U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 719

1.

rs1490818237 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    5:19473524 (GRCh38)
    5:19473633 (GRCh37)
    Canonical SPDI:
    NC_000005.10:19473523:C:A
    Gene:
    CDH18 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.19473524C>A, NC_000005.9:g.19473633C>A, XM_005248228.5:c.2075G>T, XM_005248228.4:c.2075G>T, XM_005248228.3:c.2075G>T, XM_005248228.2:c.2075G>T, XM_005248228.1:c.2075G>T, NM_004934.5:c.2075G>T, NM_004934.4:c.2075G>T, NM_004934.3:c.2075G>T, XM_006714435.5:c.2075G>T, XM_006714435.4:c.2075G>T, XM_006714435.3:c.2075G>T, XM_006714435.2:c.2075G>T, XM_006714435.1:c.2075G>T, XM_017008928.3:c.2075G>T, XM_017008928.2:c.2075G>T, XM_017008928.1:c.2075G>T, NM_001291956.3:c.2075G>T, NM_001291956.2:c.2075G>T, NM_001291956.1:c.2075G>T, XM_017008926.3:c.2075G>T, XM_017008926.2:c.2075G>T, XM_017008926.1:c.2075G>T, XM_017008924.3:c.2075G>T, XM_017008924.2:c.2075G>T, XM_017008924.1:c.2075G>T, XM_017008927.3:c.2075G>T, XM_017008927.2:c.2075G>T, XM_017008927.1:c.2075G>T, XM_017008929.3:c.2075G>T, XM_017008929.2:c.2075G>T, XM_017008929.1:c.2075G>T, NM_001167667.3:c.*241G>T, NM_001167667.2:c.*241G>T, NM_001167667.1:c.*241G>T, XM_017008930.3:c.2075G>T, XM_017008930.2:c.2075G>T, XM_017008930.1:c.2075G>T, NM_001349558.2:c.2075G>T, NM_001349558.1:c.2075G>T, NM_001349556.2:c.2075G>T, NM_001349556.1:c.2075G>T, NM_001349562.2:c.1406G>T, NM_001349562.1:c.1406G>T, NM_001349563.2:c.1406G>T, NM_001349563.1:c.1406G>T, NM_001349559.2:c.2075G>T, NM_001349559.1:c.2075G>T, NM_001291957.2:c.*241G>T, NM_001291957.1:c.*241G>T, NM_001349560.2:c.*241G>T, NM_001349560.1:c.*241G>T, NM_001349561.2:c.*241G>T, NM_001349561.1:c.*241G>T, XP_005248285.1:p.Arg692Ile, NP_004925.1:p.Arg692Ile, XP_006714498.1:p.Arg692Ile, XP_016864417.1:p.Arg692Ile, NP_001278885.1:p.Arg692Ile, XP_016864415.1:p.Arg692Ile, XP_016864413.1:p.Arg692Ile, XP_016864416.1:p.Arg692Ile, XP_016864418.1:p.Arg692Ile, XP_016864419.1:p.Arg692Ile, NP_001336487.1:p.Arg692Ile, NP_001336485.1:p.Arg692Ile, NP_001336491.1:p.Arg469Ile, NP_001336492.1:p.Arg469Ile, NP_001336488.1:p.Arg692Ile

    2.

    rs1490412219 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      5:19747092 (GRCh38)
      5:19747201 (GRCh37)
      Canonical SPDI:
      NC_000005.10:19747091:C:A
      Gene:
      CDH18 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,missense_variant,coding_sequence_variant
      HGVS:
      NC_000005.10:g.19747092C>A, NC_000005.9:g.19747201C>A, XM_005248228.5:c.373G>T, XM_005248228.4:c.373G>T, XM_005248228.3:c.373G>T, XM_005248228.2:c.373G>T, XM_005248228.1:c.373G>T, NM_004934.5:c.373G>T, NM_004934.4:c.373G>T, NM_004934.3:c.373G>T, XM_006714435.5:c.373G>T, XM_006714435.4:c.373G>T, XM_006714435.3:c.373G>T, XM_006714435.2:c.373G>T, XM_006714435.1:c.373G>T, XM_011513930.4:c.373G>T, XM_011513930.3:c.373G>T, XM_011513930.2:c.373G>T, XM_011513930.1:c.373G>T, XM_017008928.3:c.373G>T, XM_017008928.2:c.373G>T, XM_017008928.1:c.373G>T, NM_001291956.3:c.373G>T, NM_001291956.2:c.373G>T, NM_001291956.1:c.373G>T, XM_017008926.3:c.373G>T, XM_017008926.2:c.373G>T, XM_017008926.1:c.373G>T, XM_017008924.3:c.373G>T, XM_017008924.2:c.373G>T, XM_017008924.1:c.373G>T, XM_017008927.3:c.373G>T, XM_017008927.2:c.373G>T, XM_017008927.1:c.373G>T, XM_017008929.3:c.373G>T, XM_017008929.2:c.373G>T, XM_017008929.1:c.373G>T, NM_001167667.3:c.373G>T, NM_001167667.2:c.373G>T, NM_001167667.1:c.373G>T, XM_017008930.3:c.373G>T, XM_017008930.2:c.373G>T, XM_017008930.1:c.373G>T, NM_001349558.2:c.373G>T, NM_001349558.1:c.373G>T, NM_001349556.2:c.373G>T, NM_001349556.1:c.373G>T, NM_001349562.2:c.-386G>T, NM_001349562.1:c.-386G>T, NM_001349563.2:c.-386G>T, NM_001349563.1:c.-386G>T, NM_001349559.2:c.373G>T, NM_001349559.1:c.373G>T, NM_001291957.2:c.373G>T, NM_001291957.1:c.373G>T, NM_001349560.2:c.373G>T, NM_001349560.1:c.373G>T, NM_001349561.2:c.373G>T, NM_001349561.1:c.373G>T, XP_005248285.1:p.Val125Leu, NP_004925.1:p.Val125Leu, XP_006714498.1:p.Val125Leu, XP_011512232.1:p.Val125Leu, XP_016864417.1:p.Val125Leu, NP_001278885.1:p.Val125Leu, XP_016864415.1:p.Val125Leu, XP_016864413.1:p.Val125Leu, XP_016864416.1:p.Val125Leu, XP_016864418.1:p.Val125Leu, NP_001161139.1:p.Val125Leu, XP_016864419.1:p.Val125Leu, NP_001336487.1:p.Val125Leu, NP_001336485.1:p.Val125Leu, NP_001336488.1:p.Val125Leu, NP_001278886.1:p.Val125Leu, NP_001336489.1:p.Val125Leu, NP_001336490.1:p.Val125Leu

      3.

      rs1490327837 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        5:19483310 (GRCh38)
        5:19483419 (GRCh37)
        Canonical SPDI:
        NC_000005.10:19483309:T:G
        Gene:
        CDH18 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000005.10:g.19483310T>G, NC_000005.9:g.19483419T>G, XM_005248228.5:c.1873A>C, XM_005248228.4:c.1873A>C, XM_005248228.3:c.1873A>C, XM_005248228.2:c.1873A>C, XM_005248228.1:c.1873A>C, NM_004934.5:c.1873A>C, NM_004934.4:c.1873A>C, NM_004934.3:c.1873A>C, XM_006714435.5:c.1873A>C, XM_006714435.4:c.1873A>C, XM_006714435.3:c.1873A>C, XM_006714435.2:c.1873A>C, XM_006714435.1:c.1873A>C, XM_011513930.4:c.*39A>C, XM_011513930.3:c.*39A>C, XM_011513930.2:c.*39A>C, XM_011513930.1:c.*39A>C, XM_017008928.3:c.1873A>C, XM_017008928.2:c.1873A>C, XM_017008928.1:c.1873A>C, NM_001291956.3:c.1873A>C, NM_001291956.2:c.1873A>C, NM_001291956.1:c.1873A>C, XM_017008926.3:c.1873A>C, XM_017008926.2:c.1873A>C, XM_017008926.1:c.1873A>C, XM_017008924.3:c.1873A>C, XM_017008924.2:c.1873A>C, XM_017008924.1:c.1873A>C, XM_017008927.3:c.1873A>C, XM_017008927.2:c.1873A>C, XM_017008927.1:c.1873A>C, XM_017008929.3:c.1873A>C, XM_017008929.2:c.1873A>C, XM_017008929.1:c.1873A>C, NM_001167667.3:c.*39A>C, NM_001167667.2:c.*39A>C, NM_001167667.1:c.*39A>C, XM_017008930.3:c.1873A>C, XM_017008930.2:c.1873A>C, XM_017008930.1:c.1873A>C, NM_001349558.2:c.1873A>C, NM_001349558.1:c.1873A>C, NM_001349556.2:c.1873A>C, NM_001349556.1:c.1873A>C, NM_001349562.2:c.1204A>C, NM_001349562.1:c.1204A>C, NM_001349563.2:c.1204A>C, NM_001349563.1:c.1204A>C, NM_001349559.2:c.1873A>C, NM_001349559.1:c.1873A>C, NM_001291957.2:c.*39A>C, NM_001291957.1:c.*39A>C, NM_001349560.2:c.*39A>C, NM_001349560.1:c.*39A>C, NM_001349561.2:c.*39A>C, NM_001349561.1:c.*39A>C, XP_005248285.1:p.Ile625Leu, NP_004925.1:p.Ile625Leu, XP_006714498.1:p.Ile625Leu, XP_016864417.1:p.Ile625Leu, NP_001278885.1:p.Ile625Leu, XP_016864415.1:p.Ile625Leu, XP_016864413.1:p.Ile625Leu, XP_016864416.1:p.Ile625Leu, XP_016864418.1:p.Ile625Leu, XP_016864419.1:p.Ile625Leu, NP_001336487.1:p.Ile625Leu, NP_001336485.1:p.Ile625Leu, NP_001336491.1:p.Ile402Leu, NP_001336492.1:p.Ile402Leu, NP_001336488.1:p.Ile625Leu

