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Items: 1 to 20 of 1003

1.

rs1490492897 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    8:52158931 (GRCh38)
    8:53071491 (GRCh37)
    Canonical SPDI:
    NC_000008.11:52158930:G:T
    Gene:
    ST18 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000008.11:g.52158931G>T, NC_000008.10:g.53071491G>T, NM_014682.3:c.1773C>A, NM_014682.2:c.1773C>A, NM_001352828.2:c.1773C>A, NM_001352828.1:c.1773C>A, NM_001352877.2:c.714C>A, NM_001352877.1:c.714C>A, NM_001352831.2:c.1773C>A, NM_001352831.1:c.1773C>A, NM_001352863.2:c.1668C>A, NM_001352863.1:c.1668C>A, NM_001352837.2:c.1773C>A, NM_001352837.1:c.1773C>A, NM_001352867.2:c.1668C>A, NM_001352867.1:c.1668C>A, NM_001352868.2:c.1668C>A, NM_001352868.1:c.1668C>A, NM_001352827.2:c.1773C>A, NM_001352827.1:c.1773C>A, NM_001352864.2:c.1668C>A, NM_001352864.1:c.1668C>A, NM_001352865.2:c.1668C>A, NM_001352865.1:c.1668C>A, NM_001352878.2:c.714C>A, NM_001352878.1:c.714C>A, NM_001352826.2:c.1773C>A, NM_001352826.1:c.1773C>A, NM_001352857.2:c.1773C>A, NM_001352857.1:c.1773C>A, NM_001352850.2:c.1773C>A, NM_001352850.1:c.1773C>A, NM_001352846.2:c.1773C>A, NM_001352846.1:c.1773C>A, XM_017014058.2:c.1773C>A, XM_017014058.1:c.1773C>A, NM_001352861.2:c.1668C>A, NM_001352861.1:c.1668C>A, NM_001352853.2:c.1773C>A, NM_001352853.1:c.1773C>A, NM_001352829.2:c.1773C>A, NM_001352829.1:c.1773C>A, NM_001352866.2:c.1668C>A, NM_001352866.1:c.1668C>A, NM_001352843.2:c.1773C>A, NM_001352843.1:c.1773C>A, NM_001352842.2:c.1773C>A, NM_001352842.1:c.1773C>A, NM_001352835.2:c.1773C>A, NM_001352835.1:c.1773C>A, NM_001352869.2:c.1668C>A, NM_001352869.1:c.1668C>A, NM_001352854.2:c.1773C>A, NM_001352854.1:c.1773C>A, NM_001352830.2:c.1773C>A, NM_001352830.1:c.1773C>A, NM_001352838.2:c.1773C>A, NM_001352838.1:c.1773C>A, NM_001352851.2:c.1773C>A, NM_001352851.1:c.1773C>A, NM_001352834.2:c.1773C>A, NM_001352834.1:c.1773C>A, NM_001352832.2:c.1773C>A, NM_001352832.1:c.1773C>A, NM_001352849.2:c.1773C>A, NM_001352849.1:c.1773C>A, NM_001352840.2:c.1773C>A, NM_001352840.1:c.1773C>A, NM_001352845.2:c.1773C>A, NM_001352845.1:c.1773C>A, NM_001352859.2:c.1686C>A, NM_001352859.1:c.1686C>A, NM_001352856.2:c.1773C>A, NM_001352856.1:c.1773C>A, NM_001352841.2:c.1773C>A, NM_001352841.1:c.1773C>A, NM_001352833.2:c.1773C>A, NM_001352833.1:c.1773C>A, NM_001352858.2:c.1686C>A, NM_001352858.1:c.1686C>A, NM_001352844.2:c.1773C>A, NM_001352844.1:c.1773C>A, NM_001352860.2:c.1686C>A, NM_001352860.1:c.1686C>A, NM_001352862.2:c.1668C>A, NM_001352862.1:c.1668C>A, NM_001352875.2:c.1773C>A, NM_001352875.1:c.1773C>A, XM_024447349.2:c.1773C>A, XM_024447349.1:c.1773C>A, NM_001352870.2:c.1773C>A, NM_001352870.1:c.1773C>A, NM_001352847.2:c.1773C>A, NM_001352847.1:c.1773C>A, NM_001352874.2:c.1773C>A, NM_001352874.1:c.1773C>A, NM_001352872.2:c.1773C>A, NM_001352872.1:c.1773C>A, NM_001352855.2:c.1773C>A, NM_001352855.1:c.1773C>A, NM_001352836.2:c.1773C>A, NM_001352836.1:c.1773C>A, NM_001352839.2:c.1773C>A, NM_001352839.1:c.1773C>A, NM_001352852.2:c.1773C>A, NM_001352852.1:c.1773C>A, NM_001352848.2:c.1773C>A, NM_001352848.1:c.1773C>A, NM_001352871.2:c.1773C>A, NM_001352871.1:c.1773C>A, NM_001352873.2:c.1773C>A, NM_001352873.1:c.1773C>A, NM_001352876.2:c.981C>A, NM_001352876.1:c.981C>A, XM_024447350.2:c.714C>A, XM_024447350.1:c.714C>A, XM_047422484.1:c.1773C>A, XM_047422486.1:c.1773C>A, XM_047422485.1:c.1773C>A, XM_047422487.1:c.1773C>A

    2.

    rs1489714764 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      8:52113318 (GRCh38)
      8:53025878 (GRCh37)
      Canonical SPDI:
      NC_000008.11:52113317:A:T
      Gene:
      ST18 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.52113318A>T, NC_000008.10:g.53025878A>T, NM_014682.3:c.3024T>A, NM_014682.2:c.3024T>A, NM_001352828.2:c.3024T>A, NM_001352828.1:c.3024T>A, NM_001352877.2:c.1965T>A, NM_001352877.1:c.1965T>A, NM_001352831.2:c.3024T>A, NM_001352831.1:c.3024T>A, NM_001352863.2:c.2919T>A, NM_001352863.1:c.2919T>A, NM_001352837.2:c.3024T>A, NM_001352837.1:c.3024T>A, NM_001352867.2:c.2919T>A, NM_001352867.1:c.2919T>A, NM_001352868.2:c.2919T>A, NM_001352868.1:c.2919T>A, NM_001352827.2:c.3024T>A, NM_001352827.1:c.3024T>A, NM_001352864.2:c.2919T>A, NM_001352864.1:c.2919T>A, NM_001352865.2:c.2919T>A, NM_001352865.1:c.2919T>A, NM_001352878.2:c.1965T>A, NM_001352878.1:c.1965T>A, NM_001352826.2:c.3024T>A, NM_001352826.1:c.3024T>A, NM_001352857.2:c.3024T>A, NM_001352857.1:c.3024T>A, NM_001352850.2:c.3024T>A, NM_001352850.1:c.3024T>A, NM_001352846.2:c.3024T>A, NM_001352846.1:c.3024T>A, XM_017014058.2:c.3024T>A, XM_017014058.1:c.3024T>A, NM_001352861.2:c.2919T>A, NM_001352861.1:c.2919T>A, NM_001352853.2:c.3024T>A, NM_001352853.1:c.3024T>A, NM_001352829.2:c.3024T>A, NM_001352829.1:c.3024T>A, NM_001352866.2:c.2919T>A, NM_001352866.1:c.2919T>A, NM_001352843.2:c.3024T>A, NM_001352843.1:c.3024T>A, NM_001352842.2:c.3024T>A, NM_001352842.1:c.3024T>A, NM_001352835.2:c.3024T>A, NM_001352835.1:c.3024T>A, NM_001352869.2:c.2919T>A, NM_001352869.1:c.2919T>A, NM_001352854.2:c.3024T>A, NM_001352854.1:c.3024T>A, NM_001352830.2:c.3024T>A, NM_001352830.1:c.3024T>A, NM_001352838.2:c.3024T>A, NM_001352838.1:c.3024T>A, NM_001352851.2:c.3024T>A, NM_001352851.1:c.3024T>A, NM_001352834.2:c.3024T>A, NM_001352834.1:c.3024T>A, NM_001352832.2:c.3024T>A, NM_001352832.1:c.3024T>A, NM_001352849.2:c.3024T>A, NM_001352849.1:c.3024T>A, NM_001352840.2:c.3024T>A, NM_001352840.1:c.3024T>A, NM_001352845.2:c.3024T>A, NM_001352845.1:c.3024T>A, NM_001352859.2:c.2937T>A, NM_001352859.1:c.2937T>A, NM_001352856.2:c.3024T>A, NM_001352856.1:c.3024T>A, NM_001352841.2:c.3024T>A, NM_001352841.1:c.3024T>A, NM_001352833.2:c.3024T>A, NM_001352833.1:c.3024T>A, NM_001352858.2:c.2937T>A, NM_001352858.1:c.2937T>A, NM_001352844.2:c.3024T>A, NM_001352844.1:c.3024T>A, NM_001352860.2:c.2937T>A, NM_001352860.1:c.2937T>A, NM_001352862.2:c.2919T>A, NM_001352862.1:c.2919T>A, NM_001352875.2:c.2778T>A, NM_001352875.1:c.2778T>A, XM_024447349.2:c.3024T>A, XM_024447349.1:c.3024T>A, NM_001352870.2:c.2778T>A, NM_001352870.1:c.2778T>A, NM_001352847.2:c.3024T>A, NM_001352847.1:c.3024T>A, NM_001352874.2:c.2778T>A, NM_001352874.1:c.2778T>A, NM_001352872.2:c.2778T>A, NM_001352872.1:c.2778T>A, NM_001352855.2:c.3024T>A, NM_001352855.1:c.3024T>A, NM_001352836.2:c.3024T>A, NM_001352836.1:c.3024T>A, NM_001352839.2:c.3024T>A, NM_001352839.1:c.3024T>A, NM_001352852.2:c.3024T>A, NM_001352852.1:c.3024T>A, NM_001352848.2:c.3024T>A, NM_001352848.1:c.3024T>A, NM_001352871.2:c.2778T>A, NM_001352871.1:c.2778T>A, NM_001352873.2:c.2778T>A, NM_001352873.1:c.2778T>A, NM_001352876.2:c.1986T>A, NM_001352876.1:c.1986T>A, XM_024447350.2:c.1965T>A, XM_024447350.1:c.1965T>A, XM_047422484.1:c.3024T>A, XM_047422486.1:c.2778T>A, XM_047422485.1:c.2778T>A, XM_047422487.1:c.2778T>A, NP_055497.1:p.Asn1008Lys, NP_001339757.1:p.Asn1008Lys, NP_001339806.1:p.Asn655Lys, NP_001339760.1:p.Asn1008Lys, NP_001339792.1:p.Asn973Lys, NP_001339766.1:p.Asn1008Lys, NP_001339796.1:p.Asn973Lys, NP_001339797.1:p.Asn973Lys, NP_001339756.1:p.Asn1008Lys, NP_001339793.1:p.Asn973Lys, NP_001339794.1:p.Asn973Lys, NP_001339807.1:p.Asn655Lys, NP_001339755.1:p.Asn1008Lys, NP_001339786.1:p.Asn1008Lys, NP_001339779.1:p.Asn1008Lys, NP_001339775.1:p.Asn1008Lys, XP_016869547.1:p.Asn1008Lys, NP_001339790.1:p.Asn973Lys, NP_001339782.1:p.Asn1008Lys, NP_001339758.1:p.Asn1008Lys, NP_001339795.1:p.Asn973Lys, NP_001339772.1:p.Asn1008Lys, NP_001339771.1:p.Asn1008Lys, NP_001339764.1:p.Asn1008Lys, NP_001339798.1:p.Asn973Lys, NP_001339783.1:p.Asn1008Lys, NP_001339759.1:p.Asn1008Lys, NP_001339767.1:p.Asn1008Lys, NP_001339780.1:p.Asn1008Lys, NP_001339763.1:p.Asn1008Lys, NP_001339761.1:p.Asn1008Lys, NP_001339778.1:p.Asn1008Lys, NP_001339769.1:p.Asn1008Lys, NP_001339774.1:p.Asn1008Lys, NP_001339788.1:p.Asn979Lys, NP_001339785.1:p.Asn1008Lys, NP_001339770.1:p.Asn1008Lys, NP_001339762.1:p.Asn1008Lys, NP_001339787.1:p.Asn979Lys, NP_001339773.1:p.Asn1008Lys, NP_001339789.1:p.Asn979Lys, NP_001339791.1:p.Asn973Lys, NP_001339804.1:p.Asn926Lys, XP_024303117.1:p.Asn1008Lys, NP_001339799.1:p.Asn926Lys, NP_001339776.1:p.Asn1008Lys, NP_001339803.1:p.Asn926Lys, NP_001339801.1:p.Asn926Lys, NP_001339784.1:p.Asn1008Lys, NP_001339765.1:p.Asn1008Lys, NP_001339768.1:p.Asn1008Lys, NP_001339781.1:p.Asn1008Lys, NP_001339777.1:p.Asn1008Lys, NP_001339800.1:p.Asn926Lys, NP_001339802.1:p.Asn926Lys, NP_001339805.1:p.Asn662Lys, XP_024303118.1:p.Asn655Lys, XP_047278440.1:p.Asn1008Lys, XP_047278442.1:p.Asn926Lys, XP_047278441.1:p.Asn926Lys, XP_047278443.1:p.Asn926Lys

