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Items: 1 to 20 of 817

1.

rs1487627564 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    18:62146000 (GRCh38)
    18:59813233 (GRCh37)
    Canonical SPDI:
    NC_000018.10:62145999:T:C
    Gene:
    PIGN (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000018.10:g.62146000T>C, NC_000018.9:g.59813233T>C, NG_033144.1:g.46057A>G, NM_012327.6:c.831A>G, NM_012327.5:c.831A>G, NM_176787.5:c.831A>G, NM_176787.4:c.831A>G, XM_011525890.2:c.831A>G, XM_011525890.1:c.831A>G, XM_011525889.2:c.831A>G, XM_011525889.1:c.831A>G, XM_011525896.2:c.831A>G, XM_011525896.1:c.831A>G, XM_011525892.2:c.831A>G, XM_011525892.1:c.831A>G, XM_011525893.2:c.831A>G, XM_011525893.1:c.831A>G, XM_011525891.2:c.831A>G, XM_011525891.1:c.831A>G, XM_011525895.2:c.831A>G, XM_011525895.1:c.831A>G, XM_011525894.2:c.831A>G, XM_011525894.1:c.831A>G, XM_017025685.2:c.831A>G, XM_017025685.1:c.831A>G, XM_011525898.2:c.831A>G, XM_011525898.1:c.831A>G, XM_047437437.1:c.831A>G, XM_047437438.1:c.831A>G, XM_047437432.1:c.831A>G, XM_047437434.1:c.831A>G, XM_047437436.1:c.831A>G, XM_047437433.1:c.831A>G, XM_047437440.1:c.831A>G, XM_047437435.1:c.831A>G, XM_047437457.1:c.831A>G, XM_047437439.1:c.831A>G, XM_047437446.1:c.831A>G, XM_047437450.1:c.831A>G, XM_047437453.1:c.831A>G, XM_047437454.1:c.831A>G, XM_047437451.1:c.831A>G, XM_047437455.1:c.831A>G, XM_047437441.1:c.831A>G, XM_047437456.1:c.831A>G, XM_047437443.1:c.831A>G, XM_047437452.1:c.831A>G, XM_047437458.1:c.831A>G, XM_047437445.1:c.831A>G, XM_047437459.1:c.831A>G, XM_047437448.1:c.831A>G, XM_047437447.1:c.831A>G, XM_047437444.1:c.831A>G, XM_047437449.1:c.831A>G, XM_047437460.1:c.831A>G, XM_047437463.1:c.831A>G, XM_047437462.1:c.831A>G, XM_047437464.1:c.831A>G, XM_047437430.1:c.831A>G, XM_047437442.1:c.831A>G, XM_047437431.1:c.831A>G, XM_047437461.1:c.831A>G

    2.

    rs1487409202 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      18:62154617 (GRCh38)
      18:59821850 (GRCh37)
      Canonical SPDI:
      NC_000018.10:62154616:A:G,NC_000018.10:62154616:A:T
      Gene:
      PIGN (Varview)
      Functional Consequence:
      synonymous_variant,stop_gained,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000018.10:g.62154617A>G, NC_000018.10:g.62154617A>T, NC_000018.9:g.59821850A>G, NC_000018.9:g.59821850A>T, NG_033144.1:g.37440T>C, NG_033144.1:g.37440T>A, NM_012327.6:c.477T>C, NM_012327.6:c.477T>A, NM_012327.5:c.477T>C, NM_012327.5:c.477T>A, NM_176787.5:c.477T>C, NM_176787.5:c.477T>A, NM_176787.4:c.477T>C, NM_176787.4:c.477T>A, XM_011525890.2:c.477T>C, XM_011525890.2:c.477T>A, XM_011525890.1:c.477T>C, XM_011525890.1:c.477T>A, XM_011525889.2:c.477T>C, XM_011525889.2:c.477T>A, XM_011525889.1:c.477T>C, XM_011525889.1:c.477T>A, XM_011525896.2:c.477T>C, XM_011525896.2:c.477T>A, XM_011525896.1:c.477T>C, XM_011525896.1:c.477T>A, XM_011525892.2:c.477T>C, XM_011525892.2:c.477T>A, XM_011525892.1:c.477T>C, XM_011525892.1:c.477T>A, XM_011525893.2:c.477T>C, XM_011525893.2:c.477T>A, XM_011525893.1:c.477T>C, XM_011525893.1:c.477T>A, XM_011525891.2:c.477T>C, XM_011525891.2:c.477T>A, XM_011525891.1:c.477T>C, XM_011525891.1:c.477T>A, XM_011525895.2:c.477T>C, XM_011525895.2:c.477T>A, XM_011525895.1:c.477T>C, XM_011525895.1:c.477T>A, XM_011525894.2:c.477T>C, XM_011525894.2:c.477T>A, XM_011525894.1:c.477T>C, XM_011525894.1:c.477T>A, XM_017025685.2:c.477T>C, XM_017025685.2:c.477T>A, XM_017025685.1:c.477T>C, XM_017025685.1:c.477T>A, XM_011525898.2:c.477T>C, XM_011525898.2:c.477T>A, XM_011525898.1:c.477T>C, XM_011525898.1:c.477T>A, XM_047437437.1:c.477T>C, XM_047437437.1:c.477T>A, XM_047437438.1:c.477T>C, XM_047437438.1:c.477T>A, XM_047437432.1:c.477T>C, XM_047437432.1:c.477T>A, XM_047437434.1:c.477T>C, XM_047437434.1:c.477T>A, XM_047437436.1:c.477T>C, XM_047437436.1:c.477T>A, XM_047437433.1:c.477T>C, XM_047437433.1:c.477T>A, XM_047437440.1:c.477T>C, XM_047437440.1:c.477T>A, XM_047437435.1:c.477T>C, XM_047437435.1:c.477T>A, XM_047437457.1:c.477T>C, XM_047437457.1:c.477T>A, XM_047437439.1:c.477T>C, XM_047437439.1:c.477T>A, XM_047437446.1:c.477T>C, XM_047437446.1:c.477T>A, XM_047437450.1:c.477T>C, XM_047437450.1:c.477T>A, XM_047437453.1:c.477T>C, XM_047437453.1:c.477T>A, XM_047437454.1:c.477T>C, XM_047437454.1:c.477T>A, XM_047437451.1:c.477T>C, XM_047437451.1:c.477T>A, XM_047437455.1:c.477T>C, XM_047437455.1:c.477T>A, XM_047437441.1:c.477T>C, XM_047437441.1:c.477T>A, XM_047437456.1:c.477T>C, XM_047437456.1:c.477T>A, XM_047437443.1:c.477T>C, XM_047437443.1:c.477T>A, XM_047437452.1:c.477T>C, XM_047437452.1:c.477T>A, XM_047437458.1:c.477T>C, XM_047437458.1:c.477T>A, XM_047437445.1:c.477T>C, XM_047437445.1:c.477T>A, XM_047437459.1:c.477T>C, XM_047437459.1:c.477T>A, XM_047437448.1:c.477T>C, XM_047437448.1:c.477T>A, XM_047437447.1:c.477T>C, XM_047437447.1:c.477T>A, XM_047437444.1:c.477T>C, XM_047437444.1:c.477T>A, XM_047437449.1:c.477T>C, XM_047437449.1:c.477T>A, XM_047437460.1:c.477T>C, XM_047437460.1:c.477T>A, XM_047437463.1:c.477T>C, XM_047437463.1:c.477T>A, XM_047437462.1:c.477T>C, XM_047437462.1:c.477T>A, XM_047437464.1:c.477T>C, XM_047437464.1:c.477T>A, XM_047437430.1:c.477T>C, XM_047437430.1:c.477T>A, XM_047437442.1:c.477T>C, XM_047437442.1:c.477T>A, XM_047437431.1:c.477T>C, XM_047437431.1:c.477T>A, XM_047437461.1:c.477T>C, XM_047437461.1:c.477T>A, NP_036459.1:p.Tyr159Ter, NP_789744.1:p.Tyr159Ter, XP_011524192.1:p.Tyr159Ter, XP_011524191.1:p.Tyr159Ter, XP_011524198.1:p.Tyr159Ter, XP_011524194.1:p.Tyr159Ter, XP_011524195.1:p.Tyr159Ter, XP_011524193.1:p.Tyr159Ter, XP_011524197.1:p.Tyr159Ter, XP_011524196.1:p.Tyr159Ter, XP_016881174.1:p.Tyr159Ter, XP_011524200.1:p.Tyr159Ter, XP_047293393.1:p.Tyr159Ter, XP_047293394.1:p.Tyr159Ter, XP_047293388.1:p.Tyr159Ter, XP_047293390.1:p.Tyr159Ter, XP_047293392.1:p.Tyr159Ter, XP_047293389.1:p.Tyr159Ter, XP_047293396.1:p.Tyr159Ter, XP_047293391.1:p.Tyr159Ter, XP_047293413.1:p.Tyr159Ter, XP_047293395.1:p.Tyr159Ter, XP_047293402.1:p.Tyr159Ter, XP_047293406.1:p.Tyr159Ter, XP_047293409.1:p.Tyr159Ter, XP_047293410.1:p.Tyr159Ter, XP_047293407.1:p.Tyr159Ter, XP_047293411.1:p.Tyr159Ter, XP_047293397.1:p.Tyr159Ter, XP_047293412.1:p.Tyr159Ter, XP_047293399.1:p.Tyr159Ter, XP_047293408.1:p.Tyr159Ter, XP_047293414.1:p.Tyr159Ter, XP_047293401.1:p.Tyr159Ter, XP_047293415.1:p.Tyr159Ter, XP_047293404.1:p.Tyr159Ter, XP_047293403.1:p.Tyr159Ter, XP_047293400.1:p.Tyr159Ter, XP_047293405.1:p.Tyr159Ter, XP_047293416.1:p.Tyr159Ter, XP_047293419.1:p.Tyr159Ter, XP_047293418.1:p.Tyr159Ter, XP_047293420.1:p.Tyr159Ter, XP_047293386.1:p.Tyr159Ter, XP_047293398.1:p.Tyr159Ter, XP_047293387.1:p.Tyr159Ter, XP_047293417.1:p.Tyr159Ter

      3.