        4.

        rs1489399653 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          5:19483389 (GRCh38)
          5:19483498 (GRCh37)
          Canonical SPDI:
          NC_000005.10:19483388:C:A,NC_000005.10:19483388:C:T
          Gene:
          CDH18 (Varview)
          Functional Consequence:
          synonymous_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00003/1 (ALFA)
          HGVS:
          NC_000005.10:g.19483389C>A, NC_000005.10:g.19483389C>T, NC_000005.9:g.19483498C>A, NC_000005.9:g.19483498C>T, XM_005248228.5:c.1794G>T, XM_005248228.5:c.1794G>A, XM_005248228.4:c.1794G>T, XM_005248228.4:c.1794G>A, XM_005248228.3:c.1794G>T, XM_005248228.3:c.1794G>A, XM_005248228.2:c.1794G>T, XM_005248228.2:c.1794G>A, XM_005248228.1:c.1794G>T, XM_005248228.1:c.1794G>A, NM_004934.5:c.1794G>T, NM_004934.5:c.1794G>A, NM_004934.4:c.1794G>T, NM_004934.4:c.1794G>A, NM_004934.3:c.1794G>T, NM_004934.3:c.1794G>A, XM_006714435.5:c.1794G>T, XM_006714435.5:c.1794G>A, XM_006714435.4:c.1794G>T, XM_006714435.4:c.1794G>A, XM_006714435.3:c.1794G>T, XM_006714435.3:c.1794G>A, XM_006714435.2:c.1794G>T, XM_006714435.2:c.1794G>A, XM_006714435.1:c.1794G>T, XM_006714435.1:c.1794G>A, XM_011513930.4:c.1688G>T, XM_011513930.4:c.1688G>A, XM_011513930.3:c.1688G>T, XM_011513930.3:c.1688G>A, XM_011513930.2:c.1688G>T, XM_011513930.2:c.1688G>A, XM_011513930.1:c.1688G>T, XM_011513930.1:c.1688G>A, XM_017008928.3:c.1794G>T, XM_017008928.3:c.1794G>A, XM_017008928.2:c.1794G>T, XM_017008928.2:c.1794G>A, XM_017008928.1:c.1794G>T, XM_017008928.1:c.1794G>A, NM_001291956.3:c.1794G>T, NM_001291956.3:c.1794G>A, NM_001291956.2:c.1794G>T, NM_001291956.2:c.1794G>A, NM_001291956.1:c.1794G>T, NM_001291956.1:c.1794G>A, XM_017008926.3:c.1794G>T, XM_017008926.3:c.1794G>A, XM_017008926.2:c.1794G>T, XM_017008926.2:c.1794G>A, XM_017008926.1:c.1794G>T, XM_017008926.1:c.1794G>A, XM_017008924.3:c.1794G>T, XM_017008924.3:c.1794G>A, XM_017008924.2:c.1794G>T, XM_017008924.2:c.1794G>A, XM_017008924.1:c.1794G>T, XM_017008924.1:c.1794G>A, XM_017008927.3:c.1794G>T, XM_017008927.3:c.1794G>A, XM_017008927.2:c.1794G>T, XM_017008927.2:c.1794G>A, XM_017008927.1:c.1794G>T, XM_017008927.1:c.1794G>A, XM_017008929.3:c.1794G>T, XM_017008929.3:c.1794G>A, XM_017008929.2:c.1794G>T, XM_017008929.2:c.1794G>A, XM_017008929.1:c.1794G>T, XM_017008929.1:c.1794G>A, NM_001167667.3:c.1685G>T, NM_001167667.3:c.1685G>A, NM_001167667.2:c.1685G>T, NM_001167667.2:c.1685G>A, NM_001167667.1:c.1685G>T, NM_001167667.1:c.1685G>A, XM_017008930.3:c.1794G>T, XM_017008930.3:c.1794G>A, XM_017008930.2:c.1794G>T, XM_017008930.2:c.1794G>A, XM_017008930.1:c.1794G>T, XM_017008930.1:c.1794G>A, NM_001349558.2:c.1794G>T, NM_001349558.2:c.1794G>A, NM_001349558.1:c.1794G>T, NM_001349558.1:c.1794G>A, NM_001349556.2:c.1794G>T, NM_001349556.2:c.1794G>A, NM_001349556.1:c.1794G>T, NM_001349556.1:c.1794G>A, NM_001349562.2:c.1125G>T, NM_001349562.2:c.1125G>A, NM_001349562.1:c.1125G>T, NM_001349562.1:c.1125G>A, NM_001349563.2:c.1125G>T, NM_001349563.2:c.1125G>A, NM_001349563.1:c.1125G>T, NM_001349563.1:c.1125G>A, NM_001349559.2:c.1794G>T, NM_001349559.2:c.1794G>A, NM_001349559.1:c.1794G>T, NM_001349559.1:c.1794G>A, NM_001291957.2:c.1688G>T, NM_001291957.2:c.1688G>A, NM_001291957.1:c.1688G>T, NM_001291957.1:c.1688G>A, NM_001349560.2:c.1688G>T, NM_001349560.2:c.1688G>A, NM_001349560.1:c.1688G>T, NM_001349560.1:c.1688G>A, NM_001349561.2:c.1685G>T, NM_001349561.2:c.1685G>A, NM_001349561.1:c.1685G>T, NM_001349561.1:c.1685G>A, XP_011512232.1:p.Gly563Val, XP_011512232.1:p.Gly563Glu, NP_001161139.1:p.Gly562Val, NP_001161139.1:p.Gly562Glu, NP_001278886.1:p.Gly563Val, NP_001278886.1:p.Gly563Glu, NP_001336489.1:p.Gly563Val, NP_001336489.1:p.Gly563Glu, NP_001336490.1:p.Gly562Val, NP_001336490.1:p.Gly562Glu

          5.

          rs1488890347 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            5:19473398 (GRCh38)
            5:19473507 (GRCh37)
            Canonical SPDI:
            NC_000005.10:19473397:G:C
            Gene:
            CDH18 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000066/1 (ALFA)
            C=0.000014/2 (GnomAD)
            C=0.000446/2 (Estonian)
            HGVS:
            NC_000005.10:g.19473398G>C, NC_000005.9:g.19473507G>C, XM_005248228.5:c.2201C>G, XM_005248228.4:c.2201C>G, XM_005248228.3:c.2201C>G, XM_005248228.2:c.2201C>G, XM_005248228.1:c.2201C>G, NM_004934.5:c.2201C>G, NM_004934.4:c.2201C>G, NM_004934.3:c.2201C>G, XM_006714435.5:c.2201C>G, XM_006714435.4:c.2201C>G, XM_006714435.3:c.2201C>G, XM_006714435.2:c.2201C>G, XM_006714435.1:c.2201C>G, XM_017008928.3:c.2201C>G, XM_017008928.2:c.2201C>G, XM_017008928.1:c.2201C>G, NM_001291956.3:c.2201C>G, NM_001291956.2:c.2201C>G, NM_001291956.1:c.2201C>G, XM_017008926.3:c.2201C>G, XM_017008926.2:c.2201C>G, XM_017008926.1:c.2201C>G, XM_017008924.3:c.2201C>G, XM_017008924.2:c.2201C>G, XM_017008924.1:c.2201C>G, XM_017008927.3:c.2201C>G, XM_017008927.2:c.2201C>G, XM_017008927.1:c.2201C>G, XM_017008929.3:c.2201C>G, XM_017008929.2:c.2201C>G, XM_017008929.1:c.2201C>G, NM_001167667.3:c.*367C>G, NM_001167667.2:c.*367C>G, NM_001167667.1:c.*367C>G, XM_017008930.3:c.2201C>G, XM_017008930.2:c.2201C>G, XM_017008930.1:c.2201C>G, NM_001349558.2:c.2201C>G, NM_001349558.1:c.2201C>G, NM_001349556.2:c.2201C>G, NM_001349556.1:c.2201C>G, NM_001349562.2:c.1532C>G, NM_001349562.1:c.1532C>G, NM_001349563.2:c.1532C>G, NM_001349563.1:c.1532C>G, NM_001349559.2:c.2201C>G, NM_001349559.1:c.2201C>G, NM_001291957.2:c.*367C>G, NM_001291957.1:c.*367C>G, NM_001349560.2:c.*367C>G, NM_001349560.1:c.*367C>G, NM_001349561.2:c.*367C>G, NM_001349561.1:c.*367C>G, XP_005248285.1:p.Ser734Cys, NP_004925.1:p.Ser734Cys, XP_006714498.1:p.Ser734Cys, XP_016864417.1:p.Ser734Cys, NP_001278885.1:p.Ser734Cys, XP_016864415.1:p.Ser734Cys, XP_016864413.1:p.Ser734Cys, XP_016864416.1:p.Ser734Cys, XP_016864418.1:p.Ser734Cys, XP_016864419.1:p.Ser734Cys, NP_001336487.1:p.Ser734Cys, NP_001336485.1:p.Ser734Cys, NP_001336491.1:p.Ser511Cys, NP_001336492.1:p.Ser511Cys, NP_001336488.1:p.Ser734Cys