      3.

      rs1488275190 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:52126100 (GRCh38)
        8:53038660 (GRCh37)
        Canonical SPDI:
        NC_000008.11:52126099:C:T
        Gene:
        ST18 (Varview), LOC124901945 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.52126100C>T, NC_000008.10:g.53038660C>T, NM_014682.3:c.2707G>A, NM_014682.2:c.2707G>A, NM_001352828.2:c.2707G>A, NM_001352828.1:c.2707G>A, NM_001352877.2:c.1648G>A, NM_001352877.1:c.1648G>A, NM_001352831.2:c.2707G>A, NM_001352831.1:c.2707G>A, NM_001352863.2:c.2602G>A, NM_001352863.1:c.2602G>A, NM_001352837.2:c.2707G>A, NM_001352837.1:c.2707G>A, NM_001352867.2:c.2602G>A, NM_001352867.1:c.2602G>A, NM_001352868.2:c.2602G>A, NM_001352868.1:c.2602G>A, NM_001352827.2:c.2707G>A, NM_001352827.1:c.2707G>A, NM_001352864.2:c.2602G>A, NM_001352864.1:c.2602G>A, NM_001352865.2:c.2602G>A, NM_001352865.1:c.2602G>A, NM_001352878.2:c.1648G>A, NM_001352878.1:c.1648G>A, NM_001352826.2:c.2707G>A, NM_001352826.1:c.2707G>A, NM_001352857.2:c.2707G>A, NM_001352857.1:c.2707G>A, NM_001352850.2:c.2707G>A, NM_001352850.1:c.2707G>A, NM_001352846.2:c.2707G>A, NM_001352846.1:c.2707G>A, XM_017014058.2:c.2707G>A, XM_017014058.1:c.2707G>A, NM_001352861.2:c.2602G>A, NM_001352861.1:c.2602G>A, NM_001352853.2:c.2707G>A, NM_001352853.1:c.2707G>A, NM_001352829.2:c.2707G>A, NM_001352829.1:c.2707G>A, NM_001352866.2:c.2602G>A, NM_001352866.1:c.2602G>A, NM_001352843.2:c.2707G>A, NM_001352843.1:c.2707G>A, NM_001352842.2:c.2707G>A, NM_001352842.1:c.2707G>A, NM_001352835.2:c.2707G>A, NM_001352835.1:c.2707G>A, NM_001352869.2:c.2602G>A, NM_001352869.1:c.2602G>A, NM_001352854.2:c.2707G>A, NM_001352854.1:c.2707G>A, NM_001352830.2:c.2707G>A, NM_001352830.1:c.2707G>A, NM_001352838.2:c.2707G>A, NM_001352838.1:c.2707G>A, NM_001352851.2:c.2707G>A, NM_001352851.1:c.2707G>A, NM_001352834.2:c.2707G>A, NM_001352834.1:c.2707G>A, NM_001352832.2:c.2707G>A, NM_001352832.1:c.2707G>A, NM_001352849.2:c.2707G>A, NM_001352849.1:c.2707G>A, NM_001352840.2:c.2707G>A, NM_001352840.1:c.2707G>A, NM_001352845.2:c.2707G>A, NM_001352845.1:c.2707G>A, NM_001352859.2:c.2620G>A, NM_001352859.1:c.2620G>A, NM_001352856.2:c.2707G>A, NM_001352856.1:c.2707G>A, NM_001352841.2:c.2707G>A, NM_001352841.1:c.2707G>A, NM_001352833.2:c.2707G>A, NM_001352833.1:c.2707G>A, NM_001352858.2:c.2620G>A, NM_001352858.1:c.2620G>A, NM_001352844.2:c.2707G>A, NM_001352844.1:c.2707G>A, NM_001352860.2:c.2620G>A, NM_001352860.1:c.2620G>A, NM_001352862.2:c.2602G>A, NM_001352862.1:c.2602G>A, NM_001352875.2:c.2461G>A, NM_001352875.1:c.2461G>A, XM_024447349.2:c.2707G>A, XM_024447349.1:c.2707G>A, NM_001352870.2:c.2461G>A, NM_001352870.1:c.2461G>A, NM_001352847.2:c.2707G>A, NM_001352847.1:c.2707G>A, NM_001352874.2:c.2461G>A, NM_001352874.1:c.2461G>A, NM_001352872.2:c.2461G>A, NM_001352872.1:c.2461G>A, NM_001352855.2:c.2707G>A, NM_001352855.1:c.2707G>A, NM_001352836.2:c.2707G>A, NM_001352836.1:c.2707G>A, NM_001352839.2:c.2707G>A, NM_001352839.1:c.2707G>A, NM_001352852.2:c.2707G>A, NM_001352852.1:c.2707G>A, NM_001352848.2:c.2707G>A, NM_001352848.1:c.2707G>A, NM_001352871.2:c.2461G>A, NM_001352871.1:c.2461G>A, NM_001352873.2:c.2461G>A, NM_001352873.1:c.2461G>A, NM_001352876.2:c.1669G>A, NM_001352876.1:c.1669G>A, XM_024447350.2:c.1648G>A, XM_024447350.1:c.1648G>A, XM_047422484.1:c.2707G>A, XM_047422486.1:c.2461G>A, XM_047422485.1:c.2461G>A, XM_047422487.1:c.2461G>A, XR_007060911.1:n.5311C>T, NP_055497.1:p.Gly903Ser, NP_001339757.1:p.Gly903Ser, NP_001339806.1:p.Gly550Ser, NP_001339760.1:p.Gly903Ser, NP_001339792.1:p.Gly868Ser, NP_001339766.1:p.Gly903Ser, NP_001339796.1:p.Gly868Ser, NP_001339797.1:p.Gly868Ser, NP_001339756.1:p.Gly903Ser, NP_001339793.1:p.Gly868Ser, NP_001339794.1:p.Gly868Ser, NP_001339807.1:p.Gly550Ser, NP_001339755.1:p.Gly903Ser, NP_001339786.1:p.Gly903Ser, NP_001339779.1:p.Gly903Ser, NP_001339775.1:p.Gly903Ser, XP_016869547.1:p.Gly903Ser, NP_001339790.1:p.Gly868Ser, NP_001339782.1:p.Gly903Ser, NP_001339758.1:p.Gly903Ser, NP_001339795.1:p.Gly868Ser, NP_001339772.1:p.Gly903Ser, NP_001339771.1:p.Gly903Ser, NP_001339764.1:p.Gly903Ser, NP_001339798.1:p.Gly868Ser, NP_001339783.1:p.Gly903Ser, NP_001339759.1:p.Gly903Ser, NP_001339767.1:p.Gly903Ser, NP_001339780.1:p.Gly903Ser, NP_001339763.1:p.Gly903Ser, NP_001339761.1:p.Gly903Ser, NP_001339778.1:p.Gly903Ser, NP_001339769.1:p.Gly903Ser, NP_001339774.1:p.Gly903Ser, NP_001339788.1:p.Gly874Ser, NP_001339785.1:p.Gly903Ser, NP_001339770.1:p.Gly903Ser, NP_001339762.1:p.Gly903Ser, NP_001339787.1:p.Gly874Ser, NP_001339773.1:p.Gly903Ser, NP_001339789.1:p.Gly874Ser, NP_001339791.1:p.Gly868Ser, NP_001339804.1:p.Gly821Ser, XP_024303117.1:p.Gly903Ser, NP_001339799.1:p.Gly821Ser, NP_001339776.1:p.Gly903Ser, NP_001339803.1:p.Gly821Ser, NP_001339801.1:p.Gly821Ser, NP_001339784.1:p.Gly903Ser, NP_001339765.1:p.Gly903Ser, NP_001339768.1:p.Gly903Ser, NP_001339781.1:p.Gly903Ser, NP_001339777.1:p.Gly903Ser, NP_001339800.1:p.Gly821Ser, NP_001339802.1:p.Gly821Ser, NP_001339805.1:p.Gly557Ser, XP_024303118.1:p.Gly550Ser, XP_047278440.1:p.Gly903Ser, XP_047278442.1:p.Gly821Ser, XP_047278441.1:p.Gly821Ser, XP_047278443.1:p.Gly821Ser

        4.

