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Items: 1 to 20 of 1184

1.

rs1490766411 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    11:66850071 (GRCh38)
    11:66617542 (GRCh37)
    Canonical SPDI:
    NC_000011.10:66850070:C:A,NC_000011.10:66850070:C:T
    Gene:
    PC (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=0.000008/2 (TOPMED)
    HGVS:
    NC_000011.10:g.66850071C>A, NC_000011.10:g.66850071C>T, NC_000011.9:g.66617542C>A, NC_000011.9:g.66617542C>T, NG_008319.1:g.113306G>T, NG_008319.1:g.113306G>A, NM_000920.4:c.2764G>T, NM_000920.4:c.2764G>A, NM_000920.3:c.2764G>T, NM_000920.3:c.2764G>A, NM_022172.3:c.2764G>T, NM_022172.3:c.2764G>A, NM_022172.2:c.2764G>T, NM_022172.2:c.2764G>A, NM_001040716.2:c.2764G>T, NM_001040716.2:c.2764G>A, NM_001040716.1:c.2764G>T, NM_001040716.1:c.2764G>A, XM_005274032.5:c.2764G>T, XM_005274032.5:c.2764G>A, XM_005274032.4:c.2764G>T, XM_005274032.4:c.2764G>A, XM_005274032.3:c.2764G>T, XM_005274032.3:c.2764G>A, XM_005274032.2:c.2764G>T, XM_005274032.2:c.2764G>A, XM_005274032.1:c.2764G>T, XM_005274032.1:c.2764G>A, XM_005274031.5:c.2764G>T, XM_005274031.5:c.2764G>A, XM_005274031.4:c.2764G>T, XM_005274031.4:c.2764G>A, XM_005274031.3:c.2764G>T, XM_005274031.3:c.2764G>A, XM_005274031.2:c.2764G>T, XM_005274031.2:c.2764G>A, XM_005274031.1:c.2764G>T, XM_005274031.1:c.2764G>A, XM_006718578.4:c.2764G>T, XM_006718578.4:c.2764G>A, XM_006718578.3:c.2764G>T, XM_006718578.3:c.2764G>A, XM_006718578.2:c.2764G>T, XM_006718578.2:c.2764G>A, XM_006718578.1:c.2764G>T, XM_006718578.1:c.2764G>A, XM_006718579.4:c.1243G>T, XM_006718579.4:c.1243G>A, XM_006718579.3:c.1243G>T, XM_006718579.3:c.1243G>A, XM_006718579.2:c.1243G>T, XM_006718579.2:c.1243G>A, XM_006718579.1:c.1243G>T, XM_006718579.1:c.1243G>A, XM_017017872.3:c.2764G>T, XM_017017872.3:c.2764G>A, XM_017017872.2:c.2764G>T, XM_017017872.2:c.2764G>A, XM_017017872.1:c.2764G>T, XM_017017872.1:c.2764G>A, XM_011545086.3:c.2764G>T, XM_011545086.3:c.2764G>A, XM_011545086.2:c.2764G>T, XM_011545086.2:c.2764G>A, XM_011545086.1:c.2764G>T, XM_011545086.1:c.2764G>A, XM_011545087.3:c.1468G>T, XM_011545087.3:c.1468G>A, XM_011545087.2:c.1468G>T, XM_011545087.2:c.1468G>A, XM_011545087.1:c.1468G>T, XM_011545087.1:c.1468G>A, XM_017017868.2:c.2764G>T, XM_017017868.2:c.2764G>A, XM_017017868.1:c.2764G>T, XM_017017868.1:c.2764G>A, XM_017017869.2:c.2764G>T, XM_017017869.2:c.2764G>A, XM_017017869.1:c.2764G>T, XM_017017869.1:c.2764G>A, XM_017017870.2:c.2764G>T, XM_017017870.2:c.2764G>A, XM_017017870.1:c.2764G>T, XM_017017870.1:c.2764G>A, XM_017017871.2:c.2764G>T, XM_017017871.2:c.2764G>A, XM_017017871.1:c.2764G>T, XM_017017871.1:c.2764G>A, XM_047427058.1:c.1243G>T, XM_047427058.1:c.1243G>A, NP_000911.2:p.Val922Leu, NP_000911.2:p.Val922Met, NP_071504.2:p.Val922Leu, NP_071504.2:p.Val922Met, NP_001035806.1:p.Val922Leu, NP_001035806.1:p.Val922Met, XP_005274089.1:p.Val922Leu, XP_005274089.1:p.Val922Met, XP_005274088.1:p.Val922Leu, XP_005274088.1:p.Val922Met, XP_006718641.1:p.Val922Leu, XP_006718641.1:p.Val922Met, XP_006718642.1:p.Val415Leu, XP_006718642.1:p.Val415Met, XP_016873361.1:p.Val922Leu, XP_016873361.1:p.Val922Met, XP_011543388.1:p.Val922Leu, XP_011543388.1:p.Val922Met, XP_011543389.1:p.Val490Leu, XP_011543389.1:p.Val490Met, XP_016873357.1:p.Val922Leu, XP_016873357.1:p.Val922Met, XP_016873358.1:p.Val922Leu, XP_016873358.1:p.Val922Met, XP_016873359.1:p.Val922Leu, XP_016873359.1:p.Val922Met, XP_016873360.1:p.Val922Leu, XP_016873360.1:p.Val922Met, XP_047283014.1:p.Val415Leu, XP_047283014.1:p.Val415Met

    2.

    rs1488166696 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:66850699 (GRCh38)
      11:66618170 (GRCh37)
      Canonical SPDI:
      NC_000011.10:66850698:A:G
      Gene:
      PC (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000011.10:g.66850699A>G, NC_000011.9:g.66618170A>G, NG_008319.1:g.112678T>C, NM_000920.4:c.2448T>C, NM_000920.3:c.2448T>C, NM_022172.3:c.2448T>C, NM_022172.2:c.2448T>C, NM_001040716.2:c.2448T>C, NM_001040716.1:c.2448T>C, XM_005274032.5:c.2448T>C, XM_005274032.4:c.2448T>C, XM_005274032.3:c.2448T>C, XM_005274032.2:c.2448T>C, XM_005274032.1:c.2448T>C, XM_005274031.5:c.2448T>C, XM_005274031.4:c.2448T>C, XM_005274031.3:c.2448T>C, XM_005274031.2:c.2448T>C, XM_005274031.1:c.2448T>C, XM_006718578.4:c.2448T>C, XM_006718578.3:c.2448T>C, XM_006718578.2:c.2448T>C, XM_006718578.1:c.2448T>C, XM_006718579.4:c.927T>C, XM_006718579.3:c.927T>C, XM_006718579.2:c.927T>C, XM_006718579.1:c.927T>C, XM_017017872.3:c.2448T>C, XM_017017872.2:c.2448T>C, XM_017017872.1:c.2448T>C, XM_011545086.3:c.2448T>C, XM_011545086.2:c.2448T>C, XM_011545086.1:c.2448T>C, XM_011545087.3:c.1152T>C, XM_011545087.2:c.1152T>C, XM_011545087.1:c.1152T>C, XM_017017868.2:c.2448T>C, XM_017017868.1:c.2448T>C, XM_017017869.2:c.2448T>C, XM_017017869.1:c.2448T>C, XM_017017870.2:c.2448T>C, XM_017017870.1:c.2448T>C, XM_017017871.2:c.2448T>C, XM_017017871.1:c.2448T>C, XM_047427058.1:c.927T>C

      3.