            6.

            rs1487079066 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:19473269 (GRCh38)
              5:19473378 (GRCh37)
              Canonical SPDI:
              NC_000005.10:19473268:A:G
              Gene:
              CDH18 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000005.10:g.19473269A>G, NC_000005.9:g.19473378A>G, XM_005248228.5:c.2330T>C, XM_005248228.4:c.2330T>C, XM_005248228.3:c.2330T>C, XM_005248228.2:c.2330T>C, XM_005248228.1:c.2330T>C, NM_004934.5:c.2330T>C, NM_004934.4:c.2330T>C, NM_004934.3:c.2330T>C, XM_006714435.5:c.2330T>C, XM_006714435.4:c.2330T>C, XM_006714435.3:c.2330T>C, XM_006714435.2:c.2330T>C, XM_006714435.1:c.2330T>C, XM_017008928.3:c.2330T>C, XM_017008928.2:c.2330T>C, XM_017008928.1:c.2330T>C, NM_001291956.3:c.2330T>C, NM_001291956.2:c.2330T>C, NM_001291956.1:c.2330T>C, XM_017008926.3:c.2330T>C, XM_017008926.2:c.2330T>C, XM_017008926.1:c.2330T>C, XM_017008924.3:c.2330T>C, XM_017008924.2:c.2330T>C, XM_017008924.1:c.2330T>C, XM_017008927.3:c.2330T>C, XM_017008927.2:c.2330T>C, XM_017008927.1:c.2330T>C, XM_017008929.3:c.2330T>C, XM_017008929.2:c.2330T>C, XM_017008929.1:c.2330T>C, NM_001167667.3:c.*496T>C, NM_001167667.2:c.*496T>C, NM_001167667.1:c.*496T>C, XM_017008930.3:c.2330T>C, XM_017008930.2:c.2330T>C, XM_017008930.1:c.2330T>C, NM_001349558.2:c.2330T>C, NM_001349558.1:c.2330T>C, NM_001349556.2:c.2330T>C, NM_001349556.1:c.2330T>C, NM_001349562.2:c.1661T>C, NM_001349562.1:c.1661T>C, NM_001349563.2:c.1661T>C, NM_001349563.1:c.1661T>C, NM_001349559.2:c.2330T>C, NM_001349559.1:c.2330T>C, NM_001291957.2:c.*496T>C, NM_001291957.1:c.*496T>C, NM_001349560.2:c.*496T>C, NM_001349560.1:c.*496T>C, NM_001349561.2:c.*496T>C, NM_001349561.1:c.*496T>C, XP_005248285.1:p.Leu777Ser, NP_004925.1:p.Leu777Ser, XP_006714498.1:p.Leu777Ser, XP_016864417.1:p.Leu777Ser, NP_001278885.1:p.Leu777Ser, XP_016864415.1:p.Leu777Ser, XP_016864413.1:p.Leu777Ser, XP_016864416.1:p.Leu777Ser, XP_016864418.1:p.Leu777Ser, XP_016864419.1:p.Leu777Ser, NP_001336487.1:p.Leu777Ser, NP_001336485.1:p.Leu777Ser, NP_001336491.1:p.Leu554Ser, NP_001336492.1:p.Leu554Ser, NP_001336488.1:p.Leu777Ser

              7.

              rs1486870265 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                5:19591152 (GRCh38)
                5:19591261 (GRCh37)
                Canonical SPDI:
                NC_000005.10:19591151:C:T
                Gene:
                CDH18 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                NC_000005.10:g.19591152C>T, NC_000005.9:g.19591261C>T, XM_005248228.5:c.904G>A, XM_005248228.4:c.904G>A, XM_005248228.3:c.904G>A, XM_005248228.2:c.904G>A, XM_005248228.1:c.904G>A, NM_004934.5:c.904G>A, NM_004934.4:c.904G>A, NM_004934.3:c.904G>A, XM_006714435.5:c.904G>A, XM_006714435.4:c.904G>A, XM_006714435.3:c.904G>A, XM_006714435.2:c.904G>A, XM_006714435.1:c.904G>A, XM_011513930.4:c.904G>A, XM_011513930.3:c.904G>A, XM_011513930.2:c.904G>A, XM_011513930.1:c.904G>A, XM_017008928.3:c.904G>A, XM_017008928.2:c.904G>A, XM_017008928.1:c.904G>A, NM_001291956.3:c.904G>A, NM_001291956.2:c.904G>A, NM_001291956.1:c.904G>A, XM_017008926.3:c.904G>A, XM_017008926.2:c.904G>A, XM_017008926.1:c.904G>A, XM_017008924.3:c.904G>A, XM_017008924.2:c.904G>A, XM_017008924.1:c.904G>A, XM_017008927.3:c.904G>A, XM_017008927.2:c.904G>A, XM_017008927.1:c.904G>A, XM_017008929.3:c.904G>A, XM_017008929.2:c.904G>A, XM_017008929.1:c.904G>A, NM_001167667.3:c.904G>A, NM_001167667.2:c.904G>A, NM_001167667.1:c.904G>A, XM_017008930.3:c.904G>A, XM_017008930.2:c.904G>A, XM_017008930.1:c.904G>A, NM_001349558.2:c.904G>A, NM_001349558.1:c.904G>A, NM_001349556.2:c.904G>A, NM_001349556.1:c.904G>A, NM_001349562.2:c.235G>A, NM_001349562.1:c.235G>A, NM_001349563.2:c.235G>A, NM_001349563.1:c.235G>A, NM_001349559.2:c.904G>A, NM_001349559.1:c.904G>A, NM_001291957.2:c.904G>A, NM_001291957.1:c.904G>A, NM_001349560.2:c.904G>A, NM_001349560.1:c.904G>A, NM_001349561.2:c.904G>A, NM_001349561.1:c.904G>A, XP_005248285.1:p.Asp302Asn, NP_004925.1:p.Asp302Asn, XP_006714498.1:p.Asp302Asn, XP_011512232.1:p.Asp302Asn, XP_016864417.1:p.Asp302Asn, NP_001278885.1:p.Asp302Asn, XP_016864415.1:p.Asp302Asn, XP_016864413.1:p.Asp302Asn, XP_016864416.1:p.Asp302Asn, XP_016864418.1:p.Asp302Asn, NP_001161139.1:p.Asp302Asn, XP_016864419.1:p.Asp302Asn, NP_001336487.1:p.Asp302Asn, NP_001336485.1:p.Asp302Asn, NP_001336491.1:p.Asp79Asn, NP_001336492.1:p.Asp79Asn, NP_001336488.1:p.Asp302Asn, NP_001278886.1:p.Asp302Asn, NP_001336489.1:p.Asp302Asn, NP_001336490.1:p.Asp302Asn

                8.

