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Items: 1 to 20 of 1270

1.

rs1490348470 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:93186345 (GRCh38)
    1:93651902 (GRCh37)
    Canonical SPDI:
    NC_000001.11:93186344:A:G
    Gene:
    CCDC18 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,initiator_codon_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.93186345A>G, NC_000001.10:g.93651902A>G, XM_011541361.4:c.304A>G, XM_011541361.3:c.658A>G, XM_011541361.2:c.658A>G, XM_011541361.1:c.304A>G, NM_206886.4:c.304A>G, NM_206886.3:c.304A>G, XM_011541372.4:c.304A>G, XM_011541372.3:c.658A>G, XM_011541372.2:c.658A>G, XM_011541372.1:c.304A>G, XM_017001154.3:c.304A>G, XM_017001154.2:c.658A>G, XM_017001154.1:c.658A>G, XM_017001155.3:c.304A>G, XM_017001155.2:c.658A>G, XM_017001155.1:c.658A>G, XM_017001156.3:c.304A>G, XM_017001156.2:c.628A>G, XM_017001156.1:c.628A>G, XM_017001157.3:c.304A>G, XM_017001157.2:c.658A>G, XM_017001157.1:c.658A>G, XM_017001162.3:c.304A>G, XM_017001162.2:c.304A>G, XM_017001162.1:c.304A>G, XM_017001164.3:c.304A>G, XM_017001164.2:c.304A>G, XM_017001164.1:c.304A>G, XM_017001159.3:c.304A>G, XM_017001159.2:c.658A>G, XM_017001159.1:c.658A>G, XM_017001160.3:c.304A>G, XM_017001160.2:c.658A>G, XM_017001160.1:c.658A>G, XM_017001167.3:c.1A>G, XM_017001167.2:c.1A>G, XM_017001167.1:c.1A>G, XM_017001161.3:c.304A>G, XM_017001161.2:c.658A>G, XM_017001161.1:c.658A>G, XM_017001169.3:c.304A>G, XM_017001169.2:c.658A>G, XM_017001169.1:c.658A>G, XM_047419520.1:c.304A>G, XM_047419444.1:c.304A>G, XM_047419449.1:c.304A>G, XM_047419459.1:c.304A>G, XM_047419468.1:c.304A>G, XM_047419476.1:c.304A>G, XM_047419482.1:c.304A>G, XM_047419488.1:c.304A>G, XM_047419490.1:c.304A>G, XM_047419493.1:c.304A>G, XM_047419508.1:c.37A>G, XM_047419512.1:c.37A>G, XM_047419525.1:c.37A>G, XM_047419527.1:c.37A>G, NM_001306076.1:c.304A>G, NM_001378204.1:c.304A>G, XM_047419483.1:c.304A>G, XM_047419492.1:c.304A>G, XM_047419507.1:c.304A>G, XM_047419510.1:c.304A>G, XM_047419513.1:c.304A>G, XM_047419514.1:c.304A>G, XM_047419516.1:c.304A>G, XM_047419526.1:c.304A>G, XM_047419539.1:c.304A>G, XP_011539663.3:p.Met102Val, NP_996769.3:p.Met102Val, XP_011539674.3:p.Met102Val, XP_016856643.2:p.Met102Val, XP_016856644.2:p.Met102Val, XP_016856645.2:p.Met102Val, XP_016856646.2:p.Met102Val, XP_016856651.1:p.Met102Val, XP_016856653.1:p.Met102Val, XP_016856648.2:p.Met102Val, XP_016856649.2:p.Met102Val, XP_016856656.1:p.Met1Val, XP_016856650.2:p.Met102Val, XP_016856658.2:p.Met102Val, XP_047275476.1:p.Met102Val, XP_047275400.1:p.Met102Val, XP_047275405.1:p.Met102Val, XP_047275415.1:p.Met102Val, XP_047275424.1:p.Met102Val, XP_047275432.1:p.Met102Val, XP_047275438.1:p.Met102Val, XP_047275444.1:p.Met102Val, XP_047275446.1:p.Met102Val, XP_047275449.1:p.Met102Val, XP_047275464.1:p.Met13Val, XP_047275468.1:p.Met13Val, XP_047275481.1:p.Met13Val, XP_047275483.1:p.Met13Val, NP_001293005.1:p.Met102Val, NP_001365133.1:p.Met102Val, XP_047275439.1:p.Met102Val, XP_047275448.1:p.Met102Val, XP_047275463.1:p.Met102Val, XP_047275466.1:p.Met102Val, XP_047275469.1:p.Met102Val, XP_047275470.1:p.Met102Val, XP_047275472.1:p.Met102Val, XP_047275482.1:p.Met102Val, XP_047275495.1:p.Met102Val

    2.

    rs1489652510 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      1:93270769 (GRCh38)
      1:93736326 (GRCh37)
      Canonical SPDI:
      NC_000001.11:93270768:A:T
      Gene:
      CCDC18 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.93270769A>T, NC_000001.10:g.93736326A>T, XM_011541361.4:c.4308A>T, XM_011541361.3:c.4662A>T, XM_011541361.2:c.4662A>T, XM_011541361.1:c.4308A>T, XM_017001154.3:c.4308A>T, XM_017001154.2:c.4662A>T, XM_017001154.1:c.4662A>T, XM_017001155.3:c.4305A>T, XM_017001155.2:c.4659A>T, XM_017001155.1:c.4659A>T, XM_017001156.3:c.4308A>T, XM_017001156.2:c.4632A>T, XM_017001156.1:c.4632A>T, XM_017001157.3:c.4260A>T, XM_017001157.2:c.4614A>T, XM_017001157.1:c.4614A>T, XM_017001162.3:c.4308A>T, XM_017001162.2:c.4308A>T, XM_017001162.1:c.4308A>T, XM_017001164.3:c.4308A>T, XM_017001164.2:c.4308A>T, XM_017001164.1:c.4308A>T, XM_017001159.3:c.4176A>T, XM_017001159.2:c.4530A>T, XM_017001159.1:c.4530A>T, XM_017001160.3:c.4164A>T, XM_017001160.2:c.4518A>T, XM_017001160.1:c.4518A>T, XM_017001167.3:c.4005A>T, XM_017001167.2:c.4005A>T, XM_017001167.1:c.4005A>T, XM_017001161.3:c.4164A>T, XM_017001161.2:c.4518A>T, XM_017001161.1:c.4518A>T, XM_017001171.3:c.2292A>T, XM_017001171.2:c.2292A>T, XM_017001171.1:c.2292A>T, XM_047419520.1:c.*5814A>T, XM_047419444.1:c.4305A>T, XM_047419449.1:c.4257A>T, XM_047419459.1:c.4260A>T, XM_047419468.1:c.4257A>T, XM_047419476.1:c.4173A>T, XM_047419482.1:c.4161A>T, XM_047419488.1:c.4176A>T, XM_047419490.1:c.4173A>T, XM_047419493.1:c.4128A>T, XM_047419508.1:c.4041A>T, XM_047419512.1:c.4038A>T, XM_047419525.1:c.3909A>T, XM_047419527.1:c.3861A>T, XM_047419528.1:c.3345A>T, NM_001306076.1:c.4305A>T, NM_001378204.1:c.4308A>T, XM_047419483.1:c.4305A>T, XM_047419492.1:c.4257A>T, XP_011539663.3:p.Arg1436Ser, XP_016856643.2:p.Arg1436Ser, XP_016856644.2:p.Arg1435Ser, XP_016856645.2:p.Arg1436Ser, XP_016856646.2:p.Arg1420Ser, XP_016856651.1:p.Arg1436Ser, XP_016856653.1:p.Arg1436Ser, XP_016856648.2:p.Arg1392Ser, XP_016856649.2:p.Arg1388Ser, XP_016856656.1:p.Arg1335Ser, XP_016856650.2:p.Arg1388Ser, XP_016856660.1:p.Arg764Ser, XP_047275400.1:p.Arg1435Ser, XP_047275405.1:p.Arg1419Ser, XP_047275415.1:p.Arg1420Ser, XP_047275424.1:p.Arg1419Ser, XP_047275432.1:p.Arg1391Ser, XP_047275438.1:p.Arg1387Ser, XP_047275444.1:p.Arg1392Ser, XP_047275446.1:p.Arg1391Ser, XP_047275449.1:p.Arg1376Ser, XP_047275464.1:p.Arg1347Ser, XP_047275468.1:p.Arg1346Ser, XP_047275481.1:p.Arg1303Ser, XP_047275483.1:p.Arg1287Ser, XP_047275484.1:p.Arg1115Ser, NP_001293005.1:p.Arg1435Ser, NP_001365133.1:p.Arg1436Ser, XP_047275439.1:p.Arg1435Ser, XP_047275448.1:p.Arg1419Ser

      3.

      rs1489592514 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:93217765 (GRCh38)
        1:93683322 (GRCh37)
        Canonical SPDI:
        NC_000001.11:93217764:G:C
        Gene:
        CCDC18 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_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_000001.11:g.93217765G>C, NC_000001.10:g.93683322G>C, XM_011541361.4:c.1858G>C, XM_011541361.3:c.2212G>C, XM_011541361.2:c.2212G>C, XM_011541361.1:c.1858G>C, NM_206886.4:c.1858G>C, NM_206886.3:c.1858G>C, XM_011541372.4:c.1858G>C, XM_011541372.3:c.2212G>C, XM_011541372.2:c.2212G>C, XM_011541372.1:c.1858G>C, XM_017001154.3:c.1858G>C, XM_017001154.2:c.2212G>C, XM_017001154.1:c.2212G>C, XM_017001155.3:c.1855G>C, XM_017001155.2:c.2209G>C, XM_017001155.1:c.2209G>C, XM_017001156.3:c.1858G>C, XM_017001156.2:c.2182G>C, XM_017001156.1:c.2182G>C, XM_017001157.3:c.1810G>C, XM_017001157.2:c.2164G>C, XM_017001157.1:c.2164G>C, XM_017001162.3:c.1858G>C, XM_017001162.2:c.1858G>C, XM_017001162.1:c.1858G>C, XM_017001164.3:c.1858G>C, XM_017001164.2:c.1858G>C, XM_017001164.1:c.1858G>C, XM_017001160.3:c.1858G>C, XM_017001160.2:c.2212G>C, XM_017001160.1:c.2212G>C, XM_017001167.3:c.1555G>C, XM_017001167.2:c.1555G>C, XM_017001167.1:c.1555G>C, XM_017001161.3:c.1858G>C, XM_017001161.2:c.2212G>C, XM_017001161.1:c.2212G>C, XM_017001169.3:c.1858G>C, XM_017001169.2:c.2212G>C, XM_017001169.1:c.2212G>C, XM_047419520.1:c.1810G>C, XM_047419444.1:c.1855G>C, XM_047419449.1:c.1807G>C, XM_047419459.1:c.1810G>C, XM_047419468.1:c.1807G>C, XM_047419482.1:c.1855G>C, XM_047419508.1:c.1591G>C, XM_047419512.1:c.1588G>C, XM_047419528.1:c.895G>C, NM_001306076.1:c.1855G>C, NM_001378204.1:c.1858G>C, XM_047419483.1:c.1855G>C, XM_047419492.1:c.1807G>C, XM_047419507.1:c.1855G>C, XM_047419510.1:c.1858G>C, XM_047419513.1:c.1855G>C, XM_047419516.1:c.1858G>C, XM_047419526.1:c.1858G>C, XM_047419539.1:c.1858G>C, XP_011539663.3:p.Glu620Gln, NP_996769.3:p.Glu620Gln, XP_011539674.3:p.Glu620Gln, XP_016856643.2:p.Glu620Gln, XP_016856644.2:p.Glu619Gln, XP_016856645.2:p.Glu620Gln, XP_016856646.2:p.Glu604Gln, XP_016856651.1:p.Glu620Gln, XP_016856653.1:p.Glu620Gln, XP_016856649.2:p.Glu620Gln, XP_016856656.1:p.Glu519Gln, XP_016856650.2:p.Glu620Gln, XP_016856658.2:p.Glu620Gln, XP_047275476.1:p.Glu604Gln, XP_047275400.1:p.Glu619Gln, XP_047275405.1:p.Glu603Gln, XP_047275415.1:p.Glu604Gln, XP_047275424.1:p.Glu603Gln, XP_047275438.1:p.Glu619Gln, XP_047275464.1:p.Glu531Gln, XP_047275468.1:p.Glu530Gln, XP_047275484.1:p.Glu299Gln, NP_001293005.1:p.Glu619Gln, NP_001365133.1:p.Glu620Gln, XP_047275439.1:p.Glu619Gln, XP_047275448.1:p.Glu603Gln, XP_047275463.1:p.Glu619Gln, XP_047275466.1:p.Glu620Gln, XP_047275469.1:p.Glu619Gln, XP_047275472.1:p.Glu620Gln, XP_047275482.1:p.Glu620Gln, XP_047275495.1:p.Glu620Gln