      rs1487774185 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:66850455 (GRCh38)
        11:66617926 (GRCh37)
        Canonical SPDI:
        NC_000011.10:66850454:A:G
        Gene:
        PC (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.66850455A>G, NC_000011.9:g.66617926A>G, NG_008319.1:g.112922T>C, NM_000920.4:c.2483T>C, NM_000920.3:c.2483T>C, NM_022172.3:c.2483T>C, NM_022172.2:c.2483T>C, NM_001040716.2:c.2483T>C, NM_001040716.1:c.2483T>C, XM_005274032.5:c.2483T>C, XM_005274032.4:c.2483T>C, XM_005274032.3:c.2483T>C, XM_005274032.2:c.2483T>C, XM_005274032.1:c.2483T>C, XM_005274031.5:c.2483T>C, XM_005274031.4:c.2483T>C, XM_005274031.3:c.2483T>C, XM_005274031.2:c.2483T>C, XM_005274031.1:c.2483T>C, XM_006718578.4:c.2483T>C, XM_006718578.3:c.2483T>C, XM_006718578.2:c.2483T>C, XM_006718578.1:c.2483T>C, XM_006718579.4:c.962T>C, XM_006718579.3:c.962T>C, XM_006718579.2:c.962T>C, XM_006718579.1:c.962T>C, XM_017017872.3:c.2483T>C, XM_017017872.2:c.2483T>C, XM_017017872.1:c.2483T>C, XM_011545086.3:c.2483T>C, XM_011545086.2:c.2483T>C, XM_011545086.1:c.2483T>C, XM_011545087.3:c.1187T>C, XM_011545087.2:c.1187T>C, XM_011545087.1:c.1187T>C, XM_017017868.2:c.2483T>C, XM_017017868.1:c.2483T>C, XM_017017869.2:c.2483T>C, XM_017017869.1:c.2483T>C, XM_017017870.2:c.2483T>C, XM_017017870.1:c.2483T>C, XM_017017871.2:c.2483T>C, XM_017017871.1:c.2483T>C, XM_047427058.1:c.962T>C, NP_000911.2:p.Met828Thr, NP_071504.2:p.Met828Thr, NP_001035806.1:p.Met828Thr, XP_005274089.1:p.Met828Thr, XP_005274088.1:p.Met828Thr, XP_006718641.1:p.Met828Thr, XP_006718642.1:p.Met321Thr, XP_016873361.1:p.Met828Thr, XP_011543388.1:p.Met828Thr, XP_011543389.1:p.Met396Thr, XP_016873357.1:p.Met828Thr, XP_016873358.1:p.Met828Thr, XP_016873359.1:p.Met828Thr, XP_016873360.1:p.Met828Thr, XP_047283014.1:p.Met321Thr

        4.

        rs1487772807 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          11:66849989 (GRCh38)
          11:66617460 (GRCh37)
          Canonical SPDI:
          NC_000011.10:66849988:T:C,NC_000011.10:66849988:T:G
          Gene:
          PC (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000011.10:g.66849989T>C, NC_000011.10:g.66849989T>G, NC_000011.9:g.66617460T>C, NC_000011.9:g.66617460T>G, NG_008319.1:g.113388A>G, NG_008319.1:g.113388A>C, NM_000920.4:c.2846A>G, NM_000920.4:c.2846A>C, NM_000920.3:c.2846A>G, NM_000920.3:c.2846A>C, NM_022172.3:c.2846A>G, NM_022172.3:c.2846A>C, NM_022172.2:c.2846A>G, NM_022172.2:c.2846A>C, NM_001040716.2:c.2846A>G, NM_001040716.2:c.2846A>C, NM_001040716.1:c.2846A>G, NM_001040716.1:c.2846A>C, XM_005274032.5:c.2846A>G, XM_005274032.5:c.2846A>C, XM_005274032.4:c.2846A>G, XM_005274032.4:c.2846A>C, XM_005274032.3:c.2846A>G, XM_005274032.3:c.2846A>C, XM_005274032.2:c.2846A>G, XM_005274032.2:c.2846A>C, XM_005274032.1:c.2846A>G, XM_005274032.1:c.2846A>C, XM_005274031.5:c.2846A>G, XM_005274031.5:c.2846A>C, XM_005274031.4:c.2846A>G, XM_005274031.4:c.2846A>C, XM_005274031.3:c.2846A>G, XM_005274031.3:c.2846A>C, XM_005274031.2:c.2846A>G, XM_005274031.2:c.2846A>C, XM_005274031.1:c.2846A>G, XM_005274031.1:c.2846A>C, XM_006718578.4:c.2846A>G, XM_006718578.4:c.2846A>C, XM_006718578.3:c.2846A>G, XM_006718578.3:c.2846A>C, XM_006718578.2:c.2846A>G, XM_006718578.2:c.2846A>C, XM_006718578.1:c.2846A>G, XM_006718578.1:c.2846A>C, XM_006718579.4:c.1325A>G, XM_006718579.4:c.1325A>C, XM_006718579.3:c.1325A>G, XM_006718579.3:c.1325A>C, XM_006718579.2:c.1325A>G, XM_006718579.2:c.1325A>C, XM_006718579.1:c.1325A>G, XM_006718579.1:c.1325A>C, XM_017017872.3:c.2846A>G, XM_017017872.3:c.2846A>C, XM_017017872.2:c.2846A>G, XM_017017872.2:c.2846A>C, XM_017017872.1:c.2846A>G, XM_017017872.1:c.2846A>C, XM_011545086.3:c.2846A>G, XM_011545086.3:c.2846A>C, XM_011545086.2:c.2846A>G, XM_011545086.2:c.2846A>C, XM_011545086.1:c.2846A>G, XM_011545086.1:c.2846A>C, XM_011545087.3:c.1550A>G, XM_011545087.3:c.1550A>C, XM_011545087.2:c.1550A>G, XM_011545087.2:c.1550A>C, XM_011545087.1:c.1550A>G, XM_011545087.1:c.1550A>C, XM_017017868.2:c.2846A>G, XM_017017868.2:c.2846A>C, XM_017017868.1:c.2846A>G, XM_017017868.1:c.2846A>C, XM_017017869.2:c.2846A>G, XM_017017869.2:c.2846A>C, XM_017017869.1:c.2846A>G, XM_017017869.1:c.2846A>C, XM_017017870.2:c.2846A>G, XM_017017870.2:c.2846A>C, XM_017017870.1:c.2846A>G, XM_017017870.1:c.2846A>C, XM_017017871.2:c.2846A>G, XM_017017871.2:c.2846A>C, XM_017017871.1:c.2846A>G, XM_017017871.1:c.2846A>C, XM_047427058.1:c.1325A>G, XM_047427058.1:c.1325A>C, NP_000911.2:p.Gln949Arg, NP_000911.2:p.Gln949Pro, NP_071504.2:p.Gln949Arg, NP_071504.2:p.Gln949Pro, NP_001035806.1:p.Gln949Arg, NP_001035806.1:p.Gln949Pro, XP_005274089.1:p.Gln949Arg, XP_005274089.1:p.Gln949Pro, XP_005274088.1:p.Gln949Arg, XP_005274088.1:p.Gln949Pro, XP_006718641.1:p.Gln949Arg, XP_006718641.1:p.Gln949Pro, XP_006718642.1:p.Gln442Arg, XP_006718642.1:p.Gln442Pro, XP_016873361.1:p.Gln949Arg, XP_016873361.1:p.Gln949Pro, XP_011543388.1:p.Gln949Arg, XP_011543388.1:p.Gln949Pro, XP_011543389.1:p.Gln517Arg, XP_011543389.1:p.Gln517Pro, XP_016873357.1:p.Gln949Arg, XP_016873357.1:p.Gln949Pro, XP_016873358.1:p.Gln949Arg, XP_016873358.1:p.Gln949Pro, XP_016873359.1:p.Gln949Arg, XP_016873359.1:p.Gln949Pro, XP_016873360.1:p.Gln949Arg, XP_016873360.1:p.Gln949Pro, XP_047283014.1:p.Gln442Arg, XP_047283014.1:p.Gln442Pro

          5.