                rs1486479328 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  5:19473500 (GRCh38)
                  5:19473609 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:19473499:C:G,NC_000005.10:19473499:C:T
                  Gene:
                  CDH18 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,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_000005.10:g.19473500C>G, NC_000005.10:g.19473500C>T, NC_000005.9:g.19473609C>G, NC_000005.9:g.19473609C>T, XM_005248228.5:c.2099G>C, XM_005248228.5:c.2099G>A, XM_005248228.4:c.2099G>C, XM_005248228.4:c.2099G>A, XM_005248228.3:c.2099G>C, XM_005248228.3:c.2099G>A, XM_005248228.2:c.2099G>C, XM_005248228.2:c.2099G>A, XM_005248228.1:c.2099G>C, XM_005248228.1:c.2099G>A, NM_004934.5:c.2099G>C, NM_004934.5:c.2099G>A, NM_004934.4:c.2099G>C, NM_004934.4:c.2099G>A, NM_004934.3:c.2099G>C, NM_004934.3:c.2099G>A, XM_006714435.5:c.2099G>C, XM_006714435.5:c.2099G>A, XM_006714435.4:c.2099G>C, XM_006714435.4:c.2099G>A, XM_006714435.3:c.2099G>C, XM_006714435.3:c.2099G>A, XM_006714435.2:c.2099G>C, XM_006714435.2:c.2099G>A, XM_006714435.1:c.2099G>C, XM_006714435.1:c.2099G>A, XM_017008928.3:c.2099G>C, XM_017008928.3:c.2099G>A, XM_017008928.2:c.2099G>C, XM_017008928.2:c.2099G>A, XM_017008928.1:c.2099G>C, XM_017008928.1:c.2099G>A, NM_001291956.3:c.2099G>C, NM_001291956.3:c.2099G>A, NM_001291956.2:c.2099G>C, NM_001291956.2:c.2099G>A, NM_001291956.1:c.2099G>C, NM_001291956.1:c.2099G>A, XM_017008926.3:c.2099G>C, XM_017008926.3:c.2099G>A, XM_017008926.2:c.2099G>C, XM_017008926.2:c.2099G>A, XM_017008926.1:c.2099G>C, XM_017008926.1:c.2099G>A, XM_017008924.3:c.2099G>C, XM_017008924.3:c.2099G>A, XM_017008924.2:c.2099G>C, XM_017008924.2:c.2099G>A, XM_017008924.1:c.2099G>C, XM_017008924.1:c.2099G>A, XM_017008927.3:c.2099G>C, XM_017008927.3:c.2099G>A, XM_017008927.2:c.2099G>C, XM_017008927.2:c.2099G>A, XM_017008927.1:c.2099G>C, XM_017008927.1:c.2099G>A, XM_017008929.3:c.2099G>C, XM_017008929.3:c.2099G>A, XM_017008929.2:c.2099G>C, XM_017008929.2:c.2099G>A, XM_017008929.1:c.2099G>C, XM_017008929.1:c.2099G>A, NM_001167667.3:c.*265G>C, NM_001167667.3:c.*265G>A, NM_001167667.2:c.*265G>C, NM_001167667.2:c.*265G>A, NM_001167667.1:c.*265G>C, NM_001167667.1:c.*265G>A, XM_017008930.3:c.2099G>C, XM_017008930.3:c.2099G>A, XM_017008930.2:c.2099G>C, XM_017008930.2:c.2099G>A, XM_017008930.1:c.2099G>C, XM_017008930.1:c.2099G>A, NM_001349558.2:c.2099G>C, NM_001349558.2:c.2099G>A, NM_001349558.1:c.2099G>C, NM_001349558.1:c.2099G>A, NM_001349556.2:c.2099G>C, NM_001349556.2:c.2099G>A, NM_001349556.1:c.2099G>C, NM_001349556.1:c.2099G>A, NM_001349562.2:c.1430G>C, NM_001349562.2:c.1430G>A, NM_001349562.1:c.1430G>C, NM_001349562.1:c.1430G>A, NM_001349563.2:c.1430G>C, NM_001349563.2:c.1430G>A, NM_001349563.1:c.1430G>C, NM_001349563.1:c.1430G>A, NM_001349559.2:c.2099G>C, NM_001349559.2:c.2099G>A, NM_001349559.1:c.2099G>C, NM_001349559.1:c.2099G>A, NM_001291957.2:c.*265G>C, NM_001291957.2:c.*265G>A, NM_001291957.1:c.*265G>C, NM_001291957.1:c.*265G>A, NM_001349560.2:c.*265G>C, NM_001349560.2:c.*265G>A, NM_001349560.1:c.*265G>C, NM_001349560.1:c.*265G>A, NM_001349561.2:c.*265G>C, NM_001349561.2:c.*265G>A, NM_001349561.1:c.*265G>C, NM_001349561.1:c.*265G>A, XP_005248285.1:p.Arg700Thr, XP_005248285.1:p.Arg700Lys, NP_004925.1:p.Arg700Thr, NP_004925.1:p.Arg700Lys, XP_006714498.1:p.Arg700Thr, XP_006714498.1:p.Arg700Lys, XP_016864417.1:p.Arg700Thr, XP_016864417.1:p.Arg700Lys, NP_001278885.1:p.Arg700Thr, NP_001278885.1:p.Arg700Lys, XP_016864415.1:p.Arg700Thr, XP_016864415.1:p.Arg700Lys, XP_016864413.1:p.Arg700Thr, XP_016864413.1:p.Arg700Lys, XP_016864416.1:p.Arg700Thr, XP_016864416.1:p.Arg700Lys, XP_016864418.1:p.Arg700Thr, XP_016864418.1:p.Arg700Lys, XP_016864419.1:p.Arg700Thr, XP_016864419.1:p.Arg700Lys, NP_001336487.1:p.Arg700Thr, NP_001336487.1:p.Arg700Lys, NP_001336485.1:p.Arg700Thr, NP_001336485.1:p.Arg700Lys, NP_001336491.1:p.Arg477Thr, NP_001336491.1:p.Arg477Lys, NP_001336492.1:p.Arg477Thr, NP_001336492.1:p.Arg477Lys, NP_001336488.1:p.Arg700Thr, NP_001336488.1:p.Arg700Lys

                  9.

                  rs1485660362 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    5:19543919 (GRCh38)
                    5:19544028 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:19543918:T:A,NC_000005.10:19543918:T:C
                    Gene:
                    CDH18 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000005.10:g.19543919T>A, NC_000005.10:g.19543919T>C, NC_000005.9:g.19544028T>A, NC_000005.9:g.19544028T>C, XM_005248228.5:c.1340A>T, XM_005248228.5:c.1340A>G, XM_005248228.4:c.1340A>T, XM_005248228.4:c.1340A>G, XM_005248228.3:c.1340A>T, XM_005248228.3:c.1340A>G, XM_005248228.2:c.1340A>T, XM_005248228.2:c.1340A>G, XM_005248228.1:c.1340A>T, XM_005248228.1:c.1340A>G, NM_004934.5:c.1340A>T, NM_004934.5:c.1340A>G, NM_004934.4:c.1340A>T, NM_004934.4:c.1340A>G, NM_004934.3:c.1340A>T, NM_004934.3:c.1340A>G, XM_006714435.5:c.1340A>T, XM_006714435.5:c.1340A>G, XM_006714435.4:c.1340A>T, XM_006714435.4:c.1340A>G, XM_006714435.3:c.1340A>T, XM_006714435.3:c.1340A>G, XM_006714435.2:c.1340A>T, XM_006714435.2:c.1340A>G, XM_006714435.1:c.1340A>T, XM_006714435.1:c.1340A>G, XM_011513930.4:c.1340A>T, XM_011513930.4:c.1340A>G, XM_011513930.3:c.1340A>T, XM_011513930.3:c.1340A>G, XM_011513930.2:c.1340A>T, XM_011513930.2:c.1340A>G, XM_011513930.1:c.1340A>T, XM_011513930.1:c.1340A>G, XM_017008928.3:c.1340A>T, XM_017008928.3:c.1340A>G, XM_017008928.2:c.1340A>T, XM_017008928.2:c.1340A>G, XM_017008928.1:c.1340A>T, XM_017008928.1:c.1340A>G, NM_001291956.3:c.1340A>T, NM_001291956.3:c.1340A>G, NM_001291956.2:c.1340A>T, NM_001291956.2:c.1340A>G, NM_001291956.1:c.1340A>T, NM_001291956.1:c.1340A>G, XM_017008926.3:c.1340A>T, XM_017008926.3:c.1340A>G, XM_017008926.2:c.1340A>T, XM_017008926.2:c.1340A>G, XM_017008926.1:c.1340A>T, XM_017008926.1:c.1340A>G, XM_017008924.3:c.1340A>T, XM_017008924.3:c.1340A>G, XM_017008924.2:c.1340A>T, XM_017008924.2:c.1340A>G, XM_017008924.1:c.1340A>T, XM_017008924.1:c.1340A>G, XM_017008927.3:c.1340A>T, XM_017008927.3:c.1340A>G, XM_017008927.2:c.1340A>T, XM_017008927.2:c.1340A>G, XM_017008927.1:c.1340A>T, XM_017008927.1:c.1340A>G, XM_017008929.3:c.1340A>T, XM_017008929.3:c.1340A>G, XM_017008929.2:c.1340A>T, XM_017008929.2:c.1340A>G, XM_017008929.1:c.1340A>T, XM_017008929.1:c.1340A>G, NM_001167667.3:c.1340A>T, NM_001167667.3:c.1340A>G, NM_001167667.2:c.1340A>T, NM_001167667.2:c.1340A>G, NM_001167667.1:c.1340A>T, NM_001167667.1:c.1340A>G, XM_017008930.3:c.1340A>T, XM_017008930.3:c.1340A>G, XM_017008930.2:c.1340A>T, XM_017008930.2:c.1340A>G, XM_017008930.1:c.1340A>T, XM_017008930.1:c.1340A>G, NM_001349558.2:c.1340A>T, NM_001349558.2:c.1340A>G, NM_001349558.1:c.1340A>T, NM_001349558.1:c.1340A>G, NM_001349556.2:c.1340A>T, NM_001349556.2:c.1340A>G, NM_001349556.1:c.1340A>T, NM_001349556.1:c.1340A>G, NM_001349562.2:c.671A>T, NM_001349562.2:c.671A>G, NM_001349562.1:c.671A>T, NM_001349562.1:c.671A>G, NM_001349563.2:c.671A>T, NM_001349563.2:c.671A>G, NM_001349563.1:c.671A>T, NM_001349563.1:c.671A>G, NM_001349559.2:c.1340A>T, NM_001349559.2:c.1340A>G, NM_001349559.1:c.1340A>T, NM_001349559.1:c.1340A>G, NM_001291957.2:c.1340A>T, NM_001291957.2:c.1340A>G, NM_001291957.1:c.1340A>T, NM_001291957.1:c.1340A>G, NM_001349560.2:c.1340A>T, NM_001349560.2:c.1340A>G, NM_001349560.1:c.1340A>T, NM_001349560.1:c.1340A>G, NM_001349561.2:c.1340A>T, NM_001349561.2:c.1340A>G, NM_001349561.1:c.1340A>T, NM_001349561.1:c.1340A>G, XP_005248285.1:p.Asp447Val, XP_005248285.1:p.Asp447Gly, NP_004925.1:p.Asp447Val, NP_004925.1:p.Asp447Gly, XP_006714498.1:p.Asp447Val, XP_006714498.1:p.Asp447Gly, XP_011512232.1:p.Asp447Val, XP_011512232.1:p.Asp447Gly, XP_016864417.1:p.Asp447Val, XP_016864417.1:p.Asp447Gly, NP_001278885.1:p.Asp447Val, NP_001278885.1:p.Asp447Gly, XP_016864415.1:p.Asp447Val, XP_016864415.1:p.Asp447Gly, XP_016864413.1:p.Asp447Val, XP_016864413.1:p.Asp447Gly, XP_016864416.1:p.Asp447Val, XP_016864416.1:p.Asp447Gly, XP_016864418.1:p.Asp447Val, XP_016864418.1:p.Asp447Gly, NP_001161139.1:p.Asp447Val, NP_001161139.1:p.Asp447Gly, XP_016864419.1:p.Asp447Val, XP_016864419.1:p.Asp447Gly, NP_001336487.1:p.Asp447Val, NP_001336487.1:p.Asp447Gly, NP_001336485.1:p.Asp447Val, NP_001336485.1:p.Asp447Gly, NP_001336491.1:p.Asp224Val, NP_001336491.1:p.Asp224Gly, NP_001336492.1:p.Asp224Val, NP_001336492.1:p.Asp224Gly, NP_001336488.1:p.Asp447Val, NP_001336488.1:p.Asp447Gly, NP_001278886.1:p.Asp447Val, NP_001278886.1:p.Asp447Gly, NP_001336489.1:p.Asp447Val, NP_001336489.1:p.Asp447Gly, NP_001336490.1:p.Asp447Val, NP_001336490.1:p.Asp447Gly

