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Items: 1 to 20 of 1148

1.

rs1489338175 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    9:125359475 (GRCh38)
    9:128121754 (GRCh37)
    Canonical SPDI:
    NC_000009.12:125359474:G:C
    Gene:
    GAPVD1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.125359475G>C, NC_000009.11:g.128121754G>C, NM_015635.4:c.4108G>C, NM_015635.3:c.4108G>C, NM_015635.2:c.4108G>C, XM_005251904.4:c.3946G>C, XM_005251904.3:c.3946G>C, XM_005251904.2:c.3946G>C, XM_005251904.1:c.3946G>C, XM_011518500.3:c.4108G>C, XM_011518500.2:c.4108G>C, XM_011518500.1:c.4108G>C, NM_001282680.3:c.4027G>C, NM_001282680.2:c.4027G>C, NM_001282680.1:c.4027G>C, XM_011518499.3:c.4108G>C, XM_011518499.2:c.4108G>C, XM_011518499.1:c.4108G>C, XM_011518506.3:c.4045G>C, XM_011518506.2:c.4045G>C, XM_011518506.1:c.4045G>C, XM_011518507.3:c.4027G>C, XM_011518507.2:c.4027G>C, XM_011518507.1:c.4027G>C, NM_001282681.3:c.3964G>C, NM_001282681.2:c.3964G>C, NM_001282681.1:c.3964G>C, NM_001330778.3:c.3946G>C, NM_001330778.2:c.3946G>C, NM_001330778.1:c.3946G>C, NM_001330777.3:c.3883G>C, NM_001330777.2:c.3883G>C, NM_001330777.1:c.3883G>C, NM_001354299.2:c.4027G>C, NM_001354299.1:c.4027G>C, NM_001282679.2:c.4081G>C, NM_001282679.1:c.4081G>C, NM_001354296.2:c.4027G>C, NM_001354296.1:c.4027G>C, NM_001354301.2:c.4027G>C, NM_001354301.1:c.4027G>C, NM_001354297.2:c.3964G>C, NM_001354297.1:c.3964G>C, XM_017014606.2:c.3964G>C, XM_017014606.1:c.3964G>C, XM_017014609.2:c.3946G>C, XM_017014609.1:c.3946G>C, NR_148732.2:n.4268G>C, NR_148732.1:n.4300G>C, NM_001354295.2:c.4027G>C, NM_001354295.1:c.4027G>C, NR_148733.2:n.4199G>C, NR_148733.1:n.4231G>C, NM_001354298.2:c.4027G>C, NM_001354298.1:c.4027G>C, NM_001354294.2:c.4027G>C, NM_001354294.1:c.4027G>C, NM_001354300.2:c.3964G>C, NM_001354300.1:c.3964G>C, XM_047423182.1:c.4108G>C, XM_047423180.1:c.4108G>C, XM_047423193.1:c.4027G>C, XM_047423189.1:c.4027G>C, XM_047423181.1:c.4108G>C, XM_047423200.1:c.3964G>C, XM_047423194.1:c.3964G>C, XM_047423177.1:c.4108G>C, XM_047423205.1:c.3946G>C, XM_047423179.1:c.4108G>C, XM_047423186.1:c.4045G>C, XM_047423178.1:c.4108G>C, XM_047423187.1:c.4045G>C, XM_047423185.1:c.4045G>C, XM_047423207.1:c.3883G>C, XM_047423192.1:c.4027G>C, XM_047423190.1:c.4027G>C, XM_047423188.1:c.4045G>C, XM_047423195.1:c.3964G>C, XM_047423191.1:c.4027G>C, XM_047423202.1:c.3946G>C, XM_047423198.1:c.3964G>C, XM_047423201.1:c.3946G>C, XM_047423196.1:c.3964G>C, XM_047423183.1:c.4108G>C, XM_047423197.1:c.3964G>C, XM_047423208.1:c.3883G>C, XM_047423203.1:c.3946G>C, XM_047423184.1:c.4045G>C, XM_047423209.1:c.3883G>C, XM_047423199.1:c.3964G>C, XM_047423204.1:c.3946G>C, XM_047423206.1:c.3883G>C, NP_056450.2:p.Ala1370Pro, XP_005251961.1:p.Ala1316Pro, XP_011516802.1:p.Ala1370Pro, NP_001269609.1:p.Ala1343Pro, XP_011516801.1:p.Ala1370Pro, XP_011516808.1:p.Ala1349Pro, XP_011516809.1:p.Ala1343Pro, NP_001269610.1:p.Ala1322Pro, NP_001317707.1:p.Ala1316Pro, NP_001317706.1:p.Ala1295Pro, NP_001341228.1:p.Ala1343Pro, NP_001269608.1:p.Ala1361Pro, NP_001341225.1:p.Ala1343Pro, NP_001341230.1:p.Ala1343Pro, NP_001341226.1:p.Ala1322Pro, XP_016870095.1:p.Ala1322Pro, XP_016870098.1:p.Ala1316Pro, NP_001341224.1:p.Ala1343Pro, NP_001341227.1:p.Ala1343Pro, NP_001341223.1:p.Ala1343Pro, NP_001341229.1:p.Ala1322Pro, XP_047279138.1:p.Ala1370Pro, XP_047279136.1:p.Ala1370Pro, XP_047279149.1:p.Ala1343Pro, XP_047279145.1:p.Ala1343Pro, XP_047279137.1:p.Ala1370Pro, XP_047279156.1:p.Ala1322Pro, XP_047279150.1:p.Ala1322Pro, XP_047279133.1:p.Ala1370Pro, XP_047279161.1:p.Ala1316Pro, XP_047279135.1:p.Ala1370Pro, XP_047279142.1:p.Ala1349Pro, XP_047279134.1:p.Ala1370Pro, XP_047279143.1:p.Ala1349Pro, XP_047279141.1:p.Ala1349Pro, XP_047279163.1:p.Ala1295Pro, XP_047279148.1:p.Ala1343Pro, XP_047279146.1:p.Ala1343Pro, XP_047279144.1:p.Ala1349Pro, XP_047279151.1:p.Ala1322Pro, XP_047279147.1:p.Ala1343Pro, XP_047279158.1:p.Ala1316Pro, XP_047279154.1:p.Ala1322Pro, XP_047279157.1:p.Ala1316Pro, XP_047279152.1:p.Ala1322Pro, XP_047279139.1:p.Ala1370Pro, XP_047279153.1:p.Ala1322Pro, XP_047279164.1:p.Ala1295Pro, XP_047279159.1:p.Ala1316Pro, XP_047279140.1:p.Ala1349Pro, XP_047279165.1:p.Ala1295Pro, XP_047279155.1:p.Ala1322Pro, XP_047279160.1:p.Ala1316Pro, XP_047279162.1:p.Ala1295Pro

    2.

    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

      3.

      rs1487178933 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:125337039 (GRCh38)
        9:128099318 (GRCh37)
        Canonical SPDI:
        NC_000009.12:125337038:C:T
        Gene:
        GAPVD1 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000009.12:g.125337039C>T, NC_000009.11:g.128099318C>T, NM_015635.4:c.2531C>T, NM_015635.3:c.2531C>T, NM_015635.2:c.2531C>T, XM_005251904.4:c.2450C>T, XM_005251904.3:c.2450C>T, XM_005251904.2:c.2450C>T, XM_005251904.1:c.2450C>T, XM_011518500.3:c.2531C>T, XM_011518500.2:c.2531C>T, XM_011518500.1:c.2531C>T, NM_001282680.3:c.2450C>T, NM_001282680.2:c.2450C>T, NM_001282680.1:c.2450C>T, XM_011518499.3:c.2531C>T, XM_011518499.2:c.2531C>T, XM_011518499.1:c.2531C>T, XM_011518506.3:c.2468C>T, XM_011518506.2:c.2468C>T, XM_011518506.1:c.2468C>T, XM_011518507.3:c.2531C>T, XM_011518507.2:c.2531C>T, XM_011518507.1:c.2531C>T, NM_001282681.3:c.2387C>T, NM_001282681.2:c.2387C>T, NM_001282681.1:c.2387C>T, NM_001330778.3:c.2450C>T, NM_001330778.2:c.2450C>T, NM_001330778.1:c.2450C>T, NM_001330777.3:c.2387C>T, NM_001330777.2:c.2387C>T, NM_001330777.1:c.2387C>T, NM_001354299.2:c.2450C>T, NM_001354299.1:c.2450C>T, NM_001282679.2:c.2450C>T, NM_001282679.1:c.2450C>T, NM_001354296.2:c.2450C>T, NM_001354296.1:c.2450C>T, NM_001354301.2:c.2450C>T, NM_001354301.1:c.2450C>T, NM_001354297.2:c.2387C>T, NM_001354297.1:c.2387C>T, XM_017014606.2:c.2387C>T, XM_017014606.1:c.2387C>T, XM_017014609.2:c.2450C>T, XM_017014609.1:c.2450C>T, NR_148732.2:n.2772C>T, NR_148732.1:n.2804C>T, NM_001354295.2:c.2450C>T, NM_001354295.1:c.2450C>T, NR_148733.2:n.2622C>T, NR_148733.1:n.2654C>T, NM_001354298.2:c.2531C>T, NM_001354298.1:c.2531C>T, NM_001354294.2:c.2450C>T, NM_001354294.1:c.2450C>T, NM_001354300.2:c.2387C>T, NM_001354300.1:c.2387C>T, XM_047423182.1:c.2531C>T, XM_047423180.1:c.2531C>T, XM_047423193.1:c.2450C>T, XM_047423189.1:c.2450C>T, XM_047423181.1:c.2531C>T, XM_047423200.1:c.2387C>T, XM_047423194.1:c.2387C>T, XM_047423177.1:c.2531C>T, XM_047423205.1:c.2450C>T, XM_047423179.1:c.2531C>T, XM_047423186.1:c.2468C>T, XM_047423178.1:c.2531C>T, XM_047423187.1:c.2468C>T, XM_047423185.1:c.2468C>T, XM_047423207.1:c.2387C>T, XM_047423192.1:c.2531C>T, XM_047423190.1:c.2450C>T, XM_047423188.1:c.2468C>T, XM_047423195.1:c.2387C>T, XM_047423191.1:c.2450C>T, XM_047423202.1:c.2450C>T, XM_047423198.1:c.2468C>T, XM_047423201.1:c.2450C>T, XM_047423196.1:c.2387C>T, XM_047423183.1:c.2531C>T, XM_047423197.1:c.2387C>T, XM_047423208.1:c.2387C>T, XM_047423203.1:c.2450C>T, XM_047423184.1:c.2468C>T, XM_047423209.1:c.2387C>T, XM_047423199.1:c.2468C>T, XM_047423204.1:c.2450C>T, XM_047423206.1:c.2387C>T, NP_056450.2:p.Pro844Leu, XP_005251961.1:p.Pro817Leu, XP_011516802.1:p.Pro844Leu, NP_001269609.1:p.Pro817Leu, XP_011516801.1:p.Pro844Leu, XP_011516808.1:p.Pro823Leu, XP_011516809.1:p.Pro844Leu, NP_001269610.1:p.Pro796Leu, NP_001317707.1:p.Pro817Leu, NP_001317706.1:p.Pro796Leu, NP_001341228.1:p.Pro817Leu, NP_001269608.1:p.Pro817Leu, NP_001341225.1:p.Pro817Leu, NP_001341230.1:p.Pro817Leu, NP_001341226.1:p.Pro796Leu, XP_016870095.1:p.Pro796Leu, XP_016870098.1:p.Pro817Leu, NP_001341224.1:p.Pro817Leu, NP_001341227.1:p.Pro844Leu, NP_001341223.1:p.Pro817Leu, NP_001341229.1:p.Pro796Leu, XP_047279138.1:p.Pro844Leu, XP_047279136.1:p.Pro844Leu, XP_047279149.1:p.Pro817Leu, XP_047279145.1:p.Pro817Leu, XP_047279137.1:p.Pro844Leu, XP_047279156.1:p.Pro796Leu, XP_047279150.1:p.Pro796Leu, XP_047279133.1:p.Pro844Leu, XP_047279161.1:p.Pro817Leu, XP_047279135.1:p.Pro844Leu, XP_047279142.1:p.Pro823Leu, XP_047279134.1:p.Pro844Leu, XP_047279143.1:p.Pro823Leu, XP_047279141.1:p.Pro823Leu, XP_047279163.1:p.Pro796Leu, XP_047279148.1:p.Pro844Leu, XP_047279146.1:p.Pro817Leu, XP_047279144.1:p.Pro823Leu, XP_047279151.1:p.Pro796Leu, XP_047279147.1:p.Pro817Leu, XP_047279158.1:p.Pro817Leu, XP_047279154.1:p.Pro823Leu, XP_047279157.1:p.Pro817Leu, XP_047279152.1:p.Pro796Leu, XP_047279139.1:p.Pro844Leu, XP_047279153.1:p.Pro796Leu, XP_047279164.1:p.Pro796Leu, XP_047279159.1:p.Pro817Leu, XP_047279140.1:p.Pro823Leu, XP_047279165.1:p.Pro796Leu, XP_047279155.1:p.Pro823Leu, XP_047279160.1:p.Pro817Leu, XP_047279162.1:p.Pro796Leu

