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Items: 1 to 20 of 1188

1.

rs1490900778 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:62645760 (GRCh38)
    3:62631435 (GRCh37)
    Canonical SPDI:
    NC_000003.12:62645759:C:G
    Gene:
    CADPS (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_000003.12:g.62645760C>G, NC_000003.11:g.62631435C>G, NG_047093.1:g.234630G>C, NM_003716.4:c.1287G>C, NM_003716.3:c.1287G>C, NM_183394.3:c.1287G>C, NM_183394.2:c.1287G>C, NM_183393.3:c.1287G>C, NM_183393.2:c.1287G>C, XM_011534191.4:c.1287G>C, XM_011534191.3:c.1287G>C, XM_011534191.2:c.1287G>C, XM_011534191.1:c.1287G>C, XM_011534198.4:c.1287G>C, XM_011534198.3:c.1287G>C, XM_011534198.2:c.1287G>C, XM_011534198.1:c.1287G>C, XM_006713378.4:c.1287G>C, XM_006713378.3:c.1287G>C, XM_006713378.2:c.1287G>C, XM_006713378.1:c.777G>C, XM_011534200.4:c.1287G>C, XM_011534200.3:c.1287G>C, XM_011534200.2:c.1287G>C, XM_011534200.1:c.1287G>C, XM_011534202.4:c.1287G>C, XM_011534202.3:c.1287G>C, XM_011534202.2:c.1287G>C, XM_011534202.1:c.1287G>C, XM_011534177.3:c.1287G>C, XM_011534177.2:c.1287G>C, XM_011534177.1:c.1287G>C, XM_017007360.3:c.1287G>C, XM_017007360.2:c.1287G>C, XM_017007360.1:c.1287G>C, XM_011534178.3:c.1287G>C, XM_011534178.2:c.1287G>C, XM_011534178.1:c.1287G>C, XM_011534180.3:c.1287G>C, XM_011534180.2:c.1287G>C, XM_011534180.1:c.1287G>C, XM_011534182.3:c.1287G>C, XM_011534182.2:c.1287G>C, XM_011534182.1:c.1287G>C, XM_017007363.3:c.1287G>C, XM_017007363.2:c.1287G>C, XM_017007363.1:c.1287G>C, XM_011534183.3:c.1287G>C, XM_011534183.2:c.1287G>C, XM_011534183.1:c.1287G>C, XM_017007364.3:c.1287G>C, XM_017007364.2:c.1287G>C, XM_017007364.1:c.1287G>C, XM_011534189.3:c.1287G>C, XM_011534189.2:c.1287G>C, XM_011534189.1:c.1287G>C, XM_017007366.3:c.1287G>C, XM_017007366.2:c.1287G>C, XM_017007366.1:c.1287G>C, XM_011534192.3:c.1287G>C, XM_011534192.2:c.1287G>C, XM_011534192.1:c.1287G>C, XM_011534193.3:c.1287G>C, XM_011534193.2:c.1287G>C, XM_011534193.1:c.1287G>C, XM_011534194.3:c.1287G>C, XM_011534194.2:c.1287G>C, XM_011534194.1:c.1287G>C, XM_017007371.3:c.1287G>C, XM_017007371.2:c.1287G>C, XM_017007371.1:c.1287G>C, XM_011534195.3:c.1287G>C, XM_011534195.2:c.1287G>C, XM_011534195.1:c.1287G>C, XM_011534196.3:c.1287G>C, XM_011534196.2:c.1287G>C, XM_011534196.1:c.1287G>C, XM_017007374.3:c.1287G>C, XM_017007374.2:c.1287G>C, XM_017007374.1:c.1287G>C, XM_017007376.3:c.1287G>C, XM_017007376.2:c.1287G>C, XM_017007376.1:c.1287G>C, XM_011534203.3:c.1287G>C, XM_011534203.2:c.1287G>C, XM_011534203.1:c.1287G>C, XM_017007377.3:c.1287G>C, XM_017007377.2:c.1287G>C, XM_017007377.1:c.1287G>C, XM_011534197.3:c.1287G>C, XM_011534197.2:c.1287G>C, XM_011534197.1:c.1287G>C, XM_017007383.3:c.1287G>C, XM_017007383.2:c.1287G>C, XM_017007383.1:c.1287G>C, XM_017007386.3:c.1287G>C, XM_017007386.2:c.1287G>C, XM_017007386.1:c.1287G>C, XM_011534199.3:c.1287G>C, XM_011534199.2:c.1287G>C, XM_011534199.1:c.1287G>C, XM_024453799.2:c.1287G>C, XM_024453799.1:c.1287G>C, XM_017007368.2:c.1287G>C, XM_017007368.1:c.1287G>C, XM_017007378.2:c.1287G>C, XM_017007378.1:c.1287G>C, XM_047449093.1:c.1287G>C, XM_047449094.1:c.1287G>C, XM_047449095.1:c.1287G>C, XM_047449096.1:c.1287G>C, XM_047449097.1:c.1287G>C, XM_047449098.1:c.1287G>C, XM_047449099.1:c.1287G>C, XM_047449100.1:c.1287G>C, XM_047449101.1:c.1287G>C, XM_047449102.1:c.1287G>C, XM_047449103.1:c.1287G>C, XM_047449109.1:c.1287G>C, XM_047449105.1:c.1287G>C, XM_047449106.1:c.1287G>C, XM_047449107.1:c.1287G>C, XM_047449108.1:c.1287G>C, NP_003707.2:p.Glu429Asp, NP_899631.1:p.Glu429Asp, NP_899630.1:p.Glu429Asp, XP_011532493.1:p.Glu429Asp, XP_011532500.1:p.Glu429Asp, XP_006713441.2:p.Glu429Asp, XP_011532502.1:p.Glu429Asp, XP_011532504.1:p.Glu429Asp, XP_011532479.1:p.Glu429Asp, XP_016862849.1:p.Glu429Asp, XP_011532480.1:p.Glu429Asp, XP_011532482.1:p.Glu429Asp, XP_011532484.1:p.Glu429Asp, XP_016862852.1:p.Glu429Asp, XP_011532485.1:p.Glu429Asp, XP_016862853.1:p.Glu429Asp, XP_011532491.1:p.Glu429Asp, XP_016862855.1:p.Glu429Asp, XP_011532494.1:p.Glu429Asp, XP_011532495.1:p.Glu429Asp, XP_011532496.1:p.Glu429Asp, XP_016862860.1:p.Glu429Asp, XP_011532497.1:p.Glu429Asp, XP_011532498.1:p.Glu429Asp, XP_016862863.1:p.Glu429Asp, XP_016862865.1:p.Glu429Asp, XP_011532505.1:p.Glu429Asp, XP_016862866.1:p.Glu429Asp, XP_011532499.1:p.Glu429Asp, XP_016862872.1:p.Glu429Asp, XP_016862875.1:p.Glu429Asp, XP_011532501.1:p.Glu429Asp, XP_024309567.1:p.Glu429Asp, XP_016862857.1:p.Glu429Asp, XP_016862867.1:p.Glu429Asp, XP_047305049.1:p.Glu429Asp, XP_047305050.1:p.Glu429Asp, XP_047305051.1:p.Glu429Asp, XP_047305052.1:p.Glu429Asp, XP_047305053.1:p.Glu429Asp, XP_047305054.1:p.Glu429Asp, XP_047305055.1:p.Glu429Asp, XP_047305056.1:p.Glu429Asp, XP_047305057.1:p.Glu429Asp, XP_047305058.1:p.Glu429Asp, XP_047305059.1:p.Glu429Asp, XP_047305065.1:p.Glu429Asp, XP_047305061.1:p.Glu429Asp, XP_047305062.1:p.Glu429Asp, XP_047305063.1:p.Glu429Asp, XP_047305064.1:p.Glu429Asp

    2.

    rs1490465817 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      3:62549965 (GRCh38)
      3:62535640 (GRCh37)
      Canonical SPDI:
      NC_000003.12:62549964:A:T
      Gene:
      CADPS (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000031/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000003.12:g.62549965A>T, NC_000003.11:g.62535640A>T, NG_047093.1:g.330425T>A, NM_003716.4:c.1904T>A, NM_003716.3:c.1904T>A, NM_183394.3:c.1904T>A, NM_183394.2:c.1904T>A, NM_183393.3:c.1904T>A, NM_183393.2:c.1904T>A, XM_011534191.4:c.1904T>A, XM_011534191.3:c.1904T>A, XM_011534191.2:c.1904T>A, XM_011534191.1:c.1904T>A, XM_011534198.4:c.1904T>A, XM_011534198.3:c.1904T>A, XM_011534198.2:c.1904T>A, XM_011534198.1:c.1904T>A, XM_006713378.4:c.1904T>A, XM_006713378.3:c.1904T>A, XM_006713378.2:c.1904T>A, XM_006713378.1:c.1394T>A, XM_011534200.4:c.1904T>A, XM_011534200.3:c.1904T>A, XM_011534200.2:c.1904T>A, XM_011534200.1:c.1904T>A, XM_011534202.4:c.1904T>A, XM_011534202.3:c.1904T>A, XM_011534202.2:c.1904T>A, XM_011534202.1:c.1904T>A, XM_011534177.3:c.1904T>A, XM_011534177.2:c.1904T>A, XM_011534177.1:c.1904T>A, XM_017007360.3:c.1904T>A, XM_017007360.2:c.1904T>A, XM_017007360.1:c.1904T>A, XM_011534178.3:c.1904T>A, XM_011534178.2:c.1904T>A, XM_011534178.1:c.1904T>A, XM_011534180.3:c.1904T>A, XM_011534180.2:c.1904T>A, XM_011534180.1:c.1904T>A, XM_011534182.3:c.1904T>A, XM_011534182.2:c.1904T>A, XM_011534182.1:c.1904T>A, XM_017007363.3:c.1904T>A, XM_017007363.2:c.1904T>A, XM_017007363.1:c.1904T>A, XM_011534183.3:c.1904T>A, XM_011534183.2:c.1904T>A, XM_011534183.1:c.1904T>A, XM_017007364.3:c.1904T>A, XM_017007364.2:c.1904T>A, XM_017007364.1:c.1904T>A, XM_011534189.3:c.1904T>A, XM_011534189.2:c.1904T>A, XM_011534189.1:c.1904T>A, XM_017007366.3:c.1904T>A, XM_017007366.2:c.1904T>A, XM_017007366.1:c.1904T>A, XM_011534192.3:c.1904T>A, XM_011534192.2:c.1904T>A, XM_011534192.1:c.1904T>A, XM_011534193.3:c.1904T>A, XM_011534193.2:c.1904T>A, XM_011534193.1:c.1904T>A, XM_011534194.3:c.1904T>A, XM_011534194.2:c.1904T>A, XM_011534194.1:c.1904T>A, XM_017007371.3:c.1904T>A, XM_017007371.2:c.1904T>A, XM_017007371.1:c.1904T>A, XM_011534195.3:c.1904T>A, XM_011534195.2:c.1904T>A, XM_011534195.1:c.1904T>A, XM_011534196.3:c.1904T>A, XM_011534196.2:c.1904T>A, XM_011534196.1:c.1904T>A, XM_017007374.3:c.1904T>A, XM_017007374.2:c.1904T>A, XM_017007374.1:c.1904T>A, XM_017007376.3:c.1904T>A, XM_017007376.2:c.1904T>A, XM_017007376.1:c.1904T>A, XM_011534203.3:c.1904T>A, XM_011534203.2:c.1904T>A, XM_011534203.1:c.1904T>A, XM_017007377.3:c.1904T>A, XM_017007377.2:c.1904T>A, XM_017007377.1:c.1904T>A, XM_011534197.3:c.1904T>A, XM_011534197.2:c.1904T>A, XM_011534197.1:c.1904T>A, XM_017007383.3:c.1904T>A, XM_017007383.2:c.1904T>A, XM_017007383.1:c.1904T>A, XM_017007386.3:c.1904T>A, XM_017007386.2:c.1904T>A, XM_017007386.1:c.1904T>A, XM_011534199.3:c.1904T>A, XM_011534199.2:c.1904T>A, XM_011534199.1:c.1904T>A, XM_024453799.2:c.1904T>A, XM_024453799.1:c.1904T>A, XM_017007368.2:c.1904T>A, XM_017007368.1:c.1904T>A, XM_017007378.2:c.1904T>A, XM_017007378.1:c.1904T>A, XM_047449093.1:c.1904T>A, XM_047449094.1:c.1904T>A, XM_047449095.1:c.1904T>A, XM_047449096.1:c.1904T>A, XM_047449097.1:c.1904T>A, XM_047449098.1:c.1904T>A, XM_047449099.1:c.1904T>A, XM_047449100.1:c.1904T>A, XM_047449101.1:c.1904T>A, XM_047449102.1:c.1904T>A, XM_047449103.1:c.1904T>A, XM_047449109.1:c.1904T>A, XM_047449105.1:c.1904T>A, XM_047449106.1:c.1904T>A, XM_047449107.1:c.1904T>A, XM_047449108.1:c.1904T>A, NP_003707.2:p.Val635Asp, NP_899631.1:p.Val635Asp, NP_899630.1:p.Val635Asp, XP_011532493.1:p.Val635Asp, XP_011532500.1:p.Val635Asp, XP_006713441.2:p.Val635Asp, XP_011532502.1:p.Val635Asp, XP_011532504.1:p.Val635Asp, XP_011532479.1:p.Val635Asp, XP_016862849.1:p.Val635Asp, XP_011532480.1:p.Val635Asp, XP_011532482.1:p.Val635Asp, XP_011532484.1:p.Val635Asp, XP_016862852.1:p.Val635Asp, XP_011532485.1:p.Val635Asp, XP_016862853.1:p.Val635Asp, XP_011532491.1:p.Val635Asp, XP_016862855.1:p.Val635Asp, XP_011532494.1:p.Val635Asp, XP_011532495.1:p.Val635Asp, XP_011532496.1:p.Val635Asp, XP_016862860.1:p.Val635Asp, XP_011532497.1:p.Val635Asp, XP_011532498.1:p.Val635Asp, XP_016862863.1:p.Val635Asp, XP_016862865.1:p.Val635Asp, XP_011532505.1:p.Val635Asp, XP_016862866.1:p.Val635Asp, XP_011532499.1:p.Val635Asp, XP_016862872.1:p.Val635Asp, XP_016862875.1:p.Val635Asp, XP_011532501.1:p.Val635Asp, XP_024309567.1:p.Val635Asp, XP_016862857.1:p.Val635Asp, XP_016862867.1:p.Val635Asp, XP_047305049.1:p.Val635Asp, XP_047305050.1:p.Val635Asp, XP_047305051.1:p.Val635Asp, XP_047305052.1:p.Val635Asp, XP_047305053.1:p.Val635Asp, XP_047305054.1:p.Val635Asp, XP_047305055.1:p.Val635Asp, XP_047305056.1:p.Val635Asp, XP_047305057.1:p.Val635Asp, XP_047305058.1:p.Val635Asp, XP_047305059.1:p.Val635Asp, XP_047305065.1:p.Val635Asp, XP_047305061.1:p.Val635Asp, XP_047305062.1:p.Val635Asp, XP_047305063.1:p.Val635Asp, XP_047305064.1:p.Val635Asp

      3.