        4.

        rs1489126022 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          1:93256463 (GRCh38)
          1:93722020 (GRCh37)
          Canonical SPDI:
          NC_000001.11:93256462:G:C
          Gene:
          CCDC18 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.93256463G>C, NC_000001.10:g.93722020G>C, XM_011541361.4:c.3471G>C, XM_011541361.3:c.3825G>C, XM_011541361.2:c.3825G>C, XM_011541361.1:c.3471G>C, NM_206886.4:c.3471G>C, NM_206886.3:c.3471G>C, XM_017001154.3:c.3471G>C, XM_017001154.2:c.3825G>C, XM_017001154.1:c.3825G>C, XM_017001155.3:c.3468G>C, XM_017001155.2:c.3822G>C, XM_017001155.1:c.3822G>C, XM_017001156.3:c.3471G>C, XM_017001156.2:c.3795G>C, XM_017001156.1:c.3795G>C, XM_017001157.3:c.3423G>C, XM_017001157.2:c.3777G>C, XM_017001157.1:c.3777G>C, XM_017001162.3:c.3471G>C, XM_017001162.2:c.3471G>C, XM_017001162.1:c.3471G>C, XM_017001164.3:c.3471G>C, XM_017001164.2:c.3471G>C, XM_017001164.1:c.3471G>C, XM_017001159.3:c.3339G>C, XM_017001159.2:c.3693G>C, XM_017001159.1:c.3693G>C, XM_017001160.3:c.3327G>C, XM_017001160.2:c.3681G>C, XM_017001160.1:c.3681G>C, XM_017001167.3:c.3168G>C, XM_017001167.2:c.3168G>C, XM_017001167.1:c.3168G>C, XM_017001161.3:c.3327G>C, XM_017001161.2:c.3681G>C, XM_017001161.1:c.3681G>C, XM_017001171.3:c.1455G>C, XM_017001171.2:c.1455G>C, XM_017001171.1:c.1455G>C, XM_047419520.1:c.3279G>C, XM_047419444.1:c.3468G>C, XM_047419449.1:c.3420G>C, XM_047419459.1:c.3423G>C, XM_047419468.1:c.3420G>C, XM_047419476.1:c.3336G>C, XM_047419482.1:c.3324G>C, XM_047419488.1:c.3339G>C, XM_047419490.1:c.3336G>C, XM_047419493.1:c.3291G>C, XM_047419508.1:c.3204G>C, XM_047419512.1:c.3201G>C, XM_047419525.1:c.3072G>C, XM_047419527.1:c.3024G>C, XM_047419528.1:c.2508G>C, NM_001306076.1:c.3468G>C, NM_001378204.1:c.3471G>C, XM_047419483.1:c.3468G>C, XM_047419492.1:c.3420G>C, XM_047419507.1:c.3468G>C, XM_047419510.1:c.3471G>C, XM_047419513.1:c.3468G>C, XM_047419514.1:c.3336G>C, XM_047419516.1:c.3327G>C, XM_047419526.1:c.3327G>C, XP_011539663.3:p.Gln1157His, NP_996769.3:p.Gln1157His, XP_016856643.2:p.Gln1157His, XP_016856644.2:p.Gln1156His, XP_016856645.2:p.Gln1157His, XP_016856646.2:p.Gln1141His, XP_016856651.1:p.Gln1157His, XP_016856653.1:p.Gln1157His, XP_016856648.2:p.Gln1113His, XP_016856649.2:p.Gln1109His, XP_016856656.1:p.Gln1056His, XP_016856650.2:p.Gln1109His, XP_016856660.1:p.Gln485His, XP_047275476.1:p.Gln1093His, XP_047275400.1:p.Gln1156His, XP_047275405.1:p.Gln1140His, XP_047275415.1:p.Gln1141His, XP_047275424.1:p.Gln1140His, XP_047275432.1:p.Gln1112His, XP_047275438.1:p.Gln1108His, XP_047275444.1:p.Gln1113His, XP_047275446.1:p.Gln1112His, XP_047275449.1:p.Gln1097His, XP_047275464.1:p.Gln1068His, XP_047275468.1:p.Gln1067His, XP_047275481.1:p.Gln1024His, XP_047275483.1:p.Gln1008His, XP_047275484.1:p.Gln836His, NP_001293005.1:p.Gln1156His, NP_001365133.1:p.Gln1157His, XP_047275439.1:p.Gln1156His, XP_047275448.1:p.Gln1140His, XP_047275463.1:p.Gln1156His, XP_047275466.1:p.Gln1157His, XP_047275469.1:p.Gln1156His, XP_047275470.1:p.Gln1112His, XP_047275472.1:p.Gln1109His, XP_047275482.1:p.Gln1109His

          5.

          rs1489022814 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            1:93217847 (GRCh38)
            1:93683404 (GRCh37)
            Canonical SPDI:
            NC_000001.11:93217846:A:C,NC_000001.11:93217846:A:T
            Gene:
            CCDC18 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.93217847A>C, NC_000001.11:g.93217847A>T, NC_000001.10:g.93683404A>C, NC_000001.10:g.93683404A>T, XM_011541361.4:c.1940A>C, XM_011541361.4:c.1940A>T, XM_011541361.3:c.2294A>C, XM_011541361.3:c.2294A>T, XM_011541361.2:c.2294A>C, XM_011541361.2:c.2294A>T, XM_011541361.1:c.1940A>C, XM_011541361.1:c.1940A>T, NM_206886.4:c.1940A>C, NM_206886.4:c.1940A>T, NM_206886.3:c.1940A>C, NM_206886.3:c.1940A>T, XM_011541372.4:c.1940A>C, XM_011541372.4:c.1940A>T, XM_011541372.3:c.2294A>C, XM_011541372.3:c.2294A>T, XM_011541372.2:c.2294A>C, XM_011541372.2:c.2294A>T, XM_011541372.1:c.1940A>C, XM_011541372.1:c.1940A>T, XM_017001154.3:c.1940A>C, XM_017001154.3:c.1940A>T, XM_017001154.2:c.2294A>C, XM_017001154.2:c.2294A>T, XM_017001154.1:c.2294A>C, XM_017001154.1:c.2294A>T, XM_017001155.3:c.1937A>C, XM_017001155.3:c.1937A>T, XM_017001155.2:c.2291A>C, XM_017001155.2:c.2291A>T, XM_017001155.1:c.2291A>C, XM_017001155.1:c.2291A>T, XM_017001156.3:c.1940A>C, XM_017001156.3:c.1940A>T, XM_017001156.2:c.2264A>C, XM_017001156.2:c.2264A>T, XM_017001156.1:c.2264A>C, XM_017001156.1:c.2264A>T, XM_017001157.3:c.1892A>C, XM_017001157.3:c.1892A>T, XM_017001157.2:c.2246A>C, XM_017001157.2:c.2246A>T, XM_017001157.1:c.2246A>C, XM_017001157.1:c.2246A>T, XM_017001162.3:c.1940A>C, XM_017001162.3:c.1940A>T, XM_017001162.2:c.1940A>C, XM_017001162.2:c.1940A>T, XM_017001162.1:c.1940A>C, XM_017001162.1:c.1940A>T, XM_017001164.3:c.1940A>C, XM_017001164.3:c.1940A>T, XM_017001164.2:c.1940A>C, XM_017001164.2:c.1940A>T, XM_017001164.1:c.1940A>C, XM_017001164.1:c.1940A>T, XM_017001160.3:c.1940A>C, XM_017001160.3:c.1940A>T, XM_017001160.2:c.2294A>C, XM_017001160.2:c.2294A>T, XM_017001160.1:c.2294A>C, XM_017001160.1:c.2294A>T, XM_017001167.3:c.1637A>C, XM_017001167.3:c.1637A>T, XM_017001167.2:c.1637A>C, XM_017001167.2:c.1637A>T, XM_017001167.1:c.1637A>C, XM_017001167.1:c.1637A>T, XM_017001161.3:c.1940A>C, XM_017001161.3:c.1940A>T, XM_017001161.2:c.2294A>C, XM_017001161.2:c.2294A>T, XM_017001161.1:c.2294A>C, XM_017001161.1:c.2294A>T, XM_017001169.3:c.1940A>C, XM_017001169.3:c.1940A>T, XM_017001169.2:c.2294A>C, XM_017001169.2:c.2294A>T, XM_017001169.1:c.2294A>C, XM_017001169.1:c.2294A>T, XM_047419520.1:c.1892A>C, XM_047419520.1:c.1892A>T, XM_047419444.1:c.1937A>C, XM_047419444.1:c.1937A>T, XM_047419449.1:c.1889A>C, XM_047419449.1:c.1889A>T, XM_047419459.1:c.1892A>C, XM_047419459.1:c.1892A>T, XM_047419468.1:c.1889A>C, XM_047419468.1:c.1889A>T, XM_047419482.1:c.1937A>C, XM_047419482.1:c.1937A>T, XM_047419508.1:c.1673A>C, XM_047419508.1:c.1673A>T, XM_047419512.1:c.1670A>C, XM_047419512.1:c.1670A>T, XM_047419528.1:c.977A>C, XM_047419528.1:c.977A>T, NM_001306076.1:c.1937A>C, NM_001306076.1:c.1937A>T, NM_001378204.1:c.1940A>C, NM_001378204.1:c.1940A>T, XM_047419483.1:c.1937A>C, XM_047419483.1:c.1937A>T, XM_047419492.1:c.1889A>C, XM_047419492.1:c.1889A>T, XM_047419507.1:c.1937A>C, XM_047419507.1:c.1937A>T, XM_047419510.1:c.1940A>C, XM_047419510.1:c.1940A>T, XM_047419513.1:c.1937A>C, XM_047419513.1:c.1937A>T, XM_047419516.1:c.1940A>C, XM_047419516.1:c.1940A>T, XM_047419526.1:c.1940A>C, XM_047419526.1:c.1940A>T, XM_047419539.1:c.1940A>C, XM_047419539.1:c.1940A>T, XP_011539663.3:p.Glu647Ala, XP_011539663.3:p.Glu647Val, NP_996769.3:p.Glu647Ala, NP_996769.3:p.Glu647Val, XP_011539674.3:p.Glu647Ala, XP_011539674.3:p.Glu647Val, XP_016856643.2:p.Glu647Ala, XP_016856643.2:p.Glu647Val, XP_016856644.2:p.Glu646Ala, XP_016856644.2:p.Glu646Val, XP_016856645.2:p.Glu647Ala, XP_016856645.2:p.Glu647Val, XP_016856646.2:p.Glu631Ala, XP_016856646.2:p.Glu631Val, XP_016856651.1:p.Glu647Ala, XP_016856651.1:p.Glu647Val, XP_016856653.1:p.Glu647Ala, XP_016856653.1:p.Glu647Val, XP_016856649.2:p.Glu647Ala, XP_016856649.2:p.Glu647Val, XP_016856656.1:p.Glu546Ala, XP_016856656.1:p.Glu546Val, XP_016856650.2:p.Glu647Ala, XP_016856650.2:p.Glu647Val, XP_016856658.2:p.Glu647Ala, XP_016856658.2:p.Glu647Val, XP_047275476.1:p.Glu631Ala, XP_047275476.1:p.Glu631Val, XP_047275400.1:p.Glu646Ala, XP_047275400.1:p.Glu646Val, XP_047275405.1:p.Glu630Ala, XP_047275405.1:p.Glu630Val, XP_047275415.1:p.Glu631Ala, XP_047275415.1:p.Glu631Val, XP_047275424.1:p.Glu630Ala, XP_047275424.1:p.Glu630Val, XP_047275438.1:p.Glu646Ala, XP_047275438.1:p.Glu646Val, XP_047275464.1:p.Glu558Ala, XP_047275464.1:p.Glu558Val, XP_047275468.1:p.Glu557Ala, XP_047275468.1:p.Glu557Val, XP_047275484.1:p.Glu326Ala, XP_047275484.1:p.Glu326Val, NP_001293005.1:p.Glu646Ala, NP_001293005.1:p.Glu646Val, NP_001365133.1:p.Glu647Ala, NP_001365133.1:p.Glu647Val, XP_047275439.1:p.Glu646Ala, XP_047275439.1:p.Glu646Val, XP_047275448.1:p.Glu630Ala, XP_047275448.1:p.Glu630Val, XP_047275463.1:p.Glu646Ala, XP_047275463.1:p.Glu646Val, XP_047275466.1:p.Glu647Ala, XP_047275466.1:p.Glu647Val, XP_047275469.1:p.Glu646Ala, XP_047275469.1:p.Glu646Val, XP_047275472.1:p.Glu647Ala, XP_047275472.1:p.Glu647Val, XP_047275482.1:p.Glu647Ala, XP_047275482.1:p.Glu647Val, XP_047275495.1:p.Glu647Ala, XP_047275495.1:p.Glu647Val