                    10.

                    rs1483473313 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      5:19838973 (GRCh38)
                      5:19839082 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:19838972:C:A
                      Gene:
                      CDH18 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,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_000005.10:g.19838973C>A, NC_000005.9:g.19839082C>A, XM_005248228.5:c.14G>T, XM_005248228.4:c.14G>T, XM_005248228.3:c.14G>T, XM_005248228.2:c.14G>T, XM_005248228.1:c.14G>T, NM_004934.5:c.14G>T, NM_004934.4:c.14G>T, NM_004934.3:c.14G>T, XM_006714435.5:c.14G>T, XM_006714435.4:c.14G>T, XM_006714435.3:c.14G>T, XM_006714435.2:c.14G>T, XM_006714435.1:c.14G>T, XM_011513930.4:c.14G>T, XM_011513930.3:c.14G>T, XM_011513930.2:c.14G>T, XM_011513930.1:c.14G>T, XM_017008928.3:c.14G>T, XM_017008928.2:c.14G>T, XM_017008928.1:c.14G>T, NM_001291956.3:c.14G>T, NM_001291956.2:c.14G>T, NM_001291956.1:c.14G>T, XM_017008926.3:c.14G>T, XM_017008926.2:c.14G>T, XM_017008926.1:c.14G>T, XM_017008924.3:c.14G>T, XM_017008924.2:c.14G>T, XM_017008924.1:c.14G>T, XM_017008927.3:c.14G>T, XM_017008927.2:c.14G>T, XM_017008927.1:c.14G>T, XM_017008929.3:c.14G>T, XM_017008929.2:c.14G>T, XM_017008929.1:c.14G>T, NM_001167667.3:c.14G>T, NM_001167667.2:c.14G>T, NM_001167667.1:c.14G>T, XM_017008930.3:c.14G>T, XM_017008930.2:c.14G>T, XM_017008930.1:c.14G>T, NM_001349558.2:c.14G>T, NM_001349558.1:c.14G>T, NM_001349556.2:c.14G>T, NM_001349556.1:c.14G>T, NM_001349562.2:c.-745G>T, NM_001349562.1:c.-745G>T, NM_001349563.2:c.-745G>T, NM_001349563.1:c.-745G>T, NM_001349559.2:c.14G>T, NM_001349559.1:c.14G>T, NM_001291957.2:c.14G>T, NM_001291957.1:c.14G>T, NM_001349560.2:c.14G>T, NM_001349560.1:c.14G>T, NM_001349561.2:c.14G>T, NM_001349561.1:c.14G>T, XP_005248285.1:p.Ser5Ile, NP_004925.1:p.Ser5Ile, XP_006714498.1:p.Ser5Ile, XP_011512232.1:p.Ser5Ile, XP_016864417.1:p.Ser5Ile, NP_001278885.1:p.Ser5Ile, XP_016864415.1:p.Ser5Ile, XP_016864413.1:p.Ser5Ile, XP_016864416.1:p.Ser5Ile, XP_016864418.1:p.Ser5Ile, NP_001161139.1:p.Ser5Ile, XP_016864419.1:p.Ser5Ile, NP_001336487.1:p.Ser5Ile, NP_001336485.1:p.Ser5Ile, NP_001336488.1:p.Ser5Ile, NP_001278886.1:p.Ser5Ile, NP_001336489.1:p.Ser5Ile, NP_001336490.1:p.Ser5Ile

                      11.

                      rs1482691225 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:19543966 (GRCh38)
                        5:19544075 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:19543965:G:A
                        Gene:
                        CDH18 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000005.10:g.19543966G>A, NC_000005.9:g.19544075G>A, XM_005248228.5:c.1293C>T, XM_005248228.4:c.1293C>T, XM_005248228.3:c.1293C>T, XM_005248228.2:c.1293C>T, XM_005248228.1:c.1293C>T, NM_004934.5:c.1293C>T, NM_004934.4:c.1293C>T, NM_004934.3:c.1293C>T, XM_006714435.5:c.1293C>T, XM_006714435.4:c.1293C>T, XM_006714435.3:c.1293C>T, XM_006714435.2:c.1293C>T, XM_006714435.1:c.1293C>T, XM_011513930.4:c.1293C>T, XM_011513930.3:c.1293C>T, XM_011513930.2:c.1293C>T, XM_011513930.1:c.1293C>T, XM_017008928.3:c.1293C>T, XM_017008928.2:c.1293C>T, XM_017008928.1:c.1293C>T, NM_001291956.3:c.1293C>T, NM_001291956.2:c.1293C>T, NM_001291956.1:c.1293C>T, XM_017008926.3:c.1293C>T, XM_017008926.2:c.1293C>T, XM_017008926.1:c.1293C>T, XM_017008924.3:c.1293C>T, XM_017008924.2:c.1293C>T, XM_017008924.1:c.1293C>T, XM_017008927.3:c.1293C>T, XM_017008927.2:c.1293C>T, XM_017008927.1:c.1293C>T, XM_017008929.3:c.1293C>T, XM_017008929.2:c.1293C>T, XM_017008929.1:c.1293C>T, NM_001167667.3:c.1293C>T, NM_001167667.2:c.1293C>T, NM_001167667.1:c.1293C>T, XM_017008930.3:c.1293C>T, XM_017008930.2:c.1293C>T, XM_017008930.1:c.1293C>T, NM_001349558.2:c.1293C>T, NM_001349558.1:c.1293C>T, NM_001349556.2:c.1293C>T, NM_001349556.1:c.1293C>T, NM_001349562.2:c.624C>T, NM_001349562.1:c.624C>T, NM_001349563.2:c.624C>T, NM_001349563.1:c.624C>T, NM_001349559.2:c.1293C>T, NM_001349559.1:c.1293C>T, NM_001291957.2:c.1293C>T, NM_001291957.1:c.1293C>T, NM_001349560.2:c.1293C>T, NM_001349560.1:c.1293C>T, NM_001349561.2:c.1293C>T, NM_001349561.1:c.1293C>T

                        12.

