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Items: 1 to 20 of 408

1.

rs1489172982 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:125305131 (GRCh38)
    9:128067410 (GRCh37)
    Canonical SPDI:
    NC_000009.12:125305130:C:T
    Gene:
    GAPVD1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.125305131C>T, NC_000009.11:g.128067410C>T, NM_015635.4:c.1098C>T, NM_015635.3:c.1098C>T, NM_015635.2:c.1098C>T, XM_005251904.4:c.1098C>T, XM_005251904.3:c.1098C>T, XM_005251904.2:c.1098C>T, XM_005251904.1:c.1098C>T, XM_011518500.3:c.1098C>T, XM_011518500.2:c.1098C>T, XM_011518500.1:c.1098C>T, NM_001282680.3:c.1098C>T, NM_001282680.2:c.1098C>T, NM_001282680.1:c.1098C>T, XM_011518499.3:c.1098C>T, XM_011518499.2:c.1098C>T, XM_011518499.1:c.1098C>T, XM_011518506.3:c.1098C>T, XM_011518506.2:c.1098C>T, XM_011518506.1:c.1098C>T, XM_011518507.3:c.1098C>T, XM_011518507.2:c.1098C>T, XM_011518507.1:c.1098C>T, NM_001282681.3:c.1098C>T, NM_001282681.2:c.1098C>T, NM_001282681.1:c.1098C>T, NM_001330778.3:c.1098C>T, NM_001330778.2:c.1098C>T, NM_001330778.1:c.1098C>T, NM_001330777.3:c.1098C>T, NM_001330777.2:c.1098C>T, NM_001330777.1:c.1098C>T, NM_001354299.2:c.1098C>T, NM_001354299.1:c.1098C>T, NM_001282679.2:c.1098C>T, NM_001282679.1:c.1098C>T, NM_001354296.2:c.1098C>T, NM_001354296.1:c.1098C>T, NM_001354301.2:c.1098C>T, NM_001354301.1:c.1098C>T, NM_001354297.2:c.1098C>T, NM_001354297.1:c.1098C>T, XM_017014606.2:c.1098C>T, XM_017014606.1:c.1098C>T, XM_017014609.2:c.1098C>T, XM_017014609.1:c.1098C>T, NR_148732.2:n.1463C>T, NR_148732.1:n.1495C>T, NM_001354295.2:c.1098C>T, NM_001354295.1:c.1098C>T, NR_148733.2:n.1313C>T, NR_148733.1:n.1345C>T, NM_001354298.2:c.1098C>T, NM_001354298.1:c.1098C>T, NM_001354294.2:c.1098C>T, NM_001354294.1:c.1098C>T, NM_001354300.2:c.1098C>T, NM_001354300.1:c.1098C>T, NM_001354293.2:c.1098C>T, NM_001354293.1:c.1098C>T, XM_047423182.1:c.1098C>T, XM_047423180.1:c.1098C>T, XM_047423193.1:c.1098C>T, XM_047423189.1:c.1098C>T, XM_047423181.1:c.1098C>T, XM_047423200.1:c.1098C>T, XM_047423194.1:c.1098C>T, XM_047423177.1:c.1098C>T, XM_047423205.1:c.1098C>T, XM_047423179.1:c.1098C>T, XM_047423186.1:c.1098C>T, XM_047423178.1:c.1098C>T, XM_047423187.1:c.1098C>T, XM_047423185.1:c.1098C>T, XM_047423207.1:c.1098C>T, XM_047423192.1:c.1098C>T, XM_047423190.1:c.1098C>T, XM_047423188.1:c.1098C>T, XM_047423195.1:c.1098C>T, XM_047423191.1:c.1098C>T, XM_047423202.1:c.1098C>T, XM_047423198.1:c.1098C>T, XM_047423201.1:c.1098C>T, XM_047423196.1:c.1098C>T, XM_047423183.1:c.1098C>T, XM_047423197.1:c.1098C>T, XM_047423208.1:c.1098C>T, XM_047423203.1:c.1098C>T, XM_047423184.1:c.1098C>T, XM_047423209.1:c.1098C>T, XM_047423199.1:c.1098C>T, XM_047423204.1:c.1098C>T, XM_047423206.1:c.1098C>T

    2.

    rs1477914321 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      9:125302540 (GRCh38)
      9:128064819 (GRCh37)
      Canonical SPDI:
      NC_000009.12:125302539:A:C
      Gene:
      GAPVD1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.125302540A>C, NC_000009.11:g.128064819A>C, NM_015635.4:c.743A>C, NM_015635.3:c.743A>C, NM_015635.2:c.743A>C, XM_005251904.4:c.743A>C, XM_005251904.3:c.743A>C, XM_005251904.2:c.743A>C, XM_005251904.1:c.743A>C, XM_011518500.3:c.743A>C, XM_011518500.2:c.743A>C, XM_011518500.1:c.743A>C, NM_001282680.3:c.743A>C, NM_001282680.2:c.743A>C, NM_001282680.1:c.743A>C, XM_011518499.3:c.743A>C, XM_011518499.2:c.743A>C, XM_011518499.1:c.743A>C, XM_011518506.3:c.743A>C, XM_011518506.2:c.743A>C, XM_011518506.1:c.743A>C, XM_011518507.3:c.743A>C, XM_011518507.2:c.743A>C, XM_011518507.1:c.743A>C, NM_001282681.3:c.743A>C, NM_001282681.2:c.743A>C, NM_001282681.1:c.743A>C, NM_001330778.3:c.743A>C, NM_001330778.2:c.743A>C, NM_001330778.1:c.743A>C, NM_001330777.3:c.743A>C, NM_001330777.2:c.743A>C, NM_001330777.1:c.743A>C, NM_001354299.2:c.743A>C, NM_001354299.1:c.743A>C, NM_001282679.2:c.743A>C, NM_001282679.1:c.743A>C, NM_001354296.2:c.743A>C, NM_001354296.1:c.743A>C, NM_001354301.2:c.743A>C, NM_001354301.1:c.743A>C, NM_001354297.2:c.743A>C, NM_001354297.1:c.743A>C, XM_017014606.2:c.743A>C, XM_017014606.1:c.743A>C, XM_017014609.2:c.743A>C, XM_017014609.1:c.743A>C, NR_148732.2:n.1108A>C, NR_148732.1:n.1140A>C, NM_001354295.2:c.743A>C, NM_001354295.1:c.743A>C, NR_148733.2:n.958A>C, NR_148733.1:n.990A>C, NM_001354298.2:c.743A>C, NM_001354298.1:c.743A>C, NM_001354294.2:c.743A>C, NM_001354294.1:c.743A>C, NM_001354300.2:c.743A>C, NM_001354300.1:c.743A>C, NM_001354293.2:c.743A>C, NM_001354293.1:c.743A>C, XM_047423182.1:c.743A>C, XM_047423180.1:c.743A>C, XM_047423193.1:c.743A>C, XM_047423189.1:c.743A>C, XM_047423181.1:c.743A>C, XM_047423200.1:c.743A>C, XM_047423194.1:c.743A>C, XM_047423177.1:c.743A>C, XM_047423205.1:c.743A>C, XM_047423179.1:c.743A>C, XM_047423186.1:c.743A>C, XM_047423178.1:c.743A>C, XM_047423187.1:c.743A>C, XM_047423185.1:c.743A>C, XM_047423207.1:c.743A>C, XM_047423192.1:c.743A>C, XM_047423190.1:c.743A>C, XM_047423188.1:c.743A>C, XM_047423195.1:c.743A>C, XM_047423191.1:c.743A>C, XM_047423202.1:c.743A>C, XM_047423198.1:c.743A>C, XM_047423201.1:c.743A>C, XM_047423196.1:c.743A>C, XM_047423183.1:c.743A>C, XM_047423197.1:c.743A>C, XM_047423208.1:c.743A>C, XM_047423203.1:c.743A>C, XM_047423184.1:c.743A>C, XM_047423209.1:c.743A>C, XM_047423199.1:c.743A>C, XM_047423204.1:c.743A>C, XM_047423206.1:c.743A>C, NP_056450.2:p.Gln248Pro, XP_005251961.1:p.Gln248Pro, XP_011516802.1:p.Gln248Pro, NP_001269609.1:p.Gln248Pro, XP_011516801.1:p.Gln248Pro, XP_011516808.1:p.Gln248Pro, XP_011516809.1:p.Gln248Pro, NP_001269610.1:p.Gln248Pro, NP_001317707.1:p.Gln248Pro, NP_001317706.1:p.Gln248Pro, NP_001341228.1:p.Gln248Pro, NP_001269608.1:p.Gln248Pro, NP_001341225.1:p.Gln248Pro, NP_001341230.1:p.Gln248Pro, NP_001341226.1:p.Gln248Pro, XP_016870095.1:p.Gln248Pro, XP_016870098.1:p.Gln248Pro, NP_001341224.1:p.Gln248Pro, NP_001341227.1:p.Gln248Pro, NP_001341223.1:p.Gln248Pro, NP_001341229.1:p.Gln248Pro, NP_001341222.1:p.Gln248Pro, XP_047279138.1:p.Gln248Pro, XP_047279136.1:p.Gln248Pro, XP_047279149.1:p.Gln248Pro, XP_047279145.1:p.Gln248Pro, XP_047279137.1:p.Gln248Pro, XP_047279156.1:p.Gln248Pro, XP_047279150.1:p.Gln248Pro, XP_047279133.1:p.Gln248Pro, XP_047279161.1:p.Gln248Pro, XP_047279135.1:p.Gln248Pro, XP_047279142.1:p.Gln248Pro, XP_047279134.1:p.Gln248Pro, XP_047279143.1:p.Gln248Pro, XP_047279141.1:p.Gln248Pro, XP_047279163.1:p.Gln248Pro, XP_047279148.1:p.Gln248Pro, XP_047279146.1:p.Gln248Pro, XP_047279144.1:p.Gln248Pro, XP_047279151.1:p.Gln248Pro, XP_047279147.1:p.Gln248Pro, XP_047279158.1:p.Gln248Pro, XP_047279154.1:p.Gln248Pro, XP_047279157.1:p.Gln248Pro, XP_047279152.1:p.Gln248Pro, XP_047279139.1:p.Gln248Pro, XP_047279153.1:p.Gln248Pro, XP_047279164.1:p.Gln248Pro, XP_047279159.1:p.Gln248Pro, XP_047279140.1:p.Gln248Pro, XP_047279165.1:p.Gln248Pro, XP_047279155.1:p.Gln248Pro, XP_047279160.1:p.Gln248Pro, XP_047279162.1:p.Gln248Pro

      3.

      rs1476937254 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:125305070 (GRCh38)
        9:128067349 (GRCh37)
        Canonical SPDI:
        NC_000009.12:125305069:G:A
        Gene:
        GAPVD1 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.125305070G>A, NC_000009.11:g.128067349G>A, NM_015635.4:c.1037G>A, NM_015635.3:c.1037G>A, NM_015635.2:c.1037G>A, XM_005251904.4:c.1037G>A, XM_005251904.3:c.1037G>A, XM_005251904.2:c.1037G>A, XM_005251904.1:c.1037G>A, XM_011518500.3:c.1037G>A, XM_011518500.2:c.1037G>A, XM_011518500.1:c.1037G>A, NM_001282680.3:c.1037G>A, NM_001282680.2:c.1037G>A, NM_001282680.1:c.1037G>A, XM_011518499.3:c.1037G>A, XM_011518499.2:c.1037G>A, XM_011518499.1:c.1037G>A, XM_011518506.3:c.1037G>A, XM_011518506.2:c.1037G>A, XM_011518506.1:c.1037G>A, XM_011518507.3:c.1037G>A, XM_011518507.2:c.1037G>A, XM_011518507.1:c.1037G>A, NM_001282681.3:c.1037G>A, NM_001282681.2:c.1037G>A, NM_001282681.1:c.1037G>A, NM_001330778.3:c.1037G>A, NM_001330778.2:c.1037G>A, NM_001330778.1:c.1037G>A, NM_001330777.3:c.1037G>A, NM_001330777.2:c.1037G>A, NM_001330777.1:c.1037G>A, NM_001354299.2:c.1037G>A, NM_001354299.1:c.1037G>A, NM_001282679.2:c.1037G>A, NM_001282679.1:c.1037G>A, NM_001354296.2:c.1037G>A, NM_001354296.1:c.1037G>A, NM_001354301.2:c.1037G>A, NM_001354301.1:c.1037G>A, NM_001354297.2:c.1037G>A, NM_001354297.1:c.1037G>A, XM_017014606.2:c.1037G>A, XM_017014606.1:c.1037G>A, XM_017014609.2:c.1037G>A, XM_017014609.1:c.1037G>A, NR_148732.2:n.1402G>A, NR_148732.1:n.1434G>A, NM_001354295.2:c.1037G>A, NM_001354295.1:c.1037G>A, NR_148733.2:n.1252G>A, NR_148733.1:n.1284G>A, NM_001354298.2:c.1037G>A, NM_001354298.1:c.1037G>A, NM_001354294.2:c.1037G>A, NM_001354294.1:c.1037G>A, NM_001354300.2:c.1037G>A, NM_001354300.1:c.1037G>A, NM_001354293.2:c.1037G>A, NM_001354293.1:c.1037G>A, XM_047423182.1:c.1037G>A, XM_047423180.1:c.1037G>A, XM_047423193.1:c.1037G>A, XM_047423189.1:c.1037G>A, XM_047423181.1:c.1037G>A, XM_047423200.1:c.1037G>A, XM_047423194.1:c.1037G>A, XM_047423177.1:c.1037G>A, XM_047423205.1:c.1037G>A, XM_047423179.1:c.1037G>A, XM_047423186.1:c.1037G>A, XM_047423178.1:c.1037G>A, XM_047423187.1:c.1037G>A, XM_047423185.1:c.1037G>A, XM_047423207.1:c.1037G>A, XM_047423192.1:c.1037G>A, XM_047423190.1:c.1037G>A, XM_047423188.1:c.1037G>A, XM_047423195.1:c.1037G>A, XM_047423191.1:c.1037G>A, XM_047423202.1:c.1037G>A, XM_047423198.1:c.1037G>A, XM_047423201.1:c.1037G>A, XM_047423196.1:c.1037G>A, XM_047423183.1:c.1037G>A, XM_047423197.1:c.1037G>A, XM_047423208.1:c.1037G>A, XM_047423203.1:c.1037G>A, XM_047423184.1:c.1037G>A, XM_047423209.1:c.1037G>A, XM_047423199.1:c.1037G>A, XM_047423204.1:c.1037G>A, XM_047423206.1:c.1037G>A, NP_056450.2:p.Arg346His, XP_005251961.1:p.Arg346His, XP_011516802.1:p.Arg346His, NP_001269609.1:p.Arg346His, XP_011516801.1:p.Arg346His, XP_011516808.1:p.Arg346His, XP_011516809.1:p.Arg346His, NP_001269610.1:p.Arg346His, NP_001317707.1:p.Arg346His, NP_001317706.1:p.Arg346His, NP_001341228.1:p.Arg346His, NP_001269608.1:p.Arg346His, NP_001341225.1:p.Arg346His, NP_001341230.1:p.Arg346His, NP_001341226.1:p.Arg346His, XP_016870095.1:p.Arg346His, XP_016870098.1:p.Arg346His, NP_001341224.1:p.Arg346His, NP_001341227.1:p.Arg346His, NP_001341223.1:p.Arg346His, NP_001341229.1:p.Arg346His, NP_001341222.1:p.Arg346His, XP_047279138.1:p.Arg346His, XP_047279136.1:p.Arg346His, XP_047279149.1:p.Arg346His, XP_047279145.1:p.Arg346His, XP_047279137.1:p.Arg346His, XP_047279156.1:p.Arg346His, XP_047279150.1:p.Arg346His, XP_047279133.1:p.Arg346His, XP_047279161.1:p.Arg346His, XP_047279135.1:p.Arg346His, XP_047279142.1:p.Arg346His, XP_047279134.1:p.Arg346His, XP_047279143.1:p.Arg346His, XP_047279141.1:p.Arg346His, XP_047279163.1:p.Arg346His, XP_047279148.1:p.Arg346His, XP_047279146.1:p.Arg346His, XP_047279144.1:p.Arg346His, XP_047279151.1:p.Arg346His, XP_047279147.1:p.Arg346His, XP_047279158.1:p.Arg346His, XP_047279154.1:p.Arg346His, XP_047279157.1:p.Arg346His, XP_047279152.1:p.Arg346His, XP_047279139.1:p.Arg346His, XP_047279153.1:p.Arg346His, XP_047279164.1:p.Arg346His, XP_047279159.1:p.Arg346His, XP_047279140.1:p.Arg346His, XP_047279165.1:p.Arg346His, XP_047279155.1:p.Arg346His, XP_047279160.1:p.Arg346His, XP_047279162.1:p.Arg346His