          rs1487683285 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            11:66849719 (GRCh38)
            11:66617190 (GRCh37)
            Canonical SPDI:
            NC_000011.10:66849718:G:A,NC_000011.10:66849718:G:T
            Gene:
            PC (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,stop_gained
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0./0 (GnomAD)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000814/14 (TOMMO)
            HGVS:
            NC_000011.10:g.66849719G>A, NC_000011.10:g.66849719G>T, NC_000011.9:g.66617190G>A, NC_000011.9:g.66617190G>T, NG_008319.1:g.113658C>T, NG_008319.1:g.113658C>A, NM_000920.4:c.3039C>T, NM_000920.4:c.3039C>A, NM_000920.3:c.3039C>T, NM_000920.3:c.3039C>A, NM_022172.3:c.3039C>T, NM_022172.3:c.3039C>A, NM_022172.2:c.3039C>T, NM_022172.2:c.3039C>A, NM_001040716.2:c.3039C>T, NM_001040716.2:c.3039C>A, NM_001040716.1:c.3039C>T, NM_001040716.1:c.3039C>A, XM_005274032.5:c.3039C>T, XM_005274032.5:c.3039C>A, XM_005274032.4:c.3039C>T, XM_005274032.4:c.3039C>A, XM_005274032.3:c.3039C>T, XM_005274032.3:c.3039C>A, XM_005274032.2:c.3039C>T, XM_005274032.2:c.3039C>A, XM_005274032.1:c.3039C>T, XM_005274032.1:c.3039C>A, XM_005274031.5:c.3039C>T, XM_005274031.5:c.3039C>A, XM_005274031.4:c.3039C>T, XM_005274031.4:c.3039C>A, XM_005274031.3:c.3039C>T, XM_005274031.3:c.3039C>A, XM_005274031.2:c.3039C>T, XM_005274031.2:c.3039C>A, XM_005274031.1:c.3039C>T, XM_005274031.1:c.3039C>A, XM_006718578.4:c.3039C>T, XM_006718578.4:c.3039C>A, XM_006718578.3:c.3039C>T, XM_006718578.3:c.3039C>A, XM_006718578.2:c.3039C>T, XM_006718578.2:c.3039C>A, XM_006718578.1:c.3039C>T, XM_006718578.1:c.3039C>A, XM_006718579.4:c.1518C>T, XM_006718579.4:c.1518C>A, XM_006718579.3:c.1518C>T, XM_006718579.3:c.1518C>A, XM_006718579.2:c.1518C>T, XM_006718579.2:c.1518C>A, XM_006718579.1:c.1518C>T, XM_006718579.1:c.1518C>A, XM_017017872.3:c.3039C>T, XM_017017872.3:c.3039C>A, XM_017017872.2:c.3039C>T, XM_017017872.2:c.3039C>A, XM_017017872.1:c.3039C>T, XM_017017872.1:c.3039C>A, XM_011545086.3:c.3039C>T, XM_011545086.3:c.3039C>A, XM_011545086.2:c.3039C>T, XM_011545086.2:c.3039C>A, XM_011545086.1:c.3039C>T, XM_011545086.1:c.3039C>A, XM_011545087.3:c.1743C>T, XM_011545087.3:c.1743C>A, XM_011545087.2:c.1743C>T, XM_011545087.2:c.1743C>A, XM_011545087.1:c.1743C>T, XM_011545087.1:c.1743C>A, XM_017017868.2:c.3039C>T, XM_017017868.2:c.3039C>A, XM_017017868.1:c.3039C>T, XM_017017868.1:c.3039C>A, XM_017017869.2:c.3039C>T, XM_017017869.2:c.3039C>A, XM_017017869.1:c.3039C>T, XM_017017869.1:c.3039C>A, XM_017017870.2:c.3039C>T, XM_017017870.2:c.3039C>A, XM_017017870.1:c.3039C>T, XM_017017870.1:c.3039C>A, XM_017017871.2:c.3039C>T, XM_017017871.2:c.3039C>A, XM_017017871.1:c.3039C>T, XM_017017871.1:c.3039C>A, XM_047427058.1:c.1518C>T, XM_047427058.1:c.1518C>A, NP_000911.2:p.Tyr1013Ter, NP_071504.2:p.Tyr1013Ter, NP_001035806.1:p.Tyr1013Ter, XP_005274089.1:p.Tyr1013Ter, XP_005274088.1:p.Tyr1013Ter, XP_006718641.1:p.Tyr1013Ter, XP_006718642.1:p.Tyr506Ter, XP_016873361.1:p.Tyr1013Ter, XP_011543388.1:p.Tyr1013Ter, XP_011543389.1:p.Tyr581Ter, XP_016873357.1:p.Tyr1013Ter, XP_016873358.1:p.Tyr1013Ter, XP_016873359.1:p.Tyr1013Ter, XP_016873360.1:p.Tyr1013Ter, XP_047283014.1:p.Tyr506Ter

            6.

            rs1487446205 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              11:66868955 (GRCh38)
              11:66636426 (GRCh37)
              Canonical SPDI:
              NC_000011.10:66868954:C:A,NC_000011.10:66868954:C:T
              Gene:
              PC (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
              Clinical significance:
              pathogenic
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000036/5 (GnomAD)
              T=0.000038/10 (TOPMED)
              HGVS:
              NC_000011.10:g.66868955C>A, NC_000011.10:g.66868955C>T, NC_000011.9:g.66636426C>A, NC_000011.9:g.66636426C>T, NG_008319.1:g.94422G>T, NG_008319.1:g.94422G>A, NM_000920.4:c.913G>T, NM_000920.4:c.913G>A, NM_000920.3:c.913G>T, NM_000920.3:c.913G>A, NM_022172.3:c.913G>T, NM_022172.3:c.913G>A, NM_022172.2:c.913G>T, NM_022172.2:c.913G>A, NM_001040716.2:c.913G>T, NM_001040716.2:c.913G>A, NM_001040716.1:c.913G>T, NM_001040716.1:c.913G>A, XM_005274032.5:c.913G>T, XM_005274032.5:c.913G>A, XM_005274032.4:c.913G>T, XM_005274032.4:c.913G>A, XM_005274032.3:c.913G>T, XM_005274032.3:c.913G>A, XM_005274032.2:c.913G>T, XM_005274032.2:c.913G>A, XM_005274032.1:c.913G>T, XM_005274032.1:c.913G>A, XM_005274031.5:c.913G>T, XM_005274031.5:c.913G>A, XM_005274031.4:c.913G>T, XM_005274031.4:c.913G>A, XM_005274031.3:c.913G>T, XM_005274031.3:c.913G>A, XM_005274031.2:c.913G>T, XM_005274031.2:c.913G>A, XM_005274031.1:c.913G>T, XM_005274031.1:c.913G>A, XM_006718578.4:c.913G>T, XM_006718578.4:c.913G>A, XM_006718578.3:c.913G>T, XM_006718578.3:c.913G>A, XM_006718578.2:c.913G>T, XM_006718578.2:c.913G>A, XM_006718578.1:c.913G>T, XM_006718578.1:c.913G>A, XM_017017872.3:c.913G>T, XM_017017872.3:c.913G>A, XM_017017872.2:c.913G>T, XM_017017872.2:c.913G>A, XM_017017872.1:c.913G>T, XM_017017872.1:c.913G>A, XM_011545086.3:c.913G>T, XM_011545086.3:c.913G>A, XM_011545086.2:c.913G>T, XM_011545086.2:c.913G>A, XM_011545086.1:c.913G>T, XM_011545086.1:c.913G>A, XM_017017868.2:c.913G>T, XM_017017868.2:c.913G>A, XM_017017868.1:c.913G>T, XM_017017868.1:c.913G>A, XM_017017869.2:c.913G>T, XM_017017869.2:c.913G>A, XM_017017869.1:c.913G>T, XM_017017869.1:c.913G>A, XM_017017870.2:c.913G>T, XM_017017870.2:c.913G>A, XM_017017870.1:c.913G>T, XM_017017870.1:c.913G>A, XM_017017871.2:c.913G>T, XM_017017871.2:c.913G>A, XM_017017871.1:c.913G>T, XM_017017871.1:c.913G>A, NP_000911.2:p.Glu305Ter, NP_000911.2:p.Glu305Lys, NP_071504.2:p.Glu305Ter, NP_071504.2:p.Glu305Lys, NP_001035806.1:p.Glu305Ter, NP_001035806.1:p.Glu305Lys, XP_005274089.1:p.Glu305Ter, XP_005274089.1:p.Glu305Lys, XP_005274088.1:p.Glu305Ter, XP_005274088.1:p.Glu305Lys, XP_006718641.1:p.Glu305Ter, XP_006718641.1:p.Glu305Lys, XP_016873361.1:p.Glu305Ter, XP_016873361.1:p.Glu305Lys, XP_011543388.1:p.Glu305Ter, XP_011543388.1:p.Glu305Lys, XP_016873357.1:p.Glu305Ter, XP_016873357.1:p.Glu305Lys, XP_016873358.1:p.Glu305Ter, XP_016873358.1:p.Glu305Lys, XP_016873359.1:p.Glu305Ter, XP_016873359.1:p.Glu305Lys, XP_016873360.1:p.Glu305Ter, XP_016873360.1:p.Glu305Lys