                        rs1482361285 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          5:19520657 (GRCh38)
                          5:19520766 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:19520656:C:A
                          Gene:
                          CDH18 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000005.10:g.19520657C>A, NC_000005.9:g.19520766C>A, XM_005248228.5:c.1512G>T, XM_005248228.4:c.1512G>T, XM_005248228.3:c.1512G>T, XM_005248228.2:c.1512G>T, XM_005248228.1:c.1512G>T, NM_004934.5:c.1512G>T, NM_004934.4:c.1512G>T, NM_004934.3:c.1512G>T, XM_006714435.5:c.1512G>T, XM_006714435.4:c.1512G>T, XM_006714435.3:c.1512G>T, XM_006714435.2:c.1512G>T, XM_006714435.1:c.1512G>T, XM_011513930.4:c.1512G>T, XM_011513930.3:c.1512G>T, XM_011513930.2:c.1512G>T, XM_011513930.1:c.1512G>T, XM_017008928.3:c.1512G>T, XM_017008928.2:c.1512G>T, XM_017008928.1:c.1512G>T, NM_001291956.3:c.1512G>T, NM_001291956.2:c.1512G>T, NM_001291956.1:c.1512G>T, XM_017008926.3:c.1512G>T, XM_017008926.2:c.1512G>T, XM_017008926.1:c.1512G>T, XM_017008924.3:c.1512G>T, XM_017008924.2:c.1512G>T, XM_017008924.1:c.1512G>T, XM_017008927.3:c.1512G>T, XM_017008927.2:c.1512G>T, XM_017008927.1:c.1512G>T, XM_017008929.3:c.1512G>T, XM_017008929.2:c.1512G>T, XM_017008929.1:c.1512G>T, NM_001167667.3:c.1512G>T, NM_001167667.2:c.1512G>T, NM_001167667.1:c.1512G>T, XM_017008930.3:c.1512G>T, XM_017008930.2:c.1512G>T, XM_017008930.1:c.1512G>T, NM_001349558.2:c.1512G>T, NM_001349558.1:c.1512G>T, NM_001349556.2:c.1512G>T, NM_001349556.1:c.1512G>T, NM_001349562.2:c.843G>T, NM_001349562.1:c.843G>T, NM_001349563.2:c.843G>T, NM_001349563.1:c.843G>T, NM_001349559.2:c.1512G>T, NM_001349559.1:c.1512G>T, NM_001291957.2:c.1512G>T, NM_001291957.1:c.1512G>T, NM_001349560.2:c.1512G>T, NM_001349560.1:c.1512G>T, NM_001349561.2:c.1512G>T, NM_001349561.1:c.1512G>T, XP_005248285.1:p.Gln504His, NP_004925.1:p.Gln504His, XP_006714498.1:p.Gln504His, XP_011512232.1:p.Gln504His, XP_016864417.1:p.Gln504His, NP_001278885.1:p.Gln504His, XP_016864415.1:p.Gln504His, XP_016864413.1:p.Gln504His, XP_016864416.1:p.Gln504His, XP_016864418.1:p.Gln504His, NP_001161139.1:p.Gln504His, XP_016864419.1:p.Gln504His, NP_001336487.1:p.Gln504His, NP_001336485.1:p.Gln504His, NP_001336491.1:p.Gln281His, NP_001336492.1:p.Gln281His, NP_001336488.1:p.Gln504His, NP_001278886.1:p.Gln504His, NP_001336489.1:p.Gln504His, NP_001336490.1:p.Gln504His

                          13.

                          rs1481325327 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            5:19473448 (GRCh38)
                            5:19473557 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:19473447:C:T
                            Gene:
                            CDH18 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.19473448C>T, NC_000005.9:g.19473557C>T, XM_005248228.5:c.2151G>A, XM_005248228.4:c.2151G>A, XM_005248228.3:c.2151G>A, XM_005248228.2:c.2151G>A, XM_005248228.1:c.2151G>A, NM_004934.5:c.2151G>A, NM_004934.4:c.2151G>A, NM_004934.3:c.2151G>A, XM_006714435.5:c.2151G>A, XM_006714435.4:c.2151G>A, XM_006714435.3:c.2151G>A, XM_006714435.2:c.2151G>A, XM_006714435.1:c.2151G>A, XM_017008928.3:c.2151G>A, XM_017008928.2:c.2151G>A, XM_017008928.1:c.2151G>A, NM_001291956.3:c.2151G>A, NM_001291956.2:c.2151G>A, NM_001291956.1:c.2151G>A, XM_017008926.3:c.2151G>A, XM_017008926.2:c.2151G>A, XM_017008926.1:c.2151G>A, XM_017008924.3:c.2151G>A, XM_017008924.2:c.2151G>A, XM_017008924.1:c.2151G>A, XM_017008927.3:c.2151G>A, XM_017008927.2:c.2151G>A, XM_017008927.1:c.2151G>A, XM_017008929.3:c.2151G>A, XM_017008929.2:c.2151G>A, XM_017008929.1:c.2151G>A, NM_001167667.3:c.*317G>A, NM_001167667.2:c.*317G>A, NM_001167667.1:c.*317G>A, XM_017008930.3:c.2151G>A, XM_017008930.2:c.2151G>A, XM_017008930.1:c.2151G>A, NM_001349558.2:c.2151G>A, NM_001349558.1:c.2151G>A, NM_001349556.2:c.2151G>A, NM_001349556.1:c.2151G>A, NM_001349562.2:c.1482G>A, NM_001349562.1:c.1482G>A, NM_001349563.2:c.1482G>A, NM_001349563.1:c.1482G>A, NM_001349559.2:c.2151G>A, NM_001349559.1:c.2151G>A, NM_001291957.2:c.*317G>A, NM_001291957.1:c.*317G>A, NM_001349560.2:c.*317G>A, NM_001349560.1:c.*317G>A, NM_001349561.2:c.*317G>A, NM_001349561.1:c.*317G>A

                            14.

                            rs1478430198 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              5:19520673 (GRCh38)
                              5:19520782 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:19520672:T:G
                              Gene:
                              CDH18 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.19520673T>G, NC_000005.9:g.19520782T>G, XM_005248228.5:c.1496A>C, XM_005248228.4:c.1496A>C, XM_005248228.3:c.1496A>C, XM_005248228.2:c.1496A>C, XM_005248228.1:c.1496A>C, NM_004934.5:c.1496A>C, NM_004934.4:c.1496A>C, NM_004934.3:c.1496A>C, XM_006714435.5:c.1496A>C, XM_006714435.4:c.1496A>C, XM_006714435.3:c.1496A>C, XM_006714435.2:c.1496A>C, XM_006714435.1:c.1496A>C, XM_011513930.4:c.1496A>C, XM_011513930.3:c.1496A>C, XM_011513930.2:c.1496A>C, XM_011513930.1:c.1496A>C, XM_017008928.3:c.1496A>C, XM_017008928.2:c.1496A>C, XM_017008928.1:c.1496A>C, NM_001291956.3:c.1496A>C, NM_001291956.2:c.1496A>C, NM_001291956.1:c.1496A>C, XM_017008926.3:c.1496A>C, XM_017008926.2:c.1496A>C, XM_017008926.1:c.1496A>C, XM_017008924.3:c.1496A>C, XM_017008924.2:c.1496A>C, XM_017008924.1:c.1496A>C, XM_017008927.3:c.1496A>C, XM_017008927.2:c.1496A>C, XM_017008927.1:c.1496A>C, XM_017008929.3:c.1496A>C, XM_017008929.2:c.1496A>C, XM_017008929.1:c.1496A>C, NM_001167667.3:c.1496A>C, NM_001167667.2:c.1496A>C, NM_001167667.1:c.1496A>C, XM_017008930.3:c.1496A>C, XM_017008930.2:c.1496A>C, XM_017008930.1:c.1496A>C, NM_001349558.2:c.1496A>C, NM_001349558.1:c.1496A>C, NM_001349556.2:c.1496A>C, NM_001349556.1:c.1496A>C, NM_001349562.2:c.827A>C, NM_001349562.1:c.827A>C, NM_001349563.2:c.827A>C, NM_001349563.1:c.827A>C, NM_001349559.2:c.1496A>C, NM_001349559.1:c.1496A>C, NM_001291957.2:c.1496A>C, NM_001291957.1:c.1496A>C, NM_001349560.2:c.1496A>C, NM_001349560.1:c.1496A>C, NM_001349561.2:c.1496A>C, NM_001349561.1:c.1496A>C, XP_005248285.1:p.Asn499Thr, NP_004925.1:p.Asn499Thr, XP_006714498.1:p.Asn499Thr, XP_011512232.1:p.Asn499Thr, XP_016864417.1:p.Asn499Thr, NP_001278885.1:p.Asn499Thr, XP_016864415.1:p.Asn499Thr, XP_016864413.1:p.Asn499Thr, XP_016864416.1:p.Asn499Thr, XP_016864418.1:p.Asn499Thr, NP_001161139.1:p.Asn499Thr, XP_016864419.1:p.Asn499Thr, NP_001336487.1:p.Asn499Thr, NP_001336485.1:p.Asn499Thr, NP_001336491.1:p.Asn276Thr, NP_001336492.1:p.Asn276Thr, NP_001336488.1:p.Asn499Thr, NP_001278886.1:p.Asn499Thr, NP_001336489.1:p.Asn499Thr, NP_001336490.1:p.Asn499Thr

                              15.