      rs1486949098 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        18:62146013 (GRCh38)
        18:59813247 (GRCh37)
        Canonical SPDI:
        NC_000018.10:62146013:CCCC:CCCCC
        Gene:
        PIGN (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CCCCC=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        C=0.000019/5 (TOPMED)
        HGVS:
        NC_000018.10:g.62146017dup, NC_000018.9:g.59813250dup, NG_033144.1:g.46043dup, NM_012327.6:c.817dup, NM_012327.5:c.817dup, NM_176787.5:c.817dup, NM_176787.4:c.817dup, XM_011525890.2:c.817dup, XM_011525890.1:c.817dup, XM_011525889.2:c.817dup, XM_011525889.1:c.817dup, XM_011525896.2:c.817dup, XM_011525896.1:c.817dup, XM_011525892.2:c.817dup, XM_011525892.1:c.817dup, XM_011525893.2:c.817dup, XM_011525893.1:c.817dup, XM_011525891.2:c.817dup, XM_011525891.1:c.817dup, XM_011525895.2:c.817dup, XM_011525895.1:c.817dup, XM_011525894.2:c.817dup, XM_011525894.1:c.817dup, XM_017025685.2:c.817dup, XM_017025685.1:c.817dup, XM_011525898.2:c.817dup, XM_011525898.1:c.817dup, XM_047437437.1:c.817dup, XM_047437438.1:c.817dup, XM_047437432.1:c.817dup, XM_047437434.1:c.817dup, XM_047437436.1:c.817dup, XM_047437433.1:c.817dup, XM_047437440.1:c.817dup, XM_047437435.1:c.817dup, XM_047437457.1:c.817dup, XM_047437439.1:c.817dup, XM_047437446.1:c.817dup, XM_047437450.1:c.817dup, XM_047437453.1:c.817dup, XM_047437454.1:c.817dup, XM_047437451.1:c.817dup, XM_047437455.1:c.817dup, XM_047437441.1:c.817dup, XM_047437456.1:c.817dup, XM_047437443.1:c.817dup, XM_047437452.1:c.817dup, XM_047437458.1:c.817dup, XM_047437445.1:c.817dup, XM_047437459.1:c.817dup, XM_047437448.1:c.817dup, XM_047437447.1:c.817dup, XM_047437444.1:c.817dup, XM_047437449.1:c.817dup, XM_047437460.1:c.817dup, XM_047437463.1:c.817dup, XM_047437462.1:c.817dup, XM_047437464.1:c.817dup, XM_047437430.1:c.817dup, XM_047437442.1:c.817dup, XM_047437431.1:c.817dup, XM_047437461.1:c.817dup, NP_036459.1:p.Ala273fs, NP_789744.1:p.Ala273fs, XP_011524192.1:p.Ala273fs, XP_011524191.1:p.Ala273fs, XP_011524198.1:p.Ala273fs, XP_011524194.1:p.Ala273fs, XP_011524195.1:p.Ala273fs, XP_011524193.1:p.Ala273fs, XP_011524197.1:p.Ala273fs, XP_011524196.1:p.Ala273fs, XP_016881174.1:p.Ala273fs, XP_011524200.1:p.Ala273fs, XP_047293393.1:p.Ala273fs, XP_047293394.1:p.Ala273fs, XP_047293388.1:p.Ala273fs, XP_047293390.1:p.Ala273fs, XP_047293392.1:p.Ala273fs, XP_047293389.1:p.Ala273fs, XP_047293396.1:p.Ala273fs, XP_047293391.1:p.Ala273fs, XP_047293413.1:p.Ala273fs, XP_047293395.1:p.Ala273fs, XP_047293402.1:p.Ala273fs, XP_047293406.1:p.Ala273fs, XP_047293409.1:p.Ala273fs, XP_047293410.1:p.Ala273fs, XP_047293407.1:p.Ala273fs, XP_047293411.1:p.Ala273fs, XP_047293397.1:p.Ala273fs, XP_047293412.1:p.Ala273fs, XP_047293399.1:p.Ala273fs, XP_047293408.1:p.Ala273fs, XP_047293414.1:p.Ala273fs, XP_047293401.1:p.Ala273fs, XP_047293415.1:p.Ala273fs, XP_047293404.1:p.Ala273fs, XP_047293403.1:p.Ala273fs, XP_047293400.1:p.Ala273fs, XP_047293405.1:p.Ala273fs, XP_047293416.1:p.Ala273fs, XP_047293419.1:p.Ala273fs, XP_047293418.1:p.Ala273fs, XP_047293420.1:p.Ala273fs, XP_047293386.1:p.Ala273fs, XP_047293398.1:p.Ala273fs, XP_047293387.1:p.Ala273fs, XP_047293417.1:p.Ala273fs

        4.

        rs1486244565 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          18:62147087 (GRCh38)
          18:59814320 (GRCh37)
          Canonical SPDI:
          NC_000018.10:62147086:T:C
          Gene:
          PIGN (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000018.10:g.62147087T>C, NC_000018.9:g.59814320T>C, NG_033144.1:g.44970A>G, NM_012327.6:c.689A>G, NM_012327.5:c.689A>G, NM_176787.5:c.689A>G, NM_176787.4:c.689A>G, XM_011525890.2:c.689A>G, XM_011525890.1:c.689A>G, XM_011525889.2:c.689A>G, XM_011525889.1:c.689A>G, XM_011525896.2:c.689A>G, XM_011525896.1:c.689A>G, XM_011525892.2:c.689A>G, XM_011525892.1:c.689A>G, XM_011525893.2:c.689A>G, XM_011525893.1:c.689A>G, XM_011525891.2:c.689A>G, XM_011525891.1:c.689A>G, XM_011525895.2:c.689A>G, XM_011525895.1:c.689A>G, XM_011525894.2:c.689A>G, XM_011525894.1:c.689A>G, XM_017025685.2:c.689A>G, XM_017025685.1:c.689A>G, XM_011525898.2:c.689A>G, XM_011525898.1:c.689A>G, XM_047437437.1:c.689A>G, XM_047437438.1:c.689A>G, XM_047437432.1:c.689A>G, XM_047437434.1:c.689A>G, XM_047437436.1:c.689A>G, XM_047437433.1:c.689A>G, XM_047437440.1:c.689A>G, XM_047437435.1:c.689A>G, XM_047437457.1:c.689A>G, XM_047437439.1:c.689A>G, XM_047437446.1:c.689A>G, XM_047437450.1:c.689A>G, XM_047437453.1:c.689A>G, XM_047437454.1:c.689A>G, XM_047437451.1:c.689A>G, XM_047437455.1:c.689A>G, XM_047437441.1:c.689A>G, XM_047437456.1:c.689A>G, XM_047437443.1:c.689A>G, XM_047437452.1:c.689A>G, XM_047437458.1:c.689A>G, XM_047437445.1:c.689A>G, XM_047437459.1:c.689A>G, XM_047437448.1:c.689A>G, XM_047437447.1:c.689A>G, XM_047437444.1:c.689A>G, XM_047437449.1:c.689A>G, XM_047437460.1:c.689A>G, XM_047437463.1:c.689A>G, XM_047437462.1:c.689A>G, XM_047437464.1:c.689A>G, XM_047437430.1:c.689A>G, XM_047437442.1:c.689A>G, XM_047437431.1:c.689A>G, XM_047437461.1:c.689A>G, NP_036459.1:p.Asn230Ser, NP_789744.1:p.Asn230Ser, XP_011524192.1:p.Asn230Ser, XP_011524191.1:p.Asn230Ser, XP_011524198.1:p.Asn230Ser, XP_011524194.1:p.Asn230Ser, XP_011524195.1:p.Asn230Ser, XP_011524193.1:p.Asn230Ser, XP_011524197.1:p.Asn230Ser, XP_011524196.1:p.Asn230Ser, XP_016881174.1:p.Asn230Ser, XP_011524200.1:p.Asn230Ser, XP_047293393.1:p.Asn230Ser, XP_047293394.1:p.Asn230Ser, XP_047293388.1:p.Asn230Ser, XP_047293390.1:p.Asn230Ser, XP_047293392.1:p.Asn230Ser, XP_047293389.1:p.Asn230Ser, XP_047293396.1:p.Asn230Ser, XP_047293391.1:p.Asn230Ser, XP_047293413.1:p.Asn230Ser, XP_047293395.1:p.Asn230Ser, XP_047293402.1:p.Asn230Ser, XP_047293406.1:p.Asn230Ser, XP_047293409.1:p.Asn230Ser, XP_047293410.1:p.Asn230Ser, XP_047293407.1:p.Asn230Ser, XP_047293411.1:p.Asn230Ser, XP_047293397.1:p.Asn230Ser, XP_047293412.1:p.Asn230Ser, XP_047293399.1:p.Asn230Ser, XP_047293408.1:p.Asn230Ser, XP_047293414.1:p.Asn230Ser, XP_047293401.1:p.Asn230Ser, XP_047293415.1:p.Asn230Ser, XP_047293404.1:p.Asn230Ser, XP_047293403.1:p.Asn230Ser, XP_047293400.1:p.Asn230Ser, XP_047293405.1:p.Asn230Ser, XP_047293416.1:p.Asn230Ser, XP_047293419.1:p.Asn230Ser, XP_047293418.1:p.Asn230Ser, XP_047293420.1:p.Asn230Ser, XP_047293386.1:p.Asn230Ser, XP_047293398.1:p.Asn230Ser, XP_047293387.1:p.Asn230Ser, XP_047293417.1:p.Asn230Ser

          5.

          rs1485442732 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ATGTCAAA>- [Show Flanks]
            Chromosome:
            18:62161289 (GRCh38)
            18:59828522 (GRCh37)
            Canonical SPDI:
            NC_000018.10:62161286:AAATGTCAAA:AA
            Gene:
            PIGN (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.62161289_62161296del, NC_000018.9:g.59828522_59828529del, NG_033144.1:g.30763_30770del, NM_012327.6:c.60_67del, NM_012327.5:c.60_67del, NM_176787.5:c.60_67del, NM_176787.4:c.60_67del, XM_011525890.2:c.60_67del, XM_011525890.1:c.60_67del, XM_011525889.2:c.60_67del, XM_011525889.1:c.60_67del, XM_011525896.2:c.60_67del, XM_011525896.1:c.60_67del, XM_011525892.2:c.60_67del, XM_011525892.1:c.60_67del, XM_011525893.2:c.60_67del, XM_011525893.1:c.60_67del, XM_011525891.2:c.60_67del, XM_011525891.1:c.60_67del, XM_011525895.2:c.60_67del, XM_011525895.1:c.60_67del, XM_011525894.2:c.60_67del, XM_011525894.1:c.60_67del, XM_017025685.2:c.60_67del, XM_017025685.1:c.60_67del, XM_011525898.2:c.60_67del, XM_011525898.1:c.60_67del, XM_047437437.1:c.60_67del, XM_047437438.1:c.60_67del, XM_047437432.1:c.60_67del, XM_047437434.1:c.60_67del, XM_047437436.1:c.60_67del, XM_047437433.1:c.60_67del, XM_047437440.1:c.60_67del, XM_047437435.1:c.60_67del, XM_047437457.1:c.60_67del, XM_047437439.1:c.60_67del, XM_047437446.1:c.60_67del, XM_047437450.1:c.60_67del, XM_047437453.1:c.60_67del, XM_047437454.1:c.60_67del, XM_047437451.1:c.60_67del, XM_047437455.1:c.60_67del, XM_047437441.1:c.60_67del, XM_047437456.1:c.60_67del, XM_047437443.1:c.60_67del, XM_047437452.1:c.60_67del, XM_047437458.1:c.60_67del, XM_047437445.1:c.60_67del, XM_047437459.1:c.60_67del, XM_047437448.1:c.60_67del, XM_047437447.1:c.60_67del, XM_047437444.1:c.60_67del, XM_047437449.1:c.60_67del, XM_047437460.1:c.60_67del, XM_047437463.1:c.60_67del, XM_047437462.1:c.60_67del, XM_047437464.1:c.60_67del, XM_047437430.1:c.60_67del, XM_047437442.1:c.60_67del, XM_047437431.1:c.60_67del, XM_047437461.1:c.60_67del, NP_036459.1:p.Phe20fs, NP_789744.1:p.Phe20fs, XP_011524192.1:p.Phe20fs, XP_011524191.1:p.Phe20fs, XP_011524198.1:p.Phe20fs, XP_011524194.1:p.Phe20fs, XP_011524195.1:p.Phe20fs, XP_011524193.1:p.Phe20fs, XP_011524197.1:p.Phe20fs, XP_011524196.1:p.Phe20fs, XP_016881174.1:p.Phe20fs, XP_011524200.1:p.Phe20fs, XP_047293393.1:p.Phe20fs, XP_047293394.1:p.Phe20fs, XP_047293388.1:p.Phe20fs, XP_047293390.1:p.Phe20fs, XP_047293392.1:p.Phe20fs, XP_047293389.1:p.Phe20fs, XP_047293396.1:p.Phe20fs, XP_047293391.1:p.Phe20fs, XP_047293413.1:p.Phe20fs, XP_047293395.1:p.Phe20fs, XP_047293402.1:p.Phe20fs, XP_047293406.1:p.Phe20fs, XP_047293409.1:p.Phe20fs, XP_047293410.1:p.Phe20fs, XP_047293407.1:p.Phe20fs, XP_047293411.1:p.Phe20fs, XP_047293397.1:p.Phe20fs, XP_047293412.1:p.Phe20fs, XP_047293399.1:p.Phe20fs, XP_047293408.1:p.Phe20fs, XP_047293414.1:p.Phe20fs, XP_047293401.1:p.Phe20fs, XP_047293415.1:p.Phe20fs, XP_047293404.1:p.Phe20fs, XP_047293403.1:p.Phe20fs, XP_047293400.1:p.Phe20fs, XP_047293405.1:p.Phe20fs, XP_047293416.1:p.Phe20fs, XP_047293419.1:p.Phe20fs, XP_047293418.1:p.Phe20fs, XP_047293420.1:p.Phe20fs, XP_047293386.1:p.Phe20fs, XP_047293398.1:p.Phe20fs, XP_047293387.1:p.Phe20fs, XP_047293417.1:p.Phe20fs

            6.

