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Items: 1 to 20 of 1166

1.

rs1490277317 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:122474443 (GRCh38)
    7:122114497 (GRCh37)
    Canonical SPDI:
    NC_000007.14:122474442:G:A
    Gene:
    CADPS2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000111/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.122474443G>A, NC_000007.13:g.122114497G>A, NG_016215.2:g.417317C>T, NM_017954.11:c.1936C>T, NM_017954.10:c.1936C>T, NM_001009571.4:c.1927C>T, NM_001009571.3:c.1927C>T, NM_001363399.2:c.1453C>T, NM_001363399.1:c.1453C>T, NM_001363389.2:c.1936C>T, NM_001363389.1:c.1936C>T, NM_001363390.2:c.1936C>T, NM_001363390.1:c.1936C>T, NM_001363391.2:c.1927C>T, NM_001363391.1:c.1927C>T, NM_001167940.2:c.1936C>T, NM_001167940.1:c.1936C>T, NM_001363400.2:c.1453C>T, NM_001363400.1:c.1453C>T, NM_001363392.2:c.1936C>T, NM_001363392.1:c.1936C>T, NM_001363393.2:c.1936C>T, NM_001363393.1:c.1936C>T, NM_001363394.2:c.1936C>T, NM_001363394.1:c.1936C>T, NM_001363395.2:c.1927C>T, NM_001363395.1:c.1927C>T, NM_001363396.2:c.1936C>T, NM_001363396.1:c.1936C>T, NM_001363397.2:c.1936C>T, NM_001363397.1:c.1936C>T, NM_001363398.2:c.1927C>T, NM_001363398.1:c.1927C>T, XM_005250697.6:c.1927C>T, XM_005250697.5:c.1927C>T, XM_005250697.4:c.1927C>T, XM_005250697.3:c.1927C>T, XM_005250697.2:c.1927C>T, XM_005250697.1:c.1927C>T, XM_005250696.6:c.1936C>T, XM_005250696.5:c.1936C>T, XM_005250696.4:c.1936C>T, XM_005250696.3:c.1936C>T, XM_005250696.2:c.1936C>T, XM_005250696.1:c.1936C>T, XM_005250699.6:c.1936C>T, XM_005250699.5:c.1936C>T, XM_005250699.4:c.1936C>T, XM_005250699.3:c.1936C>T, XM_005250699.2:c.1936C>T, XM_005250699.1:c.1936C>T, XM_005250701.6:c.1936C>T, XM_005250701.5:c.1936C>T, XM_005250701.4:c.1936C>T, XM_005250701.3:c.1936C>T, XM_005250701.2:c.1936C>T, XM_005250701.1:c.1936C>T, XM_005250702.6:c.1927C>T, XM_005250702.5:c.1927C>T, XM_005250702.4:c.1927C>T, XM_005250702.3:c.1927C>T, XM_005250702.2:c.1927C>T, XM_005250702.1:c.1927C>T, XM_005250704.6:c.1936C>T, XM_005250704.5:c.1936C>T, XM_005250704.4:c.1936C>T, XM_005250704.3:c.1936C>T, XM_005250704.2:c.1936C>T, XM_005250704.1:c.1936C>T, XM_005250706.6:c.1927C>T, XM_005250706.5:c.1927C>T, XM_005250706.4:c.1927C>T, XM_005250706.3:c.1927C>T, XM_005250706.2:c.1927C>T, XM_005250706.1:c.1927C>T, XM_005250707.6:c.1936C>T, XM_005250707.5:c.1936C>T, XM_005250707.4:c.1936C>T, XM_005250707.3:c.1936C>T, XM_005250707.2:c.1936C>T, XM_005250707.1:c.1936C>T, XM_017012796.3:c.1453C>T, XM_017012796.2:c.1453C>T, XM_017012796.1:c.1453C>T, XM_017012794.3:c.1927C>T, XM_017012794.2:c.1927C>T, XM_017012794.1:c.1927C>T, XM_047421031.1:c.1927C>T, XM_047421032.1:c.1927C>T, XM_047421033.1:c.1927C>T, XM_047421034.1:c.823C>T, NP_060424.9:p.Leu646Phe, NP_001009571.2:p.Leu643Phe, NP_001350328.1:p.Leu485Phe, NP_001350318.1:p.Leu646Phe, NP_001350319.1:p.Leu646Phe, NP_001350320.1:p.Leu643Phe, NP_001161412.1:p.Leu646Phe, NP_001350329.1:p.Leu485Phe, NP_001350321.1:p.Leu646Phe, NP_001350322.1:p.Leu646Phe, NP_001350323.1:p.Leu646Phe, NP_001350324.1:p.Leu643Phe, NP_001350325.1:p.Leu646Phe, NP_001350326.1:p.Leu646Phe, NP_001350327.1:p.Leu643Phe, XP_005250754.1:p.Leu643Phe, XP_005250753.1:p.Leu646Phe, XP_005250756.1:p.Leu646Phe, XP_005250758.1:p.Leu646Phe, XP_005250759.1:p.Leu643Phe, XP_005250761.1:p.Leu646Phe, XP_005250763.1:p.Leu643Phe, XP_005250764.1:p.Leu646Phe, XP_016868285.1:p.Leu485Phe, XP_016868283.1:p.Leu643Phe, XP_047276987.1:p.Leu643Phe, XP_047276988.1:p.Leu643Phe, XP_047276989.1:p.Leu643Phe, XP_047276990.1:p.Leu275Phe

    2.

    rs1489650521 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:122886223 (GRCh38)
      7:122526277 (GRCh37)
      Canonical SPDI:
      NC_000007.14:122886222:C:T
      Gene:
      CADPS2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.00014/1 (ALFA)
      T=0.00001/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.122886223C>T, NC_000007.13:g.122526277C>T, NG_016215.2:g.5537G>A, NM_017954.11:c.115G>A, NM_017954.10:c.115G>A, NM_001009571.4:c.115G>A, NM_001009571.3:c.115G>A, NM_001363399.2:c.-421G>A, NM_001363399.1:c.-421G>A, NM_001363389.2:c.115G>A, NM_001363389.1:c.115G>A, NM_001363390.2:c.115G>A, NM_001363390.1:c.115G>A, NM_001363391.2:c.115G>A, NM_001363391.1:c.115G>A, NM_001167940.2:c.115G>A, NM_001167940.1:c.115G>A, NM_001363400.2:c.-421G>A, NM_001363400.1:c.-421G>A, NM_001363392.2:c.115G>A, NM_001363392.1:c.115G>A, NM_001363393.2:c.115G>A, NM_001363393.1:c.115G>A, NM_001363394.2:c.115G>A, NM_001363394.1:c.115G>A, NM_001363395.2:c.115G>A, NM_001363395.1:c.115G>A, NM_001363396.2:c.115G>A, NM_001363396.1:c.115G>A, NM_001363397.2:c.115G>A, NM_001363397.1:c.115G>A, NM_001363398.2:c.115G>A, NM_001363398.1:c.115G>A, XM_005250697.6:c.115G>A, XM_005250697.5:c.115G>A, XM_005250697.4:c.115G>A, XM_005250697.3:c.115G>A, XM_005250697.2:c.115G>A, XM_005250697.1:c.115G>A, XM_005250696.6:c.115G>A, XM_005250696.5:c.115G>A, XM_005250696.4:c.115G>A, XM_005250696.3:c.115G>A, XM_005250696.2:c.115G>A, XM_005250696.1:c.115G>A, XM_005250699.6:c.115G>A, XM_005250699.5:c.115G>A, XM_005250699.4:c.115G>A, XM_005250699.3:c.115G>A, XM_005250699.2:c.115G>A, XM_005250699.1:c.115G>A, XM_005250701.6:c.115G>A, XM_005250701.5:c.115G>A, XM_005250701.4:c.115G>A, XM_005250701.3:c.115G>A, XM_005250701.2:c.115G>A, XM_005250701.1:c.115G>A, XM_005250702.6:c.115G>A, XM_005250702.5:c.115G>A, XM_005250702.4:c.115G>A, XM_005250702.3:c.115G>A, XM_005250702.2:c.115G>A, XM_005250702.1:c.115G>A, XM_005250704.6:c.115G>A, XM_005250704.5:c.115G>A, XM_005250704.4:c.115G>A, XM_005250704.3:c.115G>A, XM_005250704.2:c.115G>A, XM_005250704.1:c.115G>A, XM_005250706.6:c.115G>A, XM_005250706.5:c.115G>A, XM_005250706.4:c.115G>A, XM_005250706.3:c.115G>A, XM_005250706.2:c.115G>A, XM_005250706.1:c.115G>A, XM_005250707.6:c.115G>A, XM_005250707.5:c.115G>A, XM_005250707.4:c.115G>A, XM_005250707.3:c.115G>A, XM_005250707.2:c.115G>A, XM_005250707.1:c.115G>A, XM_017012796.3:c.-421G>A, XM_017012794.3:c.115G>A, XM_017012794.2:c.115G>A, XM_017012794.1:c.115G>A, XM_047421031.1:c.115G>A, XM_047421032.1:c.115G>A, XM_047421033.1:c.115G>A, NP_060424.9:p.Glu39Lys, NP_001009571.2:p.Glu39Lys, NP_001350318.1:p.Glu39Lys, NP_001350319.1:p.Glu39Lys, NP_001350320.1:p.Glu39Lys, NP_001161412.1:p.Glu39Lys, NP_001350321.1:p.Glu39Lys, NP_001350322.1:p.Glu39Lys, NP_001350323.1:p.Glu39Lys, NP_001350324.1:p.Glu39Lys, NP_001350325.1:p.Glu39Lys, NP_001350326.1:p.Glu39Lys, NP_001350327.1:p.Glu39Lys, XP_005250754.1:p.Glu39Lys, XP_005250753.1:p.Glu39Lys, XP_005250756.1:p.Glu39Lys, XP_005250758.1:p.Glu39Lys, XP_005250759.1:p.Glu39Lys, XP_005250761.1:p.Glu39Lys, XP_005250763.1:p.Glu39Lys, XP_005250764.1:p.Glu39Lys, XP_016868283.1:p.Glu39Lys, XP_047276987.1:p.Glu39Lys, XP_047276988.1:p.Glu39Lys, XP_047276989.1:p.Glu39Lys

      3.