        4.

        rs1475951532 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:125298944 (GRCh38)
          9:128061223 (GRCh37)
          Canonical SPDI:
          NC_000009.12:125298943:C:G,NC_000009.12:125298943:C:T
          Gene:
          GAPVD1 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.125298944C>G, NC_000009.12:g.125298944C>T, NC_000009.11:g.128061223C>G, NC_000009.11:g.128061223C>T, NM_015635.4:c.23C>G, NM_015635.4:c.23C>T, NM_015635.3:c.23C>G, NM_015635.3:c.23C>T, NM_015635.2:c.23C>G, NM_015635.2:c.23C>T, XM_005251904.4:c.23C>G, XM_005251904.4:c.23C>T, XM_005251904.3:c.23C>G, XM_005251904.3:c.23C>T, XM_005251904.2:c.23C>G, XM_005251904.2:c.23C>T, XM_005251904.1:c.23C>G, XM_005251904.1:c.23C>T, XM_011518500.3:c.23C>G, XM_011518500.3:c.23C>T, XM_011518500.2:c.23C>G, XM_011518500.2:c.23C>T, XM_011518500.1:c.23C>G, XM_011518500.1:c.23C>T, NM_001282680.3:c.23C>G, NM_001282680.3:c.23C>T, NM_001282680.2:c.23C>G, NM_001282680.2:c.23C>T, NM_001282680.1:c.23C>G, NM_001282680.1:c.23C>T, XM_011518499.3:c.23C>G, XM_011518499.3:c.23C>T, XM_011518499.2:c.23C>G, XM_011518499.2:c.23C>T, XM_011518499.1:c.23C>G, XM_011518499.1:c.23C>T, XM_011518506.3:c.23C>G, XM_011518506.3:c.23C>T, XM_011518506.2:c.23C>G, XM_011518506.2:c.23C>T, XM_011518506.1:c.23C>G, XM_011518506.1:c.23C>T, XM_011518507.3:c.23C>G, XM_011518507.3:c.23C>T, XM_011518507.2:c.23C>G, XM_011518507.2:c.23C>T, XM_011518507.1:c.23C>G, XM_011518507.1:c.23C>T, NM_001282681.3:c.23C>G, NM_001282681.3:c.23C>T, NM_001282681.2:c.23C>G, NM_001282681.2:c.23C>T, NM_001282681.1:c.23C>G, NM_001282681.1:c.23C>T, NM_001330778.3:c.23C>G, NM_001330778.3:c.23C>T, NM_001330778.2:c.23C>G, NM_001330778.2:c.23C>T, NM_001330778.1:c.23C>G, NM_001330778.1:c.23C>T, NM_001330777.3:c.23C>G, NM_001330777.3:c.23C>T, NM_001330777.2:c.23C>G, NM_001330777.2:c.23C>T, NM_001330777.1:c.23C>G, NM_001330777.1:c.23C>T, NM_001354299.2:c.23C>G, NM_001354299.2:c.23C>T, NM_001354299.1:c.23C>G, NM_001354299.1:c.23C>T, NM_001282679.2:c.23C>G, NM_001282679.2:c.23C>T, NM_001282679.1:c.23C>G, NM_001282679.1:c.23C>T, NM_001354296.2:c.23C>G, NM_001354296.2:c.23C>T, NM_001354296.1:c.23C>G, NM_001354296.1:c.23C>T, NM_001354301.2:c.23C>G, NM_001354301.2:c.23C>T, NM_001354301.1:c.23C>G, NM_001354301.1:c.23C>T, NM_001354297.2:c.23C>G, NM_001354297.2:c.23C>T, NM_001354297.1:c.23C>G, NM_001354297.1:c.23C>T, XM_017014606.2:c.23C>G, XM_017014606.2:c.23C>T, XM_017014606.1:c.23C>G, XM_017014606.1:c.23C>T, XM_017014609.2:c.23C>G, XM_017014609.2:c.23C>T, XM_017014609.1:c.23C>G, XM_017014609.1:c.23C>T, NR_148732.2:n.388C>G, NR_148732.2:n.388C>T, NR_148732.1:n.420C>G, NR_148732.1:n.420C>T, NM_001354295.2:c.23C>G, NM_001354295.2:c.23C>T, NM_001354295.1:c.23C>G, NM_001354295.1:c.23C>T, NR_148733.2:n.238C>G, NR_148733.2:n.238C>T, NR_148733.1:n.270C>G, NR_148733.1:n.270C>T, NM_001354298.2:c.23C>G, NM_001354298.2:c.23C>T, NM_001354298.1:c.23C>G, NM_001354298.1:c.23C>T, NM_001354294.2:c.23C>G, NM_001354294.2:c.23C>T, NM_001354294.1:c.23C>G, NM_001354294.1:c.23C>T, NM_001354300.2:c.23C>G, NM_001354300.2:c.23C>T, NM_001354300.1:c.23C>G, NM_001354300.1:c.23C>T, NM_001354293.2:c.23C>G, NM_001354293.2:c.23C>T, NM_001354293.1:c.23C>G, NM_001354293.1:c.23C>T, XM_047423182.1:c.23C>G, XM_047423182.1:c.23C>T, XM_047423180.1:c.23C>G, XM_047423180.1:c.23C>T, XM_047423193.1:c.23C>G, XM_047423193.1:c.23C>T, XM_047423189.1:c.23C>G, XM_047423189.1:c.23C>T, XM_047423181.1:c.23C>G, XM_047423181.1:c.23C>T, XM_047423200.1:c.23C>G, XM_047423200.1:c.23C>T, XM_047423194.1:c.23C>G, XM_047423194.1:c.23C>T, XM_047423177.1:c.23C>G, XM_047423177.1:c.23C>T, XM_047423205.1:c.23C>G, XM_047423205.1:c.23C>T, XM_047423179.1:c.23C>G, XM_047423179.1:c.23C>T, XM_047423186.1:c.23C>G, XM_047423186.1:c.23C>T, XM_047423178.1:c.23C>G, XM_047423178.1:c.23C>T, XM_047423187.1:c.23C>G, XM_047423187.1:c.23C>T, XM_047423185.1:c.23C>G, XM_047423185.1:c.23C>T, XM_047423207.1:c.23C>G, XM_047423207.1:c.23C>T, XM_047423192.1:c.23C>G, XM_047423192.1:c.23C>T, XM_047423190.1:c.23C>G, XM_047423190.1:c.23C>T, XM_047423188.1:c.23C>G, XM_047423188.1:c.23C>T, XM_047423195.1:c.23C>G, XM_047423195.1:c.23C>T, XM_047423191.1:c.23C>G, XM_047423191.1:c.23C>T, XM_047423202.1:c.23C>G, XM_047423202.1:c.23C>T, XM_047423198.1:c.23C>G, XM_047423198.1:c.23C>T, XM_047423201.1:c.23C>G, XM_047423201.1:c.23C>T, XM_047423196.1:c.23C>G, XM_047423196.1:c.23C>T, XM_047423183.1:c.23C>G, XM_047423183.1:c.23C>T, XM_047423197.1:c.23C>G, XM_047423197.1:c.23C>T, XM_047423208.1:c.23C>G, XM_047423208.1:c.23C>T, XM_047423203.1:c.23C>G, XM_047423203.1:c.23C>T, XM_047423184.1:c.23C>G, XM_047423184.1:c.23C>T, XM_047423209.1:c.23C>G, XM_047423209.1:c.23C>T, XM_047423199.1:c.23C>G, XM_047423199.1:c.23C>T, XM_047423204.1:c.23C>G, XM_047423204.1:c.23C>T, XM_047423206.1:c.23C>G, XM_047423206.1:c.23C>T, NP_056450.2:p.Thr8Ser, NP_056450.2:p.Thr8Ile, XP_005251961.1:p.Thr8Ser, XP_005251961.1:p.Thr8Ile, XP_011516802.1:p.Thr8Ser, XP_011516802.1:p.Thr8Ile, NP_001269609.1:p.Thr8Ser, NP_001269609.1:p.Thr8Ile, XP_011516801.1:p.Thr8Ser, XP_011516801.1:p.Thr8Ile, XP_011516808.1:p.Thr8Ser, XP_011516808.1:p.Thr8Ile, XP_011516809.1:p.Thr8Ser, XP_011516809.1:p.Thr8Ile, NP_001269610.1:p.Thr8Ser, NP_001269610.1:p.Thr8Ile, NP_001317707.1:p.Thr8Ser, NP_001317707.1:p.Thr8Ile, NP_001317706.1:p.Thr8Ser, NP_001317706.1:p.Thr8Ile, NP_001341228.1:p.Thr8Ser, NP_001341228.1:p.Thr8Ile, NP_001269608.1:p.Thr8Ser, NP_001269608.1:p.Thr8Ile, NP_001341225.1:p.Thr8Ser, NP_001341225.1:p.Thr8Ile, NP_001341230.1:p.Thr8Ser, NP_001341230.1:p.Thr8Ile, NP_001341226.1:p.Thr8Ser, NP_001341226.1:p.Thr8Ile, XP_016870095.1:p.Thr8Ser, XP_016870095.1:p.Thr8Ile, XP_016870098.1:p.Thr8Ser, XP_016870098.1:p.Thr8Ile, NP_001341224.1:p.Thr8Ser, NP_001341224.1:p.Thr8Ile, NP_001341227.1:p.Thr8Ser, NP_001341227.1:p.Thr8Ile, NP_001341223.1:p.Thr8Ser, NP_001341223.1:p.Thr8Ile, NP_001341229.1:p.Thr8Ser, NP_001341229.1:p.Thr8Ile, NP_001341222.1:p.Thr8Ser, NP_001341222.1:p.Thr8Ile, XP_047279138.1:p.Thr8Ser, XP_047279138.1:p.Thr8Ile, XP_047279136.1:p.Thr8Ser, XP_047279136.1:p.Thr8Ile, XP_047279149.1:p.Thr8Ser, XP_047279149.1:p.Thr8Ile, XP_047279145.1:p.Thr8Ser, XP_047279145.1:p.Thr8Ile, XP_047279137.1:p.Thr8Ser, XP_047279137.1:p.Thr8Ile, XP_047279156.1:p.Thr8Ser, XP_047279156.1:p.Thr8Ile, XP_047279150.1:p.Thr8Ser, XP_047279150.1:p.Thr8Ile, XP_047279133.1:p.Thr8Ser, XP_047279133.1:p.Thr8Ile, XP_047279161.1:p.Thr8Ser, XP_047279161.1:p.Thr8Ile, XP_047279135.1:p.Thr8Ser, XP_047279135.1:p.Thr8Ile, XP_047279142.1:p.Thr8Ser, XP_047279142.1:p.Thr8Ile, XP_047279134.1:p.Thr8Ser, XP_047279134.1:p.Thr8Ile, XP_047279143.1:p.Thr8Ser, XP_047279143.1:p.Thr8Ile, XP_047279141.1:p.Thr8Ser, XP_047279141.1:p.Thr8Ile, XP_047279163.1:p.Thr8Ser, XP_047279163.1:p.Thr8Ile, XP_047279148.1:p.Thr8Ser, XP_047279148.1:p.Thr8Ile, XP_047279146.1:p.Thr8Ser, XP_047279146.1:p.Thr8Ile, XP_047279144.1:p.Thr8Ser, XP_047279144.1:p.Thr8Ile, XP_047279151.1:p.Thr8Ser, XP_047279151.1:p.Thr8Ile, XP_047279147.1:p.Thr8Ser, XP_047279147.1:p.Thr8Ile, XP_047279158.1:p.Thr8Ser, XP_047279158.1:p.Thr8Ile, XP_047279154.1:p.Thr8Ser, XP_047279154.1:p.Thr8Ile, XP_047279157.1:p.Thr8Ser, XP_047279157.1:p.Thr8Ile, XP_047279152.1:p.Thr8Ser, XP_047279152.1:p.Thr8Ile, XP_047279139.1:p.Thr8Ser, XP_047279139.1:p.Thr8Ile, XP_047279153.1:p.Thr8Ser, XP_047279153.1:p.Thr8Ile, XP_047279164.1:p.Thr8Ser, XP_047279164.1:p.Thr8Ile, XP_047279159.1:p.Thr8Ser, XP_047279159.1:p.Thr8Ile, XP_047279140.1:p.Thr8Ser, XP_047279140.1:p.Thr8Ile, XP_047279165.1:p.Thr8Ser, XP_047279165.1:p.Thr8Ile, XP_047279155.1:p.Thr8Ser, XP_047279155.1:p.Thr8Ile, XP_047279160.1:p.Thr8Ser, XP_047279160.1:p.Thr8Ile, XP_047279162.1:p.Thr8Ser, XP_047279162.1:p.Thr8Ile

          5.