        rs1487257635 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:52172321 (GRCh38)
          8:53084881 (GRCh37)
          Canonical SPDI:
          NC_000008.11:52172320:A:G
          Gene:
          ST18 (Varview)
          Functional Consequence:
          synonymous_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000008.11:g.52172321A>G, NC_000008.10:g.53084881A>G, NM_014682.3:c.540T>C, NM_014682.2:c.540T>C, NM_001352828.2:c.540T>C, NM_001352828.1:c.540T>C, NM_001352877.2:c.-575T>C, NM_001352877.1:c.-575T>C, NM_001352831.2:c.540T>C, NM_001352831.1:c.540T>C, NM_001352863.2:c.435T>C, NM_001352863.1:c.435T>C, NM_001352837.2:c.540T>C, NM_001352837.1:c.540T>C, NM_001352867.2:c.435T>C, NM_001352867.1:c.435T>C, NM_001352868.2:c.435T>C, NM_001352868.1:c.435T>C, NM_001352827.2:c.540T>C, NM_001352827.1:c.540T>C, NM_001352864.2:c.435T>C, NM_001352864.1:c.435T>C, NM_001352865.2:c.435T>C, NM_001352865.1:c.435T>C, NM_001352878.2:c.-575T>C, NM_001352878.1:c.-575T>C, NM_001352826.2:c.540T>C, NM_001352826.1:c.540T>C, NM_001352857.2:c.540T>C, NM_001352857.1:c.540T>C, NM_001352850.2:c.540T>C, NM_001352850.1:c.540T>C, NM_001352846.2:c.540T>C, NM_001352846.1:c.540T>C, XM_017014058.2:c.540T>C, XM_017014058.1:c.540T>C, NM_001352861.2:c.435T>C, NM_001352861.1:c.435T>C, NM_001352853.2:c.540T>C, NM_001352853.1:c.540T>C, NM_001352829.2:c.540T>C, NM_001352829.1:c.540T>C, NM_001352866.2:c.435T>C, NM_001352866.1:c.435T>C, NM_001352843.2:c.540T>C, NM_001352843.1:c.540T>C, NM_001352842.2:c.540T>C, NM_001352842.1:c.540T>C, NM_001352835.2:c.540T>C, NM_001352835.1:c.540T>C, NM_001352869.2:c.435T>C, NM_001352869.1:c.435T>C, NM_001352854.2:c.540T>C, NM_001352854.1:c.540T>C, NM_001352830.2:c.540T>C, NM_001352830.1:c.540T>C, NM_001352838.2:c.540T>C, NM_001352838.1:c.540T>C, NM_001352851.2:c.540T>C, NM_001352851.1:c.540T>C, NM_001352834.2:c.540T>C, NM_001352834.1:c.540T>C, NM_001352832.2:c.540T>C, NM_001352832.1:c.540T>C, NM_001352849.2:c.540T>C, NM_001352849.1:c.540T>C, NM_001352840.2:c.540T>C, NM_001352840.1:c.540T>C, NM_001352845.2:c.540T>C, NM_001352845.1:c.540T>C, NM_001352859.2:c.540T>C, NM_001352859.1:c.540T>C, NM_001352856.2:c.540T>C, NM_001352856.1:c.540T>C, NM_001352841.2:c.540T>C, NM_001352841.1:c.540T>C, NM_001352833.2:c.540T>C, NM_001352833.1:c.540T>C, NM_001352858.2:c.540T>C, NM_001352858.1:c.540T>C, NM_001352844.2:c.540T>C, NM_001352844.1:c.540T>C, NM_001352860.2:c.540T>C, NM_001352860.1:c.540T>C, NM_001352862.2:c.435T>C, NM_001352862.1:c.435T>C, NM_001352875.2:c.540T>C, NM_001352875.1:c.540T>C, XM_024447349.2:c.540T>C, XM_024447349.1:c.540T>C, NM_001352870.2:c.540T>C, NM_001352870.1:c.540T>C, NM_001352847.2:c.540T>C, NM_001352847.1:c.540T>C, NM_001352874.2:c.540T>C, NM_001352874.1:c.540T>C, NM_001352872.2:c.540T>C, NM_001352872.1:c.540T>C, NM_001352855.2:c.540T>C, NM_001352855.1:c.540T>C, NM_001352836.2:c.540T>C, NM_001352836.1:c.540T>C, NM_001352839.2:c.540T>C, NM_001352839.1:c.540T>C, NM_001352852.2:c.540T>C, NM_001352852.1:c.540T>C, NM_001352848.2:c.540T>C, NM_001352848.1:c.540T>C, NM_001352871.2:c.540T>C, NM_001352871.1:c.540T>C, NM_001352873.2:c.540T>C, NM_001352873.1:c.540T>C, XM_047422484.1:c.540T>C, XM_047422486.1:c.540T>C, XM_047422485.1:c.540T>C, XM_047422487.1:c.540T>C

          5.

          rs1485005592 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:52133257 (GRCh38)
            8:53045817 (GRCh37)
            Canonical SPDI:
            NC_000008.11:52133256:T:C
            Gene:
            ST18 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000011/3 (TOPMED)
            HGVS:
            NC_000008.11:g.52133257T>C, NC_000008.10:g.53045817T>C, NM_014682.3:c.2345A>G, NM_014682.2:c.2345A>G, NM_001352828.2:c.2345A>G, NM_001352828.1:c.2345A>G, NM_001352877.2:c.1286A>G, NM_001352877.1:c.1286A>G, NM_001352831.2:c.2345A>G, NM_001352831.1:c.2345A>G, NM_001352863.2:c.2240A>G, NM_001352863.1:c.2240A>G, NM_001352837.2:c.2345A>G, NM_001352837.1:c.2345A>G, NM_001352867.2:c.2240A>G, NM_001352867.1:c.2240A>G, NM_001352868.2:c.2240A>G, NM_001352868.1:c.2240A>G, NM_001352827.2:c.2345A>G, NM_001352827.1:c.2345A>G, NM_001352864.2:c.2240A>G, NM_001352864.1:c.2240A>G, NM_001352865.2:c.2240A>G, NM_001352865.1:c.2240A>G, NM_001352878.2:c.1286A>G, NM_001352878.1:c.1286A>G, NM_001352826.2:c.2345A>G, NM_001352826.1:c.2345A>G, NM_001352857.2:c.2345A>G, NM_001352857.1:c.2345A>G, NM_001352850.2:c.2345A>G, NM_001352850.1:c.2345A>G, NM_001352846.2:c.2345A>G, NM_001352846.1:c.2345A>G, XM_017014058.2:c.2345A>G, XM_017014058.1:c.2345A>G, NM_001352861.2:c.2240A>G, NM_001352861.1:c.2240A>G, NM_001352853.2:c.2345A>G, NM_001352853.1:c.2345A>G, NM_001352829.2:c.2345A>G, NM_001352829.1:c.2345A>G, NM_001352866.2:c.2240A>G, NM_001352866.1:c.2240A>G, NM_001352843.2:c.2345A>G, NM_001352843.1:c.2345A>G, NM_001352842.2:c.2345A>G, NM_001352842.1:c.2345A>G, NM_001352835.2:c.2345A>G, NM_001352835.1:c.2345A>G, NM_001352869.2:c.2240A>G, NM_001352869.1:c.2240A>G, NM_001352854.2:c.2345A>G, NM_001352854.1:c.2345A>G, NM_001352830.2:c.2345A>G, NM_001352830.1:c.2345A>G, NM_001352838.2:c.2345A>G, NM_001352838.1:c.2345A>G, NM_001352851.2:c.2345A>G, NM_001352851.1:c.2345A>G, NM_001352834.2:c.2345A>G, NM_001352834.1:c.2345A>G, NM_001352832.2:c.2345A>G, NM_001352832.1:c.2345A>G, NM_001352849.2:c.2345A>G, NM_001352849.1:c.2345A>G, NM_001352840.2:c.2345A>G, NM_001352840.1:c.2345A>G, NM_001352845.2:c.2345A>G, NM_001352845.1:c.2345A>G, NM_001352859.2:c.2258A>G, NM_001352859.1:c.2258A>G, NM_001352856.2:c.2345A>G, NM_001352856.1:c.2345A>G, NM_001352841.2:c.2345A>G, NM_001352841.1:c.2345A>G, NM_001352833.2:c.2345A>G, NM_001352833.1:c.2345A>G, NM_001352858.2:c.2258A>G, NM_001352858.1:c.2258A>G, NM_001352844.2:c.2345A>G, NM_001352844.1:c.2345A>G, NM_001352860.2:c.2258A>G, NM_001352860.1:c.2258A>G, NM_001352862.2:c.2240A>G, NM_001352862.1:c.2240A>G, NM_001352875.2:c.2099A>G, NM_001352875.1:c.2099A>G, XM_024447349.2:c.2345A>G, XM_024447349.1:c.2345A>G, NM_001352870.2:c.2099A>G, NM_001352870.1:c.2099A>G, NM_001352847.2:c.2345A>G, NM_001352847.1:c.2345A>G, NM_001352874.2:c.2099A>G, NM_001352874.1:c.2099A>G, NM_001352872.2:c.2099A>G, NM_001352872.1:c.2099A>G, NM_001352855.2:c.2345A>G, NM_001352855.1:c.2345A>G, NM_001352836.2:c.2345A>G, NM_001352836.1:c.2345A>G, NM_001352839.2:c.2345A>G, NM_001352839.1:c.2345A>G, NM_001352852.2:c.2345A>G, NM_001352852.1:c.2345A>G, NM_001352848.2:c.2345A>G, NM_001352848.1:c.2345A>G, NM_001352871.2:c.2099A>G, NM_001352871.1:c.2099A>G, NM_001352873.2:c.2099A>G, NM_001352873.1:c.2099A>G, NM_001352876.2:c.1307A>G, NM_001352876.1:c.1307A>G, XM_024447350.2:c.1286A>G, XM_024447350.1:c.1286A>G, XM_047422484.1:c.2345A>G, XM_047422486.1:c.2099A>G, XM_047422485.1:c.2099A>G, XM_047422487.1:c.2099A>G, NP_055497.1:p.Asn782Ser, NP_001339757.1:p.Asn782Ser, NP_001339806.1:p.Asn429Ser, NP_001339760.1:p.Asn782Ser, NP_001339792.1:p.Asn747Ser, NP_001339766.1:p.Asn782Ser, NP_001339796.1:p.Asn747Ser, NP_001339797.1:p.Asn747Ser, NP_001339756.1:p.Asn782Ser, NP_001339793.1:p.Asn747Ser, NP_001339794.1:p.Asn747Ser, NP_001339807.1:p.Asn429Ser, NP_001339755.1:p.Asn782Ser, NP_001339786.1:p.Asn782Ser, NP_001339779.1:p.Asn782Ser, NP_001339775.1:p.Asn782Ser, XP_016869547.1:p.Asn782Ser, NP_001339790.1:p.Asn747Ser, NP_001339782.1:p.Asn782Ser, NP_001339758.1:p.Asn782Ser, NP_001339795.1:p.Asn747Ser, NP_001339772.1:p.Asn782Ser, NP_001339771.1:p.Asn782Ser, NP_001339764.1:p.Asn782Ser, NP_001339798.1:p.Asn747Ser, NP_001339783.1:p.Asn782Ser, NP_001339759.1:p.Asn782Ser, NP_001339767.1:p.Asn782Ser, NP_001339780.1:p.Asn782Ser, NP_001339763.1:p.Asn782Ser, NP_001339761.1:p.Asn782Ser, NP_001339778.1:p.Asn782Ser, NP_001339769.1:p.Asn782Ser, NP_001339774.1:p.Asn782Ser, NP_001339788.1:p.Asn753Ser, NP_001339785.1:p.Asn782Ser, NP_001339770.1:p.Asn782Ser, NP_001339762.1:p.Asn782Ser, NP_001339787.1:p.Asn753Ser, NP_001339773.1:p.Asn782Ser, NP_001339789.1:p.Asn753Ser, NP_001339791.1:p.Asn747Ser, NP_001339804.1:p.Asn700Ser, XP_024303117.1:p.Asn782Ser, NP_001339799.1:p.Asn700Ser, NP_001339776.1:p.Asn782Ser, NP_001339803.1:p.Asn700Ser, NP_001339801.1:p.Asn700Ser, NP_001339784.1:p.Asn782Ser, NP_001339765.1:p.Asn782Ser, NP_001339768.1:p.Asn782Ser, NP_001339781.1:p.Asn782Ser, NP_001339777.1:p.Asn782Ser, NP_001339800.1:p.Asn700Ser, NP_001339802.1:p.Asn700Ser, NP_001339805.1:p.Asn436Ser, XP_024303118.1:p.Asn429Ser, XP_047278440.1:p.Asn782Ser, XP_047278442.1:p.Asn700Ser, XP_047278441.1:p.Asn700Ser, XP_047278443.1:p.Asn700Ser

            6.