            6.

            rs1488601113 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              1:93183467 (GRCh38)
              1:93649024 (GRCh37)
              Canonical SPDI:
              NC_000001.11:93183466:T:G
              Gene:
              CCDC18 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.93183467T>G, NC_000001.10:g.93649024T>G, XM_011541361.4:c.106T>G, XM_011541361.3:c.460T>G, XM_011541361.2:c.460T>G, XM_011541361.1:c.106T>G, NM_206886.4:c.106T>G, NM_206886.3:c.106T>G, XM_011541372.4:c.106T>G, XM_011541372.3:c.460T>G, XM_011541372.2:c.460T>G, XM_011541372.1:c.106T>G, XM_017001154.3:c.106T>G, XM_017001154.2:c.460T>G, XM_017001154.1:c.460T>G, XM_017001155.3:c.106T>G, XM_017001155.2:c.460T>G, XM_017001155.1:c.460T>G, XM_017001156.3:c.106T>G, XM_017001156.2:c.430T>G, XM_017001156.1:c.430T>G, XM_017001157.3:c.106T>G, XM_017001157.2:c.460T>G, XM_017001157.1:c.460T>G, XM_017001162.3:c.106T>G, XM_017001162.2:c.106T>G, XM_017001162.1:c.106T>G, XM_017001164.3:c.106T>G, XM_017001164.2:c.106T>G, XM_017001164.1:c.106T>G, XM_017001159.3:c.106T>G, XM_017001159.2:c.460T>G, XM_017001159.1:c.460T>G, XM_017001160.3:c.106T>G, XM_017001160.2:c.460T>G, XM_017001160.1:c.460T>G, XM_017001161.3:c.106T>G, XM_017001161.2:c.460T>G, XM_017001161.1:c.460T>G, XM_017001169.3:c.106T>G, XM_017001169.2:c.460T>G, XM_017001169.1:c.460T>G, XM_047419520.1:c.106T>G, XM_047419444.1:c.106T>G, XM_047419449.1:c.106T>G, XM_047419459.1:c.106T>G, XM_047419468.1:c.106T>G, XM_047419476.1:c.106T>G, XM_047419482.1:c.106T>G, XM_047419488.1:c.106T>G, XM_047419490.1:c.106T>G, XM_047419493.1:c.106T>G, XM_047419508.1:c.8T>G, XM_047419512.1:c.8T>G, XM_047419525.1:c.8T>G, XM_047419527.1:c.8T>G, NM_001306076.1:c.106T>G, NM_001378204.1:c.106T>G, XM_047419483.1:c.106T>G, XM_047419492.1:c.106T>G, XM_047419507.1:c.106T>G, XM_047419510.1:c.106T>G, XM_047419513.1:c.106T>G, XM_047419514.1:c.106T>G, XM_047419516.1:c.106T>G, XM_047419526.1:c.106T>G, XM_047419539.1:c.106T>G, XP_011539663.3:p.Leu36Val, NP_996769.3:p.Leu36Val, XP_011539674.3:p.Leu36Val, XP_016856643.2:p.Leu36Val, XP_016856644.2:p.Leu36Val, XP_016856645.2:p.Leu36Val, XP_016856646.2:p.Leu36Val, XP_016856651.1:p.Leu36Val, XP_016856653.1:p.Leu36Val, XP_016856648.2:p.Leu36Val, XP_016856649.2:p.Leu36Val, XP_016856650.2:p.Leu36Val, XP_016856658.2:p.Leu36Val, XP_047275476.1:p.Leu36Val, XP_047275400.1:p.Leu36Val, XP_047275405.1:p.Leu36Val, XP_047275415.1:p.Leu36Val, XP_047275424.1:p.Leu36Val, XP_047275432.1:p.Leu36Val, XP_047275438.1:p.Leu36Val, XP_047275444.1:p.Leu36Val, XP_047275446.1:p.Leu36Val, XP_047275449.1:p.Leu36Val, XP_047275464.1:p.Phe3Cys, XP_047275468.1:p.Phe3Cys, XP_047275481.1:p.Phe3Cys, XP_047275483.1:p.Phe3Cys, NP_001293005.1:p.Leu36Val, NP_001365133.1:p.Leu36Val, XP_047275439.1:p.Leu36Val, XP_047275448.1:p.Leu36Val, XP_047275463.1:p.Leu36Val, XP_047275466.1:p.Leu36Val, XP_047275469.1:p.Leu36Val, XP_047275470.1:p.Leu36Val, XP_047275472.1:p.Leu36Val, XP_047275482.1:p.Leu36Val, XP_047275495.1:p.Leu36Val

              7.

              rs1487757656 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:93184108 (GRCh38)
                1:93649665 (GRCh37)
                Canonical SPDI:
                NC_000001.11:93184107:G:A
                Gene:
                CCDC18 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                A=0.000029/4 (GnomAD)
                HGVS:
                NC_000001.11:g.93184108G>A, NC_000001.10:g.93649665G>A, XM_011541361.4:c.265G>A, XM_011541361.3:c.619G>A, XM_011541361.2:c.619G>A, XM_011541361.1:c.265G>A, NM_206886.4:c.265G>A, NM_206886.3:c.265G>A, XM_011541372.4:c.265G>A, XM_011541372.3:c.619G>A, XM_011541372.2:c.619G>A, XM_011541372.1:c.265G>A, XM_017001154.3:c.265G>A, XM_017001154.2:c.619G>A, XM_017001154.1:c.619G>A, XM_017001155.3:c.265G>A, XM_017001155.2:c.619G>A, XM_017001155.1:c.619G>A, XM_017001156.3:c.265G>A, XM_017001156.2:c.589G>A, XM_017001156.1:c.589G>A, XM_017001157.3:c.265G>A, XM_017001157.2:c.619G>A, XM_017001157.1:c.619G>A, XM_017001162.3:c.265G>A, XM_017001162.2:c.265G>A, XM_017001162.1:c.265G>A, XM_017001164.3:c.265G>A, XM_017001164.2:c.265G>A, XM_017001164.1:c.265G>A, XM_017001159.3:c.265G>A, XM_017001159.2:c.619G>A, XM_017001159.1:c.619G>A, XM_017001160.3:c.265G>A, XM_017001160.2:c.619G>A, XM_017001160.1:c.619G>A, XM_017001161.3:c.265G>A, XM_017001161.2:c.619G>A, XM_017001161.1:c.619G>A, XM_017001169.3:c.265G>A, XM_017001169.2:c.619G>A, XM_017001169.1:c.619G>A, XM_047419520.1:c.265G>A, XM_047419444.1:c.265G>A, XM_047419449.1:c.265G>A, XM_047419459.1:c.265G>A, XM_047419468.1:c.265G>A, XM_047419476.1:c.265G>A, XM_047419482.1:c.265G>A, XM_047419488.1:c.265G>A, XM_047419490.1:c.265G>A, XM_047419493.1:c.265G>A, NM_001306076.1:c.265G>A, NM_001378204.1:c.265G>A, XM_047419483.1:c.265G>A, XM_047419492.1:c.265G>A, XM_047419507.1:c.265G>A, XM_047419510.1:c.265G>A, XM_047419513.1:c.265G>A, XM_047419514.1:c.265G>A, XM_047419516.1:c.265G>A, XM_047419526.1:c.265G>A, XM_047419539.1:c.265G>A, XP_011539663.3:p.Gly89Ser, NP_996769.3:p.Gly89Ser, XP_011539674.3:p.Gly89Ser, XP_016856643.2:p.Gly89Ser, XP_016856644.2:p.Gly89Ser, XP_016856645.2:p.Gly89Ser, XP_016856646.2:p.Gly89Ser, XP_016856651.1:p.Gly89Ser, XP_016856653.1:p.Gly89Ser, XP_016856648.2:p.Gly89Ser, XP_016856649.2:p.Gly89Ser, XP_016856650.2:p.Gly89Ser, XP_016856658.2:p.Gly89Ser, XP_047275476.1:p.Gly89Ser, XP_047275400.1:p.Gly89Ser, XP_047275405.1:p.Gly89Ser, XP_047275415.1:p.Gly89Ser, XP_047275424.1:p.Gly89Ser, XP_047275432.1:p.Gly89Ser, XP_047275438.1:p.Gly89Ser, XP_047275444.1:p.Gly89Ser, XP_047275446.1:p.Gly89Ser, XP_047275449.1:p.Gly89Ser, NP_001293005.1:p.Gly89Ser, NP_001365133.1:p.Gly89Ser, XP_047275439.1:p.Gly89Ser, XP_047275448.1:p.Gly89Ser, XP_047275463.1:p.Gly89Ser, XP_047275466.1:p.Gly89Ser, XP_047275469.1:p.Gly89Ser, XP_047275470.1:p.Gly89Ser, XP_047275472.1:p.Gly89Ser, XP_047275482.1:p.Gly89Ser, XP_047275495.1:p.Gly89Ser

                8.

                rs1485850158 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AGAGCAG>- [Show Flanks]
                  Chromosome:
                  1:93246193 (GRCh38)
                  1:93711750 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:93246192:AGAGCAG:
                  Gene:
                  CCDC18 (Varview)
                  Functional Consequence:
                  frameshift_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (GnomAD_exomes)
                  -=0.000008/2 (TOPMED)
                  -=0.000036/5 (GnomAD)
                  HGVS:
                  NC_000001.11:g.93246193_93246199del, NC_000001.10:g.93711750_93711756del, XM_011541361.4:c.3070_3076del, XM_011541361.3:c.3424_3430del, XM_011541361.2:c.3424_3430del, XM_011541361.1:c.3070_3076del, NM_206886.4:c.3070_3076del, NM_206886.3:c.3070_3076del, XM_017001154.3:c.3070_3076del, XM_017001154.2:c.3424_3430del, XM_017001154.1:c.3424_3430del, XM_017001155.3:c.3067_3073del, XM_017001155.2:c.3421_3427del, XM_017001155.1:c.3421_3427del, XM_017001156.3:c.3070_3076del, XM_017001156.2:c.3394_3400del, XM_017001156.1:c.3394_3400del, XM_017001157.3:c.3022_3028del, XM_017001157.2:c.3376_3382del, XM_017001157.1:c.3376_3382del, XM_017001162.3:c.3070_3076del, XM_017001162.2:c.3070_3076del, XM_017001162.1:c.3070_3076del, XM_017001164.3:c.3070_3076del, XM_017001164.2:c.3070_3076del, XM_017001164.1:c.3070_3076del, XM_017001159.3:c.2938_2944del, XM_017001159.2:c.3292_3298del, XM_017001159.1:c.3292_3298del, XM_017001160.3:c.3070_3076del, XM_017001160.2:c.3424_3430del, XM_017001160.1:c.3424_3430del, XM_017001167.3:c.2767_2773del, XM_017001167.2:c.2767_2773del, XM_017001167.1:c.2767_2773del, XM_017001161.3:c.3070_3076del, XM_017001161.2:c.3424_3430del, XM_017001161.1:c.3424_3430del, XM_017001171.3:c.1054_1060del, XM_017001171.2:c.1054_1060del, XM_017001171.1:c.1054_1060del, XM_047419520.1:c.3022_3028del, XM_047419444.1:c.3067_3073del, XM_047419449.1:c.3019_3025del, XM_047419459.1:c.3022_3028del, XM_047419468.1:c.3019_3025del, XM_047419476.1:c.2935_2941del, XM_047419482.1:c.3067_3073del, XM_047419488.1:c.2938_2944del, XM_047419490.1:c.2935_2941del, XM_047419493.1:c.2890_2896del, XM_047419508.1:c.2803_2809del, XM_047419512.1:c.2800_2806del, XM_047419525.1:c.2671_2677del, XM_047419527.1:c.2623_2629del, XM_047419528.1:c.2107_2113del, NM_001306076.1:c.3067_3073del, NM_001378204.1:c.3070_3076del, XM_047419483.1:c.3067_3073del, XM_047419492.1:c.3019_3025del, XM_047419507.1:c.3067_3073del, XM_047419510.1:c.3070_3076del, XM_047419513.1:c.3067_3073del, XM_047419514.1:c.2935_2941del, XM_047419516.1:c.3070_3076del, XM_047419526.1:c.3070_3076del, XP_011539663.3:p.Arg1024fs, NP_996769.3:p.Arg1024fs, XP_016856643.2:p.Arg1024fs, XP_016856644.2:p.Arg1023fs, XP_016856645.2:p.Arg1024fs, XP_016856646.2:p.Arg1008fs, XP_016856651.1:p.Arg1024fs, XP_016856653.1:p.Arg1024fs, XP_016856648.2:p.Arg980fs, XP_016856649.2:p.Arg1024fs, XP_016856656.1:p.Arg923fs, XP_016856650.2:p.Arg1024fs, XP_016856660.1:p.Arg352fs, XP_047275476.1:p.Arg1008fs, XP_047275400.1:p.Arg1023fs, XP_047275405.1:p.Arg1007fs, XP_047275415.1:p.Arg1008fs, XP_047275424.1:p.Arg1007fs, XP_047275432.1:p.Arg979fs, XP_047275438.1:p.Arg1023fs, XP_047275444.1:p.Arg980fs, XP_047275446.1:p.Arg979fs, XP_047275449.1:p.Arg964fs, XP_047275464.1:p.Arg935fs, XP_047275468.1:p.Arg934fs, XP_047275481.1:p.Arg891fs, XP_047275483.1:p.Arg875fs, XP_047275484.1:p.Arg703fs, NP_001293005.1:p.Arg1023fs, NP_001365133.1:p.Arg1024fs, XP_047275439.1:p.Arg1023fs, XP_047275448.1:p.Arg1007fs, XP_047275463.1:p.Arg1023fs, XP_047275466.1:p.Arg1024fs, XP_047275469.1:p.Arg1023fs, XP_047275470.1:p.Arg979fs, XP_047275472.1:p.Arg1024fs, XP_047275482.1:p.Arg1024fs