          rs1473465056 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            9:125307816 (GRCh38)
            9:128070095 (GRCh37)
            Canonical SPDI:
            NC_000009.12:125307815:C:G
            Gene:
            GAPVD1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.125307816C>G, NC_000009.11:g.128070095C>G, NM_015635.4:c.1377C>G, NM_015635.3:c.1377C>G, NM_015635.2:c.1377C>G, XM_005251904.4:c.1377C>G, XM_005251904.3:c.1377C>G, XM_005251904.2:c.1377C>G, XM_005251904.1:c.1377C>G, XM_011518500.3:c.1377C>G, XM_011518500.2:c.1377C>G, XM_011518500.1:c.1377C>G, NM_001282680.3:c.1377C>G, NM_001282680.2:c.1377C>G, NM_001282680.1:c.1377C>G, XM_011518499.3:c.1377C>G, XM_011518499.2:c.1377C>G, XM_011518499.1:c.1377C>G, XM_011518506.3:c.1377C>G, XM_011518506.2:c.1377C>G, XM_011518506.1:c.1377C>G, XM_011518507.3:c.1377C>G, XM_011518507.2:c.1377C>G, XM_011518507.1:c.1377C>G, NM_001282681.3:c.1377C>G, NM_001282681.2:c.1377C>G, NM_001282681.1:c.1377C>G, NM_001330778.3:c.1377C>G, NM_001330778.2:c.1377C>G, NM_001330778.1:c.1377C>G, NM_001330777.3:c.1377C>G, NM_001330777.2:c.1377C>G, NM_001330777.1:c.1377C>G, NM_001354299.2:c.1377C>G, NM_001354299.1:c.1377C>G, NM_001282679.2:c.1377C>G, NM_001282679.1:c.1377C>G, NM_001354296.2:c.1377C>G, NM_001354296.1:c.1377C>G, NM_001354301.2:c.1377C>G, NM_001354301.1:c.1377C>G, NM_001354297.2:c.1377C>G, NM_001354297.1:c.1377C>G, XM_017014606.2:c.1377C>G, XM_017014606.1:c.1377C>G, XM_017014609.2:c.1377C>G, XM_017014609.1:c.1377C>G, NR_148732.2:n.1742C>G, NR_148732.1:n.1774C>G, NM_001354295.2:c.1377C>G, NM_001354295.1:c.1377C>G, NR_148733.2:n.1592C>G, NR_148733.1:n.1624C>G, NM_001354298.2:c.1377C>G, NM_001354298.1:c.1377C>G, NM_001354294.2:c.1377C>G, NM_001354294.1:c.1377C>G, NM_001354300.2:c.1377C>G, NM_001354300.1:c.1377C>G, NM_001354293.2:c.1377C>G, NM_001354293.1:c.1377C>G, XM_047423182.1:c.1377C>G, XM_047423180.1:c.1377C>G, XM_047423193.1:c.1377C>G, XM_047423189.1:c.1377C>G, XM_047423181.1:c.1377C>G, XM_047423200.1:c.1377C>G, XM_047423194.1:c.1377C>G, XM_047423177.1:c.1377C>G, XM_047423205.1:c.1377C>G, XM_047423179.1:c.1377C>G, XM_047423186.1:c.1377C>G, XM_047423178.1:c.1377C>G, XM_047423187.1:c.1377C>G, XM_047423185.1:c.1377C>G, XM_047423207.1:c.1377C>G, XM_047423192.1:c.1377C>G, XM_047423190.1:c.1377C>G, XM_047423188.1:c.1377C>G, XM_047423195.1:c.1377C>G, XM_047423191.1:c.1377C>G, XM_047423202.1:c.1377C>G, XM_047423198.1:c.1377C>G, XM_047423201.1:c.1377C>G, XM_047423196.1:c.1377C>G, XM_047423183.1:c.1377C>G, XM_047423197.1:c.1377C>G, XM_047423208.1:c.1377C>G, XM_047423203.1:c.1377C>G, XM_047423184.1:c.1377C>G, XM_047423209.1:c.1377C>G, XM_047423199.1:c.1377C>G, XM_047423204.1:c.1377C>G, XM_047423206.1:c.1377C>G

            6.

            rs1470540527 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              9:125302432 (GRCh38)
              9:128064711 (GRCh37)
              Canonical SPDI:
              NC_000009.12:125302431:A:C
              Gene:
              GAPVD1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000009.12:g.125302432A>C, NC_000009.11:g.128064711A>C, NM_015635.4:c.635A>C, NM_015635.3:c.635A>C, NM_015635.2:c.635A>C, XM_005251904.4:c.635A>C, XM_005251904.3:c.635A>C, XM_005251904.2:c.635A>C, XM_005251904.1:c.635A>C, XM_011518500.3:c.635A>C, XM_011518500.2:c.635A>C, XM_011518500.1:c.635A>C, NM_001282680.3:c.635A>C, NM_001282680.2:c.635A>C, NM_001282680.1:c.635A>C, XM_011518499.3:c.635A>C, XM_011518499.2:c.635A>C, XM_011518499.1:c.635A>C, XM_011518506.3:c.635A>C, XM_011518506.2:c.635A>C, XM_011518506.1:c.635A>C, XM_011518507.3:c.635A>C, XM_011518507.2:c.635A>C, XM_011518507.1:c.635A>C, NM_001282681.3:c.635A>C, NM_001282681.2:c.635A>C, NM_001282681.1:c.635A>C, NM_001330778.3:c.635A>C, NM_001330778.2:c.635A>C, NM_001330778.1:c.635A>C, NM_001330777.3:c.635A>C, NM_001330777.2:c.635A>C, NM_001330777.1:c.635A>C, NM_001354299.2:c.635A>C, NM_001354299.1:c.635A>C, NM_001282679.2:c.635A>C, NM_001282679.1:c.635A>C, NM_001354296.2:c.635A>C, NM_001354296.1:c.635A>C, NM_001354301.2:c.635A>C, NM_001354301.1:c.635A>C, NM_001354297.2:c.635A>C, NM_001354297.1:c.635A>C, XM_017014606.2:c.635A>C, XM_017014606.1:c.635A>C, XM_017014609.2:c.635A>C, XM_017014609.1:c.635A>C, NR_148732.2:n.1000A>C, NR_148732.1:n.1032A>C, NM_001354295.2:c.635A>C, NM_001354295.1:c.635A>C, NR_148733.2:n.850A>C, NR_148733.1:n.882A>C, NM_001354298.2:c.635A>C, NM_001354298.1:c.635A>C, NM_001354294.2:c.635A>C, NM_001354294.1:c.635A>C, NM_001354300.2:c.635A>C, NM_001354300.1:c.635A>C, NM_001354293.2:c.635A>C, NM_001354293.1:c.635A>C, XM_047423182.1:c.635A>C, XM_047423180.1:c.635A>C, XM_047423193.1:c.635A>C, XM_047423189.1:c.635A>C, XM_047423181.1:c.635A>C, XM_047423200.1:c.635A>C, XM_047423194.1:c.635A>C, XM_047423177.1:c.635A>C, XM_047423205.1:c.635A>C, XM_047423179.1:c.635A>C, XM_047423186.1:c.635A>C, XM_047423178.1:c.635A>C, XM_047423187.1:c.635A>C, XM_047423185.1:c.635A>C, XM_047423207.1:c.635A>C, XM_047423192.1:c.635A>C, XM_047423190.1:c.635A>C, XM_047423188.1:c.635A>C, XM_047423195.1:c.635A>C, XM_047423191.1:c.635A>C, XM_047423202.1:c.635A>C, XM_047423198.1:c.635A>C, XM_047423201.1:c.635A>C, XM_047423196.1:c.635A>C, XM_047423183.1:c.635A>C, XM_047423197.1:c.635A>C, XM_047423208.1:c.635A>C, XM_047423203.1:c.635A>C, XM_047423184.1:c.635A>C, XM_047423209.1:c.635A>C, XM_047423199.1:c.635A>C, XM_047423204.1:c.635A>C, XM_047423206.1:c.635A>C, NP_056450.2:p.Glu212Ala, XP_005251961.1:p.Glu212Ala, XP_011516802.1:p.Glu212Ala, NP_001269609.1:p.Glu212Ala, XP_011516801.1:p.Glu212Ala, XP_011516808.1:p.Glu212Ala, XP_011516809.1:p.Glu212Ala, NP_001269610.1:p.Glu212Ala, NP_001317707.1:p.Glu212Ala, NP_001317706.1:p.Glu212Ala, NP_001341228.1:p.Glu212Ala, NP_001269608.1:p.Glu212Ala, NP_001341225.1:p.Glu212Ala, NP_001341230.1:p.Glu212Ala, NP_001341226.1:p.Glu212Ala, XP_016870095.1:p.Glu212Ala, XP_016870098.1:p.Glu212Ala, NP_001341224.1:p.Glu212Ala, NP_001341227.1:p.Glu212Ala, NP_001341223.1:p.Glu212Ala, NP_001341229.1:p.Glu212Ala, NP_001341222.1:p.Glu212Ala, XP_047279138.1:p.Glu212Ala, XP_047279136.1:p.Glu212Ala, XP_047279149.1:p.Glu212Ala, XP_047279145.1:p.Glu212Ala, XP_047279137.1:p.Glu212Ala, XP_047279156.1:p.Glu212Ala, XP_047279150.1:p.Glu212Ala, XP_047279133.1:p.Glu212Ala, XP_047279161.1:p.Glu212Ala, XP_047279135.1:p.Glu212Ala, XP_047279142.1:p.Glu212Ala, XP_047279134.1:p.Glu212Ala, XP_047279143.1:p.Glu212Ala, XP_047279141.1:p.Glu212Ala, XP_047279163.1:p.Glu212Ala, XP_047279148.1:p.Glu212Ala, XP_047279146.1:p.Glu212Ala, XP_047279144.1:p.Glu212Ala, XP_047279151.1:p.Glu212Ala, XP_047279147.1:p.Glu212Ala, XP_047279158.1:p.Glu212Ala, XP_047279154.1:p.Glu212Ala, XP_047279157.1:p.Glu212Ala, XP_047279152.1:p.Glu212Ala, XP_047279139.1:p.Glu212Ala, XP_047279153.1:p.Glu212Ala, XP_047279164.1:p.Glu212Ala, XP_047279159.1:p.Glu212Ala, XP_047279140.1:p.Glu212Ala, XP_047279165.1:p.Glu212Ala, XP_047279155.1:p.Glu212Ala, XP_047279160.1:p.Glu212Ala, XP_047279162.1:p.Glu212Ala

              7.

              rs1469444804 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                9:125307801 (GRCh38)
                9:128070080 (GRCh37)
                Canonical SPDI:
                NC_000009.12:125307800:T:G
                Gene:
                GAPVD1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.125307801T>G, NC_000009.11:g.128070080T>G, NM_015635.4:c.1362T>G, NM_015635.3:c.1362T>G, NM_015635.2:c.1362T>G, XM_005251904.4:c.1362T>G, XM_005251904.3:c.1362T>G, XM_005251904.2:c.1362T>G, XM_005251904.1:c.1362T>G, XM_011518500.3:c.1362T>G, XM_011518500.2:c.1362T>G, XM_011518500.1:c.1362T>G, NM_001282680.3:c.1362T>G, NM_001282680.2:c.1362T>G, NM_001282680.1:c.1362T>G, XM_011518499.3:c.1362T>G, XM_011518499.2:c.1362T>G, XM_011518499.1:c.1362T>G, XM_011518506.3:c.1362T>G, XM_011518506.2:c.1362T>G, XM_011518506.1:c.1362T>G, XM_011518507.3:c.1362T>G, XM_011518507.2:c.1362T>G, XM_011518507.1:c.1362T>G, NM_001282681.3:c.1362T>G, NM_001282681.2:c.1362T>G, NM_001282681.1:c.1362T>G, NM_001330778.3:c.1362T>G, NM_001330778.2:c.1362T>G, NM_001330778.1:c.1362T>G, NM_001330777.3:c.1362T>G, NM_001330777.2:c.1362T>G, NM_001330777.1:c.1362T>G, NM_001354299.2:c.1362T>G, NM_001354299.1:c.1362T>G, NM_001282679.2:c.1362T>G, NM_001282679.1:c.1362T>G, NM_001354296.2:c.1362T>G, NM_001354296.1:c.1362T>G, NM_001354301.2:c.1362T>G, NM_001354301.1:c.1362T>G, NM_001354297.2:c.1362T>G, NM_001354297.1:c.1362T>G, XM_017014606.2:c.1362T>G, XM_017014606.1:c.1362T>G, XM_017014609.2:c.1362T>G, XM_017014609.1:c.1362T>G, NR_148732.2:n.1727T>G, NR_148732.1:n.1759T>G, NM_001354295.2:c.1362T>G, NM_001354295.1:c.1362T>G, NR_148733.2:n.1577T>G, NR_148733.1:n.1609T>G, NM_001354298.2:c.1362T>G, NM_001354298.1:c.1362T>G, NM_001354294.2:c.1362T>G, NM_001354294.1:c.1362T>G, NM_001354300.2:c.1362T>G, NM_001354300.1:c.1362T>G, NM_001354293.2:c.1362T>G, NM_001354293.1:c.1362T>G, XM_047423182.1:c.1362T>G, XM_047423180.1:c.1362T>G, XM_047423193.1:c.1362T>G, XM_047423189.1:c.1362T>G, XM_047423181.1:c.1362T>G, XM_047423200.1:c.1362T>G, XM_047423194.1:c.1362T>G, XM_047423177.1:c.1362T>G, XM_047423205.1:c.1362T>G, XM_047423179.1:c.1362T>G, XM_047423186.1:c.1362T>G, XM_047423178.1:c.1362T>G, XM_047423187.1:c.1362T>G, XM_047423185.1:c.1362T>G, XM_047423207.1:c.1362T>G, XM_047423192.1:c.1362T>G, XM_047423190.1:c.1362T>G, XM_047423188.1:c.1362T>G, XM_047423195.1:c.1362T>G, XM_047423191.1:c.1362T>G, XM_047423202.1:c.1362T>G, XM_047423198.1:c.1362T>G, XM_047423201.1:c.1362T>G, XM_047423196.1:c.1362T>G, XM_047423183.1:c.1362T>G, XM_047423197.1:c.1362T>G, XM_047423208.1:c.1362T>G, XM_047423203.1:c.1362T>G, XM_047423184.1:c.1362T>G, XM_047423209.1:c.1362T>G, XM_047423199.1:c.1362T>G, XM_047423204.1:c.1362T>G, XM_047423206.1:c.1362T>G, NP_056450.2:p.Ser454Arg, XP_005251961.1:p.Ser454Arg, XP_011516802.1:p.Ser454Arg, NP_001269609.1:p.Ser454Arg, XP_011516801.1:p.Ser454Arg, XP_011516808.1:p.Ser454Arg, XP_011516809.1:p.Ser454Arg, NP_001269610.1:p.Ser454Arg, NP_001317707.1:p.Ser454Arg, NP_001317706.1:p.Ser454Arg, NP_001341228.1:p.Ser454Arg, NP_001269608.1:p.Ser454Arg, NP_001341225.1:p.Ser454Arg, NP_001341230.1:p.Ser454Arg, NP_001341226.1:p.Ser454Arg, XP_016870095.1:p.Ser454Arg, XP_016870098.1:p.Ser454Arg, NP_001341224.1:p.Ser454Arg, NP_001341227.1:p.Ser454Arg, NP_001341223.1:p.Ser454Arg, NP_001341229.1:p.Ser454Arg, NP_001341222.1:p.Ser454Arg, XP_047279138.1:p.Ser454Arg, XP_047279136.1:p.Ser454Arg, XP_047279149.1:p.Ser454Arg, XP_047279145.1:p.Ser454Arg, XP_047279137.1:p.Ser454Arg, XP_047279156.1:p.Ser454Arg, XP_047279150.1:p.Ser454Arg, XP_047279133.1:p.Ser454Arg, XP_047279161.1:p.Ser454Arg, XP_047279135.1:p.Ser454Arg, XP_047279142.1:p.Ser454Arg, XP_047279134.1:p.Ser454Arg, XP_047279143.1:p.Ser454Arg, XP_047279141.1:p.Ser454Arg, XP_047279163.1:p.Ser454Arg, XP_047279148.1:p.Ser454Arg, XP_047279146.1:p.Ser454Arg, XP_047279144.1:p.Ser454Arg, XP_047279151.1:p.Ser454Arg, XP_047279147.1:p.Ser454Arg, XP_047279158.1:p.Ser454Arg, XP_047279154.1:p.Ser454Arg, XP_047279157.1:p.Ser454Arg, XP_047279152.1:p.Ser454Arg, XP_047279139.1:p.Ser454Arg, XP_047279153.1:p.Ser454Arg, XP_047279164.1:p.Ser454Arg, XP_047279159.1:p.Ser454Arg, XP_047279140.1:p.Ser454Arg, XP_047279165.1:p.Ser454Arg, XP_047279155.1:p.Ser454Arg, XP_047279160.1:p.Ser454Arg, XP_047279162.1:p.Ser454Arg