      rs1489486902 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        3:62874835 (GRCh38)
        3:62860510 (GRCh37)
        Canonical SPDI:
        NC_000003.12:62874834:C:G
        Gene:
        CADPS (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.62874835C>G, NC_000003.11:g.62860510C>G, NG_047093.1:g.5555G>C, NM_003716.4:c.195G>C, NM_003716.3:c.195G>C, NM_183394.3:c.195G>C, NM_183394.2:c.195G>C, NM_183393.3:c.195G>C, NM_183393.2:c.195G>C, XM_011534191.4:c.195G>C, XM_011534191.3:c.195G>C, XM_011534191.2:c.195G>C, XM_011534191.1:c.195G>C, XM_011534198.4:c.195G>C, XM_011534198.3:c.195G>C, XM_011534198.2:c.195G>C, XM_011534198.1:c.195G>C, XM_006713378.4:c.195G>C, XM_006713378.3:c.195G>C, XM_006713378.2:c.195G>C, XM_011534200.4:c.195G>C, XM_011534200.3:c.195G>C, XM_011534200.2:c.195G>C, XM_011534200.1:c.195G>C, XM_011534202.4:c.195G>C, XM_011534202.3:c.195G>C, XM_011534202.2:c.195G>C, XM_011534202.1:c.195G>C, XM_011534177.3:c.195G>C, XM_011534177.2:c.195G>C, XM_011534177.1:c.195G>C, XM_017007360.3:c.195G>C, XM_017007360.2:c.195G>C, XM_017007360.1:c.195G>C, XM_011534178.3:c.195G>C, XM_011534178.2:c.195G>C, XM_011534178.1:c.195G>C, XM_011534180.3:c.195G>C, XM_011534180.2:c.195G>C, XM_011534180.1:c.195G>C, XM_011534182.3:c.195G>C, XM_011534182.2:c.195G>C, XM_011534182.1:c.195G>C, XM_017007363.3:c.195G>C, XM_017007363.2:c.195G>C, XM_017007363.1:c.195G>C, XM_011534183.3:c.195G>C, XM_011534183.2:c.195G>C, XM_011534183.1:c.195G>C, XM_017007364.3:c.195G>C, XM_017007364.2:c.195G>C, XM_017007364.1:c.195G>C, XM_011534189.3:c.195G>C, XM_011534189.2:c.195G>C, XM_011534189.1:c.195G>C, XM_017007366.3:c.195G>C, XM_017007366.2:c.195G>C, XM_017007366.1:c.195G>C, XM_011534192.3:c.195G>C, XM_011534192.2:c.195G>C, XM_011534192.1:c.195G>C, XM_011534193.3:c.195G>C, XM_011534193.2:c.195G>C, XM_011534193.1:c.195G>C, XM_011534194.3:c.195G>C, XM_011534194.2:c.195G>C, XM_011534194.1:c.195G>C, XM_017007371.3:c.195G>C, XM_017007371.2:c.195G>C, XM_017007371.1:c.195G>C, XM_011534195.3:c.195G>C, XM_011534195.2:c.195G>C, XM_011534195.1:c.195G>C, XM_011534196.3:c.195G>C, XM_011534196.2:c.195G>C, XM_011534196.1:c.195G>C, XM_017007374.3:c.195G>C, XM_017007374.2:c.195G>C, XM_017007374.1:c.195G>C, XM_017007376.3:c.195G>C, XM_017007376.2:c.195G>C, XM_017007376.1:c.195G>C, XM_011534203.3:c.195G>C, XM_011534203.2:c.195G>C, XM_011534203.1:c.195G>C, XM_017007377.3:c.195G>C, XM_017007377.2:c.195G>C, XM_017007377.1:c.195G>C, XM_011534197.3:c.195G>C, XM_011534197.2:c.195G>C, XM_011534197.1:c.195G>C, XM_017007383.3:c.195G>C, XM_017007383.2:c.195G>C, XM_017007383.1:c.195G>C, XM_017007386.3:c.195G>C, XM_017007386.2:c.195G>C, XM_017007386.1:c.195G>C, XM_011534199.3:c.195G>C, XM_011534199.2:c.195G>C, XM_011534199.1:c.195G>C, XM_024453799.2:c.195G>C, XM_024453799.1:c.195G>C, XM_017007368.2:c.195G>C, XM_017007368.1:c.195G>C, XM_017007378.2:c.195G>C, XM_017007378.1:c.195G>C, XM_047449093.1:c.195G>C, XM_047449094.1:c.195G>C, XM_047449095.1:c.195G>C, XM_047449096.1:c.195G>C, XM_047449097.1:c.195G>C, XM_047449098.1:c.195G>C, XM_047449099.1:c.195G>C, XM_047449100.1:c.195G>C, XM_047449101.1:c.195G>C, XM_047449102.1:c.195G>C, XM_047449103.1:c.195G>C, XM_047449109.1:c.195G>C, XM_047449105.1:c.195G>C, XM_047449106.1:c.195G>C, XM_047449107.1:c.195G>C, XM_047449108.1:c.195G>C

        4.

        rs1487780014 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:62399468 (GRCh38)
          3:62385143 (GRCh37)
          Canonical SPDI:
          NC_000003.12:62399467:C:T
          Gene:
          CADPS (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.62399468C>T, NC_000003.11:g.62385143C>T, NG_047093.1:g.480922G>A, NM_003716.4:c.4000G>A, NM_003716.3:c.4000G>A, NM_183394.3:c.3883G>A, NM_183394.2:c.3883G>A, NM_183393.3:c.3763G>A, NM_183393.2:c.3763G>A, XM_011534191.4:c.4030G>A, XM_011534191.3:c.4030G>A, XM_011534191.2:c.4030G>A, XM_011534191.1:c.4030G>A, XM_011534198.4:c.3832G>A, XM_011534198.3:c.3832G>A, XM_011534198.2:c.3832G>A, XM_011534198.1:c.3832G>A, XM_006713378.4:c.3826G>A, XM_006713378.3:c.3826G>A, XM_006713378.2:c.3826G>A, XM_006713378.1:c.3316G>A, XM_011534200.4:c.3814G>A, XM_011534200.3:c.3814G>A, XM_011534200.2:c.3814G>A, XM_011534200.1:c.3814G>A, XM_011534177.3:c.4234G>A, XM_011534177.2:c.4234G>A, XM_011534177.1:c.4234G>A, XM_017007360.3:c.4219G>A, XM_017007360.2:c.4219G>A, XM_017007360.1:c.4219G>A, XM_011534178.3:c.4216G>A, XM_011534178.2:c.4216G>A, XM_011534178.1:c.4216G>A, XM_011534180.3:c.4186G>A, XM_011534180.2:c.4186G>A, XM_011534180.1:c.4186G>A, XM_011534182.3:c.4165G>A, XM_011534182.2:c.4165G>A, XM_011534182.1:c.4165G>A, XM_017007363.3:c.4150G>A, XM_017007363.2:c.4150G>A, XM_017007363.1:c.4150G>A, XM_011534183.3:c.4147G>A, XM_011534183.2:c.4147G>A, XM_011534183.1:c.4147G>A, XM_017007364.3:c.4072G>A, XM_017007364.2:c.4072G>A, XM_017007364.1:c.4072G>A, XM_011534189.3:c.4069G>A, XM_011534189.2:c.4069G>A, XM_011534189.1:c.4069G>A, XM_017007366.3:c.4054G>A, XM_017007366.2:c.4054G>A, XM_017007366.1:c.4054G>A, XM_011534192.3:c.4027G>A, XM_011534192.2:c.4027G>A, XM_011534192.1:c.4027G>A, XM_011534193.3:c.4015G>A, XM_011534193.2:c.4015G>A, XM_011534193.1:c.4015G>A, XM_011534194.3:c.4012G>A, XM_011534194.2:c.4012G>A, XM_011534194.1:c.4012G>A, XM_017007371.3:c.4003G>A, XM_017007371.2:c.4003G>A, XM_017007371.1:c.4003G>A, XM_011534195.3:c.4000G>A, XM_011534195.2:c.4000G>A, XM_011534195.1:c.4000G>A, XM_011534196.3:c.3997G>A, XM_011534196.2:c.3997G>A, XM_011534196.1:c.3997G>A, XM_017007374.3:c.3991G>A, XM_017007374.2:c.3991G>A, XM_017007374.1:c.3991G>A, XM_017007376.3:c.3985G>A, XM_017007376.2:c.3985G>A, XM_017007376.1:c.3985G>A, XM_011534203.3:c.3982G>A, XM_011534203.2:c.3982G>A, XM_011534203.1:c.3982G>A, XM_017007377.3:c.3979G>A, XM_017007377.2:c.3979G>A, XM_017007377.1:c.3979G>A, XM_011534197.3:c.3973G>A, XM_011534197.2:c.3973G>A, XM_011534197.1:c.3973G>A, XM_017007383.3:c.3895G>A, XM_017007383.2:c.3895G>A, XM_017007383.1:c.3895G>A, XM_017007386.3:c.3844G>A, XM_017007386.2:c.3844G>A, XM_017007386.1:c.3844G>A, XM_011534199.3:c.3829G>A, XM_011534199.2:c.3829G>A, XM_011534199.1:c.3829G>A, XM_024453799.2:c.4087G>A, XM_024453799.1:c.4087G>A, XM_017007368.2:c.4045G>A, XM_017007368.1:c.4045G>A, XM_017007378.2:c.3976G>A, XM_017007378.1:c.3976G>A, XM_047449093.1:c.4246G>A, XM_047449094.1:c.4237G>A, XM_047449095.1:c.4231G>A, XM_047449096.1:c.4225G>A, XM_047449097.1:c.4201G>A, XM_047449098.1:c.4195G>A, XM_047449099.1:c.4177G>A, XM_047449100.1:c.4078G>A, XM_047449101.1:c.4063G>A, XM_047449102.1:c.4060G>A, XM_047449103.1:c.4048G>A, XM_047449109.1:c.4039G>A, XM_047449105.1:c.3988G>A, XM_047449106.1:c.3913G>A, XM_047449107.1:c.3901G>A, XM_047449108.1:c.3835G>A, NP_003707.2:p.Gly1334Ser, NP_899631.1:p.Gly1295Ser, NP_899630.1:p.Gly1255Ser, XP_011532493.1:p.Gly1344Ser, XP_011532500.1:p.Gly1278Ser, XP_006713441.2:p.Gly1276Ser, XP_011532502.1:p.Gly1272Ser, XP_011532479.1:p.Gly1412Ser, XP_016862849.1:p.Gly1407Ser, XP_011532480.1:p.Gly1406Ser, XP_011532482.1:p.Gly1396Ser, XP_011532484.1:p.Gly1389Ser, XP_016862852.1:p.Gly1384Ser, XP_011532485.1:p.Gly1383Ser, XP_016862853.1:p.Gly1358Ser, XP_011532491.1:p.Gly1357Ser, XP_016862855.1:p.Gly1352Ser, XP_011532494.1:p.Gly1343Ser, XP_011532495.1:p.Gly1339Ser, XP_011532496.1:p.Gly1338Ser, XP_016862860.1:p.Gly1335Ser, XP_011532497.1:p.Gly1334Ser, XP_011532498.1:p.Gly1333Ser, XP_016862863.1:p.Gly1331Ser, XP_016862865.1:p.Gly1329Ser, XP_011532505.1:p.Gly1328Ser, XP_016862866.1:p.Gly1327Ser, XP_011532499.1:p.Gly1325Ser, XP_016862872.1:p.Gly1299Ser, XP_016862875.1:p.Gly1282Ser, XP_011532501.1:p.Gly1277Ser, XP_024309567.1:p.Gly1363Ser, XP_016862857.1:p.Gly1349Ser, XP_016862867.1:p.Gly1326Ser, XP_047305049.1:p.Gly1416Ser, XP_047305050.1:p.Gly1413Ser, XP_047305051.1:p.Gly1411Ser, XP_047305052.1:p.Gly1409Ser, XP_047305053.1:p.Gly1401Ser, XP_047305054.1:p.Gly1399Ser, XP_047305055.1:p.Gly1393Ser, XP_047305056.1:p.Gly1360Ser, XP_047305057.1:p.Gly1355Ser, XP_047305058.1:p.Gly1354Ser, XP_047305059.1:p.Gly1350Ser, XP_047305065.1:p.Gly1347Ser, XP_047305061.1:p.Gly1330Ser, XP_047305062.1:p.Gly1305Ser, XP_047305063.1:p.Gly1301Ser, XP_047305064.1:p.Gly1279Ser

          5.

          rs1486075591 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:62481811 (GRCh38)
            3:62467486 (GRCh37)
            Canonical SPDI:
            NC_000003.12:62481810:G:A
            Gene:
            CADPS (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.62481811G>A, NC_000003.11:g.62467486G>A, NG_047093.1:g.398579C>T, NM_003716.4:c.3085C>T, NM_003716.3:c.3085C>T, XM_011534191.4:c.3115C>T, XM_011534191.3:c.3115C>T, XM_011534191.2:c.3115C>T, XM_011534191.1:c.3115C>T, XM_011534177.3:c.3304C>T, XM_011534177.2:c.3304C>T, XM_011534177.1:c.3304C>T, XM_017007360.3:c.3304C>T, XM_017007360.2:c.3304C>T, XM_017007360.1:c.3304C>T, XM_011534178.3:c.3286C>T, XM_011534178.2:c.3286C>T, XM_011534178.1:c.3286C>T, XM_011534180.3:c.3256C>T, XM_011534180.2:c.3256C>T, XM_011534180.1:c.3256C>T, XM_011534182.3:c.3235C>T, XM_011534182.2:c.3235C>T, XM_011534182.1:c.3235C>T, XM_017007363.3:c.3235C>T, XM_017007363.2:c.3235C>T, XM_017007363.1:c.3235C>T, XM_011534183.3:c.3217C>T, XM_011534183.2:c.3217C>T, XM_011534183.1:c.3217C>T, XM_011534193.3:c.3085C>T, XM_011534193.2:c.3085C>T, XM_011534193.1:c.3085C>T, XM_011534194.3:c.3097C>T, XM_011534194.2:c.3097C>T, XM_011534194.1:c.3097C>T, XM_011534196.3:c.3067C>T, XM_011534196.2:c.3067C>T, XM_011534196.1:c.3067C>T, XM_017007374.3:c.3076C>T, XM_017007374.2:c.3076C>T, XM_017007374.1:c.3076C>T, XM_011534203.3:c.3067C>T, XM_011534203.2:c.3067C>T, XM_011534203.1:c.3067C>T, XM_017007377.3:c.3064C>T, XM_017007377.2:c.3064C>T, XM_017007377.1:c.3064C>T, XM_017007368.2:c.3115C>T, XM_017007368.1:c.3115C>T, XM_017007378.2:c.3046C>T, XM_017007378.1:c.3046C>T, XM_047449093.1:c.3316C>T, XM_047449094.1:c.3307C>T, XM_047449095.1:c.3316C>T, XM_047449096.1:c.3295C>T, XM_047449097.1:c.3286C>T, XM_047449098.1:c.3265C>T, XM_047449099.1:c.3247C>T, XM_047449102.1:c.3145C>T, XM_047449103.1:c.3133C>T, XM_047449109.1:c.3124C>T, NP_003707.2:p.Pro1029Ser, XP_011532493.1:p.Pro1039Ser, XP_011532479.1:p.Pro1102Ser, XP_016862849.1:p.Pro1102Ser, XP_011532480.1:p.Pro1096Ser, XP_011532482.1:p.Pro1086Ser, XP_011532484.1:p.Pro1079Ser, XP_016862852.1:p.Pro1079Ser, XP_011532485.1:p.Pro1073Ser, XP_011532495.1:p.Pro1029Ser, XP_011532496.1:p.Pro1033Ser, XP_011532498.1:p.Pro1023Ser, XP_016862863.1:p.Pro1026Ser, XP_011532505.1:p.Pro1023Ser, XP_016862866.1:p.Pro1022Ser, XP_016862857.1:p.Pro1039Ser, XP_016862867.1:p.Pro1016Ser, XP_047305049.1:p.Pro1106Ser, XP_047305050.1:p.Pro1103Ser, XP_047305051.1:p.Pro1106Ser, XP_047305052.1:p.Pro1099Ser, XP_047305053.1:p.Pro1096Ser, XP_047305054.1:p.Pro1089Ser, XP_047305055.1:p.Pro1083Ser, XP_047305058.1:p.Pro1049Ser, XP_047305059.1:p.Pro1045Ser, XP_047305065.1:p.Pro1042Ser