      rs1489633050 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:122438448 (GRCh38)
        7:122078502 (GRCh37)
        Canonical SPDI:
        NC_000007.14:122438447:A:G
        Gene:
        CADPS2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000011/3 (TOPMED)
        HGVS:
        NC_000007.14:g.122438448A>G, NC_000007.13:g.122078502A>G, NG_016215.2:g.453312T>C, NM_017954.11:c.2369T>C, NM_017954.10:c.2369T>C, NM_001009571.4:c.2360T>C, NM_001009571.3:c.2360T>C, NM_001363399.2:c.1886T>C, NM_001363399.1:c.1886T>C, NM_001363389.2:c.2369T>C, NM_001363389.1:c.2369T>C, NM_001363390.2:c.2369T>C, NM_001363390.1:c.2369T>C, NM_001363391.2:c.2360T>C, NM_001363391.1:c.2360T>C, NM_001167940.2:c.2369T>C, NM_001167940.1:c.2369T>C, NM_001363400.2:c.1886T>C, NM_001363400.1:c.1886T>C, NM_001363392.2:c.2369T>C, NM_001363392.1:c.2369T>C, NM_001363393.2:c.2369T>C, NM_001363393.1:c.2369T>C, NM_001363394.2:c.2369T>C, NM_001363394.1:c.2369T>C, NM_001363395.2:c.2360T>C, NM_001363395.1:c.2360T>C, NM_001363396.2:c.2369T>C, NM_001363396.1:c.2369T>C, NM_001363397.2:c.2369T>C, NM_001363397.1:c.2369T>C, NM_001363398.2:c.2360T>C, NM_001363398.1:c.2360T>C, XM_005250697.6:c.2360T>C, XM_005250697.5:c.2360T>C, XM_005250697.4:c.2360T>C, XM_005250697.3:c.2360T>C, XM_005250697.2:c.2360T>C, XM_005250697.1:c.2360T>C, XM_005250696.6:c.2369T>C, XM_005250696.5:c.2369T>C, XM_005250696.4:c.2369T>C, XM_005250696.3:c.2369T>C, XM_005250696.2:c.2369T>C, XM_005250696.1:c.2369T>C, XM_005250699.6:c.2369T>C, XM_005250699.5:c.2369T>C, XM_005250699.4:c.2369T>C, XM_005250699.3:c.2369T>C, XM_005250699.2:c.2369T>C, XM_005250699.1:c.2369T>C, XM_005250701.6:c.2369T>C, XM_005250701.5:c.2369T>C, XM_005250701.4:c.2369T>C, XM_005250701.3:c.2369T>C, XM_005250701.2:c.2369T>C, XM_005250701.1:c.2369T>C, XM_005250702.6:c.2360T>C, XM_005250702.5:c.2360T>C, XM_005250702.4:c.2360T>C, XM_005250702.3:c.2360T>C, XM_005250702.2:c.2360T>C, XM_005250702.1:c.2360T>C, XM_005250704.6:c.2369T>C, XM_005250704.5:c.2369T>C, XM_005250704.4:c.2369T>C, XM_005250704.3:c.2369T>C, XM_005250704.2:c.2369T>C, XM_005250704.1:c.2369T>C, XM_005250706.6:c.2360T>C, XM_005250706.5:c.2360T>C, XM_005250706.4:c.2360T>C, XM_005250706.3:c.2360T>C, XM_005250706.2:c.2360T>C, XM_005250706.1:c.2360T>C, XM_005250707.6:c.2369T>C, XM_005250707.5:c.2369T>C, XM_005250707.4:c.2369T>C, XM_005250707.3:c.2369T>C, XM_005250707.2:c.2369T>C, XM_005250707.1:c.2369T>C, XM_017012796.3:c.1886T>C, XM_017012796.2:c.1886T>C, XM_017012796.1:c.1886T>C, XM_017012794.3:c.2360T>C, XM_017012794.2:c.2360T>C, XM_017012794.1:c.2360T>C, XM_047421031.1:c.2360T>C, XM_047421032.1:c.2360T>C, XM_047421033.1:c.2360T>C, XM_047421034.1:c.1256T>C, NP_060424.9:p.Ile790Thr, NP_001009571.2:p.Ile787Thr, NP_001350328.1:p.Ile629Thr, NP_001350318.1:p.Ile790Thr, NP_001350319.1:p.Ile790Thr, NP_001350320.1:p.Ile787Thr, NP_001161412.1:p.Ile790Thr, NP_001350329.1:p.Ile629Thr, NP_001350321.1:p.Ile790Thr, NP_001350322.1:p.Ile790Thr, NP_001350323.1:p.Ile790Thr, NP_001350324.1:p.Ile787Thr, NP_001350325.1:p.Ile790Thr, NP_001350326.1:p.Ile790Thr, NP_001350327.1:p.Ile787Thr, XP_005250754.1:p.Ile787Thr, XP_005250753.1:p.Ile790Thr, XP_005250756.1:p.Ile790Thr, XP_005250758.1:p.Ile790Thr, XP_005250759.1:p.Ile787Thr, XP_005250761.1:p.Ile790Thr, XP_005250763.1:p.Ile787Thr, XP_005250764.1:p.Ile790Thr, XP_016868285.1:p.Ile629Thr, XP_016868283.1:p.Ile787Thr, XP_047276987.1:p.Ile787Thr, XP_047276988.1:p.Ile787Thr, XP_047276989.1:p.Ile787Thr, XP_047276990.1:p.Ile419Thr

        4.

        rs1488807510 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          7:122736972 (GRCh38)
          7:122377026 (GRCh37)
          Canonical SPDI:
          NC_000007.14:122736971:C:G
          Gene:
          CADPS2 (Varview), LOC124901738 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.122736972C>G, NC_000007.13:g.122377026C>G, NG_016215.2:g.154788G>C, NM_017954.11:c.436G>C, NM_017954.10:c.436G>C, NM_001009571.4:c.436G>C, NM_001009571.3:c.436G>C, NM_001363399.2:c.-48G>C, NM_001363399.1:c.-48G>C, NM_001363389.2:c.436G>C, NM_001363389.1:c.436G>C, NM_001363390.2:c.436G>C, NM_001363390.1:c.436G>C, NM_001363391.2:c.436G>C, NM_001363391.1:c.436G>C, NM_001167940.2:c.436G>C, NM_001167940.1:c.436G>C, NM_001363400.2:c.-48G>C, NM_001363400.1:c.-48G>C, NM_001363392.2:c.436G>C, NM_001363392.1:c.436G>C, NM_001363393.2:c.436G>C, NM_001363393.1:c.436G>C, NM_001363394.2:c.436G>C, NM_001363394.1:c.436G>C, NM_001363395.2:c.436G>C, NM_001363395.1:c.436G>C, NM_001363396.2:c.436G>C, NM_001363396.1:c.436G>C, NM_001363397.2:c.436G>C, NM_001363397.1:c.436G>C, NM_001363398.2:c.436G>C, NM_001363398.1:c.436G>C, XM_005250697.6:c.436G>C, XM_005250697.5:c.436G>C, XM_005250697.4:c.436G>C, XM_005250697.3:c.436G>C, XM_005250697.2:c.436G>C, XM_005250697.1:c.436G>C, XM_005250696.6:c.436G>C, XM_005250696.5:c.436G>C, XM_005250696.4:c.436G>C, XM_005250696.3:c.436G>C, XM_005250696.2:c.436G>C, XM_005250696.1:c.436G>C, XM_005250699.6:c.436G>C, XM_005250699.5:c.436G>C, XM_005250699.4:c.436G>C, XM_005250699.3:c.436G>C, XM_005250699.2:c.436G>C, XM_005250699.1:c.436G>C, XM_005250701.6:c.436G>C, XM_005250701.5:c.436G>C, XM_005250701.4:c.436G>C, XM_005250701.3:c.436G>C, XM_005250701.2:c.436G>C, XM_005250701.1:c.436G>C, XM_005250702.6:c.436G>C, XM_005250702.5:c.436G>C, XM_005250702.4:c.436G>C, XM_005250702.3:c.436G>C, XM_005250702.2:c.436G>C, XM_005250702.1:c.436G>C, XM_005250704.6:c.436G>C, XM_005250704.5:c.436G>C, XM_005250704.4:c.436G>C, XM_005250704.3:c.436G>C, XM_005250704.2:c.436G>C, XM_005250704.1:c.436G>C, XM_005250706.6:c.436G>C, XM_005250706.5:c.436G>C, XM_005250706.4:c.436G>C, XM_005250706.3:c.436G>C, XM_005250706.2:c.436G>C, XM_005250706.1:c.436G>C, XM_005250707.6:c.436G>C, XM_005250707.5:c.436G>C, XM_005250707.4:c.436G>C, XM_005250707.3:c.436G>C, XM_005250707.2:c.436G>C, XM_005250707.1:c.436G>C, XM_017012796.3:c.-48G>C, XM_017012796.2:c.-48G>C, XM_017012796.1:c.-48G>C, XM_017012794.3:c.436G>C, XM_017012794.2:c.436G>C, XM_017012794.1:c.436G>C, XM_047421031.1:c.436G>C, XM_047421032.1:c.436G>C, XM_047421033.1:c.436G>C, NP_060424.9:p.Val146Leu, NP_001009571.2:p.Val146Leu, NP_001350318.1:p.Val146Leu, NP_001350319.1:p.Val146Leu, NP_001350320.1:p.Val146Leu, NP_001161412.1:p.Val146Leu, NP_001350321.1:p.Val146Leu, NP_001350322.1:p.Val146Leu, NP_001350323.1:p.Val146Leu, NP_001350324.1:p.Val146Leu, NP_001350325.1:p.Val146Leu, NP_001350326.1:p.Val146Leu, NP_001350327.1:p.Val146Leu, XP_005250754.1:p.Val146Leu, XP_005250753.1:p.Val146Leu, XP_005250756.1:p.Val146Leu, XP_005250758.1:p.Val146Leu, XP_005250759.1:p.Val146Leu, XP_005250761.1:p.Val146Leu, XP_005250763.1:p.Val146Leu, XP_005250764.1:p.Val146Leu, XP_016868283.1:p.Val146Leu, XP_047276987.1:p.Val146Leu, XP_047276988.1:p.Val146Leu, XP_047276989.1:p.Val146Leu

          5.

          rs1487555454 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:122581244 (GRCh38)
            7:122221298 (GRCh37)
            Canonical SPDI:
            NC_000007.14:122581243:C:T
            Gene:
            CADPS2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.122581244C>T, NC_000007.13:g.122221298C>T, NG_016215.2:g.310516G>A, NM_017954.11:c.1270G>A, NM_017954.10:c.1270G>A, NM_001009571.4:c.1270G>A, NM_001009571.3:c.1270G>A, NM_001363399.2:c.787G>A, NM_001363399.1:c.787G>A, NM_001363389.2:c.1270G>A, NM_001363389.1:c.1270G>A, NM_001363390.2:c.1270G>A, NM_001363390.1:c.1270G>A, NM_001363391.2:c.1270G>A, NM_001363391.1:c.1270G>A, NM_001167940.2:c.1270G>A, NM_001167940.1:c.1270G>A, NM_001363400.2:c.787G>A, NM_001363400.1:c.787G>A, NM_001363392.2:c.1270G>A, NM_001363392.1:c.1270G>A, NM_001363393.2:c.1270G>A, NM_001363393.1:c.1270G>A, NM_001363394.2:c.1270G>A, NM_001363394.1:c.1270G>A, NM_001363395.2:c.1270G>A, NM_001363395.1:c.1270G>A, NM_001363396.2:c.1270G>A, NM_001363396.1:c.1270G>A, NM_001363397.2:c.1270G>A, NM_001363397.1:c.1270G>A, NM_001363398.2:c.1270G>A, NM_001363398.1:c.1270G>A, XM_005250697.6:c.1270G>A, XM_005250697.5:c.1270G>A, XM_005250697.4:c.1270G>A, XM_005250697.3:c.1270G>A, XM_005250697.2:c.1270G>A, XM_005250697.1:c.1270G>A, XM_005250696.6:c.1270G>A, XM_005250696.5:c.1270G>A, XM_005250696.4:c.1270G>A, XM_005250696.3:c.1270G>A, XM_005250696.2:c.1270G>A, XM_005250696.1:c.1270G>A, XM_005250699.6:c.1270G>A, XM_005250699.5:c.1270G>A, XM_005250699.4:c.1270G>A, XM_005250699.3:c.1270G>A, XM_005250699.2:c.1270G>A, XM_005250699.1:c.1270G>A, XM_005250701.6:c.1270G>A, XM_005250701.5:c.1270G>A, XM_005250701.4:c.1270G>A, XM_005250701.3:c.1270G>A, XM_005250701.2:c.1270G>A, XM_005250701.1:c.1270G>A, XM_005250702.6:c.1270G>A, XM_005250702.5:c.1270G>A, XM_005250702.4:c.1270G>A, XM_005250702.3:c.1270G>A, XM_005250702.2:c.1270G>A, XM_005250702.1:c.1270G>A, XM_005250704.6:c.1270G>A, XM_005250704.5:c.1270G>A, XM_005250704.4:c.1270G>A, XM_005250704.3:c.1270G>A, XM_005250704.2:c.1270G>A, XM_005250704.1:c.1270G>A, XM_005250706.6:c.1270G>A, XM_005250706.5:c.1270G>A, XM_005250706.4:c.1270G>A, XM_005250706.3:c.1270G>A, XM_005250706.2:c.1270G>A, XM_005250706.1:c.1270G>A, XM_005250707.6:c.1270G>A, XM_005250707.5:c.1270G>A, XM_005250707.4:c.1270G>A, XM_005250707.3:c.1270G>A, XM_005250707.2:c.1270G>A, XM_005250707.1:c.1270G>A, XM_017012796.3:c.787G>A, XM_017012796.2:c.787G>A, XM_017012796.1:c.787G>A, XM_017012794.3:c.1270G>A, XM_017012794.2:c.1270G>A, XM_017012794.1:c.1270G>A, XM_047421031.1:c.1270G>A, XM_047421032.1:c.1270G>A, XM_047421033.1:c.1270G>A, XM_047421034.1:c.157G>A, NP_060424.9:p.Val424Ile, NP_001009571.2:p.Val424Ile, NP_001350328.1:p.Val263Ile, NP_001350318.1:p.Val424Ile, NP_001350319.1:p.Val424Ile, NP_001350320.1:p.Val424Ile, NP_001161412.1:p.Val424Ile, NP_001350329.1:p.Val263Ile, NP_001350321.1:p.Val424Ile, NP_001350322.1:p.Val424Ile, NP_001350323.1:p.Val424Ile, NP_001350324.1:p.Val424Ile, NP_001350325.1:p.Val424Ile, NP_001350326.1:p.Val424Ile, NP_001350327.1:p.Val424Ile, XP_005250754.1:p.Val424Ile, XP_005250753.1:p.Val424Ile, XP_005250756.1:p.Val424Ile, XP_005250758.1:p.Val424Ile, XP_005250759.1:p.Val424Ile, XP_005250761.1:p.Val424Ile, XP_005250763.1:p.Val424Ile, XP_005250764.1:p.Val424Ile, XP_016868285.1:p.Val263Ile, XP_016868283.1:p.Val424Ile, XP_047276987.1:p.Val424Ile, XP_047276988.1:p.Val424Ile, XP_047276989.1:p.Val424Ile, XP_047276990.1:p.Val53Ile