        4.

        rs1485745206 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:125349439 (GRCh38)
          9:128111718 (GRCh37)
          Canonical SPDI:
          NC_000009.12:125349438:A:G
          Gene:
          GAPVD1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.125349439A>G, NC_000009.11:g.128111718A>G, NM_015635.4:c.3300A>G, NM_015635.3:c.3300A>G, NM_015635.2:c.3300A>G, XM_005251904.4:c.3138A>G, XM_005251904.3:c.3138A>G, XM_005251904.2:c.3138A>G, XM_005251904.1:c.3138A>G, XM_011518500.3:c.3300A>G, XM_011518500.2:c.3300A>G, XM_011518500.1:c.3300A>G, NM_001282680.3:c.3219A>G, NM_001282680.2:c.3219A>G, NM_001282680.1:c.3219A>G, XM_011518499.3:c.3300A>G, XM_011518499.2:c.3300A>G, XM_011518499.1:c.3300A>G, XM_011518506.3:c.3237A>G, XM_011518506.2:c.3237A>G, XM_011518506.1:c.3237A>G, XM_011518507.3:c.3219A>G, XM_011518507.2:c.3219A>G, XM_011518507.1:c.3219A>G, NM_001282681.3:c.3156A>G, NM_001282681.2:c.3156A>G, NM_001282681.1:c.3156A>G, NM_001330778.3:c.3138A>G, NM_001330778.2:c.3138A>G, NM_001330778.1:c.3138A>G, NM_001330777.3:c.3075A>G, NM_001330777.2:c.3075A>G, NM_001330777.1:c.3075A>G, NM_001354299.2:c.3219A>G, NM_001354299.1:c.3219A>G, NM_001282679.2:c.3273A>G, NM_001282679.1:c.3273A>G, NM_001354296.2:c.3219A>G, NM_001354296.1:c.3219A>G, NM_001354301.2:c.3219A>G, NM_001354301.1:c.3219A>G, NM_001354297.2:c.3156A>G, NM_001354297.1:c.3156A>G, XM_017014606.2:c.3156A>G, XM_017014606.1:c.3156A>G, XM_017014609.2:c.3138A>G, XM_017014609.1:c.3138A>G, NR_148732.2:n.3460A>G, NR_148732.1:n.3492A>G, NM_001354295.2:c.3219A>G, NM_001354295.1:c.3219A>G, NR_148733.2:n.3391A>G, NR_148733.1:n.3423A>G, NM_001354298.2:c.3219A>G, NM_001354298.1:c.3219A>G, NM_001354294.2:c.3219A>G, NM_001354294.1:c.3219A>G, NM_001354300.2:c.3156A>G, NM_001354300.1:c.3156A>G, XM_047423182.1:c.3300A>G, XM_047423180.1:c.3300A>G, XM_047423193.1:c.3219A>G, XM_047423189.1:c.3219A>G, XM_047423181.1:c.3300A>G, XM_047423200.1:c.3156A>G, XM_047423194.1:c.3156A>G, XM_047423177.1:c.3300A>G, XM_047423205.1:c.3138A>G, XM_047423179.1:c.3300A>G, XM_047423186.1:c.3237A>G, XM_047423178.1:c.3300A>G, XM_047423187.1:c.3237A>G, XM_047423185.1:c.3237A>G, XM_047423207.1:c.3075A>G, XM_047423192.1:c.3219A>G, XM_047423190.1:c.3219A>G, XM_047423188.1:c.3237A>G, XM_047423195.1:c.3156A>G, XM_047423191.1:c.3219A>G, XM_047423202.1:c.3138A>G, XM_047423198.1:c.3156A>G, XM_047423201.1:c.3138A>G, XM_047423196.1:c.3156A>G, XM_047423183.1:c.3300A>G, XM_047423197.1:c.3156A>G, XM_047423208.1:c.3075A>G, XM_047423203.1:c.3138A>G, XM_047423184.1:c.3237A>G, XM_047423209.1:c.3075A>G, XM_047423199.1:c.3156A>G, XM_047423204.1:c.3138A>G, XM_047423206.1:c.3075A>G

          5.

          rs1483791106 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            9:125341260 (GRCh38)
            9:128103539 (GRCh37)
            Canonical SPDI:
            NC_000009.12:125341259:T:C,NC_000009.12:125341259:T:G
            Gene:
            GAPVD1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.125341260T>C, NC_000009.12:g.125341260T>G, NC_000009.11:g.128103539T>C, NC_000009.11:g.128103539T>G, NM_015635.4:c.3042T>C, NM_015635.4:c.3042T>G, NM_015635.3:c.3042T>C, NM_015635.3:c.3042T>G, NM_015635.2:c.3042T>C, NM_015635.2:c.3042T>G, XM_005251904.4:c.2961T>C, XM_005251904.4:c.2961T>G, XM_005251904.3:c.2961T>C, XM_005251904.3:c.2961T>G, XM_005251904.2:c.2961T>C, XM_005251904.2:c.2961T>G, XM_005251904.1:c.2961T>C, XM_005251904.1:c.2961T>G, XM_011518500.3:c.3042T>C, XM_011518500.3:c.3042T>G, XM_011518500.2:c.3042T>C, XM_011518500.2:c.3042T>G, XM_011518500.1:c.3042T>C, XM_011518500.1:c.3042T>G, NM_001282680.3:c.2961T>C, NM_001282680.3:c.2961T>G, NM_001282680.2:c.2961T>C, NM_001282680.2:c.2961T>G, NM_001282680.1:c.2961T>C, NM_001282680.1:c.2961T>G, XM_011518499.3:c.3042T>C, XM_011518499.3:c.3042T>G, XM_011518499.2:c.3042T>C, XM_011518499.2:c.3042T>G, XM_011518499.1:c.3042T>C, XM_011518499.1:c.3042T>G, XM_011518506.3:c.2979T>C, XM_011518506.3:c.2979T>G, XM_011518506.2:c.2979T>C, XM_011518506.2:c.2979T>G, XM_011518506.1:c.2979T>C, XM_011518506.1:c.2979T>G, XM_011518507.3:c.3042T>C, XM_011518507.3:c.3042T>G, XM_011518507.2:c.3042T>C, XM_011518507.2:c.3042T>G, XM_011518507.1:c.3042T>C, XM_011518507.1:c.3042T>G, NM_001282681.3:c.2898T>C, NM_001282681.3:c.2898T>G, NM_001282681.2:c.2898T>C, NM_001282681.2:c.2898T>G, NM_001282681.1:c.2898T>C, NM_001282681.1:c.2898T>G, NM_001330778.3:c.2961T>C, NM_001330778.3:c.2961T>G, NM_001330778.2:c.2961T>C, NM_001330778.2:c.2961T>G, NM_001330778.1:c.2961T>C, NM_001330778.1:c.2961T>G, NM_001330777.3:c.2898T>C, NM_001330777.3:c.2898T>G, NM_001330777.2:c.2898T>C, NM_001330777.2:c.2898T>G, NM_001330777.1:c.2898T>C, NM_001330777.1:c.2898T>G, NM_001354299.2:c.2961T>C, NM_001354299.2:c.2961T>G, NM_001354299.1:c.2961T>C, NM_001354299.1:c.2961T>G, NM_001282679.2:c.2961T>C, NM_001282679.2:c.2961T>G, NM_001282679.1:c.2961T>C, NM_001282679.1:c.2961T>G, NM_001354296.2:c.2961T>C, NM_001354296.2:c.2961T>G, NM_001354296.1:c.2961T>C, NM_001354296.1:c.2961T>G, NM_001354301.2:c.2961T>C, NM_001354301.2:c.2961T>G, NM_001354301.1:c.2961T>C, NM_001354301.1:c.2961T>G, NM_001354297.2:c.2898T>C, NM_001354297.2:c.2898T>G, NM_001354297.1:c.2898T>C, NM_001354297.1:c.2898T>G, XM_017014606.2:c.2898T>C, XM_017014606.2:c.2898T>G, XM_017014606.1:c.2898T>C, XM_017014606.1:c.2898T>G, XM_017014609.2:c.2961T>C, XM_017014609.2:c.2961T>G, XM_017014609.1:c.2961T>C, XM_017014609.1:c.2961T>G, NR_148732.2:n.3283T>C, NR_148732.2:n.3283T>G, NR_148732.1:n.3315T>C, NR_148732.1:n.3315T>G, NM_001354295.2:c.2961T>C, NM_001354295.2:c.2961T>G, NM_001354295.1:c.2961T>C, NM_001354295.1:c.2961T>G, NR_148733.2:n.3133T>C, NR_148733.2:n.3133T>G, NR_148733.1:n.3165T>C, NR_148733.1:n.3165T>G, NM_001354298.2:c.3042T>C, NM_001354298.2:c.3042T>G, NM_001354298.1:c.3042T>C, NM_001354298.1:c.3042T>G, NM_001354294.2:c.2961T>C, NM_001354294.2:c.2961T>G, NM_001354294.1:c.2961T>C, NM_001354294.1:c.2961T>G, NM_001354300.2:c.2898T>C, NM_001354300.2:c.2898T>G, NM_001354300.1:c.2898T>C, NM_001354300.1:c.2898T>G, XM_047423182.1:c.3042T>C, XM_047423182.1:c.3042T>G, XM_047423180.1:c.3042T>C, XM_047423180.1:c.3042T>G, XM_047423193.1:c.2961T>C, XM_047423193.1:c.2961T>G, XM_047423189.1:c.2961T>C, XM_047423189.1:c.2961T>G, XM_047423181.1:c.3042T>C, XM_047423181.1:c.3042T>G, XM_047423200.1:c.2898T>C, XM_047423200.1:c.2898T>G, XM_047423194.1:c.2898T>C, XM_047423194.1:c.2898T>G, XM_047423177.1:c.3042T>C, XM_047423177.1:c.3042T>G, XM_047423205.1:c.2961T>C, XM_047423205.1:c.2961T>G, XM_047423179.1:c.3042T>C, XM_047423179.1:c.3042T>G, XM_047423186.1:c.2979T>C, XM_047423186.1:c.2979T>G, XM_047423178.1:c.3042T>C, XM_047423178.1:c.3042T>G, XM_047423187.1:c.2979T>C, XM_047423187.1:c.2979T>G, XM_047423185.1:c.2979T>C, XM_047423185.1:c.2979T>G, XM_047423207.1:c.2898T>C, XM_047423207.1:c.2898T>G, XM_047423192.1:c.3042T>C, XM_047423192.1:c.3042T>G, XM_047423190.1:c.2961T>C, XM_047423190.1:c.2961T>G, XM_047423188.1:c.2979T>C, XM_047423188.1:c.2979T>G, XM_047423195.1:c.2898T>C, XM_047423195.1:c.2898T>G, XM_047423191.1:c.2961T>C, XM_047423191.1:c.2961T>G, XM_047423202.1:c.2961T>C, XM_047423202.1:c.2961T>G, XM_047423198.1:c.2979T>C, XM_047423198.1:c.2979T>G, XM_047423201.1:c.2961T>C, XM_047423201.1:c.2961T>G, XM_047423196.1:c.2898T>C, XM_047423196.1:c.2898T>G, XM_047423183.1:c.3042T>C, XM_047423183.1:c.3042T>G, XM_047423197.1:c.2898T>C, XM_047423197.1:c.2898T>G, XM_047423208.1:c.2898T>C, XM_047423208.1:c.2898T>G, XM_047423203.1:c.2961T>C, XM_047423203.1:c.2961T>G, XM_047423184.1:c.2979T>C, XM_047423184.1:c.2979T>G, XM_047423209.1:c.2898T>C, XM_047423209.1:c.2898T>G, XM_047423199.1:c.2979T>C, XM_047423199.1:c.2979T>G, XM_047423204.1:c.2961T>C, XM_047423204.1:c.2961T>G, XM_047423206.1:c.2898T>C, XM_047423206.1:c.2898T>G