            6.

            rs1485363587 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:62874760 (GRCh38)
              3:62860435 (GRCh37)
              Canonical SPDI:
              NC_000003.12:62874759:G:A
              Gene:
              CADPS (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              NC_000003.12:g.62874760G>A, NC_000003.11:g.62860435G>A, NG_047093.1:g.5630C>T, NM_003716.4:c.270C>T, NM_003716.3:c.270C>T, NM_183394.3:c.270C>T, NM_183394.2:c.270C>T, NM_183393.3:c.270C>T, NM_183393.2:c.270C>T, XM_011534191.4:c.270C>T, XM_011534191.3:c.270C>T, XM_011534191.2:c.270C>T, XM_011534191.1:c.270C>T, XM_011534198.4:c.270C>T, XM_011534198.3:c.270C>T, XM_011534198.2:c.270C>T, XM_011534198.1:c.270C>T, XM_006713378.4:c.270C>T, XM_006713378.3:c.270C>T, XM_006713378.2:c.270C>T, XM_011534200.4:c.270C>T, XM_011534200.3:c.270C>T, XM_011534200.2:c.270C>T, XM_011534200.1:c.270C>T, XM_011534202.4:c.270C>T, XM_011534202.3:c.270C>T, XM_011534202.2:c.270C>T, XM_011534202.1:c.270C>T, XM_011534177.3:c.270C>T, XM_011534177.2:c.270C>T, XM_011534177.1:c.270C>T, XM_017007360.3:c.270C>T, XM_017007360.2:c.270C>T, XM_017007360.1:c.270C>T, XM_011534178.3:c.270C>T, XM_011534178.2:c.270C>T, XM_011534178.1:c.270C>T, XM_011534180.3:c.270C>T, XM_011534180.2:c.270C>T, XM_011534180.1:c.270C>T, XM_011534182.3:c.270C>T, XM_011534182.2:c.270C>T, XM_011534182.1:c.270C>T, XM_017007363.3:c.270C>T, XM_017007363.2:c.270C>T, XM_017007363.1:c.270C>T, XM_011534183.3:c.270C>T, XM_011534183.2:c.270C>T, XM_011534183.1:c.270C>T, XM_017007364.3:c.270C>T, XM_017007364.2:c.270C>T, XM_017007364.1:c.270C>T, XM_011534189.3:c.270C>T, XM_011534189.2:c.270C>T, XM_011534189.1:c.270C>T, XM_017007366.3:c.270C>T, XM_017007366.2:c.270C>T, XM_017007366.1:c.270C>T, XM_011534192.3:c.270C>T, XM_011534192.2:c.270C>T, XM_011534192.1:c.270C>T, XM_011534193.3:c.270C>T, XM_011534193.2:c.270C>T, XM_011534193.1:c.270C>T, XM_011534194.3:c.270C>T, XM_011534194.2:c.270C>T, XM_011534194.1:c.270C>T, XM_017007371.3:c.270C>T, XM_017007371.2:c.270C>T, XM_017007371.1:c.270C>T, XM_011534195.3:c.270C>T, XM_011534195.2:c.270C>T, XM_011534195.1:c.270C>T, XM_011534196.3:c.270C>T, XM_011534196.2:c.270C>T, XM_011534196.1:c.270C>T, XM_017007374.3:c.270C>T, XM_017007374.2:c.270C>T, XM_017007374.1:c.270C>T, XM_017007376.3:c.270C>T, XM_017007376.2:c.270C>T, XM_017007376.1:c.270C>T, XM_011534203.3:c.270C>T, XM_011534203.2:c.270C>T, XM_011534203.1:c.270C>T, XM_017007377.3:c.270C>T, XM_017007377.2:c.270C>T, XM_017007377.1:c.270C>T, XM_011534197.3:c.270C>T, XM_011534197.2:c.270C>T, XM_011534197.1:c.270C>T, XM_017007383.3:c.270C>T, XM_017007383.2:c.270C>T, XM_017007383.1:c.270C>T, XM_017007386.3:c.270C>T, XM_017007386.2:c.270C>T, XM_017007386.1:c.270C>T, XM_011534199.3:c.270C>T, XM_011534199.2:c.270C>T, XM_011534199.1:c.270C>T, XM_024453799.2:c.270C>T, XM_024453799.1:c.270C>T, XM_017007368.2:c.270C>T, XM_017007368.1:c.270C>T, XM_017007378.2:c.270C>T, XM_017007378.1:c.270C>T, XM_047449093.1:c.270C>T, XM_047449094.1:c.270C>T, XM_047449095.1:c.270C>T, XM_047449096.1:c.270C>T, XM_047449097.1:c.270C>T, XM_047449098.1:c.270C>T, XM_047449099.1:c.270C>T, XM_047449100.1:c.270C>T, XM_047449101.1:c.270C>T, XM_047449102.1:c.270C>T, XM_047449103.1:c.270C>T, XM_047449109.1:c.270C>T, XM_047449105.1:c.270C>T, XM_047449106.1:c.270C>T, XM_047449107.1:c.270C>T, XM_047449108.1:c.270C>T

              7.

              rs1483890563 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:62874838 (GRCh38)
                3:62860513 (GRCh37)
                Canonical SPDI:
                NC_000003.12:62874837:G:A
                Gene:
                CADPS (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.62874838G>A, NC_000003.11:g.62860513G>A, NG_047093.1:g.5552C>T, NM_003716.4:c.192C>T, NM_003716.3:c.192C>T, NM_183394.3:c.192C>T, NM_183394.2:c.192C>T, NM_183393.3:c.192C>T, NM_183393.2:c.192C>T, XM_011534191.4:c.192C>T, XM_011534191.3:c.192C>T, XM_011534191.2:c.192C>T, XM_011534191.1:c.192C>T, XM_011534198.4:c.192C>T, XM_011534198.3:c.192C>T, XM_011534198.2:c.192C>T, XM_011534198.1:c.192C>T, XM_006713378.4:c.192C>T, XM_006713378.3:c.192C>T, XM_006713378.2:c.192C>T, XM_011534200.4:c.192C>T, XM_011534200.3:c.192C>T, XM_011534200.2:c.192C>T, XM_011534200.1:c.192C>T, XM_011534202.4:c.192C>T, XM_011534202.3:c.192C>T, XM_011534202.2:c.192C>T, XM_011534202.1:c.192C>T, XM_011534177.3:c.192C>T, XM_011534177.2:c.192C>T, XM_011534177.1:c.192C>T, XM_017007360.3:c.192C>T, XM_017007360.2:c.192C>T, XM_017007360.1:c.192C>T, XM_011534178.3:c.192C>T, XM_011534178.2:c.192C>T, XM_011534178.1:c.192C>T, XM_011534180.3:c.192C>T, XM_011534180.2:c.192C>T, XM_011534180.1:c.192C>T, XM_011534182.3:c.192C>T, XM_011534182.2:c.192C>T, XM_011534182.1:c.192C>T, XM_017007363.3:c.192C>T, XM_017007363.2:c.192C>T, XM_017007363.1:c.192C>T, XM_011534183.3:c.192C>T, XM_011534183.2:c.192C>T, XM_011534183.1:c.192C>T, XM_017007364.3:c.192C>T, XM_017007364.2:c.192C>T, XM_017007364.1:c.192C>T, XM_011534189.3:c.192C>T, XM_011534189.2:c.192C>T, XM_011534189.1:c.192C>T, XM_017007366.3:c.192C>T, XM_017007366.2:c.192C>T, XM_017007366.1:c.192C>T, XM_011534192.3:c.192C>T, XM_011534192.2:c.192C>T, XM_011534192.1:c.192C>T, XM_011534193.3:c.192C>T, XM_011534193.2:c.192C>T, XM_011534193.1:c.192C>T, XM_011534194.3:c.192C>T, XM_011534194.2:c.192C>T, XM_011534194.1:c.192C>T, XM_017007371.3:c.192C>T, XM_017007371.2:c.192C>T, XM_017007371.1:c.192C>T, XM_011534195.3:c.192C>T, XM_011534195.2:c.192C>T, XM_011534195.1:c.192C>T, XM_011534196.3:c.192C>T, XM_011534196.2:c.192C>T, XM_011534196.1:c.192C>T, XM_017007374.3:c.192C>T, XM_017007374.2:c.192C>T, XM_017007374.1:c.192C>T, XM_017007376.3:c.192C>T, XM_017007376.2:c.192C>T, XM_017007376.1:c.192C>T, XM_011534203.3:c.192C>T, XM_011534203.2:c.192C>T, XM_011534203.1:c.192C>T, XM_017007377.3:c.192C>T, XM_017007377.2:c.192C>T, XM_017007377.1:c.192C>T, XM_011534197.3:c.192C>T, XM_011534197.2:c.192C>T, XM_011534197.1:c.192C>T, XM_017007383.3:c.192C>T, XM_017007383.2:c.192C>T, XM_017007383.1:c.192C>T, XM_017007386.3:c.192C>T, XM_017007386.2:c.192C>T, XM_017007386.1:c.192C>T, XM_011534199.3:c.192C>T, XM_011534199.2:c.192C>T, XM_011534199.1:c.192C>T, XM_024453799.2:c.192C>T, XM_024453799.1:c.192C>T, XM_017007368.2:c.192C>T, XM_017007368.1:c.192C>T, XM_017007378.2:c.192C>T, XM_017007378.1:c.192C>T, XM_047449093.1:c.192C>T, XM_047449094.1:c.192C>T, XM_047449095.1:c.192C>T, XM_047449096.1:c.192C>T, XM_047449097.1:c.192C>T, XM_047449098.1:c.192C>T, XM_047449099.1:c.192C>T, XM_047449100.1:c.192C>T, XM_047449101.1:c.192C>T, XM_047449102.1:c.192C>T, XM_047449103.1:c.192C>T, XM_047449109.1:c.192C>T, XM_047449105.1:c.192C>T, XM_047449106.1:c.192C>T, XM_047449107.1:c.192C>T, XM_047449108.1:c.192C>T

                8.

                rs1482702155 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:62874621 (GRCh38)
                  3:62860296 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:62874620:G:A
                  Gene:
                  CADPS (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained
                  HGVS:
                  NC_000003.12:g.62874621G>A, NC_000003.11:g.62860296G>A, NG_047093.1:g.5769C>T, NM_003716.4:c.409C>T, NM_003716.3:c.409C>T, NM_183394.3:c.409C>T, NM_183394.2:c.409C>T, NM_183393.3:c.409C>T, NM_183393.2:c.409C>T, XM_011534191.4:c.409C>T, XM_011534191.3:c.409C>T, XM_011534191.2:c.409C>T, XM_011534191.1:c.409C>T, XM_011534198.4:c.409C>T, XM_011534198.3:c.409C>T, XM_011534198.2:c.409C>T, XM_011534198.1:c.409C>T, XM_006713378.4:c.409C>T, XM_006713378.3:c.409C>T, XM_006713378.2:c.409C>T, XM_011534200.4:c.409C>T, XM_011534200.3:c.409C>T, XM_011534200.2:c.409C>T, XM_011534200.1:c.409C>T, XM_011534202.4:c.409C>T, XM_011534202.3:c.409C>T, XM_011534202.2:c.409C>T, XM_011534202.1:c.409C>T, XM_011534177.3:c.409C>T, XM_011534177.2:c.409C>T, XM_011534177.1:c.409C>T, XM_017007360.3:c.409C>T, XM_017007360.2:c.409C>T, XM_017007360.1:c.409C>T, XM_011534178.3:c.409C>T, XM_011534178.2:c.409C>T, XM_011534178.1:c.409C>T, XM_011534180.3:c.409C>T, XM_011534180.2:c.409C>T, XM_011534180.1:c.409C>T, XM_011534182.3:c.409C>T, XM_011534182.2:c.409C>T, XM_011534182.1:c.409C>T, XM_017007363.3:c.409C>T, XM_017007363.2:c.409C>T, XM_017007363.1:c.409C>T, XM_011534183.3:c.409C>T, XM_011534183.2:c.409C>T, XM_011534183.1:c.409C>T, XM_017007364.3:c.409C>T, XM_017007364.2:c.409C>T, XM_017007364.1:c.409C>T, XM_011534189.3:c.409C>T, XM_011534189.2:c.409C>T, XM_011534189.1:c.409C>T, XM_017007366.3:c.409C>T, XM_017007366.2:c.409C>T, XM_017007366.1:c.409C>T, XM_011534192.3:c.409C>T, XM_011534192.2:c.409C>T, XM_011534192.1:c.409C>T, XM_011534193.3:c.409C>T, XM_011534193.2:c.409C>T, XM_011534193.1:c.409C>T, XM_011534194.3:c.409C>T, XM_011534194.2:c.409C>T, XM_011534194.1:c.409C>T, XM_017007371.3:c.409C>T, XM_017007371.2:c.409C>T, XM_017007371.1:c.409C>T, XM_011534195.3:c.409C>T, XM_011534195.2:c.409C>T, XM_011534195.1:c.409C>T, XM_011534196.3:c.409C>T, XM_011534196.2:c.409C>T, XM_011534196.1:c.409C>T, XM_017007374.3:c.409C>T, XM_017007374.2:c.409C>T, XM_017007374.1:c.409C>T, XM_017007376.3:c.409C>T, XM_017007376.2:c.409C>T, XM_017007376.1:c.409C>T, XM_011534203.3:c.409C>T, XM_011534203.2:c.409C>T, XM_011534203.1:c.409C>T, XM_017007377.3:c.409C>T, XM_017007377.2:c.409C>T, XM_017007377.1:c.409C>T, XM_011534197.3:c.409C>T, XM_011534197.2:c.409C>T, XM_011534197.1:c.409C>T, XM_017007383.3:c.409C>T, XM_017007383.2:c.409C>T, XM_017007383.1:c.409C>T, XM_017007386.3:c.409C>T, XM_017007386.2:c.409C>T, XM_017007386.1:c.409C>T, XM_011534199.3:c.409C>T, XM_011534199.2:c.409C>T, XM_011534199.1:c.409C>T, XM_024453799.2:c.409C>T, XM_024453799.1:c.409C>T, XM_017007368.2:c.409C>T, XM_017007368.1:c.409C>T, XM_017007378.2:c.409C>T, XM_017007378.1:c.409C>T, XM_047449093.1:c.409C>T, XM_047449094.1:c.409C>T, XM_047449095.1:c.409C>T, XM_047449096.1:c.409C>T, XM_047449097.1:c.409C>T, XM_047449098.1:c.409C>T, XM_047449099.1:c.409C>T, XM_047449100.1:c.409C>T, XM_047449101.1:c.409C>T, XM_047449102.1:c.409C>T, XM_047449103.1:c.409C>T, XM_047449109.1:c.409C>T, XM_047449105.1:c.409C>T, XM_047449106.1:c.409C>T, XM_047449107.1:c.409C>T, XM_047449108.1:c.409C>T, NP_003707.2:p.Gln137Ter, NP_899631.1:p.Gln137Ter, NP_899630.1:p.Gln137Ter, XP_011532493.1:p.Gln137Ter, XP_011532500.1:p.Gln137Ter, XP_006713441.2:p.Gln137Ter, XP_011532502.1:p.Gln137Ter, XP_011532504.1:p.Gln137Ter, XP_011532479.1:p.Gln137Ter, XP_016862849.1:p.Gln137Ter, XP_011532480.1:p.Gln137Ter, XP_011532482.1:p.Gln137Ter, XP_011532484.1:p.Gln137Ter, XP_016862852.1:p.Gln137Ter, XP_011532485.1:p.Gln137Ter, XP_016862853.1:p.Gln137Ter, XP_011532491.1:p.Gln137Ter, XP_016862855.1:p.Gln137Ter, XP_011532494.1:p.Gln137Ter, XP_011532495.1:p.Gln137Ter, XP_011532496.1:p.Gln137Ter, XP_016862860.1:p.Gln137Ter, XP_011532497.1:p.Gln137Ter, XP_011532498.1:p.Gln137Ter, XP_016862863.1:p.Gln137Ter, XP_016862865.1:p.Gln137Ter, XP_011532505.1:p.Gln137Ter, XP_016862866.1:p.Gln137Ter, XP_011532499.1:p.Gln137Ter, XP_016862872.1:p.Gln137Ter, XP_016862875.1:p.Gln137Ter, XP_011532501.1:p.Gln137Ter, XP_024309567.1:p.Gln137Ter, XP_016862857.1:p.Gln137Ter, XP_016862867.1:p.Gln137Ter, XP_047305049.1:p.Gln137Ter, XP_047305050.1:p.Gln137Ter, XP_047305051.1:p.Gln137Ter, XP_047305052.1:p.Gln137Ter, XP_047305053.1:p.Gln137Ter, XP_047305054.1:p.Gln137Ter, XP_047305055.1:p.Gln137Ter, XP_047305056.1:p.Gln137Ter, XP_047305057.1:p.Gln137Ter, XP_047305058.1:p.Gln137Ter, XP_047305059.1:p.Gln137Ter, XP_047305065.1:p.Gln137Ter, XP_047305061.1:p.Gln137Ter, XP_047305062.1:p.Gln137Ter, XP_047305063.1:p.Gln137Ter, XP_047305064.1:p.Gln137Ter