            6.

            rs1487533177 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              7:122554614 (GRCh38)
              7:122194668 (GRCh37)
              Canonical SPDI:
              NC_000007.14:122554613:CC:C
              Gene:
              CADPS2 (Varview), LOC105375481 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.122554615del, NC_000007.13:g.122194669del, NG_016215.2:g.337146del, NM_017954.11:c.1411del, NM_017954.10:c.1411del, NM_001009571.4:c.1411del, NM_001009571.3:c.1411del, NM_001363399.2:c.928del, NM_001363399.1:c.928del, NM_001363389.2:c.1411del, NM_001363389.1:c.1411del, NM_001363390.2:c.1411del, NM_001363390.1:c.1411del, NM_001363391.2:c.1411del, NM_001363391.1:c.1411del, NM_001167940.2:c.1411del, NM_001167940.1:c.1411del, NM_001363400.2:c.928del, NM_001363400.1:c.928del, NM_001363392.2:c.1411del, NM_001363392.1:c.1411del, NM_001363393.2:c.1411del, NM_001363393.1:c.1411del, NM_001363394.2:c.1411del, NM_001363394.1:c.1411del, NM_001363395.2:c.1411del, NM_001363395.1:c.1411del, NM_001363396.2:c.1411del, NM_001363396.1:c.1411del, NM_001363397.2:c.1411del, NM_001363397.1:c.1411del, NM_001363398.2:c.1411del, NM_001363398.1:c.1411del, XM_005250697.6:c.1411del, XM_005250697.5:c.1411del, XM_005250697.4:c.1411del, XM_005250697.3:c.1411del, XM_005250697.2:c.1411del, XM_005250697.1:c.1411del, XM_005250696.6:c.1411del, XM_005250696.5:c.1411del, XM_005250696.4:c.1411del, XM_005250696.3:c.1411del, XM_005250696.2:c.1411del, XM_005250696.1:c.1411del, XM_005250699.6:c.1411del, XM_005250699.5:c.1411del, XM_005250699.4:c.1411del, XM_005250699.3:c.1411del, XM_005250699.2:c.1411del, XM_005250699.1:c.1411del, XM_005250701.6:c.1411del, XM_005250701.5:c.1411del, XM_005250701.4:c.1411del, XM_005250701.3:c.1411del, XM_005250701.2:c.1411del, XM_005250701.1:c.1411del, XM_005250702.6:c.1411del, XM_005250702.5:c.1411del, XM_005250702.4:c.1411del, XM_005250702.3:c.1411del, XM_005250702.2:c.1411del, XM_005250702.1:c.1411del, XM_005250704.6:c.1411del, XM_005250704.5:c.1411del, XM_005250704.4:c.1411del, XM_005250704.3:c.1411del, XM_005250704.2:c.1411del, XM_005250704.1:c.1411del, XM_005250706.6:c.1411del, XM_005250706.5:c.1411del, XM_005250706.4:c.1411del, XM_005250706.3:c.1411del, XM_005250706.2:c.1411del, XM_005250706.1:c.1411del, XM_005250707.6:c.1411del, XM_005250707.5:c.1411del, XM_005250707.4:c.1411del, XM_005250707.3:c.1411del, XM_005250707.2:c.1411del, XM_005250707.1:c.1411del, XM_017012796.3:c.928del, XM_017012796.2:c.928del, XM_017012796.1:c.928del, XM_017012794.3:c.1411del, XM_017012794.2:c.1411del, XM_017012794.1:c.1411del, XM_047421031.1:c.1411del, XM_047421032.1:c.1411del, XM_047421033.1:c.1411del, XM_047421034.1:c.298del, NP_060424.9:p.Asp471fs, NP_001009571.2:p.Asp471fs, NP_001350328.1:p.Asp310fs, NP_001350318.1:p.Asp471fs, NP_001350319.1:p.Asp471fs, NP_001350320.1:p.Asp471fs, NP_001161412.1:p.Asp471fs, NP_001350329.1:p.Asp310fs, NP_001350321.1:p.Asp471fs, NP_001350322.1:p.Asp471fs, NP_001350323.1:p.Asp471fs, NP_001350324.1:p.Asp471fs, NP_001350325.1:p.Asp471fs, NP_001350326.1:p.Asp471fs, NP_001350327.1:p.Asp471fs, XP_005250754.1:p.Asp471fs, XP_005250753.1:p.Asp471fs, XP_005250756.1:p.Asp471fs, XP_005250758.1:p.Asp471fs, XP_005250759.1:p.Asp471fs, XP_005250761.1:p.Asp471fs, XP_005250763.1:p.Asp471fs, XP_005250764.1:p.Asp471fs, XP_016868285.1:p.Asp310fs, XP_016868283.1:p.Asp471fs, XP_047276987.1:p.Asp471fs, XP_047276988.1:p.Asp471fs, XP_047276989.1:p.Asp471fs, XP_047276990.1:p.Asp100fs

              7.

              rs1486529738 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:122490158 (GRCh38)
                7:122130212 (GRCh37)
                Canonical SPDI:
                NC_000007.14:122490157:G:A
                Gene:
                CADPS2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                NC_000007.14:g.122490158G>A, NC_000007.13:g.122130212G>A, NG_016215.2:g.401602C>T, NM_017954.11:c.1775C>T, NM_017954.10:c.1775C>T, NM_001009571.4:c.1775C>T, NM_001009571.3:c.1775C>T, NM_001363399.2:c.1292C>T, NM_001363399.1:c.1292C>T, NM_001363389.2:c.1775C>T, NM_001363389.1:c.1775C>T, NM_001363390.2:c.1775C>T, NM_001363390.1:c.1775C>T, NM_001363391.2:c.1775C>T, NM_001363391.1:c.1775C>T, NM_001167940.2:c.1775C>T, NM_001167940.1:c.1775C>T, NM_001363400.2:c.1292C>T, NM_001363400.1:c.1292C>T, NM_001363392.2:c.1775C>T, NM_001363392.1:c.1775C>T, NM_001363393.2:c.1775C>T, NM_001363393.1:c.1775C>T, NM_001363394.2:c.1775C>T, NM_001363394.1:c.1775C>T, NM_001363395.2:c.1775C>T, NM_001363395.1:c.1775C>T, NM_001363396.2:c.1775C>T, NM_001363396.1:c.1775C>T, NM_001363397.2:c.1775C>T, NM_001363397.1:c.1775C>T, NM_001363398.2:c.1775C>T, NM_001363398.1:c.1775C>T, XM_005250697.6:c.1775C>T, XM_005250697.5:c.1775C>T, XM_005250697.4:c.1775C>T, XM_005250697.3:c.1775C>T, XM_005250697.2:c.1775C>T, XM_005250697.1:c.1775C>T, XM_005250696.6:c.1775C>T, XM_005250696.5:c.1775C>T, XM_005250696.4:c.1775C>T, XM_005250696.3:c.1775C>T, XM_005250696.2:c.1775C>T, XM_005250696.1:c.1775C>T, XM_005250699.6:c.1775C>T, XM_005250699.5:c.1775C>T, XM_005250699.4:c.1775C>T, XM_005250699.3:c.1775C>T, XM_005250699.2:c.1775C>T, XM_005250699.1:c.1775C>T, XM_005250701.6:c.1775C>T, XM_005250701.5:c.1775C>T, XM_005250701.4:c.1775C>T, XM_005250701.3:c.1775C>T, XM_005250701.2:c.1775C>T, XM_005250701.1:c.1775C>T, XM_005250702.6:c.1775C>T, XM_005250702.5:c.1775C>T, XM_005250702.4:c.1775C>T, XM_005250702.3:c.1775C>T, XM_005250702.2:c.1775C>T, XM_005250702.1:c.1775C>T, XM_005250704.6:c.1775C>T, XM_005250704.5:c.1775C>T, XM_005250704.4:c.1775C>T, XM_005250704.3:c.1775C>T, XM_005250704.2:c.1775C>T, XM_005250704.1:c.1775C>T, XM_005250706.6:c.1775C>T, XM_005250706.5:c.1775C>T, XM_005250706.4:c.1775C>T, XM_005250706.3:c.1775C>T, XM_005250706.2:c.1775C>T, XM_005250706.1:c.1775C>T, XM_005250707.6:c.1775C>T, XM_005250707.5:c.1775C>T, XM_005250707.4:c.1775C>T, XM_005250707.3:c.1775C>T, XM_005250707.2:c.1775C>T, XM_005250707.1:c.1775C>T, XM_017012796.3:c.1292C>T, XM_017012796.2:c.1292C>T, XM_017012796.1:c.1292C>T, XM_017012794.3:c.1775C>T, XM_017012794.2:c.1775C>T, XM_017012794.1:c.1775C>T, XM_047421031.1:c.1775C>T, XM_047421032.1:c.1775C>T, XM_047421033.1:c.1775C>T, XM_047421034.1:c.662C>T, NP_060424.9:p.Ser592Leu, NP_001009571.2:p.Ser592Leu, NP_001350328.1:p.Ser431Leu, NP_001350318.1:p.Ser592Leu, NP_001350319.1:p.Ser592Leu, NP_001350320.1:p.Ser592Leu, NP_001161412.1:p.Ser592Leu, NP_001350329.1:p.Ser431Leu, NP_001350321.1:p.Ser592Leu, NP_001350322.1:p.Ser592Leu, NP_001350323.1:p.Ser592Leu, NP_001350324.1:p.Ser592Leu, NP_001350325.1:p.Ser592Leu, NP_001350326.1:p.Ser592Leu, NP_001350327.1:p.Ser592Leu, XP_005250754.1:p.Ser592Leu, XP_005250753.1:p.Ser592Leu, XP_005250756.1:p.Ser592Leu, XP_005250758.1:p.Ser592Leu, XP_005250759.1:p.Ser592Leu, XP_005250761.1:p.Ser592Leu, XP_005250763.1:p.Ser592Leu, XP_005250764.1:p.Ser592Leu, XP_016868285.1:p.Ser431Leu, XP_016868283.1:p.Ser592Leu, XP_047276987.1:p.Ser592Leu, XP_047276988.1:p.Ser592Leu, XP_047276989.1:p.Ser592Leu, XP_047276990.1:p.Ser221Leu

                8.