                  9.

                  rs1485550490 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TT [Show Flanks]
                    Chromosome:
                    1:93270721 (GRCh38)
                    1:93736279 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:93270721:TTT:TTTTT
                    Gene:
                    CCDC18 (Varview)
                    Functional Consequence:
                    frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TTTTT=0./0 (ALFA)
                    TT=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.93270723_93270724dup, NC_000001.10:g.93736280_93736281dup, XM_011541361.4:c.4262_4263dup, XM_011541361.3:c.4616_4617dup, XM_011541361.2:c.4616_4617dup, XM_011541361.1:c.4262_4263dup, XM_017001154.3:c.4262_4263dup, XM_017001154.2:c.4616_4617dup, XM_017001154.1:c.4616_4617dup, XM_017001155.3:c.4259_4260dup, XM_017001155.2:c.4613_4614dup, XM_017001155.1:c.4613_4614dup, XM_017001156.3:c.4262_4263dup, XM_017001156.2:c.4586_4587dup, XM_017001156.1:c.4586_4587dup, XM_017001157.3:c.4214_4215dup, XM_017001157.2:c.4568_4569dup, XM_017001157.1:c.4568_4569dup, XM_017001162.3:c.4262_4263dup, XM_017001162.2:c.4262_4263dup, XM_017001162.1:c.4262_4263dup, XM_017001164.3:c.4262_4263dup, XM_017001164.2:c.4262_4263dup, XM_017001164.1:c.4262_4263dup, XM_017001159.3:c.4130_4131dup, XM_017001159.2:c.4484_4485dup, XM_017001159.1:c.4484_4485dup, XM_017001160.3:c.4118_4119dup, XM_017001160.2:c.4472_4473dup, XM_017001160.1:c.4472_4473dup, XM_017001167.3:c.3959_3960dup, XM_017001167.2:c.3959_3960dup, XM_017001167.1:c.3959_3960dup, XM_017001161.3:c.4118_4119dup, XM_017001161.2:c.4472_4473dup, XM_017001161.1:c.4472_4473dup, XM_017001171.3:c.2246_2247dup, XM_017001171.2:c.2246_2247dup, XM_017001171.1:c.2246_2247dup, XM_047419520.1:c.*5768_*5769dup, XM_047419444.1:c.4259_4260dup, XM_047419449.1:c.4211_4212dup, XM_047419459.1:c.4214_4215dup, XM_047419468.1:c.4211_4212dup, XM_047419476.1:c.4127_4128dup, XM_047419482.1:c.4115_4116dup, XM_047419488.1:c.4130_4131dup, XM_047419490.1:c.4127_4128dup, XM_047419493.1:c.4082_4083dup, XM_047419508.1:c.3995_3996dup, XM_047419512.1:c.3992_3993dup, XM_047419525.1:c.3863_3864dup, XM_047419527.1:c.3815_3816dup, XM_047419528.1:c.3299_3300dup, NM_001306076.1:c.4259_4260dup, NM_001378204.1:c.4262_4263dup, XM_047419483.1:c.4259_4260dup, XM_047419492.1:c.4211_4212dup, XP_011539663.3:p.Asn1422fs, XP_016856643.2:p.Asn1422fs, XP_016856644.2:p.Asn1421fs, XP_016856645.2:p.Asn1422fs, XP_016856646.2:p.Asn1406fs, XP_016856651.1:p.Asn1422fs, XP_016856653.1:p.Asn1422fs, XP_016856648.2:p.Asn1378fs, XP_016856649.2:p.Asn1374fs, XP_016856656.1:p.Asn1321fs, XP_016856650.2:p.Asn1374fs, XP_016856660.1:p.Asn750fs, XP_047275400.1:p.Asn1421fs, XP_047275405.1:p.Asn1405fs, XP_047275415.1:p.Asn1406fs, XP_047275424.1:p.Asn1405fs, XP_047275432.1:p.Asn1377fs, XP_047275438.1:p.Asn1373fs, XP_047275444.1:p.Asn1378fs, XP_047275446.1:p.Asn1377fs, XP_047275449.1:p.Asn1362fs, XP_047275464.1:p.Asn1333fs, XP_047275468.1:p.Asn1332fs, XP_047275481.1:p.Asn1289fs, XP_047275483.1:p.Asn1273fs, XP_047275484.1:p.Asn1101fs, NP_001293005.1:p.Asn1421fs, NP_001365133.1:p.Asn1422fs, XP_047275439.1:p.Asn1421fs, XP_047275448.1:p.Asn1405fs

                    10.

                    rs1485148386 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      1:93186439 (GRCh38)
                      1:93651996 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:93186438:A:C
                      Gene:
                      CCDC18 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.93186439A>C, NC_000001.10:g.93651996A>C, XM_011541361.4:c.398A>C, XM_011541361.3:c.752A>C, XM_011541361.2:c.752A>C, XM_011541361.1:c.398A>C, NM_206886.4:c.398A>C, NM_206886.3:c.398A>C, XM_011541372.4:c.398A>C, XM_011541372.3:c.752A>C, XM_011541372.2:c.752A>C, XM_011541372.1:c.398A>C, XM_017001154.3:c.398A>C, XM_017001154.2:c.752A>C, XM_017001154.1:c.752A>C, XM_017001155.3:c.398A>C, XM_017001155.2:c.752A>C, XM_017001155.1:c.752A>C, XM_017001156.3:c.398A>C, XM_017001156.2:c.722A>C, XM_017001156.1:c.722A>C, XM_017001157.3:c.398A>C, XM_017001157.2:c.752A>C, XM_017001157.1:c.752A>C, XM_017001162.3:c.398A>C, XM_017001162.2:c.398A>C, XM_017001162.1:c.398A>C, XM_017001164.3:c.398A>C, XM_017001164.2:c.398A>C, XM_017001164.1:c.398A>C, XM_017001159.3:c.398A>C, XM_017001159.2:c.752A>C, XM_017001159.1:c.752A>C, XM_017001160.3:c.398A>C, XM_017001160.2:c.752A>C, XM_017001160.1:c.752A>C, XM_017001167.3:c.95A>C, XM_017001167.2:c.95A>C, XM_017001167.1:c.95A>C, XM_017001161.3:c.398A>C, XM_017001161.2:c.752A>C, XM_017001161.1:c.752A>C, XM_017001169.3:c.398A>C, XM_017001169.2:c.752A>C, XM_017001169.1:c.752A>C, XM_047419520.1:c.398A>C, XM_047419444.1:c.398A>C, XM_047419449.1:c.398A>C, XM_047419459.1:c.398A>C, XM_047419468.1:c.398A>C, XM_047419476.1:c.398A>C, XM_047419482.1:c.398A>C, XM_047419488.1:c.398A>C, XM_047419490.1:c.398A>C, XM_047419493.1:c.398A>C, XM_047419508.1:c.131A>C, XM_047419512.1:c.131A>C, XM_047419525.1:c.131A>C, XM_047419527.1:c.131A>C, NM_001306076.1:c.398A>C, NM_001378204.1:c.398A>C, XM_047419483.1:c.398A>C, XM_047419492.1:c.398A>C, XM_047419507.1:c.398A>C, XM_047419510.1:c.398A>C, XM_047419513.1:c.398A>C, XM_047419514.1:c.398A>C, XM_047419516.1:c.398A>C, XM_047419526.1:c.398A>C, XM_047419539.1:c.398A>C, XP_011539663.3:p.Gln133Pro, NP_996769.3:p.Gln133Pro, XP_011539674.3:p.Gln133Pro, XP_016856643.2:p.Gln133Pro, XP_016856644.2:p.Gln133Pro, XP_016856645.2:p.Gln133Pro, XP_016856646.2:p.Gln133Pro, XP_016856651.1:p.Gln133Pro, XP_016856653.1:p.Gln133Pro, XP_016856648.2:p.Gln133Pro, XP_016856649.2:p.Gln133Pro, XP_016856656.1:p.Gln32Pro, XP_016856650.2:p.Gln133Pro, XP_016856658.2:p.Gln133Pro, XP_047275476.1:p.Gln133Pro, XP_047275400.1:p.Gln133Pro, XP_047275405.1:p.Gln133Pro, XP_047275415.1:p.Gln133Pro, XP_047275424.1:p.Gln133Pro, XP_047275432.1:p.Gln133Pro, XP_047275438.1:p.Gln133Pro, XP_047275444.1:p.Gln133Pro, XP_047275446.1:p.Gln133Pro, XP_047275449.1:p.Gln133Pro, XP_047275464.1:p.Gln44Pro, XP_047275468.1:p.Gln44Pro, XP_047275481.1:p.Gln44Pro, XP_047275483.1:p.Gln44Pro, NP_001293005.1:p.Gln133Pro, NP_001365133.1:p.Gln133Pro, XP_047275439.1:p.Gln133Pro, XP_047275448.1:p.Gln133Pro, XP_047275463.1:p.Gln133Pro, XP_047275466.1:p.Gln133Pro, XP_047275469.1:p.Gln133Pro, XP_047275470.1:p.Gln133Pro, XP_047275472.1:p.Gln133Pro, XP_047275482.1:p.Gln133Pro, XP_047275495.1:p.Gln133Pro

                      11.