            rs1482709822 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:52171937 (GRCh38)
              8:53084497 (GRCh37)
              Canonical SPDI:
              NC_000008.11:52171936:C:T
              Gene:
              ST18 (Varview)
              Functional Consequence:
              synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.52171937C>T, NC_000008.10:g.53084497C>T, NM_014682.3:c.924G>A, NM_014682.2:c.924G>A, NM_001352828.2:c.924G>A, NM_001352828.1:c.924G>A, NM_001352877.2:c.-191G>A, NM_001352877.1:c.-191G>A, NM_001352831.2:c.924G>A, NM_001352831.1:c.924G>A, NM_001352863.2:c.819G>A, NM_001352863.1:c.819G>A, NM_001352837.2:c.924G>A, NM_001352837.1:c.924G>A, NM_001352867.2:c.819G>A, NM_001352867.1:c.819G>A, NM_001352868.2:c.819G>A, NM_001352868.1:c.819G>A, NM_001352827.2:c.924G>A, NM_001352827.1:c.924G>A, NM_001352864.2:c.819G>A, NM_001352864.1:c.819G>A, NM_001352865.2:c.819G>A, NM_001352865.1:c.819G>A, NM_001352878.2:c.-191G>A, NM_001352878.1:c.-191G>A, NM_001352826.2:c.924G>A, NM_001352826.1:c.924G>A, NM_001352857.2:c.924G>A, NM_001352857.1:c.924G>A, NM_001352850.2:c.924G>A, NM_001352850.1:c.924G>A, NM_001352846.2:c.924G>A, NM_001352846.1:c.924G>A, XM_017014058.2:c.924G>A, XM_017014058.1:c.924G>A, NM_001352861.2:c.819G>A, NM_001352861.1:c.819G>A, NM_001352853.2:c.924G>A, NM_001352853.1:c.924G>A, NM_001352829.2:c.924G>A, NM_001352829.1:c.924G>A, NM_001352866.2:c.819G>A, NM_001352866.1:c.819G>A, NM_001352843.2:c.924G>A, NM_001352843.1:c.924G>A, NM_001352842.2:c.924G>A, NM_001352842.1:c.924G>A, NM_001352835.2:c.924G>A, NM_001352835.1:c.924G>A, NM_001352869.2:c.819G>A, NM_001352869.1:c.819G>A, NM_001352854.2:c.924G>A, NM_001352854.1:c.924G>A, NM_001352830.2:c.924G>A, NM_001352830.1:c.924G>A, NM_001352838.2:c.924G>A, NM_001352838.1:c.924G>A, NM_001352851.2:c.924G>A, NM_001352851.1:c.924G>A, NM_001352834.2:c.924G>A, NM_001352834.1:c.924G>A, NM_001352832.2:c.924G>A, NM_001352832.1:c.924G>A, NM_001352849.2:c.924G>A, NM_001352849.1:c.924G>A, NM_001352840.2:c.924G>A, NM_001352840.1:c.924G>A, NM_001352845.2:c.924G>A, NM_001352845.1:c.924G>A, NM_001352859.2:c.837G>A, NM_001352859.1:c.837G>A, NM_001352856.2:c.924G>A, NM_001352856.1:c.924G>A, NM_001352841.2:c.924G>A, NM_001352841.1:c.924G>A, NM_001352833.2:c.924G>A, NM_001352833.1:c.924G>A, NM_001352858.2:c.837G>A, NM_001352858.1:c.837G>A, NM_001352844.2:c.924G>A, NM_001352844.1:c.924G>A, NM_001352860.2:c.837G>A, NM_001352860.1:c.837G>A, NM_001352862.2:c.819G>A, NM_001352862.1:c.819G>A, NM_001352875.2:c.924G>A, NM_001352875.1:c.924G>A, XM_024447349.2:c.924G>A, XM_024447349.1:c.924G>A, NM_001352870.2:c.924G>A, NM_001352870.1:c.924G>A, NM_001352847.2:c.924G>A, NM_001352847.1:c.924G>A, NM_001352874.2:c.924G>A, NM_001352874.1:c.924G>A, NM_001352872.2:c.924G>A, NM_001352872.1:c.924G>A, NM_001352855.2:c.924G>A, NM_001352855.1:c.924G>A, NM_001352836.2:c.924G>A, NM_001352836.1:c.924G>A, NM_001352839.2:c.924G>A, NM_001352839.1:c.924G>A, NM_001352852.2:c.924G>A, NM_001352852.1:c.924G>A, NM_001352848.2:c.924G>A, NM_001352848.1:c.924G>A, NM_001352871.2:c.924G>A, NM_001352871.1:c.924G>A, NM_001352873.2:c.924G>A, NM_001352873.1:c.924G>A, XM_047422484.1:c.924G>A, XM_047422486.1:c.924G>A, XM_047422485.1:c.924G>A, XM_047422487.1:c.924G>A

              7.

              rs1482464636 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:52172042 (GRCh38)
                8:53084602 (GRCh37)
                Canonical SPDI:
                NC_000008.11:52172041:G:A
                Gene:
                ST18 (Varview)
                Functional Consequence:
                synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000008.11:g.52172042G>A, NC_000008.10:g.53084602G>A, NM_014682.3:c.819C>T, NM_014682.2:c.819C>T, NM_001352828.2:c.819C>T, NM_001352828.1:c.819C>T, NM_001352877.2:c.-296C>T, NM_001352877.1:c.-296C>T, NM_001352831.2:c.819C>T, NM_001352831.1:c.819C>T, NM_001352863.2:c.714C>T, NM_001352863.1:c.714C>T, NM_001352837.2:c.819C>T, NM_001352837.1:c.819C>T, NM_001352867.2:c.714C>T, NM_001352867.1:c.714C>T, NM_001352868.2:c.714C>T, NM_001352868.1:c.714C>T, NM_001352827.2:c.819C>T, NM_001352827.1:c.819C>T, NM_001352864.2:c.714C>T, NM_001352864.1:c.714C>T, NM_001352865.2:c.714C>T, NM_001352865.1:c.714C>T, NM_001352878.2:c.-296C>T, NM_001352878.1:c.-296C>T, NM_001352826.2:c.819C>T, NM_001352826.1:c.819C>T, NM_001352857.2:c.819C>T, NM_001352857.1:c.819C>T, NM_001352850.2:c.819C>T, NM_001352850.1:c.819C>T, NM_001352846.2:c.819C>T, NM_001352846.1:c.819C>T, XM_017014058.2:c.819C>T, XM_017014058.1:c.819C>T, NM_001352861.2:c.714C>T, NM_001352861.1:c.714C>T, NM_001352853.2:c.819C>T, NM_001352853.1:c.819C>T, NM_001352829.2:c.819C>T, NM_001352829.1:c.819C>T, NM_001352866.2:c.714C>T, NM_001352866.1:c.714C>T, NM_001352843.2:c.819C>T, NM_001352843.1:c.819C>T, NM_001352842.2:c.819C>T, NM_001352842.1:c.819C>T, NM_001352835.2:c.819C>T, NM_001352835.1:c.819C>T, NM_001352869.2:c.714C>T, NM_001352869.1:c.714C>T, NM_001352854.2:c.819C>T, NM_001352854.1:c.819C>T, NM_001352830.2:c.819C>T, NM_001352830.1:c.819C>T, NM_001352838.2:c.819C>T, NM_001352838.1:c.819C>T, NM_001352851.2:c.819C>T, NM_001352851.1:c.819C>T, NM_001352834.2:c.819C>T, NM_001352834.1:c.819C>T, NM_001352832.2:c.819C>T, NM_001352832.1:c.819C>T, NM_001352849.2:c.819C>T, NM_001352849.1:c.819C>T, NM_001352840.2:c.819C>T, NM_001352840.1:c.819C>T, NM_001352845.2:c.819C>T, NM_001352845.1:c.819C>T, NM_001352859.2:c.732C>T, NM_001352859.1:c.732C>T, NM_001352856.2:c.819C>T, NM_001352856.1:c.819C>T, NM_001352841.2:c.819C>T, NM_001352841.1:c.819C>T, NM_001352833.2:c.819C>T, NM_001352833.1:c.819C>T, NM_001352858.2:c.732C>T, NM_001352858.1:c.732C>T, NM_001352844.2:c.819C>T, NM_001352844.1:c.819C>T, NM_001352860.2:c.732C>T, NM_001352860.1:c.732C>T, NM_001352862.2:c.714C>T, NM_001352862.1:c.714C>T, NM_001352875.2:c.819C>T, NM_001352875.1:c.819C>T, XM_024447349.2:c.819C>T, XM_024447349.1:c.819C>T, NM_001352870.2:c.819C>T, NM_001352870.1:c.819C>T, NM_001352847.2:c.819C>T, NM_001352847.1:c.819C>T, NM_001352874.2:c.819C>T, NM_001352874.1:c.819C>T, NM_001352872.2:c.819C>T, NM_001352872.1:c.819C>T, NM_001352855.2:c.819C>T, NM_001352855.1:c.819C>T, NM_001352836.2:c.819C>T, NM_001352836.1:c.819C>T, NM_001352839.2:c.819C>T, NM_001352839.1:c.819C>T, NM_001352852.2:c.819C>T, NM_001352852.1:c.819C>T, NM_001352848.2:c.819C>T, NM_001352848.1:c.819C>T, NM_001352871.2:c.819C>T, NM_001352871.1:c.819C>T, NM_001352873.2:c.819C>T, NM_001352873.1:c.819C>T, XM_047422484.1:c.819C>T, XM_047422486.1:c.819C>T, XM_047422485.1:c.819C>T, XM_047422487.1:c.819C>T

                8.

