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Items: 1 to 20 of 116

1.

rs1488047140 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    11:125097614 (GRCh38)
    11:124967510 (GRCh37)
    Canonical SPDI:
    NC_000011.10:125097613:A:C
    Gene:
    TMEM218 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000012/3 (GnomAD_exomes)
    C=0.000034/9 (TOPMED)
    HGVS:
    NC_000011.10:g.125097614A>C, NC_000011.9:g.124967510A>C, XM_006718780.4:c.445T>G, XM_006718780.3:c.445T>G, XM_006718780.2:c.445T>G, XM_006718780.1:c.445T>G, NM_001258243.3:c.340T>G, NM_001258243.2:c.445T>G, NM_001258243.1:c.445T>G, NM_001080546.3:c.340T>G, NM_001080546.2:c.340T>G, NM_001258242.3:c.340T>G, NM_001258242.2:c.445T>G, NM_001258242.1:c.445T>G, NM_001258246.3:c.340T>G, NM_001258246.2:c.445T>G, NM_001258246.1:c.445T>G, NM_001258239.3:c.340T>G, NM_001258239.2:c.445T>G, NM_001258239.1:c.445T>G, NM_001258245.2:c.340T>G, NM_001258245.1:c.340T>G, NM_001258240.2:c.340T>G, NM_001258240.1:c.340T>G, NM_001258241.2:c.340T>G, NM_001258241.1:c.340T>G, NR_047588.2:n.630T>G, NR_047588.1:n.712T>G, NM_001258244.2:c.340T>G, NM_001258244.1:c.340T>G, NR_047590.2:n.567T>G, NR_047590.1:n.649T>G, NM_001258247.2:c.340T>G, NM_001258247.1:c.340T>G, NM_001258238.2:c.340T>G, NM_001258238.1:c.340T>G, NR_047592.2:n.533T>G, NR_047592.1:n.615T>G, NR_047586.2:n.487T>G, NR_047586.1:n.624T>G, NR_047591.2:n.453T>G, NR_047591.1:n.535T>G, NR_047589.2:n.394T>G, NR_047589.1:n.476T>G, NR_047587.2:n.270T>G, NR_047587.1:n.407T>G, NM_001387241.1:c.340T>G, NM_001387231.1:c.340T>G, NM_001387244.1:c.340T>G, XM_047426541.1:c.445T>G, NM_001387249.1:c.418T>G, XM_047426540.1:c.445T>G, NM_001387256.1:c.*155T>G, NM_001387233.1:c.340T>G, XM_047426542.1:c.445T>G, NM_001387248.1:c.340T>G, XM_047426543.1:c.445T>G, NM_001387242.1:c.340T>G, NM_001387236.1:c.340T>G, NM_001387251.1:c.259T>G, NM_001387257.1:c.*155T>G, NM_001387232.1:c.340T>G, NM_001387237.1:c.340T>G, NR_170611.1:n.636T>G, NM_001387247.1:c.340T>G, NM_001387259.1:c.*155T>G, NM_001387243.1:c.340T>G, NM_001387230.1:c.340T>G, NR_170610.1:n.606T>G, NM_001387238.1:c.340T>G, NM_001387239.1:c.340T>G, NM_001387246.1:c.340T>G, NM_001387258.1:c.*155T>G, NM_001387255.1:c.*155T>G, NM_001387235.1:c.340T>G, NM_001387245.1:c.340T>G, NM_001387234.1:c.340T>G, NM_001387252.1:c.259T>G, NM_001387240.1:c.340T>G, NM_001387254.1:c.259T>G, NR_170602.1:n.485T>G, NR_170600.1:n.449T>G, NM_001387253.1:c.259T>G, NR_170613.1:n.444T>G, NM_001387250.1:c.259T>G, NR_170609.1:n.429T>G, NR_170604.1:n.398T>G, NR_170601.1:n.348T>G, NR_170612.1:n.347T>G, NR_170605.1:n.318T>G, NR_170608.1:n.303T>G, NR_170603.1:n.301T>G, NR_170607.1:n.272T>G, NR_170606.1:n.223T>G, XP_006718843.1:p.Ser149Ala, NP_001245172.2:p.Ser114Ala, NP_001074015.1:p.Ser114Ala, NP_001245171.2:p.Ser114Ala, NP_001245175.2:p.Ser114Ala, NP_001245168.2:p.Ser114Ala, NP_001245174.1:p.Ser114Ala, NP_001245169.1:p.Ser114Ala, NP_001245170.1:p.Ser114Ala, NP_001245173.1:p.Ser114Ala, NP_001245176.1:p.Ser114Ala, NP_001245167.1:p.Ser114Ala, NP_001374170.1:p.Ser114Ala, NP_001374160.1:p.Ser114Ala, NP_001374173.1:p.Ser114Ala, XP_047282497.1:p.Ser149Ala, NP_001374178.1:p.Ser140Ala, XP_047282496.1:p.Ser149Ala, NP_001374162.1:p.Ser114Ala, XP_047282498.1:p.Ser149Ala, NP_001374177.1:p.Ser114Ala, XP_047282499.1:p.Ser149Ala, NP_001374171.1:p.Ser114Ala, NP_001374165.1:p.Ser114Ala, NP_001374180.1:p.Ser87Ala, NP_001374161.1:p.Ser114Ala, NP_001374166.1:p.Ser114Ala, NP_001374176.1:p.Ser114Ala, NP_001374159.1:p.Ser114Ala, NP_001374167.1:p.Ser114Ala, NP_001374168.1:p.Ser114Ala, NP_001374175.1:p.Ser114Ala, NP_001374164.1:p.Ser114Ala, NP_001374174.1:p.Ser114Ala, NP_001374163.1:p.Ser114Ala, NP_001374181.1:p.Ser87Ala, NP_001374169.1:p.Ser114Ala, NP_001374183.1:p.Ser87Ala, NP_001374182.1:p.Ser87Ala, NP_001374179.1:p.Ser87Ala

    2.

    rs1481793415 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:125097735 (GRCh38)
      11:124967631 (GRCh37)
      Canonical SPDI:
      NC_000011.10:125097734:C:T
      Gene:
      TMEM218 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000014/2 (GnomAD)
      HGVS:
      NC_000011.10:g.125097735C>T, NC_000011.9:g.124967631C>T, XM_006718780.4:c.324G>A, XM_006718780.3:c.324G>A, XM_006718780.2:c.324G>A, XM_006718780.1:c.324G>A, NM_001258243.3:c.219G>A, NM_001258243.2:c.324G>A, NM_001258243.1:c.324G>A, NM_001080546.3:c.219G>A, NM_001080546.2:c.219G>A, NM_001258242.3:c.219G>A, NM_001258242.2:c.324G>A, NM_001258242.1:c.324G>A, NM_001258246.3:c.219G>A, NM_001258246.2:c.324G>A, NM_001258246.1:c.324G>A, NM_001258239.3:c.219G>A, NM_001258239.2:c.324G>A, NM_001258239.1:c.324G>A, NM_001258245.2:c.219G>A, NM_001258245.1:c.219G>A, NM_001258240.2:c.219G>A, NM_001258240.1:c.219G>A, NM_001258241.2:c.219G>A, NM_001258241.1:c.219G>A, NR_047588.2:n.509G>A, NR_047588.1:n.591G>A, NM_001258244.2:c.219G>A, NM_001258244.1:c.219G>A, NR_047590.2:n.446G>A, NR_047590.1:n.528G>A, NM_001258247.2:c.219G>A, NM_001258247.1:c.219G>A, NM_001258238.2:c.219G>A, NM_001258238.1:c.219G>A, NR_047592.2:n.412G>A, NR_047592.1:n.494G>A, NR_047586.2:n.366G>A, NR_047586.1:n.503G>A, NR_047591.2:n.332G>A, NR_047591.1:n.414G>A, NR_047589.2:n.273G>A, NR_047589.1:n.355G>A, NR_047587.2:n.149G>A, NR_047587.1:n.286G>A, NM_001387241.1:c.219G>A, NM_001387231.1:c.219G>A, NM_001387244.1:c.219G>A, XM_047426541.1:c.324G>A, NM_001387249.1:c.297G>A, XM_047426540.1:c.324G>A, NM_001387256.1:c.*34G>A, NM_001387233.1:c.219G>A, XM_047426542.1:c.324G>A, NM_001387248.1:c.219G>A, XM_047426543.1:c.324G>A, NM_001387242.1:c.219G>A, NM_001387236.1:c.219G>A, NM_001387251.1:c.138G>A, NM_001387257.1:c.*34G>A, NM_001387232.1:c.219G>A, NM_001387237.1:c.219G>A, NR_170611.1:n.515G>A, NM_001387247.1:c.219G>A, NM_001387259.1:c.*34G>A, NM_001387243.1:c.219G>A, NM_001387230.1:c.219G>A, NR_170610.1:n.485G>A, NM_001387238.1:c.219G>A, NM_001387239.1:c.219G>A, NM_001387246.1:c.219G>A, NM_001387258.1:c.*34G>A, NM_001387255.1:c.*34G>A, NM_001387235.1:c.219G>A, NM_001387245.1:c.219G>A, NM_001387234.1:c.219G>A, NM_001387252.1:c.138G>A, NM_001387240.1:c.219G>A, NM_001387254.1:c.138G>A, NR_170602.1:n.364G>A, NR_170600.1:n.328G>A, NM_001387253.1:c.138G>A, NR_170613.1:n.323G>A, NM_001387250.1:c.138G>A, NR_170609.1:n.308G>A, NR_170604.1:n.277G>A, NR_170601.1:n.227G>A, NR_170612.1:n.226G>A, NR_170605.1:n.197G>A, NR_170608.1:n.182G>A, NR_170603.1:n.180G>A, NR_170607.1:n.151G>A, NR_170606.1:n.102G>A

      3.

      rs1481111372 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        11:125102140 (GRCh38)
        11:124972036 (GRCh37)
        Canonical SPDI:
        NC_000011.10:125102139:C:A
        Gene:
        TMEM218 (Varview)
        Functional Consequence:
        intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000011.10:g.125102140C>A, NC_000011.9:g.124972036C>A, XM_006718780.4:c.207G>T, XM_006718780.3:c.207G>T, XM_006718780.2:c.207G>T, XM_006718780.1:c.207G>T, NM_001258243.3:c.102G>T, NM_001258243.2:c.207G>T, NM_001258243.1:c.207G>T, NM_001080546.3:c.102G>T, NM_001080546.2:c.102G>T, NM_001258242.3:c.102G>T, NM_001258242.2:c.207G>T, NM_001258242.1:c.207G>T, NM_001258246.3:c.102G>T, NM_001258246.2:c.207G>T, NM_001258246.1:c.207G>T, NM_001258239.3:c.102G>T, NM_001258239.2:c.207G>T, NM_001258239.1:c.207G>T, NM_001258245.2:c.102G>T, NM_001258245.1:c.102G>T, NM_001258240.2:c.102G>T, NM_001258240.1:c.102G>T, NM_001258241.2:c.102G>T, NM_001258241.1:c.102G>T, NR_047588.2:n.439G>T, NR_047588.1:n.521G>T, NM_001258244.2:c.102G>T, NM_001258244.1:c.102G>T, NR_047590.2:n.376G>T, NR_047590.1:n.458G>T, NM_001258247.2:c.102G>T, NM_001258247.1:c.102G>T, NM_001258238.2:c.102G>T, NM_001258238.1:c.102G>T, NR_047592.2:n.342G>T, NR_047592.1:n.424G>T, NR_047586.2:n.296G>T, NR_047586.1:n.433G>T, NM_001387241.1:c.102G>T, NM_001387231.1:c.102G>T, NM_001387244.1:c.102G>T, XM_047426541.1:c.207G>T, NM_001387249.1:c.102G>T, XM_047426540.1:c.207G>T, NM_001387256.1:c.207G>T, NM_001387233.1:c.102G>T, XM_047426542.1:c.207G>T, NM_001387248.1:c.102G>T, XM_047426543.1:c.207G>T, NM_001387242.1:c.102G>T, NM_001387236.1:c.102G>T, NM_001387257.1:c.207G>T, NM_001387232.1:c.102G>T, NM_001387237.1:c.102G>T, NR_170611.1:n.445G>T, NM_001387247.1:c.102G>T, NM_001387259.1:c.207G>T, NM_001387243.1:c.102G>T, NM_001387230.1:c.102G>T, NM_001387238.1:c.102G>T, NM_001387239.1:c.102G>T, NM_001387246.1:c.102G>T, NM_001387258.1:c.207G>T, NM_001387255.1:c.207G>T, NM_001387235.1:c.102G>T, NM_001387245.1:c.102G>T, NM_001387234.1:c.102G>T, NM_001387240.1:c.102G>T, NR_170602.1:n.294G>T