              7.

              rs1486958034 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:66871723 (GRCh38)
                11:66639194 (GRCh37)
                Canonical SPDI:
                NC_000011.10:66871722:G:A
                Gene:
                PC (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000006/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.66871723G>A, NC_000011.9:g.66639194G>A, NG_008319.1:g.91654C>T, NM_000920.4:c.285C>T, NM_000920.3:c.285C>T, NM_022172.3:c.285C>T, NM_022172.2:c.285C>T, NM_001040716.2:c.285C>T, NM_001040716.1:c.285C>T, XM_005274032.5:c.285C>T, XM_005274032.4:c.285C>T, XM_005274032.3:c.285C>T, XM_005274032.2:c.285C>T, XM_005274032.1:c.285C>T, XM_005274031.5:c.285C>T, XM_005274031.4:c.285C>T, XM_005274031.3:c.285C>T, XM_005274031.2:c.285C>T, XM_005274031.1:c.285C>T, XM_006718578.4:c.285C>T, XM_006718578.3:c.285C>T, XM_006718578.2:c.285C>T, XM_006718578.1:c.285C>T, XM_017017872.3:c.285C>T, XM_017017872.2:c.285C>T, XM_017017872.1:c.285C>T, XM_011545086.3:c.285C>T, XM_011545086.2:c.285C>T, XM_011545086.1:c.285C>T, XM_017017868.2:c.285C>T, XM_017017868.1:c.285C>T, XM_017017869.2:c.285C>T, XM_017017869.1:c.285C>T, XM_017017870.2:c.285C>T, XM_017017870.1:c.285C>T, XM_017017871.2:c.285C>T, XM_017017871.1:c.285C>T

                8.

                rs1486208353 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  11:66871785 (GRCh38)
                  11:66639256 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:66871784:T:A
                  Gene:
                  PC (Varview)
                  Functional Consequence:
                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.66871785T>A, NC_000011.9:g.66639256T>A, NG_008319.1:g.91592A>T, NM_000920.4:c.223A>T, NM_000920.3:c.223A>T, NM_022172.3:c.223A>T, NM_022172.2:c.223A>T, NM_001040716.2:c.223A>T, NM_001040716.1:c.223A>T, XM_005274032.5:c.223A>T, XM_005274032.4:c.223A>T, XM_005274032.3:c.223A>T, XM_005274032.2:c.223A>T, XM_005274032.1:c.223A>T, XM_005274031.5:c.223A>T, XM_005274031.4:c.223A>T, XM_005274031.3:c.223A>T, XM_005274031.2:c.223A>T, XM_005274031.1:c.223A>T, XM_006718578.4:c.223A>T, XM_006718578.3:c.223A>T, XM_006718578.2:c.223A>T, XM_006718578.1:c.223A>T, XM_017017872.3:c.223A>T, XM_017017872.2:c.223A>T, XM_017017872.1:c.223A>T, XM_011545086.3:c.223A>T, XM_011545086.2:c.223A>T, XM_011545086.1:c.223A>T, XM_017017868.2:c.223A>T, XM_017017868.1:c.223A>T, XM_017017869.2:c.223A>T, XM_017017869.1:c.223A>T, XM_017017870.2:c.223A>T, XM_017017870.1:c.223A>T, XM_017017871.2:c.223A>T, XM_017017871.1:c.223A>T, NP_000911.2:p.Met75Leu, NP_071504.2:p.Met75Leu, NP_001035806.1:p.Met75Leu, XP_005274089.1:p.Met75Leu, XP_005274088.1:p.Met75Leu, XP_006718641.1:p.Met75Leu, XP_016873361.1:p.Met75Leu, XP_011543388.1:p.Met75Leu, XP_016873357.1:p.Met75Leu, XP_016873358.1:p.Met75Leu, XP_016873359.1:p.Met75Leu, XP_016873360.1:p.Met75Leu

                  9.

                  rs1484456027 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:66870410 (GRCh38)
                    11:66637881 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:66870409:G:A
                    Gene:
                    PC (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000051/1 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000011.10:g.66870410G>A, NC_000011.9:g.66637881G>A, NG_008319.1:g.92967C>T, NM_000920.4:c.795C>T, NM_000920.3:c.795C>T, NM_022172.3:c.795C>T, NM_022172.2:c.795C>T, NM_001040716.2:c.795C>T, NM_001040716.1:c.795C>T, XM_005274032.5:c.795C>T, XM_005274032.4:c.795C>T, XM_005274032.3:c.795C>T, XM_005274032.2:c.795C>T, XM_005274032.1:c.795C>T, XM_005274031.5:c.795C>T, XM_005274031.4:c.795C>T, XM_005274031.3:c.795C>T, XM_005274031.2:c.795C>T, XM_005274031.1:c.795C>T, XM_006718578.4:c.795C>T, XM_006718578.3:c.795C>T, XM_006718578.2:c.795C>T, XM_006718578.1:c.795C>T, XM_017017872.3:c.795C>T, XM_017017872.2:c.795C>T, XM_017017872.1:c.795C>T, XM_011545086.3:c.795C>T, XM_011545086.2:c.795C>T, XM_011545086.1:c.795C>T, XM_017017868.2:c.795C>T, XM_017017868.1:c.795C>T, XM_017017869.2:c.795C>T, XM_017017869.1:c.795C>T, XM_017017870.2:c.795C>T, XM_017017870.1:c.795C>T, XM_017017871.2:c.795C>T, XM_017017871.1:c.795C>T

                    10.

                    rs1482845179 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CG>- [Show Flanks]
                      Chromosome:
                      11:66866222 (GRCh38)
                      11:66633693 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:66866216:GCGCGCG:GCGCG
                      Gene:
                      PC (Varview)
                      Functional Consequence:
                      frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Clinical significance:
                      likely-pathogenic
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GCGCG=0./0 (ALFA)
                      HGVS:
                      NC_000011.10:g.66866218CG[2], NC_000011.9:g.66633689CG[2], NG_008319.1:g.97155GC[2], NM_000920.4:c.1154_1155del, NM_000920.3:c.1154_1155del, NM_022172.3:c.1154_1155del, NM_022172.2:c.1154_1155del, NM_001040716.2:c.1154_1155del, NM_001040716.1:c.1154_1155del, XM_005274032.5:c.1154_1155del, XM_005274032.4:c.1154_1155del, XM_005274032.3:c.1154_1155del, XM_005274032.2:c.1154_1155del, XM_005274032.1:c.1154_1155del, XM_005274031.5:c.1154_1155del, XM_005274031.4:c.1154_1155del, XM_005274031.3:c.1154_1155del, XM_005274031.2:c.1154_1155del, XM_005274031.1:c.1154_1155del, XM_006718578.4:c.1154_1155del, XM_006718578.3:c.1154_1155del, XM_006718578.2:c.1154_1155del, XM_006718578.1:c.1154_1155del, XM_017017872.3:c.1154_1155del, XM_017017872.2:c.1154_1155del, XM_017017872.1:c.1154_1155del, XM_011545086.3:c.1154_1155del, XM_011545086.2:c.1154_1155del, XM_011545086.1:c.1154_1155del, XM_017017868.2:c.1154_1155del, XM_017017868.1:c.1154_1155del, XM_017017869.2:c.1154_1155del, XM_017017869.1:c.1154_1155del, XM_017017870.2:c.1154_1155del, XM_017017870.1:c.1154_1155del, XM_017017871.2:c.1154_1155del, XM_017017871.1:c.1154_1155del, NP_000911.2:p.Arg385fs, NP_071504.2:p.Arg385fs, NP_001035806.1:p.Arg385fs, XP_005274089.1:p.Arg385fs, XP_005274088.1:p.Arg385fs, XP_006718641.1:p.Arg385fs, XP_016873361.1:p.Arg385fs, XP_011543388.1:p.Arg385fs, XP_016873357.1:p.Arg385fs, XP_016873358.1:p.Arg385fs, XP_016873359.1:p.Arg385fs, XP_016873360.1:p.Arg385fs