                8.

                rs1469225250 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:125298950 (GRCh38)
                  9:128061229 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:125298949:C:T
                  Gene:
                  GAPVD1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000009.12:g.125298950C>T, NC_000009.11:g.128061229C>T, NM_015635.4:c.29C>T, NM_015635.3:c.29C>T, NM_015635.2:c.29C>T, XM_005251904.4:c.29C>T, XM_005251904.3:c.29C>T, XM_005251904.2:c.29C>T, XM_005251904.1:c.29C>T, XM_011518500.3:c.29C>T, XM_011518500.2:c.29C>T, XM_011518500.1:c.29C>T, NM_001282680.3:c.29C>T, NM_001282680.2:c.29C>T, NM_001282680.1:c.29C>T, XM_011518499.3:c.29C>T, XM_011518499.2:c.29C>T, XM_011518499.1:c.29C>T, XM_011518506.3:c.29C>T, XM_011518506.2:c.29C>T, XM_011518506.1:c.29C>T, XM_011518507.3:c.29C>T, XM_011518507.2:c.29C>T, XM_011518507.1:c.29C>T, NM_001282681.3:c.29C>T, NM_001282681.2:c.29C>T, NM_001282681.1:c.29C>T, NM_001330778.3:c.29C>T, NM_001330778.2:c.29C>T, NM_001330778.1:c.29C>T, NM_001330777.3:c.29C>T, NM_001330777.2:c.29C>T, NM_001330777.1:c.29C>T, NM_001354299.2:c.29C>T, NM_001354299.1:c.29C>T, NM_001282679.2:c.29C>T, NM_001282679.1:c.29C>T, NM_001354296.2:c.29C>T, NM_001354296.1:c.29C>T, NM_001354301.2:c.29C>T, NM_001354301.1:c.29C>T, NM_001354297.2:c.29C>T, NM_001354297.1:c.29C>T, XM_017014606.2:c.29C>T, XM_017014606.1:c.29C>T, XM_017014609.2:c.29C>T, XM_017014609.1:c.29C>T, NR_148732.2:n.394C>T, NR_148732.1:n.426C>T, NM_001354295.2:c.29C>T, NM_001354295.1:c.29C>T, NR_148733.2:n.244C>T, NR_148733.1:n.276C>T, NM_001354298.2:c.29C>T, NM_001354298.1:c.29C>T, NM_001354294.2:c.29C>T, NM_001354294.1:c.29C>T, NM_001354300.2:c.29C>T, NM_001354300.1:c.29C>T, NM_001354293.2:c.29C>T, NM_001354293.1:c.29C>T, XM_047423182.1:c.29C>T, XM_047423180.1:c.29C>T, XM_047423193.1:c.29C>T, XM_047423189.1:c.29C>T, XM_047423181.1:c.29C>T, XM_047423200.1:c.29C>T, XM_047423194.1:c.29C>T, XM_047423177.1:c.29C>T, XM_047423205.1:c.29C>T, XM_047423179.1:c.29C>T, XM_047423186.1:c.29C>T, XM_047423178.1:c.29C>T, XM_047423187.1:c.29C>T, XM_047423185.1:c.29C>T, XM_047423207.1:c.29C>T, XM_047423192.1:c.29C>T, XM_047423190.1:c.29C>T, XM_047423188.1:c.29C>T, XM_047423195.1:c.29C>T, XM_047423191.1:c.29C>T, XM_047423202.1:c.29C>T, XM_047423198.1:c.29C>T, XM_047423201.1:c.29C>T, XM_047423196.1:c.29C>T, XM_047423183.1:c.29C>T, XM_047423197.1:c.29C>T, XM_047423208.1:c.29C>T, XM_047423203.1:c.29C>T, XM_047423184.1:c.29C>T, XM_047423209.1:c.29C>T, XM_047423199.1:c.29C>T, XM_047423204.1:c.29C>T, XM_047423206.1:c.29C>T, NP_056450.2:p.Ala10Val, XP_005251961.1:p.Ala10Val, XP_011516802.1:p.Ala10Val, NP_001269609.1:p.Ala10Val, XP_011516801.1:p.Ala10Val, XP_011516808.1:p.Ala10Val, XP_011516809.1:p.Ala10Val, NP_001269610.1:p.Ala10Val, NP_001317707.1:p.Ala10Val, NP_001317706.1:p.Ala10Val, NP_001341228.1:p.Ala10Val, NP_001269608.1:p.Ala10Val, NP_001341225.1:p.Ala10Val, NP_001341230.1:p.Ala10Val, NP_001341226.1:p.Ala10Val, XP_016870095.1:p.Ala10Val, XP_016870098.1:p.Ala10Val, NP_001341224.1:p.Ala10Val, NP_001341227.1:p.Ala10Val, NP_001341223.1:p.Ala10Val, NP_001341229.1:p.Ala10Val, NP_001341222.1:p.Ala10Val, XP_047279138.1:p.Ala10Val, XP_047279136.1:p.Ala10Val, XP_047279149.1:p.Ala10Val, XP_047279145.1:p.Ala10Val, XP_047279137.1:p.Ala10Val, XP_047279156.1:p.Ala10Val, XP_047279150.1:p.Ala10Val, XP_047279133.1:p.Ala10Val, XP_047279161.1:p.Ala10Val, XP_047279135.1:p.Ala10Val, XP_047279142.1:p.Ala10Val, XP_047279134.1:p.Ala10Val, XP_047279143.1:p.Ala10Val, XP_047279141.1:p.Ala10Val, XP_047279163.1:p.Ala10Val, XP_047279148.1:p.Ala10Val, XP_047279146.1:p.Ala10Val, XP_047279144.1:p.Ala10Val, XP_047279151.1:p.Ala10Val, XP_047279147.1:p.Ala10Val, XP_047279158.1:p.Ala10Val, XP_047279154.1:p.Ala10Val, XP_047279157.1:p.Ala10Val, XP_047279152.1:p.Ala10Val, XP_047279139.1:p.Ala10Val, XP_047279153.1:p.Ala10Val, XP_047279164.1:p.Ala10Val, XP_047279159.1:p.Ala10Val, XP_047279140.1:p.Ala10Val, XP_047279165.1:p.Ala10Val, XP_047279155.1:p.Ala10Val, XP_047279160.1:p.Ala10Val, XP_047279162.1:p.Ala10Val

                  9.

                  rs1467337538 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    9:125307875 (GRCh38)
                    9:128070154 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:125307874:C:A
                    Gene:
                    GAPVD1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    NC_000009.12:g.125307875C>A, NC_000009.11:g.128070154C>A, NM_015635.4:c.1436C>A, NM_015635.3:c.1436C>A, NM_015635.2:c.1436C>A, XM_005251904.4:c.1436C>A, XM_005251904.3:c.1436C>A, XM_005251904.2:c.1436C>A, XM_005251904.1:c.1436C>A, XM_011518500.3:c.1436C>A, XM_011518500.2:c.1436C>A, XM_011518500.1:c.1436C>A, NM_001282680.3:c.1436C>A, NM_001282680.2:c.1436C>A, NM_001282680.1:c.1436C>A, XM_011518499.3:c.1436C>A, XM_011518499.2:c.1436C>A, XM_011518499.1:c.1436C>A, XM_011518506.3:c.1436C>A, XM_011518506.2:c.1436C>A, XM_011518506.1:c.1436C>A, XM_011518507.3:c.1436C>A, XM_011518507.2:c.1436C>A, XM_011518507.1:c.1436C>A, NM_001282681.3:c.1436C>A, NM_001282681.2:c.1436C>A, NM_001282681.1:c.1436C>A, NM_001330778.3:c.1436C>A, NM_001330778.2:c.1436C>A, NM_001330778.1:c.1436C>A, NM_001330777.3:c.1436C>A, NM_001330777.2:c.1436C>A, NM_001330777.1:c.1436C>A, NM_001354299.2:c.1436C>A, NM_001354299.1:c.1436C>A, NM_001282679.2:c.1436C>A, NM_001282679.1:c.1436C>A, NM_001354296.2:c.1436C>A, NM_001354296.1:c.1436C>A, NM_001354301.2:c.1436C>A, NM_001354301.1:c.1436C>A, NM_001354297.2:c.1436C>A, NM_001354297.1:c.1436C>A, XM_017014606.2:c.1436C>A, XM_017014606.1:c.1436C>A, XM_017014609.2:c.1436C>A, XM_017014609.1:c.1436C>A, NR_148732.2:n.1801C>A, NR_148732.1:n.1833C>A, NM_001354295.2:c.1436C>A, NM_001354295.1:c.1436C>A, NR_148733.2:n.1651C>A, NR_148733.1:n.1683C>A, NM_001354298.2:c.1436C>A, NM_001354298.1:c.1436C>A, NM_001354294.2:c.1436C>A, NM_001354294.1:c.1436C>A, NM_001354300.2:c.1436C>A, NM_001354300.1:c.1436C>A, NM_001354293.2:c.1436C>A, NM_001354293.1:c.1436C>A, XM_047423182.1:c.1436C>A, XM_047423180.1:c.1436C>A, XM_047423193.1:c.1436C>A, XM_047423189.1:c.1436C>A, XM_047423181.1:c.1436C>A, XM_047423200.1:c.1436C>A, XM_047423194.1:c.1436C>A, XM_047423177.1:c.1436C>A, XM_047423205.1:c.1436C>A, XM_047423179.1:c.1436C>A, XM_047423186.1:c.1436C>A, XM_047423178.1:c.1436C>A, XM_047423187.1:c.1436C>A, XM_047423185.1:c.1436C>A, XM_047423207.1:c.1436C>A, XM_047423192.1:c.1436C>A, XM_047423190.1:c.1436C>A, XM_047423188.1:c.1436C>A, XM_047423195.1:c.1436C>A, XM_047423191.1:c.1436C>A, XM_047423202.1:c.1436C>A, XM_047423198.1:c.1436C>A, XM_047423201.1:c.1436C>A, XM_047423196.1:c.1436C>A, XM_047423183.1:c.1436C>A, XM_047423197.1:c.1436C>A, XM_047423208.1:c.1436C>A, XM_047423203.1:c.1436C>A, XM_047423184.1:c.1436C>A, XM_047423209.1:c.1436C>A, XM_047423199.1:c.1436C>A, XM_047423204.1:c.1436C>A, XM_047423206.1:c.1436C>A, NP_056450.2:p.Pro479His, XP_005251961.1:p.Pro479His, XP_011516802.1:p.Pro479His, NP_001269609.1:p.Pro479His, XP_011516801.1:p.Pro479His, XP_011516808.1:p.Pro479His, XP_011516809.1:p.Pro479His, NP_001269610.1:p.Pro479His, NP_001317707.1:p.Pro479His, NP_001317706.1:p.Pro479His, NP_001341228.1:p.Pro479His, NP_001269608.1:p.Pro479His, NP_001341225.1:p.Pro479His, NP_001341230.1:p.Pro479His, NP_001341226.1:p.Pro479His, XP_016870095.1:p.Pro479His, XP_016870098.1:p.Pro479His, NP_001341224.1:p.Pro479His, NP_001341227.1:p.Pro479His, NP_001341223.1:p.Pro479His, NP_001341229.1:p.Pro479His, NP_001341222.1:p.Pro479His, XP_047279138.1:p.Pro479His, XP_047279136.1:p.Pro479His, XP_047279149.1:p.Pro479His, XP_047279145.1:p.Pro479His, XP_047279137.1:p.Pro479His, XP_047279156.1:p.Pro479His, XP_047279150.1:p.Pro479His, XP_047279133.1:p.Pro479His, XP_047279161.1:p.Pro479His, XP_047279135.1:p.Pro479His, XP_047279142.1:p.Pro479His, XP_047279134.1:p.Pro479His, XP_047279143.1:p.Pro479His, XP_047279141.1:p.Pro479His, XP_047279163.1:p.Pro479His, XP_047279148.1:p.Pro479His, XP_047279146.1:p.Pro479His, XP_047279144.1:p.Pro479His, XP_047279151.1:p.Pro479His, XP_047279147.1:p.Pro479His, XP_047279158.1:p.Pro479His, XP_047279154.1:p.Pro479His, XP_047279157.1:p.Pro479His, XP_047279152.1:p.Pro479His, XP_047279139.1:p.Pro479His, XP_047279153.1:p.Pro479His, XP_047279164.1:p.Pro479His, XP_047279159.1:p.Pro479His, XP_047279140.1:p.Pro479His, XP_047279165.1:p.Pro479His, XP_047279155.1:p.Pro479His, XP_047279160.1:p.Pro479His, XP_047279162.1:p.Pro479His

                    10.