                rs1480115006 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AGG [Show Flanks]
                  Chromosome:
                  8:52172039 (GRCh38)
                  8:53084600 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:52172039:GAGG:GAGGAGG
                  Gene:
                  ST18 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,inframe_insertion,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  GAG=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.52172041_52172043dup, NC_000008.10:g.53084601_53084603dup, NM_014682.3:c.819_821dup, NM_014682.2:c.819_821dup, NM_001352828.2:c.819_821dup, NM_001352828.1:c.819_821dup, NM_001352877.2:c.-296_-294dup, NM_001352877.1:c.-296_-294dup, NM_001352831.2:c.819_821dup, NM_001352831.1:c.819_821dup, NM_001352863.2:c.714_716dup, NM_001352863.1:c.714_716dup, NM_001352837.2:c.819_821dup, NM_001352837.1:c.819_821dup, NM_001352867.2:c.714_716dup, NM_001352867.1:c.714_716dup, NM_001352868.2:c.714_716dup, NM_001352868.1:c.714_716dup, NM_001352827.2:c.819_821dup, NM_001352827.1:c.819_821dup, NM_001352864.2:c.714_716dup, NM_001352864.1:c.714_716dup, NM_001352865.2:c.714_716dup, NM_001352865.1:c.714_716dup, NM_001352878.2:c.-296_-294dup, NM_001352878.1:c.-296_-294dup, NM_001352826.2:c.819_821dup, NM_001352826.1:c.819_821dup, NM_001352857.2:c.819_821dup, NM_001352857.1:c.819_821dup, NM_001352850.2:c.819_821dup, NM_001352850.1:c.819_821dup, NM_001352846.2:c.819_821dup, NM_001352846.1:c.819_821dup, XM_017014058.2:c.819_821dup, XM_017014058.1:c.819_821dup, NM_001352861.2:c.714_716dup, NM_001352861.1:c.714_716dup, NM_001352853.2:c.819_821dup, NM_001352853.1:c.819_821dup, NM_001352829.2:c.819_821dup, NM_001352829.1:c.819_821dup, NM_001352866.2:c.714_716dup, NM_001352866.1:c.714_716dup, NM_001352843.2:c.819_821dup, NM_001352843.1:c.819_821dup, NM_001352842.2:c.819_821dup, NM_001352842.1:c.819_821dup, NM_001352835.2:c.819_821dup, NM_001352835.1:c.819_821dup, NM_001352869.2:c.714_716dup, NM_001352869.1:c.714_716dup, NM_001352854.2:c.819_821dup, NM_001352854.1:c.819_821dup, NM_001352830.2:c.819_821dup, NM_001352830.1:c.819_821dup, NM_001352838.2:c.819_821dup, NM_001352838.1:c.819_821dup, NM_001352851.2:c.819_821dup, NM_001352851.1:c.819_821dup, NM_001352834.2:c.819_821dup, NM_001352834.1:c.819_821dup, NM_001352832.2:c.819_821dup, NM_001352832.1:c.819_821dup, NM_001352849.2:c.819_821dup, NM_001352849.1:c.819_821dup, NM_001352840.2:c.819_821dup, NM_001352840.1:c.819_821dup, NM_001352845.2:c.819_821dup, NM_001352845.1:c.819_821dup, NM_001352859.2:c.732_734dup, NM_001352859.1:c.732_734dup, NM_001352856.2:c.819_821dup, NM_001352856.1:c.819_821dup, NM_001352841.2:c.819_821dup, NM_001352841.1:c.819_821dup, NM_001352833.2:c.819_821dup, NM_001352833.1:c.819_821dup, NM_001352858.2:c.732_734dup, NM_001352858.1:c.732_734dup, NM_001352844.2:c.819_821dup, NM_001352844.1:c.819_821dup, NM_001352860.2:c.732_734dup, NM_001352860.1:c.732_734dup, NM_001352862.2:c.714_716dup, NM_001352862.1:c.714_716dup, NM_001352875.2:c.819_821dup, NM_001352875.1:c.819_821dup, XM_024447349.2:c.819_821dup, XM_024447349.1:c.819_821dup, NM_001352870.2:c.819_821dup, NM_001352870.1:c.819_821dup, NM_001352847.2:c.819_821dup, NM_001352847.1:c.819_821dup, NM_001352874.2:c.819_821dup, NM_001352874.1:c.819_821dup, NM_001352872.2:c.819_821dup, NM_001352872.1:c.819_821dup, NM_001352855.2:c.819_821dup, NM_001352855.1:c.819_821dup, NM_001352836.2:c.819_821dup, NM_001352836.1:c.819_821dup, NM_001352839.2:c.819_821dup, NM_001352839.1:c.819_821dup, NM_001352852.2:c.819_821dup, NM_001352852.1:c.819_821dup, NM_001352848.2:c.819_821dup, NM_001352848.1:c.819_821dup, NM_001352871.2:c.819_821dup, NM_001352871.1:c.819_821dup, NM_001352873.2:c.819_821dup, NM_001352873.1:c.819_821dup, XM_047422484.1:c.819_821dup, XM_047422486.1:c.819_821dup, XM_047422485.1:c.819_821dup, XM_047422487.1:c.819_821dup, NP_055497.1:p.Ser274dup, NP_001339757.1:p.Ser274dup, NP_001339760.1:p.Ser274dup, NP_001339792.1:p.Ser239dup, NP_001339766.1:p.Ser274dup, NP_001339796.1:p.Ser239dup, NP_001339797.1:p.Ser239dup, NP_001339756.1:p.Ser274dup, NP_001339793.1:p.Ser239dup, NP_001339794.1:p.Ser239dup, NP_001339755.1:p.Ser274dup, NP_001339786.1:p.Ser274dup, NP_001339779.1:p.Ser274dup, NP_001339775.1:p.Ser274dup, XP_016869547.1:p.Ser274dup, NP_001339790.1:p.Ser239dup, NP_001339782.1:p.Ser274dup, NP_001339758.1:p.Ser274dup, NP_001339795.1:p.Ser239dup, NP_001339772.1:p.Ser274dup, NP_001339771.1:p.Ser274dup, NP_001339764.1:p.Ser274dup, NP_001339798.1:p.Ser239dup, NP_001339783.1:p.Ser274dup, NP_001339759.1:p.Ser274dup, NP_001339767.1:p.Ser274dup, NP_001339780.1:p.Ser274dup, NP_001339763.1:p.Ser274dup, NP_001339761.1:p.Ser274dup, NP_001339778.1:p.Ser274dup, NP_001339769.1:p.Ser274dup, NP_001339774.1:p.Ser274dup, NP_001339788.1:p.Ser245dup, NP_001339785.1:p.Ser274dup, NP_001339770.1:p.Ser274dup, NP_001339762.1:p.Ser274dup, NP_001339787.1:p.Ser245dup, NP_001339773.1:p.Ser274dup, NP_001339789.1:p.Ser245dup, NP_001339791.1:p.Ser239dup, NP_001339804.1:p.Ser274dup, XP_024303117.1:p.Ser274dup, NP_001339799.1:p.Ser274dup, NP_001339776.1:p.Ser274dup, NP_001339803.1:p.Ser274dup, NP_001339801.1:p.Ser274dup, NP_001339784.1:p.Ser274dup, NP_001339765.1:p.Ser274dup, NP_001339768.1:p.Ser274dup, NP_001339781.1:p.Ser274dup, NP_001339777.1:p.Ser274dup, NP_001339800.1:p.Ser274dup, NP_001339802.1:p.Ser274dup, XP_047278440.1:p.Ser274dup, XP_047278442.1:p.Ser274dup, XP_047278441.1:p.Ser274dup, XP_047278443.1:p.Ser274dup

                  9.

                  rs1479494979 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    8:52171834 (GRCh38)
                    8:53084394 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:52171833:T:C
                    Gene:
                    ST18 (Varview)
                    Functional Consequence:
                    missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000008.11:g.52171834T>C, NC_000008.10:g.53084394T>C, NM_014682.3:c.1027A>G, NM_014682.2:c.1027A>G, NM_001352828.2:c.1027A>G, NM_001352828.1:c.1027A>G, NM_001352877.2:c.-88A>G, NM_001352877.1:c.-88A>G, NM_001352831.2:c.1027A>G, NM_001352831.1:c.1027A>G, NM_001352863.2:c.922A>G, NM_001352863.1:c.922A>G, NM_001352837.2:c.1027A>G, NM_001352837.1:c.1027A>G, NM_001352867.2:c.922A>G, NM_001352867.1:c.922A>G, NM_001352868.2:c.922A>G, NM_001352868.1:c.922A>G, NM_001352827.2:c.1027A>G, NM_001352827.1:c.1027A>G, NM_001352864.2:c.922A>G, NM_001352864.1:c.922A>G, NM_001352865.2:c.922A>G, NM_001352865.1:c.922A>G, NM_001352878.2:c.-88A>G, NM_001352878.1:c.-88A>G, NM_001352826.2:c.1027A>G, NM_001352826.1:c.1027A>G, NM_001352857.2:c.1027A>G, NM_001352857.1:c.1027A>G, NM_001352850.2:c.1027A>G, NM_001352850.1:c.1027A>G, NM_001352846.2:c.1027A>G, NM_001352846.1:c.1027A>G, XM_017014058.2:c.1027A>G, XM_017014058.1:c.1027A>G, NM_001352861.2:c.922A>G, NM_001352861.1:c.922A>G, NM_001352853.2:c.1027A>G, NM_001352853.1:c.1027A>G, NM_001352829.2:c.1027A>G, NM_001352829.1:c.1027A>G, NM_001352866.2:c.922A>G, NM_001352866.1:c.922A>G, NM_001352843.2:c.1027A>G, NM_001352843.1:c.1027A>G, NM_001352842.2:c.1027A>G, NM_001352842.1:c.1027A>G, NM_001352835.2:c.1027A>G, NM_001352835.1:c.1027A>G, NM_001352869.2:c.922A>G, NM_001352869.1:c.922A>G, NM_001352854.2:c.1027A>G, NM_001352854.1:c.1027A>G, NM_001352830.2:c.1027A>G, NM_001352830.1:c.1027A>G, NM_001352838.2:c.1027A>G, NM_001352838.1:c.1027A>G, NM_001352851.2:c.1027A>G, NM_001352851.1:c.1027A>G, NM_001352834.2:c.1027A>G, NM_001352834.1:c.1027A>G, NM_001352832.2:c.1027A>G, NM_001352832.1:c.1027A>G, NM_001352849.2:c.1027A>G, NM_001352849.1:c.1027A>G, NM_001352840.2:c.1027A>G, NM_001352840.1:c.1027A>G, NM_001352845.2:c.1027A>G, NM_001352845.1:c.1027A>G, NM_001352859.2:c.940A>G, NM_001352859.1:c.940A>G, NM_001352856.2:c.1027A>G, NM_001352856.1:c.1027A>G, NM_001352841.2:c.1027A>G, NM_001352841.1:c.1027A>G, NM_001352833.2:c.1027A>G, NM_001352833.1:c.1027A>G, NM_001352858.2:c.940A>G, NM_001352858.1:c.940A>G, NM_001352844.2:c.1027A>G, NM_001352844.1:c.1027A>G, NM_001352860.2:c.940A>G, NM_001352860.1:c.940A>G, NM_001352862.2:c.922A>G, NM_001352862.1:c.922A>G, NM_001352875.2:c.1027A>G, NM_001352875.1:c.1027A>G, XM_024447349.2:c.1027A>G, XM_024447349.1:c.1027A>G, NM_001352870.2:c.1027A>G, NM_001352870.1:c.1027A>G, NM_001352847.2:c.1027A>G, NM_001352847.1:c.1027A>G, NM_001352874.2:c.1027A>G, NM_001352874.1:c.1027A>G, NM_001352872.2:c.1027A>G, NM_001352872.1:c.1027A>G, NM_001352855.2:c.1027A>G, NM_001352855.1:c.1027A>G, NM_001352836.2:c.1027A>G, NM_001352836.1:c.1027A>G, NM_001352839.2:c.1027A>G, NM_001352839.1:c.1027A>G, NM_001352852.2:c.1027A>G, NM_001352852.1:c.1027A>G, NM_001352848.2:c.1027A>G, NM_001352848.1:c.1027A>G, NM_001352871.2:c.1027A>G, NM_001352871.1:c.1027A>G, NM_001352873.2:c.1027A>G, NM_001352873.1:c.1027A>G, XM_047422484.1:c.1027A>G, XM_047422486.1:c.1027A>G, XM_047422485.1:c.1027A>G, XM_047422487.1:c.1027A>G, NP_055497.1:p.Lys343Glu, NP_001339757.1:p.Lys343Glu, NP_001339760.1:p.Lys343Glu, NP_001339792.1:p.Lys308Glu, NP_001339766.1:p.Lys343Glu, NP_001339796.1:p.Lys308Glu, NP_001339797.1:p.Lys308Glu, NP_001339756.1:p.Lys343Glu, NP_001339793.1:p.Lys308Glu, NP_001339794.1:p.Lys308Glu, NP_001339755.1:p.Lys343Glu, NP_001339786.1:p.Lys343Glu, NP_001339779.1:p.Lys343Glu, NP_001339775.1:p.Lys343Glu, XP_016869547.1:p.Lys343Glu, NP_001339790.1:p.Lys308Glu, NP_001339782.1:p.Lys343Glu, NP_001339758.1:p.Lys343Glu, NP_001339795.1:p.Lys308Glu, NP_001339772.1:p.Lys343Glu, NP_001339771.1:p.Lys343Glu, NP_001339764.1:p.Lys343Glu, NP_001339798.1:p.Lys308Glu, NP_001339783.1:p.Lys343Glu, NP_001339759.1:p.Lys343Glu, NP_001339767.1:p.Lys343Glu, NP_001339780.1:p.Lys343Glu, NP_001339763.1:p.Lys343Glu, NP_001339761.1:p.Lys343Glu, NP_001339778.1:p.Lys343Glu, NP_001339769.1:p.Lys343Glu, NP_001339774.1:p.Lys343Glu, NP_001339788.1:p.Lys314Glu, NP_001339785.1:p.Lys343Glu, NP_001339770.1:p.Lys343Glu, NP_001339762.1:p.Lys343Glu, NP_001339787.1:p.Lys314Glu, NP_001339773.1:p.Lys343Glu, NP_001339789.1:p.Lys314Glu, NP_001339791.1:p.Lys308Glu, NP_001339804.1:p.Lys343Glu, XP_024303117.1:p.Lys343Glu, NP_001339799.1:p.Lys343Glu, NP_001339776.1:p.Lys343Glu, NP_001339803.1:p.Lys343Glu, NP_001339801.1:p.Lys343Glu, NP_001339784.1:p.Lys343Glu, NP_001339765.1:p.Lys343Glu, NP_001339768.1:p.Lys343Glu, NP_001339781.1:p.Lys343Glu, NP_001339777.1:p.Lys343Glu, NP_001339800.1:p.Lys343Glu, NP_001339802.1:p.Lys343Glu, XP_047278440.1:p.Lys343Glu, XP_047278442.1:p.Lys343Glu, XP_047278441.1:p.Lys343Glu, XP_047278443.1:p.Lys343Glu