                              rs1476428433 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                5:19571676 (GRCh38)
                                5:19571785 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:19571675:G:T
                                Gene:
                                CDH18 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.19571676G>T, NC_000005.9:g.19571785G>T, XM_005248228.5:c.1156C>A, XM_005248228.4:c.1156C>A, XM_005248228.3:c.1156C>A, XM_005248228.2:c.1156C>A, XM_005248228.1:c.1156C>A, NM_004934.5:c.1156C>A, NM_004934.4:c.1156C>A, NM_004934.3:c.1156C>A, XM_006714435.5:c.1156C>A, XM_006714435.4:c.1156C>A, XM_006714435.3:c.1156C>A, XM_006714435.2:c.1156C>A, XM_006714435.1:c.1156C>A, XM_011513930.4:c.1156C>A, XM_011513930.3:c.1156C>A, XM_011513930.2:c.1156C>A, XM_011513930.1:c.1156C>A, XM_017008928.3:c.1156C>A, XM_017008928.2:c.1156C>A, XM_017008928.1:c.1156C>A, NM_001291956.3:c.1156C>A, NM_001291956.2:c.1156C>A, NM_001291956.1:c.1156C>A, XM_017008926.3:c.1156C>A, XM_017008926.2:c.1156C>A, XM_017008926.1:c.1156C>A, XM_017008924.3:c.1156C>A, XM_017008924.2:c.1156C>A, XM_017008924.1:c.1156C>A, XM_017008927.3:c.1156C>A, XM_017008927.2:c.1156C>A, XM_017008927.1:c.1156C>A, XM_017008929.3:c.1156C>A, XM_017008929.2:c.1156C>A, XM_017008929.1:c.1156C>A, NM_001167667.3:c.1156C>A, NM_001167667.2:c.1156C>A, NM_001167667.1:c.1156C>A, XM_017008930.3:c.1156C>A, XM_017008930.2:c.1156C>A, XM_017008930.1:c.1156C>A, NM_001349558.2:c.1156C>A, NM_001349558.1:c.1156C>A, NM_001349556.2:c.1156C>A, NM_001349556.1:c.1156C>A, NM_001349562.2:c.487C>A, NM_001349562.1:c.487C>A, NM_001349563.2:c.487C>A, NM_001349563.1:c.487C>A, NM_001349559.2:c.1156C>A, NM_001349559.1:c.1156C>A, NM_001291957.2:c.1156C>A, NM_001291957.1:c.1156C>A, NM_001349560.2:c.1156C>A, NM_001349560.1:c.1156C>A, NM_001349561.2:c.1156C>A, NM_001349561.1:c.1156C>A, XP_005248285.1:p.Pro386Thr, NP_004925.1:p.Pro386Thr, XP_006714498.1:p.Pro386Thr, XP_011512232.1:p.Pro386Thr, XP_016864417.1:p.Pro386Thr, NP_001278885.1:p.Pro386Thr, XP_016864415.1:p.Pro386Thr, XP_016864413.1:p.Pro386Thr, XP_016864416.1:p.Pro386Thr, XP_016864418.1:p.Pro386Thr, NP_001161139.1:p.Pro386Thr, XP_016864419.1:p.Pro386Thr, NP_001336487.1:p.Pro386Thr, NP_001336485.1:p.Pro386Thr, NP_001336491.1:p.Pro163Thr, NP_001336492.1:p.Pro163Thr, NP_001336488.1:p.Pro386Thr, NP_001278886.1:p.Pro386Thr, NP_001336489.1:p.Pro386Thr, NP_001336490.1:p.Pro386Thr

                                16.

                                rs1476064031 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  5:19473652 (GRCh38)
                                  5:19473761 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:19473651:C:G
                                  Gene:
                                  CDH18 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.19473652C>G, NC_000005.9:g.19473761C>G, XM_005248228.5:c.1947G>C, XM_005248228.4:c.1947G>C, XM_005248228.3:c.1947G>C, XM_005248228.2:c.1947G>C, XM_005248228.1:c.1947G>C, NM_004934.5:c.1947G>C, NM_004934.4:c.1947G>C, NM_004934.3:c.1947G>C, XM_006714435.5:c.1947G>C, XM_006714435.4:c.1947G>C, XM_006714435.3:c.1947G>C, XM_006714435.2:c.1947G>C, XM_006714435.1:c.1947G>C, XM_017008928.3:c.1947G>C, XM_017008928.2:c.1947G>C, XM_017008928.1:c.1947G>C, NM_001291956.3:c.1947G>C, NM_001291956.2:c.1947G>C, NM_001291956.1:c.1947G>C, XM_017008926.3:c.1947G>C, XM_017008926.2:c.1947G>C, XM_017008926.1:c.1947G>C, XM_017008924.3:c.1947G>C, XM_017008924.2:c.1947G>C, XM_017008924.1:c.1947G>C, XM_017008927.3:c.1947G>C, XM_017008927.2:c.1947G>C, XM_017008927.1:c.1947G>C, XM_017008929.3:c.1947G>C, XM_017008929.2:c.1947G>C, XM_017008929.1:c.1947G>C, NM_001167667.3:c.*113G>C, NM_001167667.2:c.*113G>C, NM_001167667.1:c.*113G>C, XM_017008930.3:c.1947G>C, XM_017008930.2:c.1947G>C, XM_017008930.1:c.1947G>C, NM_001349558.2:c.1947G>C, NM_001349558.1:c.1947G>C, NM_001349556.2:c.1947G>C, NM_001349556.1:c.1947G>C, NM_001349562.2:c.1278G>C, NM_001349562.1:c.1278G>C, NM_001349563.2:c.1278G>C, NM_001349563.1:c.1278G>C, NM_001349559.2:c.1947G>C, NM_001349559.1:c.1947G>C, NM_001291957.2:c.*113G>C, NM_001291957.1:c.*113G>C, NM_001349560.2:c.*113G>C, NM_001349560.1:c.*113G>C, NM_001349561.2:c.*113G>C, NM_001349561.1:c.*113G>C, XP_005248285.1:p.Glu649Asp, NP_004925.1:p.Glu649Asp, XP_006714498.1:p.Glu649Asp, XP_016864417.1:p.Glu649Asp, NP_001278885.1:p.Glu649Asp, XP_016864415.1:p.Glu649Asp, XP_016864413.1:p.Glu649Asp, XP_016864416.1:p.Glu649Asp, XP_016864418.1:p.Glu649Asp, XP_016864419.1:p.Glu649Asp, NP_001336487.1:p.Glu649Asp, NP_001336485.1:p.Glu649Asp, NP_001336491.1:p.Glu426Asp, NP_001336492.1:p.Glu426Asp, NP_001336488.1:p.Glu649Asp

                                  17.

                                  rs1475388600 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    5:19612519 (GRCh38)
                                    5:19612628 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:19612518:A:G
                                    Gene:
                                    CDH18 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000005.10:g.19612519A>G, NC_000005.9:g.19612628A>G, XM_005248228.5:c.726T>C, XM_005248228.4:c.726T>C, XM_005248228.3:c.726T>C, XM_005248228.2:c.726T>C, XM_005248228.1:c.726T>C, NM_004934.5:c.726T>C, NM_004934.4:c.726T>C, NM_004934.3:c.726T>C, XM_006714435.5:c.726T>C, XM_006714435.4:c.726T>C, XM_006714435.3:c.726T>C, XM_006714435.2:c.726T>C, XM_006714435.1:c.726T>C, XM_011513930.4:c.726T>C, XM_011513930.3:c.726T>C, XM_011513930.2:c.726T>C, XM_011513930.1:c.726T>C, XM_017008928.3:c.726T>C, XM_017008928.2:c.726T>C, XM_017008928.1:c.726T>C, NM_001291956.3:c.726T>C, NM_001291956.2:c.726T>C, NM_001291956.1:c.726T>C, XM_017008926.3:c.726T>C, XM_017008926.2:c.726T>C, XM_017008926.1:c.726T>C, XM_017008924.3:c.726T>C, XM_017008924.2:c.726T>C, XM_017008924.1:c.726T>C, XM_017008927.3:c.726T>C, XM_017008927.2:c.726T>C, XM_017008927.1:c.726T>C, XM_017008929.3:c.726T>C, XM_017008929.2:c.726T>C, XM_017008929.1:c.726T>C, NM_001167667.3:c.726T>C, NM_001167667.2:c.726T>C, NM_001167667.1:c.726T>C, XM_017008930.3:c.726T>C, XM_017008930.2:c.726T>C, XM_017008930.1:c.726T>C, NM_001349558.2:c.726T>C, NM_001349558.1:c.726T>C, NM_001349556.2:c.726T>C, NM_001349556.1:c.726T>C, NM_001349562.2:c.57T>C, NM_001349562.1:c.57T>C, NM_001349563.2:c.57T>C, NM_001349563.1:c.57T>C, NM_001349559.2:c.726T>C, NM_001349559.1:c.726T>C, NM_001291957.2:c.726T>C, NM_001291957.1:c.726T>C, NM_001349560.2:c.726T>C, NM_001349560.1:c.726T>C, NM_001349561.2:c.726T>C, NM_001349561.1:c.726T>C

                                    18.