        4.

        rs1478226167 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:125102219 (GRCh38)
          11:124972115 (GRCh37)
          Canonical SPDI:
          NC_000011.10:125102218:A:G
          Gene:
          TMEM218 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.125102219A>G, NC_000011.9:g.124972115A>G, XM_006718780.4:c.128T>C, XM_006718780.3:c.128T>C, XM_006718780.2:c.128T>C, XM_006718780.1:c.128T>C, NM_001258243.3:c.23T>C, NM_001258243.2:c.128T>C, NM_001258243.1:c.128T>C, NM_001080546.3:c.23T>C, NM_001080546.2:c.23T>C, NM_001258242.3:c.23T>C, NM_001258242.2:c.128T>C, NM_001258242.1:c.128T>C, NM_001258246.3:c.23T>C, NM_001258246.2:c.128T>C, NM_001258246.1:c.128T>C, NM_001258239.3:c.23T>C, NM_001258239.2:c.128T>C, NM_001258239.1:c.128T>C, NM_001258245.2:c.23T>C, NM_001258245.1:c.23T>C, NM_001258240.2:c.23T>C, NM_001258240.1:c.23T>C, NM_001258241.2:c.23T>C, NM_001258241.1:c.23T>C, NR_047588.2:n.360T>C, NR_047588.1:n.442T>C, NM_001258244.2:c.23T>C, NM_001258244.1:c.23T>C, NR_047590.2:n.297T>C, NR_047590.1:n.379T>C, NM_001258247.2:c.23T>C, NM_001258247.1:c.23T>C, NM_001258238.2:c.23T>C, NM_001258238.1:c.23T>C, NR_047592.2:n.263T>C, NR_047592.1:n.345T>C, NR_047586.2:n.217T>C, NR_047586.1:n.354T>C, NM_001387241.1:c.23T>C, NM_001387231.1:c.23T>C, NM_001387244.1:c.23T>C, XM_047426541.1:c.128T>C, NM_001387249.1:c.23T>C, XM_047426540.1:c.128T>C, NM_001387256.1:c.128T>C, NM_001387233.1:c.23T>C, XM_047426542.1:c.128T>C, NM_001387248.1:c.23T>C, XM_047426543.1:c.128T>C, NM_001387242.1:c.23T>C, NM_001387236.1:c.23T>C, NM_001387257.1:c.128T>C, NM_001387232.1:c.23T>C, NM_001387237.1:c.23T>C, NR_170611.1:n.366T>C, NM_001387247.1:c.23T>C, NM_001387259.1:c.128T>C, NM_001387243.1:c.23T>C, NM_001387230.1:c.23T>C, NM_001387238.1:c.23T>C, NM_001387239.1:c.23T>C, NM_001387246.1:c.23T>C, NM_001387258.1:c.128T>C, NM_001387255.1:c.128T>C, NM_001387235.1:c.23T>C, NM_001387245.1:c.23T>C, NM_001387234.1:c.23T>C, NM_001387240.1:c.23T>C, NR_170602.1:n.215T>C, XP_006718843.1:p.Val43Ala, NP_001245172.2:p.Val8Ala, NP_001074015.1:p.Val8Ala, NP_001245171.2:p.Val8Ala, NP_001245175.2:p.Val8Ala, NP_001245168.2:p.Val8Ala, NP_001245174.1:p.Val8Ala, NP_001245169.1:p.Val8Ala, NP_001245170.1:p.Val8Ala, NP_001245173.1:p.Val8Ala, NP_001245176.1:p.Val8Ala, NP_001245167.1:p.Val8Ala, NP_001374170.1:p.Val8Ala, NP_001374160.1:p.Val8Ala, NP_001374173.1:p.Val8Ala, XP_047282497.1:p.Val43Ala, NP_001374178.1:p.Val8Ala, XP_047282496.1:p.Val43Ala, NP_001374185.1:p.Val43Ala, NP_001374162.1:p.Val8Ala, XP_047282498.1:p.Val43Ala, NP_001374177.1:p.Val8Ala, XP_047282499.1:p.Val43Ala, NP_001374171.1:p.Val8Ala, NP_001374165.1:p.Val8Ala, NP_001374186.1:p.Val43Ala, NP_001374161.1:p.Val8Ala, NP_001374166.1:p.Val8Ala, NP_001374176.1:p.Val8Ala, NP_001374188.1:p.Val43Ala, NP_001374159.1:p.Val8Ala, NP_001374167.1:p.Val8Ala, NP_001374168.1:p.Val8Ala, NP_001374175.1:p.Val8Ala, NP_001374187.1:p.Val43Ala, NP_001374184.1:p.Val43Ala, NP_001374164.1:p.Val8Ala, NP_001374174.1:p.Val8Ala, NP_001374163.1:p.Val8Ala, NP_001374169.1:p.Val8Ala

          5.

          rs1449000013 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:125102205 (GRCh38)
            11:124972101 (GRCh37)
            Canonical SPDI:
            NC_000011.10:125102204:A:G
            Gene:
            TMEM218 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000011.10:g.125102205A>G, NC_000011.9:g.124972101A>G, XM_006718780.4:c.142T>C, XM_006718780.3:c.142T>C, XM_006718780.2:c.142T>C, XM_006718780.1:c.142T>C, NM_001258243.3:c.37T>C, NM_001258243.2:c.142T>C, NM_001258243.1:c.142T>C, NM_001080546.3:c.37T>C, NM_001080546.2:c.37T>C, NM_001258242.3:c.37T>C, NM_001258242.2:c.142T>C, NM_001258242.1:c.142T>C, NM_001258246.3:c.37T>C, NM_001258246.2:c.142T>C, NM_001258246.1:c.142T>C, NM_001258239.3:c.37T>C, NM_001258239.2:c.142T>C, NM_001258239.1:c.142T>C, NM_001258245.2:c.37T>C, NM_001258245.1:c.37T>C, NM_001258240.2:c.37T>C, NM_001258240.1:c.37T>C, NM_001258241.2:c.37T>C, NM_001258241.1:c.37T>C, NR_047588.2:n.374T>C, NR_047588.1:n.456T>C, NM_001258244.2:c.37T>C, NM_001258244.1:c.37T>C, NR_047590.2:n.311T>C, NR_047590.1:n.393T>C, NM_001258247.2:c.37T>C, NM_001258247.1:c.37T>C, NM_001258238.2:c.37T>C, NM_001258238.1:c.37T>C, NR_047592.2:n.277T>C, NR_047592.1:n.359T>C, NR_047586.2:n.231T>C, NR_047586.1:n.368T>C, NM_001387241.1:c.37T>C, NM_001387231.1:c.37T>C, NM_001387244.1:c.37T>C, XM_047426541.1:c.142T>C, NM_001387249.1:c.37T>C, XM_047426540.1:c.142T>C, NM_001387256.1:c.142T>C, NM_001387233.1:c.37T>C, XM_047426542.1:c.142T>C, NM_001387248.1:c.37T>C, XM_047426543.1:c.142T>C, NM_001387242.1:c.37T>C, NM_001387236.1:c.37T>C, NM_001387257.1:c.142T>C, NM_001387232.1:c.37T>C, NM_001387237.1:c.37T>C, NR_170611.1:n.380T>C, NM_001387247.1:c.37T>C, NM_001387259.1:c.142T>C, NM_001387243.1:c.37T>C, NM_001387230.1:c.37T>C, NM_001387238.1:c.37T>C, NM_001387239.1:c.37T>C, NM_001387246.1:c.37T>C, NM_001387258.1:c.142T>C, NM_001387255.1:c.142T>C, NM_001387235.1:c.37T>C, NM_001387245.1:c.37T>C, NM_001387234.1:c.37T>C, NM_001387240.1:c.37T>C, NR_170602.1:n.229T>C, XP_006718843.1:p.Phe48Leu, NP_001245172.2:p.Phe13Leu, NP_001074015.1:p.Phe13Leu, NP_001245171.2:p.Phe13Leu, NP_001245175.2:p.Phe13Leu, NP_001245168.2:p.Phe13Leu, NP_001245174.1:p.Phe13Leu, NP_001245169.1:p.Phe13Leu, NP_001245170.1:p.Phe13Leu, NP_001245173.1:p.Phe13Leu, NP_001245176.1:p.Phe13Leu, NP_001245167.1:p.Phe13Leu, NP_001374170.1:p.Phe13Leu, NP_001374160.1:p.Phe13Leu, NP_001374173.1:p.Phe13Leu, XP_047282497.1:p.Phe48Leu, NP_001374178.1:p.Phe13Leu, XP_047282496.1:p.Phe48Leu, NP_001374185.1:p.Phe48Leu, NP_001374162.1:p.Phe13Leu, XP_047282498.1:p.Phe48Leu, NP_001374177.1:p.Phe13Leu, XP_047282499.1:p.Phe48Leu, NP_001374171.1:p.Phe13Leu, NP_001374165.1:p.Phe13Leu, NP_001374186.1:p.Phe48Leu, NP_001374161.1:p.Phe13Leu, NP_001374166.1:p.Phe13Leu, NP_001374176.1:p.Phe13Leu, NP_001374188.1:p.Phe48Leu, NP_001374159.1:p.Phe13Leu, NP_001374167.1:p.Phe13Leu, NP_001374168.1:p.Phe13Leu, NP_001374175.1:p.Phe13Leu, NP_001374187.1:p.Phe48Leu, NP_001374184.1:p.Phe48Leu, NP_001374164.1:p.Phe13Leu, NP_001374174.1:p.Phe13Leu, NP_001374163.1:p.Phe13Leu, NP_001374169.1:p.Phe13Leu

            6.