                    10.

                    rs1479382908 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:52180128 (GRCh38)
                      8:53092688 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:52180127:T:C
                      Gene:
                      ST18 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000008.11:g.52180128T>C, NC_000008.10:g.53092688T>C, NM_014682.3:c.271A>G, NM_014682.2:c.271A>G, NM_001352828.2:c.271A>G, NM_001352828.1:c.271A>G, NM_001352877.2:c.-844A>G, NM_001352877.1:c.-844A>G, NM_001352831.2:c.271A>G, NM_001352831.1:c.271A>G, NM_001352863.2:c.166A>G, NM_001352863.1:c.166A>G, NM_001352837.2:c.271A>G, NM_001352837.1:c.271A>G, NM_001352867.2:c.166A>G, NM_001352867.1:c.166A>G, NM_001352868.2:c.166A>G, NM_001352868.1:c.166A>G, NM_001352827.2:c.271A>G, NM_001352827.1:c.271A>G, NM_001352864.2:c.166A>G, NM_001352864.1:c.166A>G, NM_001352865.2:c.166A>G, NM_001352865.1:c.166A>G, NM_001352878.2:c.-844A>G, NM_001352878.1:c.-844A>G, NM_001352826.2:c.271A>G, NM_001352826.1:c.271A>G, NM_001352857.2:c.271A>G, NM_001352857.1:c.271A>G, NM_001352850.2:c.271A>G, NM_001352850.1:c.271A>G, NM_001352846.2:c.271A>G, NM_001352846.1:c.271A>G, XM_017014058.2:c.271A>G, XM_017014058.1:c.271A>G, NM_001352861.2:c.166A>G, NM_001352861.1:c.166A>G, NM_001352853.2:c.271A>G, NM_001352853.1:c.271A>G, NM_001352829.2:c.271A>G, NM_001352829.1:c.271A>G, NM_001352866.2:c.166A>G, NM_001352866.1:c.166A>G, NM_001352843.2:c.271A>G, NM_001352843.1:c.271A>G, NM_001352842.2:c.271A>G, NM_001352842.1:c.271A>G, NM_001352835.2:c.271A>G, NM_001352835.1:c.271A>G, NM_001352869.2:c.166A>G, NM_001352869.1:c.166A>G, NM_001352854.2:c.271A>G, NM_001352854.1:c.271A>G, NM_001352830.2:c.271A>G, NM_001352830.1:c.271A>G, NM_001352838.2:c.271A>G, NM_001352838.1:c.271A>G, NM_001352851.2:c.271A>G, NM_001352851.1:c.271A>G, NM_001352834.2:c.271A>G, NM_001352834.1:c.271A>G, NM_001352832.2:c.271A>G, NM_001352832.1:c.271A>G, NM_001352849.2:c.271A>G, NM_001352849.1:c.271A>G, NM_001352840.2:c.271A>G, NM_001352840.1:c.271A>G, NM_001352845.2:c.271A>G, NM_001352845.1:c.271A>G, NM_001352859.2:c.271A>G, NM_001352859.1:c.271A>G, NM_001352856.2:c.271A>G, NM_001352856.1:c.271A>G, NM_001352841.2:c.271A>G, NM_001352841.1:c.271A>G, NM_001352833.2:c.271A>G, NM_001352833.1:c.271A>G, NM_001352858.2:c.271A>G, NM_001352858.1:c.271A>G, NM_001352844.2:c.271A>G, NM_001352844.1:c.271A>G, NM_001352860.2:c.271A>G, NM_001352860.1:c.271A>G, NM_001352862.2:c.166A>G, NM_001352862.1:c.166A>G, NM_001352875.2:c.271A>G, NM_001352875.1:c.271A>G, XM_024447349.2:c.271A>G, XM_024447349.1:c.271A>G, NM_001352870.2:c.271A>G, NM_001352870.1:c.271A>G, NM_001352847.2:c.271A>G, NM_001352847.1:c.271A>G, NM_001352874.2:c.271A>G, NM_001352874.1:c.271A>G, NM_001352872.2:c.271A>G, NM_001352872.1:c.271A>G, NM_001352855.2:c.271A>G, NM_001352855.1:c.271A>G, NM_001352836.2:c.271A>G, NM_001352836.1:c.271A>G, NM_001352839.2:c.271A>G, NM_001352839.1:c.271A>G, NM_001352852.2:c.271A>G, NM_001352852.1:c.271A>G, NM_001352848.2:c.271A>G, NM_001352848.1:c.271A>G, NM_001352871.2:c.271A>G, NM_001352871.1:c.271A>G, NM_001352873.2:c.271A>G, NM_001352873.1:c.271A>G, NM_001352876.2:c.271A>G, NM_001352876.1:c.271A>G, XM_047422484.1:c.271A>G, XM_047422486.1:c.271A>G, XM_047422485.1:c.271A>G, XM_047422487.1:c.271A>G, NP_055497.1:p.Thr91Ala, NP_001339757.1:p.Thr91Ala, NP_001339760.1:p.Thr91Ala, NP_001339792.1:p.Thr56Ala, NP_001339766.1:p.Thr91Ala, NP_001339796.1:p.Thr56Ala, NP_001339797.1:p.Thr56Ala, NP_001339756.1:p.Thr91Ala, NP_001339793.1:p.Thr56Ala, NP_001339794.1:p.Thr56Ala, NP_001339755.1:p.Thr91Ala, NP_001339786.1:p.Thr91Ala, NP_001339779.1:p.Thr91Ala, NP_001339775.1:p.Thr91Ala, XP_016869547.1:p.Thr91Ala, NP_001339790.1:p.Thr56Ala, NP_001339782.1:p.Thr91Ala, NP_001339758.1:p.Thr91Ala, NP_001339795.1:p.Thr56Ala, NP_001339772.1:p.Thr91Ala, NP_001339771.1:p.Thr91Ala, NP_001339764.1:p.Thr91Ala, NP_001339798.1:p.Thr56Ala, NP_001339783.1:p.Thr91Ala, NP_001339759.1:p.Thr91Ala, NP_001339767.1:p.Thr91Ala, NP_001339780.1:p.Thr91Ala, NP_001339763.1:p.Thr91Ala, NP_001339761.1:p.Thr91Ala, NP_001339778.1:p.Thr91Ala, NP_001339769.1:p.Thr91Ala, NP_001339774.1:p.Thr91Ala, NP_001339788.1:p.Thr91Ala, NP_001339785.1:p.Thr91Ala, NP_001339770.1:p.Thr91Ala, NP_001339762.1:p.Thr91Ala, NP_001339787.1:p.Thr91Ala, NP_001339773.1:p.Thr91Ala, NP_001339789.1:p.Thr91Ala, NP_001339791.1:p.Thr56Ala, NP_001339804.1:p.Thr91Ala, XP_024303117.1:p.Thr91Ala, NP_001339799.1:p.Thr91Ala, NP_001339776.1:p.Thr91Ala, NP_001339803.1:p.Thr91Ala, NP_001339801.1:p.Thr91Ala, NP_001339784.1:p.Thr91Ala, NP_001339765.1:p.Thr91Ala, NP_001339768.1:p.Thr91Ala, NP_001339781.1:p.Thr91Ala, NP_001339777.1:p.Thr91Ala, NP_001339800.1:p.Thr91Ala, NP_001339802.1:p.Thr91Ala, NP_001339805.1:p.Thr91Ala, XP_047278440.1:p.Thr91Ala, XP_047278442.1:p.Thr91Ala, XP_047278441.1:p.Thr91Ala, XP_047278443.1:p.Thr91Ala

                      11.