            rs1484374045 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              18:62106868 (GRCh38)
              18:59774101 (GRCh37)
              Canonical SPDI:
              NC_000018.10:62106867:A:C,NC_000018.10:62106867:A:G
              Gene:
              PIGN (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000018.10:g.62106868A>C, NC_000018.10:g.62106868A>G, NC_000018.9:g.59774101A>C, NC_000018.9:g.59774101A>G, NG_033144.1:g.85189T>G, NG_033144.1:g.85189T>C, NM_012327.6:c.1688T>G, NM_012327.6:c.1688T>C, NM_012327.5:c.1688T>G, NM_012327.5:c.1688T>C, NM_176787.5:c.1688T>G, NM_176787.5:c.1688T>C, NM_176787.4:c.1688T>G, NM_176787.4:c.1688T>C, XM_011525890.2:c.1688T>G, XM_011525890.2:c.1688T>C, XM_011525890.1:c.1688T>G, XM_011525890.1:c.1688T>C, XM_011525889.2:c.1688T>G, XM_011525889.2:c.1688T>C, XM_011525889.1:c.1688T>G, XM_011525889.1:c.1688T>C, XM_011525896.2:c.1688T>G, XM_011525896.2:c.1688T>C, XM_011525896.1:c.1688T>G, XM_011525896.1:c.1688T>C, XM_011525892.2:c.1688T>G, XM_011525892.2:c.1688T>C, XM_011525892.1:c.1688T>G, XM_011525892.1:c.1688T>C, XM_011525893.2:c.1688T>G, XM_011525893.2:c.1688T>C, XM_011525893.1:c.1688T>G, XM_011525893.1:c.1688T>C, XM_011525891.2:c.1688T>G, XM_011525891.2:c.1688T>C, XM_011525891.1:c.1688T>G, XM_011525891.1:c.1688T>C, XM_011525895.2:c.1688T>G, XM_011525895.2:c.1688T>C, XM_011525895.1:c.1688T>G, XM_011525895.1:c.1688T>C, XM_011525894.2:c.1688T>G, XM_011525894.2:c.1688T>C, XM_011525894.1:c.1688T>G, XM_011525894.1:c.1688T>C, XM_017025685.2:c.1286T>G, XM_017025685.2:c.1286T>C, XM_017025685.1:c.1286T>G, XM_017025685.1:c.1286T>C, XM_011525898.2:c.1688T>G, XM_011525898.2:c.1688T>C, XM_011525898.1:c.1688T>G, XM_011525898.1:c.1688T>C, XM_047437437.1:c.1688T>G, XM_047437437.1:c.1688T>C, XM_047437438.1:c.1688T>G, XM_047437438.1:c.1688T>C, XM_047437432.1:c.1688T>G, XM_047437432.1:c.1688T>C, XM_047437434.1:c.1688T>G, XM_047437434.1:c.1688T>C, XM_047437436.1:c.1688T>G, XM_047437436.1:c.1688T>C, XM_047437433.1:c.1688T>G, XM_047437433.1:c.1688T>C, XM_047437440.1:c.1688T>G, XM_047437440.1:c.1688T>C, XM_047437435.1:c.1688T>G, XM_047437435.1:c.1688T>C, XM_047437457.1:c.1286T>G, XM_047437457.1:c.1286T>C, XM_047437439.1:c.1688T>G, XM_047437439.1:c.1688T>C, XM_047437446.1:c.1688T>G, XM_047437446.1:c.1688T>C, XM_047437450.1:c.1286T>G, XM_047437450.1:c.1286T>C, XM_047437453.1:c.1286T>G, XM_047437453.1:c.1286T>C, XM_047437454.1:c.1286T>G, XM_047437454.1:c.1286T>C, XM_047437451.1:c.1286T>G, XM_047437451.1:c.1286T>C, XM_047437455.1:c.1286T>G, XM_047437455.1:c.1286T>C, XM_047437441.1:c.1688T>G, XM_047437441.1:c.1688T>C, XM_047437456.1:c.1286T>G, XM_047437456.1:c.1286T>C, XM_047437443.1:c.1688T>G, XM_047437443.1:c.1688T>C, XM_047437452.1:c.1286T>G, XM_047437452.1:c.1286T>C, XM_047437458.1:c.1286T>G, XM_047437458.1:c.1286T>C, XM_047437445.1:c.1688T>G, XM_047437445.1:c.1688T>C, XM_047437459.1:c.1286T>G, XM_047437459.1:c.1286T>C, XM_047437448.1:c.1688T>G, XM_047437448.1:c.1688T>C, XM_047437447.1:c.1688T>G, XM_047437447.1:c.1688T>C, XM_047437444.1:c.1688T>G, XM_047437444.1:c.1688T>C, XM_047437449.1:c.1688T>G, XM_047437449.1:c.1688T>C, XM_047437460.1:c.1286T>G, XM_047437460.1:c.1286T>C, XM_047437463.1:c.1286T>G, XM_047437463.1:c.1286T>C, XM_047437462.1:c.1286T>G, XM_047437462.1:c.1286T>C, XM_047437464.1:c.1286T>G, XM_047437464.1:c.1286T>C, XM_047437430.1:c.1688T>G, XM_047437430.1:c.1688T>C, XM_047437442.1:c.1688T>G, XM_047437442.1:c.1688T>C, XM_047437431.1:c.1688T>G, XM_047437431.1:c.1688T>C, XM_047437461.1:c.1286T>G, XM_047437461.1:c.1286T>C, NP_036459.1:p.Phe563Cys, NP_036459.1:p.Phe563Ser, NP_789744.1:p.Phe563Cys, NP_789744.1:p.Phe563Ser, XP_011524192.1:p.Phe563Cys, XP_011524192.1:p.Phe563Ser, XP_011524191.1:p.Phe563Cys, XP_011524191.1:p.Phe563Ser, XP_011524198.1:p.Phe563Cys, XP_011524198.1:p.Phe563Ser, XP_011524194.1:p.Phe563Cys, XP_011524194.1:p.Phe563Ser, XP_011524195.1:p.Phe563Cys, XP_011524195.1:p.Phe563Ser, XP_011524193.1:p.Phe563Cys, XP_011524193.1:p.Phe563Ser, XP_011524197.1:p.Phe563Cys, XP_011524197.1:p.Phe563Ser, XP_011524196.1:p.Phe563Cys, XP_011524196.1:p.Phe563Ser, XP_016881174.1:p.Phe429Cys, XP_016881174.1:p.Phe429Ser, XP_011524200.1:p.Phe563Cys, XP_011524200.1:p.Phe563Ser, XP_047293393.1:p.Phe563Cys, XP_047293393.1:p.Phe563Ser, XP_047293394.1:p.Phe563Cys, XP_047293394.1:p.Phe563Ser, XP_047293388.1:p.Phe563Cys, XP_047293388.1:p.Phe563Ser, XP_047293390.1:p.Phe563Cys, XP_047293390.1:p.Phe563Ser, XP_047293392.1:p.Phe563Cys, XP_047293392.1:p.Phe563Ser, XP_047293389.1:p.Phe563Cys, XP_047293389.1:p.Phe563Ser, XP_047293396.1:p.Phe563Cys, XP_047293396.1:p.Phe563Ser, XP_047293391.1:p.Phe563Cys, XP_047293391.1:p.Phe563Ser, XP_047293413.1:p.Phe429Cys, XP_047293413.1:p.Phe429Ser, XP_047293395.1:p.Phe563Cys, XP_047293395.1:p.Phe563Ser, XP_047293402.1:p.Phe563Cys, XP_047293402.1:p.Phe563Ser, XP_047293406.1:p.Phe429Cys, XP_047293406.1:p.Phe429Ser, XP_047293409.1:p.Phe429Cys, XP_047293409.1:p.Phe429Ser, XP_047293410.1:p.Phe429Cys, XP_047293410.1:p.Phe429Ser, XP_047293407.1:p.Phe429Cys, XP_047293407.1:p.Phe429Ser, XP_047293411.1:p.Phe429Cys, XP_047293411.1:p.Phe429Ser, XP_047293397.1:p.Phe563Cys, XP_047293397.1:p.Phe563Ser, XP_047293412.1:p.Phe429Cys, XP_047293412.1:p.Phe429Ser, XP_047293399.1:p.Phe563Cys, XP_047293399.1:p.Phe563Ser, XP_047293408.1:p.Phe429Cys, XP_047293408.1:p.Phe429Ser, XP_047293414.1:p.Phe429Cys, XP_047293414.1:p.Phe429Ser, XP_047293401.1:p.Phe563Cys, XP_047293401.1:p.Phe563Ser, XP_047293415.1:p.Phe429Cys, XP_047293415.1:p.Phe429Ser, XP_047293404.1:p.Phe563Cys, XP_047293404.1:p.Phe563Ser, XP_047293403.1:p.Phe563Cys, XP_047293403.1:p.Phe563Ser, XP_047293400.1:p.Phe563Cys, XP_047293400.1:p.Phe563Ser, XP_047293405.1:p.Phe563Cys, XP_047293405.1:p.Phe563Ser, XP_047293416.1:p.Phe429Cys, XP_047293416.1:p.Phe429Ser, XP_047293419.1:p.Phe429Cys, XP_047293419.1:p.Phe429Ser, XP_047293418.1:p.Phe429Cys, XP_047293418.1:p.Phe429Ser, XP_047293420.1:p.Phe429Cys, XP_047293420.1:p.Phe429Ser, XP_047293386.1:p.Phe563Cys, XP_047293386.1:p.Phe563Ser, XP_047293398.1:p.Phe563Cys, XP_047293398.1:p.Phe563Ser, XP_047293387.1:p.Phe563Cys, XP_047293387.1:p.Phe563Ser, XP_047293417.1:p.Phe429Cys, XP_047293417.1:p.Phe429Ser

              7.

              rs1483537064 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                18:62072685 (GRCh38)
                18:59739918 (GRCh37)
                Canonical SPDI:
                NC_000018.10:62072684:T:G
                Gene:
                PIGN (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000018.10:g.62072685T>G, NC_000018.9:g.59739918T>G, NG_033144.1:g.119372A>C, NM_012327.6:c.2660A>C, NM_012327.5:c.2660A>C, NM_176787.5:c.2660A>C, NM_176787.4:c.2660A>C, XM_011525890.2:c.2660A>C, XM_011525890.1:c.2660A>C, XM_011525889.2:c.2660A>C, XM_011525889.1:c.2660A>C, XM_011525896.2:c.2660A>C, XM_011525896.1:c.2660A>C, XM_011525892.2:c.2660A>C, XM_011525892.1:c.2660A>C, XM_011525893.2:c.2660A>C, XM_011525893.1:c.2660A>C, XM_011525891.2:c.2660A>C, XM_011525891.1:c.2660A>C, XM_011525895.2:c.2660A>C, XM_011525895.1:c.2660A>C, XM_011525894.2:c.2660A>C, XM_011525894.1:c.2660A>C, XM_017025685.2:c.2258A>C, XM_017025685.1:c.2258A>C, XM_011525898.2:c.2660A>C, XM_011525898.1:c.2660A>C, XM_047437437.1:c.2660A>C, XM_047437438.1:c.2660A>C, XM_047437432.1:c.2660A>C, XM_047437434.1:c.2660A>C, XM_047437436.1:c.2660A>C, XM_047437433.1:c.2660A>C, XM_047437440.1:c.2660A>C, XM_047437435.1:c.2660A>C, XM_047437457.1:c.2258A>C, XM_047437439.1:c.2660A>C, XM_047437446.1:c.2660A>C, XM_047437450.1:c.2258A>C, XM_047437453.1:c.2258A>C, XM_047437454.1:c.2258A>C, XM_047437451.1:c.2258A>C, XM_047437455.1:c.2258A>C, XM_047437441.1:c.2660A>C, XM_047437456.1:c.2258A>C, XM_047437443.1:c.2660A>C, XM_047437452.1:c.2258A>C, XM_047437458.1:c.2258A>C, XM_047437445.1:c.2660A>C, XM_047437459.1:c.2258A>C, XM_047437448.1:c.2660A>C, XM_047437447.1:c.2660A>C, XM_047437444.1:c.2660A>C, XM_047437449.1:c.2660A>C, XM_047437460.1:c.2258A>C, XM_047437463.1:c.2258A>C, XM_047437462.1:c.2258A>C, XM_047437464.1:c.2258A>C, XM_047437430.1:c.2660A>C, XM_047437442.1:c.2660A>C, XM_047437431.1:c.2660A>C, XM_047437461.1:c.2258A>C, NP_036459.1:p.Asp887Ala, NP_789744.1:p.Asp887Ala, XP_011524192.1:p.Asp887Ala, XP_011524191.1:p.Asp887Ala, XP_011524198.1:p.Asp887Ala, XP_011524194.1:p.Asp887Ala, XP_011524195.1:p.Asp887Ala, XP_011524193.1:p.Asp887Ala, XP_011524197.1:p.Asp887Ala, XP_011524196.1:p.Asp887Ala, XP_016881174.1:p.Asp753Ala, XP_011524200.1:p.Asp887Ala, XP_047293393.1:p.Asp887Ala, XP_047293394.1:p.Asp887Ala, XP_047293388.1:p.Asp887Ala, XP_047293390.1:p.Asp887Ala, XP_047293392.1:p.Asp887Ala, XP_047293389.1:p.Asp887Ala, XP_047293396.1:p.Asp887Ala, XP_047293391.1:p.Asp887Ala, XP_047293413.1:p.Asp753Ala, XP_047293395.1:p.Asp887Ala, XP_047293402.1:p.Asp887Ala, XP_047293406.1:p.Asp753Ala, XP_047293409.1:p.Asp753Ala, XP_047293410.1:p.Asp753Ala, XP_047293407.1:p.Asp753Ala, XP_047293411.1:p.Asp753Ala, XP_047293397.1:p.Asp887Ala, XP_047293412.1:p.Asp753Ala, XP_047293399.1:p.Asp887Ala, XP_047293408.1:p.Asp753Ala, XP_047293414.1:p.Asp753Ala, XP_047293401.1:p.Asp887Ala, XP_047293415.1:p.Asp753Ala, XP_047293404.1:p.Asp887Ala, XP_047293403.1:p.Asp887Ala, XP_047293400.1:p.Asp887Ala, XP_047293405.1:p.Asp887Ala, XP_047293416.1:p.Asp753Ala, XP_047293419.1:p.Asp753Ala, XP_047293418.1:p.Asp753Ala, XP_047293420.1:p.Asp753Ala, XP_047293386.1:p.Asp887Ala, XP_047293398.1:p.Asp887Ala, XP_047293387.1:p.Asp887Ala, XP_047293417.1:p.Asp753Ala