                    rs1464787328 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      9:125307526 (GRCh38)
                      9:128069805 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:125307525:C:G
                      Gene:
                      GAPVD1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000009.12:g.125307526C>G, NC_000009.11:g.128069805C>G, NM_015635.4:c.1230C>G, NM_015635.3:c.1230C>G, NM_015635.2:c.1230C>G, XM_005251904.4:c.1230C>G, XM_005251904.3:c.1230C>G, XM_005251904.2:c.1230C>G, XM_005251904.1:c.1230C>G, XM_011518500.3:c.1230C>G, XM_011518500.2:c.1230C>G, XM_011518500.1:c.1230C>G, NM_001282680.3:c.1230C>G, NM_001282680.2:c.1230C>G, NM_001282680.1:c.1230C>G, XM_011518499.3:c.1230C>G, XM_011518499.2:c.1230C>G, XM_011518499.1:c.1230C>G, XM_011518506.3:c.1230C>G, XM_011518506.2:c.1230C>G, XM_011518506.1:c.1230C>G, XM_011518507.3:c.1230C>G, XM_011518507.2:c.1230C>G, XM_011518507.1:c.1230C>G, NM_001282681.3:c.1230C>G, NM_001282681.2:c.1230C>G, NM_001282681.1:c.1230C>G, NM_001330778.3:c.1230C>G, NM_001330778.2:c.1230C>G, NM_001330778.1:c.1230C>G, NM_001330777.3:c.1230C>G, NM_001330777.2:c.1230C>G, NM_001330777.1:c.1230C>G, NM_001354299.2:c.1230C>G, NM_001354299.1:c.1230C>G, NM_001282679.2:c.1230C>G, NM_001282679.1:c.1230C>G, NM_001354296.2:c.1230C>G, NM_001354296.1:c.1230C>G, NM_001354301.2:c.1230C>G, NM_001354301.1:c.1230C>G, NM_001354297.2:c.1230C>G, NM_001354297.1:c.1230C>G, XM_017014606.2:c.1230C>G, XM_017014606.1:c.1230C>G, XM_017014609.2:c.1230C>G, XM_017014609.1:c.1230C>G, NR_148732.2:n.1595C>G, NR_148732.1:n.1627C>G, NM_001354295.2:c.1230C>G, NM_001354295.1:c.1230C>G, NR_148733.2:n.1445C>G, NR_148733.1:n.1477C>G, NM_001354298.2:c.1230C>G, NM_001354298.1:c.1230C>G, NM_001354294.2:c.1230C>G, NM_001354294.1:c.1230C>G, NM_001354300.2:c.1230C>G, NM_001354300.1:c.1230C>G, NM_001354293.2:c.1230C>G, NM_001354293.1:c.1230C>G, XM_047423182.1:c.1230C>G, XM_047423180.1:c.1230C>G, XM_047423193.1:c.1230C>G, XM_047423189.1:c.1230C>G, XM_047423181.1:c.1230C>G, XM_047423200.1:c.1230C>G, XM_047423194.1:c.1230C>G, XM_047423177.1:c.1230C>G, XM_047423205.1:c.1230C>G, XM_047423179.1:c.1230C>G, XM_047423186.1:c.1230C>G, XM_047423178.1:c.1230C>G, XM_047423187.1:c.1230C>G, XM_047423185.1:c.1230C>G, XM_047423207.1:c.1230C>G, XM_047423192.1:c.1230C>G, XM_047423190.1:c.1230C>G, XM_047423188.1:c.1230C>G, XM_047423195.1:c.1230C>G, XM_047423191.1:c.1230C>G, XM_047423202.1:c.1230C>G, XM_047423198.1:c.1230C>G, XM_047423201.1:c.1230C>G, XM_047423196.1:c.1230C>G, XM_047423183.1:c.1230C>G, XM_047423197.1:c.1230C>G, XM_047423208.1:c.1230C>G, XM_047423203.1:c.1230C>G, XM_047423184.1:c.1230C>G, XM_047423209.1:c.1230C>G, XM_047423199.1:c.1230C>G, XM_047423204.1:c.1230C>G, XM_047423206.1:c.1230C>G

                      11.

                      rs1463370447 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:125302054 (GRCh38)
                        9:128064333 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:125302053:A:G
                        Gene:
                        GAPVD1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.125302054A>G, NC_000009.11:g.128064333A>G, NM_015635.4:c.257A>G, NM_015635.3:c.257A>G, NM_015635.2:c.257A>G, XM_005251904.4:c.257A>G, XM_005251904.3:c.257A>G, XM_005251904.2:c.257A>G, XM_005251904.1:c.257A>G, XM_011518500.3:c.257A>G, XM_011518500.2:c.257A>G, XM_011518500.1:c.257A>G, NM_001282680.3:c.257A>G, NM_001282680.2:c.257A>G, NM_001282680.1:c.257A>G, XM_011518499.3:c.257A>G, XM_011518499.2:c.257A>G, XM_011518499.1:c.257A>G, XM_011518506.3:c.257A>G, XM_011518506.2:c.257A>G, XM_011518506.1:c.257A>G, XM_011518507.3:c.257A>G, XM_011518507.2:c.257A>G, XM_011518507.1:c.257A>G, NM_001282681.3:c.257A>G, NM_001282681.2:c.257A>G, NM_001282681.1:c.257A>G, NM_001330778.3:c.257A>G, NM_001330778.2:c.257A>G, NM_001330778.1:c.257A>G, NM_001330777.3:c.257A>G, NM_001330777.2:c.257A>G, NM_001330777.1:c.257A>G, NM_001354299.2:c.257A>G, NM_001354299.1:c.257A>G, NM_001282679.2:c.257A>G, NM_001282679.1:c.257A>G, NM_001354296.2:c.257A>G, NM_001354296.1:c.257A>G, NM_001354301.2:c.257A>G, NM_001354301.1:c.257A>G, NM_001354297.2:c.257A>G, NM_001354297.1:c.257A>G, XM_017014606.2:c.257A>G, XM_017014606.1:c.257A>G, XM_017014609.2:c.257A>G, XM_017014609.1:c.257A>G, NR_148732.2:n.622A>G, NR_148732.1:n.654A>G, NM_001354295.2:c.257A>G, NM_001354295.1:c.257A>G, NR_148733.2:n.472A>G, NR_148733.1:n.504A>G, NM_001354298.2:c.257A>G, NM_001354298.1:c.257A>G, NM_001354294.2:c.257A>G, NM_001354294.1:c.257A>G, NM_001354300.2:c.257A>G, NM_001354300.1:c.257A>G, NM_001354293.2:c.257A>G, NM_001354293.1:c.257A>G, XM_047423182.1:c.257A>G, XM_047423180.1:c.257A>G, XM_047423193.1:c.257A>G, XM_047423189.1:c.257A>G, XM_047423181.1:c.257A>G, XM_047423200.1:c.257A>G, XM_047423194.1:c.257A>G, XM_047423177.1:c.257A>G, XM_047423205.1:c.257A>G, XM_047423179.1:c.257A>G, XM_047423186.1:c.257A>G, XM_047423178.1:c.257A>G, XM_047423187.1:c.257A>G, XM_047423185.1:c.257A>G, XM_047423207.1:c.257A>G, XM_047423192.1:c.257A>G, XM_047423190.1:c.257A>G, XM_047423188.1:c.257A>G, XM_047423195.1:c.257A>G, XM_047423191.1:c.257A>G, XM_047423202.1:c.257A>G, XM_047423198.1:c.257A>G, XM_047423201.1:c.257A>G, XM_047423196.1:c.257A>G, XM_047423183.1:c.257A>G, XM_047423197.1:c.257A>G, XM_047423208.1:c.257A>G, XM_047423203.1:c.257A>G, XM_047423184.1:c.257A>G, XM_047423209.1:c.257A>G, XM_047423199.1:c.257A>G, XM_047423204.1:c.257A>G, XM_047423206.1:c.257A>G, NP_056450.2:p.Tyr86Cys, XP_005251961.1:p.Tyr86Cys, XP_011516802.1:p.Tyr86Cys, NP_001269609.1:p.Tyr86Cys, XP_011516801.1:p.Tyr86Cys, XP_011516808.1:p.Tyr86Cys, XP_011516809.1:p.Tyr86Cys, NP_001269610.1:p.Tyr86Cys, NP_001317707.1:p.Tyr86Cys, NP_001317706.1:p.Tyr86Cys, NP_001341228.1:p.Tyr86Cys, NP_001269608.1:p.Tyr86Cys, NP_001341225.1:p.Tyr86Cys, NP_001341230.1:p.Tyr86Cys, NP_001341226.1:p.Tyr86Cys, XP_016870095.1:p.Tyr86Cys, XP_016870098.1:p.Tyr86Cys, NP_001341224.1:p.Tyr86Cys, NP_001341227.1:p.Tyr86Cys, NP_001341223.1:p.Tyr86Cys, NP_001341229.1:p.Tyr86Cys, NP_001341222.1:p.Tyr86Cys, XP_047279138.1:p.Tyr86Cys, XP_047279136.1:p.Tyr86Cys, XP_047279149.1:p.Tyr86Cys, XP_047279145.1:p.Tyr86Cys, XP_047279137.1:p.Tyr86Cys, XP_047279156.1:p.Tyr86Cys, XP_047279150.1:p.Tyr86Cys, XP_047279133.1:p.Tyr86Cys, XP_047279161.1:p.Tyr86Cys, XP_047279135.1:p.Tyr86Cys, XP_047279142.1:p.Tyr86Cys, XP_047279134.1:p.Tyr86Cys, XP_047279143.1:p.Tyr86Cys, XP_047279141.1:p.Tyr86Cys, XP_047279163.1:p.Tyr86Cys, XP_047279148.1:p.Tyr86Cys, XP_047279146.1:p.Tyr86Cys, XP_047279144.1:p.Tyr86Cys, XP_047279151.1:p.Tyr86Cys, XP_047279147.1:p.Tyr86Cys, XP_047279158.1:p.Tyr86Cys, XP_047279154.1:p.Tyr86Cys, XP_047279157.1:p.Tyr86Cys, XP_047279152.1:p.Tyr86Cys, XP_047279139.1:p.Tyr86Cys, XP_047279153.1:p.Tyr86Cys, XP_047279164.1:p.Tyr86Cys, XP_047279159.1:p.Tyr86Cys, XP_047279140.1:p.Tyr86Cys, XP_047279165.1:p.Tyr86Cys, XP_047279155.1:p.Tyr86Cys, XP_047279160.1:p.Tyr86Cys, XP_047279162.1:p.Tyr86Cys

                        12.

                        rs1459135055 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:125302415 (GRCh38)
                          9:128064694 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:125302414:A:G
                          Gene:
                          GAPVD1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000062/2 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000009.12:g.125302415A>G, NC_000009.11:g.128064694A>G, NM_015635.4:c.618A>G, NM_015635.3:c.618A>G, NM_015635.2:c.618A>G, XM_005251904.4:c.618A>G, XM_005251904.3:c.618A>G, XM_005251904.2:c.618A>G, XM_005251904.1:c.618A>G, XM_011518500.3:c.618A>G, XM_011518500.2:c.618A>G, XM_011518500.1:c.618A>G, NM_001282680.3:c.618A>G, NM_001282680.2:c.618A>G, NM_001282680.1:c.618A>G, XM_011518499.3:c.618A>G, XM_011518499.2:c.618A>G, XM_011518499.1:c.618A>G, XM_011518506.3:c.618A>G, XM_011518506.2:c.618A>G, XM_011518506.1:c.618A>G, XM_011518507.3:c.618A>G, XM_011518507.2:c.618A>G, XM_011518507.1:c.618A>G, NM_001282681.3:c.618A>G, NM_001282681.2:c.618A>G, NM_001282681.1:c.618A>G, NM_001330778.3:c.618A>G, NM_001330778.2:c.618A>G, NM_001330778.1:c.618A>G, NM_001330777.3:c.618A>G, NM_001330777.2:c.618A>G, NM_001330777.1:c.618A>G, NM_001354299.2:c.618A>G, NM_001354299.1:c.618A>G, NM_001282679.2:c.618A>G, NM_001282679.1:c.618A>G, NM_001354296.2:c.618A>G, NM_001354296.1:c.618A>G, NM_001354301.2:c.618A>G, NM_001354301.1:c.618A>G, NM_001354297.2:c.618A>G, NM_001354297.1:c.618A>G, XM_017014606.2:c.618A>G, XM_017014606.1:c.618A>G, XM_017014609.2:c.618A>G, XM_017014609.1:c.618A>G, NR_148732.2:n.983A>G, NR_148732.1:n.1015A>G, NM_001354295.2:c.618A>G, NM_001354295.1:c.618A>G, NR_148733.2:n.833A>G, NR_148733.1:n.865A>G, NM_001354298.2:c.618A>G, NM_001354298.1:c.618A>G, NM_001354294.2:c.618A>G, NM_001354294.1:c.618A>G, NM_001354300.2:c.618A>G, NM_001354300.1:c.618A>G, NM_001354293.2:c.618A>G, NM_001354293.1:c.618A>G, XM_047423182.1:c.618A>G, XM_047423180.1:c.618A>G, XM_047423193.1:c.618A>G, XM_047423189.1:c.618A>G, XM_047423181.1:c.618A>G, XM_047423200.1:c.618A>G, XM_047423194.1:c.618A>G, XM_047423177.1:c.618A>G, XM_047423205.1:c.618A>G, XM_047423179.1:c.618A>G, XM_047423186.1:c.618A>G, XM_047423178.1:c.618A>G, XM_047423187.1:c.618A>G, XM_047423185.1:c.618A>G, XM_047423207.1:c.618A>G, XM_047423192.1:c.618A>G, XM_047423190.1:c.618A>G, XM_047423188.1:c.618A>G, XM_047423195.1:c.618A>G, XM_047423191.1:c.618A>G, XM_047423202.1:c.618A>G, XM_047423198.1:c.618A>G, XM_047423201.1:c.618A>G, XM_047423196.1:c.618A>G, XM_047423183.1:c.618A>G, XM_047423197.1:c.618A>G, XM_047423208.1:c.618A>G, XM_047423203.1:c.618A>G, XM_047423184.1:c.618A>G, XM_047423209.1:c.618A>G, XM_047423199.1:c.618A>G, XM_047423204.1:c.618A>G, XM_047423206.1:c.618A>G

                          13.