                  9.

                  rs1482373470 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:62874950 (GRCh38)
                    3:62860625 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:62874949:G:A
                    Gene:
                    CADPS (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000003.12:g.62874950G>A, NC_000003.11:g.62860625G>A, NG_047093.1:g.5440C>T, NM_003716.4:c.80C>T, NM_003716.3:c.80C>T, NM_183394.3:c.80C>T, NM_183394.2:c.80C>T, NM_183393.3:c.80C>T, NM_183393.2:c.80C>T, XM_011534191.4:c.80C>T, XM_011534191.3:c.80C>T, XM_011534191.2:c.80C>T, XM_011534191.1:c.80C>T, XM_011534198.4:c.80C>T, XM_011534198.3:c.80C>T, XM_011534198.2:c.80C>T, XM_011534198.1:c.80C>T, XM_006713378.4:c.80C>T, XM_006713378.3:c.80C>T, XM_006713378.2:c.80C>T, XM_011534200.4:c.80C>T, XM_011534200.3:c.80C>T, XM_011534200.2:c.80C>T, XM_011534200.1:c.80C>T, XM_011534202.4:c.80C>T, XM_011534202.3:c.80C>T, XM_011534202.2:c.80C>T, XM_011534202.1:c.80C>T, XM_011534177.3:c.80C>T, XM_011534177.2:c.80C>T, XM_011534177.1:c.80C>T, XM_017007360.3:c.80C>T, XM_017007360.2:c.80C>T, XM_017007360.1:c.80C>T, XM_011534178.3:c.80C>T, XM_011534178.2:c.80C>T, XM_011534178.1:c.80C>T, XM_011534180.3:c.80C>T, XM_011534180.2:c.80C>T, XM_011534180.1:c.80C>T, XM_011534182.3:c.80C>T, XM_011534182.2:c.80C>T, XM_011534182.1:c.80C>T, XM_017007363.3:c.80C>T, XM_017007363.2:c.80C>T, XM_017007363.1:c.80C>T, XM_011534183.3:c.80C>T, XM_011534183.2:c.80C>T, XM_011534183.1:c.80C>T, XM_017007364.3:c.80C>T, XM_017007364.2:c.80C>T, XM_017007364.1:c.80C>T, XM_011534189.3:c.80C>T, XM_011534189.2:c.80C>T, XM_011534189.1:c.80C>T, XM_017007366.3:c.80C>T, XM_017007366.2:c.80C>T, XM_017007366.1:c.80C>T, XM_011534192.3:c.80C>T, XM_011534192.2:c.80C>T, XM_011534192.1:c.80C>T, XM_011534193.3:c.80C>T, XM_011534193.2:c.80C>T, XM_011534193.1:c.80C>T, XM_011534194.3:c.80C>T, XM_011534194.2:c.80C>T, XM_011534194.1:c.80C>T, XM_017007371.3:c.80C>T, XM_017007371.2:c.80C>T, XM_017007371.1:c.80C>T, XM_011534195.3:c.80C>T, XM_011534195.2:c.80C>T, XM_011534195.1:c.80C>T, XM_011534196.3:c.80C>T, XM_011534196.2:c.80C>T, XM_011534196.1:c.80C>T, XM_017007374.3:c.80C>T, XM_017007374.2:c.80C>T, XM_017007374.1:c.80C>T, XM_017007376.3:c.80C>T, XM_017007376.2:c.80C>T, XM_017007376.1:c.80C>T, XM_011534203.3:c.80C>T, XM_011534203.2:c.80C>T, XM_011534203.1:c.80C>T, XM_017007377.3:c.80C>T, XM_017007377.2:c.80C>T, XM_017007377.1:c.80C>T, XM_011534197.3:c.80C>T, XM_011534197.2:c.80C>T, XM_011534197.1:c.80C>T, XM_017007383.3:c.80C>T, XM_017007383.2:c.80C>T, XM_017007383.1:c.80C>T, XM_017007386.3:c.80C>T, XM_017007386.2:c.80C>T, XM_017007386.1:c.80C>T, XM_011534199.3:c.80C>T, XM_011534199.2:c.80C>T, XM_011534199.1:c.80C>T, XM_024453799.2:c.80C>T, XM_024453799.1:c.80C>T, XM_017007368.2:c.80C>T, XM_017007368.1:c.80C>T, XM_017007378.2:c.80C>T, XM_017007378.1:c.80C>T, XM_047449093.1:c.80C>T, XM_047449094.1:c.80C>T, XM_047449095.1:c.80C>T, XM_047449096.1:c.80C>T, XM_047449097.1:c.80C>T, XM_047449098.1:c.80C>T, XM_047449099.1:c.80C>T, XM_047449100.1:c.80C>T, XM_047449101.1:c.80C>T, XM_047449102.1:c.80C>T, XM_047449103.1:c.80C>T, XM_047449109.1:c.80C>T, XM_047449105.1:c.80C>T, XM_047449106.1:c.80C>T, XM_047449107.1:c.80C>T, XM_047449108.1:c.80C>T, NP_003707.2:p.Ala27Val, NP_899631.1:p.Ala27Val, NP_899630.1:p.Ala27Val, XP_011532493.1:p.Ala27Val, XP_011532500.1:p.Ala27Val, XP_006713441.2:p.Ala27Val, XP_011532502.1:p.Ala27Val, XP_011532504.1:p.Ala27Val, XP_011532479.1:p.Ala27Val, XP_016862849.1:p.Ala27Val, XP_011532480.1:p.Ala27Val, XP_011532482.1:p.Ala27Val, XP_011532484.1:p.Ala27Val, XP_016862852.1:p.Ala27Val, XP_011532485.1:p.Ala27Val, XP_016862853.1:p.Ala27Val, XP_011532491.1:p.Ala27Val, XP_016862855.1:p.Ala27Val, XP_011532494.1:p.Ala27Val, XP_011532495.1:p.Ala27Val, XP_011532496.1:p.Ala27Val, XP_016862860.1:p.Ala27Val, XP_011532497.1:p.Ala27Val, XP_011532498.1:p.Ala27Val, XP_016862863.1:p.Ala27Val, XP_016862865.1:p.Ala27Val, XP_011532505.1:p.Ala27Val, XP_016862866.1:p.Ala27Val, XP_011532499.1:p.Ala27Val, XP_016862872.1:p.Ala27Val, XP_016862875.1:p.Ala27Val, XP_011532501.1:p.Ala27Val, XP_024309567.1:p.Ala27Val, XP_016862857.1:p.Ala27Val, XP_016862867.1:p.Ala27Val, XP_047305049.1:p.Ala27Val, XP_047305050.1:p.Ala27Val, XP_047305051.1:p.Ala27Val, XP_047305052.1:p.Ala27Val, XP_047305053.1:p.Ala27Val, XP_047305054.1:p.Ala27Val, XP_047305055.1:p.Ala27Val, XP_047305056.1:p.Ala27Val, XP_047305057.1:p.Ala27Val, XP_047305058.1:p.Ala27Val, XP_047305059.1:p.Ala27Val, XP_047305065.1:p.Ala27Val, XP_047305061.1:p.Ala27Val, XP_047305062.1:p.Ala27Val, XP_047305063.1:p.Ala27Val, XP_047305064.1:p.Ala27Val

                    10.

                    rs1481898621 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:62536451 (GRCh38)
                      3:62522126 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:62536450:A:C
                      Gene:
                      CADPS (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.62536451A>C, NC_000003.11:g.62522126A>C, NG_047093.1:g.343939T>G, NM_003716.4:c.2097T>G, NM_003716.3:c.2097T>G, NM_183394.3:c.2097T>G, NM_183394.2:c.2097T>G, XM_011534191.4:c.2097T>G, XM_011534191.3:c.2097T>G, XM_011534191.2:c.2097T>G, XM_011534191.1:c.2097T>G, XM_011534198.4:c.2097T>G, XM_011534198.3:c.2097T>G, XM_011534198.2:c.2097T>G, XM_011534198.1:c.2097T>G, XM_006713378.4:c.2109T>G, XM_006713378.3:c.2109T>G, XM_006713378.2:c.2109T>G, XM_006713378.1:c.1599T>G, XM_011534200.4:c.2097T>G, XM_011534200.3:c.2097T>G, XM_011534200.2:c.2097T>G, XM_011534200.1:c.2097T>G, XM_011534202.4:c.2109T>G, XM_011534202.3:c.2109T>G, XM_011534202.2:c.2109T>G, XM_011534202.1:c.2109T>G, XM_011534177.3:c.2109T>G, XM_011534177.2:c.2109T>G, XM_011534177.1:c.2109T>G, XM_017007360.3:c.2109T>G, XM_017007360.2:c.2109T>G, XM_017007360.1:c.2109T>G, XM_011534178.3:c.2109T>G, XM_011534178.2:c.2109T>G, XM_011534178.1:c.2109T>G, XM_011534180.3:c.2109T>G, XM_011534180.2:c.2109T>G, XM_011534180.1:c.2109T>G, XM_011534182.3:c.2109T>G, XM_011534182.2:c.2109T>G, XM_011534182.1:c.2109T>G, XM_017007363.3:c.2109T>G, XM_017007363.2:c.2109T>G, XM_017007363.1:c.2109T>G, XM_011534183.3:c.2109T>G, XM_011534183.2:c.2109T>G, XM_011534183.1:c.2109T>G, XM_017007364.3:c.2109T>G, XM_017007364.2:c.2109T>G, XM_017007364.1:c.2109T>G, XM_011534189.3:c.2109T>G, XM_011534189.2:c.2109T>G, XM_011534189.1:c.2109T>G, XM_017007366.3:c.2109T>G, XM_017007366.2:c.2109T>G, XM_017007366.1:c.2109T>G, XM_011534192.3:c.2109T>G, XM_011534192.2:c.2109T>G, XM_011534192.1:c.2109T>G, XM_011534193.3:c.2109T>G, XM_011534193.2:c.2109T>G, XM_011534193.1:c.2109T>G, XM_011534194.3:c.2109T>G, XM_011534194.2:c.2109T>G, XM_011534194.1:c.2109T>G, XM_017007371.3:c.2109T>G, XM_017007371.2:c.2109T>G, XM_017007371.1:c.2109T>G, XM_011534195.3:c.2109T>G, XM_011534195.2:c.2109T>G, XM_011534195.1:c.2109T>G, XM_011534196.3:c.2109T>G, XM_011534196.2:c.2109T>G, XM_011534196.1:c.2109T>G, XM_017007374.3:c.2109T>G, XM_017007374.2:c.2109T>G, XM_017007374.1:c.2109T>G, XM_017007376.3:c.2109T>G, XM_017007376.2:c.2109T>G, XM_017007376.1:c.2109T>G, XM_011534203.3:c.2109T>G, XM_011534203.2:c.2109T>G, XM_011534203.1:c.2109T>G, XM_017007377.3:c.2097T>G, XM_017007377.2:c.2097T>G, XM_017007377.1:c.2097T>G, XM_011534197.3:c.2097T>G, XM_011534197.2:c.2097T>G, XM_011534197.1:c.2097T>G, XM_017007383.3:c.2109T>G, XM_017007383.2:c.2109T>G, XM_017007383.1:c.2109T>G, XM_017007386.3:c.2109T>G, XM_017007386.2:c.2109T>G, XM_017007386.1:c.2109T>G, XM_011534199.3:c.2097T>G, XM_011534199.2:c.2097T>G, XM_011534199.1:c.2097T>G, XM_024453799.2:c.2109T>G, XM_024453799.1:c.2109T>G, XM_017007368.2:c.2097T>G, XM_017007368.1:c.2097T>G, XM_017007378.2:c.2097T>G, XM_017007378.1:c.2097T>G, XM_047449093.1:c.2109T>G, XM_047449094.1:c.2109T>G, XM_047449095.1:c.2109T>G, XM_047449096.1:c.2109T>G, XM_047449097.1:c.2109T>G, XM_047449098.1:c.2109T>G, XM_047449099.1:c.2109T>G, XM_047449100.1:c.2109T>G, XM_047449101.1:c.2109T>G, XM_047449102.1:c.2109T>G, XM_047449103.1:c.2097T>G, XM_047449109.1:c.2097T>G, XM_047449105.1:c.2097T>G, XM_047449106.1:c.2109T>G, XM_047449107.1:c.2097T>G, XM_047449108.1:c.2109T>G