                8.

                rs1483184135 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  18:62145924 (GRCh38)
                  18:59813157 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:62145923:C:T
                  Gene:
                  PIGN (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000018.10:g.62145924C>T, NC_000018.9:g.59813157C>T, NG_033144.1:g.46133G>A, NM_012327.6:c.907G>A, NM_012327.5:c.907G>A, NM_176787.5:c.907G>A, NM_176787.4:c.907G>A, XM_011525890.2:c.907G>A, XM_011525890.1:c.907G>A, XM_011525889.2:c.907G>A, XM_011525889.1:c.907G>A, XM_011525896.2:c.907G>A, XM_011525896.1:c.907G>A, XM_011525892.2:c.907G>A, XM_011525892.1:c.907G>A, XM_011525893.2:c.907G>A, XM_011525893.1:c.907G>A, XM_011525891.2:c.907G>A, XM_011525891.1:c.907G>A, XM_011525895.2:c.907G>A, XM_011525895.1:c.907G>A, XM_011525894.2:c.907G>A, XM_011525894.1:c.907G>A, XM_017025685.2:c.907G>A, XM_017025685.1:c.907G>A, XM_011525898.2:c.907G>A, XM_011525898.1:c.907G>A, XM_047437437.1:c.907G>A, XM_047437438.1:c.907G>A, XM_047437432.1:c.907G>A, XM_047437434.1:c.907G>A, XM_047437436.1:c.907G>A, XM_047437433.1:c.907G>A, XM_047437440.1:c.907G>A, XM_047437435.1:c.907G>A, XM_047437457.1:c.907G>A, XM_047437439.1:c.907G>A, XM_047437446.1:c.907G>A, XM_047437450.1:c.907G>A, XM_047437453.1:c.907G>A, XM_047437454.1:c.907G>A, XM_047437451.1:c.907G>A, XM_047437455.1:c.907G>A, XM_047437441.1:c.907G>A, XM_047437456.1:c.907G>A, XM_047437443.1:c.907G>A, XM_047437452.1:c.907G>A, XM_047437458.1:c.907G>A, XM_047437445.1:c.907G>A, XM_047437459.1:c.907G>A, XM_047437448.1:c.907G>A, XM_047437447.1:c.907G>A, XM_047437444.1:c.907G>A, XM_047437449.1:c.907G>A, XM_047437460.1:c.907G>A, XM_047437463.1:c.907G>A, XM_047437462.1:c.907G>A, XM_047437464.1:c.907G>A, XM_047437430.1:c.907G>A, XM_047437442.1:c.907G>A, XM_047437431.1:c.907G>A, XM_047437461.1:c.907G>A, NP_036459.1:p.Asp303Asn, NP_789744.1:p.Asp303Asn, XP_011524192.1:p.Asp303Asn, XP_011524191.1:p.Asp303Asn, XP_011524198.1:p.Asp303Asn, XP_011524194.1:p.Asp303Asn, XP_011524195.1:p.Asp303Asn, XP_011524193.1:p.Asp303Asn, XP_011524197.1:p.Asp303Asn, XP_011524196.1:p.Asp303Asn, XP_016881174.1:p.Asp303Asn, XP_011524200.1:p.Asp303Asn, XP_047293393.1:p.Asp303Asn, XP_047293394.1:p.Asp303Asn, XP_047293388.1:p.Asp303Asn, XP_047293390.1:p.Asp303Asn, XP_047293392.1:p.Asp303Asn, XP_047293389.1:p.Asp303Asn, XP_047293396.1:p.Asp303Asn, XP_047293391.1:p.Asp303Asn, XP_047293413.1:p.Asp303Asn, XP_047293395.1:p.Asp303Asn, XP_047293402.1:p.Asp303Asn, XP_047293406.1:p.Asp303Asn, XP_047293409.1:p.Asp303Asn, XP_047293410.1:p.Asp303Asn, XP_047293407.1:p.Asp303Asn, XP_047293411.1:p.Asp303Asn, XP_047293397.1:p.Asp303Asn, XP_047293412.1:p.Asp303Asn, XP_047293399.1:p.Asp303Asn, XP_047293408.1:p.Asp303Asn, XP_047293414.1:p.Asp303Asn, XP_047293401.1:p.Asp303Asn, XP_047293415.1:p.Asp303Asn, XP_047293404.1:p.Asp303Asn, XP_047293403.1:p.Asp303Asn, XP_047293400.1:p.Asp303Asn, XP_047293405.1:p.Asp303Asn, XP_047293416.1:p.Asp303Asn, XP_047293419.1:p.Asp303Asn, XP_047293418.1:p.Asp303Asn, XP_047293420.1:p.Asp303Asn, XP_047293386.1:p.Asp303Asn, XP_047293398.1:p.Asp303Asn, XP_047293387.1:p.Asp303Asn, XP_047293417.1:p.Asp303Asn

                  9.

                  rs1482906647 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    18:62082674 (GRCh38)
                    18:59749907 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:62082673:TTTTT:TTTT
                    Gene:
                    PIGN (Varview)
                    Functional Consequence:
                    frameshift_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTT=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000018.10:g.62082678del, NC_000018.9:g.59749911del, NG_033144.1:g.109383del, NM_012327.6:c.2575del, NM_012327.5:c.2575del, NM_176787.5:c.2575del, NM_176787.4:c.2575del, XM_011525890.2:c.2575del, XM_011525890.1:c.2575del, XM_011525889.2:c.2575del, XM_011525889.1:c.2575del, XM_011525896.2:c.2575del, XM_011525896.1:c.2575del, XM_011525892.2:c.2575del, XM_011525892.1:c.2575del, XM_011525893.2:c.2575del, XM_011525893.1:c.2575del, XM_011525891.2:c.2575del, XM_011525891.1:c.2575del, XM_011525895.2:c.2575del, XM_011525895.1:c.2575del, XM_011525894.2:c.2575del, XM_011525894.1:c.2575del, XM_017025685.2:c.2173del, XM_017025685.1:c.2173del, XM_011525898.2:c.2575del, XM_011525898.1:c.2575del, XM_047437437.1:c.2575del, XM_047437438.1:c.2575del, XM_047437432.1:c.2575del, XM_047437434.1:c.2575del, XM_047437436.1:c.2575del, XM_047437433.1:c.2575del, XM_047437440.1:c.2575del, XM_047437435.1:c.2575del, XM_047437457.1:c.2173del, XM_047437439.1:c.2575del, XM_047437446.1:c.2575del, XM_047437450.1:c.2173del, XM_047437453.1:c.2173del, XM_047437454.1:c.2173del, XM_047437451.1:c.2173del, XM_047437455.1:c.2173del, XM_047437441.1:c.2575del, XM_047437456.1:c.2173del, XM_047437443.1:c.2575del, XM_047437452.1:c.2173del, XM_047437458.1:c.2173del, XM_047437445.1:c.2575del, XM_047437459.1:c.2173del, XM_047437448.1:c.2575del, XM_047437447.1:c.2575del, XM_047437444.1:c.2575del, XM_047437449.1:c.2575del, XM_047437460.1:c.2173del, XM_047437463.1:c.2173del, XM_047437462.1:c.2173del, XM_047437464.1:c.2173del, XM_047437430.1:c.2575del, XM_047437442.1:c.2575del, XM_047437431.1:c.2575del, XM_047437461.1:c.2173del, NP_036459.1:p.Ser859fs, NP_789744.1:p.Ser859fs, XP_011524192.1:p.Ser859fs, XP_011524191.1:p.Ser859fs, XP_011524198.1:p.Ser859fs, XP_011524194.1:p.Ser859fs, XP_011524195.1:p.Ser859fs, XP_011524193.1:p.Ser859fs, XP_011524197.1:p.Ser859fs, XP_011524196.1:p.Ser859fs, XP_016881174.1:p.Ser725fs, XP_011524200.1:p.Ser859fs, XP_047293393.1:p.Ser859fs, XP_047293394.1:p.Ser859fs, XP_047293388.1:p.Ser859fs, XP_047293390.1:p.Ser859fs, XP_047293392.1:p.Ser859fs, XP_047293389.1:p.Ser859fs, XP_047293396.1:p.Ser859fs, XP_047293391.1:p.Ser859fs, XP_047293413.1:p.Ser725fs, XP_047293395.1:p.Ser859fs, XP_047293402.1:p.Ser859fs, XP_047293406.1:p.Ser725fs, XP_047293409.1:p.Ser725fs, XP_047293410.1:p.Ser725fs, XP_047293407.1:p.Ser725fs, XP_047293411.1:p.Ser725fs, XP_047293397.1:p.Ser859fs, XP_047293412.1:p.Ser725fs, XP_047293399.1:p.Ser859fs, XP_047293408.1:p.Ser725fs, XP_047293414.1:p.Ser725fs, XP_047293401.1:p.Ser859fs, XP_047293415.1:p.Ser725fs, XP_047293404.1:p.Ser859fs, XP_047293403.1:p.Ser859fs, XP_047293400.1:p.Ser859fs, XP_047293405.1:p.Ser859fs, XP_047293416.1:p.Ser725fs, XP_047293419.1:p.Ser725fs, XP_047293418.1:p.Ser725fs, XP_047293420.1:p.Ser725fs, XP_047293386.1:p.Ser859fs, XP_047293398.1:p.Ser859fs, XP_047293387.1:p.Ser859fs, XP_047293417.1:p.Ser725fs

                    10.