                rs1485890799 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  7:122886318 (GRCh38)
                  7:122526372 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:122886317:C:A
                  Gene:
                  CADPS2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000007.14:g.122886318C>A, NC_000007.13:g.122526372C>A, NG_016215.2:g.5442G>T, NM_017954.11:c.20G>T, NM_017954.10:c.20G>T, NM_001009571.4:c.20G>T, NM_001009571.3:c.20G>T, NM_001363399.2:c.-516G>T, NM_001363399.1:c.-516G>T, NM_001363389.2:c.20G>T, NM_001363389.1:c.20G>T, NM_001363390.2:c.20G>T, NM_001363390.1:c.20G>T, NM_001363391.2:c.20G>T, NM_001363391.1:c.20G>T, NM_001167940.2:c.20G>T, NM_001167940.1:c.20G>T, NM_001363400.2:c.-516G>T, NM_001363400.1:c.-516G>T, NM_001363392.2:c.20G>T, NM_001363392.1:c.20G>T, NM_001363393.2:c.20G>T, NM_001363393.1:c.20G>T, NM_001363394.2:c.20G>T, NM_001363394.1:c.20G>T, NM_001363395.2:c.20G>T, NM_001363395.1:c.20G>T, NM_001363396.2:c.20G>T, NM_001363396.1:c.20G>T, NM_001363397.2:c.20G>T, NM_001363397.1:c.20G>T, NM_001363398.2:c.20G>T, NM_001363398.1:c.20G>T, XM_005250697.6:c.20G>T, XM_005250697.5:c.20G>T, XM_005250697.4:c.20G>T, XM_005250697.3:c.20G>T, XM_005250697.2:c.20G>T, XM_005250697.1:c.20G>T, XM_005250696.6:c.20G>T, XM_005250696.5:c.20G>T, XM_005250696.4:c.20G>T, XM_005250696.3:c.20G>T, XM_005250696.2:c.20G>T, XM_005250696.1:c.20G>T, XM_005250699.6:c.20G>T, XM_005250699.5:c.20G>T, XM_005250699.4:c.20G>T, XM_005250699.3:c.20G>T, XM_005250699.2:c.20G>T, XM_005250699.1:c.20G>T, XM_005250701.6:c.20G>T, XM_005250701.5:c.20G>T, XM_005250701.4:c.20G>T, XM_005250701.3:c.20G>T, XM_005250701.2:c.20G>T, XM_005250701.1:c.20G>T, XM_005250702.6:c.20G>T, XM_005250702.5:c.20G>T, XM_005250702.4:c.20G>T, XM_005250702.3:c.20G>T, XM_005250702.2:c.20G>T, XM_005250702.1:c.20G>T, XM_005250704.6:c.20G>T, XM_005250704.5:c.20G>T, XM_005250704.4:c.20G>T, XM_005250704.3:c.20G>T, XM_005250704.2:c.20G>T, XM_005250704.1:c.20G>T, XM_005250706.6:c.20G>T, XM_005250706.5:c.20G>T, XM_005250706.4:c.20G>T, XM_005250706.3:c.20G>T, XM_005250706.2:c.20G>T, XM_005250706.1:c.20G>T, XM_005250707.6:c.20G>T, XM_005250707.5:c.20G>T, XM_005250707.4:c.20G>T, XM_005250707.3:c.20G>T, XM_005250707.2:c.20G>T, XM_005250707.1:c.20G>T, XM_017012796.3:c.-516G>T, XM_017012794.3:c.20G>T, XM_017012794.2:c.20G>T, XM_017012794.1:c.20G>T, XM_047421031.1:c.20G>T, XM_047421032.1:c.20G>T, XM_047421033.1:c.20G>T, NP_060424.9:p.Ser7Ile, NP_001009571.2:p.Ser7Ile, NP_001350318.1:p.Ser7Ile, NP_001350319.1:p.Ser7Ile, NP_001350320.1:p.Ser7Ile, NP_001161412.1:p.Ser7Ile, NP_001350321.1:p.Ser7Ile, NP_001350322.1:p.Ser7Ile, NP_001350323.1:p.Ser7Ile, NP_001350324.1:p.Ser7Ile, NP_001350325.1:p.Ser7Ile, NP_001350326.1:p.Ser7Ile, NP_001350327.1:p.Ser7Ile, XP_005250754.1:p.Ser7Ile, XP_005250753.1:p.Ser7Ile, XP_005250756.1:p.Ser7Ile, XP_005250758.1:p.Ser7Ile, XP_005250759.1:p.Ser7Ile, XP_005250761.1:p.Ser7Ile, XP_005250763.1:p.Ser7Ile, XP_005250764.1:p.Ser7Ile, XP_016868283.1:p.Ser7Ile, XP_047276987.1:p.Ser7Ile, XP_047276988.1:p.Ser7Ile, XP_047276989.1:p.Ser7Ile

                  9.

                  rs1484673877 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    7:122451387 (GRCh38)
                    7:122091441 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:122451386:T:A
                    Gene:
                    CADPS2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.122451387T>A, NC_000007.13:g.122091441T>A, NG_016215.2:g.440373A>T, NM_017954.11:c.2275A>T, NM_017954.10:c.2275A>T, NM_001009571.4:c.2266A>T, NM_001009571.3:c.2266A>T, NM_001363399.2:c.1792A>T, NM_001363399.1:c.1792A>T, NM_001363389.2:c.2275A>T, NM_001363389.1:c.2275A>T, NM_001363390.2:c.2275A>T, NM_001363390.1:c.2275A>T, NM_001363391.2:c.2266A>T, NM_001363391.1:c.2266A>T, NM_001167940.2:c.2275A>T, NM_001167940.1:c.2275A>T, NM_001363400.2:c.1792A>T, NM_001363400.1:c.1792A>T, NM_001363392.2:c.2275A>T, NM_001363392.1:c.2275A>T, NM_001363393.2:c.2275A>T, NM_001363393.1:c.2275A>T, NM_001363394.2:c.2275A>T, NM_001363394.1:c.2275A>T, NM_001363395.2:c.2266A>T, NM_001363395.1:c.2266A>T, NM_001363396.2:c.2275A>T, NM_001363396.1:c.2275A>T, NM_001363397.2:c.2275A>T, NM_001363397.1:c.2275A>T, NM_001363398.2:c.2266A>T, NM_001363398.1:c.2266A>T, XM_005250697.6:c.2266A>T, XM_005250697.5:c.2266A>T, XM_005250697.4:c.2266A>T, XM_005250697.3:c.2266A>T, XM_005250697.2:c.2266A>T, XM_005250697.1:c.2266A>T, XM_005250696.6:c.2275A>T, XM_005250696.5:c.2275A>T, XM_005250696.4:c.2275A>T, XM_005250696.3:c.2275A>T, XM_005250696.2:c.2275A>T, XM_005250696.1:c.2275A>T, XM_005250699.6:c.2275A>T, XM_005250699.5:c.2275A>T, XM_005250699.4:c.2275A>T, XM_005250699.3:c.2275A>T, XM_005250699.2:c.2275A>T, XM_005250699.1:c.2275A>T, XM_005250701.6:c.2275A>T, XM_005250701.5:c.2275A>T, XM_005250701.4:c.2275A>T, XM_005250701.3:c.2275A>T, XM_005250701.2:c.2275A>T, XM_005250701.1:c.2275A>T, XM_005250702.6:c.2266A>T, XM_005250702.5:c.2266A>T, XM_005250702.4:c.2266A>T, XM_005250702.3:c.2266A>T, XM_005250702.2:c.2266A>T, XM_005250702.1:c.2266A>T, XM_005250704.6:c.2275A>T, XM_005250704.5:c.2275A>T, XM_005250704.4:c.2275A>T, XM_005250704.3:c.2275A>T, XM_005250704.2:c.2275A>T, XM_005250704.1:c.2275A>T, XM_005250706.6:c.2266A>T, XM_005250706.5:c.2266A>T, XM_005250706.4:c.2266A>T, XM_005250706.3:c.2266A>T, XM_005250706.2:c.2266A>T, XM_005250706.1:c.2266A>T, XM_005250707.6:c.2275A>T, XM_005250707.5:c.2275A>T, XM_005250707.4:c.2275A>T, XM_005250707.3:c.2275A>T, XM_005250707.2:c.2275A>T, XM_005250707.1:c.2275A>T, XM_017012796.3:c.1792A>T, XM_017012796.2:c.1792A>T, XM_017012796.1:c.1792A>T, XM_017012794.3:c.2266A>T, XM_017012794.2:c.2266A>T, XM_017012794.1:c.2266A>T, XM_047421031.1:c.2266A>T, XM_047421032.1:c.2266A>T, XM_047421033.1:c.2266A>T, XM_047421034.1:c.1162A>T, NP_060424.9:p.Ile759Leu, NP_001009571.2:p.Ile756Leu, NP_001350328.1:p.Ile598Leu, NP_001350318.1:p.Ile759Leu, NP_001350319.1:p.Ile759Leu, NP_001350320.1:p.Ile756Leu, NP_001161412.1:p.Ile759Leu, NP_001350329.1:p.Ile598Leu, NP_001350321.1:p.Ile759Leu, NP_001350322.1:p.Ile759Leu, NP_001350323.1:p.Ile759Leu, NP_001350324.1:p.Ile756Leu, NP_001350325.1:p.Ile759Leu, NP_001350326.1:p.Ile759Leu, NP_001350327.1:p.Ile756Leu, XP_005250754.1:p.Ile756Leu, XP_005250753.1:p.Ile759Leu, XP_005250756.1:p.Ile759Leu, XP_005250758.1:p.Ile759Leu, XP_005250759.1:p.Ile756Leu, XP_005250761.1:p.Ile759Leu, XP_005250763.1:p.Ile756Leu, XP_005250764.1:p.Ile759Leu, XP_016868285.1:p.Ile598Leu, XP_016868283.1:p.Ile756Leu, XP_047276987.1:p.Ile756Leu, XP_047276988.1:p.Ile756Leu, XP_047276989.1:p.Ile756Leu, XP_047276990.1:p.Ile388Leu

                    10.

                    rs1484240411 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:122663403 (GRCh38)
                      7:122303457 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:122663402:T:C
                      Gene:
                      CADPS2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000007.14:g.122663403T>C, NC_000007.13:g.122303457T>C, NG_016215.2:g.228357A>G, NM_017954.11:c.620A>G, NM_017954.10:c.620A>G, NM_001009571.4:c.620A>G, NM_001009571.3:c.620A>G, NM_001363399.2:c.137A>G, NM_001363399.1:c.137A>G, NM_001363389.2:c.620A>G, NM_001363389.1:c.620A>G, NM_001363390.2:c.620A>G, NM_001363390.1:c.620A>G, NM_001363391.2:c.620A>G, NM_001363391.1:c.620A>G, NM_001167940.2:c.620A>G, NM_001167940.1:c.620A>G, NM_001363400.2:c.137A>G, NM_001363400.1:c.137A>G, NM_001363392.2:c.620A>G, NM_001363392.1:c.620A>G, NM_001363393.2:c.620A>G, NM_001363393.1:c.620A>G, NM_001363394.2:c.620A>G, NM_001363394.1:c.620A>G, NM_001363395.2:c.620A>G, NM_001363395.1:c.620A>G, NM_001363396.2:c.620A>G, NM_001363396.1:c.620A>G, NM_001363397.2:c.620A>G, NM_001363397.1:c.620A>G, NM_001363398.2:c.620A>G, NM_001363398.1:c.620A>G, XM_005250697.6:c.620A>G, XM_005250697.5:c.620A>G, XM_005250697.4:c.620A>G, XM_005250697.3:c.620A>G, XM_005250697.2:c.620A>G, XM_005250697.1:c.620A>G, XM_005250696.6:c.620A>G, XM_005250696.5:c.620A>G, XM_005250696.4:c.620A>G, XM_005250696.3:c.620A>G, XM_005250696.2:c.620A>G, XM_005250696.1:c.620A>G, XM_005250699.6:c.620A>G, XM_005250699.5:c.620A>G, XM_005250699.4:c.620A>G, XM_005250699.3:c.620A>G, XM_005250699.2:c.620A>G, XM_005250699.1:c.620A>G, XM_005250701.6:c.620A>G, XM_005250701.5:c.620A>G, XM_005250701.4:c.620A>G, XM_005250701.3:c.620A>G, XM_005250701.2:c.620A>G, XM_005250701.1:c.620A>G, XM_005250702.6:c.620A>G, XM_005250702.5:c.620A>G, XM_005250702.4:c.620A>G, XM_005250702.3:c.620A>G, XM_005250702.2:c.620A>G, XM_005250702.1:c.620A>G, XM_005250704.6:c.620A>G, XM_005250704.5:c.620A>G, XM_005250704.4:c.620A>G, XM_005250704.3:c.620A>G, XM_005250704.2:c.620A>G, XM_005250704.1:c.620A>G, XM_005250706.6:c.620A>G, XM_005250706.5:c.620A>G, XM_005250706.4:c.620A>G, XM_005250706.3:c.620A>G, XM_005250706.2:c.620A>G, XM_005250706.1:c.620A>G, XM_005250707.6:c.620A>G, XM_005250707.5:c.620A>G, XM_005250707.4:c.620A>G, XM_005250707.3:c.620A>G, XM_005250707.2:c.620A>G, XM_005250707.1:c.620A>G, XM_017012796.3:c.137A>G, XM_017012796.2:c.137A>G, XM_017012796.1:c.137A>G, XM_017012794.3:c.620A>G, XM_017012794.2:c.620A>G, XM_017012794.1:c.620A>G, XM_047421031.1:c.620A>G, XM_047421032.1:c.620A>G, XM_047421033.1:c.620A>G, NP_060424.9:p.Tyr207Cys, NP_001009571.2:p.Tyr207Cys, NP_001350328.1:p.Tyr46Cys, NP_001350318.1:p.Tyr207Cys, NP_001350319.1:p.Tyr207Cys, NP_001350320.1:p.Tyr207Cys, NP_001161412.1:p.Tyr207Cys, NP_001350329.1:p.Tyr46Cys, NP_001350321.1:p.Tyr207Cys, NP_001350322.1:p.Tyr207Cys, NP_001350323.1:p.Tyr207Cys, NP_001350324.1:p.Tyr207Cys, NP_001350325.1:p.Tyr207Cys, NP_001350326.1:p.Tyr207Cys, NP_001350327.1:p.Tyr207Cys, XP_005250754.1:p.Tyr207Cys, XP_005250753.1:p.Tyr207Cys, XP_005250756.1:p.Tyr207Cys, XP_005250758.1:p.Tyr207Cys, XP_005250759.1:p.Tyr207Cys, XP_005250761.1:p.Tyr207Cys, XP_005250763.1:p.Tyr207Cys, XP_005250764.1:p.Tyr207Cys, XP_016868285.1:p.Tyr46Cys, XP_016868283.1:p.Tyr207Cys, XP_047276987.1:p.Tyr207Cys, XP_047276988.1:p.Tyr207Cys, XP_047276989.1:p.Tyr207Cys