                      11.

                      rs1480606199 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:62557491 (GRCh38)
                        3:62543166 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:62557490:A:G
                        Gene:
                        CADPS (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.0002/1 (ALFA)
                        G=0.0002/1 (Estonian)
                        HGVS:
                        NC_000003.12:g.62557491A>G, NC_000003.11:g.62543166A>G, NG_047093.1:g.322899T>C, NM_003716.4:c.1667T>C, NM_003716.3:c.1667T>C, NM_183394.3:c.1667T>C, NM_183394.2:c.1667T>C, NM_183393.3:c.1667T>C, NM_183393.2:c.1667T>C, XM_011534191.4:c.1667T>C, XM_011534191.3:c.1667T>C, XM_011534191.2:c.1667T>C, XM_011534191.1:c.1667T>C, XM_011534198.4:c.1667T>C, XM_011534198.3:c.1667T>C, XM_011534198.2:c.1667T>C, XM_011534198.1:c.1667T>C, XM_006713378.4:c.1667T>C, XM_006713378.3:c.1667T>C, XM_006713378.2:c.1667T>C, XM_006713378.1:c.1157T>C, XM_011534200.4:c.1667T>C, XM_011534200.3:c.1667T>C, XM_011534200.2:c.1667T>C, XM_011534200.1:c.1667T>C, XM_011534202.4:c.1667T>C, XM_011534202.3:c.1667T>C, XM_011534202.2:c.1667T>C, XM_011534202.1:c.1667T>C, XM_011534177.3:c.1667T>C, XM_011534177.2:c.1667T>C, XM_011534177.1:c.1667T>C, XM_017007360.3:c.1667T>C, XM_017007360.2:c.1667T>C, XM_017007360.1:c.1667T>C, XM_011534178.3:c.1667T>C, XM_011534178.2:c.1667T>C, XM_011534178.1:c.1667T>C, XM_011534180.3:c.1667T>C, XM_011534180.2:c.1667T>C, XM_011534180.1:c.1667T>C, XM_011534182.3:c.1667T>C, XM_011534182.2:c.1667T>C, XM_011534182.1:c.1667T>C, XM_017007363.3:c.1667T>C, XM_017007363.2:c.1667T>C, XM_017007363.1:c.1667T>C, XM_011534183.3:c.1667T>C, XM_011534183.2:c.1667T>C, XM_011534183.1:c.1667T>C, XM_017007364.3:c.1667T>C, XM_017007364.2:c.1667T>C, XM_017007364.1:c.1667T>C, XM_011534189.3:c.1667T>C, XM_011534189.2:c.1667T>C, XM_011534189.1:c.1667T>C, XM_017007366.3:c.1667T>C, XM_017007366.2:c.1667T>C, XM_017007366.1:c.1667T>C, XM_011534192.3:c.1667T>C, XM_011534192.2:c.1667T>C, XM_011534192.1:c.1667T>C, XM_011534193.3:c.1667T>C, XM_011534193.2:c.1667T>C, XM_011534193.1:c.1667T>C, XM_011534194.3:c.1667T>C, XM_011534194.2:c.1667T>C, XM_011534194.1:c.1667T>C, XM_017007371.3:c.1667T>C, XM_017007371.2:c.1667T>C, XM_017007371.1:c.1667T>C, XM_011534195.3:c.1667T>C, XM_011534195.2:c.1667T>C, XM_011534195.1:c.1667T>C, XM_011534196.3:c.1667T>C, XM_011534196.2:c.1667T>C, XM_011534196.1:c.1667T>C, XM_017007374.3:c.1667T>C, XM_017007374.2:c.1667T>C, XM_017007374.1:c.1667T>C, XM_017007376.3:c.1667T>C, XM_017007376.2:c.1667T>C, XM_017007376.1:c.1667T>C, XM_011534203.3:c.1667T>C, XM_011534203.2:c.1667T>C, XM_011534203.1:c.1667T>C, XM_017007377.3:c.1667T>C, XM_017007377.2:c.1667T>C, XM_017007377.1:c.1667T>C, XM_011534197.3:c.1667T>C, XM_011534197.2:c.1667T>C, XM_011534197.1:c.1667T>C, XM_017007383.3:c.1667T>C, XM_017007383.2:c.1667T>C, XM_017007383.1:c.1667T>C, XM_017007386.3:c.1667T>C, XM_017007386.2:c.1667T>C, XM_017007386.1:c.1667T>C, XM_011534199.3:c.1667T>C, XM_011534199.2:c.1667T>C, XM_011534199.1:c.1667T>C, XM_024453799.2:c.1667T>C, XM_024453799.1:c.1667T>C, XM_017007368.2:c.1667T>C, XM_017007368.1:c.1667T>C, XM_017007378.2:c.1667T>C, XM_017007378.1:c.1667T>C, XM_047449093.1:c.1667T>C, XM_047449094.1:c.1667T>C, XM_047449095.1:c.1667T>C, XM_047449096.1:c.1667T>C, XM_047449097.1:c.1667T>C, XM_047449098.1:c.1667T>C, XM_047449099.1:c.1667T>C, XM_047449100.1:c.1667T>C, XM_047449101.1:c.1667T>C, XM_047449102.1:c.1667T>C, XM_047449103.1:c.1667T>C, XM_047449109.1:c.1667T>C, XM_047449105.1:c.1667T>C, XM_047449106.1:c.1667T>C, XM_047449107.1:c.1667T>C, XM_047449108.1:c.1667T>C, NP_003707.2:p.Met556Thr, NP_899631.1:p.Met556Thr, NP_899630.1:p.Met556Thr, XP_011532493.1:p.Met556Thr, XP_011532500.1:p.Met556Thr, XP_006713441.2:p.Met556Thr, XP_011532502.1:p.Met556Thr, XP_011532504.1:p.Met556Thr, XP_011532479.1:p.Met556Thr, XP_016862849.1:p.Met556Thr, XP_011532480.1:p.Met556Thr, XP_011532482.1:p.Met556Thr, XP_011532484.1:p.Met556Thr, XP_016862852.1:p.Met556Thr, XP_011532485.1:p.Met556Thr, XP_016862853.1:p.Met556Thr, XP_011532491.1:p.Met556Thr, XP_016862855.1:p.Met556Thr, XP_011532494.1:p.Met556Thr, XP_011532495.1:p.Met556Thr, XP_011532496.1:p.Met556Thr, XP_016862860.1:p.Met556Thr, XP_011532497.1:p.Met556Thr, XP_011532498.1:p.Met556Thr, XP_016862863.1:p.Met556Thr, XP_016862865.1:p.Met556Thr, XP_011532505.1:p.Met556Thr, XP_016862866.1:p.Met556Thr, XP_011532499.1:p.Met556Thr, XP_016862872.1:p.Met556Thr, XP_016862875.1:p.Met556Thr, XP_011532501.1:p.Met556Thr, XP_024309567.1:p.Met556Thr, XP_016862857.1:p.Met556Thr, XP_016862867.1:p.Met556Thr, XP_047305049.1:p.Met556Thr, XP_047305050.1:p.Met556Thr, XP_047305051.1:p.Met556Thr, XP_047305052.1:p.Met556Thr, XP_047305053.1:p.Met556Thr, XP_047305054.1:p.Met556Thr, XP_047305055.1:p.Met556Thr, XP_047305056.1:p.Met556Thr, XP_047305057.1:p.Met556Thr, XP_047305058.1:p.Met556Thr, XP_047305059.1:p.Met556Thr, XP_047305065.1:p.Met556Thr, XP_047305061.1:p.Met556Thr, XP_047305062.1:p.Met556Thr, XP_047305063.1:p.Met556Thr, XP_047305064.1:p.Met556Thr

                        12.

                        rs1480368155 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:62874875 (GRCh38)
                          3:62860550 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:62874874:C:A
                          Gene:
                          CADPS (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000003.12:g.62874875C>A, NC_000003.11:g.62860550C>A, NG_047093.1:g.5515G>T, NM_003716.4:c.155G>T, NM_003716.3:c.155G>T, NM_183394.3:c.155G>T, NM_183394.2:c.155G>T, NM_183393.3:c.155G>T, NM_183393.2:c.155G>T, XM_011534191.4:c.155G>T, XM_011534191.3:c.155G>T, XM_011534191.2:c.155G>T, XM_011534191.1:c.155G>T, XM_011534198.4:c.155G>T, XM_011534198.3:c.155G>T, XM_011534198.2:c.155G>T, XM_011534198.1:c.155G>T, XM_006713378.4:c.155G>T, XM_006713378.3:c.155G>T, XM_006713378.2:c.155G>T, XM_011534200.4:c.155G>T, XM_011534200.3:c.155G>T, XM_011534200.2:c.155G>T, XM_011534200.1:c.155G>T, XM_011534202.4:c.155G>T, XM_011534202.3:c.155G>T, XM_011534202.2:c.155G>T, XM_011534202.1:c.155G>T, XM_011534177.3:c.155G>T, XM_011534177.2:c.155G>T, XM_011534177.1:c.155G>T, XM_017007360.3:c.155G>T, XM_017007360.2:c.155G>T, XM_017007360.1:c.155G>T, XM_011534178.3:c.155G>T, XM_011534178.2:c.155G>T, XM_011534178.1:c.155G>T, XM_011534180.3:c.155G>T, XM_011534180.2:c.155G>T, XM_011534180.1:c.155G>T, XM_011534182.3:c.155G>T, XM_011534182.2:c.155G>T, XM_011534182.1:c.155G>T, XM_017007363.3:c.155G>T, XM_017007363.2:c.155G>T, XM_017007363.1:c.155G>T, XM_011534183.3:c.155G>T, XM_011534183.2:c.155G>T, XM_011534183.1:c.155G>T, XM_017007364.3:c.155G>T, XM_017007364.2:c.155G>T, XM_017007364.1:c.155G>T, XM_011534189.3:c.155G>T, XM_011534189.2:c.155G>T, XM_011534189.1:c.155G>T, XM_017007366.3:c.155G>T, XM_017007366.2:c.155G>T, XM_017007366.1:c.155G>T, XM_011534192.3:c.155G>T, XM_011534192.2:c.155G>T, XM_011534192.1:c.155G>T, XM_011534193.3:c.155G>T, XM_011534193.2:c.155G>T, XM_011534193.1:c.155G>T, XM_011534194.3:c.155G>T, XM_011534194.2:c.155G>T, XM_011534194.1:c.155G>T, XM_017007371.3:c.155G>T, XM_017007371.2:c.155G>T, XM_017007371.1:c.155G>T, XM_011534195.3:c.155G>T, XM_011534195.2:c.155G>T, XM_011534195.1:c.155G>T, XM_011534196.3:c.155G>T, XM_011534196.2:c.155G>T, XM_011534196.1:c.155G>T, XM_017007374.3:c.155G>T, XM_017007374.2:c.155G>T, XM_017007374.1:c.155G>T, XM_017007376.3:c.155G>T, XM_017007376.2:c.155G>T, XM_017007376.1:c.155G>T, XM_011534203.3:c.155G>T, XM_011534203.2:c.155G>T, XM_011534203.1:c.155G>T, XM_017007377.3:c.155G>T, XM_017007377.2:c.155G>T, XM_017007377.1:c.155G>T, XM_011534197.3:c.155G>T, XM_011534197.2:c.155G>T, XM_011534197.1:c.155G>T, XM_017007383.3:c.155G>T, XM_017007383.2:c.155G>T, XM_017007383.1:c.155G>T, XM_017007386.3:c.155G>T, XM_017007386.2:c.155G>T, XM_017007386.1:c.155G>T, XM_011534199.3:c.155G>T, XM_011534199.2:c.155G>T, XM_011534199.1:c.155G>T, XM_024453799.2:c.155G>T, XM_024453799.1:c.155G>T, XM_017007368.2:c.155G>T, XM_017007368.1:c.155G>T, XM_017007378.2:c.155G>T, XM_017007378.1:c.155G>T, XM_047449093.1:c.155G>T, XM_047449094.1:c.155G>T, XM_047449095.1:c.155G>T, XM_047449096.1:c.155G>T, XM_047449097.1:c.155G>T, XM_047449098.1:c.155G>T, XM_047449099.1:c.155G>T, XM_047449100.1:c.155G>T, XM_047449101.1:c.155G>T, XM_047449102.1:c.155G>T, XM_047449103.1:c.155G>T, XM_047449109.1:c.155G>T, XM_047449105.1:c.155G>T, XM_047449106.1:c.155G>T, XM_047449107.1:c.155G>T, XM_047449108.1:c.155G>T, NP_003707.2:p.Gly52Val, NP_899631.1:p.Gly52Val, NP_899630.1:p.Gly52Val, XP_011532493.1:p.Gly52Val, XP_011532500.1:p.Gly52Val, XP_006713441.2:p.Gly52Val, XP_011532502.1:p.Gly52Val, XP_011532504.1:p.Gly52Val, XP_011532479.1:p.Gly52Val, XP_016862849.1:p.Gly52Val, XP_011532480.1:p.Gly52Val, XP_011532482.1:p.Gly52Val, XP_011532484.1:p.Gly52Val, XP_016862852.1:p.Gly52Val, XP_011532485.1:p.Gly52Val, XP_016862853.1:p.Gly52Val, XP_011532491.1:p.Gly52Val, XP_016862855.1:p.Gly52Val, XP_011532494.1:p.Gly52Val, XP_011532495.1:p.Gly52Val, XP_011532496.1:p.Gly52Val, XP_016862860.1:p.Gly52Val, XP_011532497.1:p.Gly52Val, XP_011532498.1:p.Gly52Val, XP_016862863.1:p.Gly52Val, XP_016862865.1:p.Gly52Val, XP_011532505.1:p.Gly52Val, XP_016862866.1:p.Gly52Val, XP_011532499.1:p.Gly52Val, XP_016862872.1:p.Gly52Val, XP_016862875.1:p.Gly52Val, XP_011532501.1:p.Gly52Val, XP_024309567.1:p.Gly52Val, XP_016862857.1:p.Gly52Val, XP_016862867.1:p.Gly52Val, XP_047305049.1:p.Gly52Val, XP_047305050.1:p.Gly52Val, XP_047305051.1:p.Gly52Val, XP_047305052.1:p.Gly52Val, XP_047305053.1:p.Gly52Val, XP_047305054.1:p.Gly52Val, XP_047305055.1:p.Gly52Val, XP_047305056.1:p.Gly52Val, XP_047305057.1:p.Gly52Val, XP_047305058.1:p.Gly52Val, XP_047305059.1:p.Gly52Val, XP_047305065.1:p.Gly52Val, XP_047305061.1:p.Gly52Val, XP_047305062.1:p.Gly52Val, XP_047305063.1:p.Gly52Val, XP_047305064.1:p.Gly52Val

                          13.