            rs1444972747 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:125101246 (GRCh38)
              11:124971142 (GRCh37)
              Canonical SPDI:
              NC_000011.10:125101245:A:G
              Gene:
              TMEM218 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.125101246A>G, NC_000011.9:g.124971142A>G, XM_006718780.4:c.273T>C, XM_006718780.3:c.273T>C, XM_006718780.2:c.273T>C, XM_006718780.1:c.273T>C, NM_001258243.3:c.168T>C, NM_001258243.2:c.273T>C, NM_001258243.1:c.273T>C, NM_001080546.3:c.168T>C, NM_001080546.2:c.168T>C, NM_001258242.3:c.168T>C, NM_001258242.2:c.273T>C, NM_001258242.1:c.273T>C, NM_001258246.3:c.168T>C, NM_001258246.2:c.273T>C, NM_001258246.1:c.273T>C, NM_001258239.3:c.168T>C, NM_001258239.2:c.273T>C, NM_001258239.1:c.273T>C, NM_001258245.2:c.168T>C, NM_001258245.1:c.168T>C, NM_001258240.2:c.168T>C, NM_001258240.1:c.168T>C, NM_001258241.2:c.168T>C, NM_001258241.1:c.168T>C, NR_047588.2:n.458T>C, NR_047588.1:n.540T>C, NM_001258244.2:c.168T>C, NM_001258244.1:c.168T>C, NR_047590.2:n.395T>C, NR_047590.1:n.477T>C, NM_001258247.2:c.168T>C, NM_001258247.1:c.168T>C, NM_001258238.2:c.168T>C, NM_001258238.1:c.168T>C, NR_047592.2:n.361T>C, NR_047592.1:n.443T>C, NR_047586.2:n.315T>C, NR_047586.1:n.452T>C, NR_047591.2:n.281T>C, NR_047591.1:n.363T>C, NR_047589.2:n.222T>C, NR_047589.1:n.304T>C, NR_047587.2:n.98T>C, NR_047587.1:n.235T>C, NM_001387241.1:c.168T>C, NM_001387231.1:c.168T>C, NM_001387244.1:c.168T>C, XM_047426541.1:c.273T>C, NM_001387249.1:c.246T>C, XM_047426540.1:c.273T>C, NM_001387256.1:c.226T>C, NM_001387233.1:c.168T>C, XM_047426542.1:c.273T>C, NM_001387248.1:c.168T>C, XM_047426543.1:c.273T>C, NM_001387242.1:c.168T>C, NM_001387236.1:c.168T>C, NM_001387251.1:c.87T>C, NM_001387257.1:c.226T>C, NM_001387232.1:c.168T>C, NM_001387237.1:c.168T>C, NR_170611.1:n.464T>C, NM_001387247.1:c.168T>C, NM_001387259.1:c.226T>C, NM_001387243.1:c.168T>C, NM_001387230.1:c.168T>C, NR_170610.1:n.434T>C, NM_001387238.1:c.168T>C, NM_001387239.1:c.168T>C, NM_001387246.1:c.168T>C, NM_001387258.1:c.226T>C, NM_001387255.1:c.226T>C, NM_001387235.1:c.168T>C, NM_001387245.1:c.168T>C, NM_001387234.1:c.168T>C, NM_001387252.1:c.87T>C, NM_001387240.1:c.168T>C, NM_001387254.1:c.87T>C, NR_170602.1:n.313T>C, NR_170600.1:n.277T>C, NM_001387253.1:c.87T>C, NR_170613.1:n.272T>C, NM_001387250.1:c.87T>C, NR_170609.1:n.257T>C, NR_170604.1:n.226T>C, NR_170601.1:n.176T>C, NR_170612.1:n.175T>C, NR_170605.1:n.146T>C, NR_170608.1:n.131T>C, NR_170603.1:n.129T>C, NR_170607.1:n.100T>C, NR_170606.1:n.51T>C, NP_001374185.1:p.Phe76Leu, NP_001374186.1:p.Phe76Leu, NP_001374188.1:p.Phe76Leu, NP_001374187.1:p.Phe76Leu, NP_001374184.1:p.Phe76Leu

              7.

              rs1442006558 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                11:125101294 (GRCh38)
                11:124971190 (GRCh37)
                Canonical SPDI:
                NC_000011.10:125101293:G:C
                Gene:
                TMEM218 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000011.10:g.125101294G>C, NC_000011.9:g.124971190G>C, XM_006718780.4:c.225C>G, XM_006718780.3:c.225C>G, XM_006718780.2:c.225C>G, XM_006718780.1:c.225C>G, NM_001258243.3:c.120C>G, NM_001258243.2:c.225C>G, NM_001258243.1:c.225C>G, NM_001080546.3:c.120C>G, NM_001080546.2:c.120C>G, NM_001258242.3:c.120C>G, NM_001258242.2:c.225C>G, NM_001258242.1:c.225C>G, NM_001258246.3:c.120C>G, NM_001258246.2:c.225C>G, NM_001258246.1:c.225C>G, NM_001258239.3:c.120C>G, NM_001258239.2:c.225C>G, NM_001258239.1:c.225C>G, NM_001258245.2:c.120C>G, NM_001258245.1:c.120C>G, NM_001258240.2:c.120C>G, NM_001258240.1:c.120C>G, NM_001258241.2:c.120C>G, NM_001258241.1:c.120C>G, NM_001258244.2:c.120C>G, NM_001258244.1:c.120C>G, NM_001258247.2:c.120C>G, NM_001258247.1:c.120C>G, NM_001258238.2:c.120C>G, NM_001258238.1:c.120C>G, NR_047591.2:n.233C>G, NR_047591.1:n.315C>G, NR_047589.2:n.174C>G, NR_047589.1:n.256C>G, NR_047587.2:n.50C>G, NR_047587.1:n.187C>G, NM_001387241.1:c.120C>G, NM_001387231.1:c.120C>G, NM_001387244.1:c.120C>G, XM_047426541.1:c.225C>G, NM_001387249.1:c.198C>G, XM_047426540.1:c.225C>G, NM_001387233.1:c.120C>G, XM_047426542.1:c.225C>G, NM_001387248.1:c.120C>G, XM_047426543.1:c.225C>G, NM_001387242.1:c.120C>G, NM_001387236.1:c.120C>G, NM_001387251.1:c.39C>G, NM_001387232.1:c.120C>G, NM_001387237.1:c.120C>G, NM_001387247.1:c.120C>G, NM_001387243.1:c.120C>G, NM_001387230.1:c.120C>G, NM_001387238.1:c.120C>G, NM_001387239.1:c.120C>G, NM_001387246.1:c.120C>G, NM_001387235.1:c.120C>G, NM_001387245.1:c.120C>G, NM_001387234.1:c.120C>G, NM_001387252.1:c.39C>G, NM_001387240.1:c.120C>G, NM_001387254.1:c.39C>G, NR_170600.1:n.229C>G, NM_001387253.1:c.39C>G, NM_001387250.1:c.39C>G, NR_170601.1:n.128C>G, NR_170605.1:n.98C>G, NR_170608.1:n.83C>G, NR_170607.1:n.52C>G

                8.

                rs1438244193 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:125097666 (GRCh38)
                  11:124967562 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:125097665:G:A
                  Gene:
                  TMEM218 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000011.10:g.125097666G>A, NC_000011.9:g.124967562G>A, XM_006718780.4:c.393C>T, XM_006718780.3:c.393C>T, XM_006718780.2:c.393C>T, XM_006718780.1:c.393C>T, NM_001258243.3:c.288C>T, NM_001258243.2:c.393C>T, NM_001258243.1:c.393C>T, NM_001080546.3:c.288C>T, NM_001080546.2:c.288C>T, NM_001258242.3:c.288C>T, NM_001258242.2:c.393C>T, NM_001258242.1:c.393C>T, NM_001258246.3:c.288C>T, NM_001258246.2:c.393C>T, NM_001258246.1:c.393C>T, NM_001258239.3:c.288C>T, NM_001258239.2:c.393C>T, NM_001258239.1:c.393C>T, NM_001258245.2:c.288C>T, NM_001258245.1:c.288C>T, NM_001258240.2:c.288C>T, NM_001258240.1:c.288C>T, NM_001258241.2:c.288C>T, NM_001258241.1:c.288C>T, NR_047588.2:n.578C>T, NR_047588.1:n.660C>T, NM_001258244.2:c.288C>T, NM_001258244.1:c.288C>T, NR_047590.2:n.515C>T, NR_047590.1:n.597C>T, NM_001258247.2:c.288C>T, NM_001258247.1:c.288C>T, NM_001258238.2:c.288C>T, NM_001258238.1:c.288C>T, NR_047592.2:n.481C>T, NR_047592.1:n.563C>T, NR_047586.2:n.435C>T, NR_047586.1:n.572C>T, NR_047591.2:n.401C>T, NR_047591.1:n.483C>T, NR_047589.2:n.342C>T, NR_047589.1:n.424C>T, NR_047587.2:n.218C>T, NR_047587.1:n.355C>T, NM_001387241.1:c.288C>T, NM_001387231.1:c.288C>T, NM_001387244.1:c.288C>T, XM_047426541.1:c.393C>T, NM_001387249.1:c.366C>T, XM_047426540.1:c.393C>T, NM_001387256.1:c.*103C>T, NM_001387233.1:c.288C>T, XM_047426542.1:c.393C>T, NM_001387248.1:c.288C>T, XM_047426543.1:c.393C>T, NM_001387242.1:c.288C>T, NM_001387236.1:c.288C>T, NM_001387251.1:c.207C>T, NM_001387257.1:c.*103C>T, NM_001387232.1:c.288C>T, NM_001387237.1:c.288C>T, NR_170611.1:n.584C>T, NM_001387247.1:c.288C>T, NM_001387259.1:c.*103C>T, NM_001387243.1:c.288C>T, NM_001387230.1:c.288C>T, NR_170610.1:n.554C>T, NM_001387238.1:c.288C>T, NM_001387239.1:c.288C>T, NM_001387246.1:c.288C>T, NM_001387258.1:c.*103C>T, NM_001387255.1:c.*103C>T, NM_001387235.1:c.288C>T, NM_001387245.1:c.288C>T, NM_001387234.1:c.288C>T, NM_001387252.1:c.207C>T, NM_001387240.1:c.288C>T, NM_001387254.1:c.207C>T, NR_170602.1:n.433C>T, NR_170600.1:n.397C>T, NM_001387253.1:c.207C>T, NR_170613.1:n.392C>T, NM_001387250.1:c.207C>T, NR_170609.1:n.377C>T, NR_170604.1:n.346C>T, NR_170601.1:n.296C>T, NR_170612.1:n.295C>T, NR_170605.1:n.266C>T, NR_170608.1:n.251C>T, NR_170603.1:n.249C>T, NR_170607.1:n.220C>T, NR_170606.1:n.171C>T

                  9.