            6.

            rs1483047723 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:125312485 (GRCh38)
              9:128074764 (GRCh37)
              Canonical SPDI:
              NC_000009.12:125312484:T:C
              Gene:
              GAPVD1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_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)
              C=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.125312485T>C, NC_000009.11:g.128074764T>C, NM_015635.4:c.1475T>C, NM_015635.3:c.1475T>C, NM_015635.2:c.1475T>C, XM_005251904.4:c.1475T>C, XM_005251904.3:c.1475T>C, XM_005251904.2:c.1475T>C, XM_005251904.1:c.1475T>C, XM_011518500.3:c.1475T>C, XM_011518500.2:c.1475T>C, XM_011518500.1:c.1475T>C, NM_001282680.3:c.1475T>C, NM_001282680.2:c.1475T>C, NM_001282680.1:c.1475T>C, XM_011518499.3:c.1475T>C, XM_011518499.2:c.1475T>C, XM_011518499.1:c.1475T>C, XM_011518506.3:c.1475T>C, XM_011518506.2:c.1475T>C, XM_011518506.1:c.1475T>C, XM_011518507.3:c.1475T>C, XM_011518507.2:c.1475T>C, XM_011518507.1:c.1475T>C, NM_001282681.3:c.1475T>C, NM_001282681.2:c.1475T>C, NM_001282681.1:c.1475T>C, NM_001330778.3:c.1475T>C, NM_001330778.2:c.1475T>C, NM_001330778.1:c.1475T>C, NM_001330777.3:c.1475T>C, NM_001330777.2:c.1475T>C, NM_001330777.1:c.1475T>C, NM_001354299.2:c.1475T>C, NM_001354299.1:c.1475T>C, NM_001282679.2:c.1475T>C, NM_001282679.1:c.1475T>C, NM_001354296.2:c.1475T>C, NM_001354296.1:c.1475T>C, NM_001354301.2:c.1475T>C, NM_001354301.1:c.1475T>C, NM_001354297.2:c.1475T>C, NM_001354297.1:c.1475T>C, XM_017014606.2:c.1475T>C, XM_017014606.1:c.1475T>C, XM_017014609.2:c.1475T>C, XM_017014609.1:c.1475T>C, NR_148732.2:n.1840T>C, NR_148732.1:n.1872T>C, NM_001354295.2:c.1475T>C, NM_001354295.1:c.1475T>C, NR_148733.2:n.1690T>C, NR_148733.1:n.1722T>C, NM_001354298.2:c.1475T>C, NM_001354298.1:c.1475T>C, NM_001354294.2:c.1475T>C, NM_001354294.1:c.1475T>C, NM_001354300.2:c.1475T>C, NM_001354300.1:c.1475T>C, XM_047423182.1:c.1475T>C, XM_047423180.1:c.1475T>C, XM_047423193.1:c.1475T>C, XM_047423189.1:c.1475T>C, XM_047423181.1:c.1475T>C, XM_047423200.1:c.1475T>C, XM_047423194.1:c.1475T>C, XM_047423177.1:c.1475T>C, XM_047423205.1:c.1475T>C, XM_047423179.1:c.1475T>C, XM_047423186.1:c.1475T>C, XM_047423178.1:c.1475T>C, XM_047423187.1:c.1475T>C, XM_047423185.1:c.1475T>C, XM_047423207.1:c.1475T>C, XM_047423192.1:c.1475T>C, XM_047423190.1:c.1475T>C, XM_047423188.1:c.1475T>C, XM_047423195.1:c.1475T>C, XM_047423191.1:c.1475T>C, XM_047423202.1:c.1475T>C, XM_047423198.1:c.1475T>C, XM_047423201.1:c.1475T>C, XM_047423196.1:c.1475T>C, XM_047423183.1:c.1475T>C, XM_047423197.1:c.1475T>C, XM_047423208.1:c.1475T>C, XM_047423203.1:c.1475T>C, XM_047423184.1:c.1475T>C, XM_047423209.1:c.1475T>C, XM_047423199.1:c.1475T>C, XM_047423204.1:c.1475T>C, XM_047423206.1:c.1475T>C, NP_056450.2:p.Met492Thr, XP_005251961.1:p.Met492Thr, XP_011516802.1:p.Met492Thr, NP_001269609.1:p.Met492Thr, XP_011516801.1:p.Met492Thr, XP_011516808.1:p.Met492Thr, XP_011516809.1:p.Met492Thr, NP_001269610.1:p.Met492Thr, NP_001317707.1:p.Met492Thr, NP_001317706.1:p.Met492Thr, NP_001341228.1:p.Met492Thr, NP_001269608.1:p.Met492Thr, NP_001341225.1:p.Met492Thr, NP_001341230.1:p.Met492Thr, NP_001341226.1:p.Met492Thr, XP_016870095.1:p.Met492Thr, XP_016870098.1:p.Met492Thr, NP_001341224.1:p.Met492Thr, NP_001341227.1:p.Met492Thr, NP_001341223.1:p.Met492Thr, NP_001341229.1:p.Met492Thr, XP_047279138.1:p.Met492Thr, XP_047279136.1:p.Met492Thr, XP_047279149.1:p.Met492Thr, XP_047279145.1:p.Met492Thr, XP_047279137.1:p.Met492Thr, XP_047279156.1:p.Met492Thr, XP_047279150.1:p.Met492Thr, XP_047279133.1:p.Met492Thr, XP_047279161.1:p.Met492Thr, XP_047279135.1:p.Met492Thr, XP_047279142.1:p.Met492Thr, XP_047279134.1:p.Met492Thr, XP_047279143.1:p.Met492Thr, XP_047279141.1:p.Met492Thr, XP_047279163.1:p.Met492Thr, XP_047279148.1:p.Met492Thr, XP_047279146.1:p.Met492Thr, XP_047279144.1:p.Met492Thr, XP_047279151.1:p.Met492Thr, XP_047279147.1:p.Met492Thr, XP_047279158.1:p.Met492Thr, XP_047279154.1:p.Met492Thr, XP_047279157.1:p.Met492Thr, XP_047279152.1:p.Met492Thr, XP_047279139.1:p.Met492Thr, XP_047279153.1:p.Met492Thr, XP_047279164.1:p.Met492Thr, XP_047279159.1:p.Met492Thr, XP_047279140.1:p.Met492Thr, XP_047279165.1:p.Met492Thr, XP_047279155.1:p.Met492Thr, XP_047279160.1:p.Met492Thr, XP_047279162.1:p.Met492Thr

              7.

              rs1482869712 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:125337410 (GRCh38)
                9:128099689 (GRCh37)
                Canonical SPDI:
                NC_000009.12:125337409:G:A
                Gene:
                GAPVD1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.125337410G>A, NC_000009.11:g.128099689G>A, NM_015635.4:c.2777G>A, NM_015635.3:c.2777G>A, NM_015635.2:c.2777G>A, XM_005251904.4:c.2696G>A, XM_005251904.3:c.2696G>A, XM_005251904.2:c.2696G>A, XM_005251904.1:c.2696G>A, XM_011518500.3:c.2777G>A, XM_011518500.2:c.2777G>A, XM_011518500.1:c.2777G>A, NM_001282680.3:c.2696G>A, NM_001282680.2:c.2696G>A, NM_001282680.1:c.2696G>A, XM_011518499.3:c.2777G>A, XM_011518499.2:c.2777G>A, XM_011518499.1:c.2777G>A, XM_011518506.3:c.2714G>A, XM_011518506.2:c.2714G>A, XM_011518506.1:c.2714G>A, XM_011518507.3:c.2777G>A, XM_011518507.2:c.2777G>A, XM_011518507.1:c.2777G>A, NM_001282681.3:c.2633G>A, NM_001282681.2:c.2633G>A, NM_001282681.1:c.2633G>A, NM_001330778.3:c.2696G>A, NM_001330778.2:c.2696G>A, NM_001330778.1:c.2696G>A, NM_001330777.3:c.2633G>A, NM_001330777.2:c.2633G>A, NM_001330777.1:c.2633G>A, NM_001354299.2:c.2696G>A, NM_001354299.1:c.2696G>A, NM_001282679.2:c.2696G>A, NM_001282679.1:c.2696G>A, NM_001354296.2:c.2696G>A, NM_001354296.1:c.2696G>A, NM_001354301.2:c.2696G>A, NM_001354301.1:c.2696G>A, NM_001354297.2:c.2633G>A, NM_001354297.1:c.2633G>A, XM_017014606.2:c.2633G>A, XM_017014606.1:c.2633G>A, XM_017014609.2:c.2696G>A, XM_017014609.1:c.2696G>A, NR_148732.2:n.3018G>A, NR_148732.1:n.3050G>A, NM_001354295.2:c.2696G>A, NM_001354295.1:c.2696G>A, NR_148733.2:n.2868G>A, NR_148733.1:n.2900G>A, NM_001354298.2:c.2777G>A, NM_001354298.1:c.2777G>A, NM_001354294.2:c.2696G>A, NM_001354294.1:c.2696G>A, NM_001354300.2:c.2633G>A, NM_001354300.1:c.2633G>A, XM_047423182.1:c.2777G>A, XM_047423180.1:c.2777G>A, XM_047423193.1:c.2696G>A, XM_047423189.1:c.2696G>A, XM_047423181.1:c.2777G>A, XM_047423200.1:c.2633G>A, XM_047423194.1:c.2633G>A, XM_047423177.1:c.2777G>A, XM_047423205.1:c.2696G>A, XM_047423179.1:c.2777G>A, XM_047423186.1:c.2714G>A, XM_047423178.1:c.2777G>A, XM_047423187.1:c.2714G>A, XM_047423185.1:c.2714G>A, XM_047423207.1:c.2633G>A, XM_047423192.1:c.2777G>A, XM_047423190.1:c.2696G>A, XM_047423188.1:c.2714G>A, XM_047423195.1:c.2633G>A, XM_047423191.1:c.2696G>A, XM_047423202.1:c.2696G>A, XM_047423198.1:c.2714G>A, XM_047423201.1:c.2696G>A, XM_047423196.1:c.2633G>A, XM_047423183.1:c.2777G>A, XM_047423197.1:c.2633G>A, XM_047423208.1:c.2633G>A, XM_047423203.1:c.2696G>A, XM_047423184.1:c.2714G>A, XM_047423209.1:c.2633G>A, XM_047423199.1:c.2714G>A, XM_047423204.1:c.2696G>A, XM_047423206.1:c.2633G>A, NP_056450.2:p.Arg926Gln, XP_005251961.1:p.Arg899Gln, XP_011516802.1:p.Arg926Gln, NP_001269609.1:p.Arg899Gln, XP_011516801.1:p.Arg926Gln, XP_011516808.1:p.Arg905Gln, XP_011516809.1:p.Arg926Gln, NP_001269610.1:p.Arg878Gln, NP_001317707.1:p.Arg899Gln, NP_001317706.1:p.Arg878Gln, NP_001341228.1:p.Arg899Gln, NP_001269608.1:p.Arg899Gln, NP_001341225.1:p.Arg899Gln, NP_001341230.1:p.Arg899Gln, NP_001341226.1:p.Arg878Gln, XP_016870095.1:p.Arg878Gln, XP_016870098.1:p.Arg899Gln, NP_001341224.1:p.Arg899Gln, NP_001341227.1:p.Arg926Gln, NP_001341223.1:p.Arg899Gln, NP_001341229.1:p.Arg878Gln, XP_047279138.1:p.Arg926Gln, XP_047279136.1:p.Arg926Gln, XP_047279149.1:p.Arg899Gln, XP_047279145.1:p.Arg899Gln, XP_047279137.1:p.Arg926Gln, XP_047279156.1:p.Arg878Gln, XP_047279150.1:p.Arg878Gln, XP_047279133.1:p.Arg926Gln, XP_047279161.1:p.Arg899Gln, XP_047279135.1:p.Arg926Gln, XP_047279142.1:p.Arg905Gln, XP_047279134.1:p.Arg926Gln, XP_047279143.1:p.Arg905Gln, XP_047279141.1:p.Arg905Gln, XP_047279163.1:p.Arg878Gln, XP_047279148.1:p.Arg926Gln, XP_047279146.1:p.Arg899Gln, XP_047279144.1:p.Arg905Gln, XP_047279151.1:p.Arg878Gln, XP_047279147.1:p.Arg899Gln, XP_047279158.1:p.Arg899Gln, XP_047279154.1:p.Arg905Gln, XP_047279157.1:p.Arg899Gln, XP_047279152.1:p.Arg878Gln, XP_047279139.1:p.Arg926Gln, XP_047279153.1:p.Arg878Gln, XP_047279164.1:p.Arg878Gln, XP_047279159.1:p.Arg899Gln, XP_047279140.1:p.Arg905Gln, XP_047279165.1:p.Arg878Gln, XP_047279155.1:p.Arg905Gln, XP_047279160.1:p.Arg899Gln, XP_047279162.1:p.Arg878Gln