                      rs1484903467 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:93232567 (GRCh38)
                        1:93698124 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:93232566:G:T
                        Gene:
                        CCDC18 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.93232567G>T, NC_000001.10:g.93698124G>T, XM_011541361.4:c.2434G>T, XM_011541361.3:c.2788G>T, XM_011541361.2:c.2788G>T, XM_011541361.1:c.2434G>T, NM_206886.4:c.2434G>T, NM_206886.3:c.2434G>T, XM_011541372.4:c.2434G>T, XM_011541372.3:c.2788G>T, XM_011541372.2:c.2788G>T, XM_011541372.1:c.2434G>T, XM_017001154.3:c.2434G>T, XM_017001154.2:c.2788G>T, XM_017001154.1:c.2788G>T, XM_017001155.3:c.2431G>T, XM_017001155.2:c.2785G>T, XM_017001155.1:c.2785G>T, XM_017001156.3:c.2434G>T, XM_017001156.2:c.2758G>T, XM_017001156.1:c.2758G>T, XM_017001157.3:c.2386G>T, XM_017001157.2:c.2740G>T, XM_017001157.1:c.2740G>T, XM_017001162.3:c.2434G>T, XM_017001162.2:c.2434G>T, XM_017001162.1:c.2434G>T, XM_017001164.3:c.2434G>T, XM_017001164.2:c.2434G>T, XM_017001164.1:c.2434G>T, XM_017001159.3:c.2302G>T, XM_017001159.2:c.2656G>T, XM_017001159.1:c.2656G>T, XM_017001160.3:c.2434G>T, XM_017001160.2:c.2788G>T, XM_017001160.1:c.2788G>T, XM_017001167.3:c.2131G>T, XM_017001167.2:c.2131G>T, XM_017001167.1:c.2131G>T, XM_017001161.3:c.2434G>T, XM_017001161.2:c.2788G>T, XM_017001161.1:c.2788G>T, XM_017001171.3:c.418G>T, XM_017001171.2:c.418G>T, XM_017001171.1:c.418G>T, XM_017001169.3:c.2434G>T, XM_017001169.2:c.2788G>T, XM_017001169.1:c.2788G>T, XM_047419520.1:c.2386G>T, XM_047419444.1:c.2431G>T, XM_047419449.1:c.2383G>T, XM_047419459.1:c.2386G>T, XM_047419468.1:c.2383G>T, XM_047419476.1:c.2299G>T, XM_047419482.1:c.2431G>T, XM_047419488.1:c.2302G>T, XM_047419490.1:c.2299G>T, XM_047419493.1:c.2254G>T, XM_047419508.1:c.2167G>T, XM_047419512.1:c.2164G>T, XM_047419525.1:c.2035G>T, XM_047419527.1:c.1987G>T, XM_047419528.1:c.1471G>T, NM_001306076.1:c.2431G>T, NM_001378204.1:c.2434G>T, XM_047419483.1:c.2431G>T, XM_047419492.1:c.2383G>T, XM_047419507.1:c.2431G>T, XM_047419510.1:c.2434G>T, XM_047419513.1:c.2431G>T, XM_047419514.1:c.2299G>T, XM_047419516.1:c.2434G>T, XM_047419526.1:c.2434G>T, XP_011539663.3:p.Asp812Tyr, NP_996769.3:p.Asp812Tyr, XP_011539674.3:p.Asp812Tyr, XP_016856643.2:p.Asp812Tyr, XP_016856644.2:p.Asp811Tyr, XP_016856645.2:p.Asp812Tyr, XP_016856646.2:p.Asp796Tyr, XP_016856651.1:p.Asp812Tyr, XP_016856653.1:p.Asp812Tyr, XP_016856648.2:p.Asp768Tyr, XP_016856649.2:p.Asp812Tyr, XP_016856656.1:p.Asp711Tyr, XP_016856650.2:p.Asp812Tyr, XP_016856660.1:p.Asp140Tyr, XP_016856658.2:p.Asp812Tyr, XP_047275476.1:p.Asp796Tyr, XP_047275400.1:p.Asp811Tyr, XP_047275405.1:p.Asp795Tyr, XP_047275415.1:p.Asp796Tyr, XP_047275424.1:p.Asp795Tyr, XP_047275432.1:p.Asp767Tyr, XP_047275438.1:p.Asp811Tyr, XP_047275444.1:p.Asp768Tyr, XP_047275446.1:p.Asp767Tyr, XP_047275449.1:p.Asp752Tyr, XP_047275464.1:p.Asp723Tyr, XP_047275468.1:p.Asp722Tyr, XP_047275481.1:p.Asp679Tyr, XP_047275483.1:p.Asp663Tyr, XP_047275484.1:p.Asp491Tyr, NP_001293005.1:p.Asp811Tyr, NP_001365133.1:p.Asp812Tyr, XP_047275439.1:p.Asp811Tyr, XP_047275448.1:p.Asp795Tyr, XP_047275463.1:p.Asp811Tyr, XP_047275466.1:p.Asp812Tyr, XP_047275469.1:p.Asp811Tyr, XP_047275470.1:p.Asp767Tyr, XP_047275472.1:p.Asp812Tyr, XP_047275482.1:p.Asp812Tyr

                        12.

                        rs1484304113 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          1:93217757 (GRCh38)
                          1:93683314 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:93217756:G:T
                          Gene:
                          CCDC18 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.93217757G>T, NC_000001.10:g.93683314G>T, XM_011541361.4:c.1850G>T, XM_011541361.3:c.2204G>T, XM_011541361.2:c.2204G>T, XM_011541361.1:c.1850G>T, NM_206886.4:c.1850G>T, NM_206886.3:c.1850G>T, XM_011541372.4:c.1850G>T, XM_011541372.3:c.2204G>T, XM_011541372.2:c.2204G>T, XM_011541372.1:c.1850G>T, XM_017001154.3:c.1850G>T, XM_017001154.2:c.2204G>T, XM_017001154.1:c.2204G>T, XM_017001155.3:c.1847G>T, XM_017001155.2:c.2201G>T, XM_017001155.1:c.2201G>T, XM_017001156.3:c.1850G>T, XM_017001156.2:c.2174G>T, XM_017001156.1:c.2174G>T, XM_017001157.3:c.1802G>T, XM_017001157.2:c.2156G>T, XM_017001157.1:c.2156G>T, XM_017001162.3:c.1850G>T, XM_017001162.2:c.1850G>T, XM_017001162.1:c.1850G>T, XM_017001164.3:c.1850G>T, XM_017001164.2:c.1850G>T, XM_017001164.1:c.1850G>T, XM_017001160.3:c.1850G>T, XM_017001160.2:c.2204G>T, XM_017001160.1:c.2204G>T, XM_017001167.3:c.1547G>T, XM_017001167.2:c.1547G>T, XM_017001167.1:c.1547G>T, XM_017001161.3:c.1850G>T, XM_017001161.2:c.2204G>T, XM_017001161.1:c.2204G>T, XM_017001169.3:c.1850G>T, XM_017001169.2:c.2204G>T, XM_017001169.1:c.2204G>T, XM_047419520.1:c.1802G>T, XM_047419444.1:c.1847G>T, XM_047419449.1:c.1799G>T, XM_047419459.1:c.1802G>T, XM_047419468.1:c.1799G>T, XM_047419482.1:c.1847G>T, XM_047419508.1:c.1583G>T, XM_047419512.1:c.1580G>T, XM_047419528.1:c.887G>T, NM_001306076.1:c.1847G>T, NM_001378204.1:c.1850G>T, XM_047419483.1:c.1847G>T, XM_047419492.1:c.1799G>T, XM_047419507.1:c.1847G>T, XM_047419510.1:c.1850G>T, XM_047419513.1:c.1847G>T, XM_047419516.1:c.1850G>T, XM_047419526.1:c.1850G>T, XM_047419539.1:c.1850G>T, XP_011539663.3:p.Arg617Met, NP_996769.3:p.Arg617Met, XP_011539674.3:p.Arg617Met, XP_016856643.2:p.Arg617Met, XP_016856644.2:p.Arg616Met, XP_016856645.2:p.Arg617Met, XP_016856646.2:p.Arg601Met, XP_016856651.1:p.Arg617Met, XP_016856653.1:p.Arg617Met, XP_016856649.2:p.Arg617Met, XP_016856656.1:p.Arg516Met, XP_016856650.2:p.Arg617Met, XP_016856658.2:p.Arg617Met, XP_047275476.1:p.Arg601Met, XP_047275400.1:p.Arg616Met, XP_047275405.1:p.Arg600Met, XP_047275415.1:p.Arg601Met, XP_047275424.1:p.Arg600Met, XP_047275438.1:p.Arg616Met, XP_047275464.1:p.Arg528Met, XP_047275468.1:p.Arg527Met, XP_047275484.1:p.Arg296Met, NP_001293005.1:p.Arg616Met, NP_001365133.1:p.Arg617Met, XP_047275439.1:p.Arg616Met, XP_047275448.1:p.Arg600Met, XP_047275463.1:p.Arg616Met, XP_047275466.1:p.Arg617Met, XP_047275469.1:p.Arg616Met, XP_047275472.1:p.Arg617Met, XP_047275482.1:p.Arg617Met, XP_047275495.1:p.Arg617Met

                          13.

                          rs1484209355 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->CAAAAC [Show Flanks]
                            Chromosome:
                            1:93226427 (GRCh38)
                            1:93691985 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:93226427::CAAAAC
                            Gene:
                            CCDC18 (Varview), LOC107985521 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,inframe_indel,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                            HGVS:
                            NC_000001.11:g.93226427_93226428insCAAAAC, NC_000001.10:g.93691984_93691985insCAAAAC, XM_011541361.4:c.2270_2271insCAAAAC, XM_011541361.3:c.2624_2625insCAAAAC, XM_011541361.2:c.2624_2625insCAAAAC, XM_011541361.1:c.2270_2271insCAAAAC, NM_206886.4:c.2270_2271insCAAAAC, NM_206886.3:c.2270_2271insCAAAAC, XM_011541372.4:c.2270_2271insCAAAAC, XM_011541372.3:c.2624_2625insCAAAAC, XM_011541372.2:c.2624_2625insCAAAAC, XM_011541372.1:c.2270_2271insCAAAAC, XM_017001154.3:c.2270_2271insCAAAAC, XM_017001154.2:c.2624_2625insCAAAAC, XM_017001154.1:c.2624_2625insCAAAAC, XM_017001155.3:c.2267_2268insCAAAAC, XM_017001155.2:c.2621_2622insCAAAAC, XM_017001155.1:c.2621_2622insCAAAAC, XM_017001156.3:c.2270_2271insCAAAAC, XM_017001156.2:c.2594_2595insCAAAAC, XM_017001156.1:c.2594_2595insCAAAAC, XM_017001157.3:c.2222_2223insCAAAAC, XM_017001157.2:c.2576_2577insCAAAAC, XM_017001157.1:c.2576_2577insCAAAAC, XM_017001162.3:c.2270_2271insCAAAAC, XM_017001162.2:c.2270_2271insCAAAAC, XM_017001162.1:c.2270_2271insCAAAAC, XM_017001164.3:c.2270_2271insCAAAAC, XM_017001164.2:c.2270_2271insCAAAAC, XM_017001164.1:c.2270_2271insCAAAAC, XM_017001159.3:c.2138_2139insCAAAAC, XM_017001159.2:c.2492_2493insCAAAAC, XM_017001159.1:c.2492_2493insCAAAAC, XM_017001160.3:c.2270_2271insCAAAAC, XM_017001160.2:c.2624_2625insCAAAAC, XM_017001160.1:c.2624_2625insCAAAAC, XM_017001167.3:c.1967_1968insCAAAAC, XM_017001167.2:c.1967_1968insCAAAAC, XM_017001167.1:c.1967_1968insCAAAAC, XM_017001161.3:c.2270_2271insCAAAAC, XM_017001161.2:c.2624_2625insCAAAAC, XM_017001161.1:c.2624_2625insCAAAAC, XM_017001171.3:c.254_255insCAAAAC, XM_017001171.2:c.254_255insCAAAAC, XM_017001171.1:c.254_255insCAAAAC, XM_017001169.3:c.2270_2271insCAAAAC, XM_017001169.2:c.2624_2625insCAAAAC, XM_017001169.1:c.2624_2625insCAAAAC, XM_047419520.1:c.2222_2223insCAAAAC, XM_047419444.1:c.2267_2268insCAAAAC, XM_047419449.1:c.2219_2220insCAAAAC, XM_047419459.1:c.2222_2223insCAAAAC, XM_047419468.1:c.2219_2220insCAAAAC, XM_047419476.1:c.2135_2136insCAAAAC, XM_047419482.1:c.2267_2268insCAAAAC, XM_047419488.1:c.2138_2139insCAAAAC, XM_047419490.1:c.2135_2136insCAAAAC, XM_047419493.1:c.2090_2091insCAAAAC, XM_047419508.1:c.2003_2004insCAAAAC, XM_047419512.1:c.2000_2001insCAAAAC, XM_047419525.1:c.1871_1872insCAAAAC, XM_047419527.1:c.1823_1824insCAAAAC, XM_047419528.1:c.1307_1308insCAAAAC, NM_001306076.1:c.2267_2268insCAAAAC, NM_001378204.1:c.2270_2271insCAAAAC, XM_047419483.1:c.2267_2268insCAAAAC, XM_047419492.1:c.2219_2220insCAAAAC, XM_047419507.1:c.2267_2268insCAAAAC, XM_047419510.1:c.2270_2271insCAAAAC, XM_047419513.1:c.2267_2268insCAAAAC, XM_047419514.1:c.2135_2136insCAAAAC, XM_047419516.1:c.2270_2271insCAAAAC, XM_047419526.1:c.2270_2271insCAAAAC, XP_011539663.3:p.Gln757delinsHisLysThr, NP_996769.3:p.Gln757delinsHisLysThr, XP_011539674.3:p.Gln757delinsHisLysThr, XP_016856643.2:p.Gln757delinsHisLysThr, XP_016856644.2:p.Gln756delinsHisLysThr, XP_016856645.2:p.Gln757delinsHisLysThr, XP_016856646.2:p.Gln741delinsHisLysThr, XP_016856651.1:p.Gln757delinsHisLysThr, XP_016856653.1:p.Gln757delinsHisLysThr, XP_016856648.2:p.Gln713delinsHisLysThr, XP_016856649.2:p.Gln757delinsHisLysThr, XP_016856656.1:p.Gln656delinsHisLysThr, XP_016856650.2:p.Gln757delinsHisLysThr, XP_016856660.1:p.Gln85delinsHisLysThr, XP_016856658.2:p.Gln757delinsHisLysThr, XP_047275476.1:p.Gln741delinsHisLysThr, XP_047275400.1:p.Gln756delinsHisLysThr, XP_047275405.1:p.Gln740delinsHisLysThr, XP_047275415.1:p.Gln741delinsHisLysThr, XP_047275424.1:p.Gln740delinsHisLysThr, XP_047275432.1:p.Gln712delinsHisLysThr, XP_047275438.1:p.Gln756delinsHisLysThr, XP_047275444.1:p.Gln713delinsHisLysThr, XP_047275446.1:p.Gln712delinsHisLysThr, XP_047275449.1:p.Gln697delinsHisLysThr, XP_047275464.1:p.Gln668delinsHisLysThr, XP_047275468.1:p.Gln667delinsHisLysThr, XP_047275481.1:p.Gln624delinsHisLysThr, XP_047275483.1:p.Gln608delinsHisLysThr, XP_047275484.1:p.Gln436delinsHisLysThr, NP_001293005.1:p.Gln756delinsHisLysThr, NP_001365133.1:p.Gln757delinsHisLysThr, XP_047275439.1:p.Gln756delinsHisLysThr, XP_047275448.1:p.Gln740delinsHisLysThr, XP_047275463.1:p.Gln756delinsHisLysThr, XP_047275466.1:p.Gln757delinsHisLysThr, XP_047275469.1:p.Gln756delinsHisLysThr, XP_047275470.1:p.Gln712delinsHisLysThr, XP_047275472.1:p.Gln757delinsHisLysThr, XP_047275482.1:p.Gln757delinsHisLysThr

                            14.