                  rs1430384328 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:125101215 (GRCh38)
                    11:124971111 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:125101214:C:T
                    Gene:
                    TMEM218 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000011.10:g.125101215C>T, NC_000011.9:g.124971111C>T, XM_006718780.4:c.304G>A, XM_006718780.3:c.304G>A, XM_006718780.2:c.304G>A, XM_006718780.1:c.304G>A, NM_001258243.3:c.199G>A, NM_001258243.2:c.304G>A, NM_001258243.1:c.304G>A, NM_001080546.3:c.199G>A, NM_001080546.2:c.199G>A, NM_001258242.3:c.199G>A, NM_001258242.2:c.304G>A, NM_001258242.1:c.304G>A, NM_001258246.3:c.199G>A, NM_001258246.2:c.304G>A, NM_001258246.1:c.304G>A, NM_001258239.3:c.199G>A, NM_001258239.2:c.304G>A, NM_001258239.1:c.304G>A, NM_001258245.2:c.199G>A, NM_001258245.1:c.199G>A, NM_001258240.2:c.199G>A, NM_001258240.1:c.199G>A, NM_001258241.2:c.199G>A, NM_001258241.1:c.199G>A, NR_047588.2:n.489G>A, NR_047588.1:n.571G>A, NM_001258244.2:c.199G>A, NM_001258244.1:c.199G>A, NR_047590.2:n.426G>A, NR_047590.1:n.508G>A, NM_001258247.2:c.199G>A, NM_001258247.1:c.199G>A, NM_001258238.2:c.199G>A, NM_001258238.1:c.199G>A, NR_047592.2:n.392G>A, NR_047592.1:n.474G>A, NR_047586.2:n.346G>A, NR_047586.1:n.483G>A, NR_047591.2:n.312G>A, NR_047591.1:n.394G>A, NR_047589.2:n.253G>A, NR_047589.1:n.335G>A, NR_047587.2:n.129G>A, NR_047587.1:n.266G>A, NM_001387241.1:c.199G>A, NM_001387231.1:c.199G>A, NM_001387244.1:c.199G>A, XM_047426541.1:c.304G>A, NM_001387249.1:c.277G>A, XM_047426540.1:c.304G>A, NM_001387256.1:c.*14G>A, NM_001387233.1:c.199G>A, XM_047426542.1:c.304G>A, NM_001387248.1:c.199G>A, XM_047426543.1:c.304G>A, NM_001387242.1:c.199G>A, NM_001387236.1:c.199G>A, NM_001387251.1:c.118G>A, NM_001387257.1:c.*14G>A, NM_001387232.1:c.199G>A, NM_001387237.1:c.199G>A, NR_170611.1:n.495G>A, NM_001387247.1:c.199G>A, NM_001387259.1:c.*14G>A, NM_001387243.1:c.199G>A, NM_001387230.1:c.199G>A, NR_170610.1:n.465G>A, NM_001387238.1:c.199G>A, NM_001387239.1:c.199G>A, NM_001387246.1:c.199G>A, NM_001387258.1:c.*14G>A, NM_001387255.1:c.*14G>A, NM_001387235.1:c.199G>A, NM_001387245.1:c.199G>A, NM_001387234.1:c.199G>A, NM_001387252.1:c.118G>A, NM_001387240.1:c.199G>A, NM_001387254.1:c.118G>A, NR_170602.1:n.344G>A, NR_170600.1:n.308G>A, NM_001387253.1:c.118G>A, NR_170613.1:n.303G>A, NM_001387250.1:c.118G>A, NR_170609.1:n.288G>A, NR_170604.1:n.257G>A, NR_170601.1:n.207G>A, NR_170612.1:n.206G>A, NR_170605.1:n.177G>A, NR_170608.1:n.162G>A, NR_170603.1:n.160G>A, NR_170607.1:n.131G>A, NR_170606.1:n.82G>A, XP_006718843.1:p.Glu102Lys, NP_001245172.2:p.Glu67Lys, NP_001074015.1:p.Glu67Lys, NP_001245171.2:p.Glu67Lys, NP_001245175.2:p.Glu67Lys, NP_001245168.2:p.Glu67Lys, NP_001245174.1:p.Glu67Lys, NP_001245169.1:p.Glu67Lys, NP_001245170.1:p.Glu67Lys, NP_001245173.1:p.Glu67Lys, NP_001245176.1:p.Glu67Lys, NP_001245167.1:p.Glu67Lys, NP_001374170.1:p.Glu67Lys, NP_001374160.1:p.Glu67Lys, NP_001374173.1:p.Glu67Lys, XP_047282497.1:p.Glu102Lys, NP_001374178.1:p.Glu93Lys, XP_047282496.1:p.Glu102Lys, NP_001374162.1:p.Glu67Lys, XP_047282498.1:p.Glu102Lys, NP_001374177.1:p.Glu67Lys, XP_047282499.1:p.Glu102Lys, NP_001374171.1:p.Glu67Lys, NP_001374165.1:p.Glu67Lys, NP_001374180.1:p.Glu40Lys, NP_001374161.1:p.Glu67Lys, NP_001374166.1:p.Glu67Lys, NP_001374176.1:p.Glu67Lys, NP_001374159.1:p.Glu67Lys, NP_001374167.1:p.Glu67Lys, NP_001374168.1:p.Glu67Lys, NP_001374175.1:p.Glu67Lys, NP_001374164.1:p.Glu67Lys, NP_001374174.1:p.Glu67Lys, NP_001374163.1:p.Glu67Lys, NP_001374181.1:p.Glu40Lys, NP_001374169.1:p.Glu67Lys, NP_001374183.1:p.Glu40Lys, NP_001374182.1:p.Glu40Lys, NP_001374179.1:p.Glu40Lys

                    10.

                    rs1429865860 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:125097692 (GRCh38)
                      11:124967588 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:125097691:T:C
                      Gene:
                      TMEM218 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.125097692T>C, NC_000011.9:g.124967588T>C, XM_006718780.4:c.367A>G, XM_006718780.3:c.367A>G, XM_006718780.2:c.367A>G, XM_006718780.1:c.367A>G, NM_001258243.3:c.262A>G, NM_001258243.2:c.367A>G, NM_001258243.1:c.367A>G, NM_001080546.3:c.262A>G, NM_001080546.2:c.262A>G, NM_001258242.3:c.262A>G, NM_001258242.2:c.367A>G, NM_001258242.1:c.367A>G, NM_001258246.3:c.262A>G, NM_001258246.2:c.367A>G, NM_001258246.1:c.367A>G, NM_001258239.3:c.262A>G, NM_001258239.2:c.367A>G, NM_001258239.1:c.367A>G, NM_001258245.2:c.262A>G, NM_001258245.1:c.262A>G, NM_001258240.2:c.262A>G, NM_001258240.1:c.262A>G, NM_001258241.2:c.262A>G, NM_001258241.1:c.262A>G, NR_047588.2:n.552A>G, NR_047588.1:n.634A>G, NM_001258244.2:c.262A>G, NM_001258244.1:c.262A>G, NR_047590.2:n.489A>G, NR_047590.1:n.571A>G, NM_001258247.2:c.262A>G, NM_001258247.1:c.262A>G, NM_001258238.2:c.262A>G, NM_001258238.1:c.262A>G, NR_047592.2:n.455A>G, NR_047592.1:n.537A>G, NR_047586.2:n.409A>G, NR_047586.1:n.546A>G, NR_047591.2:n.375A>G, NR_047591.1:n.457A>G, NR_047589.2:n.316A>G, NR_047589.1:n.398A>G, NR_047587.2:n.192A>G, NR_047587.1:n.329A>G, NM_001387241.1:c.262A>G, NM_001387231.1:c.262A>G, NM_001387244.1:c.262A>G, XM_047426541.1:c.367A>G, NM_001387249.1:c.340A>G, XM_047426540.1:c.367A>G, NM_001387256.1:c.*77A>G, NM_001387233.1:c.262A>G, XM_047426542.1:c.367A>G, NM_001387248.1:c.262A>G, XM_047426543.1:c.367A>G, NM_001387242.1:c.262A>G, NM_001387236.1:c.262A>G, NM_001387251.1:c.181A>G, NM_001387257.1:c.*77A>G, NM_001387232.1:c.262A>G, NM_001387237.1:c.262A>G, NR_170611.1:n.558A>G, NM_001387247.1:c.262A>G, NM_001387259.1:c.*77A>G, NM_001387243.1:c.262A>G, NM_001387230.1:c.262A>G, NR_170610.1:n.528A>G, NM_001387238.1:c.262A>G, NM_001387239.1:c.262A>G, NM_001387246.1:c.262A>G, NM_001387258.1:c.*77A>G, NM_001387255.1:c.*77A>G, NM_001387235.1:c.262A>G, NM_001387245.1:c.262A>G, NM_001387234.1:c.262A>G, NM_001387252.1:c.181A>G, NM_001387240.1:c.262A>G, NM_001387254.1:c.181A>G, NR_170602.1:n.407A>G, NR_170600.1:n.371A>G, NM_001387253.1:c.181A>G, NR_170613.1:n.366A>G, NM_001387250.1:c.181A>G, NR_170609.1:n.351A>G, NR_170604.1:n.320A>G, NR_170601.1:n.270A>G, NR_170612.1:n.269A>G, NR_170605.1:n.240A>G, NR_170608.1:n.225A>G, NR_170603.1:n.223A>G, NR_170607.1:n.194A>G, NR_170606.1:n.145A>G, XP_006718843.1:p.Ser123Gly, NP_001245172.2:p.Ser88Gly, NP_001074015.1:p.Ser88Gly, NP_001245171.2:p.Ser88Gly, NP_001245175.2:p.Ser88Gly, NP_001245168.2:p.Ser88Gly, NP_001245174.1:p.Ser88Gly, NP_001245169.1:p.Ser88Gly, NP_001245170.1:p.Ser88Gly, NP_001245173.1:p.Ser88Gly, NP_001245176.1:p.Ser88Gly, NP_001245167.1:p.Ser88Gly, NP_001374170.1:p.Ser88Gly, NP_001374160.1:p.Ser88Gly, NP_001374173.1:p.Ser88Gly, XP_047282497.1:p.Ser123Gly, NP_001374178.1:p.Ser114Gly, XP_047282496.1:p.Ser123Gly, NP_001374162.1:p.Ser88Gly, XP_047282498.1:p.Ser123Gly, NP_001374177.1:p.Ser88Gly, XP_047282499.1:p.Ser123Gly, NP_001374171.1:p.Ser88Gly, NP_001374165.1:p.Ser88Gly, NP_001374180.1:p.Ser61Gly, NP_001374161.1:p.Ser88Gly, NP_001374166.1:p.Ser88Gly, NP_001374176.1:p.Ser88Gly, NP_001374159.1:p.Ser88Gly, NP_001374167.1:p.Ser88Gly, NP_001374168.1:p.Ser88Gly, NP_001374175.1:p.Ser88Gly, NP_001374164.1:p.Ser88Gly, NP_001374174.1:p.Ser88Gly, NP_001374163.1:p.Ser88Gly, NP_001374181.1:p.Ser61Gly, NP_001374169.1:p.Ser88Gly, NP_001374183.1:p.Ser61Gly, NP_001374182.1:p.Ser61Gly, NP_001374179.1:p.Ser61Gly

                      11.