                      11.

                      rs1481958835 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:66849982 (GRCh38)
                        11:66617453 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:66849981:G:A
                        Gene:
                        PC (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        HGVS:
                        NC_000011.10:g.66849982G>A, NC_000011.9:g.66617453G>A, NG_008319.1:g.113395C>T, NM_000920.4:c.2853C>T, NM_000920.3:c.2853C>T, NM_022172.3:c.2853C>T, NM_022172.2:c.2853C>T, NM_001040716.2:c.2853C>T, NM_001040716.1:c.2853C>T, XM_005274032.5:c.2853C>T, XM_005274032.4:c.2853C>T, XM_005274032.3:c.2853C>T, XM_005274032.2:c.2853C>T, XM_005274032.1:c.2853C>T, XM_005274031.5:c.2853C>T, XM_005274031.4:c.2853C>T, XM_005274031.3:c.2853C>T, XM_005274031.2:c.2853C>T, XM_005274031.1:c.2853C>T, XM_006718578.4:c.2853C>T, XM_006718578.3:c.2853C>T, XM_006718578.2:c.2853C>T, XM_006718578.1:c.2853C>T, XM_006718579.4:c.1332C>T, XM_006718579.3:c.1332C>T, XM_006718579.2:c.1332C>T, XM_006718579.1:c.1332C>T, XM_017017872.3:c.2853C>T, XM_017017872.2:c.2853C>T, XM_017017872.1:c.2853C>T, XM_011545086.3:c.2853C>T, XM_011545086.2:c.2853C>T, XM_011545086.1:c.2853C>T, XM_011545087.3:c.1557C>T, XM_011545087.2:c.1557C>T, XM_011545087.1:c.1557C>T, XM_017017868.2:c.2853C>T, XM_017017868.1:c.2853C>T, XM_017017869.2:c.2853C>T, XM_017017869.1:c.2853C>T, XM_017017870.2:c.2853C>T, XM_017017870.1:c.2853C>T, XM_017017871.2:c.2853C>T, XM_017017871.1:c.2853C>T, XM_047427058.1:c.1332C>T

                        12.

                        rs1481927736 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          11:66850771 (GRCh38)
                          11:66618242 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:66850770:A:T
                          Gene:
                          PC (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.66850771A>T, NC_000011.9:g.66618242A>T, NG_008319.1:g.112606T>A, NM_000920.4:c.2376T>A, NM_000920.3:c.2376T>A, NM_022172.3:c.2376T>A, NM_022172.2:c.2376T>A, NM_001040716.2:c.2376T>A, NM_001040716.1:c.2376T>A, XM_005274032.5:c.2376T>A, XM_005274032.4:c.2376T>A, XM_005274032.3:c.2376T>A, XM_005274032.2:c.2376T>A, XM_005274032.1:c.2376T>A, XM_005274031.5:c.2376T>A, XM_005274031.4:c.2376T>A, XM_005274031.3:c.2376T>A, XM_005274031.2:c.2376T>A, XM_005274031.1:c.2376T>A, XM_006718578.4:c.2376T>A, XM_006718578.3:c.2376T>A, XM_006718578.2:c.2376T>A, XM_006718578.1:c.2376T>A, XM_006718579.4:c.855T>A, XM_006718579.3:c.855T>A, XM_006718579.2:c.855T>A, XM_006718579.1:c.855T>A, XM_017017872.3:c.2376T>A, XM_017017872.2:c.2376T>A, XM_017017872.1:c.2376T>A, XM_011545086.3:c.2376T>A, XM_011545086.2:c.2376T>A, XM_011545086.1:c.2376T>A, XM_011545087.3:c.1080T>A, XM_011545087.2:c.1080T>A, XM_011545087.1:c.1080T>A, XM_017017868.2:c.2376T>A, XM_017017868.1:c.2376T>A, XM_017017869.2:c.2376T>A, XM_017017869.1:c.2376T>A, XM_017017870.2:c.2376T>A, XM_017017870.1:c.2376T>A, XM_017017871.2:c.2376T>A, XM_017017871.1:c.2376T>A, XM_047427058.1:c.855T>A, NP_000911.2:p.Asp792Glu, NP_071504.2:p.Asp792Glu, NP_001035806.1:p.Asp792Glu, XP_005274089.1:p.Asp792Glu, XP_005274088.1:p.Asp792Glu, XP_006718641.1:p.Asp792Glu, XP_006718642.1:p.Asp285Glu, XP_016873361.1:p.Asp792Glu, XP_011543388.1:p.Asp792Glu, XP_011543389.1:p.Asp360Glu, XP_016873357.1:p.Asp792Glu, XP_016873358.1:p.Asp792Glu, XP_016873359.1:p.Asp792Glu, XP_016873360.1:p.Asp792Glu, XP_047283014.1:p.Asp285Glu

                          13.

                          rs1480955152 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            11:66868901 (GRCh38)
                            11:66636372 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:66868900:T:G
                            Gene:
                            PC (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            NC_000011.10:g.66868901T>G, NC_000011.9:g.66636372T>G, NG_008319.1:g.94476A>C, NM_000920.4:c.967A>C, NM_000920.3:c.967A>C, NM_022172.3:c.967A>C, NM_022172.2:c.967A>C, NM_001040716.2:c.967A>C, NM_001040716.1:c.967A>C, XM_005274032.5:c.967A>C, XM_005274032.4:c.967A>C, XM_005274032.3:c.967A>C, XM_005274032.2:c.967A>C, XM_005274032.1:c.967A>C, XM_005274031.5:c.967A>C, XM_005274031.4:c.967A>C, XM_005274031.3:c.967A>C, XM_005274031.2:c.967A>C, XM_005274031.1:c.967A>C, XM_006718578.4:c.967A>C, XM_006718578.3:c.967A>C, XM_006718578.2:c.967A>C, XM_006718578.1:c.967A>C, XM_017017872.3:c.967A>C, XM_017017872.2:c.967A>C, XM_017017872.1:c.967A>C, XM_011545086.3:c.967A>C, XM_011545086.2:c.967A>C, XM_011545086.1:c.967A>C, XM_017017868.2:c.967A>C, XM_017017868.1:c.967A>C, XM_017017869.2:c.967A>C, XM_017017869.1:c.967A>C, XM_017017870.2:c.967A>C, XM_017017870.1:c.967A>C, XM_017017871.2:c.967A>C, XM_017017871.1:c.967A>C, NP_000911.2:p.Ile323Leu, NP_071504.2:p.Ile323Leu, NP_001035806.1:p.Ile323Leu, XP_005274089.1:p.Ile323Leu, XP_005274088.1:p.Ile323Leu, XP_006718641.1:p.Ile323Leu, XP_016873361.1:p.Ile323Leu, XP_011543388.1:p.Ile323Leu, XP_016873357.1:p.Ile323Leu, XP_016873358.1:p.Ile323Leu, XP_016873359.1:p.Ile323Leu, XP_016873360.1:p.Ile323Leu

                            14.