                    rs1482814558 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      18:62157764 (GRCh38)
                      18:59824997 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:62157763:C:T
                      Gene:
                      PIGN (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000018.10:g.62157764C>T, NC_000018.9:g.59824997C>T, NG_033144.1:g.34293G>A, NM_012327.6:c.266G>A, NM_012327.5:c.266G>A, NM_176787.5:c.266G>A, NM_176787.4:c.266G>A, XM_011525890.2:c.266G>A, XM_011525890.1:c.266G>A, XM_011525889.2:c.266G>A, XM_011525889.1:c.266G>A, XM_011525896.2:c.266G>A, XM_011525896.1:c.266G>A, XM_011525892.2:c.266G>A, XM_011525892.1:c.266G>A, XM_011525893.2:c.266G>A, XM_011525893.1:c.266G>A, XM_011525891.2:c.266G>A, XM_011525891.1:c.266G>A, XM_011525895.2:c.266G>A, XM_011525895.1:c.266G>A, XM_011525894.2:c.266G>A, XM_011525894.1:c.266G>A, XM_017025685.2:c.266G>A, XM_017025685.1:c.266G>A, XM_011525898.2:c.266G>A, XM_011525898.1:c.266G>A, XM_047437437.1:c.266G>A, XM_047437438.1:c.266G>A, XM_047437432.1:c.266G>A, XM_047437434.1:c.266G>A, XM_047437436.1:c.266G>A, XM_047437433.1:c.266G>A, XM_047437440.1:c.266G>A, XM_047437435.1:c.266G>A, XM_047437457.1:c.266G>A, XM_047437439.1:c.266G>A, XM_047437446.1:c.266G>A, XM_047437450.1:c.266G>A, XM_047437453.1:c.266G>A, XM_047437454.1:c.266G>A, XM_047437451.1:c.266G>A, XM_047437455.1:c.266G>A, XM_047437441.1:c.266G>A, XM_047437456.1:c.266G>A, XM_047437443.1:c.266G>A, XM_047437452.1:c.266G>A, XM_047437458.1:c.266G>A, XM_047437445.1:c.266G>A, XM_047437459.1:c.266G>A, XM_047437448.1:c.266G>A, XM_047437447.1:c.266G>A, XM_047437444.1:c.266G>A, XM_047437449.1:c.266G>A, XM_047437460.1:c.266G>A, XM_047437463.1:c.266G>A, XM_047437462.1:c.266G>A, XM_047437464.1:c.266G>A, XM_047437430.1:c.266G>A, XM_047437442.1:c.266G>A, XM_047437431.1:c.266G>A, XM_047437461.1:c.266G>A, NP_036459.1:p.Arg89His, NP_789744.1:p.Arg89His, XP_011524192.1:p.Arg89His, XP_011524191.1:p.Arg89His, XP_011524198.1:p.Arg89His, XP_011524194.1:p.Arg89His, XP_011524195.1:p.Arg89His, XP_011524193.1:p.Arg89His, XP_011524197.1:p.Arg89His, XP_011524196.1:p.Arg89His, XP_016881174.1:p.Arg89His, XP_011524200.1:p.Arg89His, XP_047293393.1:p.Arg89His, XP_047293394.1:p.Arg89His, XP_047293388.1:p.Arg89His, XP_047293390.1:p.Arg89His, XP_047293392.1:p.Arg89His, XP_047293389.1:p.Arg89His, XP_047293396.1:p.Arg89His, XP_047293391.1:p.Arg89His, XP_047293413.1:p.Arg89His, XP_047293395.1:p.Arg89His, XP_047293402.1:p.Arg89His, XP_047293406.1:p.Arg89His, XP_047293409.1:p.Arg89His, XP_047293410.1:p.Arg89His, XP_047293407.1:p.Arg89His, XP_047293411.1:p.Arg89His, XP_047293397.1:p.Arg89His, XP_047293412.1:p.Arg89His, XP_047293399.1:p.Arg89His, XP_047293408.1:p.Arg89His, XP_047293414.1:p.Arg89His, XP_047293401.1:p.Arg89His, XP_047293415.1:p.Arg89His, XP_047293404.1:p.Arg89His, XP_047293403.1:p.Arg89His, XP_047293400.1:p.Arg89His, XP_047293405.1:p.Arg89His, XP_047293416.1:p.Arg89His, XP_047293419.1:p.Arg89His, XP_047293418.1:p.Arg89His, XP_047293420.1:p.Arg89His, XP_047293386.1:p.Arg89His, XP_047293398.1:p.Arg89His, XP_047293387.1:p.Arg89His, XP_047293417.1:p.Arg89His

                      11.

                      rs1481216829 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        18:62154554 (GRCh38)
                        18:59821787 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:62154553:A:G
                        Gene:
                        PIGN (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000056/2 (ALFA)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000018.10:g.62154554A>G, NC_000018.9:g.59821787A>G, NG_033144.1:g.37503T>C, NM_012327.6:c.540T>C, NM_012327.5:c.540T>C, NM_176787.5:c.540T>C, NM_176787.4:c.540T>C, XM_011525890.2:c.540T>C, XM_011525890.1:c.540T>C, XM_011525889.2:c.540T>C, XM_011525889.1:c.540T>C, XM_011525896.2:c.540T>C, XM_011525896.1:c.540T>C, XM_011525892.2:c.540T>C, XM_011525892.1:c.540T>C, XM_011525893.2:c.540T>C, XM_011525893.1:c.540T>C, XM_011525891.2:c.540T>C, XM_011525891.1:c.540T>C, XM_011525895.2:c.540T>C, XM_011525895.1:c.540T>C, XM_011525894.2:c.540T>C, XM_011525894.1:c.540T>C, XM_017025685.2:c.540T>C, XM_017025685.1:c.540T>C, XM_011525898.2:c.540T>C, XM_011525898.1:c.540T>C, XM_047437437.1:c.540T>C, XM_047437438.1:c.540T>C, XM_047437432.1:c.540T>C, XM_047437434.1:c.540T>C, XM_047437436.1:c.540T>C, XM_047437433.1:c.540T>C, XM_047437440.1:c.540T>C, XM_047437435.1:c.540T>C, XM_047437457.1:c.540T>C, XM_047437439.1:c.540T>C, XM_047437446.1:c.540T>C, XM_047437450.1:c.540T>C, XM_047437453.1:c.540T>C, XM_047437454.1:c.540T>C, XM_047437451.1:c.540T>C, XM_047437455.1:c.540T>C, XM_047437441.1:c.540T>C, XM_047437456.1:c.540T>C, XM_047437443.1:c.540T>C, XM_047437452.1:c.540T>C, XM_047437458.1:c.540T>C, XM_047437445.1:c.540T>C, XM_047437459.1:c.540T>C, XM_047437448.1:c.540T>C, XM_047437447.1:c.540T>C, XM_047437444.1:c.540T>C, XM_047437449.1:c.540T>C, XM_047437460.1:c.540T>C, XM_047437463.1:c.540T>C, XM_047437462.1:c.540T>C, XM_047437464.1:c.540T>C, XM_047437430.1:c.540T>C, XM_047437442.1:c.540T>C, XM_047437431.1:c.540T>C, XM_047437461.1:c.540T>C

                        12.

                        rs1479115740 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          18:62161284 (GRCh38)
                          18:59828517 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:62161283:A:T
                          Gene:
                          PIGN (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000018.10:g.62161284A>T, NC_000018.9:g.59828517A>T, NG_033144.1:g.30773T>A, NM_012327.6:c.70T>A, NM_012327.5:c.70T>A, NM_176787.5:c.70T>A, NM_176787.4:c.70T>A, XM_011525890.2:c.70T>A, XM_011525890.1:c.70T>A, XM_011525889.2:c.70T>A, XM_011525889.1:c.70T>A, XM_011525896.2:c.70T>A, XM_011525896.1:c.70T>A, XM_011525892.2:c.70T>A, XM_011525892.1:c.70T>A, XM_011525893.2:c.70T>A, XM_011525893.1:c.70T>A, XM_011525891.2:c.70T>A, XM_011525891.1:c.70T>A, XM_011525895.2:c.70T>A, XM_011525895.1:c.70T>A, XM_011525894.2:c.70T>A, XM_011525894.1:c.70T>A, XM_017025685.2:c.70T>A, XM_017025685.1:c.70T>A, XM_011525898.2:c.70T>A, XM_011525898.1:c.70T>A, XM_047437437.1:c.70T>A, XM_047437438.1:c.70T>A, XM_047437432.1:c.70T>A, XM_047437434.1:c.70T>A, XM_047437436.1:c.70T>A, XM_047437433.1:c.70T>A, XM_047437440.1:c.70T>A, XM_047437435.1:c.70T>A, XM_047437457.1:c.70T>A, XM_047437439.1:c.70T>A, XM_047437446.1:c.70T>A, XM_047437450.1:c.70T>A, XM_047437453.1:c.70T>A, XM_047437454.1:c.70T>A, XM_047437451.1:c.70T>A, XM_047437455.1:c.70T>A, XM_047437441.1:c.70T>A, XM_047437456.1:c.70T>A, XM_047437443.1:c.70T>A, XM_047437452.1:c.70T>A, XM_047437458.1:c.70T>A, XM_047437445.1:c.70T>A, XM_047437459.1:c.70T>A, XM_047437448.1:c.70T>A, XM_047437447.1:c.70T>A, XM_047437444.1:c.70T>A, XM_047437449.1:c.70T>A, XM_047437460.1:c.70T>A, XM_047437463.1:c.70T>A, XM_047437462.1:c.70T>A, XM_047437464.1:c.70T>A, XM_047437430.1:c.70T>A, XM_047437442.1:c.70T>A, XM_047437431.1:c.70T>A, XM_047437461.1:c.70T>A, NP_036459.1:p.Phe24Ile, NP_789744.1:p.Phe24Ile, XP_011524192.1:p.Phe24Ile, XP_011524191.1:p.Phe24Ile, XP_011524198.1:p.Phe24Ile, XP_011524194.1:p.Phe24Ile, XP_011524195.1:p.Phe24Ile, XP_011524193.1:p.Phe24Ile, XP_011524197.1:p.Phe24Ile, XP_011524196.1:p.Phe24Ile, XP_016881174.1:p.Phe24Ile, XP_011524200.1:p.Phe24Ile, XP_047293393.1:p.Phe24Ile, XP_047293394.1:p.Phe24Ile, XP_047293388.1:p.Phe24Ile, XP_047293390.1:p.Phe24Ile, XP_047293392.1:p.Phe24Ile, XP_047293389.1:p.Phe24Ile, XP_047293396.1:p.Phe24Ile, XP_047293391.1:p.Phe24Ile, XP_047293413.1:p.Phe24Ile, XP_047293395.1:p.Phe24Ile, XP_047293402.1:p.Phe24Ile, XP_047293406.1:p.Phe24Ile, XP_047293409.1:p.Phe24Ile, XP_047293410.1:p.Phe24Ile, XP_047293407.1:p.Phe24Ile, XP_047293411.1:p.Phe24Ile, XP_047293397.1:p.Phe24Ile, XP_047293412.1:p.Phe24Ile, XP_047293399.1:p.Phe24Ile, XP_047293408.1:p.Phe24Ile, XP_047293414.1:p.Phe24Ile, XP_047293401.1:p.Phe24Ile, XP_047293415.1:p.Phe24Ile, XP_047293404.1:p.Phe24Ile, XP_047293403.1:p.Phe24Ile, XP_047293400.1:p.Phe24Ile, XP_047293405.1:p.Phe24Ile, XP_047293416.1:p.Phe24Ile, XP_047293419.1:p.Phe24Ile, XP_047293418.1:p.Phe24Ile, XP_047293420.1:p.Phe24Ile, XP_047293386.1:p.Phe24Ile, XP_047293398.1:p.Phe24Ile, XP_047293387.1:p.Phe24Ile, XP_047293417.1:p.Phe24Ile

                          13.