                          rs1478415522 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:62403102 (GRCh38)
                            3:62388777 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:62403101:T:C
                            Gene:
                            CADPS (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                            HGVS:
                            NC_000003.12:g.62403102T>C, NC_000003.11:g.62388777T>C, NG_047093.1:g.477288A>G, NM_003716.4:c.3861A>G, NM_003716.3:c.3861A>G, NM_183394.3:c.3744A>G, NM_183394.2:c.3744A>G, NM_183393.3:c.3624A>G, NM_183393.2:c.3624A>G, XM_011534191.4:c.3891A>G, XM_011534191.3:c.3891A>G, XM_011534191.2:c.3891A>G, XM_011534191.1:c.3891A>G, XM_011534198.4:c.3693A>G, XM_011534198.3:c.3693A>G, XM_011534198.2:c.3693A>G, XM_011534198.1:c.3693A>G, XM_006713378.4:c.3687A>G, XM_006713378.3:c.3687A>G, XM_006713378.2:c.3687A>G, XM_006713378.1:c.3177A>G, XM_011534200.4:c.3675A>G, XM_011534200.3:c.3675A>G, XM_011534200.2:c.3675A>G, XM_011534200.1:c.3675A>G, XM_011534177.3:c.4095A>G, XM_011534177.2:c.4095A>G, XM_011534177.1:c.4095A>G, XM_017007360.3:c.4080A>G, XM_017007360.2:c.4080A>G, XM_017007360.1:c.4080A>G, XM_011534178.3:c.4077A>G, XM_011534178.2:c.4077A>G, XM_011534178.1:c.4077A>G, XM_011534180.3:c.4047A>G, XM_011534180.2:c.4047A>G, XM_011534180.1:c.4047A>G, XM_011534182.3:c.4026A>G, XM_011534182.2:c.4026A>G, XM_011534182.1:c.4026A>G, XM_017007363.3:c.4011A>G, XM_017007363.2:c.4011A>G, XM_017007363.1:c.4011A>G, XM_011534183.3:c.4008A>G, XM_011534183.2:c.4008A>G, XM_011534183.1:c.4008A>G, XM_017007364.3:c.3933A>G, XM_017007364.2:c.3933A>G, XM_017007364.1:c.3933A>G, XM_011534189.3:c.3930A>G, XM_011534189.2:c.3930A>G, XM_011534189.1:c.3930A>G, XM_017007366.3:c.3915A>G, XM_017007366.2:c.3915A>G, XM_017007366.1:c.3915A>G, XM_011534192.3:c.3888A>G, XM_011534192.2:c.3888A>G, XM_011534192.1:c.3888A>G, XM_011534193.3:c.3876A>G, XM_011534193.2:c.3876A>G, XM_011534193.1:c.3876A>G, XM_011534194.3:c.3873A>G, XM_011534194.2:c.3873A>G, XM_011534194.1:c.3873A>G, XM_017007371.3:c.3864A>G, XM_017007371.2:c.3864A>G, XM_017007371.1:c.3864A>G, XM_011534195.3:c.3861A>G, XM_011534195.2:c.3861A>G, XM_011534195.1:c.3861A>G, XM_011534196.3:c.3858A>G, XM_011534196.2:c.3858A>G, XM_011534196.1:c.3858A>G, XM_017007374.3:c.3852A>G, XM_017007374.2:c.3852A>G, XM_017007374.1:c.3852A>G, XM_017007376.3:c.3846A>G, XM_017007376.2:c.3846A>G, XM_017007376.1:c.3846A>G, XM_011534203.3:c.3843A>G, XM_011534203.2:c.3843A>G, XM_011534203.1:c.3843A>G, XM_017007377.3:c.3840A>G, XM_017007377.2:c.3840A>G, XM_017007377.1:c.3840A>G, XM_011534197.3:c.3834A>G, XM_011534197.2:c.3834A>G, XM_011534197.1:c.3834A>G, XM_017007383.3:c.3756A>G, XM_017007383.2:c.3756A>G, XM_017007383.1:c.3756A>G, XM_017007386.3:c.3705A>G, XM_017007386.2:c.3705A>G, XM_017007386.1:c.3705A>G, XM_011534199.3:c.3690A>G, XM_011534199.2:c.3690A>G, XM_011534199.1:c.3690A>G, XM_024453799.2:c.3948A>G, XM_024453799.1:c.3948A>G, XM_017007368.2:c.3906A>G, XM_017007368.1:c.3906A>G, XM_017007378.2:c.3837A>G, XM_017007378.1:c.3837A>G, XM_047449093.1:c.4107A>G, XM_047449094.1:c.4098A>G, XM_047449095.1:c.4092A>G, XM_047449096.1:c.4086A>G, XM_047449097.1:c.4062A>G, XM_047449098.1:c.4056A>G, XM_047449099.1:c.4038A>G, XM_047449100.1:c.3939A>G, XM_047449101.1:c.3924A>G, XM_047449102.1:c.3921A>G, XM_047449103.1:c.3909A>G, XM_047449109.1:c.3900A>G, XM_047449105.1:c.3849A>G, XM_047449106.1:c.3774A>G, XM_047449107.1:c.3762A>G, XM_047449108.1:c.3696A>G

                            14.

                            rs1478007676 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:62874781 (GRCh38)
                              3:62860456 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:62874780:G:A
                              Gene:
                              CADPS (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.0001/1 (ALFA)
                              HGVS:
                              NC_000003.12:g.62874781G>A, NC_000003.11:g.62860456G>A, NG_047093.1:g.5609C>T, NM_003716.4:c.249C>T, NM_003716.3:c.249C>T, NM_183394.3:c.249C>T, NM_183394.2:c.249C>T, NM_183393.3:c.249C>T, NM_183393.2:c.249C>T, XM_011534191.4:c.249C>T, XM_011534191.3:c.249C>T, XM_011534191.2:c.249C>T, XM_011534191.1:c.249C>T, XM_011534198.4:c.249C>T, XM_011534198.3:c.249C>T, XM_011534198.2:c.249C>T, XM_011534198.1:c.249C>T, XM_006713378.4:c.249C>T, XM_006713378.3:c.249C>T, XM_006713378.2:c.249C>T, XM_011534200.4:c.249C>T, XM_011534200.3:c.249C>T, XM_011534200.2:c.249C>T, XM_011534200.1:c.249C>T, XM_011534202.4:c.249C>T, XM_011534202.3:c.249C>T, XM_011534202.2:c.249C>T, XM_011534202.1:c.249C>T, XM_011534177.3:c.249C>T, XM_011534177.2:c.249C>T, XM_011534177.1:c.249C>T, XM_017007360.3:c.249C>T, XM_017007360.2:c.249C>T, XM_017007360.1:c.249C>T, XM_011534178.3:c.249C>T, XM_011534178.2:c.249C>T, XM_011534178.1:c.249C>T, XM_011534180.3:c.249C>T, XM_011534180.2:c.249C>T, XM_011534180.1:c.249C>T, XM_011534182.3:c.249C>T, XM_011534182.2:c.249C>T, XM_011534182.1:c.249C>T, XM_017007363.3:c.249C>T, XM_017007363.2:c.249C>T, XM_017007363.1:c.249C>T, XM_011534183.3:c.249C>T, XM_011534183.2:c.249C>T, XM_011534183.1:c.249C>T, XM_017007364.3:c.249C>T, XM_017007364.2:c.249C>T, XM_017007364.1:c.249C>T, XM_011534189.3:c.249C>T, XM_011534189.2:c.249C>T, XM_011534189.1:c.249C>T, XM_017007366.3:c.249C>T, XM_017007366.2:c.249C>T, XM_017007366.1:c.249C>T, XM_011534192.3:c.249C>T, XM_011534192.2:c.249C>T, XM_011534192.1:c.249C>T, XM_011534193.3:c.249C>T, XM_011534193.2:c.249C>T, XM_011534193.1:c.249C>T, XM_011534194.3:c.249C>T, XM_011534194.2:c.249C>T, XM_011534194.1:c.249C>T, XM_017007371.3:c.249C>T, XM_017007371.2:c.249C>T, XM_017007371.1:c.249C>T, XM_011534195.3:c.249C>T, XM_011534195.2:c.249C>T, XM_011534195.1:c.249C>T, XM_011534196.3:c.249C>T, XM_011534196.2:c.249C>T, XM_011534196.1:c.249C>T, XM_017007374.3:c.249C>T, XM_017007374.2:c.249C>T, XM_017007374.1:c.249C>T, XM_017007376.3:c.249C>T, XM_017007376.2:c.249C>T, XM_017007376.1:c.249C>T, XM_011534203.3:c.249C>T, XM_011534203.2:c.249C>T, XM_011534203.1:c.249C>T, XM_017007377.3:c.249C>T, XM_017007377.2:c.249C>T, XM_017007377.1:c.249C>T, XM_011534197.3:c.249C>T, XM_011534197.2:c.249C>T, XM_011534197.1:c.249C>T, XM_017007383.3:c.249C>T, XM_017007383.2:c.249C>T, XM_017007383.1:c.249C>T, XM_017007386.3:c.249C>T, XM_017007386.2:c.249C>T, XM_017007386.1:c.249C>T, XM_011534199.3:c.249C>T, XM_011534199.2:c.249C>T, XM_011534199.1:c.249C>T, XM_024453799.2:c.249C>T, XM_024453799.1:c.249C>T, XM_017007368.2:c.249C>T, XM_017007368.1:c.249C>T, XM_017007378.2:c.249C>T, XM_017007378.1:c.249C>T, XM_047449093.1:c.249C>T, XM_047449094.1:c.249C>T, XM_047449095.1:c.249C>T, XM_047449096.1:c.249C>T, XM_047449097.1:c.249C>T, XM_047449098.1:c.249C>T, XM_047449099.1:c.249C>T, XM_047449100.1:c.249C>T, XM_047449101.1:c.249C>T, XM_047449102.1:c.249C>T, XM_047449103.1:c.249C>T, XM_047449109.1:c.249C>T, XM_047449105.1:c.249C>T, XM_047449106.1:c.249C>T, XM_047449107.1:c.249C>T, XM_047449108.1:c.249C>T

                              15.

                              rs1475758257 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:62491383 (GRCh38)
                                3:62477058 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:62491382:T:C
                                Gene:
                                CADPS (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000546/1 (Korea1K)
                                HGVS:
                                NC_000003.12:g.62491383T>C, NC_000003.11:g.62477058T>C, NG_047093.1:g.389007A>G, NM_003716.4:c.2982A>G, NM_003716.3:c.2982A>G, NM_183394.3:c.3012A>G, NM_183394.2:c.3012A>G, NM_183393.3:c.2892A>G, NM_183393.2:c.2892A>G, XM_011534191.4:c.3012A>G, XM_011534191.3:c.3012A>G, XM_011534191.2:c.3012A>G, XM_011534191.1:c.3012A>G, XM_011534198.4:c.2961A>G, XM_011534198.3:c.2961A>G, XM_011534198.2:c.2961A>G, XM_011534198.1:c.2961A>G, XM_006713378.4:c.2955A>G, XM_006713378.3:c.2955A>G, XM_006713378.2:c.2955A>G, XM_006713378.1:c.2445A>G, XM_011534200.4:c.2943A>G, XM_011534200.3:c.2943A>G, XM_011534200.2:c.2943A>G, XM_011534200.1:c.2943A>G, XM_011534177.3:c.3201A>G, XM_011534177.2:c.3201A>G, XM_011534177.1:c.3201A>G, XM_017007360.3:c.3201A>G, XM_017007360.2:c.3201A>G, XM_017007360.1:c.3201A>G, XM_011534178.3:c.3183A>G, XM_011534178.2:c.3183A>G, XM_011534178.1:c.3183A>G, XM_011534180.3:c.3153A>G, XM_011534180.2:c.3153A>G, XM_011534180.1:c.3153A>G, XM_011534182.3:c.3132A>G, XM_011534182.2:c.3132A>G, XM_011534182.1:c.3132A>G, XM_017007363.3:c.3132A>G, XM_017007363.2:c.3132A>G, XM_017007363.1:c.3132A>G, XM_011534183.3:c.3114A>G, XM_011534183.2:c.3114A>G, XM_011534183.1:c.3114A>G, XM_017007364.3:c.3201A>G, XM_017007364.2:c.3201A>G, XM_017007364.1:c.3201A>G, XM_011534189.3:c.3183A>G, XM_011534189.2:c.3183A>G, XM_011534189.1:c.3183A>G, XM_017007366.3:c.3183A>G, XM_017007366.2:c.3183A>G, XM_017007366.1:c.3183A>G, XM_011534192.3:c.3141A>G, XM_011534192.2:c.3141A>G, XM_011534192.1:c.3141A>G, XM_011534193.3:c.2982A>G, XM_011534193.2:c.2982A>G, XM_011534193.1:c.2982A>G, XM_011534194.3:c.2994A>G, XM_011534194.2:c.2994A>G, XM_011534194.1:c.2994A>G, XM_017007371.3:c.3132A>G, XM_017007371.2:c.3132A>G, XM_017007371.1:c.3132A>G, XM_011534195.3:c.3114A>G, XM_011534195.2:c.3114A>G, XM_011534195.1:c.3114A>G, XM_011534196.3:c.2964A>G, XM_011534196.2:c.2964A>G, XM_011534196.1:c.2964A>G, XM_017007374.3:c.2973A>G, XM_017007374.2:c.2973A>G, XM_017007374.1:c.2973A>G, XM_017007376.3:c.3114A>G, XM_017007376.2:c.3114A>G, XM_017007376.1:c.3114A>G, XM_011534203.3:c.2964A>G, XM_011534203.2:c.2964A>G, XM_011534203.1:c.2964A>G, XM_017007377.3:c.2961A>G, XM_017007377.2:c.2961A>G, XM_017007377.1:c.2961A>G, XM_011534197.3:c.3102A>G, XM_011534197.2:c.3102A>G, XM_011534197.1:c.3102A>G, XM_017007383.3:c.3024A>G, XM_017007383.2:c.3024A>G, XM_017007383.1:c.3024A>G, XM_017007386.3:c.2973A>G, XM_017007386.2:c.2973A>G, XM_017007386.1:c.2973A>G, XM_011534199.3:c.2943A>G, XM_011534199.2:c.2943A>G, XM_011534199.1:c.2943A>G, XM_024453799.2:c.3201A>G, XM_024453799.1:c.3201A>G, XM_017007368.2:c.3012A>G, XM_017007368.1:c.3012A>G, XM_017007378.2:c.2943A>G, XM_017007378.1:c.2943A>G, XM_047449093.1:c.3213A>G, XM_047449094.1:c.3204A>G, XM_047449095.1:c.3213A>G, XM_047449096.1:c.3192A>G, XM_047449097.1:c.3183A>G, XM_047449098.1:c.3162A>G, XM_047449099.1:c.3144A>G, XM_047449100.1:c.3192A>G, XM_047449101.1:c.3192A>G, XM_047449102.1:c.3042A>G, XM_047449103.1:c.3030A>G, XM_047449109.1:c.3021A>G, XM_047449105.1:c.3102A>G, XM_047449106.1:c.3042A>G, XM_047449107.1:c.3030A>G, XM_047449108.1:c.2964A>G

                                16.