                          rs1456182269 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:125302144 (GRCh38)
                            9:128064423 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:125302143:C:T
                            Gene:
                            GAPVD1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_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_000009.12:g.125302144C>T, NC_000009.11:g.128064423C>T, NM_015635.4:c.347C>T, NM_015635.3:c.347C>T, NM_015635.2:c.347C>T, XM_005251904.4:c.347C>T, XM_005251904.3:c.347C>T, XM_005251904.2:c.347C>T, XM_005251904.1:c.347C>T, XM_011518500.3:c.347C>T, XM_011518500.2:c.347C>T, XM_011518500.1:c.347C>T, NM_001282680.3:c.347C>T, NM_001282680.2:c.347C>T, NM_001282680.1:c.347C>T, XM_011518499.3:c.347C>T, XM_011518499.2:c.347C>T, XM_011518499.1:c.347C>T, XM_011518506.3:c.347C>T, XM_011518506.2:c.347C>T, XM_011518506.1:c.347C>T, XM_011518507.3:c.347C>T, XM_011518507.2:c.347C>T, XM_011518507.1:c.347C>T, NM_001282681.3:c.347C>T, NM_001282681.2:c.347C>T, NM_001282681.1:c.347C>T, NM_001330778.3:c.347C>T, NM_001330778.2:c.347C>T, NM_001330778.1:c.347C>T, NM_001330777.3:c.347C>T, NM_001330777.2:c.347C>T, NM_001330777.1:c.347C>T, NM_001354299.2:c.347C>T, NM_001354299.1:c.347C>T, NM_001282679.2:c.347C>T, NM_001282679.1:c.347C>T, NM_001354296.2:c.347C>T, NM_001354296.1:c.347C>T, NM_001354301.2:c.347C>T, NM_001354301.1:c.347C>T, NM_001354297.2:c.347C>T, NM_001354297.1:c.347C>T, XM_017014606.2:c.347C>T, XM_017014606.1:c.347C>T, XM_017014609.2:c.347C>T, XM_017014609.1:c.347C>T, NR_148732.2:n.712C>T, NR_148732.1:n.744C>T, NM_001354295.2:c.347C>T, NM_001354295.1:c.347C>T, NR_148733.2:n.562C>T, NR_148733.1:n.594C>T, NM_001354298.2:c.347C>T, NM_001354298.1:c.347C>T, NM_001354294.2:c.347C>T, NM_001354294.1:c.347C>T, NM_001354300.2:c.347C>T, NM_001354300.1:c.347C>T, NM_001354293.2:c.347C>T, NM_001354293.1:c.347C>T, XM_047423182.1:c.347C>T, XM_047423180.1:c.347C>T, XM_047423193.1:c.347C>T, XM_047423189.1:c.347C>T, XM_047423181.1:c.347C>T, XM_047423200.1:c.347C>T, XM_047423194.1:c.347C>T, XM_047423177.1:c.347C>T, XM_047423205.1:c.347C>T, XM_047423179.1:c.347C>T, XM_047423186.1:c.347C>T, XM_047423178.1:c.347C>T, XM_047423187.1:c.347C>T, XM_047423185.1:c.347C>T, XM_047423207.1:c.347C>T, XM_047423192.1:c.347C>T, XM_047423190.1:c.347C>T, XM_047423188.1:c.347C>T, XM_047423195.1:c.347C>T, XM_047423191.1:c.347C>T, XM_047423202.1:c.347C>T, XM_047423198.1:c.347C>T, XM_047423201.1:c.347C>T, XM_047423196.1:c.347C>T, XM_047423183.1:c.347C>T, XM_047423197.1:c.347C>T, XM_047423208.1:c.347C>T, XM_047423203.1:c.347C>T, XM_047423184.1:c.347C>T, XM_047423209.1:c.347C>T, XM_047423199.1:c.347C>T, XM_047423204.1:c.347C>T, XM_047423206.1:c.347C>T, NP_056450.2:p.Ala116Val, XP_005251961.1:p.Ala116Val, XP_011516802.1:p.Ala116Val, NP_001269609.1:p.Ala116Val, XP_011516801.1:p.Ala116Val, XP_011516808.1:p.Ala116Val, XP_011516809.1:p.Ala116Val, NP_001269610.1:p.Ala116Val, NP_001317707.1:p.Ala116Val, NP_001317706.1:p.Ala116Val, NP_001341228.1:p.Ala116Val, NP_001269608.1:p.Ala116Val, NP_001341225.1:p.Ala116Val, NP_001341230.1:p.Ala116Val, NP_001341226.1:p.Ala116Val, XP_016870095.1:p.Ala116Val, XP_016870098.1:p.Ala116Val, NP_001341224.1:p.Ala116Val, NP_001341227.1:p.Ala116Val, NP_001341223.1:p.Ala116Val, NP_001341229.1:p.Ala116Val, NP_001341222.1:p.Ala116Val, XP_047279138.1:p.Ala116Val, XP_047279136.1:p.Ala116Val, XP_047279149.1:p.Ala116Val, XP_047279145.1:p.Ala116Val, XP_047279137.1:p.Ala116Val, XP_047279156.1:p.Ala116Val, XP_047279150.1:p.Ala116Val, XP_047279133.1:p.Ala116Val, XP_047279161.1:p.Ala116Val, XP_047279135.1:p.Ala116Val, XP_047279142.1:p.Ala116Val, XP_047279134.1:p.Ala116Val, XP_047279143.1:p.Ala116Val, XP_047279141.1:p.Ala116Val, XP_047279163.1:p.Ala116Val, XP_047279148.1:p.Ala116Val, XP_047279146.1:p.Ala116Val, XP_047279144.1:p.Ala116Val, XP_047279151.1:p.Ala116Val, XP_047279147.1:p.Ala116Val, XP_047279158.1:p.Ala116Val, XP_047279154.1:p.Ala116Val, XP_047279157.1:p.Ala116Val, XP_047279152.1:p.Ala116Val, XP_047279139.1:p.Ala116Val, XP_047279153.1:p.Ala116Val, XP_047279164.1:p.Ala116Val, XP_047279159.1:p.Ala116Val, XP_047279140.1:p.Ala116Val, XP_047279165.1:p.Ala116Val, XP_047279155.1:p.Ala116Val, XP_047279160.1:p.Ala116Val, XP_047279162.1:p.Ala116Val

                            14.

                            rs1453787665 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:125302498 (GRCh38)
                              9:128064777 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:125302497:T:C
                              Gene:
                              GAPVD1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000066/1 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000223/1 (Estonian)
                              HGVS:
                              NC_000009.12:g.125302498T>C, NC_000009.11:g.128064777T>C, NM_015635.4:c.701T>C, NM_015635.3:c.701T>C, NM_015635.2:c.701T>C, XM_005251904.4:c.701T>C, XM_005251904.3:c.701T>C, XM_005251904.2:c.701T>C, XM_005251904.1:c.701T>C, XM_011518500.3:c.701T>C, XM_011518500.2:c.701T>C, XM_011518500.1:c.701T>C, NM_001282680.3:c.701T>C, NM_001282680.2:c.701T>C, NM_001282680.1:c.701T>C, XM_011518499.3:c.701T>C, XM_011518499.2:c.701T>C, XM_011518499.1:c.701T>C, XM_011518506.3:c.701T>C, XM_011518506.2:c.701T>C, XM_011518506.1:c.701T>C, XM_011518507.3:c.701T>C, XM_011518507.2:c.701T>C, XM_011518507.1:c.701T>C, NM_001282681.3:c.701T>C, NM_001282681.2:c.701T>C, NM_001282681.1:c.701T>C, NM_001330778.3:c.701T>C, NM_001330778.2:c.701T>C, NM_001330778.1:c.701T>C, NM_001330777.3:c.701T>C, NM_001330777.2:c.701T>C, NM_001330777.1:c.701T>C, NM_001354299.2:c.701T>C, NM_001354299.1:c.701T>C, NM_001282679.2:c.701T>C, NM_001282679.1:c.701T>C, NM_001354296.2:c.701T>C, NM_001354296.1:c.701T>C, NM_001354301.2:c.701T>C, NM_001354301.1:c.701T>C, NM_001354297.2:c.701T>C, NM_001354297.1:c.701T>C, XM_017014606.2:c.701T>C, XM_017014606.1:c.701T>C, XM_017014609.2:c.701T>C, XM_017014609.1:c.701T>C, NR_148732.2:n.1066T>C, NR_148732.1:n.1098T>C, NM_001354295.2:c.701T>C, NM_001354295.1:c.701T>C, NR_148733.2:n.916T>C, NR_148733.1:n.948T>C, NM_001354298.2:c.701T>C, NM_001354298.1:c.701T>C, NM_001354294.2:c.701T>C, NM_001354294.1:c.701T>C, NM_001354300.2:c.701T>C, NM_001354300.1:c.701T>C, NM_001354293.2:c.701T>C, NM_001354293.1:c.701T>C, XM_047423182.1:c.701T>C, XM_047423180.1:c.701T>C, XM_047423193.1:c.701T>C, XM_047423189.1:c.701T>C, XM_047423181.1:c.701T>C, XM_047423200.1:c.701T>C, XM_047423194.1:c.701T>C, XM_047423177.1:c.701T>C, XM_047423205.1:c.701T>C, XM_047423179.1:c.701T>C, XM_047423186.1:c.701T>C, XM_047423178.1:c.701T>C, XM_047423187.1:c.701T>C, XM_047423185.1:c.701T>C, XM_047423207.1:c.701T>C, XM_047423192.1:c.701T>C, XM_047423190.1:c.701T>C, XM_047423188.1:c.701T>C, XM_047423195.1:c.701T>C, XM_047423191.1:c.701T>C, XM_047423202.1:c.701T>C, XM_047423198.1:c.701T>C, XM_047423201.1:c.701T>C, XM_047423196.1:c.701T>C, XM_047423183.1:c.701T>C, XM_047423197.1:c.701T>C, XM_047423208.1:c.701T>C, XM_047423203.1:c.701T>C, XM_047423184.1:c.701T>C, XM_047423209.1:c.701T>C, XM_047423199.1:c.701T>C, XM_047423204.1:c.701T>C, XM_047423206.1:c.701T>C, NP_056450.2:p.Leu234Pro, XP_005251961.1:p.Leu234Pro, XP_011516802.1:p.Leu234Pro, NP_001269609.1:p.Leu234Pro, XP_011516801.1:p.Leu234Pro, XP_011516808.1:p.Leu234Pro, XP_011516809.1:p.Leu234Pro, NP_001269610.1:p.Leu234Pro, NP_001317707.1:p.Leu234Pro, NP_001317706.1:p.Leu234Pro, NP_001341228.1:p.Leu234Pro, NP_001269608.1:p.Leu234Pro, NP_001341225.1:p.Leu234Pro, NP_001341230.1:p.Leu234Pro, NP_001341226.1:p.Leu234Pro, XP_016870095.1:p.Leu234Pro, XP_016870098.1:p.Leu234Pro, NP_001341224.1:p.Leu234Pro, NP_001341227.1:p.Leu234Pro, NP_001341223.1:p.Leu234Pro, NP_001341229.1:p.Leu234Pro, NP_001341222.1:p.Leu234Pro, XP_047279138.1:p.Leu234Pro, XP_047279136.1:p.Leu234Pro, XP_047279149.1:p.Leu234Pro, XP_047279145.1:p.Leu234Pro, XP_047279137.1:p.Leu234Pro, XP_047279156.1:p.Leu234Pro, XP_047279150.1:p.Leu234Pro, XP_047279133.1:p.Leu234Pro, XP_047279161.1:p.Leu234Pro, XP_047279135.1:p.Leu234Pro, XP_047279142.1:p.Leu234Pro, XP_047279134.1:p.Leu234Pro, XP_047279143.1:p.Leu234Pro, XP_047279141.1:p.Leu234Pro, XP_047279163.1:p.Leu234Pro, XP_047279148.1:p.Leu234Pro, XP_047279146.1:p.Leu234Pro, XP_047279144.1:p.Leu234Pro, XP_047279151.1:p.Leu234Pro, XP_047279147.1:p.Leu234Pro, XP_047279158.1:p.Leu234Pro, XP_047279154.1:p.Leu234Pro, XP_047279157.1:p.Leu234Pro, XP_047279152.1:p.Leu234Pro, XP_047279139.1:p.Leu234Pro, XP_047279153.1:p.Leu234Pro, XP_047279164.1:p.Leu234Pro, XP_047279159.1:p.Leu234Pro, XP_047279140.1:p.Leu234Pro, XP_047279165.1:p.Leu234Pro, XP_047279155.1:p.Leu234Pro, XP_047279160.1:p.Leu234Pro, XP_047279162.1:p.Leu234Pro

                              15.

                              rs1451964201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:125305065 (GRCh38)
                                9:128067344 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:125305064:A:G
                                Gene:
                                GAPVD1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.125305065A>G, NC_000009.11:g.128067344A>G, NM_015635.4:c.1032A>G, NM_015635.3:c.1032A>G, NM_015635.2:c.1032A>G, XM_005251904.4:c.1032A>G, XM_005251904.3:c.1032A>G, XM_005251904.2:c.1032A>G, XM_005251904.1:c.1032A>G, XM_011518500.3:c.1032A>G, XM_011518500.2:c.1032A>G, XM_011518500.1:c.1032A>G, NM_001282680.3:c.1032A>G, NM_001282680.2:c.1032A>G, NM_001282680.1:c.1032A>G, XM_011518499.3:c.1032A>G, XM_011518499.2:c.1032A>G, XM_011518499.1:c.1032A>G, XM_011518506.3:c.1032A>G, XM_011518506.2:c.1032A>G, XM_011518506.1:c.1032A>G, XM_011518507.3:c.1032A>G, XM_011518507.2:c.1032A>G, XM_011518507.1:c.1032A>G, NM_001282681.3:c.1032A>G, NM_001282681.2:c.1032A>G, NM_001282681.1:c.1032A>G, NM_001330778.3:c.1032A>G, NM_001330778.2:c.1032A>G, NM_001330778.1:c.1032A>G, NM_001330777.3:c.1032A>G, NM_001330777.2:c.1032A>G, NM_001330777.1:c.1032A>G, NM_001354299.2:c.1032A>G, NM_001354299.1:c.1032A>G, NM_001282679.2:c.1032A>G, NM_001282679.1:c.1032A>G, NM_001354296.2:c.1032A>G, NM_001354296.1:c.1032A>G, NM_001354301.2:c.1032A>G, NM_001354301.1:c.1032A>G, NM_001354297.2:c.1032A>G, NM_001354297.1:c.1032A>G, XM_017014606.2:c.1032A>G, XM_017014606.1:c.1032A>G, XM_017014609.2:c.1032A>G, XM_017014609.1:c.1032A>G, NR_148732.2:n.1397A>G, NR_148732.1:n.1429A>G, NM_001354295.2:c.1032A>G, NM_001354295.1:c.1032A>G, NR_148733.2:n.1247A>G, NR_148733.1:n.1279A>G, NM_001354298.2:c.1032A>G, NM_001354298.1:c.1032A>G, NM_001354294.2:c.1032A>G, NM_001354294.1:c.1032A>G, NM_001354300.2:c.1032A>G, NM_001354300.1:c.1032A>G, NM_001354293.2:c.1032A>G, NM_001354293.1:c.1032A>G, XM_047423182.1:c.1032A>G, XM_047423180.1:c.1032A>G, XM_047423193.1:c.1032A>G, XM_047423189.1:c.1032A>G, XM_047423181.1:c.1032A>G, XM_047423200.1:c.1032A>G, XM_047423194.1:c.1032A>G, XM_047423177.1:c.1032A>G, XM_047423205.1:c.1032A>G, XM_047423179.1:c.1032A>G, XM_047423186.1:c.1032A>G, XM_047423178.1:c.1032A>G, XM_047423187.1:c.1032A>G, XM_047423185.1:c.1032A>G, XM_047423207.1:c.1032A>G, XM_047423192.1:c.1032A>G, XM_047423190.1:c.1032A>G, XM_047423188.1:c.1032A>G, XM_047423195.1:c.1032A>G, XM_047423191.1:c.1032A>G, XM_047423202.1:c.1032A>G, XM_047423198.1:c.1032A>G, XM_047423201.1:c.1032A>G, XM_047423196.1:c.1032A>G, XM_047423183.1:c.1032A>G, XM_047423197.1:c.1032A>G, XM_047423208.1:c.1032A>G, XM_047423203.1:c.1032A>G, XM_047423184.1:c.1032A>G, XM_047423209.1:c.1032A>G, XM_047423199.1:c.1032A>G, XM_047423204.1:c.1032A>G, XM_047423206.1:c.1032A>G

                                16.