                8.

                rs1481903787 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:125312582 (GRCh38)
                  9:128074861 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:125312581:G:A
                  Gene:
                  GAPVD1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.125312582G>A, NC_000009.11:g.128074861G>A, NM_015635.4:c.1572G>A, NM_015635.3:c.1572G>A, NM_015635.2:c.1572G>A, XM_005251904.4:c.1572G>A, XM_005251904.3:c.1572G>A, XM_005251904.2:c.1572G>A, XM_005251904.1:c.1572G>A, XM_011518500.3:c.1572G>A, XM_011518500.2:c.1572G>A, XM_011518500.1:c.1572G>A, NM_001282680.3:c.1572G>A, NM_001282680.2:c.1572G>A, NM_001282680.1:c.1572G>A, XM_011518499.3:c.1572G>A, XM_011518499.2:c.1572G>A, XM_011518499.1:c.1572G>A, XM_011518506.3:c.1572G>A, XM_011518506.2:c.1572G>A, XM_011518506.1:c.1572G>A, XM_011518507.3:c.1572G>A, XM_011518507.2:c.1572G>A, XM_011518507.1:c.1572G>A, NM_001282681.3:c.1572G>A, NM_001282681.2:c.1572G>A, NM_001282681.1:c.1572G>A, NM_001330778.3:c.1572G>A, NM_001330778.2:c.1572G>A, NM_001330778.1:c.1572G>A, NM_001330777.3:c.1572G>A, NM_001330777.2:c.1572G>A, NM_001330777.1:c.1572G>A, NM_001354299.2:c.1572G>A, NM_001354299.1:c.1572G>A, NM_001282679.2:c.1572G>A, NM_001282679.1:c.1572G>A, NM_001354296.2:c.1572G>A, NM_001354296.1:c.1572G>A, NM_001354301.2:c.1572G>A, NM_001354301.1:c.1572G>A, NM_001354297.2:c.1572G>A, NM_001354297.1:c.1572G>A, XM_017014606.2:c.1572G>A, XM_017014606.1:c.1572G>A, XM_017014609.2:c.1572G>A, XM_017014609.1:c.1572G>A, NR_148732.2:n.1937G>A, NR_148732.1:n.1969G>A, NM_001354295.2:c.1572G>A, NM_001354295.1:c.1572G>A, NR_148733.2:n.1787G>A, NR_148733.1:n.1819G>A, NM_001354298.2:c.1572G>A, NM_001354298.1:c.1572G>A, NM_001354294.2:c.1572G>A, NM_001354294.1:c.1572G>A, NM_001354300.2:c.1572G>A, NM_001354300.1:c.1572G>A, XM_047423182.1:c.1572G>A, XM_047423180.1:c.1572G>A, XM_047423193.1:c.1572G>A, XM_047423189.1:c.1572G>A, XM_047423181.1:c.1572G>A, XM_047423200.1:c.1572G>A, XM_047423194.1:c.1572G>A, XM_047423177.1:c.1572G>A, XM_047423205.1:c.1572G>A, XM_047423179.1:c.1572G>A, XM_047423186.1:c.1572G>A, XM_047423178.1:c.1572G>A, XM_047423187.1:c.1572G>A, XM_047423185.1:c.1572G>A, XM_047423207.1:c.1572G>A, XM_047423192.1:c.1572G>A, XM_047423190.1:c.1572G>A, XM_047423188.1:c.1572G>A, XM_047423195.1:c.1572G>A, XM_047423191.1:c.1572G>A, XM_047423202.1:c.1572G>A, XM_047423198.1:c.1572G>A, XM_047423201.1:c.1572G>A, XM_047423196.1:c.1572G>A, XM_047423183.1:c.1572G>A, XM_047423197.1:c.1572G>A, XM_047423208.1:c.1572G>A, XM_047423203.1:c.1572G>A, XM_047423184.1:c.1572G>A, XM_047423209.1:c.1572G>A, XM_047423199.1:c.1572G>A, XM_047423204.1:c.1572G>A, XM_047423206.1:c.1572G>A

                  9.

                  rs1480955826 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:125321454 (GRCh38)
                    9:128083733 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:125321453:G:A
                    Gene:
                    GAPVD1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000009.12:g.125321454G>A, NC_000009.11:g.128083733G>A, NM_015635.4:c.1624G>A, NM_015635.3:c.1624G>A, NM_015635.2:c.1624G>A, XM_005251904.4:c.1624G>A, XM_005251904.3:c.1624G>A, XM_005251904.2:c.1624G>A, XM_005251904.1:c.1624G>A, XM_011518500.3:c.1624G>A, XM_011518500.2:c.1624G>A, XM_011518500.1:c.1624G>A, NM_001282680.3:c.1624G>A, NM_001282680.2:c.1624G>A, NM_001282680.1:c.1624G>A, XM_011518499.3:c.1624G>A, XM_011518499.2:c.1624G>A, XM_011518499.1:c.1624G>A, XM_011518506.3:c.1624G>A, XM_011518506.2:c.1624G>A, XM_011518506.1:c.1624G>A, XM_011518507.3:c.1624G>A, XM_011518507.2:c.1624G>A, XM_011518507.1:c.1624G>A, NM_001282681.3:c.1624G>A, NM_001282681.2:c.1624G>A, NM_001282681.1:c.1624G>A, NM_001330778.3:c.1624G>A, NM_001330778.2:c.1624G>A, NM_001330778.1:c.1624G>A, NM_001330777.3:c.1624G>A, NM_001330777.2:c.1624G>A, NM_001330777.1:c.1624G>A, NM_001354299.2:c.1624G>A, NM_001354299.1:c.1624G>A, NM_001282679.2:c.1624G>A, NM_001282679.1:c.1624G>A, NM_001354296.2:c.1624G>A, NM_001354296.1:c.1624G>A, NM_001354301.2:c.1624G>A, NM_001354301.1:c.1624G>A, NM_001354297.2:c.1624G>A, NM_001354297.1:c.1624G>A, XM_017014606.2:c.1624G>A, XM_017014606.1:c.1624G>A, XM_017014609.2:c.1624G>A, XM_017014609.1:c.1624G>A, NR_148732.2:n.1989G>A, NR_148732.1:n.2021G>A, NM_001354295.2:c.1624G>A, NM_001354295.1:c.1624G>A, NR_148733.2:n.1839G>A, NR_148733.1:n.1871G>A, NM_001354298.2:c.1624G>A, NM_001354298.1:c.1624G>A, NM_001354294.2:c.1624G>A, NM_001354294.1:c.1624G>A, NM_001354300.2:c.1624G>A, NM_001354300.1:c.1624G>A, XM_047423182.1:c.1624G>A, XM_047423180.1:c.1624G>A, XM_047423193.1:c.1624G>A, XM_047423189.1:c.1624G>A, XM_047423181.1:c.1624G>A, XM_047423200.1:c.1624G>A, XM_047423194.1:c.1624G>A, XM_047423177.1:c.1624G>A, XM_047423205.1:c.1624G>A, XM_047423179.1:c.1624G>A, XM_047423186.1:c.1624G>A, XM_047423178.1:c.1624G>A, XM_047423187.1:c.1624G>A, XM_047423185.1:c.1624G>A, XM_047423207.1:c.1624G>A, XM_047423192.1:c.1624G>A, XM_047423190.1:c.1624G>A, XM_047423188.1:c.1624G>A, XM_047423195.1:c.1624G>A, XM_047423191.1:c.1624G>A, XM_047423202.1:c.1624G>A, XM_047423198.1:c.1624G>A, XM_047423201.1:c.1624G>A, XM_047423196.1:c.1624G>A, XM_047423183.1:c.1624G>A, XM_047423197.1:c.1624G>A, XM_047423208.1:c.1624G>A, XM_047423203.1:c.1624G>A, XM_047423184.1:c.1624G>A, XM_047423209.1:c.1624G>A, XM_047423199.1:c.1624G>A, XM_047423204.1:c.1624G>A, XM_047423206.1:c.1624G>A, NP_056450.2:p.Asp542Asn, XP_005251961.1:p.Asp542Asn, XP_011516802.1:p.Asp542Asn, NP_001269609.1:p.Asp542Asn, XP_011516801.1:p.Asp542Asn, XP_011516808.1:p.Asp542Asn, XP_011516809.1:p.Asp542Asn, NP_001269610.1:p.Asp542Asn, NP_001317707.1:p.Asp542Asn, NP_001317706.1:p.Asp542Asn, NP_001341228.1:p.Asp542Asn, NP_001269608.1:p.Asp542Asn, NP_001341225.1:p.Asp542Asn, NP_001341230.1:p.Asp542Asn, NP_001341226.1:p.Asp542Asn, XP_016870095.1:p.Asp542Asn, XP_016870098.1:p.Asp542Asn, NP_001341224.1:p.Asp542Asn, NP_001341227.1:p.Asp542Asn, NP_001341223.1:p.Asp542Asn, NP_001341229.1:p.Asp542Asn, XP_047279138.1:p.Asp542Asn, XP_047279136.1:p.Asp542Asn, XP_047279149.1:p.Asp542Asn, XP_047279145.1:p.Asp542Asn, XP_047279137.1:p.Asp542Asn, XP_047279156.1:p.Asp542Asn, XP_047279150.1:p.Asp542Asn, XP_047279133.1:p.Asp542Asn, XP_047279161.1:p.Asp542Asn, XP_047279135.1:p.Asp542Asn, XP_047279142.1:p.Asp542Asn, XP_047279134.1:p.Asp542Asn, XP_047279143.1:p.Asp542Asn, XP_047279141.1:p.Asp542Asn, XP_047279163.1:p.Asp542Asn, XP_047279148.1:p.Asp542Asn, XP_047279146.1:p.Asp542Asn, XP_047279144.1:p.Asp542Asn, XP_047279151.1:p.Asp542Asn, XP_047279147.1:p.Asp542Asn, XP_047279158.1:p.Asp542Asn, XP_047279154.1:p.Asp542Asn, XP_047279157.1:p.Asp542Asn, XP_047279152.1:p.Asp542Asn, XP_047279139.1:p.Asp542Asn, XP_047279153.1:p.Asp542Asn, XP_047279164.1:p.Asp542Asn, XP_047279159.1:p.Asp542Asn, XP_047279140.1:p.Asp542Asn, XP_047279165.1:p.Asp542Asn, XP_047279155.1:p.Asp542Asn, XP_047279160.1:p.Asp542Asn, XP_047279162.1:p.Asp542Asn

                    10.

                    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

                      11.

                      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

                        12.