                            rs1480573153 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:66851054 (GRCh38)
                              11:66618525 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:66851053:T:C
                              Gene:
                              PC (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000011/3 (TOPMED)
                              C=0.000012/3 (GnomAD_exomes)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000011.10:g.66851054T>C, NC_000011.9:g.66618525T>C, NG_008319.1:g.112323A>G, NM_000920.4:c.2209A>G, NM_000920.3:c.2209A>G, NM_022172.3:c.2209A>G, NM_022172.2:c.2209A>G, NM_001040716.2:c.2209A>G, NM_001040716.1:c.2209A>G, XM_005274032.5:c.2209A>G, XM_005274032.4:c.2209A>G, XM_005274032.3:c.2209A>G, XM_005274032.2:c.2209A>G, XM_005274032.1:c.2209A>G, XM_005274031.5:c.2209A>G, XM_005274031.4:c.2209A>G, XM_005274031.3:c.2209A>G, XM_005274031.2:c.2209A>G, XM_005274031.1:c.2209A>G, XM_006718578.4:c.2209A>G, XM_006718578.3:c.2209A>G, XM_006718578.2:c.2209A>G, XM_006718578.1:c.2209A>G, XM_006718579.4:c.688A>G, XM_006718579.3:c.688A>G, XM_006718579.2:c.688A>G, XM_006718579.1:c.688A>G, XM_017017872.3:c.2209A>G, XM_017017872.2:c.2209A>G, XM_017017872.1:c.2209A>G, XM_011545086.3:c.2209A>G, XM_011545086.2:c.2209A>G, XM_011545086.1:c.2209A>G, XM_011545087.3:c.913A>G, XM_011545087.2:c.913A>G, XM_011545087.1:c.913A>G, XM_017017868.2:c.2209A>G, XM_017017868.1:c.2209A>G, XM_017017869.2:c.2209A>G, XM_017017869.1:c.2209A>G, XM_017017870.2:c.2209A>G, XM_017017870.1:c.2209A>G, XM_017017871.2:c.2209A>G, XM_017017871.1:c.2209A>G, XM_047427058.1:c.688A>G, NP_000911.2:p.Ile737Val, NP_071504.2:p.Ile737Val, NP_001035806.1:p.Ile737Val, XP_005274089.1:p.Ile737Val, XP_005274088.1:p.Ile737Val, XP_006718641.1:p.Ile737Val, XP_006718642.1:p.Ile230Val, XP_016873361.1:p.Ile737Val, XP_011543388.1:p.Ile737Val, XP_011543389.1:p.Ile305Val, XP_016873357.1:p.Ile737Val, XP_016873358.1:p.Ile737Val, XP_016873359.1:p.Ile737Val, XP_016873360.1:p.Ile737Val, XP_047283014.1:p.Ile230Val

                              15.

                              rs1478432050 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:66850779 (GRCh38)
                                11:66618250 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:66850778:C:T
                                Gene:
                                PC (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.66850779C>T, NC_000011.9:g.66618250C>T, NG_008319.1:g.112598G>A, NM_000920.4:c.2368G>A, NM_000920.3:c.2368G>A, NM_022172.3:c.2368G>A, NM_022172.2:c.2368G>A, NM_001040716.2:c.2368G>A, NM_001040716.1:c.2368G>A, XM_005274032.5:c.2368G>A, XM_005274032.4:c.2368G>A, XM_005274032.3:c.2368G>A, XM_005274032.2:c.2368G>A, XM_005274032.1:c.2368G>A, XM_005274031.5:c.2368G>A, XM_005274031.4:c.2368G>A, XM_005274031.3:c.2368G>A, XM_005274031.2:c.2368G>A, XM_005274031.1:c.2368G>A, XM_006718578.4:c.2368G>A, XM_006718578.3:c.2368G>A, XM_006718578.2:c.2368G>A, XM_006718578.1:c.2368G>A, XM_006718579.4:c.847G>A, XM_006718579.3:c.847G>A, XM_006718579.2:c.847G>A, XM_006718579.1:c.847G>A, XM_017017872.3:c.2368G>A, XM_017017872.2:c.2368G>A, XM_017017872.1:c.2368G>A, XM_011545086.3:c.2368G>A, XM_011545086.2:c.2368G>A, XM_011545086.1:c.2368G>A, XM_011545087.3:c.1072G>A, XM_011545087.2:c.1072G>A, XM_011545087.1:c.1072G>A, XM_017017868.2:c.2368G>A, XM_017017868.1:c.2368G>A, XM_017017869.2:c.2368G>A, XM_017017869.1:c.2368G>A, XM_017017870.2:c.2368G>A, XM_017017870.1:c.2368G>A, XM_017017871.2:c.2368G>A, XM_017017871.1:c.2368G>A, XM_047427058.1:c.847G>A, NP_000911.2:p.Gly790Arg, NP_071504.2:p.Gly790Arg, NP_001035806.1:p.Gly790Arg, XP_005274089.1:p.Gly790Arg, XP_005274088.1:p.Gly790Arg, XP_006718641.1:p.Gly790Arg, XP_006718642.1:p.Gly283Arg, XP_016873361.1:p.Gly790Arg, XP_011543388.1:p.Gly790Arg, XP_011543389.1:p.Gly358Arg, XP_016873357.1:p.Gly790Arg, XP_016873358.1:p.Gly790Arg, XP_016873359.1:p.Gly790Arg, XP_016873360.1:p.Gly790Arg, XP_047283014.1:p.Gly283Arg

                                16.

                                rs1477870472 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:66852813 (GRCh38)
                                  11:66620284 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:66852812:T:C
                                  Gene:
                                  PC (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.66852813T>C, NC_000011.9:g.66620284T>C, NG_008319.1:g.110564A>G, NM_000920.4:c.1537A>G, NM_000920.3:c.1537A>G, NM_022172.3:c.1537A>G, NM_022172.2:c.1537A>G, NM_001040716.2:c.1537A>G, NM_001040716.1:c.1537A>G, XM_005274032.5:c.1537A>G, XM_005274032.4:c.1537A>G, XM_005274032.3:c.1537A>G, XM_005274032.2:c.1537A>G, XM_005274032.1:c.1537A>G, XM_005274031.5:c.1537A>G, XM_005274031.4:c.1537A>G, XM_005274031.3:c.1537A>G, XM_005274031.2:c.1537A>G, XM_005274031.1:c.1537A>G, XM_006718578.4:c.1537A>G, XM_006718578.3:c.1537A>G, XM_006718578.2:c.1537A>G, XM_006718578.1:c.1537A>G, XM_006718579.4:c.16A>G, XM_006718579.3:c.16A>G, XM_006718579.2:c.16A>G, XM_006718579.1:c.16A>G, XM_017017872.3:c.1537A>G, XM_017017872.2:c.1537A>G, XM_017017872.1:c.1537A>G, XM_011545086.3:c.1537A>G, XM_011545086.2:c.1537A>G, XM_011545086.1:c.1537A>G, XM_011545087.3:c.241A>G, XM_011545087.2:c.241A>G, XM_011545087.1:c.241A>G, XM_017017868.2:c.1537A>G, XM_017017868.1:c.1537A>G, XM_017017869.2:c.1537A>G, XM_017017869.1:c.1537A>G, XM_017017870.2:c.1537A>G, XM_017017870.1:c.1537A>G, XM_017017871.2:c.1537A>G, XM_017017871.1:c.1537A>G, XM_047427058.1:c.16A>G, NP_000911.2:p.Thr513Ala, NP_071504.2:p.Thr513Ala, NP_001035806.1:p.Thr513Ala, XP_005274089.1:p.Thr513Ala, XP_005274088.1:p.Thr513Ala, XP_006718641.1:p.Thr513Ala, XP_006718642.1:p.Thr6Ala, XP_016873361.1:p.Thr513Ala, XP_011543388.1:p.Thr513Ala, XP_011543389.1:p.Thr81Ala, XP_016873357.1:p.Thr513Ala, XP_016873358.1:p.Thr513Ala, XP_016873359.1:p.Thr513Ala, XP_016873360.1:p.Thr513Ala, XP_047283014.1:p.Thr6Ala

                                  17.