                            rs1482920081 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              1:93214821 (GRCh38)
                              1:93680378 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:93214820:T:G
                              Gene:
                              CCDC18 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.93214821T>G, NC_000001.10:g.93680378T>G, XM_011541361.4:c.1574T>G, XM_011541361.3:c.1928T>G, XM_011541361.2:c.1928T>G, XM_011541361.1:c.1574T>G, NM_206886.4:c.1574T>G, NM_206886.3:c.1574T>G, XM_011541372.4:c.1574T>G, XM_011541372.3:c.1928T>G, XM_011541372.2:c.1928T>G, XM_011541372.1:c.1574T>G, XM_017001154.3:c.1574T>G, XM_017001154.2:c.1928T>G, XM_017001154.1:c.1928T>G, XM_017001155.3:c.1571T>G, XM_017001155.2:c.1925T>G, XM_017001155.1:c.1925T>G, XM_017001156.3:c.1574T>G, XM_017001156.2:c.1898T>G, XM_017001156.1:c.1898T>G, XM_017001157.3:c.1526T>G, XM_017001157.2:c.1880T>G, XM_017001157.1:c.1880T>G, XM_017001162.3:c.1574T>G, XM_017001162.2:c.1574T>G, XM_017001162.1:c.1574T>G, XM_017001164.3:c.1574T>G, XM_017001164.2:c.1574T>G, XM_017001164.1:c.1574T>G, XM_017001159.3:c.1574T>G, XM_017001159.2:c.1928T>G, XM_017001159.1:c.1928T>G, XM_017001160.3:c.1574T>G, XM_017001160.2:c.1928T>G, XM_017001160.1:c.1928T>G, XM_017001167.3:c.1271T>G, XM_017001167.2:c.1271T>G, XM_017001167.1:c.1271T>G, XM_017001161.3:c.1574T>G, XM_017001161.2:c.1928T>G, XM_017001161.1:c.1928T>G, XM_017001169.3:c.1574T>G, XM_017001169.2:c.1928T>G, XM_017001169.1:c.1928T>G, XM_047419520.1:c.1526T>G, XM_047419444.1:c.1571T>G, XM_047419449.1:c.1523T>G, XM_047419459.1:c.1526T>G, XM_047419468.1:c.1523T>G, XM_047419476.1:c.1571T>G, XM_047419482.1:c.1571T>G, XM_047419488.1:c.1574T>G, XM_047419490.1:c.1571T>G, XM_047419493.1:c.1526T>G, XM_047419508.1:c.1307T>G, XM_047419512.1:c.1304T>G, XM_047419525.1:c.1307T>G, XM_047419527.1:c.1259T>G, XM_047419528.1:c.611T>G, NM_001306076.1:c.1571T>G, NM_001378204.1:c.1574T>G, XM_047419483.1:c.1571T>G, XM_047419492.1:c.1523T>G, XM_047419507.1:c.1571T>G, XM_047419510.1:c.1574T>G, XM_047419513.1:c.1571T>G, XM_047419514.1:c.1571T>G, XM_047419516.1:c.1574T>G, XM_047419526.1:c.1574T>G, XM_047419539.1:c.1574T>G, XP_011539663.3:p.Ile525Arg, NP_996769.3:p.Ile525Arg, XP_011539674.3:p.Ile525Arg, XP_016856643.2:p.Ile525Arg, XP_016856644.2:p.Ile524Arg, XP_016856645.2:p.Ile525Arg, XP_016856646.2:p.Ile509Arg, XP_016856651.1:p.Ile525Arg, XP_016856653.1:p.Ile525Arg, XP_016856648.2:p.Ile525Arg, XP_016856649.2:p.Ile525Arg, XP_016856656.1:p.Ile424Arg, XP_016856650.2:p.Ile525Arg, XP_016856658.2:p.Ile525Arg, XP_047275476.1:p.Ile509Arg, XP_047275400.1:p.Ile524Arg, XP_047275405.1:p.Ile508Arg, XP_047275415.1:p.Ile509Arg, XP_047275424.1:p.Ile508Arg, XP_047275432.1:p.Ile524Arg, XP_047275438.1:p.Ile524Arg, XP_047275444.1:p.Ile525Arg, XP_047275446.1:p.Ile524Arg, XP_047275449.1:p.Ile509Arg, XP_047275464.1:p.Ile436Arg, XP_047275468.1:p.Ile435Arg, XP_047275481.1:p.Ile436Arg, XP_047275483.1:p.Ile420Arg, XP_047275484.1:p.Ile204Arg, NP_001293005.1:p.Ile524Arg, NP_001365133.1:p.Ile525Arg, XP_047275439.1:p.Ile524Arg, XP_047275448.1:p.Ile508Arg, XP_047275463.1:p.Ile524Arg, XP_047275466.1:p.Ile525Arg, XP_047275469.1:p.Ile524Arg, XP_047275470.1:p.Ile524Arg, XP_047275472.1:p.Ile525Arg, XP_047275482.1:p.Ile525Arg, XP_047275495.1:p.Ile525Arg

                              15.

                              rs1482243967 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                1:93270592 (GRCh38)
                                1:93736149 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:93270591:C:G,NC_000001.11:93270591:C:T
                                Gene:
                                CCDC18 (Varview)
                                Functional Consequence:
                                missense_variant,synonymous_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000066/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                G=0.000223/1 (Estonian)
                                HGVS:
                                NC_000001.11:g.93270592C>G, NC_000001.11:g.93270592C>T, NC_000001.10:g.93736149C>G, NC_000001.10:g.93736149C>T, XM_011541361.4:c.4131C>G, XM_011541361.4:c.4131C>T, XM_011541361.3:c.4485C>G, XM_011541361.3:c.4485C>T, XM_011541361.2:c.4485C>G, XM_011541361.2:c.4485C>T, XM_011541361.1:c.4131C>G, XM_011541361.1:c.4131C>T, XM_017001154.3:c.4131C>G, XM_017001154.3:c.4131C>T, XM_017001154.2:c.4485C>G, XM_017001154.2:c.4485C>T, XM_017001154.1:c.4485C>G, XM_017001154.1:c.4485C>T, XM_017001155.3:c.4128C>G, XM_017001155.3:c.4128C>T, XM_017001155.2:c.4482C>G, XM_017001155.2:c.4482C>T, XM_017001155.1:c.4482C>G, XM_017001155.1:c.4482C>T, XM_017001156.3:c.4131C>G, XM_017001156.3:c.4131C>T, XM_017001156.2:c.4455C>G, XM_017001156.2:c.4455C>T, XM_017001156.1:c.4455C>G, XM_017001156.1:c.4455C>T, XM_017001157.3:c.4083C>G, XM_017001157.3:c.4083C>T, XM_017001157.2:c.4437C>G, XM_017001157.2:c.4437C>T, XM_017001157.1:c.4437C>G, XM_017001157.1:c.4437C>T, XM_017001162.3:c.4131C>G, XM_017001162.3:c.4131C>T, XM_017001162.2:c.4131C>G, XM_017001162.2:c.4131C>T, XM_017001162.1:c.4131C>G, XM_017001162.1:c.4131C>T, XM_017001164.3:c.4131C>G, XM_017001164.3:c.4131C>T, XM_017001164.2:c.4131C>G, XM_017001164.2:c.4131C>T, XM_017001164.1:c.4131C>G, XM_017001164.1:c.4131C>T, XM_017001159.3:c.3999C>G, XM_017001159.3:c.3999C>T, XM_017001159.2:c.4353C>G, XM_017001159.2:c.4353C>T, XM_017001159.1:c.4353C>G, XM_017001159.1:c.4353C>T, XM_017001160.3:c.3987C>G, XM_017001160.3:c.3987C>T, XM_017001160.2:c.4341C>G, XM_017001160.2:c.4341C>T, XM_017001160.1:c.4341C>G, XM_017001160.1:c.4341C>T, XM_017001167.3:c.3828C>G, XM_017001167.3:c.3828C>T, XM_017001167.2:c.3828C>G, XM_017001167.2:c.3828C>T, XM_017001167.1:c.3828C>G, XM_017001167.1:c.3828C>T, XM_017001161.3:c.3987C>G, XM_017001161.3:c.3987C>T, XM_017001161.2:c.4341C>G, XM_017001161.2:c.4341C>T, XM_017001161.1:c.4341C>G, XM_017001161.1:c.4341C>T, XM_017001171.3:c.2115C>G, XM_017001171.3:c.2115C>T, XM_017001171.2:c.2115C>G, XM_017001171.2:c.2115C>T, XM_017001171.1:c.2115C>G, XM_017001171.1:c.2115C>T, XM_047419520.1:c.*5637C>G, XM_047419520.1:c.*5637C>T, XM_047419444.1:c.4128C>G, XM_047419444.1:c.4128C>T, XM_047419449.1:c.4080C>G, XM_047419449.1:c.4080C>T, XM_047419459.1:c.4083C>G, XM_047419459.1:c.4083C>T, XM_047419468.1:c.4080C>G, XM_047419468.1:c.4080C>T, XM_047419476.1:c.3996C>G, XM_047419476.1:c.3996C>T, XM_047419482.1:c.3984C>G, XM_047419482.1:c.3984C>T, XM_047419488.1:c.3999C>G, XM_047419488.1:c.3999C>T, XM_047419490.1:c.3996C>G, XM_047419490.1:c.3996C>T, XM_047419493.1:c.3951C>G, XM_047419493.1:c.3951C>T, XM_047419508.1:c.3864C>G, XM_047419508.1:c.3864C>T, XM_047419512.1:c.3861C>G, XM_047419512.1:c.3861C>T, XM_047419525.1:c.3732C>G, XM_047419525.1:c.3732C>T, XM_047419527.1:c.3684C>G, XM_047419527.1:c.3684C>T, XM_047419528.1:c.3168C>G, XM_047419528.1:c.3168C>T, NM_001306076.1:c.4128C>G, NM_001306076.1:c.4128C>T, NM_001378204.1:c.4131C>G, NM_001378204.1:c.4131C>T, XM_047419483.1:c.4128C>G, XM_047419483.1:c.4128C>T, XM_047419492.1:c.4080C>G, XM_047419492.1:c.4080C>T, XP_011539663.3:p.Asp1377Glu, XP_016856643.2:p.Asp1377Glu, XP_016856644.2:p.Asp1376Glu, XP_016856645.2:p.Asp1377Glu, XP_016856646.2:p.Asp1361Glu, XP_016856651.1:p.Asp1377Glu, XP_016856653.1:p.Asp1377Glu, XP_016856648.2:p.Asp1333Glu, XP_016856649.2:p.Asp1329Glu, XP_016856656.1:p.Asp1276Glu, XP_016856650.2:p.Asp1329Glu, XP_016856660.1:p.Asp705Glu, XP_047275400.1:p.Asp1376Glu, XP_047275405.1:p.Asp1360Glu, XP_047275415.1:p.Asp1361Glu, XP_047275424.1:p.Asp1360Glu, XP_047275432.1:p.Asp1332Glu, XP_047275438.1:p.Asp1328Glu, XP_047275444.1:p.Asp1333Glu, XP_047275446.1:p.Asp1332Glu, XP_047275449.1:p.Asp1317Glu, XP_047275464.1:p.Asp1288Glu, XP_047275468.1:p.Asp1287Glu, XP_047275481.1:p.Asp1244Glu, XP_047275483.1:p.Asp1228Glu, XP_047275484.1:p.Asp1056Glu, NP_001293005.1:p.Asp1376Glu, NP_001365133.1:p.Asp1377Glu, XP_047275439.1:p.Asp1376Glu, XP_047275448.1:p.Asp1360Glu

                                16.