                                rs1475353469 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:62438125 (GRCh38)
                                  3:62423800 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:62438124:C:T
                                  Gene:
                                  CADPS (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.62438125C>T, NC_000003.11:g.62423800C>T, NG_047093.1:g.442265G>A, NM_003716.4:c.3756G>A, NM_003716.3:c.3756G>A, NM_183394.3:c.3639G>A, NM_183394.2:c.3639G>A, NM_183393.3:c.3519G>A, NM_183393.2:c.3519G>A, XM_011534191.4:c.3786G>A, XM_011534191.3:c.3786G>A, XM_011534191.2:c.3786G>A, XM_011534191.1:c.3786G>A, XM_011534198.4:c.3588G>A, XM_011534198.3:c.3588G>A, XM_011534198.2:c.3588G>A, XM_011534198.1:c.3588G>A, XM_006713378.4:c.3582G>A, XM_006713378.3:c.3582G>A, XM_006713378.2:c.3582G>A, XM_006713378.1:c.3072G>A, XM_011534200.4:c.3570G>A, XM_011534200.3:c.3570G>A, XM_011534200.2:c.3570G>A, XM_011534200.1:c.3570G>A, XM_011534177.3:c.3990G>A, XM_011534177.2:c.3990G>A, XM_011534177.1:c.3990G>A, XM_017007360.3:c.3975G>A, XM_017007360.2:c.3975G>A, XM_017007360.1:c.3975G>A, XM_011534178.3:c.3972G>A, XM_011534178.2:c.3972G>A, XM_011534178.1:c.3972G>A, XM_011534180.3:c.3942G>A, XM_011534180.2:c.3942G>A, XM_011534180.1:c.3942G>A, XM_011534182.3:c.3921G>A, XM_011534182.2:c.3921G>A, XM_011534182.1:c.3921G>A, XM_017007363.3:c.3906G>A, XM_017007363.2:c.3906G>A, XM_017007363.1:c.3906G>A, XM_011534183.3:c.3903G>A, XM_011534183.2:c.3903G>A, XM_011534183.1:c.3903G>A, XM_017007364.3:c.3828G>A, XM_017007364.2:c.3828G>A, XM_017007364.1:c.3828G>A, XM_011534189.3:c.3825G>A, XM_011534189.2:c.3825G>A, XM_011534189.1:c.3825G>A, XM_017007366.3:c.3810G>A, XM_017007366.2:c.3810G>A, XM_017007366.1:c.3810G>A, XM_011534192.3:c.3783G>A, XM_011534192.2:c.3783G>A, XM_011534192.1:c.3783G>A, XM_011534193.3:c.3771G>A, XM_011534193.2:c.3771G>A, XM_011534193.1:c.3771G>A, XM_011534194.3:c.3768G>A, XM_011534194.2:c.3768G>A, XM_011534194.1:c.3768G>A, XM_017007371.3:c.3759G>A, XM_017007371.2:c.3759G>A, XM_017007371.1:c.3759G>A, XM_011534195.3:c.3756G>A, XM_011534195.2:c.3756G>A, XM_011534195.1:c.3756G>A, XM_011534196.3:c.3753G>A, XM_011534196.2:c.3753G>A, XM_011534196.1:c.3753G>A, XM_017007374.3:c.3747G>A, XM_017007374.2:c.3747G>A, XM_017007374.1:c.3747G>A, XM_017007376.3:c.3741G>A, XM_017007376.2:c.3741G>A, XM_017007376.1:c.3741G>A, XM_011534203.3:c.3738G>A, XM_011534203.2:c.3738G>A, XM_011534203.1:c.3738G>A, XM_017007377.3:c.3735G>A, XM_017007377.2:c.3735G>A, XM_017007377.1:c.3735G>A, XM_011534197.3:c.3729G>A, XM_011534197.2:c.3729G>A, XM_011534197.1:c.3729G>A, XM_017007383.3:c.3651G>A, XM_017007383.2:c.3651G>A, XM_017007383.1:c.3651G>A, XM_017007386.3:c.3600G>A, XM_017007386.2:c.3600G>A, XM_017007386.1:c.3600G>A, XM_011534199.3:c.3585G>A, XM_011534199.2:c.3585G>A, XM_011534199.1:c.3585G>A, XM_024453799.2:c.3843G>A, XM_024453799.1:c.3843G>A, XM_017007368.2:c.3801G>A, XM_017007368.1:c.3801G>A, XM_017007378.2:c.3732G>A, XM_017007378.1:c.3732G>A, XM_047449093.1:c.4002G>A, XM_047449094.1:c.3993G>A, XM_047449095.1:c.3987G>A, XM_047449096.1:c.3981G>A, XM_047449097.1:c.3957G>A, XM_047449098.1:c.3951G>A, XM_047449099.1:c.3933G>A, XM_047449100.1:c.3834G>A, XM_047449101.1:c.3819G>A, XM_047449102.1:c.3816G>A, XM_047449103.1:c.3804G>A, XM_047449109.1:c.3795G>A, XM_047449105.1:c.3744G>A, XM_047449106.1:c.3669G>A, XM_047449107.1:c.3657G>A, XM_047449108.1:c.3591G>A, NP_003707.2:p.Met1252Ile, NP_899631.1:p.Met1213Ile, NP_899630.1:p.Met1173Ile, XP_011532493.1:p.Met1262Ile, XP_011532500.1:p.Met1196Ile, XP_006713441.2:p.Met1194Ile, XP_011532502.1:p.Met1190Ile, XP_011532479.1:p.Met1330Ile, XP_016862849.1:p.Met1325Ile, XP_011532480.1:p.Met1324Ile, XP_011532482.1:p.Met1314Ile, XP_011532484.1:p.Met1307Ile, XP_016862852.1:p.Met1302Ile, XP_011532485.1:p.Met1301Ile, XP_016862853.1:p.Met1276Ile, XP_011532491.1:p.Met1275Ile, XP_016862855.1:p.Met1270Ile, XP_011532494.1:p.Met1261Ile, XP_011532495.1:p.Met1257Ile, XP_011532496.1:p.Met1256Ile, XP_016862860.1:p.Met1253Ile, XP_011532497.1:p.Met1252Ile, XP_011532498.1:p.Met1251Ile, XP_016862863.1:p.Met1249Ile, XP_016862865.1:p.Met1247Ile, XP_011532505.1:p.Met1246Ile, XP_016862866.1:p.Met1245Ile, XP_011532499.1:p.Met1243Ile, XP_016862872.1:p.Met1217Ile, XP_016862875.1:p.Met1200Ile, XP_011532501.1:p.Met1195Ile, XP_024309567.1:p.Met1281Ile, XP_016862857.1:p.Met1267Ile, XP_016862867.1:p.Met1244Ile, XP_047305049.1:p.Met1334Ile, XP_047305050.1:p.Met1331Ile, XP_047305051.1:p.Met1329Ile, XP_047305052.1:p.Met1327Ile, XP_047305053.1:p.Met1319Ile, XP_047305054.1:p.Met1317Ile, XP_047305055.1:p.Met1311Ile, XP_047305056.1:p.Met1278Ile, XP_047305057.1:p.Met1273Ile, XP_047305058.1:p.Met1272Ile, XP_047305059.1:p.Met1268Ile, XP_047305065.1:p.Met1265Ile, XP_047305061.1:p.Met1248Ile, XP_047305062.1:p.Met1223Ile, XP_047305063.1:p.Met1219Ile, XP_047305064.1:p.Met1197Ile

                                  17.

                                  rs1474748774 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:62474308 (GRCh38)
                                    3:62459983 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:62474307:T:C
                                    Gene:
                                    CADPS (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.62474308T>C, NC_000003.11:g.62459983T>C, NG_047093.1:g.406082A>G, NM_003716.4:c.3342A>G, NM_003716.3:c.3342A>G, NM_183394.3:c.3225A>G, NM_183394.2:c.3225A>G, NM_183393.3:c.3105A>G, NM_183393.2:c.3105A>G, XM_011534191.4:c.3372A>G, XM_011534191.3:c.3372A>G, XM_011534191.2:c.3372A>G, XM_011534191.1:c.3372A>G, XM_011534198.4:c.3174A>G, XM_011534198.3:c.3174A>G, XM_011534198.2:c.3174A>G, XM_011534198.1:c.3174A>G, XM_006713378.4:c.3168A>G, XM_006713378.3:c.3168A>G, XM_006713378.2:c.3168A>G, XM_006713378.1:c.2658A>G, XM_011534200.4:c.3156A>G, XM_011534200.3:c.3156A>G, XM_011534200.2:c.3156A>G, XM_011534200.1:c.3156A>G, XM_011534177.3:c.3561A>G, XM_011534177.2:c.3561A>G, XM_011534177.1:c.3561A>G, XM_017007360.3:c.3561A>G, XM_017007360.2:c.3561A>G, XM_017007360.1:c.3561A>G, XM_011534178.3:c.3543A>G, XM_011534178.2:c.3543A>G, XM_011534178.1:c.3543A>G, XM_011534180.3:c.3513A>G, XM_011534180.2:c.3513A>G, XM_011534180.1:c.3513A>G, XM_011534182.3:c.3492A>G, XM_011534182.2:c.3492A>G, XM_011534182.1:c.3492A>G, XM_017007363.3:c.3492A>G, XM_017007363.2:c.3492A>G, XM_017007363.1:c.3492A>G, XM_011534183.3:c.3474A>G, XM_011534183.2:c.3474A>G, XM_011534183.1:c.3474A>G, XM_017007364.3:c.3414A>G, XM_017007364.2:c.3414A>G, XM_017007364.1:c.3414A>G, XM_011534189.3:c.3396A>G, XM_011534189.2:c.3396A>G, XM_011534189.1:c.3396A>G, XM_017007366.3:c.3396A>G, XM_017007366.2:c.3396A>G, XM_017007366.1:c.3396A>G, XM_011534192.3:c.3354A>G, XM_011534192.2:c.3354A>G, XM_011534192.1:c.3354A>G, XM_011534193.3:c.3342A>G, XM_011534193.2:c.3342A>G, XM_011534193.1:c.3342A>G, XM_011534194.3:c.3354A>G, XM_011534194.2:c.3354A>G, XM_011534194.1:c.3354A>G, XM_017007371.3:c.3345A>G, XM_017007371.2:c.3345A>G, XM_017007371.1:c.3345A>G, XM_011534195.3:c.3327A>G, XM_011534195.2:c.3327A>G, XM_011534195.1:c.3327A>G, XM_011534196.3:c.3324A>G, XM_011534196.2:c.3324A>G, XM_011534196.1:c.3324A>G, XM_017007374.3:c.3333A>G, XM_017007374.2:c.3333A>G, XM_017007374.1:c.3333A>G, XM_017007376.3:c.3327A>G, XM_017007376.2:c.3327A>G, XM_017007376.1:c.3327A>G, XM_011534203.3:c.3324A>G, XM_011534203.2:c.3324A>G, XM_011534203.1:c.3324A>G, XM_017007377.3:c.3321A>G, XM_017007377.2:c.3321A>G, XM_017007377.1:c.3321A>G, XM_011534197.3:c.3315A>G, XM_011534197.2:c.3315A>G, XM_011534197.1:c.3315A>G, XM_017007383.3:c.3237A>G, XM_017007383.2:c.3237A>G, XM_017007383.1:c.3237A>G, XM_017007386.3:c.3186A>G, XM_017007386.2:c.3186A>G, XM_017007386.1:c.3186A>G, XM_011534199.3:c.3156A>G, XM_011534199.2:c.3156A>G, XM_011534199.1:c.3156A>G, XM_024453799.2:c.3414A>G, XM_024453799.1:c.3414A>G, XM_017007368.2:c.3372A>G, XM_017007368.1:c.3372A>G, XM_017007378.2:c.3303A>G, XM_017007378.1:c.3303A>G, XM_047449093.1:c.3573A>G, XM_047449094.1:c.3564A>G, XM_047449095.1:c.3573A>G, XM_047449096.1:c.3552A>G, XM_047449097.1:c.3543A>G, XM_047449098.1:c.3522A>G, XM_047449099.1:c.3504A>G, XM_047449100.1:c.3405A>G, XM_047449101.1:c.3405A>G, XM_047449102.1:c.3402A>G, XM_047449103.1:c.3390A>G, XM_047449109.1:c.3381A>G, XM_047449105.1:c.3315A>G, XM_047449106.1:c.3255A>G, XM_047449107.1:c.3243A>G, XM_047449108.1:c.3177A>G

                                    18.

                                    rs1474591316 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      3:62592748 (GRCh38)
                                      3:62578423 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:62592747:G:C
                                      Gene:
                                      CADPS (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.0005/1 (Korea1K)
                                      HGVS:
                                      NC_000003.12:g.62592748G>C, NC_000003.11:g.62578423G>C, NG_047093.1:g.287642C>G, NM_003716.4:c.1326C>G, NM_003716.3:c.1326C>G, NM_183394.3:c.1326C>G, NM_183394.2:c.1326C>G, NM_183393.3:c.1326C>G, NM_183393.2:c.1326C>G, XM_011534191.4:c.1326C>G, XM_011534191.3:c.1326C>G, XM_011534191.2:c.1326C>G, XM_011534191.1:c.1326C>G, XM_011534198.4:c.1326C>G, XM_011534198.3:c.1326C>G, XM_011534198.2:c.1326C>G, XM_011534198.1:c.1326C>G, XM_006713378.4:c.1326C>G, XM_006713378.3:c.1326C>G, XM_006713378.2:c.1326C>G, XM_006713378.1:c.816C>G, XM_011534200.4:c.1326C>G, XM_011534200.3:c.1326C>G, XM_011534200.2:c.1326C>G, XM_011534200.1:c.1326C>G, XM_011534202.4:c.1326C>G, XM_011534202.3:c.1326C>G, XM_011534202.2:c.1326C>G, XM_011534202.1:c.1326C>G, XM_011534177.3:c.1326C>G, XM_011534177.2:c.1326C>G, XM_011534177.1:c.1326C>G, XM_017007360.3:c.1326C>G, XM_017007360.2:c.1326C>G, XM_017007360.1:c.1326C>G, XM_011534178.3:c.1326C>G, XM_011534178.2:c.1326C>G, XM_011534178.1:c.1326C>G, XM_011534180.3:c.1326C>G, XM_011534180.2:c.1326C>G, XM_011534180.1:c.1326C>G, XM_011534182.3:c.1326C>G, XM_011534182.2:c.1326C>G, XM_011534182.1:c.1326C>G, XM_017007363.3:c.1326C>G, XM_017007363.2:c.1326C>G, XM_017007363.1:c.1326C>G, XM_011534183.3:c.1326C>G, XM_011534183.2:c.1326C>G, XM_011534183.1:c.1326C>G, XM_017007364.3:c.1326C>G, XM_017007364.2:c.1326C>G, XM_017007364.1:c.1326C>G, XM_011534189.3:c.1326C>G, XM_011534189.2:c.1326C>G, XM_011534189.1:c.1326C>G, XM_017007366.3:c.1326C>G, XM_017007366.2:c.1326C>G, XM_017007366.1:c.1326C>G, XM_011534192.3:c.1326C>G, XM_011534192.2:c.1326C>G, XM_011534192.1:c.1326C>G, XM_011534193.3:c.1326C>G, XM_011534193.2:c.1326C>G, XM_011534193.1:c.1326C>G, XM_011534194.3:c.1326C>G, XM_011534194.2:c.1326C>G, XM_011534194.1:c.1326C>G, XM_017007371.3:c.1326C>G, XM_017007371.2:c.1326C>G, XM_017007371.1:c.1326C>G, XM_011534195.3:c.1326C>G, XM_011534195.2:c.1326C>G, XM_011534195.1:c.1326C>G, XM_011534196.3:c.1326C>G, XM_011534196.2:c.1326C>G, XM_011534196.1:c.1326C>G, XM_017007374.3:c.1326C>G, XM_017007374.2:c.1326C>G, XM_017007374.1:c.1326C>G, XM_017007376.3:c.1326C>G, XM_017007376.2:c.1326C>G, XM_017007376.1:c.1326C>G, XM_011534203.3:c.1326C>G, XM_011534203.2:c.1326C>G, XM_011534203.1:c.1326C>G, XM_017007377.3:c.1326C>G, XM_017007377.2:c.1326C>G, XM_017007377.1:c.1326C>G, XM_011534197.3:c.1326C>G, XM_011534197.2:c.1326C>G, XM_011534197.1:c.1326C>G, XM_017007383.3:c.1326C>G, XM_017007383.2:c.1326C>G, XM_017007383.1:c.1326C>G, XM_017007386.3:c.1326C>G, XM_017007386.2:c.1326C>G, XM_017007386.1:c.1326C>G, XM_011534199.3:c.1326C>G, XM_011534199.2:c.1326C>G, XM_011534199.1:c.1326C>G, XM_024453799.2:c.1326C>G, XM_024453799.1:c.1326C>G, XM_017007368.2:c.1326C>G, XM_017007368.1:c.1326C>G, XM_017007378.2:c.1326C>G, XM_017007378.1:c.1326C>G, XM_047449093.1:c.1326C>G, XM_047449094.1:c.1326C>G, XM_047449095.1:c.1326C>G, XM_047449096.1:c.1326C>G, XM_047449097.1:c.1326C>G, XM_047449098.1:c.1326C>G, XM_047449099.1:c.1326C>G, XM_047449100.1:c.1326C>G, XM_047449101.1:c.1326C>G, XM_047449102.1:c.1326C>G, XM_047449103.1:c.1326C>G, XM_047449109.1:c.1326C>G, XM_047449105.1:c.1326C>G, XM_047449106.1:c.1326C>G, XM_047449107.1:c.1326C>G, XM_047449108.1:c.1326C>G

                                      19.