                      rs1424639015 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ACACAGCAGCAGCAC>- [Show Flanks]
                        Chromosome:
                        11:125102164 (GRCh38)
                        11:124972060 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:125102154:CAGCAGCACACACAGCAGCAGCAC:CAGCAGCAC
                        Gene:
                        TMEM218 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,inframe_deletion,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CAGCAGCAC=0./0 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000011.10:g.125102164_125102178del, NC_000011.9:g.124972060_124972074del, XM_006718780.4:c.178_192del, XM_006718780.3:c.178_192del, XM_006718780.2:c.178_192del, XM_006718780.1:c.178_192del, NM_001258243.3:c.73_87del, NM_001258243.2:c.178_192del, NM_001258243.1:c.178_192del, NM_001080546.3:c.73_87del, NM_001080546.2:c.73_87del, NM_001258242.3:c.73_87del, NM_001258242.2:c.178_192del, NM_001258242.1:c.178_192del, NM_001258246.3:c.73_87del, NM_001258246.2:c.178_192del, NM_001258246.1:c.178_192del, NM_001258239.3:c.73_87del, NM_001258239.2:c.178_192del, NM_001258239.1:c.178_192del, NM_001258245.2:c.73_87del, NM_001258245.1:c.73_87del, NM_001258240.2:c.73_87del, NM_001258240.1:c.73_87del, NM_001258241.2:c.73_87del, NM_001258241.1:c.73_87del, NR_047588.2:n.410_424del, NR_047588.1:n.492_506del, NM_001258244.2:c.73_87del, NM_001258244.1:c.73_87del, NR_047590.2:n.347_361del, NR_047590.1:n.429_443del, NM_001258247.2:c.73_87del, NM_001258247.1:c.73_87del, NM_001258238.2:c.73_87del, NM_001258238.1:c.73_87del, NR_047592.2:n.313_327del, NR_047592.1:n.395_409del, NR_047586.2:n.267_281del, NR_047586.1:n.404_418del, NM_001387241.1:c.73_87del, NM_001387231.1:c.73_87del, NM_001387244.1:c.73_87del, XM_047426541.1:c.178_192del, NM_001387249.1:c.73_87del, XM_047426540.1:c.178_192del, NM_001387256.1:c.178_192del, NM_001387233.1:c.73_87del, XM_047426542.1:c.178_192del, NM_001387248.1:c.73_87del, XM_047426543.1:c.178_192del, NM_001387242.1:c.73_87del, NM_001387236.1:c.73_87del, NM_001387257.1:c.178_192del, NM_001387232.1:c.73_87del, NM_001387237.1:c.73_87del, NR_170611.1:n.416_430del, NM_001387247.1:c.73_87del, NM_001387259.1:c.178_192del, NM_001387243.1:c.73_87del, NM_001387230.1:c.73_87del, NM_001387238.1:c.73_87del, NM_001387239.1:c.73_87del, NM_001387246.1:c.73_87del, NM_001387258.1:c.178_192del, NM_001387255.1:c.178_192del, NM_001387235.1:c.73_87del, NM_001387245.1:c.73_87del, NM_001387234.1:c.73_87del, NM_001387240.1:c.73_87del, NR_170602.1:n.265_279del, XP_006718843.1:p.Leu60_Leu64del, NP_001245172.2:p.Leu25_Leu29del, NP_001074015.1:p.Leu25_Leu29del, NP_001245171.2:p.Leu25_Leu29del, NP_001245175.2:p.Leu25_Leu29del, NP_001245168.2:p.Leu25_Leu29del, NP_001245174.1:p.Leu25_Leu29del, NP_001245169.1:p.Leu25_Leu29del, NP_001245170.1:p.Leu25_Leu29del, NP_001245173.1:p.Leu25_Leu29del, NP_001245176.1:p.Leu25_Leu29del, NP_001245167.1:p.Leu25_Leu29del, NP_001374170.1:p.Leu25_Leu29del, NP_001374160.1:p.Leu25_Leu29del, NP_001374173.1:p.Leu25_Leu29del, XP_047282497.1:p.Leu60_Leu64del, NP_001374178.1:p.Leu25_Leu29del, XP_047282496.1:p.Leu60_Leu64del, NP_001374185.1:p.Leu60_Leu64del, NP_001374162.1:p.Leu25_Leu29del, XP_047282498.1:p.Leu60_Leu64del, NP_001374177.1:p.Leu25_Leu29del, XP_047282499.1:p.Leu60_Leu64del, NP_001374171.1:p.Leu25_Leu29del, NP_001374165.1:p.Leu25_Leu29del, NP_001374186.1:p.Leu60_Leu64del, NP_001374161.1:p.Leu25_Leu29del, NP_001374166.1:p.Leu25_Leu29del, NP_001374176.1:p.Leu25_Leu29del, NP_001374188.1:p.Leu60_Leu64del, NP_001374159.1:p.Leu25_Leu29del, NP_001374167.1:p.Leu25_Leu29del, NP_001374168.1:p.Leu25_Leu29del, NP_001374175.1:p.Leu25_Leu29del, NP_001374187.1:p.Leu60_Leu64del, NP_001374184.1:p.Leu60_Leu64del, NP_001374164.1:p.Leu25_Leu29del, NP_001374174.1:p.Leu25_Leu29del, NP_001374163.1:p.Leu25_Leu29del, NP_001374169.1:p.Leu25_Leu29del

                        12.

                        rs1421437691 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:125097649 (GRCh38)
                          11:124967545 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:125097648:T:C
                          Gene:
                          TMEM218 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000066/2 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.125097649T>C, NC_000011.9:g.124967545T>C, XM_006718780.4:c.410A>G, XM_006718780.3:c.410A>G, XM_006718780.2:c.410A>G, XM_006718780.1:c.410A>G, NM_001258243.3:c.305A>G, NM_001258243.2:c.410A>G, NM_001258243.1:c.410A>G, NM_001080546.3:c.305A>G, NM_001080546.2:c.305A>G, NM_001258242.3:c.305A>G, NM_001258242.2:c.410A>G, NM_001258242.1:c.410A>G, NM_001258246.3:c.305A>G, NM_001258246.2:c.410A>G, NM_001258246.1:c.410A>G, NM_001258239.3:c.305A>G, NM_001258239.2:c.410A>G, NM_001258239.1:c.410A>G, NM_001258245.2:c.305A>G, NM_001258245.1:c.305A>G, NM_001258240.2:c.305A>G, NM_001258240.1:c.305A>G, NM_001258241.2:c.305A>G, NM_001258241.1:c.305A>G, NR_047588.2:n.595A>G, NR_047588.1:n.677A>G, NM_001258244.2:c.305A>G, NM_001258244.1:c.305A>G, NR_047590.2:n.532A>G, NR_047590.1:n.614A>G, NM_001258247.2:c.305A>G, NM_001258247.1:c.305A>G, NM_001258238.2:c.305A>G, NM_001258238.1:c.305A>G, NR_047592.2:n.498A>G, NR_047592.1:n.580A>G, NR_047586.2:n.452A>G, NR_047586.1:n.589A>G, NR_047591.2:n.418A>G, NR_047591.1:n.500A>G, NR_047589.2:n.359A>G, NR_047589.1:n.441A>G, NR_047587.2:n.235A>G, NR_047587.1:n.372A>G, NM_001387241.1:c.305A>G, NM_001387231.1:c.305A>G, NM_001387244.1:c.305A>G, XM_047426541.1:c.410A>G, NM_001387249.1:c.383A>G, XM_047426540.1:c.410A>G, NM_001387256.1:c.*120A>G, NM_001387233.1:c.305A>G, XM_047426542.1:c.410A>G, NM_001387248.1:c.305A>G, XM_047426543.1:c.410A>G, NM_001387242.1:c.305A>G, NM_001387236.1:c.305A>G, NM_001387251.1:c.224A>G, NM_001387257.1:c.*120A>G, NM_001387232.1:c.305A>G, NM_001387237.1:c.305A>G, NR_170611.1:n.601A>G, NM_001387247.1:c.305A>G, NM_001387259.1:c.*120A>G, NM_001387243.1:c.305A>G, NM_001387230.1:c.305A>G, NR_170610.1:n.571A>G, NM_001387238.1:c.305A>G, NM_001387239.1:c.305A>G, NM_001387246.1:c.305A>G, NM_001387258.1:c.*120A>G, NM_001387255.1:c.*120A>G, NM_001387235.1:c.305A>G, NM_001387245.1:c.305A>G, NM_001387234.1:c.305A>G, NM_001387252.1:c.224A>G, NM_001387240.1:c.305A>G, NM_001387254.1:c.224A>G, NR_170602.1:n.450A>G, NR_170600.1:n.414A>G, NM_001387253.1:c.224A>G, NR_170613.1:n.409A>G, NM_001387250.1:c.224A>G, NR_170609.1:n.394A>G, NR_170604.1:n.363A>G, NR_170601.1:n.313A>G, NR_170612.1:n.312A>G, NR_170605.1:n.283A>G, NR_170608.1:n.268A>G, NR_170603.1:n.266A>G, NR_170607.1:n.237A>G, NR_170606.1:n.188A>G, XP_006718843.1:p.Tyr137Cys, NP_001245172.2:p.Tyr102Cys, NP_001074015.1:p.Tyr102Cys, NP_001245171.2:p.Tyr102Cys, NP_001245175.2:p.Tyr102Cys, NP_001245168.2:p.Tyr102Cys, NP_001245174.1:p.Tyr102Cys, NP_001245169.1:p.Tyr102Cys, NP_001245170.1:p.Tyr102Cys, NP_001245173.1:p.Tyr102Cys, NP_001245176.1:p.Tyr102Cys, NP_001245167.1:p.Tyr102Cys, NP_001374170.1:p.Tyr102Cys, NP_001374160.1:p.Tyr102Cys, NP_001374173.1:p.Tyr102Cys, XP_047282497.1:p.Tyr137Cys, NP_001374178.1:p.Tyr128Cys, XP_047282496.1:p.Tyr137Cys, NP_001374162.1:p.Tyr102Cys, XP_047282498.1:p.Tyr137Cys, NP_001374177.1:p.Tyr102Cys, XP_047282499.1:p.Tyr137Cys, NP_001374171.1:p.Tyr102Cys, NP_001374165.1:p.Tyr102Cys, NP_001374180.1:p.Tyr75Cys, NP_001374161.1:p.Tyr102Cys, NP_001374166.1:p.Tyr102Cys, NP_001374176.1:p.Tyr102Cys, NP_001374159.1:p.Tyr102Cys, NP_001374167.1:p.Tyr102Cys, NP_001374168.1:p.Tyr102Cys, NP_001374175.1:p.Tyr102Cys, NP_001374164.1:p.Tyr102Cys, NP_001374174.1:p.Tyr102Cys, NP_001374163.1:p.Tyr102Cys, NP_001374181.1:p.Tyr75Cys, NP_001374169.1:p.Tyr102Cys, NP_001374183.1:p.Tyr75Cys, NP_001374182.1:p.Tyr75Cys, NP_001374179.1:p.Tyr75Cys

                          13.