                        rs1476610913 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,G [Show Flanks]
                          Chromosome:
                          9:125321471 (GRCh38)
                          9:128083750 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:125321470:T:A,NC_000009.12:125321470:T:G
                          Gene:
                          GAPVD1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.125321471T>A, NC_000009.12:g.125321471T>G, NC_000009.11:g.128083750T>A, NC_000009.11:g.128083750T>G, NM_015635.4:c.1641T>A, NM_015635.4:c.1641T>G, NM_015635.3:c.1641T>A, NM_015635.3:c.1641T>G, NM_015635.2:c.1641T>A, NM_015635.2:c.1641T>G, XM_005251904.4:c.1641T>A, XM_005251904.4:c.1641T>G, XM_005251904.3:c.1641T>A, XM_005251904.3:c.1641T>G, XM_005251904.2:c.1641T>A, XM_005251904.2:c.1641T>G, XM_005251904.1:c.1641T>A, XM_005251904.1:c.1641T>G, XM_011518500.3:c.1641T>A, XM_011518500.3:c.1641T>G, XM_011518500.2:c.1641T>A, XM_011518500.2:c.1641T>G, XM_011518500.1:c.1641T>A, XM_011518500.1:c.1641T>G, NM_001282680.3:c.1641T>A, NM_001282680.3:c.1641T>G, NM_001282680.2:c.1641T>A, NM_001282680.2:c.1641T>G, NM_001282680.1:c.1641T>A, NM_001282680.1:c.1641T>G, XM_011518499.3:c.1641T>A, XM_011518499.3:c.1641T>G, XM_011518499.2:c.1641T>A, XM_011518499.2:c.1641T>G, XM_011518499.1:c.1641T>A, XM_011518499.1:c.1641T>G, XM_011518506.3:c.1641T>A, XM_011518506.3:c.1641T>G, XM_011518506.2:c.1641T>A, XM_011518506.2:c.1641T>G, XM_011518506.1:c.1641T>A, XM_011518506.1:c.1641T>G, XM_011518507.3:c.1641T>A, XM_011518507.3:c.1641T>G, XM_011518507.2:c.1641T>A, XM_011518507.2:c.1641T>G, XM_011518507.1:c.1641T>A, XM_011518507.1:c.1641T>G, NM_001282681.3:c.1641T>A, NM_001282681.3:c.1641T>G, NM_001282681.2:c.1641T>A, NM_001282681.2:c.1641T>G, NM_001282681.1:c.1641T>A, NM_001282681.1:c.1641T>G, NM_001330778.3:c.1641T>A, NM_001330778.3:c.1641T>G, NM_001330778.2:c.1641T>A, NM_001330778.2:c.1641T>G, NM_001330778.1:c.1641T>A, NM_001330778.1:c.1641T>G, NM_001330777.3:c.1641T>A, NM_001330777.3:c.1641T>G, NM_001330777.2:c.1641T>A, NM_001330777.2:c.1641T>G, NM_001330777.1:c.1641T>A, NM_001330777.1:c.1641T>G, NM_001354299.2:c.1641T>A, NM_001354299.2:c.1641T>G, NM_001354299.1:c.1641T>A, NM_001354299.1:c.1641T>G, NM_001282679.2:c.1641T>A, NM_001282679.2:c.1641T>G, NM_001282679.1:c.1641T>A, NM_001282679.1:c.1641T>G, NM_001354296.2:c.1641T>A, NM_001354296.2:c.1641T>G, NM_001354296.1:c.1641T>A, NM_001354296.1:c.1641T>G, NM_001354301.2:c.1641T>A, NM_001354301.2:c.1641T>G, NM_001354301.1:c.1641T>A, NM_001354301.1:c.1641T>G, NM_001354297.2:c.1641T>A, NM_001354297.2:c.1641T>G, NM_001354297.1:c.1641T>A, NM_001354297.1:c.1641T>G, XM_017014606.2:c.1641T>A, XM_017014606.2:c.1641T>G, XM_017014606.1:c.1641T>A, XM_017014606.1:c.1641T>G, XM_017014609.2:c.1641T>A, XM_017014609.2:c.1641T>G, XM_017014609.1:c.1641T>A, XM_017014609.1:c.1641T>G, NR_148732.2:n.2006T>A, NR_148732.2:n.2006T>G, NR_148732.1:n.2038T>A, NR_148732.1:n.2038T>G, NM_001354295.2:c.1641T>A, NM_001354295.2:c.1641T>G, NM_001354295.1:c.1641T>A, NM_001354295.1:c.1641T>G, NR_148733.2:n.1856T>A, NR_148733.2:n.1856T>G, NR_148733.1:n.1888T>A, NR_148733.1:n.1888T>G, NM_001354298.2:c.1641T>A, NM_001354298.2:c.1641T>G, NM_001354298.1:c.1641T>A, NM_001354298.1:c.1641T>G, NM_001354294.2:c.1641T>A, NM_001354294.2:c.1641T>G, NM_001354294.1:c.1641T>A, NM_001354294.1:c.1641T>G, NM_001354300.2:c.1641T>A, NM_001354300.2:c.1641T>G, NM_001354300.1:c.1641T>A, NM_001354300.1:c.1641T>G, XM_047423182.1:c.1641T>A, XM_047423182.1:c.1641T>G, XM_047423180.1:c.1641T>A, XM_047423180.1:c.1641T>G, XM_047423193.1:c.1641T>A, XM_047423193.1:c.1641T>G, XM_047423189.1:c.1641T>A, XM_047423189.1:c.1641T>G, XM_047423181.1:c.1641T>A, XM_047423181.1:c.1641T>G, XM_047423200.1:c.1641T>A, XM_047423200.1:c.1641T>G, XM_047423194.1:c.1641T>A, XM_047423194.1:c.1641T>G, XM_047423177.1:c.1641T>A, XM_047423177.1:c.1641T>G, XM_047423205.1:c.1641T>A, XM_047423205.1:c.1641T>G, XM_047423179.1:c.1641T>A, XM_047423179.1:c.1641T>G, XM_047423186.1:c.1641T>A, XM_047423186.1:c.1641T>G, XM_047423178.1:c.1641T>A, XM_047423178.1:c.1641T>G, XM_047423187.1:c.1641T>A, XM_047423187.1:c.1641T>G, XM_047423185.1:c.1641T>A, XM_047423185.1:c.1641T>G, XM_047423207.1:c.1641T>A, XM_047423207.1:c.1641T>G, XM_047423192.1:c.1641T>A, XM_047423192.1:c.1641T>G, XM_047423190.1:c.1641T>A, XM_047423190.1:c.1641T>G, XM_047423188.1:c.1641T>A, XM_047423188.1:c.1641T>G, XM_047423195.1:c.1641T>A, XM_047423195.1:c.1641T>G, XM_047423191.1:c.1641T>A, XM_047423191.1:c.1641T>G, XM_047423202.1:c.1641T>A, XM_047423202.1:c.1641T>G, XM_047423198.1:c.1641T>A, XM_047423198.1:c.1641T>G, XM_047423201.1:c.1641T>A, XM_047423201.1:c.1641T>G, XM_047423196.1:c.1641T>A, XM_047423196.1:c.1641T>G, XM_047423183.1:c.1641T>A, XM_047423183.1:c.1641T>G, XM_047423197.1:c.1641T>A, XM_047423197.1:c.1641T>G, XM_047423208.1:c.1641T>A, XM_047423208.1:c.1641T>G, XM_047423203.1:c.1641T>A, XM_047423203.1:c.1641T>G, XM_047423184.1:c.1641T>A, XM_047423184.1:c.1641T>G, XM_047423209.1:c.1641T>A, XM_047423209.1:c.1641T>G, XM_047423199.1:c.1641T>A, XM_047423199.1:c.1641T>G, XM_047423204.1:c.1641T>A, XM_047423204.1:c.1641T>G, XM_047423206.1:c.1641T>A, XM_047423206.1:c.1641T>G, NP_056450.2:p.Asp547Glu, NP_056450.2:p.Asp547Glu, XP_005251961.1:p.Asp547Glu, XP_005251961.1:p.Asp547Glu, XP_011516802.1:p.Asp547Glu, XP_011516802.1:p.Asp547Glu, NP_001269609.1:p.Asp547Glu, NP_001269609.1:p.Asp547Glu, XP_011516801.1:p.Asp547Glu, XP_011516801.1:p.Asp547Glu, XP_011516808.1:p.Asp547Glu, XP_011516808.1:p.Asp547Glu, XP_011516809.1:p.Asp547Glu, XP_011516809.1:p.Asp547Glu, NP_001269610.1:p.Asp547Glu, NP_001269610.1:p.Asp547Glu, NP_001317707.1:p.Asp547Glu, NP_001317707.1:p.Asp547Glu, NP_001317706.1:p.Asp547Glu, NP_001317706.1:p.Asp547Glu, NP_001341228.1:p.Asp547Glu, NP_001341228.1:p.Asp547Glu, NP_001269608.1:p.Asp547Glu, NP_001269608.1:p.Asp547Glu, NP_001341225.1:p.Asp547Glu, NP_001341225.1:p.Asp547Glu, NP_001341230.1:p.Asp547Glu, NP_001341230.1:p.Asp547Glu, NP_001341226.1:p.Asp547Glu, NP_001341226.1:p.Asp547Glu, XP_016870095.1:p.Asp547Glu, XP_016870095.1:p.Asp547Glu, XP_016870098.1:p.Asp547Glu, XP_016870098.1:p.Asp547Glu, NP_001341224.1:p.Asp547Glu, NP_001341224.1:p.Asp547Glu, NP_001341227.1:p.Asp547Glu, NP_001341227.1:p.Asp547Glu, NP_001341223.1:p.Asp547Glu, NP_001341223.1:p.Asp547Glu, NP_001341229.1:p.Asp547Glu, NP_001341229.1:p.Asp547Glu, XP_047279138.1:p.Asp547Glu, XP_047279138.1:p.Asp547Glu, XP_047279136.1:p.Asp547Glu, XP_047279136.1:p.Asp547Glu, XP_047279149.1:p.Asp547Glu, XP_047279149.1:p.Asp547Glu, XP_047279145.1:p.Asp547Glu, XP_047279145.1:p.Asp547Glu, XP_047279137.1:p.Asp547Glu, XP_047279137.1:p.Asp547Glu, XP_047279156.1:p.Asp547Glu, XP_047279156.1:p.Asp547Glu, XP_047279150.1:p.Asp547Glu, XP_047279150.1:p.Asp547Glu, XP_047279133.1:p.Asp547Glu, XP_047279133.1:p.Asp547Glu, XP_047279161.1:p.Asp547Glu, XP_047279161.1:p.Asp547Glu, XP_047279135.1:p.Asp547Glu, XP_047279135.1:p.Asp547Glu, XP_047279142.1:p.Asp547Glu, XP_047279142.1:p.Asp547Glu, XP_047279134.1:p.Asp547Glu, XP_047279134.1:p.Asp547Glu, XP_047279143.1:p.Asp547Glu, XP_047279143.1:p.Asp547Glu, XP_047279141.1:p.Asp547Glu, XP_047279141.1:p.Asp547Glu, XP_047279163.1:p.Asp547Glu, XP_047279163.1:p.Asp547Glu, XP_047279148.1:p.Asp547Glu, XP_047279148.1:p.Asp547Glu, XP_047279146.1:p.Asp547Glu, XP_047279146.1:p.Asp547Glu, XP_047279144.1:p.Asp547Glu, XP_047279144.1:p.Asp547Glu, XP_047279151.1:p.Asp547Glu, XP_047279151.1:p.Asp547Glu, XP_047279147.1:p.Asp547Glu, XP_047279147.1:p.Asp547Glu, XP_047279158.1:p.Asp547Glu, XP_047279158.1:p.Asp547Glu, XP_047279154.1:p.Asp547Glu, XP_047279154.1:p.Asp547Glu, XP_047279157.1:p.Asp547Glu, XP_047279157.1:p.Asp547Glu, XP_047279152.1:p.Asp547Glu, XP_047279152.1:p.Asp547Glu, XP_047279139.1:p.Asp547Glu, XP_047279139.1:p.Asp547Glu, XP_047279153.1:p.Asp547Glu, XP_047279153.1:p.Asp547Glu, XP_047279164.1:p.Asp547Glu, XP_047279164.1:p.Asp547Glu, XP_047279159.1:p.Asp547Glu, XP_047279159.1:p.Asp547Glu, XP_047279140.1:p.Asp547Glu, XP_047279140.1:p.Asp547Glu, XP_047279165.1:p.Asp547Glu, XP_047279165.1:p.Asp547Glu, XP_047279155.1:p.Asp547Glu, XP_047279155.1:p.Asp547Glu, XP_047279160.1:p.Asp547Glu, XP_047279160.1:p.Asp547Glu, XP_047279162.1:p.Asp547Glu, XP_047279162.1:p.Asp547Glu

                          13.