                                rs1482064469 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:93207259 (GRCh38)
                                  1:93672816 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:93207258:A:G
                                  Gene:
                                  CCDC18 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.93207259A>G, NC_000001.10:g.93672816A>G, XM_011541361.4:c.1070A>G, XM_011541361.3:c.1424A>G, XM_011541361.2:c.1424A>G, XM_011541361.1:c.1070A>G, NM_206886.4:c.1070A>G, NM_206886.3:c.1070A>G, XM_011541372.4:c.1070A>G, XM_011541372.3:c.1424A>G, XM_011541372.2:c.1424A>G, XM_011541372.1:c.1070A>G, XM_017001154.3:c.1070A>G, XM_017001154.2:c.1424A>G, XM_017001154.1:c.1424A>G, XM_017001155.3:c.1070A>G, XM_017001155.2:c.1424A>G, XM_017001155.1:c.1424A>G, XM_017001156.3:c.1070A>G, XM_017001156.2:c.1394A>G, XM_017001156.1:c.1394A>G, XM_017001157.3:c.1070A>G, XM_017001157.2:c.1424A>G, XM_017001157.1:c.1424A>G, XM_017001162.3:c.1070A>G, XM_017001162.2:c.1070A>G, XM_017001162.1:c.1070A>G, XM_017001164.3:c.1070A>G, XM_017001164.2:c.1070A>G, XM_017001164.1:c.1070A>G, XM_017001159.3:c.1070A>G, XM_017001159.2:c.1424A>G, XM_017001159.1:c.1424A>G, XM_017001160.3:c.1070A>G, XM_017001160.2:c.1424A>G, XM_017001160.1:c.1424A>G, XM_017001167.3:c.767A>G, XM_017001167.2:c.767A>G, XM_017001167.1:c.767A>G, XM_017001161.3:c.1070A>G, XM_017001161.2:c.1424A>G, XM_017001161.1:c.1424A>G, XM_017001169.3:c.1070A>G, XM_017001169.2:c.1424A>G, XM_017001169.1:c.1424A>G, XM_047419520.1:c.1070A>G, XM_047419444.1:c.1070A>G, XM_047419449.1:c.1070A>G, XM_047419459.1:c.1070A>G, XM_047419468.1:c.1070A>G, XM_047419476.1:c.1070A>G, XM_047419482.1:c.1070A>G, XM_047419488.1:c.1070A>G, XM_047419490.1:c.1070A>G, XM_047419493.1:c.1070A>G, XM_047419508.1:c.803A>G, XM_047419512.1:c.803A>G, XM_047419525.1:c.803A>G, XM_047419527.1:c.803A>G, XM_047419528.1:c.107A>G, NM_001306076.1:c.1070A>G, NM_001378204.1:c.1070A>G, XM_047419483.1:c.1070A>G, XM_047419492.1:c.1070A>G, XM_047419507.1:c.1070A>G, XM_047419510.1:c.1070A>G, XM_047419513.1:c.1070A>G, XM_047419514.1:c.1070A>G, XM_047419516.1:c.1070A>G, XM_047419526.1:c.1070A>G, XM_047419539.1:c.1070A>G, XP_011539663.3:p.Lys357Arg, NP_996769.3:p.Lys357Arg, XP_011539674.3:p.Lys357Arg, XP_016856643.2:p.Lys357Arg, XP_016856644.2:p.Lys357Arg, XP_016856645.2:p.Lys357Arg, XP_016856646.2:p.Lys357Arg, XP_016856651.1:p.Lys357Arg, XP_016856653.1:p.Lys357Arg, XP_016856648.2:p.Lys357Arg, XP_016856649.2:p.Lys357Arg, XP_016856656.1:p.Lys256Arg, XP_016856650.2:p.Lys357Arg, XP_016856658.2:p.Lys357Arg, XP_047275476.1:p.Lys357Arg, XP_047275400.1:p.Lys357Arg, XP_047275405.1:p.Lys357Arg, XP_047275415.1:p.Lys357Arg, XP_047275424.1:p.Lys357Arg, XP_047275432.1:p.Lys357Arg, XP_047275438.1:p.Lys357Arg, XP_047275444.1:p.Lys357Arg, XP_047275446.1:p.Lys357Arg, XP_047275449.1:p.Lys357Arg, XP_047275464.1:p.Lys268Arg, XP_047275468.1:p.Lys268Arg, XP_047275481.1:p.Lys268Arg, XP_047275483.1:p.Lys268Arg, XP_047275484.1:p.Lys36Arg, NP_001293005.1:p.Lys357Arg, NP_001365133.1:p.Lys357Arg, XP_047275439.1:p.Lys357Arg, XP_047275448.1:p.Lys357Arg, XP_047275463.1:p.Lys357Arg, XP_047275466.1:p.Lys357Arg, XP_047275469.1:p.Lys357Arg, XP_047275470.1:p.Lys357Arg, XP_047275472.1:p.Lys357Arg, XP_047275482.1:p.Lys357Arg, XP_047275495.1:p.Lys357Arg

                                  17.

                                  rs1482012217 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:93214902 (GRCh38)
                                    1:93680459 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:93214901:A:G
                                    Gene:
                                    CCDC18 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000047/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.93214902A>G, NC_000001.10:g.93680459A>G, XM_011541361.4:c.1655A>G, XM_011541361.3:c.2009A>G, XM_011541361.2:c.2009A>G, XM_011541361.1:c.1655A>G, NM_206886.4:c.1655A>G, NM_206886.3:c.1655A>G, XM_011541372.4:c.1655A>G, XM_011541372.3:c.2009A>G, XM_011541372.2:c.2009A>G, XM_011541372.1:c.1655A>G, XM_017001154.3:c.1655A>G, XM_017001154.2:c.2009A>G, XM_017001154.1:c.2009A>G, XM_017001155.3:c.1652A>G, XM_017001155.2:c.2006A>G, XM_017001155.1:c.2006A>G, XM_017001156.3:c.1655A>G, XM_017001156.2:c.1979A>G, XM_017001156.1:c.1979A>G, XM_017001157.3:c.1607A>G, XM_017001157.2:c.1961A>G, XM_017001157.1:c.1961A>G, XM_017001162.3:c.1655A>G, XM_017001162.2:c.1655A>G, XM_017001162.1:c.1655A>G, XM_017001164.3:c.1655A>G, XM_017001164.2:c.1655A>G, XM_017001164.1:c.1655A>G, XM_017001159.3:c.1655A>G, XM_017001159.2:c.2009A>G, XM_017001159.1:c.2009A>G, XM_017001160.3:c.1655A>G, XM_017001160.2:c.2009A>G, XM_017001160.1:c.2009A>G, XM_017001167.3:c.1352A>G, XM_017001167.2:c.1352A>G, XM_017001167.1:c.1352A>G, XM_017001161.3:c.1655A>G, XM_017001161.2:c.2009A>G, XM_017001161.1:c.2009A>G, XM_017001169.3:c.1655A>G, XM_017001169.2:c.2009A>G, XM_017001169.1:c.2009A>G, XM_047419520.1:c.1607A>G, XM_047419444.1:c.1652A>G, XM_047419449.1:c.1604A>G, XM_047419459.1:c.1607A>G, XM_047419468.1:c.1604A>G, XM_047419476.1:c.1652A>G, XM_047419482.1:c.1652A>G, XM_047419488.1:c.1655A>G, XM_047419490.1:c.1652A>G, XM_047419493.1:c.1607A>G, XM_047419508.1:c.1388A>G, XM_047419512.1:c.1385A>G, XM_047419525.1:c.1388A>G, XM_047419527.1:c.1340A>G, XM_047419528.1:c.692A>G, NM_001306076.1:c.1652A>G, NM_001378204.1:c.1655A>G, XM_047419483.1:c.1652A>G, XM_047419492.1:c.1604A>G, XM_047419507.1:c.1652A>G, XM_047419510.1:c.1655A>G, XM_047419513.1:c.1652A>G, XM_047419514.1:c.1652A>G, XM_047419516.1:c.1655A>G, XM_047419526.1:c.1655A>G, XM_047419539.1:c.1655A>G, XP_011539663.3:p.Gln552Arg, NP_996769.3:p.Gln552Arg, XP_011539674.3:p.Gln552Arg, XP_016856643.2:p.Gln552Arg, XP_016856644.2:p.Gln551Arg, XP_016856645.2:p.Gln552Arg, XP_016856646.2:p.Gln536Arg, XP_016856651.1:p.Gln552Arg, XP_016856653.1:p.Gln552Arg, XP_016856648.2:p.Gln552Arg, XP_016856649.2:p.Gln552Arg, XP_016856656.1:p.Gln451Arg, XP_016856650.2:p.Gln552Arg, XP_016856658.2:p.Gln552Arg, XP_047275476.1:p.Gln536Arg, XP_047275400.1:p.Gln551Arg, XP_047275405.1:p.Gln535Arg, XP_047275415.1:p.Gln536Arg, XP_047275424.1:p.Gln535Arg, XP_047275432.1:p.Gln551Arg, XP_047275438.1:p.Gln551Arg, XP_047275444.1:p.Gln552Arg, XP_047275446.1:p.Gln551Arg, XP_047275449.1:p.Gln536Arg, XP_047275464.1:p.Gln463Arg, XP_047275468.1:p.Gln462Arg, XP_047275481.1:p.Gln463Arg, XP_047275483.1:p.Gln447Arg, XP_047275484.1:p.Gln231Arg, NP_001293005.1:p.Gln551Arg, NP_001365133.1:p.Gln552Arg, XP_047275439.1:p.Gln551Arg, XP_047275448.1:p.Gln535Arg, XP_047275463.1:p.Gln551Arg, XP_047275466.1:p.Gln552Arg, XP_047275469.1:p.Gln551Arg, XP_047275470.1:p.Gln551Arg, XP_047275472.1:p.Gln552Arg, XP_047275482.1:p.Gln552Arg, XP_047275495.1:p.Gln552Arg

                                    18.