                      rs1478728765 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        8:52116345 (GRCh38)
                        8:53028905 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:52116344:A:C
                        Gene:
                        ST18 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.52116345A>C, NC_000008.10:g.53028905A>C, NM_014682.3:c.2933T>G, NM_014682.2:c.2933T>G, NM_001352828.2:c.2933T>G, NM_001352828.1:c.2933T>G, NM_001352877.2:c.1874T>G, NM_001352877.1:c.1874T>G, NM_001352831.2:c.2933T>G, NM_001352831.1:c.2933T>G, NM_001352863.2:c.2828T>G, NM_001352863.1:c.2828T>G, NM_001352837.2:c.2933T>G, NM_001352837.1:c.2933T>G, NM_001352867.2:c.2828T>G, NM_001352867.1:c.2828T>G, NM_001352868.2:c.2828T>G, NM_001352868.1:c.2828T>G, NM_001352827.2:c.2933T>G, NM_001352827.1:c.2933T>G, NM_001352864.2:c.2828T>G, NM_001352864.1:c.2828T>G, NM_001352865.2:c.2828T>G, NM_001352865.1:c.2828T>G, NM_001352878.2:c.1874T>G, NM_001352878.1:c.1874T>G, NM_001352826.2:c.2933T>G, NM_001352826.1:c.2933T>G, NM_001352857.2:c.2933T>G, NM_001352857.1:c.2933T>G, NM_001352850.2:c.2933T>G, NM_001352850.1:c.2933T>G, NM_001352846.2:c.2933T>G, NM_001352846.1:c.2933T>G, XM_017014058.2:c.2933T>G, XM_017014058.1:c.2933T>G, NM_001352861.2:c.2828T>G, NM_001352861.1:c.2828T>G, NM_001352853.2:c.2933T>G, NM_001352853.1:c.2933T>G, NM_001352829.2:c.2933T>G, NM_001352829.1:c.2933T>G, NM_001352866.2:c.2828T>G, NM_001352866.1:c.2828T>G, NM_001352843.2:c.2933T>G, NM_001352843.1:c.2933T>G, NM_001352842.2:c.2933T>G, NM_001352842.1:c.2933T>G, NM_001352835.2:c.2933T>G, NM_001352835.1:c.2933T>G, NM_001352869.2:c.2828T>G, NM_001352869.1:c.2828T>G, NM_001352854.2:c.2933T>G, NM_001352854.1:c.2933T>G, NM_001352830.2:c.2933T>G, NM_001352830.1:c.2933T>G, NM_001352838.2:c.2933T>G, NM_001352838.1:c.2933T>G, NM_001352851.2:c.2933T>G, NM_001352851.1:c.2933T>G, NM_001352834.2:c.2933T>G, NM_001352834.1:c.2933T>G, NM_001352832.2:c.2933T>G, NM_001352832.1:c.2933T>G, NM_001352849.2:c.2933T>G, NM_001352849.1:c.2933T>G, NM_001352840.2:c.2933T>G, NM_001352840.1:c.2933T>G, NM_001352845.2:c.2933T>G, NM_001352845.1:c.2933T>G, NM_001352859.2:c.2846T>G, NM_001352859.1:c.2846T>G, NM_001352856.2:c.2933T>G, NM_001352856.1:c.2933T>G, NM_001352841.2:c.2933T>G, NM_001352841.1:c.2933T>G, NM_001352833.2:c.2933T>G, NM_001352833.1:c.2933T>G, NM_001352858.2:c.2846T>G, NM_001352858.1:c.2846T>G, NM_001352844.2:c.2933T>G, NM_001352844.1:c.2933T>G, NM_001352860.2:c.2846T>G, NM_001352860.1:c.2846T>G, NM_001352862.2:c.2828T>G, NM_001352862.1:c.2828T>G, NM_001352875.2:c.2687T>G, NM_001352875.1:c.2687T>G, XM_024447349.2:c.2933T>G, XM_024447349.1:c.2933T>G, NM_001352870.2:c.2687T>G, NM_001352870.1:c.2687T>G, NM_001352847.2:c.2933T>G, NM_001352847.1:c.2933T>G, NM_001352874.2:c.2687T>G, NM_001352874.1:c.2687T>G, NM_001352872.2:c.2687T>G, NM_001352872.1:c.2687T>G, NM_001352855.2:c.2933T>G, NM_001352855.1:c.2933T>G, NM_001352836.2:c.2933T>G, NM_001352836.1:c.2933T>G, NM_001352839.2:c.2933T>G, NM_001352839.1:c.2933T>G, NM_001352852.2:c.2933T>G, NM_001352852.1:c.2933T>G, NM_001352848.2:c.2933T>G, NM_001352848.1:c.2933T>G, NM_001352871.2:c.2687T>G, NM_001352871.1:c.2687T>G, NM_001352873.2:c.2687T>G, NM_001352873.1:c.2687T>G, NM_001352876.2:c.1895T>G, NM_001352876.1:c.1895T>G, XM_024447350.2:c.1874T>G, XM_024447350.1:c.1874T>G, XM_047422484.1:c.2933T>G, XM_047422486.1:c.2687T>G, XM_047422485.1:c.2687T>G, XM_047422487.1:c.2687T>G, NP_055497.1:p.Leu978Arg, NP_001339757.1:p.Leu978Arg, NP_001339806.1:p.Leu625Arg, NP_001339760.1:p.Leu978Arg, NP_001339792.1:p.Leu943Arg, NP_001339766.1:p.Leu978Arg, NP_001339796.1:p.Leu943Arg, NP_001339797.1:p.Leu943Arg, NP_001339756.1:p.Leu978Arg, NP_001339793.1:p.Leu943Arg, NP_001339794.1:p.Leu943Arg, NP_001339807.1:p.Leu625Arg, NP_001339755.1:p.Leu978Arg, NP_001339786.1:p.Leu978Arg, NP_001339779.1:p.Leu978Arg, NP_001339775.1:p.Leu978Arg, XP_016869547.1:p.Leu978Arg, NP_001339790.1:p.Leu943Arg, NP_001339782.1:p.Leu978Arg, NP_001339758.1:p.Leu978Arg, NP_001339795.1:p.Leu943Arg, NP_001339772.1:p.Leu978Arg, NP_001339771.1:p.Leu978Arg, NP_001339764.1:p.Leu978Arg, NP_001339798.1:p.Leu943Arg, NP_001339783.1:p.Leu978Arg, NP_001339759.1:p.Leu978Arg, NP_001339767.1:p.Leu978Arg, NP_001339780.1:p.Leu978Arg, NP_001339763.1:p.Leu978Arg, NP_001339761.1:p.Leu978Arg, NP_001339778.1:p.Leu978Arg, NP_001339769.1:p.Leu978Arg, NP_001339774.1:p.Leu978Arg, NP_001339788.1:p.Leu949Arg, NP_001339785.1:p.Leu978Arg, NP_001339770.1:p.Leu978Arg, NP_001339762.1:p.Leu978Arg, NP_001339787.1:p.Leu949Arg, NP_001339773.1:p.Leu978Arg, NP_001339789.1:p.Leu949Arg, NP_001339791.1:p.Leu943Arg, NP_001339804.1:p.Leu896Arg, XP_024303117.1:p.Leu978Arg, NP_001339799.1:p.Leu896Arg, NP_001339776.1:p.Leu978Arg, NP_001339803.1:p.Leu896Arg, NP_001339801.1:p.Leu896Arg, NP_001339784.1:p.Leu978Arg, NP_001339765.1:p.Leu978Arg, NP_001339768.1:p.Leu978Arg, NP_001339781.1:p.Leu978Arg, NP_001339777.1:p.Leu978Arg, NP_001339800.1:p.Leu896Arg, NP_001339802.1:p.Leu896Arg, NP_001339805.1:p.Leu632Arg, XP_024303118.1:p.Leu625Arg, XP_047278440.1:p.Leu978Arg, XP_047278442.1:p.Leu896Arg, XP_047278441.1:p.Leu896Arg, XP_047278443.1:p.Leu896Arg

                        12.

                        rs1478025501 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          8:52159010 (GRCh38)
                          8:53071570 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:52159009:T:A
                          Gene:
                          ST18 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.52159010T>A, NC_000008.10:g.53071570T>A, NM_014682.3:c.1694A>T, NM_014682.2:c.1694A>T, NM_001352828.2:c.1694A>T, NM_001352828.1:c.1694A>T, NM_001352877.2:c.635A>T, NM_001352877.1:c.635A>T, NM_001352831.2:c.1694A>T, NM_001352831.1:c.1694A>T, NM_001352863.2:c.1589A>T, NM_001352863.1:c.1589A>T, NM_001352837.2:c.1694A>T, NM_001352837.1:c.1694A>T, NM_001352867.2:c.1589A>T, NM_001352867.1:c.1589A>T, NM_001352868.2:c.1589A>T, NM_001352868.1:c.1589A>T, NM_001352827.2:c.1694A>T, NM_001352827.1:c.1694A>T, NM_001352864.2:c.1589A>T, NM_001352864.1:c.1589A>T, NM_001352865.2:c.1589A>T, NM_001352865.1:c.1589A>T, NM_001352878.2:c.635A>T, NM_001352878.1:c.635A>T, NM_001352826.2:c.1694A>T, NM_001352826.1:c.1694A>T, NM_001352857.2:c.1694A>T, NM_001352857.1:c.1694A>T, NM_001352850.2:c.1694A>T, NM_001352850.1:c.1694A>T, NM_001352846.2:c.1694A>T, NM_001352846.1:c.1694A>T, XM_017014058.2:c.1694A>T, XM_017014058.1:c.1694A>T, NM_001352861.2:c.1589A>T, NM_001352861.1:c.1589A>T, NM_001352853.2:c.1694A>T, NM_001352853.1:c.1694A>T, NM_001352829.2:c.1694A>T, NM_001352829.1:c.1694A>T, NM_001352866.2:c.1589A>T, NM_001352866.1:c.1589A>T, NM_001352843.2:c.1694A>T, NM_001352843.1:c.1694A>T, NM_001352842.2:c.1694A>T, NM_001352842.1:c.1694A>T, NM_001352835.2:c.1694A>T, NM_001352835.1:c.1694A>T, NM_001352869.2:c.1589A>T, NM_001352869.1:c.1589A>T, NM_001352854.2:c.1694A>T, NM_001352854.1:c.1694A>T, NM_001352830.2:c.1694A>T, NM_001352830.1:c.1694A>T, NM_001352838.2:c.1694A>T, NM_001352838.1:c.1694A>T, NM_001352851.2:c.1694A>T, NM_001352851.1:c.1694A>T, NM_001352834.2:c.1694A>T, NM_001352834.1:c.1694A>T, NM_001352832.2:c.1694A>T, NM_001352832.1:c.1694A>T, NM_001352849.2:c.1694A>T, NM_001352849.1:c.1694A>T, NM_001352840.2:c.1694A>T, NM_001352840.1:c.1694A>T, NM_001352845.2:c.1694A>T, NM_001352845.1:c.1694A>T, NM_001352859.2:c.1607A>T, NM_001352859.1:c.1607A>T, NM_001352856.2:c.1694A>T, NM_001352856.1:c.1694A>T, NM_001352841.2:c.1694A>T, NM_001352841.1:c.1694A>T, NM_001352833.2:c.1694A>T, NM_001352833.1:c.1694A>T, NM_001352858.2:c.1607A>T, NM_001352858.1:c.1607A>T, NM_001352844.2:c.1694A>T, NM_001352844.1:c.1694A>T, NM_001352860.2:c.1607A>T, NM_001352860.1:c.1607A>T, NM_001352862.2:c.1589A>T, NM_001352862.1:c.1589A>T, NM_001352875.2:c.1694A>T, NM_001352875.1:c.1694A>T, XM_024447349.2:c.1694A>T, XM_024447349.1:c.1694A>T, NM_001352870.2:c.1694A>T, NM_001352870.1:c.1694A>T, NM_001352847.2:c.1694A>T, NM_001352847.1:c.1694A>T, NM_001352874.2:c.1694A>T, NM_001352874.1:c.1694A>T, NM_001352872.2:c.1694A>T, NM_001352872.1:c.1694A>T, NM_001352855.2:c.1694A>T, NM_001352855.1:c.1694A>T, NM_001352836.2:c.1694A>T, NM_001352836.1:c.1694A>T, NM_001352839.2:c.1694A>T, NM_001352839.1:c.1694A>T, NM_001352852.2:c.1694A>T, NM_001352852.1:c.1694A>T, NM_001352848.2:c.1694A>T, NM_001352848.1:c.1694A>T, NM_001352871.2:c.1694A>T, NM_001352871.1:c.1694A>T, NM_001352873.2:c.1694A>T, NM_001352873.1:c.1694A>T, NM_001352876.2:c.902A>T, NM_001352876.1:c.902A>T, XM_024447350.2:c.635A>T, XM_024447350.1:c.635A>T, XM_047422484.1:c.1694A>T, XM_047422486.1:c.1694A>T, XM_047422485.1:c.1694A>T, XM_047422487.1:c.1694A>T, NP_055497.1:p.Gln565Leu, NP_001339757.1:p.Gln565Leu, NP_001339806.1:p.Gln212Leu, NP_001339760.1:p.Gln565Leu, NP_001339792.1:p.Gln530Leu, NP_001339766.1:p.Gln565Leu, NP_001339796.1:p.Gln530Leu, NP_001339797.1:p.Gln530Leu, NP_001339756.1:p.Gln565Leu, NP_001339793.1:p.Gln530Leu, NP_001339794.1:p.Gln530Leu, NP_001339807.1:p.Gln212Leu, NP_001339755.1:p.Gln565Leu, NP_001339786.1:p.Gln565Leu, NP_001339779.1:p.Gln565Leu, NP_001339775.1:p.Gln565Leu, XP_016869547.1:p.Gln565Leu, NP_001339790.1:p.Gln530Leu, NP_001339782.1:p.Gln565Leu, NP_001339758.1:p.Gln565Leu, NP_001339795.1:p.Gln530Leu, NP_001339772.1:p.Gln565Leu, NP_001339771.1:p.Gln565Leu, NP_001339764.1:p.Gln565Leu, NP_001339798.1:p.Gln530Leu, NP_001339783.1:p.Gln565Leu, NP_001339759.1:p.Gln565Leu, NP_001339767.1:p.Gln565Leu, NP_001339780.1:p.Gln565Leu, NP_001339763.1:p.Gln565Leu, NP_001339761.1:p.Gln565Leu, NP_001339778.1:p.Gln565Leu, NP_001339769.1:p.Gln565Leu, NP_001339774.1:p.Gln565Leu, NP_001339788.1:p.Gln536Leu, NP_001339785.1:p.Gln565Leu, NP_001339770.1:p.Gln565Leu, NP_001339762.1:p.Gln565Leu, NP_001339787.1:p.Gln536Leu, NP_001339773.1:p.Gln565Leu, NP_001339789.1:p.Gln536Leu, NP_001339791.1:p.Gln530Leu, NP_001339804.1:p.Gln565Leu, XP_024303117.1:p.Gln565Leu, NP_001339799.1:p.Gln565Leu, NP_001339776.1:p.Gln565Leu, NP_001339803.1:p.Gln565Leu, NP_001339801.1:p.Gln565Leu, NP_001339784.1:p.Gln565Leu, NP_001339765.1:p.Gln565Leu, NP_001339768.1:p.Gln565Leu, NP_001339781.1:p.Gln565Leu, NP_001339777.1:p.Gln565Leu, NP_001339800.1:p.Gln565Leu, NP_001339802.1:p.Gln565Leu, NP_001339805.1:p.Gln301Leu, XP_024303118.1:p.Gln212Leu, XP_047278440.1:p.Gln565Leu, XP_047278442.1:p.Gln565Leu, XP_047278441.1:p.Gln565Leu, XP_047278443.1:p.Gln565Leu

                          13.