                          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

                            14.

                            rs1475423753 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:125321438 (GRCh38)
                              9:128083717 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:125321437:A:G
                              Gene:
                              GAPVD1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.125321438A>G, NC_000009.11:g.128083717A>G, NM_015635.4:c.1608A>G, NM_015635.3:c.1608A>G, NM_015635.2:c.1608A>G, XM_005251904.4:c.1608A>G, XM_005251904.3:c.1608A>G, XM_005251904.2:c.1608A>G, XM_005251904.1:c.1608A>G, XM_011518500.3:c.1608A>G, XM_011518500.2:c.1608A>G, XM_011518500.1:c.1608A>G, NM_001282680.3:c.1608A>G, NM_001282680.2:c.1608A>G, NM_001282680.1:c.1608A>G, XM_011518499.3:c.1608A>G, XM_011518499.2:c.1608A>G, XM_011518499.1:c.1608A>G, XM_011518506.3:c.1608A>G, XM_011518506.2:c.1608A>G, XM_011518506.1:c.1608A>G, XM_011518507.3:c.1608A>G, XM_011518507.2:c.1608A>G, XM_011518507.1:c.1608A>G, NM_001282681.3:c.1608A>G, NM_001282681.2:c.1608A>G, NM_001282681.1:c.1608A>G, NM_001330778.3:c.1608A>G, NM_001330778.2:c.1608A>G, NM_001330778.1:c.1608A>G, NM_001330777.3:c.1608A>G, NM_001330777.2:c.1608A>G, NM_001330777.1:c.1608A>G, NM_001354299.2:c.1608A>G, NM_001354299.1:c.1608A>G, NM_001282679.2:c.1608A>G, NM_001282679.1:c.1608A>G, NM_001354296.2:c.1608A>G, NM_001354296.1:c.1608A>G, NM_001354301.2:c.1608A>G, NM_001354301.1:c.1608A>G, NM_001354297.2:c.1608A>G, NM_001354297.1:c.1608A>G, XM_017014606.2:c.1608A>G, XM_017014606.1:c.1608A>G, XM_017014609.2:c.1608A>G, XM_017014609.1:c.1608A>G, NR_148732.2:n.1973A>G, NR_148732.1:n.2005A>G, NM_001354295.2:c.1608A>G, NM_001354295.1:c.1608A>G, NR_148733.2:n.1823A>G, NR_148733.1:n.1855A>G, NM_001354298.2:c.1608A>G, NM_001354298.1:c.1608A>G, NM_001354294.2:c.1608A>G, NM_001354294.1:c.1608A>G, NM_001354300.2:c.1608A>G, NM_001354300.1:c.1608A>G, XM_047423182.1:c.1608A>G, XM_047423180.1:c.1608A>G, XM_047423193.1:c.1608A>G, XM_047423189.1:c.1608A>G, XM_047423181.1:c.1608A>G, XM_047423200.1:c.1608A>G, XM_047423194.1:c.1608A>G, XM_047423177.1:c.1608A>G, XM_047423205.1:c.1608A>G, XM_047423179.1:c.1608A>G, XM_047423186.1:c.1608A>G, XM_047423178.1:c.1608A>G, XM_047423187.1:c.1608A>G, XM_047423185.1:c.1608A>G, XM_047423207.1:c.1608A>G, XM_047423192.1:c.1608A>G, XM_047423190.1:c.1608A>G, XM_047423188.1:c.1608A>G, XM_047423195.1:c.1608A>G, XM_047423191.1:c.1608A>G, XM_047423202.1:c.1608A>G, XM_047423198.1:c.1608A>G, XM_047423201.1:c.1608A>G, XM_047423196.1:c.1608A>G, XM_047423183.1:c.1608A>G, XM_047423197.1:c.1608A>G, XM_047423208.1:c.1608A>G, XM_047423203.1:c.1608A>G, XM_047423184.1:c.1608A>G, XM_047423209.1:c.1608A>G, XM_047423199.1:c.1608A>G, XM_047423204.1:c.1608A>G, XM_047423206.1:c.1608A>G

                              15.

                              rs1475102621 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:125360594 (GRCh38)
                                9:128122873 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:125360593:A:C
                                Gene:
                                GAPVD1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000009.12:g.125360594A>C, NC_000009.11:g.128122873A>C, NM_015635.4:c.4192A>C, NM_015635.3:c.4192A>C, NM_015635.2:c.4192A>C, XM_005251904.4:c.4030A>C, XM_005251904.3:c.4030A>C, XM_005251904.2:c.4030A>C, XM_005251904.1:c.4030A>C, XM_011518500.3:c.4192A>C, XM_011518500.2:c.4192A>C, XM_011518500.1:c.4192A>C, NM_001282680.3:c.4111A>C, NM_001282680.2:c.4111A>C, NM_001282680.1:c.4111A>C, XM_011518499.3:c.4192A>C, XM_011518499.2:c.4192A>C, XM_011518499.1:c.4192A>C, XM_011518506.3:c.4129A>C, XM_011518506.2:c.4129A>C, XM_011518506.1:c.4129A>C, XM_011518507.3:c.4111A>C, XM_011518507.2:c.4111A>C, XM_011518507.1:c.4111A>C, NM_001282681.3:c.4048A>C, NM_001282681.2:c.4048A>C, NM_001282681.1:c.4048A>C, NM_001330778.3:c.4030A>C, NM_001330778.2:c.4030A>C, NM_001330778.1:c.4030A>C, NM_001330777.3:c.3967A>C, NM_001330777.2:c.3967A>C, NM_001330777.1:c.3967A>C, NM_001354299.2:c.4111A>C, NM_001354299.1:c.4111A>C, NM_001282679.2:c.4165A>C, NM_001282679.1:c.4165A>C, NM_001354296.2:c.4111A>C, NM_001354296.1:c.4111A>C, NM_001354301.2:c.4111A>C, NM_001354301.1:c.4111A>C, NM_001354297.2:c.4048A>C, NM_001354297.1:c.4048A>C, XM_017014606.2:c.4048A>C, XM_017014606.1:c.4048A>C, XM_017014609.2:c.4030A>C, XM_017014609.1:c.4030A>C, NR_148732.2:n.4352A>C, NR_148732.1:n.4384A>C, NM_001354295.2:c.4111A>C, NM_001354295.1:c.4111A>C, NR_148733.2:n.4283A>C, NR_148733.1:n.4315A>C, NM_001354298.2:c.4111A>C, NM_001354298.1:c.4111A>C, NM_001354294.2:c.4111A>C, NM_001354294.1:c.4111A>C, NM_001354300.2:c.4048A>C, NM_001354300.1:c.4048A>C, XM_047423182.1:c.4192A>C, XM_047423180.1:c.4192A>C, XM_047423193.1:c.4111A>C, XM_047423189.1:c.4111A>C, XM_047423181.1:c.4192A>C, XM_047423200.1:c.4048A>C, XM_047423194.1:c.4048A>C, XM_047423177.1:c.4192A>C, XM_047423205.1:c.4030A>C, XM_047423179.1:c.4192A>C, XM_047423186.1:c.4129A>C, XM_047423178.1:c.4192A>C, XM_047423187.1:c.4129A>C, XM_047423185.1:c.4129A>C, XM_047423207.1:c.3967A>C, XM_047423192.1:c.4111A>C, XM_047423190.1:c.4111A>C, XM_047423188.1:c.4129A>C, XM_047423195.1:c.4048A>C, XM_047423191.1:c.4111A>C, XM_047423202.1:c.4030A>C, XM_047423198.1:c.4048A>C, XM_047423201.1:c.4030A>C, XM_047423196.1:c.4048A>C, XM_047423183.1:c.4192A>C, XM_047423197.1:c.4048A>C, XM_047423208.1:c.3967A>C, XM_047423203.1:c.4030A>C, XM_047423184.1:c.4129A>C, XM_047423209.1:c.3967A>C, XM_047423199.1:c.4048A>C, XM_047423204.1:c.4030A>C, XM_047423206.1:c.3967A>C, NP_056450.2:p.Thr1398Pro, XP_005251961.1:p.Thr1344Pro, XP_011516802.1:p.Thr1398Pro, NP_001269609.1:p.Thr1371Pro, XP_011516801.1:p.Thr1398Pro, XP_011516808.1:p.Thr1377Pro, XP_011516809.1:p.Thr1371Pro, NP_001269610.1:p.Thr1350Pro, NP_001317707.1:p.Thr1344Pro, NP_001317706.1:p.Thr1323Pro, NP_001341228.1:p.Thr1371Pro, NP_001269608.1:p.Thr1389Pro, NP_001341225.1:p.Thr1371Pro, NP_001341230.1:p.Thr1371Pro, NP_001341226.1:p.Thr1350Pro, XP_016870095.1:p.Thr1350Pro, XP_016870098.1:p.Thr1344Pro, NP_001341224.1:p.Thr1371Pro, NP_001341227.1:p.Thr1371Pro, NP_001341223.1:p.Thr1371Pro, NP_001341229.1:p.Thr1350Pro, XP_047279138.1:p.Thr1398Pro, XP_047279136.1:p.Thr1398Pro, XP_047279149.1:p.Thr1371Pro, XP_047279145.1:p.Thr1371Pro, XP_047279137.1:p.Thr1398Pro, XP_047279156.1:p.Thr1350Pro, XP_047279150.1:p.Thr1350Pro, XP_047279133.1:p.Thr1398Pro, XP_047279161.1:p.Thr1344Pro, XP_047279135.1:p.Thr1398Pro, XP_047279142.1:p.Thr1377Pro, XP_047279134.1:p.Thr1398Pro, XP_047279143.1:p.Thr1377Pro, XP_047279141.1:p.Thr1377Pro, XP_047279163.1:p.Thr1323Pro, XP_047279148.1:p.Thr1371Pro, XP_047279146.1:p.Thr1371Pro, XP_047279144.1:p.Thr1377Pro, XP_047279151.1:p.Thr1350Pro, XP_047279147.1:p.Thr1371Pro, XP_047279158.1:p.Thr1344Pro, XP_047279154.1:p.Thr1350Pro, XP_047279157.1:p.Thr1344Pro, XP_047279152.1:p.Thr1350Pro, XP_047279139.1:p.Thr1398Pro, XP_047279153.1:p.Thr1350Pro, XP_047279164.1:p.Thr1323Pro, XP_047279159.1:p.Thr1344Pro, XP_047279140.1:p.Thr1377Pro, XP_047279165.1:p.Thr1323Pro, XP_047279155.1:p.Thr1350Pro, XP_047279160.1:p.Thr1344Pro, XP_047279162.1:p.Thr1323Pro

                                16.

                                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

                                  17.