                          rs1407243807 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:125102215 (GRCh38)
                            11:124972111 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:125102214:A:G
                            Gene:
                            TMEM218 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000011.10:g.125102215A>G, NC_000011.9:g.124972111A>G, XM_006718780.4:c.132T>C, XM_006718780.3:c.132T>C, XM_006718780.2:c.132T>C, XM_006718780.1:c.132T>C, NM_001258243.3:c.27T>C, NM_001258243.2:c.132T>C, NM_001258243.1:c.132T>C, NM_001080546.3:c.27T>C, NM_001080546.2:c.27T>C, NM_001258242.3:c.27T>C, NM_001258242.2:c.132T>C, NM_001258242.1:c.132T>C, NM_001258246.3:c.27T>C, NM_001258246.2:c.132T>C, NM_001258246.1:c.132T>C, NM_001258239.3:c.27T>C, NM_001258239.2:c.132T>C, NM_001258239.1:c.132T>C, NM_001258245.2:c.27T>C, NM_001258245.1:c.27T>C, NM_001258240.2:c.27T>C, NM_001258240.1:c.27T>C, NM_001258241.2:c.27T>C, NM_001258241.1:c.27T>C, NR_047588.2:n.364T>C, NR_047588.1:n.446T>C, NM_001258244.2:c.27T>C, NM_001258244.1:c.27T>C, NR_047590.2:n.301T>C, NR_047590.1:n.383T>C, NM_001258247.2:c.27T>C, NM_001258247.1:c.27T>C, NM_001258238.2:c.27T>C, NM_001258238.1:c.27T>C, NR_047592.2:n.267T>C, NR_047592.1:n.349T>C, NR_047586.2:n.221T>C, NR_047586.1:n.358T>C, NM_001387241.1:c.27T>C, NM_001387231.1:c.27T>C, NM_001387244.1:c.27T>C, XM_047426541.1:c.132T>C, NM_001387249.1:c.27T>C, XM_047426540.1:c.132T>C, NM_001387256.1:c.132T>C, NM_001387233.1:c.27T>C, XM_047426542.1:c.132T>C, NM_001387248.1:c.27T>C, XM_047426543.1:c.132T>C, NM_001387242.1:c.27T>C, NM_001387236.1:c.27T>C, NM_001387257.1:c.132T>C, NM_001387232.1:c.27T>C, NM_001387237.1:c.27T>C, NR_170611.1:n.370T>C, NM_001387247.1:c.27T>C, NM_001387259.1:c.132T>C, NM_001387243.1:c.27T>C, NM_001387230.1:c.27T>C, NM_001387238.1:c.27T>C, NM_001387239.1:c.27T>C, NM_001387246.1:c.27T>C, NM_001387258.1:c.132T>C, NM_001387255.1:c.132T>C, NM_001387235.1:c.27T>C, NM_001387245.1:c.27T>C, NM_001387234.1:c.27T>C, NM_001387240.1:c.27T>C, NR_170602.1:n.219T>C

                            14.

                            rs1384400895 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:125101241 (GRCh38)
                              11:124971137 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:125101240:G:A
                              Gene:
                              TMEM218 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.125101241G>A, NC_000011.9:g.124971137G>A, XM_006718780.4:c.278C>T, XM_006718780.3:c.278C>T, XM_006718780.2:c.278C>T, XM_006718780.1:c.278C>T, NM_001258243.3:c.173C>T, NM_001258243.2:c.278C>T, NM_001258243.1:c.278C>T, NM_001080546.3:c.173C>T, NM_001080546.2:c.173C>T, NM_001258242.3:c.173C>T, NM_001258242.2:c.278C>T, NM_001258242.1:c.278C>T, NM_001258246.3:c.173C>T, NM_001258246.2:c.278C>T, NM_001258246.1:c.278C>T, NM_001258239.3:c.173C>T, NM_001258239.2:c.278C>T, NM_001258239.1:c.278C>T, NM_001258245.2:c.173C>T, NM_001258245.1:c.173C>T, NM_001258240.2:c.173C>T, NM_001258240.1:c.173C>T, NM_001258241.2:c.173C>T, NM_001258241.1:c.173C>T, NR_047588.2:n.463C>T, NR_047588.1:n.545C>T, NM_001258244.2:c.173C>T, NM_001258244.1:c.173C>T, NR_047590.2:n.400C>T, NR_047590.1:n.482C>T, NM_001258247.2:c.173C>T, NM_001258247.1:c.173C>T, NM_001258238.2:c.173C>T, NM_001258238.1:c.173C>T, NR_047592.2:n.366C>T, NR_047592.1:n.448C>T, NR_047586.2:n.320C>T, NR_047586.1:n.457C>T, NR_047591.2:n.286C>T, NR_047591.1:n.368C>T, NR_047589.2:n.227C>T, NR_047589.1:n.309C>T, NR_047587.2:n.103C>T, NR_047587.1:n.240C>T, NM_001387241.1:c.173C>T, NM_001387231.1:c.173C>T, NM_001387244.1:c.173C>T, XM_047426541.1:c.278C>T, NM_001387249.1:c.251C>T, XM_047426540.1:c.278C>T, NM_001387256.1:c.231C>T, NM_001387233.1:c.173C>T, XM_047426542.1:c.278C>T, NM_001387248.1:c.173C>T, XM_047426543.1:c.278C>T, NM_001387242.1:c.173C>T, NM_001387236.1:c.173C>T, NM_001387251.1:c.92C>T, NM_001387257.1:c.231C>T, NM_001387232.1:c.173C>T, NM_001387237.1:c.173C>T, NR_170611.1:n.469C>T, NM_001387247.1:c.173C>T, NM_001387259.1:c.231C>T, NM_001387243.1:c.173C>T, NM_001387230.1:c.173C>T, NR_170610.1:n.439C>T, NM_001387238.1:c.173C>T, NM_001387239.1:c.173C>T, NM_001387246.1:c.173C>T, NM_001387258.1:c.231C>T, NM_001387255.1:c.231C>T, NM_001387235.1:c.173C>T, NM_001387245.1:c.173C>T, NM_001387234.1:c.173C>T, NM_001387252.1:c.92C>T, NM_001387240.1:c.173C>T, NM_001387254.1:c.92C>T, NR_170602.1:n.318C>T, NR_170600.1:n.282C>T, NM_001387253.1:c.92C>T, NR_170613.1:n.277C>T, NM_001387250.1:c.92C>T, NR_170609.1:n.262C>T, NR_170604.1:n.231C>T, NR_170601.1:n.181C>T, NR_170612.1:n.180C>T, NR_170605.1:n.151C>T, NR_170608.1:n.136C>T, NR_170603.1:n.134C>T, NR_170607.1:n.105C>T, NR_170606.1:n.56C>T, XP_006718843.1:p.Pro93Leu, NP_001245172.2:p.Pro58Leu, NP_001074015.1:p.Pro58Leu, NP_001245171.2:p.Pro58Leu, NP_001245175.2:p.Pro58Leu, NP_001245168.2:p.Pro58Leu, NP_001245174.1:p.Pro58Leu, NP_001245169.1:p.Pro58Leu, NP_001245170.1:p.Pro58Leu, NP_001245173.1:p.Pro58Leu, NP_001245176.1:p.Pro58Leu, NP_001245167.1:p.Pro58Leu, NP_001374170.1:p.Pro58Leu, NP_001374160.1:p.Pro58Leu, NP_001374173.1:p.Pro58Leu, XP_047282497.1:p.Pro93Leu, NP_001374178.1:p.Pro84Leu, XP_047282496.1:p.Pro93Leu, NP_001374162.1:p.Pro58Leu, XP_047282498.1:p.Pro93Leu, NP_001374177.1:p.Pro58Leu, XP_047282499.1:p.Pro93Leu, NP_001374171.1:p.Pro58Leu, NP_001374165.1:p.Pro58Leu, NP_001374180.1:p.Pro31Leu, NP_001374161.1:p.Pro58Leu, NP_001374166.1:p.Pro58Leu, NP_001374176.1:p.Pro58Leu, NP_001374159.1:p.Pro58Leu, NP_001374167.1:p.Pro58Leu, NP_001374168.1:p.Pro58Leu, NP_001374175.1:p.Pro58Leu, NP_001374164.1:p.Pro58Leu, NP_001374174.1:p.Pro58Leu, NP_001374163.1:p.Pro58Leu, NP_001374181.1:p.Pro31Leu, NP_001374169.1:p.Pro58Leu, NP_001374183.1:p.Pro31Leu, NP_001374182.1:p.Pro31Leu, NP_001374179.1:p.Pro31Leu

                              15.

                              rs1377159569 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AGA>- [Show Flanks]
                                Chromosome:
                                11:125097668 (GRCh38)
                                11:124967564 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:125097663:AAGAAGA:AAGA
                                Gene:
                                TMEM218 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.125097665AGA[1], NC_000011.9:g.124967561AGA[1], XM_006718780.4:c.390CTT[1], XM_006718780.3:c.390CTT[1], XM_006718780.2:c.390CTT[1], XM_006718780.1:c.390CTT[1], NM_001258243.3:c.285CTT[1], NM_001258243.2:c.390CTT[1], NM_001258243.1:c.390CTT[1], NM_001080546.3:c.285CTT[1], NM_001080546.2:c.285CTT[1], NM_001258242.3:c.285CTT[1], NM_001258242.2:c.390CTT[1], NM_001258242.1:c.390CTT[1], NM_001258246.3:c.285CTT[1], NM_001258246.2:c.390CTT[1], NM_001258246.1:c.390CTT[1], NM_001258239.3:c.285CTT[1], NM_001258239.2:c.390CTT[1], NM_001258239.1:c.390CTT[1], NM_001258245.2:c.285CTT[1], NM_001258245.1:c.285CTT[1], NM_001258240.2:c.285CTT[1], NM_001258240.1:c.285CTT[1], NM_001258241.2:c.285CTT[1], NM_001258241.1:c.285CTT[1], NR_047588.2:n.575CTT[1], NR_047588.1:n.657CTT[1], NM_001258244.2:c.285CTT[1], NM_001258244.1:c.285CTT[1], NR_047590.2:n.512CTT[1], NR_047590.1:n.594CTT[1], NM_001258247.2:c.285CTT[1], NM_001258247.1:c.285CTT[1], NM_001258238.2:c.285CTT[1], NM_001258238.1:c.285CTT[1], NR_047592.2:n.478CTT[1], NR_047592.1:n.560CTT[1], NR_047586.2:n.432CTT[1], NR_047586.1:n.569CTT[1], NR_047591.2:n.398CTT[1], NR_047591.1:n.480CTT[1], NR_047589.2:n.339CTT[1], NR_047589.1:n.421CTT[1], NR_047587.2:n.215CTT[1], NR_047587.1:n.352CTT[1], NM_001387241.1:c.285CTT[1], NM_001387231.1:c.285CTT[1], NM_001387244.1:c.285CTT[1], XM_047426541.1:c.390CTT[1], NM_001387249.1:c.363CTT[1], XM_047426540.1:c.390CTT[1], NM_001387256.1:c.*100CTT[1], NM_001387233.1:c.285CTT[1], XM_047426542.1:c.390CTT[1], NM_001387248.1:c.285CTT[1], XM_047426543.1:c.390CTT[1], NM_001387242.1:c.285CTT[1], NM_001387236.1:c.285CTT[1], NM_001387251.1:c.204CTT[1], NM_001387257.1:c.*100CTT[1], NM_001387232.1:c.285CTT[1], NM_001387237.1:c.285CTT[1], NR_170611.1:n.581CTT[1], NM_001387247.1:c.285CTT[1], NM_001387259.1:c.*100CTT[1], NM_001387243.1:c.285CTT[1], NM_001387230.1:c.285CTT[1], NR_170610.1:n.551CTT[1], NM_001387238.1:c.285CTT[1], NM_001387239.1:c.285CTT[1], NM_001387246.1:c.285CTT[1], NM_001387258.1:c.*100CTT[1], NM_001387255.1:c.*100CTT[1], NM_001387235.1:c.285CTT[1], NM_001387245.1:c.285CTT[1], NM_001387234.1:c.285CTT[1], NM_001387252.1:c.204CTT[1], NM_001387240.1:c.285CTT[1], NM_001387254.1:c.204CTT[1], NR_170602.1:n.430CTT[1], NR_170600.1:n.394CTT[1], NM_001387253.1:c.204CTT[1], NR_170613.1:n.389CTT[1], NM_001387250.1:c.204CTT[1], NR_170609.1:n.374CTT[1], NR_170604.1:n.343CTT[1], NR_170601.1:n.293CTT[1], NR_170612.1:n.292CTT[1], NR_170605.1:n.263CTT[1], NR_170608.1:n.248CTT[1], NR_170603.1:n.246CTT[1], NR_170607.1:n.217CTT[1], NR_170606.1:n.168CTT[1], XP_006718843.1:p.Phe131del, NP_001245172.2:p.Phe96del, NP_001074015.1:p.Phe96del, NP_001245171.2:p.Phe96del, NP_001245175.2:p.Phe96del, NP_001245168.2:p.Phe96del, NP_001245174.1:p.Phe96del, NP_001245169.1:p.Phe96del, NP_001245170.1:p.Phe96del, NP_001245173.1:p.Phe96del, NP_001245176.1:p.Phe96del, NP_001245167.1:p.Phe96del, NP_001374170.1:p.Phe96del, NP_001374160.1:p.Phe96del, NP_001374173.1:p.Phe96del, XP_047282497.1:p.Phe131del, NP_001374178.1:p.Phe122del, XP_047282496.1:p.Phe131del, NP_001374162.1:p.Phe96del, XP_047282498.1:p.Phe131del, NP_001374177.1:p.Phe96del, XP_047282499.1:p.Phe131del, NP_001374171.1:p.Phe96del, NP_001374165.1:p.Phe96del, NP_001374180.1:p.Phe69del, NP_001374161.1:p.Phe96del, NP_001374166.1:p.Phe96del, NP_001374176.1:p.Phe96del, NP_001374159.1:p.Phe96del, NP_001374167.1:p.Phe96del, NP_001374168.1:p.Phe96del, NP_001374175.1:p.Phe96del, NP_001374164.1:p.Phe96del, NP_001374174.1:p.Phe96del, NP_001374163.1:p.Phe96del, NP_001374181.1:p.Phe69del, NP_001374169.1:p.Phe96del, NP_001374183.1:p.Phe69del, NP_001374182.1:p.Phe69del, NP_001374179.1:p.Phe69del

                                16.