                      11.

                      rs1483884932 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        7:122629266 (GRCh38)
                        7:122269320 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:122629265:C:A
                        Gene:
                        CADPS2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.122629266C>A, NC_000007.13:g.122269320C>A, NG_016215.2:g.262494G>T, NM_017954.11:c.849G>T, NM_017954.10:c.849G>T, NM_001009571.4:c.849G>T, NM_001009571.3:c.849G>T, NM_001363399.2:c.366G>T, NM_001363399.1:c.366G>T, NM_001363389.2:c.849G>T, NM_001363389.1:c.849G>T, NM_001363390.2:c.849G>T, NM_001363390.1:c.849G>T, NM_001363391.2:c.849G>T, NM_001363391.1:c.849G>T, NM_001167940.2:c.849G>T, NM_001167940.1:c.849G>T, NM_001363400.2:c.366G>T, NM_001363400.1:c.366G>T, NM_001363392.2:c.849G>T, NM_001363392.1:c.849G>T, NM_001363393.2:c.849G>T, NM_001363393.1:c.849G>T, NM_001363394.2:c.849G>T, NM_001363394.1:c.849G>T, NM_001363395.2:c.849G>T, NM_001363395.1:c.849G>T, NM_001363396.2:c.849G>T, NM_001363396.1:c.849G>T, NM_001363397.2:c.849G>T, NM_001363397.1:c.849G>T, NM_001363398.2:c.849G>T, NM_001363398.1:c.849G>T, XM_005250697.6:c.849G>T, XM_005250697.5:c.849G>T, XM_005250697.4:c.849G>T, XM_005250697.3:c.849G>T, XM_005250697.2:c.849G>T, XM_005250697.1:c.849G>T, XM_005250696.6:c.849G>T, XM_005250696.5:c.849G>T, XM_005250696.4:c.849G>T, XM_005250696.3:c.849G>T, XM_005250696.2:c.849G>T, XM_005250696.1:c.849G>T, XM_005250699.6:c.849G>T, XM_005250699.5:c.849G>T, XM_005250699.4:c.849G>T, XM_005250699.3:c.849G>T, XM_005250699.2:c.849G>T, XM_005250699.1:c.849G>T, XM_005250701.6:c.849G>T, XM_005250701.5:c.849G>T, XM_005250701.4:c.849G>T, XM_005250701.3:c.849G>T, XM_005250701.2:c.849G>T, XM_005250701.1:c.849G>T, XM_005250702.6:c.849G>T, XM_005250702.5:c.849G>T, XM_005250702.4:c.849G>T, XM_005250702.3:c.849G>T, XM_005250702.2:c.849G>T, XM_005250702.1:c.849G>T, XM_005250704.6:c.849G>T, XM_005250704.5:c.849G>T, XM_005250704.4:c.849G>T, XM_005250704.3:c.849G>T, XM_005250704.2:c.849G>T, XM_005250704.1:c.849G>T, XM_005250706.6:c.849G>T, XM_005250706.5:c.849G>T, XM_005250706.4:c.849G>T, XM_005250706.3:c.849G>T, XM_005250706.2:c.849G>T, XM_005250706.1:c.849G>T, XM_005250707.6:c.849G>T, XM_005250707.5:c.849G>T, XM_005250707.4:c.849G>T, XM_005250707.3:c.849G>T, XM_005250707.2:c.849G>T, XM_005250707.1:c.849G>T, XM_017012796.3:c.366G>T, XM_017012796.2:c.366G>T, XM_017012796.1:c.366G>T, XM_017012794.3:c.849G>T, XM_017012794.2:c.849G>T, XM_017012794.1:c.849G>T, XM_047421031.1:c.849G>T, XM_047421032.1:c.849G>T, XM_047421033.1:c.849G>T, NP_060424.9:p.Leu283Phe, NP_001009571.2:p.Leu283Phe, NP_001350328.1:p.Leu122Phe, NP_001350318.1:p.Leu283Phe, NP_001350319.1:p.Leu283Phe, NP_001350320.1:p.Leu283Phe, NP_001161412.1:p.Leu283Phe, NP_001350329.1:p.Leu122Phe, NP_001350321.1:p.Leu283Phe, NP_001350322.1:p.Leu283Phe, NP_001350323.1:p.Leu283Phe, NP_001350324.1:p.Leu283Phe, NP_001350325.1:p.Leu283Phe, NP_001350326.1:p.Leu283Phe, NP_001350327.1:p.Leu283Phe, XP_005250754.1:p.Leu283Phe, XP_005250753.1:p.Leu283Phe, XP_005250756.1:p.Leu283Phe, XP_005250758.1:p.Leu283Phe, XP_005250759.1:p.Leu283Phe, XP_005250761.1:p.Leu283Phe, XP_005250763.1:p.Leu283Phe, XP_005250764.1:p.Leu283Phe, XP_016868285.1:p.Leu122Phe, XP_016868283.1:p.Leu283Phe, XP_047276987.1:p.Leu283Phe, XP_047276988.1:p.Leu283Phe, XP_047276989.1:p.Leu283Phe

                        12.

                        rs1483797517 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:122388641 (GRCh38)
                          7:122028695 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:122388640:G:A
                          Gene:
                          CADPS2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000007.14:g.122388641G>A, NC_000007.13:g.122028695G>A, NG_016215.2:g.503119C>T, NM_017954.11:c.3106C>T, NM_017954.10:c.3106C>T, NM_001009571.4:c.2968C>T, NM_001009571.3:c.2968C>T, NM_001363399.2:c.2644C>T, NM_001363399.1:c.2644C>T, NM_001363389.2:c.3127C>T, NM_001363389.1:c.3127C>T, NM_001363390.2:c.3127C>T, NM_001363390.1:c.3127C>T, NM_001363391.2:c.3118C>T, NM_001363391.1:c.3118C>T, NM_001167940.2:c.3118C>T, NM_001167940.1:c.3118C>T, NM_001363400.2:c.2524C>T, NM_001363400.1:c.2524C>T, NM_001363392.2:c.3007C>T, NM_001363392.1:c.3007C>T, NM_001363393.2:c.3007C>T, NM_001363393.1:c.3007C>T, NM_001363394.2:c.2998C>T, NM_001363394.1:c.2998C>T, NM_001363395.2:c.2989C>T, NM_001363395.1:c.2989C>T, NM_001363396.2:c.2986C>T, NM_001363396.1:c.2986C>T, NM_001363397.2:c.2977C>T, NM_001363397.1:c.2977C>T, NM_001363398.2:c.2968C>T, NM_001363398.1:c.2968C>T, XM_005250697.6:c.3118C>T, XM_005250697.5:c.3118C>T, XM_005250697.4:c.3118C>T, XM_005250697.3:c.3118C>T, XM_005250697.2:c.3118C>T, XM_005250697.1:c.3118C>T, XM_005250696.6:c.3118C>T, XM_005250696.5:c.3118C>T, XM_005250696.4:c.3118C>T, XM_005250696.3:c.3118C>T, XM_005250696.2:c.3118C>T, XM_005250696.1:c.3118C>T, XM_005250699.6:c.3106C>T, XM_005250699.5:c.3106C>T, XM_005250699.4:c.3106C>T, XM_005250699.3:c.3106C>T, XM_005250699.2:c.3106C>T, XM_005250699.1:c.3106C>T, XM_005250701.6:c.3097C>T, XM_005250701.5:c.3097C>T, XM_005250701.4:c.3097C>T, XM_005250701.3:c.3097C>T, XM_005250701.2:c.3097C>T, XM_005250701.1:c.3097C>T, XM_005250702.6:c.3097C>T, XM_005250702.5:c.3097C>T, XM_005250702.4:c.3097C>T, XM_005250702.3:c.3097C>T, XM_005250702.2:c.3097C>T, XM_005250702.1:c.3097C>T, XM_005250704.6:c.2998C>T, XM_005250704.5:c.2998C>T, XM_005250704.4:c.2998C>T, XM_005250704.3:c.2998C>T, XM_005250704.2:c.2998C>T, XM_005250704.1:c.2998C>T, XM_005250706.6:c.2998C>T, XM_005250706.5:c.2998C>T, XM_005250706.4:c.2998C>T, XM_005250706.3:c.2998C>T, XM_005250706.2:c.2998C>T, XM_005250706.1:c.2998C>T, XM_005250707.6:c.2977C>T, XM_005250707.5:c.2977C>T, XM_005250707.4:c.2977C>T, XM_005250707.3:c.2977C>T, XM_005250707.2:c.2977C>T, XM_005250707.1:c.2977C>T, XM_017012796.3:c.2644C>T, XM_017012796.2:c.2644C>T, XM_017012796.1:c.2644C>T, XM_017012794.3:c.3088C>T, XM_017012794.2:c.3088C>T, XM_017012794.1:c.3088C>T, XM_047421031.1:c.3097C>T, XM_047421032.1:c.3088C>T, XM_047421033.1:c.2989C>T, XM_047421034.1:c.2014C>T, NP_060424.9:p.His1036Tyr, NP_001009571.2:p.His990Tyr, NP_001350328.1:p.His882Tyr, NP_001350318.1:p.His1043Tyr, NP_001350319.1:p.His1043Tyr, NP_001350320.1:p.His1040Tyr, NP_001161412.1:p.His1040Tyr, NP_001350329.1:p.His842Tyr, NP_001350321.1:p.His1003Tyr, NP_001350322.1:p.His1003Tyr, NP_001350323.1:p.His1000Tyr, NP_001350324.1:p.His997Tyr, NP_001350325.1:p.His996Tyr, NP_001350326.1:p.His993Tyr, NP_001350327.1:p.His990Tyr, XP_005250754.1:p.His1040Tyr, XP_005250753.1:p.His1040Tyr, XP_005250756.1:p.His1036Tyr, XP_005250758.1:p.His1033Tyr, XP_005250759.1:p.His1033Tyr, XP_005250761.1:p.His1000Tyr, XP_005250763.1:p.His1000Tyr, XP_005250764.1:p.His993Tyr, XP_016868285.1:p.His882Tyr, XP_016868283.1:p.His1030Tyr, XP_047276987.1:p.His1033Tyr, XP_047276988.1:p.His1030Tyr, XP_047276989.1:p.His997Tyr, XP_047276990.1:p.His672Tyr

                          13.