                                  rs1473180309 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:125349404 (GRCh38)
                                    9:128111683 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:125349403:G:A
                                    Gene:
                                    GAPVD1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.125349404G>A, NC_000009.11:g.128111683G>A, NM_015635.4:c.3265G>A, NM_015635.3:c.3265G>A, NM_015635.2:c.3265G>A, XM_005251904.4:c.3103G>A, XM_005251904.3:c.3103G>A, XM_005251904.2:c.3103G>A, XM_005251904.1:c.3103G>A, XM_011518500.3:c.3265G>A, XM_011518500.2:c.3265G>A, XM_011518500.1:c.3265G>A, NM_001282680.3:c.3184G>A, NM_001282680.2:c.3184G>A, NM_001282680.1:c.3184G>A, XM_011518499.3:c.3265G>A, XM_011518499.2:c.3265G>A, XM_011518499.1:c.3265G>A, XM_011518506.3:c.3202G>A, XM_011518506.2:c.3202G>A, XM_011518506.1:c.3202G>A, XM_011518507.3:c.3184G>A, XM_011518507.2:c.3184G>A, XM_011518507.1:c.3184G>A, NM_001282681.3:c.3121G>A, NM_001282681.2:c.3121G>A, NM_001282681.1:c.3121G>A, NM_001330778.3:c.3103G>A, NM_001330778.2:c.3103G>A, NM_001330778.1:c.3103G>A, NM_001330777.3:c.3040G>A, NM_001330777.2:c.3040G>A, NM_001330777.1:c.3040G>A, NM_001354299.2:c.3184G>A, NM_001354299.1:c.3184G>A, NM_001282679.2:c.3238G>A, NM_001282679.1:c.3238G>A, NM_001354296.2:c.3184G>A, NM_001354296.1:c.3184G>A, NM_001354301.2:c.3184G>A, NM_001354301.1:c.3184G>A, NM_001354297.2:c.3121G>A, NM_001354297.1:c.3121G>A, XM_017014606.2:c.3121G>A, XM_017014606.1:c.3121G>A, XM_017014609.2:c.3103G>A, XM_017014609.1:c.3103G>A, NR_148732.2:n.3425G>A, NR_148732.1:n.3457G>A, NM_001354295.2:c.3184G>A, NM_001354295.1:c.3184G>A, NR_148733.2:n.3356G>A, NR_148733.1:n.3388G>A, NM_001354298.2:c.3184G>A, NM_001354298.1:c.3184G>A, NM_001354294.2:c.3184G>A, NM_001354294.1:c.3184G>A, NM_001354300.2:c.3121G>A, NM_001354300.1:c.3121G>A, XM_047423182.1:c.3265G>A, XM_047423180.1:c.3265G>A, XM_047423193.1:c.3184G>A, XM_047423189.1:c.3184G>A, XM_047423181.1:c.3265G>A, XM_047423200.1:c.3121G>A, XM_047423194.1:c.3121G>A, XM_047423177.1:c.3265G>A, XM_047423205.1:c.3103G>A, XM_047423179.1:c.3265G>A, XM_047423186.1:c.3202G>A, XM_047423178.1:c.3265G>A, XM_047423187.1:c.3202G>A, XM_047423185.1:c.3202G>A, XM_047423207.1:c.3040G>A, XM_047423192.1:c.3184G>A, XM_047423190.1:c.3184G>A, XM_047423188.1:c.3202G>A, XM_047423195.1:c.3121G>A, XM_047423191.1:c.3184G>A, XM_047423202.1:c.3103G>A, XM_047423198.1:c.3121G>A, XM_047423201.1:c.3103G>A, XM_047423196.1:c.3121G>A, XM_047423183.1:c.3265G>A, XM_047423197.1:c.3121G>A, XM_047423208.1:c.3040G>A, XM_047423203.1:c.3103G>A, XM_047423184.1:c.3202G>A, XM_047423209.1:c.3040G>A, XM_047423199.1:c.3121G>A, XM_047423204.1:c.3103G>A, XM_047423206.1:c.3040G>A, NP_056450.2:p.Gly1089Ser, XP_005251961.1:p.Gly1035Ser, XP_011516802.1:p.Gly1089Ser, NP_001269609.1:p.Gly1062Ser, XP_011516801.1:p.Gly1089Ser, XP_011516808.1:p.Gly1068Ser, XP_011516809.1:p.Gly1062Ser, NP_001269610.1:p.Gly1041Ser, NP_001317707.1:p.Gly1035Ser, NP_001317706.1:p.Gly1014Ser, NP_001341228.1:p.Gly1062Ser, NP_001269608.1:p.Gly1080Ser, NP_001341225.1:p.Gly1062Ser, NP_001341230.1:p.Gly1062Ser, NP_001341226.1:p.Gly1041Ser, XP_016870095.1:p.Gly1041Ser, XP_016870098.1:p.Gly1035Ser, NP_001341224.1:p.Gly1062Ser, NP_001341227.1:p.Gly1062Ser, NP_001341223.1:p.Gly1062Ser, NP_001341229.1:p.Gly1041Ser, XP_047279138.1:p.Gly1089Ser, XP_047279136.1:p.Gly1089Ser, XP_047279149.1:p.Gly1062Ser, XP_047279145.1:p.Gly1062Ser, XP_047279137.1:p.Gly1089Ser, XP_047279156.1:p.Gly1041Ser, XP_047279150.1:p.Gly1041Ser, XP_047279133.1:p.Gly1089Ser, XP_047279161.1:p.Gly1035Ser, XP_047279135.1:p.Gly1089Ser, XP_047279142.1:p.Gly1068Ser, XP_047279134.1:p.Gly1089Ser, XP_047279143.1:p.Gly1068Ser, XP_047279141.1:p.Gly1068Ser, XP_047279163.1:p.Gly1014Ser, XP_047279148.1:p.Gly1062Ser, XP_047279146.1:p.Gly1062Ser, XP_047279144.1:p.Gly1068Ser, XP_047279151.1:p.Gly1041Ser, XP_047279147.1:p.Gly1062Ser, XP_047279158.1:p.Gly1035Ser, XP_047279154.1:p.Gly1041Ser, XP_047279157.1:p.Gly1035Ser, XP_047279152.1:p.Gly1041Ser, XP_047279139.1:p.Gly1089Ser, XP_047279153.1:p.Gly1041Ser, XP_047279164.1:p.Gly1014Ser, XP_047279159.1:p.Gly1035Ser, XP_047279140.1:p.Gly1068Ser, XP_047279165.1:p.Gly1014Ser, XP_047279155.1:p.Gly1041Ser, XP_047279160.1:p.Gly1035Ser, XP_047279162.1:p.Gly1014Ser

                                    18.

                                    rs1473074976 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:125350803 (GRCh38)
                                      9:128113082 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:125350802:T:C
                                      Gene:
                                      GAPVD1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_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.125350803T>C, NC_000009.11:g.128113082T>C, NM_015635.4:c.3581T>C, NM_015635.3:c.3581T>C, NM_015635.2:c.3581T>C, XM_005251904.4:c.3419T>C, XM_005251904.3:c.3419T>C, XM_005251904.2:c.3419T>C, XM_005251904.1:c.3419T>C, XM_011518500.3:c.3581T>C, XM_011518500.2:c.3581T>C, XM_011518500.1:c.3581T>C, NM_001282680.3:c.3500T>C, NM_001282680.2:c.3500T>C, NM_001282680.1:c.3500T>C, XM_011518499.3:c.3581T>C, XM_011518499.2:c.3581T>C, XM_011518499.1:c.3581T>C, XM_011518506.3:c.3518T>C, XM_011518506.2:c.3518T>C, XM_011518506.1:c.3518T>C, XM_011518507.3:c.3500T>C, XM_011518507.2:c.3500T>C, XM_011518507.1:c.3500T>C, NM_001282681.3:c.3437T>C, NM_001282681.2:c.3437T>C, NM_001282681.1:c.3437T>C, NM_001330778.3:c.3419T>C, NM_001330778.2:c.3419T>C, NM_001330778.1:c.3419T>C, NM_001330777.3:c.3356T>C, NM_001330777.2:c.3356T>C, NM_001330777.1:c.3356T>C, NM_001354299.2:c.3500T>C, NM_001354299.1:c.3500T>C, NM_001282679.2:c.3554T>C, NM_001282679.1:c.3554T>C, NM_001354296.2:c.3500T>C, NM_001354296.1:c.3500T>C, NM_001354301.2:c.3500T>C, NM_001354301.1:c.3500T>C, NM_001354297.2:c.3437T>C, NM_001354297.1:c.3437T>C, XM_017014606.2:c.3437T>C, XM_017014606.1:c.3437T>C, XM_017014609.2:c.3419T>C, XM_017014609.1:c.3419T>C, NR_148732.2:n.3741T>C, NR_148732.1:n.3773T>C, NM_001354295.2:c.3500T>C, NM_001354295.1:c.3500T>C, NR_148733.2:n.3672T>C, NR_148733.1:n.3704T>C, NM_001354298.2:c.3500T>C, NM_001354298.1:c.3500T>C, NM_001354294.2:c.3500T>C, NM_001354294.1:c.3500T>C, NM_001354300.2:c.3437T>C, NM_001354300.1:c.3437T>C, XM_047423182.1:c.3581T>C, XM_047423180.1:c.3581T>C, XM_047423193.1:c.3500T>C, XM_047423189.1:c.3500T>C, XM_047423181.1:c.3581T>C, XM_047423200.1:c.3437T>C, XM_047423194.1:c.3437T>C, XM_047423177.1:c.3581T>C, XM_047423205.1:c.3419T>C, XM_047423179.1:c.3581T>C, XM_047423186.1:c.3518T>C, XM_047423178.1:c.3581T>C, XM_047423187.1:c.3518T>C, XM_047423185.1:c.3518T>C, XM_047423207.1:c.3356T>C, XM_047423192.1:c.3500T>C, XM_047423190.1:c.3500T>C, XM_047423188.1:c.3518T>C, XM_047423195.1:c.3437T>C, XM_047423191.1:c.3500T>C, XM_047423202.1:c.3419T>C, XM_047423198.1:c.3437T>C, XM_047423201.1:c.3419T>C, XM_047423196.1:c.3437T>C, XM_047423183.1:c.3581T>C, XM_047423197.1:c.3437T>C, XM_047423208.1:c.3356T>C, XM_047423203.1:c.3419T>C, XM_047423184.1:c.3518T>C, XM_047423209.1:c.3356T>C, XM_047423199.1:c.3437T>C, XM_047423204.1:c.3419T>C, XM_047423206.1:c.3356T>C, NP_056450.2:p.Met1194Thr, XP_005251961.1:p.Met1140Thr, XP_011516802.1:p.Met1194Thr, NP_001269609.1:p.Met1167Thr, XP_011516801.1:p.Met1194Thr, XP_011516808.1:p.Met1173Thr, XP_011516809.1:p.Met1167Thr, NP_001269610.1:p.Met1146Thr, NP_001317707.1:p.Met1140Thr, NP_001317706.1:p.Met1119Thr, NP_001341228.1:p.Met1167Thr, NP_001269608.1:p.Met1185Thr, NP_001341225.1:p.Met1167Thr, NP_001341230.1:p.Met1167Thr, NP_001341226.1:p.Met1146Thr, XP_016870095.1:p.Met1146Thr, XP_016870098.1:p.Met1140Thr, NP_001341224.1:p.Met1167Thr, NP_001341227.1:p.Met1167Thr, NP_001341223.1:p.Met1167Thr, NP_001341229.1:p.Met1146Thr, XP_047279138.1:p.Met1194Thr, XP_047279136.1:p.Met1194Thr, XP_047279149.1:p.Met1167Thr, XP_047279145.1:p.Met1167Thr, XP_047279137.1:p.Met1194Thr, XP_047279156.1:p.Met1146Thr, XP_047279150.1:p.Met1146Thr, XP_047279133.1:p.Met1194Thr, XP_047279161.1:p.Met1140Thr, XP_047279135.1:p.Met1194Thr, XP_047279142.1:p.Met1173Thr, XP_047279134.1:p.Met1194Thr, XP_047279143.1:p.Met1173Thr, XP_047279141.1:p.Met1173Thr, XP_047279163.1:p.Met1119Thr, XP_047279148.1:p.Met1167Thr, XP_047279146.1:p.Met1167Thr, XP_047279144.1:p.Met1173Thr, XP_047279151.1:p.Met1146Thr, XP_047279147.1:p.Met1167Thr, XP_047279158.1:p.Met1140Thr, XP_047279154.1:p.Met1146Thr, XP_047279157.1:p.Met1140Thr, XP_047279152.1:p.Met1146Thr, XP_047279139.1:p.Met1194Thr, XP_047279153.1:p.Met1146Thr, XP_047279164.1:p.Met1119Thr, XP_047279159.1:p.Met1140Thr, XP_047279140.1:p.Met1173Thr, XP_047279165.1:p.Met1119Thr, XP_047279155.1:p.Met1146Thr, XP_047279160.1:p.Met1140Thr, XP_047279162.1:p.Met1119Thr

                                      19.