                                rs1364069875 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  11:125102148 (GRCh38)
                                  11:124972044 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:125102147:C:A
                                  Gene:
                                  TMEM218 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                  HGVS:
                                  NC_000011.10:g.125102148C>A, NC_000011.9:g.124972044C>A, XM_006718780.4:c.199G>T, XM_006718780.3:c.199G>T, XM_006718780.2:c.199G>T, XM_006718780.1:c.199G>T, NM_001258243.3:c.94G>T, NM_001258243.2:c.199G>T, NM_001258243.1:c.199G>T, NM_001080546.3:c.94G>T, NM_001080546.2:c.94G>T, NM_001258242.3:c.94G>T, NM_001258242.2:c.199G>T, NM_001258242.1:c.199G>T, NM_001258246.3:c.94G>T, NM_001258246.2:c.199G>T, NM_001258246.1:c.199G>T, NM_001258239.3:c.94G>T, NM_001258239.2:c.199G>T, NM_001258239.1:c.199G>T, NM_001258245.2:c.94G>T, NM_001258245.1:c.94G>T, NM_001258240.2:c.94G>T, NM_001258240.1:c.94G>T, NM_001258241.2:c.94G>T, NM_001258241.1:c.94G>T, NR_047588.2:n.431G>T, NR_047588.1:n.513G>T, NM_001258244.2:c.94G>T, NM_001258244.1:c.94G>T, NR_047590.2:n.368G>T, NR_047590.1:n.450G>T, NM_001258247.2:c.94G>T, NM_001258247.1:c.94G>T, NM_001258238.2:c.94G>T, NM_001258238.1:c.94G>T, NR_047592.2:n.334G>T, NR_047592.1:n.416G>T, NR_047586.2:n.288G>T, NR_047586.1:n.425G>T, NM_001387241.1:c.94G>T, NM_001387231.1:c.94G>T, NM_001387244.1:c.94G>T, XM_047426541.1:c.199G>T, NM_001387249.1:c.94G>T, XM_047426540.1:c.199G>T, NM_001387256.1:c.199G>T, NM_001387233.1:c.94G>T, XM_047426542.1:c.199G>T, NM_001387248.1:c.94G>T, XM_047426543.1:c.199G>T, NM_001387242.1:c.94G>T, NM_001387236.1:c.94G>T, NM_001387257.1:c.199G>T, NM_001387232.1:c.94G>T, NM_001387237.1:c.94G>T, NR_170611.1:n.437G>T, NM_001387247.1:c.94G>T, NM_001387259.1:c.199G>T, NM_001387243.1:c.94G>T, NM_001387230.1:c.94G>T, NM_001387238.1:c.94G>T, NM_001387239.1:c.94G>T, NM_001387246.1:c.94G>T, NM_001387258.1:c.199G>T, NM_001387255.1:c.199G>T, NM_001387235.1:c.94G>T, NM_001387245.1:c.94G>T, NM_001387234.1:c.94G>T, NM_001387240.1:c.94G>T, NR_170602.1:n.286G>T, XP_006718843.1:p.Ala67Ser, NP_001245172.2:p.Ala32Ser, NP_001074015.1:p.Ala32Ser, NP_001245171.2:p.Ala32Ser, NP_001245175.2:p.Ala32Ser, NP_001245168.2:p.Ala32Ser, NP_001245174.1:p.Ala32Ser, NP_001245169.1:p.Ala32Ser, NP_001245170.1:p.Ala32Ser, NP_001245173.1:p.Ala32Ser, NP_001245176.1:p.Ala32Ser, NP_001245167.1:p.Ala32Ser, NP_001374170.1:p.Ala32Ser, NP_001374160.1:p.Ala32Ser, NP_001374173.1:p.Ala32Ser, XP_047282497.1:p.Ala67Ser, NP_001374178.1:p.Ala32Ser, XP_047282496.1:p.Ala67Ser, NP_001374185.1:p.Ala67Ser, NP_001374162.1:p.Ala32Ser, XP_047282498.1:p.Ala67Ser, NP_001374177.1:p.Ala32Ser, XP_047282499.1:p.Ala67Ser, NP_001374171.1:p.Ala32Ser, NP_001374165.1:p.Ala32Ser, NP_001374186.1:p.Ala67Ser, NP_001374161.1:p.Ala32Ser, NP_001374166.1:p.Ala32Ser, NP_001374176.1:p.Ala32Ser, NP_001374188.1:p.Ala67Ser, NP_001374159.1:p.Ala32Ser, NP_001374167.1:p.Ala32Ser, NP_001374168.1:p.Ala32Ser, NP_001374175.1:p.Ala32Ser, NP_001374187.1:p.Ala67Ser, NP_001374184.1:p.Ala67Ser, NP_001374164.1:p.Ala32Ser, NP_001374174.1:p.Ala32Ser, NP_001374163.1:p.Ala32Ser, NP_001374169.1:p.Ala32Ser

                                  17.

                                  rs1360557279 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    11:125101216 (GRCh38)
                                    11:124971112 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:125101215:T:A
                                    Gene:
                                    TMEM218 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.125101216T>A, NC_000011.9:g.124971112T>A, XM_006718780.4:c.303A>T, XM_006718780.3:c.303A>T, XM_006718780.2:c.303A>T, XM_006718780.1:c.303A>T, NM_001258243.3:c.198A>T, NM_001258243.2:c.303A>T, NM_001258243.1:c.303A>T, NM_001080546.3:c.198A>T, NM_001080546.2:c.198A>T, NM_001258242.3:c.198A>T, NM_001258242.2:c.303A>T, NM_001258242.1:c.303A>T, NM_001258246.3:c.198A>T, NM_001258246.2:c.303A>T, NM_001258246.1:c.303A>T, NM_001258239.3:c.198A>T, NM_001258239.2:c.303A>T, NM_001258239.1:c.303A>T, NM_001258245.2:c.198A>T, NM_001258245.1:c.198A>T, NM_001258240.2:c.198A>T, NM_001258240.1:c.198A>T, NM_001258241.2:c.198A>T, NM_001258241.1:c.198A>T, NR_047588.2:n.488A>T, NR_047588.1:n.570A>T, NM_001258244.2:c.198A>T, NM_001258244.1:c.198A>T, NR_047590.2:n.425A>T, NR_047590.1:n.507A>T, NM_001258247.2:c.198A>T, NM_001258247.1:c.198A>T, NM_001258238.2:c.198A>T, NM_001258238.1:c.198A>T, NR_047592.2:n.391A>T, NR_047592.1:n.473A>T, NR_047586.2:n.345A>T, NR_047586.1:n.482A>T, NR_047591.2:n.311A>T, NR_047591.1:n.393A>T, NR_047589.2:n.252A>T, NR_047589.1:n.334A>T, NR_047587.2:n.128A>T, NR_047587.1:n.265A>T, NM_001387241.1:c.198A>T, NM_001387231.1:c.198A>T, NM_001387244.1:c.198A>T, XM_047426541.1:c.303A>T, NM_001387249.1:c.276A>T, XM_047426540.1:c.303A>T, NM_001387256.1:c.*13A>T, NM_001387233.1:c.198A>T, XM_047426542.1:c.303A>T, NM_001387248.1:c.198A>T, XM_047426543.1:c.303A>T, NM_001387242.1:c.198A>T, NM_001387236.1:c.198A>T, NM_001387251.1:c.117A>T, NM_001387257.1:c.*13A>T, NM_001387232.1:c.198A>T, NM_001387237.1:c.198A>T, NR_170611.1:n.494A>T, NM_001387247.1:c.198A>T, NM_001387259.1:c.*13A>T, NM_001387243.1:c.198A>T, NM_001387230.1:c.198A>T, NR_170610.1:n.464A>T, NM_001387238.1:c.198A>T, NM_001387239.1:c.198A>T, NM_001387246.1:c.198A>T, NM_001387258.1:c.*13A>T, NM_001387255.1:c.*13A>T, NM_001387235.1:c.198A>T, NM_001387245.1:c.198A>T, NM_001387234.1:c.198A>T, NM_001387252.1:c.117A>T, NM_001387240.1:c.198A>T, NM_001387254.1:c.117A>T, NR_170602.1:n.343A>T, NR_170600.1:n.307A>T, NM_001387253.1:c.117A>T, NR_170613.1:n.302A>T, NM_001387250.1:c.117A>T, NR_170609.1:n.287A>T, NR_170604.1:n.256A>T, NR_170601.1:n.206A>T, NR_170612.1:n.205A>T, NR_170605.1:n.176A>T, NR_170608.1:n.161A>T, NR_170603.1:n.159A>T, NR_170607.1:n.130A>T, NR_170606.1:n.81A>T

                                    18.

