.2:n.1004A>G, NR_045927.1:n.1083A>G, NR_144427.2:n.998A>G, NR_144427.1:n.1077A>G, NR_045923.2:n.925A>G, NR_045923.1:n.1004A>G, NR_104270.2:n.913A>G, NR_104270.1:n.992A>G, NR_104272.2:n.898A>G, NR_104272.1:n.922A>G, NR_045926.2:n.847A>G, NR_045926.1:n.926A>G, NR_045925.2:n.835A>G, NR_045925.1:n.914A>G, NR_144430.2:n.657A>G, NR_144430.1:n.681A>G, NM_001256236.1:c.*218A>G, NM_001346403.1:c.*357A>G, NM_001256237.1:c.*357A>G, NM_001283038.1:c.*218A>G, NM_001346404.1:c.*357A>G, NM_001256238.1:c.*357A>G, NM_001283039.1:c.*357A>G, NM_001256235.1:c.*218A>G, NM_001346405.1:c.*218A>G, NM_001283040.1:c.*357A>G, XM_006718181.4:c.*218A>G, XM_006718181.3:c.*218A>G, XM_006718181.2:c.*218A>G, XM_006718181.1:c.*218A>G, XM_011519998.3:c.*218A>G, XM_011519998.2:c.*218A>G, XM_011519998.1:c.*218A>G, XM_011520004.3:c.*218A>G, XM_011520004.2:c.*218A>G, XM_011520004.1:c.*218A>G, XM_011519990.3:c.*218A>G, XM_011519990.2:c.*218A>G, XM_011519990.1:c.*218A>G, XM_011519991.3:c.*218A>G, XM_011519991.2:c.*218A>G, XM_011519991.1:c.*218A>G, XM_006718185.3:c.*218A>G, XM_006718185.2:c.*218A>G, XM_006718185.1:c.*218A>G, XM_011519992.2:c.*218A>G, XM_011519992.1:c.*218A>G, XM_011519996.2:c.*218A>G, XM_011519996.1:c.*218A>G, XM_011519999.2:c.*218A>G, XM_011519999.1:c.*218A>G, XM_024448444.2:c.*218A>G, XM_024448444.1:c.*218A>G, XM_024448443.2:c.*218A>G, XM_024448443.1:c.*218A>G, XM_011520002.2:c.*218A>G, XM_011520002.1:c.*218A>G, XM_047426778.1:c.*218A>G, XM_047426777.1:c.*218A>G, XM_047426780.1:c.*218A>G, NR_027015.1:n.1279A>G, XM_047426781.1:c.*218A>G, XM_047426786.1:c.*218A>G, XM_047426779.1:c.*218A>G, XM_047426783.1:c.*218A>G, XM_047426788.1:c.*218A>G, XM_047426787.1:c.*218A>G, NR_027014.1:n.1120A>G, XM_047426782.1:c.*218A>G, NM_001145439.1:c.*357A>G

                                          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...