                          rs1478932484 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            18:62145944 (GRCh38)
                            18:59813177 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:62145943:A:G,NC_000018.10:62145943:A:T
                            Gene:
                            PIGN (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000031/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000018.10:g.62145944A>G, NC_000018.10:g.62145944A>T, NC_000018.9:g.59813177A>G, NC_000018.9:g.59813177A>T, NG_033144.1:g.46113T>C, NG_033144.1:g.46113T>A, NM_012327.6:c.887T>C, NM_012327.6:c.887T>A, NM_012327.5:c.887T>C, NM_012327.5:c.887T>A, NM_176787.5:c.887T>C, NM_176787.5:c.887T>A, NM_176787.4:c.887T>C, NM_176787.4:c.887T>A, XM_011525890.2:c.887T>C, XM_011525890.2:c.887T>A, XM_011525890.1:c.887T>C, XM_011525890.1:c.887T>A, XM_011525889.2:c.887T>C, XM_011525889.2:c.887T>A, XM_011525889.1:c.887T>C, XM_011525889.1:c.887T>A, XM_011525896.2:c.887T>C, XM_011525896.2:c.887T>A, XM_011525896.1:c.887T>C, XM_011525896.1:c.887T>A, XM_011525892.2:c.887T>C, XM_011525892.2:c.887T>A, XM_011525892.1:c.887T>C, XM_011525892.1:c.887T>A, XM_011525893.2:c.887T>C, XM_011525893.2:c.887T>A, XM_011525893.1:c.887T>C, XM_011525893.1:c.887T>A, XM_011525891.2:c.887T>C, XM_011525891.2:c.887T>A, XM_011525891.1:c.887T>C, XM_011525891.1:c.887T>A, XM_011525895.2:c.887T>C, XM_011525895.2:c.887T>A, XM_011525895.1:c.887T>C, XM_011525895.1:c.887T>A, XM_011525894.2:c.887T>C, XM_011525894.2:c.887T>A, XM_011525894.1:c.887T>C, XM_011525894.1:c.887T>A, XM_017025685.2:c.887T>C, XM_017025685.2:c.887T>A, XM_017025685.1:c.887T>C, XM_017025685.1:c.887T>A, XM_011525898.2:c.887T>C, XM_011525898.2:c.887T>A, XM_011525898.1:c.887T>C, XM_011525898.1:c.887T>A, XM_047437437.1:c.887T>C, XM_047437437.1:c.887T>A, XM_047437438.1:c.887T>C, XM_047437438.1:c.887T>A, XM_047437432.1:c.887T>C, XM_047437432.1:c.887T>A, XM_047437434.1:c.887T>C, XM_047437434.1:c.887T>A, XM_047437436.1:c.887T>C, XM_047437436.1:c.887T>A, XM_047437433.1:c.887T>C, XM_047437433.1:c.887T>A, XM_047437440.1:c.887T>C, XM_047437440.1:c.887T>A, XM_047437435.1:c.887T>C, XM_047437435.1:c.887T>A, XM_047437457.1:c.887T>C, XM_047437457.1:c.887T>A, XM_047437439.1:c.887T>C, XM_047437439.1:c.887T>A, XM_047437446.1:c.887T>C, XM_047437446.1:c.887T>A, XM_047437450.1:c.887T>C, XM_047437450.1:c.887T>A, XM_047437453.1:c.887T>C, XM_047437453.1:c.887T>A, XM_047437454.1:c.887T>C, XM_047437454.1:c.887T>A, XM_047437451.1:c.887T>C, XM_047437451.1:c.887T>A, XM_047437455.1:c.887T>C, XM_047437455.1:c.887T>A, XM_047437441.1:c.887T>C, XM_047437441.1:c.887T>A, XM_047437456.1:c.887T>C, XM_047437456.1:c.887T>A, XM_047437443.1:c.887T>C, XM_047437443.1:c.887T>A, XM_047437452.1:c.887T>C, XM_047437452.1:c.887T>A, XM_047437458.1:c.887T>C, XM_047437458.1:c.887T>A, XM_047437445.1:c.887T>C, XM_047437445.1:c.887T>A, XM_047437459.1:c.887T>C, XM_047437459.1:c.887T>A, XM_047437448.1:c.887T>C, XM_047437448.1:c.887T>A, XM_047437447.1:c.887T>C, XM_047437447.1:c.887T>A, XM_047437444.1:c.887T>C, XM_047437444.1:c.887T>A, XM_047437449.1:c.887T>C, XM_047437449.1:c.887T>A, XM_047437460.1:c.887T>C, XM_047437460.1:c.887T>A, XM_047437463.1:c.887T>C, XM_047437463.1:c.887T>A, XM_047437462.1:c.887T>C, XM_047437462.1:c.887T>A, XM_047437464.1:c.887T>C, XM_047437464.1:c.887T>A, XM_047437430.1:c.887T>C, XM_047437430.1:c.887T>A, XM_047437442.1:c.887T>C, XM_047437442.1:c.887T>A, XM_047437431.1:c.887T>C, XM_047437431.1:c.887T>A, XM_047437461.1:c.887T>C, XM_047437461.1:c.887T>A, NP_036459.1:p.Val296Ala, NP_036459.1:p.Val296Glu, NP_789744.1:p.Val296Ala, NP_789744.1:p.Val296Glu, XP_011524192.1:p.Val296Ala, XP_011524192.1:p.Val296Glu, XP_011524191.1:p.Val296Ala, XP_011524191.1:p.Val296Glu, XP_011524198.1:p.Val296Ala, XP_011524198.1:p.Val296Glu, XP_011524194.1:p.Val296Ala, XP_011524194.1:p.Val296Glu, XP_011524195.1:p.Val296Ala, XP_011524195.1:p.Val296Glu, XP_011524193.1:p.Val296Ala, XP_011524193.1:p.Val296Glu, XP_011524197.1:p.Val296Ala, XP_011524197.1:p.Val296Glu, XP_011524196.1:p.Val296Ala, XP_011524196.1:p.Val296Glu, XP_016881174.1:p.Val296Ala, XP_016881174.1:p.Val296Glu, XP_011524200.1:p.Val296Ala, XP_011524200.1:p.Val296Glu, XP_047293393.1:p.Val296Ala, XP_047293393.1:p.Val296Glu, XP_047293394.1:p.Val296Ala, XP_047293394.1:p.Val296Glu, XP_047293388.1:p.Val296Ala, XP_047293388.1:p.Val296Glu, XP_047293390.1:p.Val296Ala, XP_047293390.1:p.Val296Glu, XP_047293392.1:p.Val296Ala, XP_047293392.1:p.Val296Glu, XP_047293389.1:p.Val296Ala, XP_047293389.1:p.Val296Glu, XP_047293396.1:p.Val296Ala, XP_047293396.1:p.Val296Glu, XP_047293391.1:p.Val296Ala, XP_047293391.1:p.Val296Glu, XP_047293413.1:p.Val296Ala, XP_047293413.1:p.Val296Glu, XP_047293395.1:p.Val296Ala, XP_047293395.1:p.Val296Glu, XP_047293402.1:p.Val296Ala, XP_047293402.1:p.Val296Glu, XP_047293406.1:p.Val296Ala, XP_047293406.1:p.Val296Glu, XP_047293409.1:p.Val296Ala, XP_047293409.1:p.Val296Glu, XP_047293410.1:p.Val296Ala, XP_047293410.1:p.Val296Glu, XP_047293407.1:p.Val296Ala, XP_047293407.1:p.Val296Glu, XP_047293411.1:p.Val296Ala, XP_047293411.1:p.Val296Glu, XP_047293397.1:p.Val296Ala, XP_047293397.1:p.Val296Glu, XP_047293412.1:p.Val296Ala, XP_047293412.1:p.Val296Glu, XP_047293399.1:p.Val296Ala, XP_047293399.1:p.Val296Glu, XP_047293408.1:p.Val296Ala, XP_047293408.1:p.Val296Glu, XP_047293414.1:p.Val296Ala, XP_047293414.1:p.Val296Glu, XP_047293401.1:p.Val296Ala, XP_047293401.1:p.Val296Glu, XP_047293415.1:p.Val296Ala, XP_047293415.1:p.Val296Glu, XP_047293404.1:p.Val296Ala, XP_047293404.1:p.Val296Glu, XP_047293403.1:p.Val296Ala, XP_047293403.1:p.Val296Glu, XP_047293400.1:p.Val296Ala, XP_047293400.1:p.Val296Glu, XP_047293405.1:p.Val296Ala, XP_047293405.1:p.Val296Glu, XP_047293416.1:p.Val296Ala, XP_047293416.1:p.Val296Glu, XP_047293419.1:p.Val296Ala, XP_047293419.1:p.Val296Glu, XP_047293418.1:p.Val296Ala, XP_047293418.1:p.Val296Glu, XP_047293420.1:p.Val296Ala, XP_047293420.1:p.Val296Glu, XP_047293386.1:p.Val296Ala, XP_047293386.1:p.Val296Glu, XP_047293398.1:p.Val296Ala, XP_047293398.1:p.Val296Glu, XP_047293387.1:p.Val296Ala, XP_047293387.1:p.Val296Glu, XP_047293417.1:p.Val296Ala, XP_047293417.1:p.Val296Glu

                            14.

                            rs1478856956 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              18:62145926 (GRCh38)
                              18:59813159 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:62145925:T:A
                              Gene:
                              PIGN (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000018.10:g.62145926T>A, NC_000018.9:g.59813159T>A, NG_033144.1:g.46131A>T, NM_012327.6:c.905A>T, NM_012327.5:c.905A>T, NM_176787.5:c.905A>T, NM_176787.4:c.905A>T, XM_011525890.2:c.905A>T, XM_011525890.1:c.905A>T, XM_011525889.2:c.905A>T, XM_011525889.1:c.905A>T, XM_011525896.2:c.905A>T, XM_011525896.1:c.905A>T, XM_011525892.2:c.905A>T, XM_011525892.1:c.905A>T, XM_011525893.2:c.905A>T, XM_011525893.1:c.905A>T, XM_011525891.2:c.905A>T, XM_011525891.1:c.905A>T, XM_011525895.2:c.905A>T, XM_011525895.1:c.905A>T, XM_011525894.2:c.905A>T, XM_011525894.1:c.905A>T, XM_017025685.2:c.905A>T, XM_017025685.1:c.905A>T, XM_011525898.2:c.905A>T, XM_011525898.1:c.905A>T, XM_047437437.1:c.905A>T, XM_047437438.1:c.905A>T, XM_047437432.1:c.905A>T, XM_047437434.1:c.905A>T, XM_047437436.1:c.905A>T, XM_047437433.1:c.905A>T, XM_047437440.1:c.905A>T, XM_047437435.1:c.905A>T, XM_047437457.1:c.905A>T, XM_047437439.1:c.905A>T, XM_047437446.1:c.905A>T, XM_047437450.1:c.905A>T, XM_047437453.1:c.905A>T, XM_047437454.1:c.905A>T, XM_047437451.1:c.905A>T, XM_047437455.1:c.905A>T, XM_047437441.1:c.905A>T, XM_047437456.1:c.905A>T, XM_047437443.1:c.905A>T, XM_047437452.1:c.905A>T, XM_047437458.1:c.905A>T, XM_047437445.1:c.905A>T, XM_047437459.1:c.905A>T, XM_047437448.1:c.905A>T, XM_047437447.1:c.905A>T, XM_047437444.1:c.905A>T, XM_047437449.1:c.905A>T, XM_047437460.1:c.905A>T, XM_047437463.1:c.905A>T, XM_047437462.1:c.905A>T, XM_047437464.1:c.905A>T, XM_047437430.1:c.905A>T, XM_047437442.1:c.905A>T, XM_047437431.1:c.905A>T, XM_047437461.1:c.905A>T, NP_036459.1:p.Asp302Val, NP_789744.1:p.Asp302Val, XP_011524192.1:p.Asp302Val, XP_011524191.1:p.Asp302Val, XP_011524198.1:p.Asp302Val, XP_011524194.1:p.Asp302Val, XP_011524195.1:p.Asp302Val, XP_011524193.1:p.Asp302Val, XP_011524197.1:p.Asp302Val, XP_011524196.1:p.Asp302Val, XP_016881174.1:p.Asp302Val, XP_011524200.1:p.Asp302Val, XP_047293393.1:p.Asp302Val, XP_047293394.1:p.Asp302Val, XP_047293388.1:p.Asp302Val, XP_047293390.1:p.Asp302Val, XP_047293392.1:p.Asp302Val, XP_047293389.1:p.Asp302Val, XP_047293396.1:p.Asp302Val, XP_047293391.1:p.Asp302Val, XP_047293413.1:p.Asp302Val, XP_047293395.1:p.Asp302Val, XP_047293402.1:p.Asp302Val, XP_047293406.1:p.Asp302Val, XP_047293409.1:p.Asp302Val, XP_047293410.1:p.Asp302Val, XP_047293407.1:p.Asp302Val, XP_047293411.1:p.Asp302Val, XP_047293397.1:p.Asp302Val, XP_047293412.1:p.Asp302Val, XP_047293399.1:p.Asp302Val, XP_047293408.1:p.Asp302Val, XP_047293414.1:p.Asp302Val, XP_047293401.1:p.Asp302Val, XP_047293415.1:p.Asp302Val, XP_047293404.1:p.Asp302Val, XP_047293403.1:p.Asp302Val, XP_047293400.1:p.Asp302Val, XP_047293405.1:p.Asp302Val, XP_047293416.1:p.Asp302Val, XP_047293419.1:p.Asp302Val, XP_047293418.1:p.Asp302Val, XP_047293420.1:p.Asp302Val, XP_047293386.1:p.Asp302Val, XP_047293398.1:p.Asp302Val, XP_047293387.1:p.Asp302Val, XP_047293417.1:p.Asp302Val

                              15.