                                    rs1356949995 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:125102190 (GRCh38)
                                      11:124972086 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:125102189:G:A
                                      Gene:
                                      TMEM218 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.125102190G>A, NC_000011.9:g.124972086G>A, XM_006718780.4:c.157C>T, XM_006718780.3:c.157C>T, XM_006718780.2:c.157C>T, XM_006718780.1:c.157C>T, NM_001258243.3:c.52C>T, NM_001258243.2:c.157C>T, NM_001258243.1:c.157C>T, NM_001080546.3:c.52C>T, NM_001080546.2:c.52C>T, NM_001258242.3:c.52C>T, NM_001258242.2:c.157C>T, NM_001258242.1:c.157C>T, NM_001258246.3:c.52C>T, NM_001258246.2:c.157C>T, NM_001258246.1:c.157C>T, NM_001258239.3:c.52C>T, NM_001258239.2:c.157C>T, NM_001258239.1:c.157C>T, NM_001258245.2:c.52C>T, NM_001258245.1:c.52C>T, NM_001258240.2:c.52C>T, NM_001258240.1:c.52C>T, NM_001258241.2:c.52C>T, NM_001258241.1:c.52C>T, NR_047588.2:n.389C>T, NR_047588.1:n.471C>T, NM_001258244.2:c.52C>T, NM_001258244.1:c.52C>T, NR_047590.2:n.326C>T, NR_047590.1:n.408C>T, NM_001258247.2:c.52C>T, NM_001258247.1:c.52C>T, NM_001258238.2:c.52C>T, NM_001258238.1:c.52C>T, NR_047592.2:n.292C>T, NR_047592.1:n.374C>T, NR_047586.2:n.246C>T, NR_047586.1:n.383C>T, NM_001387241.1:c.52C>T, NM_001387231.1:c.52C>T, NM_001387244.1:c.52C>T, XM_047426541.1:c.157C>T, NM_001387249.1:c.52C>T, XM_047426540.1:c.157C>T, NM_001387256.1:c.157C>T, NM_001387233.1:c.52C>T, XM_047426542.1:c.157C>T, NM_001387248.1:c.52C>T, XM_047426543.1:c.157C>T, NM_001387242.1:c.52C>T, NM_001387236.1:c.52C>T, NM_001387257.1:c.157C>T, NM_001387232.1:c.52C>T, NM_001387237.1:c.52C>T, NR_170611.1:n.395C>T, NM_001387247.1:c.52C>T, NM_001387259.1:c.157C>T, NM_001387243.1:c.52C>T, NM_001387230.1:c.52C>T, NM_001387238.1:c.52C>T, NM_001387239.1:c.52C>T, NM_001387246.1:c.52C>T, NM_001387258.1:c.157C>T, NM_001387255.1:c.157C>T, NM_001387235.1:c.52C>T, NM_001387245.1:c.52C>T, NM_001387234.1:c.52C>T, NM_001387240.1:c.52C>T, NR_170602.1:n.244C>T, XP_006718843.1:p.Leu53Phe, NP_001245172.2:p.Leu18Phe, NP_001074015.1:p.Leu18Phe, NP_001245171.2:p.Leu18Phe, NP_001245175.2:p.Leu18Phe, NP_001245168.2:p.Leu18Phe, NP_001245174.1:p.Leu18Phe, NP_001245169.1:p.Leu18Phe, NP_001245170.1:p.Leu18Phe, NP_001245173.1:p.Leu18Phe, NP_001245176.1:p.Leu18Phe, NP_001245167.1:p.Leu18Phe, NP_001374170.1:p.Leu18Phe, NP_001374160.1:p.Leu18Phe, NP_001374173.1:p.Leu18Phe, XP_047282497.1:p.Leu53Phe, NP_001374178.1:p.Leu18Phe, XP_047282496.1:p.Leu53Phe, NP_001374185.1:p.Leu53Phe, NP_001374162.1:p.Leu18Phe, XP_047282498.1:p.Leu53Phe, NP_001374177.1:p.Leu18Phe, XP_047282499.1:p.Leu53Phe, NP_001374171.1:p.Leu18Phe, NP_001374165.1:p.Leu18Phe, NP_001374186.1:p.Leu53Phe, NP_001374161.1:p.Leu18Phe, NP_001374166.1:p.Leu18Phe, NP_001374176.1:p.Leu18Phe, NP_001374188.1:p.Leu53Phe, NP_001374159.1:p.Leu18Phe, NP_001374167.1:p.Leu18Phe, NP_001374168.1:p.Leu18Phe, NP_001374175.1:p.Leu18Phe, NP_001374187.1:p.Leu53Phe, NP_001374184.1:p.Leu53Phe, NP_001374164.1:p.Leu18Phe, NP_001374174.1:p.Leu18Phe, NP_001374163.1:p.Leu18Phe, NP_001374169.1:p.Leu18Phe

                                      19.

                                      rs1347500269 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:125102157 (GRCh38)
                                        11:124972053 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:125102156:G:A
                                        Gene:
                                        TMEM218 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.125102157G>A, NC_000011.9:g.124972053G>A, XM_006718780.4:c.190C>T, XM_006718780.3:c.190C>T, XM_006718780.2:c.190C>T, XM_006718780.1:c.190C>T, NM_001258243.3:c.85C>T, NM_001258243.2:c.190C>T, NM_001258243.1:c.190C>T, NM_001080546.3:c.85C>T, NM_001080546.2:c.85C>T, NM_001258242.3:c.85C>T, NM_001258242.2:c.190C>T, NM_001258242.1:c.190C>T, NM_001258246.3:c.85C>T, NM_001258246.2:c.190C>T, NM_001258246.1:c.190C>T, NM_001258239.3:c.85C>T, NM_001258239.2:c.190C>T, NM_001258239.1:c.190C>T, NM_001258245.2:c.85C>T, NM_001258245.1:c.85C>T, NM_001258240.2:c.85C>T, NM_001258240.1:c.85C>T, NM_001258241.2:c.85C>T, NM_001258241.1:c.85C>T, NR_047588.2:n.422C>T, NR_047588.1:n.504C>T, NM_001258244.2:c.85C>T, NM_001258244.1:c.85C>T, NR_047590.2:n.359C>T, NR_047590.1:n.441C>T, NM_001258247.2:c.85C>T, NM_001258247.1:c.85C>T, NM_001258238.2:c.85C>T, NM_001258238.1:c.85C>T, NR_047592.2:n.325C>T, NR_047592.1:n.407C>T, NR_047586.2:n.279C>T, NR_047586.1:n.416C>T, NM_001387241.1:c.85C>T, NM_001387231.1:c.85C>T, NM_001387244.1:c.85C>T, XM_047426541.1:c.190C>T, NM_001387249.1:c.85C>T, XM_047426540.1:c.190C>T, NM_001387256.1:c.190C>T, NM_001387233.1:c.85C>T, XM_047426542.1:c.190C>T, NM_001387248.1:c.85C>T, XM_047426543.1:c.190C>T, NM_001387242.1:c.85C>T, NM_001387236.1:c.85C>T, NM_001387257.1:c.190C>T, NM_001387232.1:c.85C>T, NM_001387237.1:c.85C>T, NR_170611.1:n.428C>T, NM_001387247.1:c.85C>T, NM_001387259.1:c.190C>T, NM_001387243.1:c.85C>T, NM_001387230.1:c.85C>T, NM_001387238.1:c.85C>T, NM_001387239.1:c.85C>T, NM_001387246.1:c.85C>T, NM_001387258.1:c.190C>T, NM_001387255.1:c.190C>T, NM_001387235.1:c.85C>T, NM_001387245.1:c.85C>T, NM_001387234.1:c.85C>T, NM_001387240.1:c.85C>T, NR_170602.1:n.277C>T

                                        20.

                                        rs1327316124 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:125102181 (GRCh38)
                                          11:124972077 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:125102180:C:T
                                          Gene:
                                          TMEM218 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000012/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.125102181C>T, NC_000011.9:g.124972077C>T, XM_006718780.4:c.166G>A, XM_006718780.3:c.166G>A, XM_006718780.2:c.166G>A, XM_006718780.1:c.166G>A, NM_001258243.3:c.61G>A, NM_001258243.2:c.166G>A, NM_001258243.1:c.166G>A, NM_001080546.3:c.61G>A, NM_001080546.2:c.61G>A, NM_001258242.3:c.61G>A, NM_001258242.2:c.166G>A, NM_001258242.1:c.166G>A, NM_001258246.3:c.61G>A, NM_001258246.2:c.166G>A, NM_001258246.1:c.166G>A, NM_001258239.3:c.61G>A, NM_001258239.2:c.166G>A, NM_001258239.1:c.166G>A, NM_001258245.2:c.61G>A, NM_001258245.1:c.61G>A, NM_001258240.2:c.61G>A, NM_001258240.1:c.61G>A, NM_001258241.2:c.61G>A, NM_001258241.1:c.61G>A, NR_047588.2:n.398G>A, NR_047588.1:n.480G>A, NM_001258244.2:c.61G>A, NM_001258244.1:c.61G>A, NR_047590.2:n.335G>A, NR_047590.1:n.417G>A, NM_001258247.2:c.61G>A, NM_001258247.1:c.61G>A, NM_001258238.2:c.61G>A, NM_001258238.1:c.61G>A, NR_047592.2:n.301G>A, NR_047592.1:n.383G>A, NR_047586.2:n.255G>A, NR_047586.1:n.392G>A, NM_001387241.1:c.61G>A, NM_001387231.1:c.61G>A, NM_001387244.1:c.61G>A, XM_047426541.1:c.166G>A, NM_001387249.1:c.61G>A, XM_047426540.1:c.166G>A, NM_001387256.1:c.166G>A, NM_001387233.1:c.61G>A, XM_047426542.1:c.166G>A, NM_001387248.1:c.61G>A, XM_047426543.1:c.166G>A, NM_001387242.1:c.61G>A, NM_001387236.1:c.61G>A, NM_001387257.1:c.166G>A, NM_001387232.1:c.61G>A, NM_001387237.1:c.61G>A, NR_170611.1:n.404G>A, NM_001387247.1:c.61G>A, NM_001387259.1:c.166G>A, NM_001387243.1:c.61G>A, NM_001387230.1:c.61G>A, NM_001387238.1:c.61G>A, NM_001387239.1:c.61G>A, NM_001387246.1:c.61G>A, NM_001387258.1:c.166G>A, NM_001387255.1:c.166G>A, NM_001387235.1:c.61G>A, NM_001387245.1:c.61G>A, NM_001387234.1:c.61G>A, NM_001387240.1:c.61G>A, NR_170602.1:n.253G>A, XP_006718843.1:p.Ala56Thr, NP_001245172.2:p.Ala21Thr, NP_001074015.1:p.Ala21Thr, NP_001245171.2:p.Ala21Thr, NP_001245175.2:p.Ala21Thr, NP_001245168.2:p.Ala21Thr, NP_001245174.1:p.Ala21Thr, NP_001245169.1:p.Ala21Thr, NP_001245170.1:p.Ala21Thr, NP_001245173.1:p.Ala21Thr, NP_001245176.1:p.Ala21Thr, NP_001245167.1:p.Ala21Thr, NP_001374170.1:p.Ala21Thr, NP_001374160.1:p.Ala21Thr, NP_001374173.1:p.Ala21Thr, XP_047282497.1:p.Ala56Thr, NP_001374178.1:p.Ala21Thr, XP_047282496.1:p.Ala56Thr, NP_001374185.1:p.Ala56Thr, NP_001374162.1:p.Ala21Thr, XP_047282498.1:p.Ala56Thr, NP_001374177.1:p.Ala21Thr, XP_047282499.1:p.Ala56Thr, NP_001374171.1:p.Ala21Thr, NP_001374165.1:p.Ala21Thr, NP_001374186.1:p.Ala56Thr, NP_001374161.1:p.Ala21Thr, NP_001374166.1:p.Ala21Thr, NP_001374176.1:p.Ala21Thr, NP_001374188.1:p.Ala56Thr, NP_001374159.1:p.Ala21Thr, NP_001374167.1:p.Ala21Thr, NP_001374168.1:p.Ala21Thr, NP_001374175.1:p.Ala21Thr, NP_001374187.1:p.Ala56Thr, NP_001374184.1:p.Ala56Thr, NP_001374164.1:p.Ala21Thr, NP_001374174.1:p.Ala21Thr, NP_001374163.1:p.Ala21Thr, NP_001374169.1:p.Ala21Thr

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