                          rs1482486438 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:122663289 (GRCh38)
                            7:122303343 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:122663288:T:C
                            Gene:
                            CADPS2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000007.14:g.122663289T>C, NC_000007.13:g.122303343T>C, NG_016215.2:g.228471A>G, NM_017954.11:c.734A>G, NM_017954.10:c.734A>G, NM_001009571.4:c.734A>G, NM_001009571.3:c.734A>G, NM_001363399.2:c.251A>G, NM_001363399.1:c.251A>G, NM_001363389.2:c.734A>G, NM_001363389.1:c.734A>G, NM_001363390.2:c.734A>G, NM_001363390.1:c.734A>G, NM_001363391.2:c.734A>G, NM_001363391.1:c.734A>G, NM_001167940.2:c.734A>G, NM_001167940.1:c.734A>G, NM_001363400.2:c.251A>G, NM_001363400.1:c.251A>G, NM_001363392.2:c.734A>G, NM_001363392.1:c.734A>G, NM_001363393.2:c.734A>G, NM_001363393.1:c.734A>G, NM_001363394.2:c.734A>G, NM_001363394.1:c.734A>G, NM_001363395.2:c.734A>G, NM_001363395.1:c.734A>G, NM_001363396.2:c.734A>G, NM_001363396.1:c.734A>G, NM_001363397.2:c.734A>G, NM_001363397.1:c.734A>G, NM_001363398.2:c.734A>G, NM_001363398.1:c.734A>G, XM_005250697.6:c.734A>G, XM_005250697.5:c.734A>G, XM_005250697.4:c.734A>G, XM_005250697.3:c.734A>G, XM_005250697.2:c.734A>G, XM_005250697.1:c.734A>G, XM_005250696.6:c.734A>G, XM_005250696.5:c.734A>G, XM_005250696.4:c.734A>G, XM_005250696.3:c.734A>G, XM_005250696.2:c.734A>G, XM_005250696.1:c.734A>G, XM_005250699.6:c.734A>G, XM_005250699.5:c.734A>G, XM_005250699.4:c.734A>G, XM_005250699.3:c.734A>G, XM_005250699.2:c.734A>G, XM_005250699.1:c.734A>G, XM_005250701.6:c.734A>G, XM_005250701.5:c.734A>G, XM_005250701.4:c.734A>G, XM_005250701.3:c.734A>G, XM_005250701.2:c.734A>G, XM_005250701.1:c.734A>G, XM_005250702.6:c.734A>G, XM_005250702.5:c.734A>G, XM_005250702.4:c.734A>G, XM_005250702.3:c.734A>G, XM_005250702.2:c.734A>G, XM_005250702.1:c.734A>G, XM_005250704.6:c.734A>G, XM_005250704.5:c.734A>G, XM_005250704.4:c.734A>G, XM_005250704.3:c.734A>G, XM_005250704.2:c.734A>G, XM_005250704.1:c.734A>G, XM_005250706.6:c.734A>G, XM_005250706.5:c.734A>G, XM_005250706.4:c.734A>G, XM_005250706.3:c.734A>G, XM_005250706.2:c.734A>G, XM_005250706.1:c.734A>G, XM_005250707.6:c.734A>G, XM_005250707.5:c.734A>G, XM_005250707.4:c.734A>G, XM_005250707.3:c.734A>G, XM_005250707.2:c.734A>G, XM_005250707.1:c.734A>G, XM_017012796.3:c.251A>G, XM_017012796.2:c.251A>G, XM_017012796.1:c.251A>G, XM_017012794.3:c.734A>G, XM_017012794.2:c.734A>G, XM_017012794.1:c.734A>G, XM_047421031.1:c.734A>G, XM_047421032.1:c.734A>G, XM_047421033.1:c.734A>G, NP_060424.9:p.Gln245Arg, NP_001009571.2:p.Gln245Arg, NP_001350328.1:p.Gln84Arg, NP_001350318.1:p.Gln245Arg, NP_001350319.1:p.Gln245Arg, NP_001350320.1:p.Gln245Arg, NP_001161412.1:p.Gln245Arg, NP_001350329.1:p.Gln84Arg, NP_001350321.1:p.Gln245Arg, NP_001350322.1:p.Gln245Arg, NP_001350323.1:p.Gln245Arg, NP_001350324.1:p.Gln245Arg, NP_001350325.1:p.Gln245Arg, NP_001350326.1:p.Gln245Arg, NP_001350327.1:p.Gln245Arg, XP_005250754.1:p.Gln245Arg, XP_005250753.1:p.Gln245Arg, XP_005250756.1:p.Gln245Arg, XP_005250758.1:p.Gln245Arg, XP_005250759.1:p.Gln245Arg, XP_005250761.1:p.Gln245Arg, XP_005250763.1:p.Gln245Arg, XP_005250764.1:p.Gln245Arg, XP_016868285.1:p.Gln84Arg, XP_016868283.1:p.Gln245Arg, XP_047276987.1:p.Gln245Arg, XP_047276988.1:p.Gln245Arg, XP_047276989.1:p.Gln245Arg

                            14.

                            rs1481518862 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:122416144 (GRCh38)
                              7:122056198 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:122416143:G:A
                              Gene:
                              CADPS2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000047/1 (ALFA)
                              A=0.000012/2 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.122416144G>A, NC_000007.13:g.122056198G>A, NG_016215.2:g.475616C>T, NM_017954.11:c.2497C>T, NM_017954.10:c.2497C>T, NM_001009571.4:c.2488C>T, NM_001009571.3:c.2488C>T, NM_001363399.2:c.2035C>T, NM_001363399.1:c.2035C>T, NM_001363389.2:c.2518C>T, NM_001363389.1:c.2518C>T, NM_001363390.2:c.2518C>T, NM_001363390.1:c.2518C>T, NM_001363391.2:c.2509C>T, NM_001363391.1:c.2509C>T, NM_001167940.2:c.2518C>T, NM_001167940.1:c.2518C>T, NM_001363400.2:c.2035C>T, NM_001363400.1:c.2035C>T, NM_001363392.2:c.2518C>T, NM_001363392.1:c.2518C>T, NM_001363393.2:c.2518C>T, NM_001363393.1:c.2518C>T, NM_001363394.2:c.2518C>T, NM_001363394.1:c.2518C>T, NM_001363395.2:c.2509C>T, NM_001363395.1:c.2509C>T, NM_001363396.2:c.2497C>T, NM_001363396.1:c.2497C>T, NM_001363397.2:c.2497C>T, NM_001363397.1:c.2497C>T, NM_001363398.2:c.2488C>T, NM_001363398.1:c.2488C>T, XM_005250697.6:c.2509C>T, XM_005250697.5:c.2509C>T, XM_005250697.4:c.2509C>T, XM_005250697.3:c.2509C>T, XM_005250697.2:c.2509C>T, XM_005250697.1:c.2509C>T, XM_005250696.6:c.2518C>T, XM_005250696.5:c.2518C>T, XM_005250696.4:c.2518C>T, XM_005250696.3:c.2518C>T, XM_005250696.2:c.2518C>T, XM_005250696.1:c.2518C>T, XM_005250699.6:c.2497C>T, XM_005250699.5:c.2497C>T, XM_005250699.4:c.2497C>T, XM_005250699.3:c.2497C>T, XM_005250699.2:c.2497C>T, XM_005250699.1:c.2497C>T, XM_005250701.6:c.2497C>T, XM_005250701.5:c.2497C>T, XM_005250701.4:c.2497C>T, XM_005250701.3:c.2497C>T, XM_005250701.2:c.2497C>T, XM_005250701.1:c.2497C>T, XM_005250702.6:c.2488C>T, XM_005250702.5:c.2488C>T, XM_005250702.4:c.2488C>T, XM_005250702.3:c.2488C>T, XM_005250702.2:c.2488C>T, XM_005250702.1:c.2488C>T, XM_005250704.6:c.2518C>T, XM_005250704.5:c.2518C>T, XM_005250704.4:c.2518C>T, XM_005250704.3:c.2518C>T, XM_005250704.2:c.2518C>T, XM_005250704.1:c.2518C>T, XM_005250706.6:c.2509C>T, XM_005250706.5:c.2509C>T, XM_005250706.4:c.2509C>T, XM_005250706.3:c.2509C>T, XM_005250706.2:c.2509C>T, XM_005250706.1:c.2509C>T, XM_005250707.6:c.2497C>T, XM_005250707.5:c.2497C>T, XM_005250707.4:c.2497C>T, XM_005250707.3:c.2497C>T, XM_005250707.2:c.2497C>T, XM_005250707.1:c.2497C>T, XM_017012796.3:c.2035C>T, XM_017012796.2:c.2035C>T, XM_017012796.1:c.2035C>T, XM_017012794.3:c.2488C>T, XM_017012794.2:c.2488C>T, XM_017012794.1:c.2488C>T, XM_047421031.1:c.2488C>T, XM_047421032.1:c.2488C>T, XM_047421033.1:c.2509C>T, XM_047421034.1:c.1405C>T, NP_060424.9:p.Pro833Ser, NP_001009571.2:p.Pro830Ser, NP_001350328.1:p.Pro679Ser, NP_001350318.1:p.Pro840Ser, NP_001350319.1:p.Pro840Ser, NP_001350320.1:p.Pro837Ser, NP_001161412.1:p.Pro840Ser, NP_001350329.1:p.Pro679Ser, NP_001350321.1:p.Pro840Ser, NP_001350322.1:p.Pro840Ser, NP_001350323.1:p.Pro840Ser, NP_001350324.1:p.Pro837Ser, NP_001350325.1:p.Pro833Ser, NP_001350326.1:p.Pro833Ser, NP_001350327.1:p.Pro830Ser, XP_005250754.1:p.Pro837Ser, XP_005250753.1:p.Pro840Ser, XP_005250756.1:p.Pro833Ser, XP_005250758.1:p.Pro833Ser, XP_005250759.1:p.Pro830Ser, XP_005250761.1:p.Pro840Ser, XP_005250763.1:p.Pro837Ser, XP_005250764.1:p.Pro833Ser, XP_016868285.1:p.Pro679Ser, XP_016868283.1:p.Pro830Ser, XP_047276987.1:p.Pro830Ser, XP_047276988.1:p.Pro830Ser, XP_047276989.1:p.Pro837Ser, XP_047276990.1:p.Pro469Ser

                              15.

                              rs1481406638 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:122393504 (GRCh38)
                                7:122033558 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:122393503:A:G
                                Gene:
                                CADPS2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.122393504A>G, NC_000007.13:g.122033558A>G, NG_016215.2:g.498256T>C, NM_017954.11:c.2825T>C, NM_017954.10:c.2825T>C, NM_001009571.4:c.2807T>C, NM_001009571.3:c.2807T>C, NM_001363399.2:c.2363T>C, NM_001363399.1:c.2363T>C, NM_001363389.2:c.2846T>C, NM_001363389.1:c.2846T>C, NM_001363390.2:c.2846T>C, NM_001363390.1:c.2846T>C, NM_001363391.2:c.2837T>C, NM_001363391.1:c.2837T>C, NM_001167940.2:c.2837T>C, NM_001167940.1:c.2837T>C, NM_001363400.2:c.2363T>C, NM_001363400.1:c.2363T>C, NM_001363392.2:c.2846T>C, NM_001363392.1:c.2846T>C, NM_001363393.2:c.2846T>C, NM_001363393.1:c.2846T>C, NM_001363394.2:c.2837T>C, NM_001363394.1:c.2837T>C, NM_001363395.2:c.2828T>C, NM_001363395.1:c.2828T>C, NM_001363396.2:c.2825T>C, NM_001363396.1:c.2825T>C, NM_001363397.2:c.2816T>C, NM_001363397.1:c.2816T>C, NM_001363398.2:c.2807T>C, NM_001363398.1:c.2807T>C, XM_005250697.6:c.2837T>C, XM_005250697.5:c.2837T>C, XM_005250697.4:c.2837T>C, XM_005250697.3:c.2837T>C, XM_005250697.2:c.2837T>C, XM_005250697.1:c.2837T>C, XM_005250696.6:c.2837T>C, XM_005250696.5:c.2837T>C, XM_005250696.4:c.2837T>C, XM_005250696.3:c.2837T>C, XM_005250696.2:c.2837T>C, XM_005250696.1:c.2837T>C, XM_005250699.6:c.2825T>C, XM_005250699.5:c.2825T>C, XM_005250699.4:c.2825T>C, XM_005250699.3:c.2825T>C, XM_005250699.2:c.2825T>C, XM_005250699.1:c.2825T>C, XM_005250701.6:c.2816T>C, XM_005250701.5:c.2816T>C, XM_005250701.4:c.2816T>C, XM_005250701.3:c.2816T>C, XM_005250701.2:c.2816T>C, XM_005250701.1:c.2816T>C, XM_005250702.6:c.2816T>C, XM_005250702.5:c.2816T>C, XM_005250702.4:c.2816T>C, XM_005250702.3:c.2816T>C, XM_005250702.2:c.2816T>C, XM_005250702.1:c.2816T>C, XM_005250704.6:c.2837T>C, XM_005250704.5:c.2837T>C, XM_005250704.4:c.2837T>C, XM_005250704.3:c.2837T>C, XM_005250704.2:c.2837T>C, XM_005250704.1:c.2837T>C, XM_005250706.6:c.2837T>C, XM_005250706.5:c.2837T>C, XM_005250706.4:c.2837T>C, XM_005250706.3:c.2837T>C, XM_005250706.2:c.2837T>C, XM_005250706.1:c.2837T>C, XM_005250707.6:c.2816T>C, XM_005250707.5:c.2816T>C, XM_005250707.4:c.2816T>C, XM_005250707.3:c.2816T>C, XM_005250707.2:c.2816T>C, XM_005250707.1:c.2816T>C, XM_017012796.3:c.2363T>C, XM_017012796.2:c.2363T>C, XM_017012796.1:c.2363T>C, XM_017012794.3:c.2807T>C, XM_017012794.2:c.2807T>C, XM_017012794.1:c.2807T>C, XM_047421031.1:c.2816T>C, XM_047421032.1:c.2807T>C, XM_047421033.1:c.2828T>C, XM_047421034.1:c.1733T>C, NP_060424.9:p.Met942Thr, NP_001009571.2:p.Met936Thr, NP_001350328.1:p.Met788Thr, NP_001350318.1:p.Met949Thr, NP_001350319.1:p.Met949Thr, NP_001350320.1:p.Met946Thr, NP_001161412.1:p.Met946Thr, NP_001350329.1:p.Met788Thr, NP_001350321.1:p.Met949Thr, NP_001350322.1:p.Met949Thr, NP_001350323.1:p.Met946Thr, NP_001350324.1:p.Met943Thr, NP_001350325.1:p.Met942Thr, NP_001350326.1:p.Met939Thr, NP_001350327.1:p.Met936Thr, XP_005250754.1:p.Met946Thr, XP_005250753.1:p.Met946Thr, XP_005250756.1:p.Met942Thr, XP_005250758.1:p.Met939Thr, XP_005250759.1:p.Met939Thr, XP_005250761.1:p.Met946Thr, XP_005250763.1:p.Met946Thr, XP_005250764.1:p.Met939Thr, XP_016868285.1:p.Met788Thr, XP_016868283.1:p.Met936Thr, XP_047276987.1:p.Met939Thr, XP_047276988.1:p.Met936Thr, XP_047276989.1:p.Met943Thr, XP_047276990.1:p.Met578Thr

                                16.