                                rs1450477488 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:125302688 (GRCh38)
                                  9:128064967 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:125302687:G:A
                                  Gene:
                                  GAPVD1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.125302688G>A, NC_000009.11:g.128064967G>A, NM_015635.4:c.891G>A, NM_015635.3:c.891G>A, NM_015635.2:c.891G>A, XM_005251904.4:c.891G>A, XM_005251904.3:c.891G>A, XM_005251904.2:c.891G>A, XM_005251904.1:c.891G>A, XM_011518500.3:c.891G>A, XM_011518500.2:c.891G>A, XM_011518500.1:c.891G>A, NM_001282680.3:c.891G>A, NM_001282680.2:c.891G>A, NM_001282680.1:c.891G>A, XM_011518499.3:c.891G>A, XM_011518499.2:c.891G>A, XM_011518499.1:c.891G>A, XM_011518506.3:c.891G>A, XM_011518506.2:c.891G>A, XM_011518506.1:c.891G>A, XM_011518507.3:c.891G>A, XM_011518507.2:c.891G>A, XM_011518507.1:c.891G>A, NM_001282681.3:c.891G>A, NM_001282681.2:c.891G>A, NM_001282681.1:c.891G>A, NM_001330778.3:c.891G>A, NM_001330778.2:c.891G>A, NM_001330778.1:c.891G>A, NM_001330777.3:c.891G>A, NM_001330777.2:c.891G>A, NM_001330777.1:c.891G>A, NM_001354299.2:c.891G>A, NM_001354299.1:c.891G>A, NM_001282679.2:c.891G>A, NM_001282679.1:c.891G>A, NM_001354296.2:c.891G>A, NM_001354296.1:c.891G>A, NM_001354301.2:c.891G>A, NM_001354301.1:c.891G>A, NM_001354297.2:c.891G>A, NM_001354297.1:c.891G>A, XM_017014606.2:c.891G>A, XM_017014606.1:c.891G>A, XM_017014609.2:c.891G>A, XM_017014609.1:c.891G>A, NR_148732.2:n.1256G>A, NR_148732.1:n.1288G>A, NM_001354295.2:c.891G>A, NM_001354295.1:c.891G>A, NR_148733.2:n.1106G>A, NR_148733.1:n.1138G>A, NM_001354298.2:c.891G>A, NM_001354298.1:c.891G>A, NM_001354294.2:c.891G>A, NM_001354294.1:c.891G>A, NM_001354300.2:c.891G>A, NM_001354300.1:c.891G>A, NM_001354293.2:c.891G>A, NM_001354293.1:c.891G>A, XM_047423182.1:c.891G>A, XM_047423180.1:c.891G>A, XM_047423193.1:c.891G>A, XM_047423189.1:c.891G>A, XM_047423181.1:c.891G>A, XM_047423200.1:c.891G>A, XM_047423194.1:c.891G>A, XM_047423177.1:c.891G>A, XM_047423205.1:c.891G>A, XM_047423179.1:c.891G>A, XM_047423186.1:c.891G>A, XM_047423178.1:c.891G>A, XM_047423187.1:c.891G>A, XM_047423185.1:c.891G>A, XM_047423207.1:c.891G>A, XM_047423192.1:c.891G>A, XM_047423190.1:c.891G>A, XM_047423188.1:c.891G>A, XM_047423195.1:c.891G>A, XM_047423191.1:c.891G>A, XM_047423202.1:c.891G>A, XM_047423198.1:c.891G>A, XM_047423201.1:c.891G>A, XM_047423196.1:c.891G>A, XM_047423183.1:c.891G>A, XM_047423197.1:c.891G>A, XM_047423208.1:c.891G>A, XM_047423203.1:c.891G>A, XM_047423184.1:c.891G>A, XM_047423209.1:c.891G>A, XM_047423199.1:c.891G>A, XM_047423204.1:c.891G>A, XM_047423206.1:c.891G>A

                                  17.

                                  rs1449973672 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    9:125302530 (GRCh38)
                                    9:128064809 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:125302529:C:G
                                    Gene:
                                    GAPVD1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.125302530C>G, NC_000009.11:g.128064809C>G, NM_015635.4:c.733C>G, NM_015635.3:c.733C>G, NM_015635.2:c.733C>G, XM_005251904.4:c.733C>G, XM_005251904.3:c.733C>G, XM_005251904.2:c.733C>G, XM_005251904.1:c.733C>G, XM_011518500.3:c.733C>G, XM_011518500.2:c.733C>G, XM_011518500.1:c.733C>G, NM_001282680.3:c.733C>G, NM_001282680.2:c.733C>G, NM_001282680.1:c.733C>G, XM_011518499.3:c.733C>G, XM_011518499.2:c.733C>G, XM_011518499.1:c.733C>G, XM_011518506.3:c.733C>G, XM_011518506.2:c.733C>G, XM_011518506.1:c.733C>G, XM_011518507.3:c.733C>G, XM_011518507.2:c.733C>G, XM_011518507.1:c.733C>G, NM_001282681.3:c.733C>G, NM_001282681.2:c.733C>G, NM_001282681.1:c.733C>G, NM_001330778.3:c.733C>G, NM_001330778.2:c.733C>G, NM_001330778.1:c.733C>G, NM_001330777.3:c.733C>G, NM_001330777.2:c.733C>G, NM_001330777.1:c.733C>G, NM_001354299.2:c.733C>G, NM_001354299.1:c.733C>G, NM_001282679.2:c.733C>G, NM_001282679.1:c.733C>G, NM_001354296.2:c.733C>G, NM_001354296.1:c.733C>G, NM_001354301.2:c.733C>G, NM_001354301.1:c.733C>G, NM_001354297.2:c.733C>G, NM_001354297.1:c.733C>G, XM_017014606.2:c.733C>G, XM_017014606.1:c.733C>G, XM_017014609.2:c.733C>G, XM_017014609.1:c.733C>G, NR_148732.2:n.1098C>G, NR_148732.1:n.1130C>G, NM_001354295.2:c.733C>G, NM_001354295.1:c.733C>G, NR_148733.2:n.948C>G, NR_148733.1:n.980C>G, NM_001354298.2:c.733C>G, NM_001354298.1:c.733C>G, NM_001354294.2:c.733C>G, NM_001354294.1:c.733C>G, NM_001354300.2:c.733C>G, NM_001354300.1:c.733C>G, NM_001354293.2:c.733C>G, NM_001354293.1:c.733C>G, XM_047423182.1:c.733C>G, XM_047423180.1:c.733C>G, XM_047423193.1:c.733C>G, XM_047423189.1:c.733C>G, XM_047423181.1:c.733C>G, XM_047423200.1:c.733C>G, XM_047423194.1:c.733C>G, XM_047423177.1:c.733C>G, XM_047423205.1:c.733C>G, XM_047423179.1:c.733C>G, XM_047423186.1:c.733C>G, XM_047423178.1:c.733C>G, XM_047423187.1:c.733C>G, XM_047423185.1:c.733C>G, XM_047423207.1:c.733C>G, XM_047423192.1:c.733C>G, XM_047423190.1:c.733C>G, XM_047423188.1:c.733C>G, XM_047423195.1:c.733C>G, XM_047423191.1:c.733C>G, XM_047423202.1:c.733C>G, XM_047423198.1:c.733C>G, XM_047423201.1:c.733C>G, XM_047423196.1:c.733C>G, XM_047423183.1:c.733C>G, XM_047423197.1:c.733C>G, XM_047423208.1:c.733C>G, XM_047423203.1:c.733C>G, XM_047423184.1:c.733C>G, XM_047423209.1:c.733C>G, XM_047423199.1:c.733C>G, XM_047423204.1:c.733C>G, XM_047423206.1:c.733C>G, NP_056450.2:p.Gln245Glu, XP_005251961.1:p.Gln245Glu, XP_011516802.1:p.Gln245Glu, NP_001269609.1:p.Gln245Glu, XP_011516801.1:p.Gln245Glu, XP_011516808.1:p.Gln245Glu, XP_011516809.1:p.Gln245Glu, NP_001269610.1:p.Gln245Glu, NP_001317707.1:p.Gln245Glu, NP_001317706.1:p.Gln245Glu, NP_001341228.1:p.Gln245Glu, NP_001269608.1:p.Gln245Glu, NP_001341225.1:p.Gln245Glu, NP_001341230.1:p.Gln245Glu, NP_001341226.1:p.Gln245Glu, XP_016870095.1:p.Gln245Glu, XP_016870098.1:p.Gln245Glu, NP_001341224.1:p.Gln245Glu, NP_001341227.1:p.Gln245Glu, NP_001341223.1:p.Gln245Glu, NP_001341229.1:p.Gln245Glu, NP_001341222.1:p.Gln245Glu, XP_047279138.1:p.Gln245Glu, XP_047279136.1:p.Gln245Glu, XP_047279149.1:p.Gln245Glu, XP_047279145.1:p.Gln245Glu, XP_047279137.1:p.Gln245Glu, XP_047279156.1:p.Gln245Glu, XP_047279150.1:p.Gln245Glu, XP_047279133.1:p.Gln245Glu, XP_047279161.1:p.Gln245Glu, XP_047279135.1:p.Gln245Glu, XP_047279142.1:p.Gln245Glu, XP_047279134.1:p.Gln245Glu, XP_047279143.1:p.Gln245Glu, XP_047279141.1:p.Gln245Glu, XP_047279163.1:p.Gln245Glu, XP_047279148.1:p.Gln245Glu, XP_047279146.1:p.Gln245Glu, XP_047279144.1:p.Gln245Glu, XP_047279151.1:p.Gln245Glu, XP_047279147.1:p.Gln245Glu, XP_047279158.1:p.Gln245Glu, XP_047279154.1:p.Gln245Glu, XP_047279157.1:p.Gln245Glu, XP_047279152.1:p.Gln245Glu, XP_047279139.1:p.Gln245Glu, XP_047279153.1:p.Gln245Glu, XP_047279164.1:p.Gln245Glu, XP_047279159.1:p.Gln245Glu, XP_047279140.1:p.Gln245Glu, XP_047279165.1:p.Gln245Glu, XP_047279155.1:p.Gln245Glu, XP_047279160.1:p.Gln245Glu, XP_047279162.1:p.Gln245Glu

                                    18.

                                    rs1446869548 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:125302626 (GRCh38)
                                      9:128064905 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:125302625:C:T
                                      Gene:
                                      GAPVD1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.125302626C>T, NC_000009.11:g.128064905C>T, NM_015635.4:c.829C>T, NM_015635.3:c.829C>T, NM_015635.2:c.829C>T, XM_005251904.4:c.829C>T, XM_005251904.3:c.829C>T, XM_005251904.2:c.829C>T, XM_005251904.1:c.829C>T, XM_011518500.3:c.829C>T, XM_011518500.2:c.829C>T, XM_011518500.1:c.829C>T, NM_001282680.3:c.829C>T, NM_001282680.2:c.829C>T, NM_001282680.1:c.829C>T, XM_011518499.3:c.829C>T, XM_011518499.2:c.829C>T, XM_011518499.1:c.829C>T, XM_011518506.3:c.829C>T, XM_011518506.2:c.829C>T, XM_011518506.1:c.829C>T, XM_011518507.3:c.829C>T, XM_011518507.2:c.829C>T, XM_011518507.1:c.829C>T, NM_001282681.3:c.829C>T, NM_001282681.2:c.829C>T, NM_001282681.1:c.829C>T, NM_001330778.3:c.829C>T, NM_001330778.2:c.829C>T, NM_001330778.1:c.829C>T, NM_001330777.3:c.829C>T, NM_001330777.2:c.829C>T, NM_001330777.1:c.829C>T, NM_001354299.2:c.829C>T, NM_001354299.1:c.829C>T, NM_001282679.2:c.829C>T, NM_001282679.1:c.829C>T, NM_001354296.2:c.829C>T, NM_001354296.1:c.829C>T, NM_001354301.2:c.829C>T, NM_001354301.1:c.829C>T, NM_001354297.2:c.829C>T, NM_001354297.1:c.829C>T, XM_017014606.2:c.829C>T, XM_017014606.1:c.829C>T, XM_017014609.2:c.829C>T, XM_017014609.1:c.829C>T, NR_148732.2:n.1194C>T, NR_148732.1:n.1226C>T, NM_001354295.2:c.829C>T, NM_001354295.1:c.829C>T, NR_148733.2:n.1044C>T, NR_148733.1:n.1076C>T, NM_001354298.2:c.829C>T, NM_001354298.1:c.829C>T, NM_001354294.2:c.829C>T, NM_001354294.1:c.829C>T, NM_001354300.2:c.829C>T, NM_001354300.1:c.829C>T, NM_001354293.2:c.829C>T, NM_001354293.1:c.829C>T, XM_047423182.1:c.829C>T, XM_047423180.1:c.829C>T, XM_047423193.1:c.829C>T, XM_047423189.1:c.829C>T, XM_047423181.1:c.829C>T, XM_047423200.1:c.829C>T, XM_047423194.1:c.829C>T, XM_047423177.1:c.829C>T, XM_047423205.1:c.829C>T, XM_047423179.1:c.829C>T, XM_047423186.1:c.829C>T, XM_047423178.1:c.829C>T, XM_047423187.1:c.829C>T, XM_047423185.1:c.829C>T, XM_047423207.1:c.829C>T, XM_047423192.1:c.829C>T, XM_047423190.1:c.829C>T, XM_047423188.1:c.829C>T, XM_047423195.1:c.829C>T, XM_047423191.1:c.829C>T, XM_047423202.1:c.829C>T, XM_047423198.1:c.829C>T, XM_047423201.1:c.829C>T, XM_047423196.1:c.829C>T, XM_047423183.1:c.829C>T, XM_047423197.1:c.829C>T, XM_047423208.1:c.829C>T, XM_047423203.1:c.829C>T, XM_047423184.1:c.829C>T, XM_047423209.1:c.829C>T, XM_047423199.1:c.829C>T, XM_047423204.1:c.829C>T, XM_047423206.1:c.829C>T, NP_056450.2:p.Pro277Ser, XP_005251961.1:p.Pro277Ser, XP_011516802.1:p.Pro277Ser, NP_001269609.1:p.Pro277Ser, XP_011516801.1:p.Pro277Ser, XP_011516808.1:p.Pro277Ser, XP_011516809.1:p.Pro277Ser, NP_001269610.1:p.Pro277Ser, NP_001317707.1:p.Pro277Ser, NP_001317706.1:p.Pro277Ser, NP_001341228.1:p.Pro277Ser, NP_001269608.1:p.Pro277Ser, NP_001341225.1:p.Pro277Ser, NP_001341230.1:p.Pro277Ser, NP_001341226.1:p.Pro277Ser, XP_016870095.1:p.Pro277Ser, XP_016870098.1:p.Pro277Ser, NP_001341224.1:p.Pro277Ser, NP_001341227.1:p.Pro277Ser, NP_001341223.1:p.Pro277Ser, NP_001341229.1:p.Pro277Ser, NP_001341222.1:p.Pro277Ser, XP_047279138.1:p.Pro277Ser, XP_047279136.1:p.Pro277Ser, XP_047279149.1:p.Pro277Ser, XP_047279145.1:p.Pro277Ser, XP_047279137.1:p.Pro277Ser, XP_047279156.1:p.Pro277Ser, XP_047279150.1:p.Pro277Ser, XP_047279133.1:p.Pro277Ser, XP_047279161.1:p.Pro277Ser, XP_047279135.1:p.Pro277Ser, XP_047279142.1:p.Pro277Ser, XP_047279134.1:p.Pro277Ser, XP_047279143.1:p.Pro277Ser, XP_047279141.1:p.Pro277Ser, XP_047279163.1:p.Pro277Ser, XP_047279148.1:p.Pro277Ser, XP_047279146.1:p.Pro277Ser, XP_047279144.1:p.Pro277Ser, XP_047279151.1:p.Pro277Ser, XP_047279147.1:p.Pro277Ser, XP_047279158.1:p.Pro277Ser, XP_047279154.1:p.Pro277Ser, XP_047279157.1:p.Pro277Ser, XP_047279152.1:p.Pro277Ser, XP_047279139.1:p.Pro277Ser, XP_047279153.1:p.Pro277Ser, XP_047279164.1:p.Pro277Ser, XP_047279159.1:p.Pro277Ser, XP_047279140.1:p.Pro277Ser, XP_047279165.1:p.Pro277Ser, XP_047279155.1:p.Pro277Ser, XP_047279160.1:p.Pro277Ser, XP_047279162.1:p.Pro277Ser

                                      19.