                                    rs1479914916 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CAA>- [Show Flanks]
                                      Chromosome:
                                      1:93239465 (GRCh38)
                                      1:93705022 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:93239462:AACAA:AA
                                      Gene:
                                      CCDC18 (Varview)
                                      Functional Consequence:
                                      inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.93239465_93239467del, NC_000001.10:g.93705022_93705024del, XM_011541361.4:c.2759_2761del, XM_011541361.3:c.3113_3115del, XM_011541361.2:c.3113_3115del, XM_011541361.1:c.2759_2761del, NM_206886.4:c.2759_2761del, NM_206886.3:c.2759_2761del, XM_017001154.3:c.2759_2761del, XM_017001154.2:c.3113_3115del, XM_017001154.1:c.3113_3115del, XM_017001155.3:c.2756_2758del, XM_017001155.2:c.3110_3112del, XM_017001155.1:c.3110_3112del, XM_017001156.3:c.2759_2761del, XM_017001156.2:c.3083_3085del, XM_017001156.1:c.3083_3085del, XM_017001157.3:c.2711_2713del, XM_017001157.2:c.3065_3067del, XM_017001157.1:c.3065_3067del, XM_017001162.3:c.2759_2761del, XM_017001162.2:c.2759_2761del, XM_017001162.1:c.2759_2761del, XM_017001164.3:c.2759_2761del, XM_017001164.2:c.2759_2761del, XM_017001164.1:c.2759_2761del, XM_017001159.3:c.2627_2629del, XM_017001159.2:c.2981_2983del, XM_017001159.1:c.2981_2983del, XM_017001160.3:c.2759_2761del, XM_017001160.2:c.3113_3115del, XM_017001160.1:c.3113_3115del, XM_017001167.3:c.2456_2458del, XM_017001167.2:c.2456_2458del, XM_017001167.1:c.2456_2458del, XM_017001161.3:c.2759_2761del, XM_017001161.2:c.3113_3115del, XM_017001161.1:c.3113_3115del, XM_017001171.3:c.743_745del, XM_017001171.2:c.743_745del, XM_017001171.1:c.743_745del, XM_017001169.3:c.2759_2761del, XM_017001169.2:c.3113_3115del, XM_017001169.1:c.3113_3115del, XM_047419520.1:c.2711_2713del, XM_047419444.1:c.2756_2758del, XM_047419449.1:c.2708_2710del, XM_047419459.1:c.2711_2713del, XM_047419468.1:c.2708_2710del, XM_047419476.1:c.2624_2626del, XM_047419482.1:c.2756_2758del, XM_047419488.1:c.2627_2629del, XM_047419490.1:c.2624_2626del, XM_047419493.1:c.2579_2581del, XM_047419508.1:c.2492_2494del, XM_047419512.1:c.2489_2491del, XM_047419525.1:c.2360_2362del, XM_047419527.1:c.2312_2314del, XM_047419528.1:c.1796_1798del, NM_001306076.1:c.2756_2758del, NM_001378204.1:c.2759_2761del, XM_047419483.1:c.2756_2758del, XM_047419492.1:c.2708_2710del, XM_047419507.1:c.2756_2758del, XM_047419510.1:c.2759_2761del, XM_047419513.1:c.2756_2758del, XM_047419514.1:c.2624_2626del, XM_047419516.1:c.2759_2761del, XM_047419526.1:c.2759_2761del, XP_011539663.3:p.Thr920del, NP_996769.3:p.Thr920del, XP_016856643.2:p.Thr920del, XP_016856644.2:p.Thr919del, XP_016856645.2:p.Thr920del, XP_016856646.2:p.Thr904del, XP_016856651.1:p.Thr920del, XP_016856653.1:p.Thr920del, XP_016856648.2:p.Thr876del, XP_016856649.2:p.Thr920del, XP_016856656.1:p.Thr819del, XP_016856650.2:p.Thr920del, XP_016856660.1:p.Thr248del, XP_016856658.2:p.Thr920del, XP_047275476.1:p.Thr904del, XP_047275400.1:p.Thr919del, XP_047275405.1:p.Thr903del, XP_047275415.1:p.Thr904del, XP_047275424.1:p.Thr903del, XP_047275432.1:p.Thr875del, XP_047275438.1:p.Thr919del, XP_047275444.1:p.Thr876del, XP_047275446.1:p.Thr875del, XP_047275449.1:p.Thr860del, XP_047275464.1:p.Thr831del, XP_047275468.1:p.Thr830del, XP_047275481.1:p.Thr787del, XP_047275483.1:p.Thr771del, XP_047275484.1:p.Thr599del, NP_001293005.1:p.Thr919del, NP_001365133.1:p.Thr920del, XP_047275439.1:p.Thr919del, XP_047275448.1:p.Thr903del, XP_047275463.1:p.Thr919del, XP_047275466.1:p.Thr920del, XP_047275469.1:p.Thr919del, XP_047275470.1:p.Thr875del, XP_047275472.1:p.Thr920del, XP_047275482.1:p.Thr920del

                                      19.

                                      rs1479445007 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        1:93236357 (GRCh38)
                                        1:93701914 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:93236356:G:T
                                        Gene:
                                        CCDC18 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        HGVS:
                                        NC_000001.11:g.93236357G>T, NC_000001.10:g.93701914G>T, XM_011541361.4:c.2570G>T, XM_011541361.3:c.2924G>T, XM_011541361.2:c.2924G>T, XM_011541361.1:c.2570G>T, NM_206886.4:c.2570G>T, NM_206886.3:c.2570G>T, XM_011541372.4:c.2570G>T, XM_011541372.3:c.2924G>T, XM_011541372.2:c.2924G>T, XM_011541372.1:c.2570G>T, XM_017001154.3:c.2570G>T, XM_017001154.2:c.2924G>T, XM_017001154.1:c.2924G>T, XM_017001155.3:c.2567G>T, XM_017001155.2:c.2921G>T, XM_017001155.1:c.2921G>T, XM_017001156.3:c.2570G>T, XM_017001156.2:c.2894G>T, XM_017001156.1:c.2894G>T, XM_017001157.3:c.2522G>T, XM_017001157.2:c.2876G>T, XM_017001157.1:c.2876G>T, XM_017001162.3:c.2570G>T, XM_017001162.2:c.2570G>T, XM_017001162.1:c.2570G>T, XM_017001164.3:c.2570G>T, XM_017001164.2:c.2570G>T, XM_017001164.1:c.2570G>T, XM_017001159.3:c.2438G>T, XM_017001159.2:c.2792G>T, XM_017001159.1:c.2792G>T, XM_017001160.3:c.2570G>T, XM_017001160.2:c.2924G>T, XM_017001160.1:c.2924G>T, XM_017001167.3:c.2267G>T, XM_017001167.2:c.2267G>T, XM_017001167.1:c.2267G>T, XM_017001161.3:c.2570G>T, XM_017001161.2:c.2924G>T, XM_017001161.1:c.2924G>T, XM_017001171.3:c.554G>T, XM_017001171.2:c.554G>T, XM_017001171.1:c.554G>T, XM_017001169.3:c.2570G>T, XM_017001169.2:c.2924G>T, XM_017001169.1:c.2924G>T, XM_047419520.1:c.2522G>T, XM_047419444.1:c.2567G>T, XM_047419449.1:c.2519G>T, XM_047419459.1:c.2522G>T, XM_047419468.1:c.2519G>T, XM_047419476.1:c.2435G>T, XM_047419482.1:c.2567G>T, XM_047419488.1:c.2438G>T, XM_047419490.1:c.2435G>T, XM_047419493.1:c.2390G>T, XM_047419508.1:c.2303G>T, XM_047419512.1:c.2300G>T, XM_047419525.1:c.2171G>T, XM_047419527.1:c.2123G>T, XM_047419528.1:c.1607G>T, NM_001306076.1:c.2567G>T, NM_001378204.1:c.2570G>T, XM_047419483.1:c.2567G>T, XM_047419492.1:c.2519G>T, XM_047419507.1:c.2567G>T, XM_047419510.1:c.2570G>T, XM_047419513.1:c.2567G>T, XM_047419514.1:c.2435G>T, XM_047419516.1:c.2570G>T, XM_047419526.1:c.2570G>T, XP_011539663.3:p.Arg857Met, NP_996769.3:p.Arg857Met, XP_011539674.3:p.Arg857Met, XP_016856643.2:p.Arg857Met, XP_016856644.2:p.Arg856Met, XP_016856645.2:p.Arg857Met, XP_016856646.2:p.Arg841Met, XP_016856651.1:p.Arg857Met, XP_016856653.1:p.Arg857Met, XP_016856648.2:p.Arg813Met, XP_016856649.2:p.Arg857Met, XP_016856656.1:p.Arg756Met, XP_016856650.2:p.Arg857Met, XP_016856660.1:p.Arg185Met, XP_016856658.2:p.Arg857Met, XP_047275476.1:p.Arg841Met, XP_047275400.1:p.Arg856Met, XP_047275405.1:p.Arg840Met, XP_047275415.1:p.Arg841Met, XP_047275424.1:p.Arg840Met, XP_047275432.1:p.Arg812Met, XP_047275438.1:p.Arg856Met, XP_047275444.1:p.Arg813Met, XP_047275446.1:p.Arg812Met, XP_047275449.1:p.Arg797Met, XP_047275464.1:p.Arg768Met, XP_047275468.1:p.Arg767Met, XP_047275481.1:p.Arg724Met, XP_047275483.1:p.Arg708Met, XP_047275484.1:p.Arg536Met, NP_001293005.1:p.Arg856Met, NP_001365133.1:p.Arg857Met, XP_047275439.1:p.Arg856Met, XP_047275448.1:p.Arg840Met, XP_047275463.1:p.Arg856Met, XP_047275466.1:p.Arg857Met, XP_047275469.1:p.Arg856Met, XP_047275470.1:p.Arg812Met, XP_047275472.1:p.Arg857Met, XP_047275482.1:p.Arg857Met

                                        20.

                                        rs1479412053 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:93207277 (GRCh38)
                                          1:93672834 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:93207276:A:G
                                          Gene:
                                          CCDC18 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.93207277A>G, NC_000001.10:g.93672834A>G, XM_011541361.4:c.1088A>G, XM_011541361.3:c.1442A>G, XM_011541361.2:c.1442A>G, XM_011541361.1:c.1088A>G, NM_206886.4:c.1088A>G, NM_206886.3:c.1088A>G, XM_011541372.4:c.1088A>G, XM_011541372.3:c.1442A>G, XM_011541372.2:c.1442A>G, XM_011541372.1:c.1088A>G, XM_017001154.3:c.1088A>G, XM_017001154.2:c.1442A>G, XM_017001154.1:c.1442A>G, XM_017001155.3:c.1088A>G, XM_017001155.2:c.1442A>G, XM_017001155.1:c.1442A>G, XM_017001156.3:c.1088A>G, XM_017001156.2:c.1412A>G, XM_017001156.1:c.1412A>G, XM_017001157.3:c.1088A>G, XM_017001157.2:c.1442A>G, XM_017001157.1:c.1442A>G, XM_017001162.3:c.1088A>G, XM_017001162.2:c.1088A>G, XM_017001162.1:c.1088A>G, XM_017001164.3:c.1088A>G, XM_017001164.2:c.1088A>G, XM_017001164.1:c.1088A>G, XM_017001159.3:c.1088A>G, XM_017001159.2:c.1442A>G, XM_017001159.1:c.1442A>G, XM_017001160.3:c.1088A>G, XM_017001160.2:c.1442A>G, XM_017001160.1:c.1442A>G, XM_017001167.3:c.785A>G, XM_017001167.2:c.785A>G, XM_017001167.1:c.785A>G, XM_017001161.3:c.1088A>G, XM_017001161.2:c.1442A>G, XM_017001161.1:c.1442A>G, XM_017001169.3:c.1088A>G, XM_017001169.2:c.1442A>G, XM_017001169.1:c.1442A>G, XM_047419520.1:c.1088A>G, XM_047419444.1:c.1088A>G, XM_047419449.1:c.1088A>G, XM_047419459.1:c.1088A>G, XM_047419468.1:c.1088A>G, XM_047419476.1:c.1088A>G, XM_047419482.1:c.1088A>G, XM_047419488.1:c.1088A>G, XM_047419490.1:c.1088A>G, XM_047419493.1:c.1088A>G, XM_047419508.1:c.821A>G, XM_047419512.1:c.821A>G, XM_047419525.1:c.821A>G, XM_047419527.1:c.821A>G, XM_047419528.1:c.125A>G, NM_001306076.1:c.1088A>G, NM_001378204.1:c.1088A>G, XM_047419483.1:c.1088A>G, XM_047419492.1:c.1088A>G, XM_047419507.1:c.1088A>G, XM_047419510.1:c.1088A>G, XM_047419513.1:c.1088A>G, XM_047419514.1:c.1088A>G, XM_047419516.1:c.1088A>G, XM_047419526.1:c.1088A>G, XM_047419539.1:c.1088A>G, XP_011539663.3:p.Glu363Gly, NP_996769.3:p.Glu363Gly, XP_011539674.3:p.Glu363Gly, XP_016856643.2:p.Glu363Gly, XP_016856644.2:p.Glu363Gly, XP_016856645.2:p.Glu363Gly, XP_016856646.2:p.Glu363Gly, XP_016856651.1:p.Glu363Gly, XP_016856653.1:p.Glu363Gly, XP_016856648.2:p.Glu363Gly, XP_016856649.2:p.Glu363Gly, XP_016856656.1:p.Glu262Gly, XP_016856650.2:p.Glu363Gly, XP_016856658.2:p.Glu363Gly, XP_047275476.1:p.Glu363Gly, XP_047275400.1:p.Glu363Gly, XP_047275405.1:p.Glu363Gly, XP_047275415.1:p.Glu363Gly, XP_047275424.1:p.Glu363Gly, XP_047275432.1:p.Glu363Gly, XP_047275438.1:p.Glu363Gly, XP_047275444.1:p.Glu363Gly, XP_047275446.1:p.Glu363Gly, XP_047275449.1:p.Glu363Gly, XP_047275464.1:p.Glu274Gly, XP_047275468.1:p.Glu274Gly, XP_047275481.1:p.Glu274Gly, XP_047275483.1:p.Glu274Gly, XP_047275484.1:p.Glu42Gly, NP_001293005.1:p.Glu363Gly, NP_001365133.1:p.Glu363Gly, XP_047275439.1:p.Glu363Gly, XP_047275448.1:p.Glu363Gly, XP_047275463.1:p.Glu363Gly, XP_047275466.1:p.Glu363Gly, XP_047275469.1:p.Glu363Gly, XP_047275470.1:p.Glu363Gly, XP_047275472.1:p.Glu363Gly, XP_047275482.1:p.Glu363Gly, XP_047275495.1:p.Glu363Gly

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