                                      rs1474042644 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CGCCGCCCCCCAGCCCGGCGC>- [Show Flanks]
                                        Chromosome:
                                        3:62874876 (GRCh38)
                                        3:62860551 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:62874868:CCGGCGCCGCCGCCCCCCAGCCCGGCGC:CCGGCGC
                                        Gene:
                                        CADPS (Varview)
                                        Functional Consequence:
                                        inframe_deletion,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CCGGCGC=0./0 (ALFA)
                                        -=0.000026/7 (TOPMED)
                                        -=0.000052/7 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.62874876_62874896del, NC_000003.11:g.62860551_62860571del, NG_047093.1:g.5501_5521del, NM_003716.4:c.141_161del, NM_003716.3:c.141_161del, NM_183394.3:c.141_161del, NM_183394.2:c.141_161del, NM_183393.3:c.141_161del, NM_183393.2:c.141_161del, XM_011534191.4:c.141_161del, XM_011534191.3:c.141_161del, XM_011534191.2:c.141_161del, XM_011534191.1:c.141_161del, XM_011534198.4:c.141_161del, XM_011534198.3:c.141_161del, XM_011534198.2:c.141_161del, XM_011534198.1:c.141_161del, XM_006713378.4:c.141_161del, XM_006713378.3:c.141_161del, XM_006713378.2:c.141_161del, XM_011534200.4:c.141_161del, XM_011534200.3:c.141_161del, XM_011534200.2:c.141_161del, XM_011534200.1:c.141_161del, XM_011534202.4:c.141_161del, XM_011534202.3:c.141_161del, XM_011534202.2:c.141_161del, XM_011534202.1:c.141_161del, XM_011534177.3:c.141_161del, XM_011534177.2:c.141_161del, XM_011534177.1:c.141_161del, XM_017007360.3:c.141_161del, XM_017007360.2:c.141_161del, XM_017007360.1:c.141_161del, XM_011534178.3:c.141_161del, XM_011534178.2:c.141_161del, XM_011534178.1:c.141_161del, XM_011534180.3:c.141_161del, XM_011534180.2:c.141_161del, XM_011534180.1:c.141_161del, XM_011534182.3:c.141_161del, XM_011534182.2:c.141_161del, XM_011534182.1:c.141_161del, XM_017007363.3:c.141_161del, XM_017007363.2:c.141_161del, XM_017007363.1:c.141_161del, XM_011534183.3:c.141_161del, XM_011534183.2:c.141_161del, XM_011534183.1:c.141_161del, XM_017007364.3:c.141_161del, XM_017007364.2:c.141_161del, XM_017007364.1:c.141_161del, XM_011534189.3:c.141_161del, XM_011534189.2:c.141_161del, XM_011534189.1:c.141_161del, XM_017007366.3:c.141_161del, XM_017007366.2:c.141_161del, XM_017007366.1:c.141_161del, XM_011534192.3:c.141_161del, XM_011534192.2:c.141_161del, XM_011534192.1:c.141_161del, XM_011534193.3:c.141_161del, XM_011534193.2:c.141_161del, XM_011534193.1:c.141_161del, XM_011534194.3:c.141_161del, XM_011534194.2:c.141_161del, XM_011534194.1:c.141_161del, XM_017007371.3:c.141_161del, XM_017007371.2:c.141_161del, XM_017007371.1:c.141_161del, XM_011534195.3:c.141_161del, XM_011534195.2:c.141_161del, XM_011534195.1:c.141_161del, XM_011534196.3:c.141_161del, XM_011534196.2:c.141_161del, XM_011534196.1:c.141_161del, XM_017007374.3:c.141_161del, XM_017007374.2:c.141_161del, XM_017007374.1:c.141_161del, XM_017007376.3:c.141_161del, XM_017007376.2:c.141_161del, XM_017007376.1:c.141_161del, XM_011534203.3:c.141_161del, XM_011534203.2:c.141_161del, XM_011534203.1:c.141_161del, XM_017007377.3:c.141_161del, XM_017007377.2:c.141_161del, XM_017007377.1:c.141_161del, XM_011534197.3:c.141_161del, XM_011534197.2:c.141_161del, XM_011534197.1:c.141_161del, XM_017007383.3:c.141_161del, XM_017007383.2:c.141_161del, XM_017007383.1:c.141_161del, XM_017007386.3:c.141_161del, XM_017007386.2:c.141_161del, XM_017007386.1:c.141_161del, XM_011534199.3:c.141_161del, XM_011534199.2:c.141_161del, XM_011534199.1:c.141_161del, XM_024453799.2:c.141_161del, XM_024453799.1:c.141_161del, XM_017007368.2:c.141_161del, XM_017007368.1:c.141_161del, XM_017007378.2:c.141_161del, XM_017007378.1:c.141_161del, XM_047449093.1:c.141_161del, XM_047449094.1:c.141_161del, XM_047449095.1:c.141_161del, XM_047449096.1:c.141_161del, XM_047449097.1:c.141_161del, XM_047449098.1:c.141_161del, XM_047449099.1:c.141_161del, XM_047449100.1:c.141_161del, XM_047449101.1:c.141_161del, XM_047449102.1:c.141_161del, XM_047449103.1:c.141_161del, XM_047449109.1:c.141_161del, XM_047449105.1:c.141_161del, XM_047449106.1:c.141_161del, XM_047449107.1:c.141_161del, XM_047449108.1:c.141_161del, NP_003707.2:p.Leu48_Gly54del, NP_899631.1:p.Leu48_Gly54del, NP_899630.1:p.Leu48_Gly54del, XP_011532493.1:p.Leu48_Gly54del, XP_011532500.1:p.Leu48_Gly54del, XP_006713441.2:p.Leu48_Gly54del, XP_011532502.1:p.Leu48_Gly54del, XP_011532504.1:p.Leu48_Gly54del, XP_011532479.1:p.Leu48_Gly54del, XP_016862849.1:p.Leu48_Gly54del, XP_011532480.1:p.Leu48_Gly54del, XP_011532482.1:p.Leu48_Gly54del, XP_011532484.1:p.Leu48_Gly54del, XP_016862852.1:p.Leu48_Gly54del, XP_011532485.1:p.Leu48_Gly54del, XP_016862853.1:p.Leu48_Gly54del, XP_011532491.1:p.Leu48_Gly54del, XP_016862855.1:p.Leu48_Gly54del, XP_011532494.1:p.Leu48_Gly54del, XP_011532495.1:p.Leu48_Gly54del, XP_011532496.1:p.Leu48_Gly54del, XP_016862860.1:p.Leu48_Gly54del, XP_011532497.1:p.Leu48_Gly54del, XP_011532498.1:p.Leu48_Gly54del, XP_016862863.1:p.Leu48_Gly54del, XP_016862865.1:p.Leu48_Gly54del, XP_011532505.1:p.Leu48_Gly54del, XP_016862866.1:p.Leu48_Gly54del, XP_011532499.1:p.Leu48_Gly54del, XP_016862872.1:p.Leu48_Gly54del, XP_016862875.1:p.Leu48_Gly54del, XP_011532501.1:p.Leu48_Gly54del, XP_024309567.1:p.Leu48_Gly54del, XP_016862857.1:p.Leu48_Gly54del, XP_016862867.1:p.Leu48_Gly54del, XP_047305049.1:p.Leu48_Gly54del, XP_047305050.1:p.Leu48_Gly54del, XP_047305051.1:p.Leu48_Gly54del, XP_047305052.1:p.Leu48_Gly54del, XP_047305053.1:p.Leu48_Gly54del, XP_047305054.1:p.Leu48_Gly54del, XP_047305055.1:p.Leu48_Gly54del, XP_047305056.1:p.Leu48_Gly54del, XP_047305057.1:p.Leu48_Gly54del, XP_047305058.1:p.Leu48_Gly54del, XP_047305059.1:p.Leu48_Gly54del, XP_047305065.1:p.Leu48_Gly54del, XP_047305061.1:p.Leu48_Gly54del, XP_047305062.1:p.Leu48_Gly54del, XP_047305063.1:p.Leu48_Gly54del, XP_047305064.1:p.Leu48_Gly54del

                                        20.

                                        rs1473951313 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:62585229 (GRCh38)
                                          3:62570904 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:62585228:T:C
                                          Gene:
                                          CADPS (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.62585229T>C, NC_000003.11:g.62570904T>C, NG_047093.1:g.295161A>G, NM_003716.4:c.1533A>G, NM_003716.3:c.1533A>G, NM_183394.3:c.1533A>G, NM_183394.2:c.1533A>G, NM_183393.3:c.1533A>G, NM_183393.2:c.1533A>G, XM_011534191.4:c.1533A>G, XM_011534191.3:c.1533A>G, XM_011534191.2:c.1533A>G, XM_011534191.1:c.1533A>G, XM_011534198.4:c.1533A>G, XM_011534198.3:c.1533A>G, XM_011534198.2:c.1533A>G, XM_011534198.1:c.1533A>G, XM_006713378.4:c.1533A>G, XM_006713378.3:c.1533A>G, XM_006713378.2:c.1533A>G, XM_006713378.1:c.1023A>G, XM_011534200.4:c.1533A>G, XM_011534200.3:c.1533A>G, XM_011534200.2:c.1533A>G, XM_011534200.1:c.1533A>G, XM_011534202.4:c.1533A>G, XM_011534202.3:c.1533A>G, XM_011534202.2:c.1533A>G, XM_011534202.1:c.1533A>G, XM_011534177.3:c.1533A>G, XM_011534177.2:c.1533A>G, XM_011534177.1:c.1533A>G, XM_017007360.3:c.1533A>G, XM_017007360.2:c.1533A>G, XM_017007360.1:c.1533A>G, XM_011534178.3:c.1533A>G, XM_011534178.2:c.1533A>G, XM_011534178.1:c.1533A>G, XM_011534180.3:c.1533A>G, XM_011534180.2:c.1533A>G, XM_011534180.1:c.1533A>G, XM_011534182.3:c.1533A>G, XM_011534182.2:c.1533A>G, XM_011534182.1:c.1533A>G, XM_017007363.3:c.1533A>G, XM_017007363.2:c.1533A>G, XM_017007363.1:c.1533A>G, XM_011534183.3:c.1533A>G, XM_011534183.2:c.1533A>G, XM_011534183.1:c.1533A>G, XM_017007364.3:c.1533A>G, XM_017007364.2:c.1533A>G, XM_017007364.1:c.1533A>G, XM_011534189.3:c.1533A>G, XM_011534189.2:c.1533A>G, XM_011534189.1:c.1533A>G, XM_017007366.3:c.1533A>G, XM_017007366.2:c.1533A>G, XM_017007366.1:c.1533A>G, XM_011534192.3:c.1533A>G, XM_011534192.2:c.1533A>G, XM_011534192.1:c.1533A>G, XM_011534193.3:c.1533A>G, XM_011534193.2:c.1533A>G, XM_011534193.1:c.1533A>G, XM_011534194.3:c.1533A>G, XM_011534194.2:c.1533A>G, XM_011534194.1:c.1533A>G, XM_017007371.3:c.1533A>G, XM_017007371.2:c.1533A>G, XM_017007371.1:c.1533A>G, XM_011534195.3:c.1533A>G, XM_011534195.2:c.1533A>G, XM_011534195.1:c.1533A>G, XM_011534196.3:c.1533A>G, XM_011534196.2:c.1533A>G, XM_011534196.1:c.1533A>G, XM_017007374.3:c.1533A>G, XM_017007374.2:c.1533A>G, XM_017007374.1:c.1533A>G, XM_017007376.3:c.1533A>G, XM_017007376.2:c.1533A>G, XM_017007376.1:c.1533A>G, XM_011534203.3:c.1533A>G, XM_011534203.2:c.1533A>G, XM_011534203.1:c.1533A>G, XM_017007377.3:c.1533A>G, XM_017007377.2:c.1533A>G, XM_017007377.1:c.1533A>G, XM_011534197.3:c.1533A>G, XM_011534197.2:c.1533A>G, XM_011534197.1:c.1533A>G, XM_017007383.3:c.1533A>G, XM_017007383.2:c.1533A>G, XM_017007383.1:c.1533A>G, XM_017007386.3:c.1533A>G, XM_017007386.2:c.1533A>G, XM_017007386.1:c.1533A>G, XM_011534199.3:c.1533A>G, XM_011534199.2:c.1533A>G, XM_011534199.1:c.1533A>G, XM_024453799.2:c.1533A>G, XM_024453799.1:c.1533A>G, XM_017007368.2:c.1533A>G, XM_017007368.1:c.1533A>G, XM_017007378.2:c.1533A>G, XM_017007378.1:c.1533A>G, XM_047449093.1:c.1533A>G, XM_047449094.1:c.1533A>G, XM_047449095.1:c.1533A>G, XM_047449096.1:c.1533A>G, XM_047449097.1:c.1533A>G, XM_047449098.1:c.1533A>G, XM_047449099.1:c.1533A>G, XM_047449100.1:c.1533A>G, XM_047449101.1:c.1533A>G, XM_047449102.1:c.1533A>G, XM_047449103.1:c.1533A>G, XM_047449109.1:c.1533A>G, XM_047449105.1:c.1533A>G, XM_047449106.1:c.1533A>G, XM_047449107.1:c.1533A>G, XM_047449108.1:c.1533A>G

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