                                  rs1475855830 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    11:66871732 (GRCh38)
                                    11:66639203 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:66871731:G:A,NC_000011.10:66871731:G:C
                                    Gene:
                                    PC (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.00007/1 (ALFA)
                                    HGVS:
                                    NC_000011.10:g.66871732G>A, NC_000011.10:g.66871732G>C, NC_000011.9:g.66639203G>A, NC_000011.9:g.66639203G>C, NG_008319.1:g.91645C>T, NG_008319.1:g.91645C>G, NM_000920.4:c.276C>T, NM_000920.4:c.276C>G, NM_000920.3:c.276C>T, NM_000920.3:c.276C>G, NM_022172.3:c.276C>T, NM_022172.3:c.276C>G, NM_022172.2:c.276C>T, NM_022172.2:c.276C>G, NM_001040716.2:c.276C>T, NM_001040716.2:c.276C>G, NM_001040716.1:c.276C>T, NM_001040716.1:c.276C>G, XM_005274032.5:c.276C>T, XM_005274032.5:c.276C>G, XM_005274032.4:c.276C>T, XM_005274032.4:c.276C>G, XM_005274032.3:c.276C>T, XM_005274032.3:c.276C>G, XM_005274032.2:c.276C>T, XM_005274032.2:c.276C>G, XM_005274032.1:c.276C>T, XM_005274032.1:c.276C>G, XM_005274031.5:c.276C>T, XM_005274031.5:c.276C>G, XM_005274031.4:c.276C>T, XM_005274031.4:c.276C>G, XM_005274031.3:c.276C>T, XM_005274031.3:c.276C>G, XM_005274031.2:c.276C>T, XM_005274031.2:c.276C>G, XM_005274031.1:c.276C>T, XM_005274031.1:c.276C>G, XM_006718578.4:c.276C>T, XM_006718578.4:c.276C>G, XM_006718578.3:c.276C>T, XM_006718578.3:c.276C>G, XM_006718578.2:c.276C>T, XM_006718578.2:c.276C>G, XM_006718578.1:c.276C>T, XM_006718578.1:c.276C>G, XM_017017872.3:c.276C>T, XM_017017872.3:c.276C>G, XM_017017872.2:c.276C>T, XM_017017872.2:c.276C>G, XM_017017872.1:c.276C>T, XM_017017872.1:c.276C>G, XM_011545086.3:c.276C>T, XM_011545086.3:c.276C>G, XM_011545086.2:c.276C>T, XM_011545086.2:c.276C>G, XM_011545086.1:c.276C>T, XM_011545086.1:c.276C>G, XM_017017868.2:c.276C>T, XM_017017868.2:c.276C>G, XM_017017868.1:c.276C>T, XM_017017868.1:c.276C>G, XM_017017869.2:c.276C>T, XM_017017869.2:c.276C>G, XM_017017869.1:c.276C>T, XM_017017869.1:c.276C>G, XM_017017870.2:c.276C>T, XM_017017870.2:c.276C>G, XM_017017870.1:c.276C>T, XM_017017870.1:c.276C>G, XM_017017871.2:c.276C>T, XM_017017871.2:c.276C>G, XM_017017871.1:c.276C>T, XM_017017871.1:c.276C>G

                                    18.

                                    rs1475677649 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:66852500 (GRCh38)
                                      11:66619971 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:66852499:T:C
                                      Gene:
                                      PC (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.66852500T>C, NC_000011.9:g.66619971T>C, NG_008319.1:g.110877A>G, NM_000920.4:c.1764A>G, NM_000920.3:c.1764A>G, NM_022172.3:c.1764A>G, NM_022172.2:c.1764A>G, NM_001040716.2:c.1764A>G, NM_001040716.1:c.1764A>G, XM_005274032.5:c.1764A>G, XM_005274032.4:c.1764A>G, XM_005274032.3:c.1764A>G, XM_005274032.2:c.1764A>G, XM_005274032.1:c.1764A>G, XM_005274031.5:c.1764A>G, XM_005274031.4:c.1764A>G, XM_005274031.3:c.1764A>G, XM_005274031.2:c.1764A>G, XM_005274031.1:c.1764A>G, XM_006718578.4:c.1764A>G, XM_006718578.3:c.1764A>G, XM_006718578.2:c.1764A>G, XM_006718578.1:c.1764A>G, XM_006718579.4:c.243A>G, XM_006718579.3:c.243A>G, XM_006718579.2:c.243A>G, XM_006718579.1:c.243A>G, XM_017017872.3:c.1764A>G, XM_017017872.2:c.1764A>G, XM_017017872.1:c.1764A>G, XM_011545086.3:c.1764A>G, XM_011545086.2:c.1764A>G, XM_011545086.1:c.1764A>G, XM_011545087.3:c.468A>G, XM_011545087.2:c.468A>G, XM_011545087.1:c.468A>G, XM_017017868.2:c.1764A>G, XM_017017868.1:c.1764A>G, XM_017017869.2:c.1764A>G, XM_017017869.1:c.1764A>G, XM_017017870.2:c.1764A>G, XM_017017870.1:c.1764A>G, XM_017017871.2:c.1764A>G, XM_017017871.1:c.1764A>G, XM_047427058.1:c.243A>G

                                      19.

                                      rs1474828861 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        11:66851182 (GRCh38)
                                        11:66618653 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:66851181:C:G,NC_000011.10:66851181:C:T
                                        Gene:
                                        PC (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.66851182C>G, NC_000011.10:g.66851182C>T, NC_000011.9:g.66618653C>G, NC_000011.9:g.66618653C>T, NG_008319.1:g.112195G>C, NG_008319.1:g.112195G>A, NM_000920.4:c.2081G>C, NM_000920.4:c.2081G>A, NM_000920.3:c.2081G>C, NM_000920.3:c.2081G>A, NM_022172.3:c.2081G>C, NM_022172.3:c.2081G>A, NM_022172.2:c.2081G>C, NM_022172.2:c.2081G>A, NM_001040716.2:c.2081G>C, NM_001040716.2:c.2081G>A, NM_001040716.1:c.2081G>C, NM_001040716.1:c.2081G>A, XM_005274032.5:c.2081G>C, XM_005274032.5:c.2081G>A, XM_005274032.4:c.2081G>C, XM_005274032.4:c.2081G>A, XM_005274032.3:c.2081G>C, XM_005274032.3:c.2081G>A, XM_005274032.2:c.2081G>C, XM_005274032.2:c.2081G>A, XM_005274032.1:c.2081G>C, XM_005274032.1:c.2081G>A, XM_005274031.5:c.2081G>C, XM_005274031.5:c.2081G>A, XM_005274031.4:c.2081G>C, XM_005274031.4:c.2081G>A, XM_005274031.3:c.2081G>C, XM_005274031.3:c.2081G>A, XM_005274031.2:c.2081G>C, XM_005274031.2:c.2081G>A, XM_005274031.1:c.2081G>C, XM_005274031.1:c.2081G>A, XM_006718578.4:c.2081G>C, XM_006718578.4:c.2081G>A, XM_006718578.3:c.2081G>C, XM_006718578.3:c.2081G>A, XM_006718578.2:c.2081G>C, XM_006718578.2:c.2081G>A, XM_006718578.1:c.2081G>C, XM_006718578.1:c.2081G>A, XM_006718579.4:c.560G>C, XM_006718579.4:c.560G>A, XM_006718579.3:c.560G>C, XM_006718579.3:c.560G>A, XM_006718579.2:c.560G>C, XM_006718579.2:c.560G>A, XM_006718579.1:c.560G>C, XM_006718579.1:c.560G>A, XM_017017872.3:c.2081G>C, XM_017017872.3:c.2081G>A, XM_017017872.2:c.2081G>C, XM_017017872.2:c.2081G>A, XM_017017872.1:c.2081G>C, XM_017017872.1:c.2081G>A, XM_011545086.3:c.2081G>C, XM_011545086.3:c.2081G>A, XM_011545086.2:c.2081G>C, XM_011545086.2:c.2081G>A, XM_011545086.1:c.2081G>C, XM_011545086.1:c.2081G>A, XM_011545087.3:c.785G>C, XM_011545087.3:c.785G>A, XM_011545087.2:c.785G>C, XM_011545087.2:c.785G>A, XM_011545087.1:c.785G>C, XM_011545087.1:c.785G>A, XM_017017868.2:c.2081G>C, XM_017017868.2:c.2081G>A, XM_017017868.1:c.2081G>C, XM_017017868.1:c.2081G>A, XM_017017869.2:c.2081G>C, XM_017017869.2:c.2081G>A, XM_017017869.1:c.2081G>C, XM_017017869.1:c.2081G>A, XM_017017870.2:c.2081G>C, XM_017017870.2:c.2081G>A, XM_017017870.1:c.2081G>C, XM_017017870.1:c.2081G>A, XM_017017871.2:c.2081G>C, XM_017017871.2:c.2081G>A, XM_017017871.1:c.2081G>C, XM_017017871.1:c.2081G>A, XM_047427058.1:c.560G>C, XM_047427058.1:c.560G>A, NP_000911.2:p.Gly694Ala, NP_000911.2:p.Gly694Glu, NP_071504.2:p.Gly694Ala, NP_071504.2:p.Gly694Glu, NP_001035806.1:p.Gly694Ala, NP_001035806.1:p.Gly694Glu, XP_005274089.1:p.Gly694Ala, XP_005274089.1:p.Gly694Glu, XP_005274088.1:p.Gly694Ala, XP_005274088.1:p.Gly694Glu, XP_006718641.1:p.Gly694Ala, XP_006718641.1:p.Gly694Glu, XP_006718642.1:p.Gly187Ala, XP_006718642.1:p.Gly187Glu, XP_016873361.1:p.Gly694Ala, XP_016873361.1:p.Gly694Glu, XP_011543388.1:p.Gly694Ala, XP_011543388.1:p.Gly694Glu, XP_011543389.1:p.Gly262Ala, XP_011543389.1:p.Gly262Glu, XP_016873357.1:p.Gly694Ala, XP_016873357.1:p.Gly694Glu, XP_016873358.1:p.Gly694Ala, XP_016873358.1:p.Gly694Glu, XP_016873359.1:p.Gly694Ala, XP_016873359.1:p.Gly694Glu, XP_016873360.1:p.Gly694Ala, XP_016873360.1:p.Gly694Glu, XP_047283014.1:p.Gly187Ala, XP_047283014.1:p.Gly187Glu