                                      rs1446595980 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:125307787 (GRCh38)
                                        9:128070066 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:125307786:G:A
                                        Gene:
                                        GAPVD1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0./0 (KOREAN)
                                        A=0.00004/1 (TOMMO)
                                        HGVS:
                                        NC_000009.12:g.125307787G>A, NC_000009.11:g.128070066G>A, NM_015635.4:c.1348G>A, NM_015635.3:c.1348G>A, NM_015635.2:c.1348G>A, XM_005251904.4:c.1348G>A, XM_005251904.3:c.1348G>A, XM_005251904.2:c.1348G>A, XM_005251904.1:c.1348G>A, XM_011518500.3:c.1348G>A, XM_011518500.2:c.1348G>A, XM_011518500.1:c.1348G>A, NM_001282680.3:c.1348G>A, NM_001282680.2:c.1348G>A, NM_001282680.1:c.1348G>A, XM_011518499.3:c.1348G>A, XM_011518499.2:c.1348G>A, XM_011518499.1:c.1348G>A, XM_011518506.3:c.1348G>A, XM_011518506.2:c.1348G>A, XM_011518506.1:c.1348G>A, XM_011518507.3:c.1348G>A, XM_011518507.2:c.1348G>A, XM_011518507.1:c.1348G>A, NM_001282681.3:c.1348G>A, NM_001282681.2:c.1348G>A, NM_001282681.1:c.1348G>A, NM_001330778.3:c.1348G>A, NM_001330778.2:c.1348G>A, NM_001330778.1:c.1348G>A, NM_001330777.3:c.1348G>A, NM_001330777.2:c.1348G>A, NM_001330777.1:c.1348G>A, NM_001354299.2:c.1348G>A, NM_001354299.1:c.1348G>A, NM_001282679.2:c.1348G>A, NM_001282679.1:c.1348G>A, NM_001354296.2:c.1348G>A, NM_001354296.1:c.1348G>A, NM_001354301.2:c.1348G>A, NM_001354301.1:c.1348G>A, NM_001354297.2:c.1348G>A, NM_001354297.1:c.1348G>A, XM_017014606.2:c.1348G>A, XM_017014606.1:c.1348G>A, XM_017014609.2:c.1348G>A, XM_017014609.1:c.1348G>A, NR_148732.2:n.1713G>A, NR_148732.1:n.1745G>A, NM_001354295.2:c.1348G>A, NM_001354295.1:c.1348G>A, NR_148733.2:n.1563G>A, NR_148733.1:n.1595G>A, NM_001354298.2:c.1348G>A, NM_001354298.1:c.1348G>A, NM_001354294.2:c.1348G>A, NM_001354294.1:c.1348G>A, NM_001354300.2:c.1348G>A, NM_001354300.1:c.1348G>A, NM_001354293.2:c.1348G>A, NM_001354293.1:c.1348G>A, XM_047423182.1:c.1348G>A, XM_047423180.1:c.1348G>A, XM_047423193.1:c.1348G>A, XM_047423189.1:c.1348G>A, XM_047423181.1:c.1348G>A, XM_047423200.1:c.1348G>A, XM_047423194.1:c.1348G>A, XM_047423177.1:c.1348G>A, XM_047423205.1:c.1348G>A, XM_047423179.1:c.1348G>A, XM_047423186.1:c.1348G>A, XM_047423178.1:c.1348G>A, XM_047423187.1:c.1348G>A, XM_047423185.1:c.1348G>A, XM_047423207.1:c.1348G>A, XM_047423192.1:c.1348G>A, XM_047423190.1:c.1348G>A, XM_047423188.1:c.1348G>A, XM_047423195.1:c.1348G>A, XM_047423191.1:c.1348G>A, XM_047423202.1:c.1348G>A, XM_047423198.1:c.1348G>A, XM_047423201.1:c.1348G>A, XM_047423196.1:c.1348G>A, XM_047423183.1:c.1348G>A, XM_047423197.1:c.1348G>A, XM_047423208.1:c.1348G>A, XM_047423203.1:c.1348G>A, XM_047423184.1:c.1348G>A, XM_047423209.1:c.1348G>A, XM_047423199.1:c.1348G>A, XM_047423204.1:c.1348G>A, XM_047423206.1:c.1348G>A, NP_056450.2:p.Gly450Arg, XP_005251961.1:p.Gly450Arg, XP_011516802.1:p.Gly450Arg, NP_001269609.1:p.Gly450Arg, XP_011516801.1:p.Gly450Arg, XP_011516808.1:p.Gly450Arg, XP_011516809.1:p.Gly450Arg, NP_001269610.1:p.Gly450Arg, NP_001317707.1:p.Gly450Arg, NP_001317706.1:p.Gly450Arg, NP_001341228.1:p.Gly450Arg, NP_001269608.1:p.Gly450Arg, NP_001341225.1:p.Gly450Arg, NP_001341230.1:p.Gly450Arg, NP_001341226.1:p.Gly450Arg, XP_016870095.1:p.Gly450Arg, XP_016870098.1:p.Gly450Arg, NP_001341224.1:p.Gly450Arg, NP_001341227.1:p.Gly450Arg, NP_001341223.1:p.Gly450Arg, NP_001341229.1:p.Gly450Arg, NP_001341222.1:p.Gly450Arg, XP_047279138.1:p.Gly450Arg, XP_047279136.1:p.Gly450Arg, XP_047279149.1:p.Gly450Arg, XP_047279145.1:p.Gly450Arg, XP_047279137.1:p.Gly450Arg, XP_047279156.1:p.Gly450Arg, XP_047279150.1:p.Gly450Arg, XP_047279133.1:p.Gly450Arg, XP_047279161.1:p.Gly450Arg, XP_047279135.1:p.Gly450Arg, XP_047279142.1:p.Gly450Arg, XP_047279134.1:p.Gly450Arg, XP_047279143.1:p.Gly450Arg, XP_047279141.1:p.Gly450Arg, XP_047279163.1:p.Gly450Arg, XP_047279148.1:p.Gly450Arg, XP_047279146.1:p.Gly450Arg, XP_047279144.1:p.Gly450Arg, XP_047279151.1:p.Gly450Arg, XP_047279147.1:p.Gly450Arg, XP_047279158.1:p.Gly450Arg, XP_047279154.1:p.Gly450Arg, XP_047279157.1:p.Gly450Arg, XP_047279152.1:p.Gly450Arg, XP_047279139.1:p.Gly450Arg, XP_047279153.1:p.Gly450Arg, XP_047279164.1:p.Gly450Arg, XP_047279159.1:p.Gly450Arg, XP_047279140.1:p.Gly450Arg, XP_047279165.1:p.Gly450Arg, XP_047279155.1:p.Gly450Arg, XP_047279160.1:p.Gly450Arg, XP_047279162.1:p.Gly450Arg

                                        20.

                                        rs1445478791 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          9:125307446 (GRCh38)
                                          9:128069725 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:125307445:G:A
                                          Gene:
                                          GAPVD1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000009.12:g.125307446G>A, NC_000009.11:g.128069725G>A, NM_015635.4:c.1150G>A, NM_015635.3:c.1150G>A, NM_015635.2:c.1150G>A, XM_005251904.4:c.1150G>A, XM_005251904.3:c.1150G>A, XM_005251904.2:c.1150G>A, XM_005251904.1:c.1150G>A, XM_011518500.3:c.1150G>A, XM_011518500.2:c.1150G>A, XM_011518500.1:c.1150G>A, NM_001282680.3:c.1150G>A, NM_001282680.2:c.1150G>A, NM_001282680.1:c.1150G>A, XM_011518499.3:c.1150G>A, XM_011518499.2:c.1150G>A, XM_011518499.1:c.1150G>A, XM_011518506.3:c.1150G>A, XM_011518506.2:c.1150G>A, XM_011518506.1:c.1150G>A, XM_011518507.3:c.1150G>A, XM_011518507.2:c.1150G>A, XM_011518507.1:c.1150G>A, NM_001282681.3:c.1150G>A, NM_001282681.2:c.1150G>A, NM_001282681.1:c.1150G>A, NM_001330778.3:c.1150G>A, NM_001330778.2:c.1150G>A, NM_001330778.1:c.1150G>A, NM_001330777.3:c.1150G>A, NM_001330777.2:c.1150G>A, NM_001330777.1:c.1150G>A, NM_001354299.2:c.1150G>A, NM_001354299.1:c.1150G>A, NM_001282679.2:c.1150G>A, NM_001282679.1:c.1150G>A, NM_001354296.2:c.1150G>A, NM_001354296.1:c.1150G>A, NM_001354301.2:c.1150G>A, NM_001354301.1:c.1150G>A, NM_001354297.2:c.1150G>A, NM_001354297.1:c.1150G>A, XM_017014606.2:c.1150G>A, XM_017014606.1:c.1150G>A, XM_017014609.2:c.1150G>A, XM_017014609.1:c.1150G>A, NR_148732.2:n.1515G>A, NR_148732.1:n.1547G>A, NM_001354295.2:c.1150G>A, NM_001354295.1:c.1150G>A, NR_148733.2:n.1365G>A, NR_148733.1:n.1397G>A, NM_001354298.2:c.1150G>A, NM_001354298.1:c.1150G>A, NM_001354294.2:c.1150G>A, NM_001354294.1:c.1150G>A, NM_001354300.2:c.1150G>A, NM_001354300.1:c.1150G>A, NM_001354293.2:c.1150G>A, NM_001354293.1:c.1150G>A, XM_047423182.1:c.1150G>A, XM_047423180.1:c.1150G>A, XM_047423193.1:c.1150G>A, XM_047423189.1:c.1150G>A, XM_047423181.1:c.1150G>A, XM_047423200.1:c.1150G>A, XM_047423194.1:c.1150G>A, XM_047423177.1:c.1150G>A, XM_047423205.1:c.1150G>A, XM_047423179.1:c.1150G>A, XM_047423186.1:c.1150G>A, XM_047423178.1:c.1150G>A, XM_047423187.1:c.1150G>A, XM_047423185.1:c.1150G>A, XM_047423207.1:c.1150G>A, XM_047423192.1:c.1150G>A, XM_047423190.1:c.1150G>A, XM_047423188.1:c.1150G>A, XM_047423195.1:c.1150G>A, XM_047423191.1:c.1150G>A, XM_047423202.1:c.1150G>A, XM_047423198.1:c.1150G>A, XM_047423201.1:c.1150G>A, XM_047423196.1:c.1150G>A, XM_047423183.1:c.1150G>A, XM_047423197.1:c.1150G>A, XM_047423208.1:c.1150G>A, XM_047423203.1:c.1150G>A, XM_047423184.1:c.1150G>A, XM_047423209.1:c.1150G>A, XM_047423199.1:c.1150G>A, XM_047423204.1:c.1150G>A, XM_047423206.1:c.1150G>A, NP_056450.2:p.Gly384Arg, XP_005251961.1:p.Gly384Arg, XP_011516802.1:p.Gly384Arg, NP_001269609.1:p.Gly384Arg, XP_011516801.1:p.Gly384Arg, XP_011516808.1:p.Gly384Arg, XP_011516809.1:p.Gly384Arg, NP_001269610.1:p.Gly384Arg, NP_001317707.1:p.Gly384Arg, NP_001317706.1:p.Gly384Arg, NP_001341228.1:p.Gly384Arg, NP_001269608.1:p.Gly384Arg, NP_001341225.1:p.Gly384Arg, NP_001341230.1:p.Gly384Arg, NP_001341226.1:p.Gly384Arg, XP_016870095.1:p.Gly384Arg, XP_016870098.1:p.Gly384Arg, NP_001341224.1:p.Gly384Arg, NP_001341227.1:p.Gly384Arg, NP_001341223.1:p.Gly384Arg, NP_001341229.1:p.Gly384Arg, NP_001341222.1:p.Gly384Arg, XP_047279138.1:p.Gly384Arg, XP_047279136.1:p.Gly384Arg, XP_047279149.1:p.Gly384Arg, XP_047279145.1:p.Gly384Arg, XP_047279137.1:p.Gly384Arg, XP_047279156.1:p.Gly384Arg, XP_047279150.1:p.Gly384Arg, XP_047279133.1:p.Gly384Arg, XP_047279161.1:p.Gly384Arg, XP_047279135.1:p.Gly384Arg, XP_047279142.1:p.Gly384Arg, XP_047279134.1:p.Gly384Arg, XP_047279143.1:p.Gly384Arg, XP_047279141.1:p.Gly384Arg, XP_047279163.1:p.Gly384Arg, XP_047279148.1:p.Gly384Arg, XP_047279146.1:p.Gly384Arg, XP_047279144.1:p.Gly384Arg, XP_047279151.1:p.Gly384Arg, XP_047279147.1:p.Gly384Arg, XP_047279158.1:p.Gly384Arg, XP_047279154.1:p.Gly384Arg, XP_047279157.1:p.Gly384Arg, XP_047279152.1:p.Gly384Arg, XP_047279139.1:p.Gly384Arg, XP_047279153.1:p.Gly384Arg, XP_047279164.1:p.Gly384Arg, XP_047279159.1:p.Gly384Arg, XP_047279140.1:p.Gly384Arg, XP_047279165.1:p.Gly384Arg, XP_047279155.1:p.Gly384Arg, XP_047279160.1:p.Gly384Arg, XP_047279162.1:p.Gly384Arg

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