                                      rs1471947888 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:125337239 (GRCh38)
                                        9:128099518 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:125337238:G:A
                                        Gene:
                                        GAPVD1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.125337239G>A, NC_000009.11:g.128099518G>A, NM_015635.4:c.2606G>A, NM_015635.3:c.2606G>A, NM_015635.2:c.2606G>A, XM_005251904.4:c.2525G>A, XM_005251904.3:c.2525G>A, XM_005251904.2:c.2525G>A, XM_005251904.1:c.2525G>A, XM_011518500.3:c.2606G>A, XM_011518500.2:c.2606G>A, XM_011518500.1:c.2606G>A, NM_001282680.3:c.2525G>A, NM_001282680.2:c.2525G>A, NM_001282680.1:c.2525G>A, XM_011518499.3:c.2606G>A, XM_011518499.2:c.2606G>A, XM_011518499.1:c.2606G>A, XM_011518506.3:c.2543G>A, XM_011518506.2:c.2543G>A, XM_011518506.1:c.2543G>A, XM_011518507.3:c.2606G>A, XM_011518507.2:c.2606G>A, XM_011518507.1:c.2606G>A, NM_001282681.3:c.2462G>A, NM_001282681.2:c.2462G>A, NM_001282681.1:c.2462G>A, NM_001330778.3:c.2525G>A, NM_001330778.2:c.2525G>A, NM_001330778.1:c.2525G>A, NM_001330777.3:c.2462G>A, NM_001330777.2:c.2462G>A, NM_001330777.1:c.2462G>A, NM_001354299.2:c.2525G>A, NM_001354299.1:c.2525G>A, NM_001282679.2:c.2525G>A, NM_001282679.1:c.2525G>A, NM_001354296.2:c.2525G>A, NM_001354296.1:c.2525G>A, NM_001354301.2:c.2525G>A, NM_001354301.1:c.2525G>A, NM_001354297.2:c.2462G>A, NM_001354297.1:c.2462G>A, XM_017014606.2:c.2462G>A, XM_017014606.1:c.2462G>A, XM_017014609.2:c.2525G>A, XM_017014609.1:c.2525G>A, NR_148732.2:n.2847G>A, NR_148732.1:n.2879G>A, NM_001354295.2:c.2525G>A, NM_001354295.1:c.2525G>A, NR_148733.2:n.2697G>A, NR_148733.1:n.2729G>A, NM_001354298.2:c.2606G>A, NM_001354298.1:c.2606G>A, NM_001354294.2:c.2525G>A, NM_001354294.1:c.2525G>A, NM_001354300.2:c.2462G>A, NM_001354300.1:c.2462G>A, XM_047423182.1:c.2606G>A, XM_047423180.1:c.2606G>A, XM_047423193.1:c.2525G>A, XM_047423189.1:c.2525G>A, XM_047423181.1:c.2606G>A, XM_047423200.1:c.2462G>A, XM_047423194.1:c.2462G>A, XM_047423177.1:c.2606G>A, XM_047423205.1:c.2525G>A, XM_047423179.1:c.2606G>A, XM_047423186.1:c.2543G>A, XM_047423178.1:c.2606G>A, XM_047423187.1:c.2543G>A, XM_047423185.1:c.2543G>A, XM_047423207.1:c.2462G>A, XM_047423192.1:c.2606G>A, XM_047423190.1:c.2525G>A, XM_047423188.1:c.2543G>A, XM_047423195.1:c.2462G>A, XM_047423191.1:c.2525G>A, XM_047423202.1:c.2525G>A, XM_047423198.1:c.2543G>A, XM_047423201.1:c.2525G>A, XM_047423196.1:c.2462G>A, XM_047423183.1:c.2606G>A, XM_047423197.1:c.2462G>A, XM_047423208.1:c.2462G>A, XM_047423203.1:c.2525G>A, XM_047423184.1:c.2543G>A, XM_047423209.1:c.2462G>A, XM_047423199.1:c.2543G>A, XM_047423204.1:c.2525G>A, XM_047423206.1:c.2462G>A, NP_056450.2:p.Arg869Lys, XP_005251961.1:p.Arg842Lys, XP_011516802.1:p.Arg869Lys, NP_001269609.1:p.Arg842Lys, XP_011516801.1:p.Arg869Lys, XP_011516808.1:p.Arg848Lys, XP_011516809.1:p.Arg869Lys, NP_001269610.1:p.Arg821Lys, NP_001317707.1:p.Arg842Lys, NP_001317706.1:p.Arg821Lys, NP_001341228.1:p.Arg842Lys, NP_001269608.1:p.Arg842Lys, NP_001341225.1:p.Arg842Lys, NP_001341230.1:p.Arg842Lys, NP_001341226.1:p.Arg821Lys, XP_016870095.1:p.Arg821Lys, XP_016870098.1:p.Arg842Lys, NP_001341224.1:p.Arg842Lys, NP_001341227.1:p.Arg869Lys, NP_001341223.1:p.Arg842Lys, NP_001341229.1:p.Arg821Lys, XP_047279138.1:p.Arg869Lys, XP_047279136.1:p.Arg869Lys, XP_047279149.1:p.Arg842Lys, XP_047279145.1:p.Arg842Lys, XP_047279137.1:p.Arg869Lys, XP_047279156.1:p.Arg821Lys, XP_047279150.1:p.Arg821Lys, XP_047279133.1:p.Arg869Lys, XP_047279161.1:p.Arg842Lys, XP_047279135.1:p.Arg869Lys, XP_047279142.1:p.Arg848Lys, XP_047279134.1:p.Arg869Lys, XP_047279143.1:p.Arg848Lys, XP_047279141.1:p.Arg848Lys, XP_047279163.1:p.Arg821Lys, XP_047279148.1:p.Arg869Lys, XP_047279146.1:p.Arg842Lys, XP_047279144.1:p.Arg848Lys, XP_047279151.1:p.Arg821Lys, XP_047279147.1:p.Arg842Lys, XP_047279158.1:p.Arg842Lys, XP_047279154.1:p.Arg848Lys, XP_047279157.1:p.Arg842Lys, XP_047279152.1:p.Arg821Lys, XP_047279139.1:p.Arg869Lys, XP_047279153.1:p.Arg821Lys, XP_047279164.1:p.Arg821Lys, XP_047279159.1:p.Arg842Lys, XP_047279140.1:p.Arg848Lys, XP_047279165.1:p.Arg821Lys, XP_047279155.1:p.Arg848Lys, XP_047279160.1:p.Arg842Lys, XP_047279162.1:p.Arg821Lys

                                        20.

                                        rs1470959380 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          9:125323846 (GRCh38)
                                          9:128086125 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:125323845:A:C
                                          Gene:
                                          GAPVD1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.125323846A>C, NC_000009.11:g.128086125A>C, NM_015635.4:c.1781A>C, NM_015635.3:c.1781A>C, NM_015635.2:c.1781A>C, XM_005251904.4:c.1781A>C, XM_005251904.3:c.1781A>C, XM_005251904.2:c.1781A>C, XM_005251904.1:c.1781A>C, XM_011518500.3:c.1781A>C, XM_011518500.2:c.1781A>C, XM_011518500.1:c.1781A>C, NM_001282680.3:c.1781A>C, NM_001282680.2:c.1781A>C, NM_001282680.1:c.1781A>C, XM_011518499.3:c.1781A>C, XM_011518499.2:c.1781A>C, XM_011518499.1:c.1781A>C, XM_011518506.3:c.1718A>C, XM_011518506.2:c.1718A>C, XM_011518506.1:c.1718A>C, XM_011518507.3:c.1781A>C, XM_011518507.2:c.1781A>C, XM_011518507.1:c.1781A>C, NM_001282681.3:c.1718A>C, NM_001282681.2:c.1718A>C, NM_001282681.1:c.1718A>C, NM_001330778.3:c.1781A>C, NM_001330778.2:c.1781A>C, NM_001330778.1:c.1781A>C, NM_001330777.3:c.1718A>C, NM_001330777.2:c.1718A>C, NM_001330777.1:c.1718A>C, NM_001354299.2:c.1781A>C, NM_001354299.1:c.1781A>C, NM_001282679.2:c.1781A>C, NM_001282679.1:c.1781A>C, NM_001354296.2:c.1781A>C, NM_001354296.1:c.1781A>C, NM_001354301.2:c.1781A>C, NM_001354301.1:c.1781A>C, NM_001354297.2:c.1718A>C, NM_001354297.1:c.1718A>C, XM_017014606.2:c.1718A>C, XM_017014606.1:c.1718A>C, XM_017014609.2:c.1781A>C, XM_017014609.1:c.1781A>C, NR_148732.2:n.2146A>C, NR_148732.1:n.2178A>C, NM_001354295.2:c.1781A>C, NM_001354295.1:c.1781A>C, NR_148733.2:n.1996A>C, NR_148733.1:n.2028A>C, NM_001354298.2:c.1781A>C, NM_001354298.1:c.1781A>C, NM_001354294.2:c.1781A>C, NM_001354294.1:c.1781A>C, NM_001354300.2:c.1718A>C, NM_001354300.1:c.1718A>C, XM_047423182.1:c.1781A>C, XM_047423180.1:c.1781A>C, XM_047423193.1:c.1781A>C, XM_047423189.1:c.1781A>C, XM_047423181.1:c.1781A>C, XM_047423200.1:c.1718A>C, XM_047423194.1:c.1718A>C, XM_047423177.1:c.1781A>C, XM_047423205.1:c.1781A>C, XM_047423179.1:c.1781A>C, XM_047423186.1:c.1718A>C, XM_047423178.1:c.1781A>C, XM_047423187.1:c.1718A>C, XM_047423185.1:c.1718A>C, XM_047423207.1:c.1718A>C, XM_047423192.1:c.1781A>C, XM_047423190.1:c.1781A>C, XM_047423188.1:c.1718A>C, XM_047423195.1:c.1718A>C, XM_047423191.1:c.1781A>C, XM_047423202.1:c.1781A>C, XM_047423198.1:c.1718A>C, XM_047423201.1:c.1781A>C, XM_047423196.1:c.1718A>C, XM_047423183.1:c.1781A>C, XM_047423197.1:c.1718A>C, XM_047423208.1:c.1718A>C, XM_047423203.1:c.1781A>C, XM_047423184.1:c.1718A>C, XM_047423209.1:c.1718A>C, XM_047423199.1:c.1718A>C, XM_047423204.1:c.1781A>C, XM_047423206.1:c.1718A>C, NP_056450.2:p.Glu594Ala, XP_005251961.1:p.Glu594Ala, XP_011516802.1:p.Glu594Ala, NP_001269609.1:p.Glu594Ala, XP_011516801.1:p.Glu594Ala, XP_011516808.1:p.Glu573Ala, XP_011516809.1:p.Glu594Ala, NP_001269610.1:p.Glu573Ala, NP_001317707.1:p.Glu594Ala, NP_001317706.1:p.Glu573Ala, NP_001341228.1:p.Glu594Ala, NP_001269608.1:p.Glu594Ala, NP_001341225.1:p.Glu594Ala, NP_001341230.1:p.Glu594Ala, NP_001341226.1:p.Glu573Ala, XP_016870095.1:p.Glu573Ala, XP_016870098.1:p.Glu594Ala, NP_001341224.1:p.Glu594Ala, NP_001341227.1:p.Glu594Ala, NP_001341223.1:p.Glu594Ala, NP_001341229.1:p.Glu573Ala, XP_047279138.1:p.Glu594Ala, XP_047279136.1:p.Glu594Ala, XP_047279149.1:p.Glu594Ala, XP_047279145.1:p.Glu594Ala, XP_047279137.1:p.Glu594Ala, XP_047279156.1:p.Glu573Ala, XP_047279150.1:p.Glu573Ala, XP_047279133.1:p.Glu594Ala, XP_047279161.1:p.Glu594Ala, XP_047279135.1:p.Glu594Ala, XP_047279142.1:p.Glu573Ala, XP_047279134.1:p.Glu594Ala, XP_047279143.1:p.Glu573Ala, XP_047279141.1:p.Glu573Ala, XP_047279163.1:p.Glu573Ala, XP_047279148.1:p.Glu594Ala, XP_047279146.1:p.Glu594Ala, XP_047279144.1:p.Glu573Ala, XP_047279151.1:p.Glu573Ala, XP_047279147.1:p.Glu594Ala, XP_047279158.1:p.Glu594Ala, XP_047279154.1:p.Glu573Ala, XP_047279157.1:p.Glu594Ala, XP_047279152.1:p.Glu573Ala, XP_047279139.1:p.Glu594Ala, XP_047279153.1:p.Glu573Ala, XP_047279164.1:p.Glu573Ala, XP_047279159.1:p.Glu594Ala, XP_047279140.1:p.Glu573Ala, XP_047279165.1:p.Glu573Ala, XP_047279155.1:p.Glu573Ala, XP_047279160.1:p.Glu594Ala, XP_047279162.1:p.Glu573Ala

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