                                    rs1475336267 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      5:19838819 (GRCh38)
                                      5:19838928 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:19838818:T:C
                                      Gene:
                                      CDH18 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.19838819T>C, NC_000005.9:g.19838928T>C, XM_005248228.5:c.168A>G, XM_005248228.4:c.168A>G, XM_005248228.3:c.168A>G, XM_005248228.2:c.168A>G, XM_005248228.1:c.168A>G, NM_004934.5:c.168A>G, NM_004934.4:c.168A>G, NM_004934.3:c.168A>G, XM_006714435.5:c.168A>G, XM_006714435.4:c.168A>G, XM_006714435.3:c.168A>G, XM_006714435.2:c.168A>G, XM_006714435.1:c.168A>G, XM_011513930.4:c.168A>G, XM_011513930.3:c.168A>G, XM_011513930.2:c.168A>G, XM_011513930.1:c.168A>G, XM_017008928.3:c.168A>G, XM_017008928.2:c.168A>G, XM_017008928.1:c.168A>G, NM_001291956.3:c.168A>G, NM_001291956.2:c.168A>G, NM_001291956.1:c.168A>G, XM_017008926.3:c.168A>G, XM_017008926.2:c.168A>G, XM_017008926.1:c.168A>G, XM_017008924.3:c.168A>G, XM_017008924.2:c.168A>G, XM_017008924.1:c.168A>G, XM_017008927.3:c.168A>G, XM_017008927.2:c.168A>G, XM_017008927.1:c.168A>G, XM_017008929.3:c.168A>G, XM_017008929.2:c.168A>G, XM_017008929.1:c.168A>G, NM_001167667.3:c.168A>G, NM_001167667.2:c.168A>G, NM_001167667.1:c.168A>G, XM_017008930.3:c.168A>G, XM_017008930.2:c.168A>G, XM_017008930.1:c.168A>G, NM_001349558.2:c.168A>G, NM_001349558.1:c.168A>G, NM_001349556.2:c.168A>G, NM_001349556.1:c.168A>G, NM_001349562.2:c.-591A>G, NM_001349562.1:c.-591A>G, NM_001349563.2:c.-591A>G, NM_001349563.1:c.-591A>G, NM_001349559.2:c.168A>G, NM_001349559.1:c.168A>G, NM_001291957.2:c.168A>G, NM_001291957.1:c.168A>G, NM_001349560.2:c.168A>G, NM_001349560.1:c.168A>G, NM_001349561.2:c.168A>G, NM_001349561.1:c.168A>G

                                      19.

                                      rs1474813832 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        5:19473231 (GRCh38)
                                        5:19473340 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:19473230:TT:T
                                        Gene:
                                        CDH18 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TT=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.19473232del, NC_000005.9:g.19473341del, XM_005248228.5:c.2368del, XM_005248228.4:c.2368del, XM_005248228.3:c.2368del, XM_005248228.2:c.2368del, XM_005248228.1:c.2368del, NM_004934.5:c.2368del, NM_004934.4:c.2368del, NM_004934.3:c.2368del, XM_006714435.5:c.2368del, XM_006714435.4:c.2368del, XM_006714435.3:c.2368del, XM_006714435.2:c.2368del, XM_006714435.1:c.2368del, XM_017008928.3:c.2368del, XM_017008928.2:c.2368del, XM_017008928.1:c.2368del, NM_001291956.3:c.2368del, NM_001291956.2:c.2368del, NM_001291956.1:c.2368del, XM_017008926.3:c.2368del, XM_017008926.2:c.2368del, XM_017008926.1:c.2368del, XM_017008924.3:c.2368del, XM_017008924.2:c.2368del, XM_017008924.1:c.2368del, XM_017008927.3:c.2368del, XM_017008927.2:c.2368del, XM_017008927.1:c.2368del, XM_017008929.3:c.2368del, XM_017008929.2:c.2368del, XM_017008929.1:c.2368del, NM_001167667.3:c.*534del, NM_001167667.2:c.*534del, NM_001167667.1:c.*534del, XM_017008930.3:c.2368del, XM_017008930.2:c.2368del, XM_017008930.1:c.2368del, NM_001349558.2:c.2368del, NM_001349558.1:c.2368del, NM_001349556.2:c.2368del, NM_001349556.1:c.2368del, NM_001349562.2:c.1699del, NM_001349562.1:c.1699del, NM_001349563.2:c.1699del, NM_001349563.1:c.1699del, NM_001349559.2:c.2368del, NM_001349559.1:c.2368del, NM_001291957.2:c.*534del, NM_001291957.1:c.*534del, NM_001349560.2:c.*534del, NM_001349560.1:c.*534del, NM_001349561.2:c.*534del, NM_001349561.1:c.*534del, XP_005248285.1:p.Thr790fs, NP_004925.1:p.Thr790fs, XP_006714498.1:p.Thr790fs, XP_016864417.1:p.Thr790fs, NP_001278885.1:p.Thr790fs, XP_016864415.1:p.Thr790fs, XP_016864413.1:p.Thr790fs, XP_016864416.1:p.Thr790fs, XP_016864418.1:p.Thr790fs, XP_016864419.1:p.Thr790fs, NP_001336487.1:p.Thr790fs, NP_001336485.1:p.Thr790fs, NP_001336491.1:p.Thr567fs, NP_001336492.1:p.Thr567fs, NP_001336488.1:p.Thr790fs

                                        20.

                                        rs1474669979 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:19483496 (GRCh38)
                                          5:19483605 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:19483495:C:T
                                          Gene:
                                          CDH18 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000005.10:g.19483496C>T, NC_000005.9:g.19483605C>T, XM_005248228.5:c.1687G>A, XM_005248228.4:c.1687G>A, XM_005248228.3:c.1687G>A, XM_005248228.2:c.1687G>A, XM_005248228.1:c.1687G>A, NM_004934.5:c.1687G>A, NM_004934.4:c.1687G>A, NM_004934.3:c.1687G>A, XM_006714435.5:c.1687G>A, XM_006714435.4:c.1687G>A, XM_006714435.3:c.1687G>A, XM_006714435.2:c.1687G>A, XM_006714435.1:c.1687G>A, XM_017008928.3:c.1687G>A, XM_017008928.2:c.1687G>A, XM_017008928.1:c.1687G>A, NM_001291956.3:c.1687G>A, NM_001291956.2:c.1687G>A, NM_001291956.1:c.1687G>A, XM_017008926.3:c.1687G>A, XM_017008926.2:c.1687G>A, XM_017008926.1:c.1687G>A, XM_017008924.3:c.1687G>A, XM_017008924.2:c.1687G>A, XM_017008924.1:c.1687G>A, XM_017008927.3:c.1687G>A, XM_017008927.2:c.1687G>A, XM_017008927.1:c.1687G>A, XM_017008929.3:c.1687G>A, XM_017008929.2:c.1687G>A, XM_017008929.1:c.1687G>A, XM_017008930.3:c.1687G>A, XM_017008930.2:c.1687G>A, XM_017008930.1:c.1687G>A, NM_001349558.2:c.1687G>A, NM_001349558.1:c.1687G>A, NM_001349556.2:c.1687G>A, NM_001349556.1:c.1687G>A, NM_001349562.2:c.1018G>A, NM_001349562.1:c.1018G>A, NM_001349563.2:c.1018G>A, NM_001349563.1:c.1018G>A, NM_001349559.2:c.1687G>A, NM_001349559.1:c.1687G>A, XP_005248285.1:p.Val563Met, NP_004925.1:p.Val563Met, XP_006714498.1:p.Val563Met, XP_016864417.1:p.Val563Met, NP_001278885.1:p.Val563Met, XP_016864415.1:p.Val563Met, XP_016864413.1:p.Val563Met, XP_016864416.1:p.Val563Met, XP_016864418.1:p.Val563Met, XP_016864419.1:p.Val563Met, NP_001336487.1:p.Val563Met, NP_001336485.1:p.Val563Met, NP_001336491.1:p.Val340Met, NP_001336492.1:p.Val340Met, NP_001336488.1:p.Val563Met

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...