                                rs1480383661 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  7:122471379 (GRCh38)
                                  7:122111433 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:122471378:T:C
                                  Gene:
                                  CADPS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.122471379T>C, NC_000007.13:g.122111433T>C, NG_016215.2:g.420381A>G, NM_017954.11:c.2182A>G, NM_017954.10:c.2182A>G, NM_001009571.4:c.2173A>G, NM_001009571.3:c.2173A>G, NM_001363399.2:c.1699A>G, NM_001363399.1:c.1699A>G, NM_001363389.2:c.2182A>G, NM_001363389.1:c.2182A>G, NM_001363390.2:c.2182A>G, NM_001363390.1:c.2182A>G, NM_001363391.2:c.2173A>G, NM_001363391.1:c.2173A>G, NM_001167940.2:c.2182A>G, NM_001167940.1:c.2182A>G, NM_001363400.2:c.1699A>G, NM_001363400.1:c.1699A>G, NM_001363392.2:c.2182A>G, NM_001363392.1:c.2182A>G, NM_001363393.2:c.2182A>G, NM_001363393.1:c.2182A>G, NM_001363394.2:c.2182A>G, NM_001363394.1:c.2182A>G, NM_001363395.2:c.2173A>G, NM_001363395.1:c.2173A>G, NM_001363396.2:c.2182A>G, NM_001363396.1:c.2182A>G, NM_001363397.2:c.2182A>G, NM_001363397.1:c.2182A>G, NM_001363398.2:c.2173A>G, NM_001363398.1:c.2173A>G, XM_005250697.6:c.2173A>G, XM_005250697.5:c.2173A>G, XM_005250697.4:c.2173A>G, XM_005250697.3:c.2173A>G, XM_005250697.2:c.2173A>G, XM_005250697.1:c.2173A>G, XM_005250696.6:c.2182A>G, XM_005250696.5:c.2182A>G, XM_005250696.4:c.2182A>G, XM_005250696.3:c.2182A>G, XM_005250696.2:c.2182A>G, XM_005250696.1:c.2182A>G, XM_005250699.6:c.2182A>G, XM_005250699.5:c.2182A>G, XM_005250699.4:c.2182A>G, XM_005250699.3:c.2182A>G, XM_005250699.2:c.2182A>G, XM_005250699.1:c.2182A>G, XM_005250701.6:c.2182A>G, XM_005250701.5:c.2182A>G, XM_005250701.4:c.2182A>G, XM_005250701.3:c.2182A>G, XM_005250701.2:c.2182A>G, XM_005250701.1:c.2182A>G, XM_005250702.6:c.2173A>G, XM_005250702.5:c.2173A>G, XM_005250702.4:c.2173A>G, XM_005250702.3:c.2173A>G, XM_005250702.2:c.2173A>G, XM_005250702.1:c.2173A>G, XM_005250704.6:c.2182A>G, XM_005250704.5:c.2182A>G, XM_005250704.4:c.2182A>G, XM_005250704.3:c.2182A>G, XM_005250704.2:c.2182A>G, XM_005250704.1:c.2182A>G, XM_005250706.6:c.2173A>G, XM_005250706.5:c.2173A>G, XM_005250706.4:c.2173A>G, XM_005250706.3:c.2173A>G, XM_005250706.2:c.2173A>G, XM_005250706.1:c.2173A>G, XM_005250707.6:c.2182A>G, XM_005250707.5:c.2182A>G, XM_005250707.4:c.2182A>G, XM_005250707.3:c.2182A>G, XM_005250707.2:c.2182A>G, XM_005250707.1:c.2182A>G, XM_017012796.3:c.1699A>G, XM_017012796.2:c.1699A>G, XM_017012796.1:c.1699A>G, XM_017012794.3:c.2173A>G, XM_017012794.2:c.2173A>G, XM_017012794.1:c.2173A>G, XM_047421031.1:c.2173A>G, XM_047421032.1:c.2173A>G, XM_047421033.1:c.2173A>G, XM_047421034.1:c.1069A>G, NP_060424.9:p.Asn728Asp, NP_001009571.2:p.Asn725Asp, NP_001350328.1:p.Asn567Asp, NP_001350318.1:p.Asn728Asp, NP_001350319.1:p.Asn728Asp, NP_001350320.1:p.Asn725Asp, NP_001161412.1:p.Asn728Asp, NP_001350329.1:p.Asn567Asp, NP_001350321.1:p.Asn728Asp, NP_001350322.1:p.Asn728Asp, NP_001350323.1:p.Asn728Asp, NP_001350324.1:p.Asn725Asp, NP_001350325.1:p.Asn728Asp, NP_001350326.1:p.Asn728Asp, NP_001350327.1:p.Asn725Asp, XP_005250754.1:p.Asn725Asp, XP_005250753.1:p.Asn728Asp, XP_005250756.1:p.Asn728Asp, XP_005250758.1:p.Asn728Asp, XP_005250759.1:p.Asn725Asp, XP_005250761.1:p.Asn728Asp, XP_005250763.1:p.Asn725Asp, XP_005250764.1:p.Asn728Asp, XP_016868285.1:p.Asn567Asp, XP_016868283.1:p.Asn725Asp, XP_047276987.1:p.Asn725Asp, XP_047276988.1:p.Asn725Asp, XP_047276989.1:p.Asn725Asp, XP_047276990.1:p.Asn357Asp

                                  17.

                                  rs1479525059 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:122438440 (GRCh38)
                                    7:122078494 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:122438439:G:A
                                    Gene:
                                    CADPS2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.122438440G>A, NC_000007.13:g.122078494G>A, NG_016215.2:g.453320C>T, NM_017954.11:c.2377C>T, NM_017954.10:c.2377C>T, NM_001009571.4:c.2368C>T, NM_001009571.3:c.2368C>T, NM_001363399.2:c.1894C>T, NM_001363399.1:c.1894C>T, NM_001363389.2:c.2377C>T, NM_001363389.1:c.2377C>T, NM_001363390.2:c.2377C>T, NM_001363390.1:c.2377C>T, NM_001363391.2:c.2368C>T, NM_001363391.1:c.2368C>T, NM_001167940.2:c.2377C>T, NM_001167940.1:c.2377C>T, NM_001363400.2:c.1894C>T, NM_001363400.1:c.1894C>T, NM_001363392.2:c.2377C>T, NM_001363392.1:c.2377C>T, NM_001363393.2:c.2377C>T, NM_001363393.1:c.2377C>T, NM_001363394.2:c.2377C>T, NM_001363394.1:c.2377C>T, NM_001363395.2:c.2368C>T, NM_001363395.1:c.2368C>T, NM_001363396.2:c.2377C>T, NM_001363396.1:c.2377C>T, NM_001363397.2:c.2377C>T, NM_001363397.1:c.2377C>T, NM_001363398.2:c.2368C>T, NM_001363398.1:c.2368C>T, XM_005250697.6:c.2368C>T, XM_005250697.5:c.2368C>T, XM_005250697.4:c.2368C>T, XM_005250697.3:c.2368C>T, XM_005250697.2:c.2368C>T, XM_005250697.1:c.2368C>T, XM_005250696.6:c.2377C>T, XM_005250696.5:c.2377C>T, XM_005250696.4:c.2377C>T, XM_005250696.3:c.2377C>T, XM_005250696.2:c.2377C>T, XM_005250696.1:c.2377C>T, XM_005250699.6:c.2377C>T, XM_005250699.5:c.2377C>T, XM_005250699.4:c.2377C>T, XM_005250699.3:c.2377C>T, XM_005250699.2:c.2377C>T, XM_005250699.1:c.2377C>T, XM_005250701.6:c.2377C>T, XM_005250701.5:c.2377C>T, XM_005250701.4:c.2377C>T, XM_005250701.3:c.2377C>T, XM_005250701.2:c.2377C>T, XM_005250701.1:c.2377C>T, XM_005250702.6:c.2368C>T, XM_005250702.5:c.2368C>T, XM_005250702.4:c.2368C>T, XM_005250702.3:c.2368C>T, XM_005250702.2:c.2368C>T, XM_005250702.1:c.2368C>T, XM_005250704.6:c.2377C>T, XM_005250704.5:c.2377C>T, XM_005250704.4:c.2377C>T, XM_005250704.3:c.2377C>T, XM_005250704.2:c.2377C>T, XM_005250704.1:c.2377C>T, XM_005250706.6:c.2368C>T, XM_005250706.5:c.2368C>T, XM_005250706.4:c.2368C>T, XM_005250706.3:c.2368C>T, XM_005250706.2:c.2368C>T, XM_005250706.1:c.2368C>T, XM_005250707.6:c.2377C>T, XM_005250707.5:c.2377C>T, XM_005250707.4:c.2377C>T, XM_005250707.3:c.2377C>T, XM_005250707.2:c.2377C>T, XM_005250707.1:c.2377C>T, XM_017012796.3:c.1894C>T, XM_017012796.2:c.1894C>T, XM_017012796.1:c.1894C>T, XM_017012794.3:c.2368C>T, XM_017012794.2:c.2368C>T, XM_017012794.1:c.2368C>T, XM_047421031.1:c.2368C>T, XM_047421032.1:c.2368C>T, XM_047421033.1:c.2368C>T, XM_047421034.1:c.1264C>T, NP_060424.9:p.Pro793Ser, NP_001009571.2:p.Pro790Ser, NP_001350328.1:p.Pro632Ser, NP_001350318.1:p.Pro793Ser, NP_001350319.1:p.Pro793Ser, NP_001350320.1:p.Pro790Ser, NP_001161412.1:p.Pro793Ser, NP_001350329.1:p.Pro632Ser, NP_001350321.1:p.Pro793Ser, NP_001350322.1:p.Pro793Ser, NP_001350323.1:p.Pro793Ser, NP_001350324.1:p.Pro790Ser, NP_001350325.1:p.Pro793Ser, NP_001350326.1:p.Pro793Ser, NP_001350327.1:p.Pro790Ser, XP_005250754.1:p.Pro790Ser, XP_005250753.1:p.Pro793Ser, XP_005250756.1:p.Pro793Ser, XP_005250758.1:p.Pro793Ser, XP_005250759.1:p.Pro790Ser, XP_005250761.1:p.Pro793Ser, XP_005250763.1:p.Pro790Ser, XP_005250764.1:p.Pro793Ser, XP_016868285.1:p.Pro632Ser, XP_016868283.1:p.Pro790Ser, XP_047276987.1:p.Pro790Ser, XP_047276988.1:p.Pro790Ser, XP_047276989.1:p.Pro790Ser, XP_047276990.1:p.Pro422Ser

                                    18.