                              rs1477497052 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                18:62140442 (GRCh38)
                                18:59807675 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:62140441:A:G
                                Gene:
                                PIGN (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.00005/1 (ALFA)
                                HGVS:
                                NC_000018.10:g.62140442A>G, NC_000018.9:g.59807675A>G, NG_033144.1:g.51615T>C, NM_012327.6:c.1001T>C, NM_012327.5:c.1001T>C, NM_176787.5:c.1001T>C, NM_176787.4:c.1001T>C, XM_011525890.2:c.1001T>C, XM_011525890.1:c.1001T>C, XM_011525889.2:c.1001T>C, XM_011525889.1:c.1001T>C, XM_011525896.2:c.1001T>C, XM_011525896.1:c.1001T>C, XM_011525892.2:c.1001T>C, XM_011525892.1:c.1001T>C, XM_011525893.2:c.1001T>C, XM_011525893.1:c.1001T>C, XM_011525891.2:c.1001T>C, XM_011525891.1:c.1001T>C, XM_011525895.2:c.1001T>C, XM_011525895.1:c.1001T>C, XM_011525894.2:c.1001T>C, XM_011525894.1:c.1001T>C, XM_017025685.2:c.1001T>C, XM_017025685.1:c.1001T>C, XM_011525898.2:c.1001T>C, XM_011525898.1:c.1001T>C, XM_047437437.1:c.1001T>C, XM_047437438.1:c.1001T>C, XM_047437432.1:c.1001T>C, XM_047437434.1:c.1001T>C, XM_047437436.1:c.1001T>C, XM_047437433.1:c.1001T>C, XM_047437440.1:c.1001T>C, XM_047437435.1:c.1001T>C, XM_047437457.1:c.1001T>C, XM_047437439.1:c.1001T>C, XM_047437446.1:c.1001T>C, XM_047437450.1:c.1001T>C, XM_047437453.1:c.1001T>C, XM_047437454.1:c.1001T>C, XM_047437451.1:c.1001T>C, XM_047437455.1:c.1001T>C, XM_047437441.1:c.1001T>C, XM_047437456.1:c.1001T>C, XM_047437443.1:c.1001T>C, XM_047437452.1:c.1001T>C, XM_047437458.1:c.1001T>C, XM_047437445.1:c.1001T>C, XM_047437459.1:c.1001T>C, XM_047437448.1:c.1001T>C, XM_047437447.1:c.1001T>C, XM_047437444.1:c.1001T>C, XM_047437449.1:c.1001T>C, XM_047437460.1:c.1001T>C, XM_047437463.1:c.1001T>C, XM_047437462.1:c.1001T>C, XM_047437464.1:c.1001T>C, XM_047437430.1:c.1001T>C, XM_047437442.1:c.1001T>C, XM_047437431.1:c.1001T>C, XM_047437461.1:c.1001T>C, NP_036459.1:p.Val334Ala, NP_789744.1:p.Val334Ala, XP_011524192.1:p.Val334Ala, XP_011524191.1:p.Val334Ala, XP_011524198.1:p.Val334Ala, XP_011524194.1:p.Val334Ala, XP_011524195.1:p.Val334Ala, XP_011524193.1:p.Val334Ala, XP_011524197.1:p.Val334Ala, XP_011524196.1:p.Val334Ala, XP_016881174.1:p.Val334Ala, XP_011524200.1:p.Val334Ala, XP_047293393.1:p.Val334Ala, XP_047293394.1:p.Val334Ala, XP_047293388.1:p.Val334Ala, XP_047293390.1:p.Val334Ala, XP_047293392.1:p.Val334Ala, XP_047293389.1:p.Val334Ala, XP_047293396.1:p.Val334Ala, XP_047293391.1:p.Val334Ala, XP_047293413.1:p.Val334Ala, XP_047293395.1:p.Val334Ala, XP_047293402.1:p.Val334Ala, XP_047293406.1:p.Val334Ala, XP_047293409.1:p.Val334Ala, XP_047293410.1:p.Val334Ala, XP_047293407.1:p.Val334Ala, XP_047293411.1:p.Val334Ala, XP_047293397.1:p.Val334Ala, XP_047293412.1:p.Val334Ala, XP_047293399.1:p.Val334Ala, XP_047293408.1:p.Val334Ala, XP_047293414.1:p.Val334Ala, XP_047293401.1:p.Val334Ala, XP_047293415.1:p.Val334Ala, XP_047293404.1:p.Val334Ala, XP_047293403.1:p.Val334Ala, XP_047293400.1:p.Val334Ala, XP_047293405.1:p.Val334Ala, XP_047293416.1:p.Val334Ala, XP_047293419.1:p.Val334Ala, XP_047293418.1:p.Val334Ala, XP_047293420.1:p.Val334Ala, XP_047293386.1:p.Val334Ala, XP_047293398.1:p.Val334Ala, XP_047293387.1:p.Val334Ala, XP_047293417.1:p.Val334Ala

                                16.

                                rs1476863780 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  18:62088821 (GRCh38)
                                  18:59756054 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:62088820:A:G
                                  Gene:
                                  PIGN (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000018.10:g.62088821A>G, NC_000018.9:g.59756054A>G, NG_033144.1:g.103236T>C, NM_012327.6:c.2305T>C, NM_012327.5:c.2305T>C, NM_176787.5:c.2305T>C, NM_176787.4:c.2305T>C, XM_011525890.2:c.2305T>C, XM_011525890.1:c.2305T>C, XM_011525889.2:c.2305T>C, XM_011525889.1:c.2305T>C, XM_011525896.2:c.2305T>C, XM_011525896.1:c.2305T>C, XM_011525892.2:c.2305T>C, XM_011525892.1:c.2305T>C, XM_011525893.2:c.2305T>C, XM_011525893.1:c.2305T>C, XM_011525891.2:c.2305T>C, XM_011525891.1:c.2305T>C, XM_011525895.2:c.2305T>C, XM_011525895.1:c.2305T>C, XM_011525894.2:c.2305T>C, XM_011525894.1:c.2305T>C, XM_017025685.2:c.1903T>C, XM_017025685.1:c.1903T>C, XM_011525898.2:c.2305T>C, XM_011525898.1:c.2305T>C, XM_047437437.1:c.2305T>C, XM_047437438.1:c.2305T>C, XM_047437432.1:c.2305T>C, XM_047437434.1:c.2305T>C, XM_047437436.1:c.2305T>C, XM_047437433.1:c.2305T>C, XM_047437440.1:c.2305T>C, XM_047437435.1:c.2305T>C, XM_047437457.1:c.1903T>C, XM_047437439.1:c.2305T>C, XM_047437446.1:c.2305T>C, XM_047437450.1:c.1903T>C, XM_047437453.1:c.1903T>C, XM_047437454.1:c.1903T>C, XM_047437451.1:c.1903T>C, XM_047437455.1:c.1903T>C, XM_047437441.1:c.2305T>C, XM_047437456.1:c.1903T>C, XM_047437443.1:c.2305T>C, XM_047437452.1:c.1903T>C, XM_047437458.1:c.1903T>C, XM_047437445.1:c.2305T>C, XM_047437459.1:c.1903T>C, XM_047437448.1:c.2305T>C, XM_047437447.1:c.2305T>C, XM_047437444.1:c.2305T>C, XM_047437449.1:c.2305T>C, XM_047437460.1:c.1903T>C, XM_047437463.1:c.1903T>C, XM_047437462.1:c.1903T>C, XM_047437464.1:c.1903T>C, XM_047437430.1:c.2305T>C, XM_047437442.1:c.2305T>C, XM_047437431.1:c.2305T>C, XM_047437461.1:c.1903T>C, NP_036459.1:p.Tyr769His, NP_789744.1:p.Tyr769His, XP_011524192.1:p.Tyr769His, XP_011524191.1:p.Tyr769His, XP_011524198.1:p.Tyr769His, XP_011524194.1:p.Tyr769His, XP_011524195.1:p.Tyr769His, XP_011524193.1:p.Tyr769His, XP_011524197.1:p.Tyr769His, XP_011524196.1:p.Tyr769His, XP_016881174.1:p.Tyr635His, XP_011524200.1:p.Tyr769His, XP_047293393.1:p.Tyr769His, XP_047293394.1:p.Tyr769His, XP_047293388.1:p.Tyr769His, XP_047293390.1:p.Tyr769His, XP_047293392.1:p.Tyr769His, XP_047293389.1:p.Tyr769His, XP_047293396.1:p.Tyr769His, XP_047293391.1:p.Tyr769His, XP_047293413.1:p.Tyr635His, XP_047293395.1:p.Tyr769His, XP_047293402.1:p.Tyr769His, XP_047293406.1:p.Tyr635His, XP_047293409.1:p.Tyr635His, XP_047293410.1:p.Tyr635His, XP_047293407.1:p.Tyr635His, XP_047293411.1:p.Tyr635His, XP_047293397.1:p.Tyr769His, XP_047293412.1:p.Tyr635His, XP_047293399.1:p.Tyr769His, XP_047293408.1:p.Tyr635His, XP_047293414.1:p.Tyr635His, XP_047293401.1:p.Tyr769His, XP_047293415.1:p.Tyr635His, XP_047293404.1:p.Tyr769His, XP_047293403.1:p.Tyr769His, XP_047293400.1:p.Tyr769His, XP_047293405.1:p.Tyr769His, XP_047293416.1:p.Tyr635His, XP_047293419.1:p.Tyr635His, XP_047293418.1:p.Tyr635His, XP_047293420.1:p.Tyr635His, XP_047293386.1:p.Tyr769His, XP_047293398.1:p.Tyr769His, XP_047293387.1:p.Tyr769His, XP_047293417.1:p.Tyr635His

                                  17.

                                  rs1476863555 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    18:62145936 (GRCh38)
                                    18:59813169 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:62145935:G:A
                                    Gene:
                                    PIGN (Varview)
                                    Functional Consequence:
                                    stop_gained,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.62145936G>A, NC_000018.9:g.59813169G>A, NG_033144.1:g.46121C>T, NM_012327.6:c.895C>T, NM_012327.5:c.895C>T, NM_176787.5:c.895C>T, NM_176787.4:c.895C>T, XM_011525890.2:c.895C>T, XM_011525890.1:c.895C>T, XM_011525889.2:c.895C>T, XM_011525889.1:c.895C>T, XM_011525896.2:c.895C>T, XM_011525896.1:c.895C>T, XM_011525892.2:c.895C>T, XM_011525892.1:c.895C>T, XM_011525893.2:c.895C>T, XM_011525893.1:c.895C>T, XM_011525891.2:c.895C>T, XM_011525891.1:c.895C>T, XM_011525895.2:c.895C>T, XM_011525895.1:c.895C>T, XM_011525894.2:c.895C>T, XM_011525894.1:c.895C>T, XM_017025685.2:c.895C>T, XM_017025685.1:c.895C>T, XM_011525898.2:c.895C>T, XM_011525898.1:c.895C>T, XM_047437437.1:c.895C>T, XM_047437438.1:c.895C>T, XM_047437432.1:c.895C>T, XM_047437434.1:c.895C>T, XM_047437436.1:c.895C>T, XM_047437433.1:c.895C>T, XM_047437440.1:c.895C>T, XM_047437435.1:c.895C>T, XM_047437457.1:c.895C>T, XM_047437439.1:c.895C>T, XM_047437446.1:c.895C>T, XM_047437450.1:c.895C>T, XM_047437453.1:c.895C>T, XM_047437454.1:c.895C>T, XM_047437451.1:c.895C>T, XM_047437455.1:c.895C>T, XM_047437441.1:c.895C>T, XM_047437456.1:c.895C>T, XM_047437443.1:c.895C>T, XM_047437452.1:c.895C>T, XM_047437458.1:c.895C>T, XM_047437445.1:c.895C>T, XM_047437459.1:c.895C>T, XM_047437448.1:c.895C>T, XM_047437447.1:c.895C>T, XM_047437444.1:c.895C>T, XM_047437449.1:c.895C>T, XM_047437460.1:c.895C>T, XM_047437463.1:c.895C>T, XM_047437462.1:c.895C>T, XM_047437464.1:c.895C>T, XM_047437430.1:c.895C>T, XM_047437442.1:c.895C>T, XM_047437431.1:c.895C>T, XM_047437461.1:c.895C>T, NP_036459.1:p.Gln299Ter, NP_789744.1:p.Gln299Ter, XP_011524192.1:p.Gln299Ter, XP_011524191.1:p.Gln299Ter, XP_011524198.1:p.Gln299Ter, XP_011524194.1:p.Gln299Ter, XP_011524195.1:p.Gln299Ter, XP_011524193.1:p.Gln299Ter, XP_011524197.1:p.Gln299Ter, XP_011524196.1:p.Gln299Ter, XP_016881174.1:p.Gln299Ter, XP_011524200.1:p.Gln299Ter, XP_047293393.1:p.Gln299Ter, XP_047293394.1:p.Gln299Ter, XP_047293388.1:p.Gln299Ter, XP_047293390.1:p.Gln299Ter, XP_047293392.1:p.Gln299Ter, XP_047293389.1:p.Gln299Ter, XP_047293396.1:p.Gln299Ter, XP_047293391.1:p.Gln299Ter, XP_047293413.1:p.Gln299Ter, XP_047293395.1:p.Gln299Ter, XP_047293402.1:p.Gln299Ter, XP_047293406.1:p.Gln299Ter, XP_047293409.1:p.Gln299Ter, XP_047293410.1:p.Gln299Ter, XP_047293407.1:p.Gln299Ter, XP_047293411.1:p.Gln299Ter, XP_047293397.1:p.Gln299Ter, XP_047293412.1:p.Gln299Ter, XP_047293399.1:p.Gln299Ter, XP_047293408.1:p.Gln299Ter, XP_047293414.1:p.Gln299Ter, XP_047293401.1:p.Gln299Ter, XP_047293415.1:p.Gln299Ter, XP_047293404.1:p.Gln299Ter, XP_047293403.1:p.Gln299Ter, XP_047293400.1:p.Gln299Ter, XP_047293405.1:p.Gln299Ter, XP_047293416.1:p.Gln299Ter, XP_047293419.1:p.Gln299Ter, XP_047293418.1:p.Gln299Ter, XP_047293420.1:p.Gln299Ter, XP_047293386.1:p.Gln299Ter, XP_047293398.1:p.Gln299Ter, XP_047293387.1:p.Gln299Ter, XP_047293417.1:p.Gln299Ter

                                    18.