                                        20.

                                        rs1474467787 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          11:66849297 (GRCh38)
                                          11:66616768 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:66849296:C:A,NC_000011.10:66849296:C:T
                                          Gene:
                                          PC (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.66849297C>A, NC_000011.10:g.66849297C>T, NC_000011.9:g.66616768C>A, NC_000011.9:g.66616768C>T, NG_008319.1:g.114080G>T, NG_008319.1:g.114080G>A, NM_000920.4:c.3221G>T, NM_000920.4:c.3221G>A, NM_000920.3:c.3221G>T, NM_000920.3:c.3221G>A, NM_022172.3:c.3221G>T, NM_022172.3:c.3221G>A, NM_022172.2:c.3221G>T, NM_022172.2:c.3221G>A, NM_001040716.2:c.3221G>T, NM_001040716.2:c.3221G>A, NM_001040716.1:c.3221G>T, NM_001040716.1:c.3221G>A, XM_005274032.5:c.3221G>T, XM_005274032.5:c.3221G>A, XM_005274032.4:c.3221G>T, XM_005274032.4:c.3221G>A, XM_005274032.3:c.3221G>T, XM_005274032.3:c.3221G>A, XM_005274032.2:c.3221G>T, XM_005274032.2:c.3221G>A, XM_005274032.1:c.3221G>T, XM_005274032.1:c.3221G>A, XM_005274031.5:c.3221G>T, XM_005274031.5:c.3221G>A, XM_005274031.4:c.3221G>T, XM_005274031.4:c.3221G>A, XM_005274031.3:c.3221G>T, XM_005274031.3:c.3221G>A, XM_005274031.2:c.3221G>T, XM_005274031.2:c.3221G>A, XM_005274031.1:c.3221G>T, XM_005274031.1:c.3221G>A, XM_006718578.4:c.3221G>T, XM_006718578.4:c.3221G>A, XM_006718578.3:c.3221G>T, XM_006718578.3:c.3221G>A, XM_006718578.2:c.3221G>T, XM_006718578.2:c.3221G>A, XM_006718578.1:c.3221G>T, XM_006718578.1:c.3221G>A, XM_006718579.4:c.1700G>T, XM_006718579.4:c.1700G>A, XM_006718579.3:c.1700G>T, XM_006718579.3:c.1700G>A, XM_006718579.2:c.1700G>T, XM_006718579.2:c.1700G>A, XM_006718579.1:c.1700G>T, XM_006718579.1:c.1700G>A, XM_017017872.3:c.3221G>T, XM_017017872.3:c.3221G>A, XM_017017872.2:c.3221G>T, XM_017017872.2:c.3221G>A, XM_017017872.1:c.3221G>T, XM_017017872.1:c.3221G>A, XM_011545086.3:c.3221G>T, XM_011545086.3:c.3221G>A, XM_011545086.2:c.3221G>T, XM_011545086.2:c.3221G>A, XM_011545086.1:c.3221G>T, XM_011545086.1:c.3221G>A, XM_011545087.3:c.1925G>T, XM_011545087.3:c.1925G>A, XM_011545087.2:c.1925G>T, XM_011545087.2:c.1925G>A, XM_011545087.1:c.1925G>T, XM_011545087.1:c.1925G>A, XM_017017868.2:c.3221G>T, XM_017017868.2:c.3221G>A, XM_017017868.1:c.3221G>T, XM_017017868.1:c.3221G>A, XM_017017869.2:c.3221G>T, XM_017017869.2:c.3221G>A, XM_017017869.1:c.3221G>T, XM_017017869.1:c.3221G>A, XM_017017870.2:c.3221G>T, XM_017017870.2:c.3221G>A, XM_017017870.1:c.3221G>T, XM_017017870.1:c.3221G>A, XM_017017871.2:c.3221G>T, XM_017017871.2:c.3221G>A, XM_017017871.1:c.3221G>T, XM_017017871.1:c.3221G>A, XM_047427058.1:c.1700G>T, XM_047427058.1:c.1700G>A, NP_000911.2:p.Arg1074Met, NP_000911.2:p.Arg1074Lys, NP_071504.2:p.Arg1074Met, NP_071504.2:p.Arg1074Lys, NP_001035806.1:p.Arg1074Met, NP_001035806.1:p.Arg1074Lys, XP_005274089.1:p.Arg1074Met, XP_005274089.1:p.Arg1074Lys, XP_005274088.1:p.Arg1074Met, XP_005274088.1:p.Arg1074Lys, XP_006718641.1:p.Arg1074Met, XP_006718641.1:p.Arg1074Lys, XP_006718642.1:p.Arg567Met, XP_006718642.1:p.Arg567Lys, XP_016873361.1:p.Arg1074Met, XP_016873361.1:p.Arg1074Lys, XP_011543388.1:p.Arg1074Met, XP_011543388.1:p.Arg1074Lys, XP_011543389.1:p.Arg642Met, XP_011543389.1:p.Arg642Lys, XP_016873357.1:p.Arg1074Met, XP_016873357.1:p.Arg1074Lys, XP_016873358.1:p.Arg1074Met, XP_016873358.1:p.Arg1074Lys, XP_016873359.1:p.Arg1074Met, XP_016873359.1:p.Arg1074Lys, XP_016873360.1:p.Arg1074Met, XP_016873360.1:p.Arg1074Lys, XP_047283014.1:p.Arg567Met, XP_047283014.1:p.Arg567Lys

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