                                    rs1479429345 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:122663556 (GRCh38)
                                      7:122303610 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:122663555:C:T
                                      Gene:
                                      CADPS2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000007.14:g.122663556C>T, NC_000007.13:g.122303610C>T, NG_016215.2:g.228204G>A, NM_017954.11:c.467G>A, NM_017954.10:c.467G>A, NM_001009571.4:c.467G>A, NM_001009571.3:c.467G>A, NM_001363399.2:c.-17G>A, NM_001363399.1:c.-17G>A, NM_001363389.2:c.467G>A, NM_001363389.1:c.467G>A, NM_001363390.2:c.467G>A, NM_001363390.1:c.467G>A, NM_001363391.2:c.467G>A, NM_001363391.1:c.467G>A, NM_001167940.2:c.467G>A, NM_001167940.1:c.467G>A, NM_001363400.2:c.-17G>A, NM_001363400.1:c.-17G>A, NM_001363392.2:c.467G>A, NM_001363392.1:c.467G>A, NM_001363393.2:c.467G>A, NM_001363393.1:c.467G>A, NM_001363394.2:c.467G>A, NM_001363394.1:c.467G>A, NM_001363395.2:c.467G>A, NM_001363395.1:c.467G>A, NM_001363396.2:c.467G>A, NM_001363396.1:c.467G>A, NM_001363397.2:c.467G>A, NM_001363397.1:c.467G>A, NM_001363398.2:c.467G>A, NM_001363398.1:c.467G>A, XM_005250697.6:c.467G>A, XM_005250697.5:c.467G>A, XM_005250697.4:c.467G>A, XM_005250697.3:c.467G>A, XM_005250697.2:c.467G>A, XM_005250697.1:c.467G>A, XM_005250696.6:c.467G>A, XM_005250696.5:c.467G>A, XM_005250696.4:c.467G>A, XM_005250696.3:c.467G>A, XM_005250696.2:c.467G>A, XM_005250696.1:c.467G>A, XM_005250699.6:c.467G>A, XM_005250699.5:c.467G>A, XM_005250699.4:c.467G>A, XM_005250699.3:c.467G>A, XM_005250699.2:c.467G>A, XM_005250699.1:c.467G>A, XM_005250701.6:c.467G>A, XM_005250701.5:c.467G>A, XM_005250701.4:c.467G>A, XM_005250701.3:c.467G>A, XM_005250701.2:c.467G>A, XM_005250701.1:c.467G>A, XM_005250702.6:c.467G>A, XM_005250702.5:c.467G>A, XM_005250702.4:c.467G>A, XM_005250702.3:c.467G>A, XM_005250702.2:c.467G>A, XM_005250702.1:c.467G>A, XM_005250704.6:c.467G>A, XM_005250704.5:c.467G>A, XM_005250704.4:c.467G>A, XM_005250704.3:c.467G>A, XM_005250704.2:c.467G>A, XM_005250704.1:c.467G>A, XM_005250706.6:c.467G>A, XM_005250706.5:c.467G>A, XM_005250706.4:c.467G>A, XM_005250706.3:c.467G>A, XM_005250706.2:c.467G>A, XM_005250706.1:c.467G>A, XM_005250707.6:c.467G>A, XM_005250707.5:c.467G>A, XM_005250707.4:c.467G>A, XM_005250707.3:c.467G>A, XM_005250707.2:c.467G>A, XM_005250707.1:c.467G>A, XM_017012796.3:c.-17G>A, XM_017012796.2:c.-17G>A, XM_017012796.1:c.-17G>A, XM_017012794.3:c.467G>A, XM_017012794.2:c.467G>A, XM_017012794.1:c.467G>A, XM_047421031.1:c.467G>A, XM_047421032.1:c.467G>A, XM_047421033.1:c.467G>A, NP_060424.9:p.Ser156Asn, NP_001009571.2:p.Ser156Asn, NP_001350318.1:p.Ser156Asn, NP_001350319.1:p.Ser156Asn, NP_001350320.1:p.Ser156Asn, NP_001161412.1:p.Ser156Asn, NP_001350321.1:p.Ser156Asn, NP_001350322.1:p.Ser156Asn, NP_001350323.1:p.Ser156Asn, NP_001350324.1:p.Ser156Asn, NP_001350325.1:p.Ser156Asn, NP_001350326.1:p.Ser156Asn, NP_001350327.1:p.Ser156Asn, XP_005250754.1:p.Ser156Asn, XP_005250753.1:p.Ser156Asn, XP_005250756.1:p.Ser156Asn, XP_005250758.1:p.Ser156Asn, XP_005250759.1:p.Ser156Asn, XP_005250761.1:p.Ser156Asn, XP_005250763.1:p.Ser156Asn, XP_005250764.1:p.Ser156Asn, XP_016868283.1:p.Ser156Asn, XP_047276987.1:p.Ser156Asn, XP_047276988.1:p.Ser156Asn, XP_047276989.1:p.Ser156Asn

                                      19.

                                      rs1478066516 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        7:122663268 (GRCh38)
                                        7:122303322 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:122663267:A:C
                                        Gene:
                                        CADPS2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.122663268A>C, NC_000007.13:g.122303322A>C, NG_016215.2:g.228492T>G, NM_017954.11:c.755T>G, NM_017954.10:c.755T>G, NM_001009571.4:c.755T>G, NM_001009571.3:c.755T>G, NM_001363399.2:c.272T>G, NM_001363399.1:c.272T>G, NM_001363389.2:c.755T>G, NM_001363389.1:c.755T>G, NM_001363390.2:c.755T>G, NM_001363390.1:c.755T>G, NM_001363391.2:c.755T>G, NM_001363391.1:c.755T>G, NM_001167940.2:c.755T>G, NM_001167940.1:c.755T>G, NM_001363400.2:c.272T>G, NM_001363400.1:c.272T>G, NM_001363392.2:c.755T>G, NM_001363392.1:c.755T>G, NM_001363393.2:c.755T>G, NM_001363393.1:c.755T>G, NM_001363394.2:c.755T>G, NM_001363394.1:c.755T>G, NM_001363395.2:c.755T>G, NM_001363395.1:c.755T>G, NM_001363396.2:c.755T>G, NM_001363396.1:c.755T>G, NM_001363397.2:c.755T>G, NM_001363397.1:c.755T>G, NM_001363398.2:c.755T>G, NM_001363398.1:c.755T>G, XM_005250697.6:c.755T>G, XM_005250697.5:c.755T>G, XM_005250697.4:c.755T>G, XM_005250697.3:c.755T>G, XM_005250697.2:c.755T>G, XM_005250697.1:c.755T>G, XM_005250696.6:c.755T>G, XM_005250696.5:c.755T>G, XM_005250696.4:c.755T>G, XM_005250696.3:c.755T>G, XM_005250696.2:c.755T>G, XM_005250696.1:c.755T>G, XM_005250699.6:c.755T>G, XM_005250699.5:c.755T>G, XM_005250699.4:c.755T>G, XM_005250699.3:c.755T>G, XM_005250699.2:c.755T>G, XM_005250699.1:c.755T>G, XM_005250701.6:c.755T>G, XM_005250701.5:c.755T>G, XM_005250701.4:c.755T>G, XM_005250701.3:c.755T>G, XM_005250701.2:c.755T>G, XM_005250701.1:c.755T>G, XM_005250702.6:c.755T>G, XM_005250702.5:c.755T>G, XM_005250702.4:c.755T>G, XM_005250702.3:c.755T>G, XM_005250702.2:c.755T>G, XM_005250702.1:c.755T>G, XM_005250704.6:c.755T>G, XM_005250704.5:c.755T>G, XM_005250704.4:c.755T>G, XM_005250704.3:c.755T>G, XM_005250704.2:c.755T>G, XM_005250704.1:c.755T>G, XM_005250706.6:c.755T>G, XM_005250706.5:c.755T>G, XM_005250706.4:c.755T>G, XM_005250706.3:c.755T>G, XM_005250706.2:c.755T>G, XM_005250706.1:c.755T>G, XM_005250707.6:c.755T>G, XM_005250707.5:c.755T>G, XM_005250707.4:c.755T>G, XM_005250707.3:c.755T>G, XM_005250707.2:c.755T>G, XM_005250707.1:c.755T>G, XM_017012796.3:c.272T>G, XM_017012796.2:c.272T>G, XM_017012796.1:c.272T>G, XM_017012794.3:c.755T>G, XM_017012794.2:c.755T>G, XM_017012794.1:c.755T>G, XM_047421031.1:c.755T>G, XM_047421032.1:c.755T>G, XM_047421033.1:c.755T>G, NP_060424.9:p.Leu252Arg, NP_001009571.2:p.Leu252Arg, NP_001350328.1:p.Leu91Arg, NP_001350318.1:p.Leu252Arg, NP_001350319.1:p.Leu252Arg, NP_001350320.1:p.Leu252Arg, NP_001161412.1:p.Leu252Arg, NP_001350329.1:p.Leu91Arg, NP_001350321.1:p.Leu252Arg, NP_001350322.1:p.Leu252Arg, NP_001350323.1:p.Leu252Arg, NP_001350324.1:p.Leu252Arg, NP_001350325.1:p.Leu252Arg, NP_001350326.1:p.Leu252Arg, NP_001350327.1:p.Leu252Arg, XP_005250754.1:p.Leu252Arg, XP_005250753.1:p.Leu252Arg, XP_005250756.1:p.Leu252Arg, XP_005250758.1:p.Leu252Arg, XP_005250759.1:p.Leu252Arg, XP_005250761.1:p.Leu252Arg, XP_005250763.1:p.Leu252Arg, XP_005250764.1:p.Leu252Arg, XP_016868285.1:p.Leu91Arg, XP_016868283.1:p.Leu252Arg, XP_047276987.1:p.Leu252Arg, XP_047276988.1:p.Leu252Arg, XP_047276989.1:p.Leu252Arg

                                        20.

                                        rs1477881239 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:122438414 (GRCh38)
                                          7:122078468 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:122438413:T:C
                                          Gene:
                                          CADPS2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (GnomAD_exomes)
                                          C=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000007.14:g.122438414T>C, NC_000007.13:g.122078468T>C, NG_016215.2:g.453346A>G, NM_017954.11:c.2403A>G, NM_017954.10:c.2403A>G, NM_001009571.4:c.2394A>G, NM_001009571.3:c.2394A>G, NM_001363399.2:c.1920A>G, NM_001363399.1:c.1920A>G, NM_001363389.2:c.2403A>G, NM_001363389.1:c.2403A>G, NM_001363390.2:c.2403A>G, NM_001363390.1:c.2403A>G, NM_001363391.2:c.2394A>G, NM_001363391.1:c.2394A>G, NM_001167940.2:c.2403A>G, NM_001167940.1:c.2403A>G, NM_001363400.2:c.1920A>G, NM_001363400.1:c.1920A>G, NM_001363392.2:c.2403A>G, NM_001363392.1:c.2403A>G, NM_001363393.2:c.2403A>G, NM_001363393.1:c.2403A>G, NM_001363394.2:c.2403A>G, NM_001363394.1:c.2403A>G, NM_001363395.2:c.2394A>G, NM_001363395.1:c.2394A>G, NM_001363396.2:c.2403A>G, NM_001363396.1:c.2403A>G, NM_001363397.2:c.2403A>G, NM_001363397.1:c.2403A>G, NM_001363398.2:c.2394A>G, NM_001363398.1:c.2394A>G, XM_005250697.6:c.2394A>G, XM_005250697.5:c.2394A>G, XM_005250697.4:c.2394A>G, XM_005250697.3:c.2394A>G, XM_005250697.2:c.2394A>G, XM_005250697.1:c.2394A>G, XM_005250696.6:c.2403A>G, XM_005250696.5:c.2403A>G, XM_005250696.4:c.2403A>G, XM_005250696.3:c.2403A>G, XM_005250696.2:c.2403A>G, XM_005250696.1:c.2403A>G, XM_005250699.6:c.2403A>G, XM_005250699.5:c.2403A>G, XM_005250699.4:c.2403A>G, XM_005250699.3:c.2403A>G, XM_005250699.2:c.2403A>G, XM_005250699.1:c.2403A>G, XM_005250701.6:c.2403A>G, XM_005250701.5:c.2403A>G, XM_005250701.4:c.2403A>G, XM_005250701.3:c.2403A>G, XM_005250701.2:c.2403A>G, XM_005250701.1:c.2403A>G, XM_005250702.6:c.2394A>G, XM_005250702.5:c.2394A>G, XM_005250702.4:c.2394A>G, XM_005250702.3:c.2394A>G, XM_005250702.2:c.2394A>G, XM_005250702.1:c.2394A>G, XM_005250704.6:c.2403A>G, XM_005250704.5:c.2403A>G, XM_005250704.4:c.2403A>G, XM_005250704.3:c.2403A>G, XM_005250704.2:c.2403A>G, XM_005250704.1:c.2403A>G, XM_005250706.6:c.2394A>G, XM_005250706.5:c.2394A>G, XM_005250706.4:c.2394A>G, XM_005250706.3:c.2394A>G, XM_005250706.2:c.2394A>G, XM_005250706.1:c.2394A>G, XM_005250707.6:c.2403A>G, XM_005250707.5:c.2403A>G, XM_005250707.4:c.2403A>G, XM_005250707.3:c.2403A>G, XM_005250707.2:c.2403A>G, XM_005250707.1:c.2403A>G, XM_017012796.3:c.1920A>G, XM_017012796.2:c.1920A>G, XM_017012796.1:c.1920A>G, XM_017012794.3:c.2394A>G, XM_017012794.2:c.2394A>G, XM_017012794.1:c.2394A>G, XM_047421031.1:c.2394A>G, XM_047421032.1:c.2394A>G, XM_047421033.1:c.2394A>G, XM_047421034.1:c.1290A>G

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