                                    rs1475956314 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      18:62147046 (GRCh38)
                                      18:59814279 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:62147045:T:C
                                      Gene:
                                      PIGN (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000018.10:g.62147046T>C, NC_000018.9:g.59814279T>C, NG_033144.1:g.45011A>G, NM_012327.6:c.730A>G, NM_012327.5:c.730A>G, NM_176787.5:c.730A>G, NM_176787.4:c.730A>G, XM_011525890.2:c.730A>G, XM_011525890.1:c.730A>G, XM_011525889.2:c.730A>G, XM_011525889.1:c.730A>G, XM_011525896.2:c.730A>G, XM_011525896.1:c.730A>G, XM_011525892.2:c.730A>G, XM_011525892.1:c.730A>G, XM_011525893.2:c.730A>G, XM_011525893.1:c.730A>G, XM_011525891.2:c.730A>G, XM_011525891.1:c.730A>G, XM_011525895.2:c.730A>G, XM_011525895.1:c.730A>G, XM_011525894.2:c.730A>G, XM_011525894.1:c.730A>G, XM_017025685.2:c.730A>G, XM_017025685.1:c.730A>G, XM_011525898.2:c.730A>G, XM_011525898.1:c.730A>G, XM_047437437.1:c.730A>G, XM_047437438.1:c.730A>G, XM_047437432.1:c.730A>G, XM_047437434.1:c.730A>G, XM_047437436.1:c.730A>G, XM_047437433.1:c.730A>G, XM_047437440.1:c.730A>G, XM_047437435.1:c.730A>G, XM_047437457.1:c.730A>G, XM_047437439.1:c.730A>G, XM_047437446.1:c.730A>G, XM_047437450.1:c.730A>G, XM_047437453.1:c.730A>G, XM_047437454.1:c.730A>G, XM_047437451.1:c.730A>G, XM_047437455.1:c.730A>G, XM_047437441.1:c.730A>G, XM_047437456.1:c.730A>G, XM_047437443.1:c.730A>G, XM_047437452.1:c.730A>G, XM_047437458.1:c.730A>G, XM_047437445.1:c.730A>G, XM_047437459.1:c.730A>G, XM_047437448.1:c.730A>G, XM_047437447.1:c.730A>G, XM_047437444.1:c.730A>G, XM_047437449.1:c.730A>G, XM_047437460.1:c.730A>G, XM_047437463.1:c.730A>G, XM_047437462.1:c.730A>G, XM_047437464.1:c.730A>G, XM_047437430.1:c.730A>G, XM_047437442.1:c.730A>G, XM_047437431.1:c.730A>G, XM_047437461.1:c.730A>G, NP_036459.1:p.Met244Val, NP_789744.1:p.Met244Val, XP_011524192.1:p.Met244Val, XP_011524191.1:p.Met244Val, XP_011524198.1:p.Met244Val, XP_011524194.1:p.Met244Val, XP_011524195.1:p.Met244Val, XP_011524193.1:p.Met244Val, XP_011524197.1:p.Met244Val, XP_011524196.1:p.Met244Val, XP_016881174.1:p.Met244Val, XP_011524200.1:p.Met244Val, XP_047293393.1:p.Met244Val, XP_047293394.1:p.Met244Val, XP_047293388.1:p.Met244Val, XP_047293390.1:p.Met244Val, XP_047293392.1:p.Met244Val, XP_047293389.1:p.Met244Val, XP_047293396.1:p.Met244Val, XP_047293391.1:p.Met244Val, XP_047293413.1:p.Met244Val, XP_047293395.1:p.Met244Val, XP_047293402.1:p.Met244Val, XP_047293406.1:p.Met244Val, XP_047293409.1:p.Met244Val, XP_047293410.1:p.Met244Val, XP_047293407.1:p.Met244Val, XP_047293411.1:p.Met244Val, XP_047293397.1:p.Met244Val, XP_047293412.1:p.Met244Val, XP_047293399.1:p.Met244Val, XP_047293408.1:p.Met244Val, XP_047293414.1:p.Met244Val, XP_047293401.1:p.Met244Val, XP_047293415.1:p.Met244Val, XP_047293404.1:p.Met244Val, XP_047293403.1:p.Met244Val, XP_047293400.1:p.Met244Val, XP_047293405.1:p.Met244Val, XP_047293416.1:p.Met244Val, XP_047293419.1:p.Met244Val, XP_047293418.1:p.Met244Val, XP_047293420.1:p.Met244Val, XP_047293386.1:p.Met244Val, XP_047293398.1:p.Met244Val, XP_047293387.1:p.Met244Val, XP_047293417.1:p.Met244Val

                                      19.

                                      rs1470358131 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        18:62102794 (GRCh38)
                                        18:59770027 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:62102793:C:T
                                        Gene:
                                        PIGN (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.62102794C>T, NC_000018.9:g.59770027C>T, NG_033144.1:g.89263G>A, NM_012327.6:c.1968G>A, NM_012327.5:c.1968G>A, NM_176787.5:c.1968G>A, NM_176787.4:c.1968G>A, XM_011525890.2:c.1968G>A, XM_011525890.1:c.1968G>A, XM_011525889.2:c.1968G>A, XM_011525889.1:c.1968G>A, XM_011525896.2:c.1968G>A, XM_011525896.1:c.1968G>A, XM_011525892.2:c.1968G>A, XM_011525892.1:c.1968G>A, XM_011525893.2:c.1968G>A, XM_011525893.1:c.1968G>A, XM_011525891.2:c.1968G>A, XM_011525891.1:c.1968G>A, XM_011525895.2:c.1968G>A, XM_011525895.1:c.1968G>A, XM_011525894.2:c.1968G>A, XM_011525894.1:c.1968G>A, XM_017025685.2:c.1566G>A, XM_017025685.1:c.1566G>A, XM_011525898.2:c.1968G>A, XM_011525898.1:c.1968G>A, XM_047437437.1:c.1968G>A, XM_047437438.1:c.1968G>A, XM_047437432.1:c.1968G>A, XM_047437434.1:c.1968G>A, XM_047437436.1:c.1968G>A, XM_047437433.1:c.1968G>A, XM_047437440.1:c.1968G>A, XM_047437435.1:c.1968G>A, XM_047437457.1:c.1566G>A, XM_047437439.1:c.1968G>A, XM_047437446.1:c.1968G>A, XM_047437450.1:c.1566G>A, XM_047437453.1:c.1566G>A, XM_047437454.1:c.1566G>A, XM_047437451.1:c.1566G>A, XM_047437455.1:c.1566G>A, XM_047437441.1:c.1968G>A, XM_047437456.1:c.1566G>A, XM_047437443.1:c.1968G>A, XM_047437452.1:c.1566G>A, XM_047437458.1:c.1566G>A, XM_047437445.1:c.1968G>A, XM_047437459.1:c.1566G>A, XM_047437448.1:c.1968G>A, XM_047437447.1:c.1968G>A, XM_047437444.1:c.1968G>A, XM_047437449.1:c.1968G>A, XM_047437460.1:c.1566G>A, XM_047437463.1:c.1566G>A, XM_047437462.1:c.1566G>A, XM_047437464.1:c.1566G>A, XM_047437430.1:c.1968G>A, XM_047437442.1:c.1968G>A, XM_047437431.1:c.1968G>A, XM_047437461.1:c.1566G>A

                                        20.

                                        rs1468104257 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          18:62045900 (GRCh38)
                                          18:59713133 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:62045899:T:C
                                          Gene:
                                          PIGN (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.62045900T>C, NC_000018.9:g.59713133T>C, NG_033144.1:g.146157A>G, NM_012327.6:c.2752A>G, NM_012327.5:c.2752A>G, NM_176787.5:c.2752A>G, NM_176787.4:c.2752A>G, XM_011525890.2:c.2869A>G, XM_011525890.1:c.2869A>G, XM_011525889.2:c.2869A>G, XM_011525889.1:c.2869A>G, XM_011525896.2:c.2812A>G, XM_011525896.1:c.2812A>G, XM_011525892.2:c.2869A>G, XM_011525892.1:c.2869A>G, XM_011525893.2:c.2869A>G, XM_011525893.1:c.2869A>G, XM_011525891.2:c.2869A>G, XM_011525891.1:c.2869A>G, XM_011525895.2:c.2869A>G, XM_011525895.1:c.2869A>G, XM_011525894.2:c.2869A>G, XM_011525894.1:c.2869A>G, XM_017025685.2:c.2467A>G, XM_017025685.1:c.2467A>G, XM_047437437.1:c.2752A>G, XM_047437438.1:c.2752A>G, XM_047437432.1:c.2812A>G, XM_047437434.1:c.2812A>G, XM_047437436.1:c.2752A>G, XM_047437433.1:c.2812A>G, XM_047437440.1:c.2752A>G, XM_047437435.1:c.2752A>G, XM_047437457.1:c.2350A>G, XM_047437439.1:c.2752A>G, XM_047437450.1:c.2410A>G, XM_047437453.1:c.2467A>G, XM_047437454.1:c.2350A>G, XM_047437451.1:c.2467A>G, XM_047437455.1:c.2410A>G, XM_047437456.1:c.2350A>G, XM_047437452.1:c.2467A>G, XM_047437458.1:c.2350A>G, XM_047437459.1:c.2350A>G, NP_036459.1:p.Lys918Glu, NP_789744.1:p.Lys918Glu, XP_011524192.1:p.Lys957Glu, XP_011524191.1:p.Lys957Glu, XP_011524198.1:p.Lys938Glu, XP_011524194.1:p.Lys957Glu, XP_011524195.1:p.Lys957Glu, XP_011524193.1:p.Lys957Glu, XP_011524197.1:p.Lys957Glu, XP_011524196.1:p.Lys957Glu, XP_016881174.1:p.Lys823Glu, XP_047293393.1:p.Lys918Glu, XP_047293394.1:p.Lys918Glu, XP_047293388.1:p.Lys938Glu, XP_047293390.1:p.Lys938Glu, XP_047293392.1:p.Lys918Glu, XP_047293389.1:p.Lys938Glu, XP_047293396.1:p.Lys918Glu, XP_047293391.1:p.Lys918Glu, XP_047293413.1:p.Lys784Glu, XP_047293395.1:p.Lys918Glu, XP_047293406.1:p.Lys804Glu, XP_047293409.1:p.Lys823Glu, XP_047293410.1:p.Lys784Glu, XP_047293407.1:p.Lys823Glu, XP_047293411.1:p.Lys804Glu, XP_047293412.1:p.Lys784Glu, XP_047293408.1:p.Lys823Glu, XP_047293414.1:p.Lys784Glu, XP_047293415.1:p.Lys784Glu

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