                          rs1477974612 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            8:52165215 (GRCh38)
                            8:53077775 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:52165214:C:T
                            Gene:
                            ST18 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000014/2 (GnomAD)
                            T=0.000026/7 (TOPMED)
                            HGVS:
                            NC_000008.11:g.52165215C>T, NC_000008.10:g.53077775C>T, NM_014682.3:c.1215G>A, NM_014682.2:c.1215G>A, NM_001352828.2:c.1215G>A, NM_001352828.1:c.1215G>A, NM_001352877.2:c.156G>A, NM_001352877.1:c.156G>A, NM_001352831.2:c.1215G>A, NM_001352831.1:c.1215G>A, NM_001352863.2:c.1110G>A, NM_001352863.1:c.1110G>A, NM_001352837.2:c.1215G>A, NM_001352837.1:c.1215G>A, NM_001352867.2:c.1110G>A, NM_001352867.1:c.1110G>A, NM_001352868.2:c.1110G>A, NM_001352868.1:c.1110G>A, NM_001352827.2:c.1215G>A, NM_001352827.1:c.1215G>A, NM_001352864.2:c.1110G>A, NM_001352864.1:c.1110G>A, NM_001352865.2:c.1110G>A, NM_001352865.1:c.1110G>A, NM_001352878.2:c.156G>A, NM_001352878.1:c.156G>A, NM_001352826.2:c.1215G>A, NM_001352826.1:c.1215G>A, NM_001352857.2:c.1215G>A, NM_001352857.1:c.1215G>A, NM_001352850.2:c.1215G>A, NM_001352850.1:c.1215G>A, NM_001352846.2:c.1215G>A, NM_001352846.1:c.1215G>A, XM_017014058.2:c.1215G>A, XM_017014058.1:c.1215G>A, NM_001352861.2:c.1110G>A, NM_001352861.1:c.1110G>A, NM_001352853.2:c.1215G>A, NM_001352853.1:c.1215G>A, NM_001352829.2:c.1215G>A, NM_001352829.1:c.1215G>A, NM_001352866.2:c.1110G>A, NM_001352866.1:c.1110G>A, NM_001352843.2:c.1215G>A, NM_001352843.1:c.1215G>A, NM_001352842.2:c.1215G>A, NM_001352842.1:c.1215G>A, NM_001352835.2:c.1215G>A, NM_001352835.1:c.1215G>A, NM_001352869.2:c.1110G>A, NM_001352869.1:c.1110G>A, NM_001352854.2:c.1215G>A, NM_001352854.1:c.1215G>A, NM_001352830.2:c.1215G>A, NM_001352830.1:c.1215G>A, NM_001352838.2:c.1215G>A, NM_001352838.1:c.1215G>A, NM_001352851.2:c.1215G>A, NM_001352851.1:c.1215G>A, NM_001352834.2:c.1215G>A, NM_001352834.1:c.1215G>A, NM_001352832.2:c.1215G>A, NM_001352832.1:c.1215G>A, NM_001352849.2:c.1215G>A, NM_001352849.1:c.1215G>A, NM_001352840.2:c.1215G>A, NM_001352840.1:c.1215G>A, NM_001352845.2:c.1215G>A, NM_001352845.1:c.1215G>A, NM_001352859.2:c.1128G>A, NM_001352859.1:c.1128G>A, NM_001352856.2:c.1215G>A, NM_001352856.1:c.1215G>A, NM_001352841.2:c.1215G>A, NM_001352841.1:c.1215G>A, NM_001352833.2:c.1215G>A, NM_001352833.1:c.1215G>A, NM_001352858.2:c.1128G>A, NM_001352858.1:c.1128G>A, NM_001352844.2:c.1215G>A, NM_001352844.1:c.1215G>A, NM_001352860.2:c.1128G>A, NM_001352860.1:c.1128G>A, NM_001352862.2:c.1110G>A, NM_001352862.1:c.1110G>A, NM_001352875.2:c.1215G>A, NM_001352875.1:c.1215G>A, XM_024447349.2:c.1215G>A, XM_024447349.1:c.1215G>A, NM_001352870.2:c.1215G>A, NM_001352870.1:c.1215G>A, NM_001352847.2:c.1215G>A, NM_001352847.1:c.1215G>A, NM_001352874.2:c.1215G>A, NM_001352874.1:c.1215G>A, NM_001352872.2:c.1215G>A, NM_001352872.1:c.1215G>A, NM_001352855.2:c.1215G>A, NM_001352855.1:c.1215G>A, NM_001352836.2:c.1215G>A, NM_001352836.1:c.1215G>A, NM_001352839.2:c.1215G>A, NM_001352839.1:c.1215G>A, NM_001352852.2:c.1215G>A, NM_001352852.1:c.1215G>A, NM_001352848.2:c.1215G>A, NM_001352848.1:c.1215G>A, NM_001352871.2:c.1215G>A, NM_001352871.1:c.1215G>A, NM_001352873.2:c.1215G>A, NM_001352873.1:c.1215G>A, NM_001352876.2:c.423G>A, NM_001352876.1:c.423G>A, XM_024447350.2:c.156G>A, XM_024447350.1:c.156G>A, XM_047422484.1:c.1215G>A, XM_047422486.1:c.1215G>A, XM_047422485.1:c.1215G>A, XM_047422487.1:c.1215G>A, NP_055497.1:p.Met405Ile, NP_001339757.1:p.Met405Ile, NP_001339806.1:p.Met52Ile, NP_001339760.1:p.Met405Ile, NP_001339792.1:p.Met370Ile, NP_001339766.1:p.Met405Ile, NP_001339796.1:p.Met370Ile, NP_001339797.1:p.Met370Ile, NP_001339756.1:p.Met405Ile, NP_001339793.1:p.Met370Ile, NP_001339794.1:p.Met370Ile, NP_001339807.1:p.Met52Ile, NP_001339755.1:p.Met405Ile, NP_001339786.1:p.Met405Ile, NP_001339779.1:p.Met405Ile, NP_001339775.1:p.Met405Ile, XP_016869547.1:p.Met405Ile, NP_001339790.1:p.Met370Ile, NP_001339782.1:p.Met405Ile, NP_001339758.1:p.Met405Ile, NP_001339795.1:p.Met370Ile, NP_001339772.1:p.Met405Ile, NP_001339771.1:p.Met405Ile, NP_001339764.1:p.Met405Ile, NP_001339798.1:p.Met370Ile, NP_001339783.1:p.Met405Ile, NP_001339759.1:p.Met405Ile, NP_001339767.1:p.Met405Ile, NP_001339780.1:p.Met405Ile, NP_001339763.1:p.Met405Ile, NP_001339761.1:p.Met405Ile, NP_001339778.1:p.Met405Ile, NP_001339769.1:p.Met405Ile, NP_001339774.1:p.Met405Ile, NP_001339788.1:p.Met376Ile, NP_001339785.1:p.Met405Ile, NP_001339770.1:p.Met405Ile, NP_001339762.1:p.Met405Ile, NP_001339787.1:p.Met376Ile, NP_001339773.1:p.Met405Ile, NP_001339789.1:p.Met376Ile, NP_001339791.1:p.Met370Ile, NP_001339804.1:p.Met405Ile, XP_024303117.1:p.Met405Ile, NP_001339799.1:p.Met405Ile, NP_001339776.1:p.Met405Ile, NP_001339803.1:p.Met405Ile, NP_001339801.1:p.Met405Ile, NP_001339784.1:p.Met405Ile, NP_001339765.1:p.Met405Ile, NP_001339768.1:p.Met405Ile, NP_001339781.1:p.Met405Ile, NP_001339777.1:p.Met405Ile, NP_001339800.1:p.Met405Ile, NP_001339802.1:p.Met405Ile, NP_001339805.1:p.Met141Ile, XP_024303118.1:p.Met52Ile, XP_047278440.1:p.Met405Ile, XP_047278442.1:p.Met405Ile, XP_047278441.1:p.Met405Ile, XP_047278443.1:p.Met405Ile

                            14.

                            rs1477330519 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              8:52180198 (GRCh38)
                              8:53092758 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:52180197:T:A
                              Gene:
                              ST18 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.52180198T>A, NC_000008.10:g.53092758T>A, NM_014682.3:c.201A>T, NM_014682.2:c.201A>T, NM_001352828.2:c.201A>T, NM_001352828.1:c.201A>T, NM_001352877.2:c.-914A>T, NM_001352877.1:c.-914A>T, NM_001352831.2:c.201A>T, NM_001352831.1:c.201A>T, NM_001352863.2:c.96A>T, NM_001352863.1:c.96A>T, NM_001352837.2:c.201A>T, NM_001352837.1:c.201A>T, NM_001352867.2:c.96A>T, NM_001352867.1:c.96A>T, NM_001352868.2:c.96A>T, NM_001352868.1:c.96A>T, NM_001352827.2:c.201A>T, NM_001352827.1:c.201A>T, NM_001352864.2:c.96A>T, NM_001352864.1:c.96A>T, NM_001352865.2:c.96A>T, NM_001352865.1:c.96A>T, NM_001352878.2:c.-914A>T, NM_001352878.1:c.-914A>T, NM_001352826.2:c.201A>T, NM_001352826.1:c.201A>T, NM_001352857.2:c.201A>T, NM_001352857.1:c.201A>T, NM_001352850.2:c.201A>T, NM_001352850.1:c.201A>T, NM_001352846.2:c.201A>T, NM_001352846.1:c.201A>T, XM_017014058.2:c.201A>T, XM_017014058.1:c.201A>T, NM_001352861.2:c.96A>T, NM_001352861.1:c.96A>T, NM_001352853.2:c.201A>T, NM_001352853.1:c.201A>T, NM_001352829.2:c.201A>T, NM_001352829.1:c.201A>T, NM_001352866.2:c.96A>T, NM_001352866.1:c.96A>T, NM_001352843.2:c.201A>T, NM_001352843.1:c.201A>T, NM_001352842.2:c.201A>T, NM_001352842.1:c.201A>T, NM_001352835.2:c.201A>T, NM_001352835.1:c.201A>T, NM_001352869.2:c.96A>T, NM_001352869.1:c.96A>T, NM_001352854.2:c.201A>T, NM_001352854.1:c.201A>T, NM_001352830.2:c.201A>T, NM_001352830.1:c.201A>T, NM_001352838.2:c.201A>T, NM_001352838.1:c.201A>T, NM_001352851.2:c.201A>T, NM_001352851.1:c.201A>T, NM_001352834.2:c.201A>T, NM_001352834.1:c.201A>T, NM_001352832.2:c.201A>T, NM_001352832.1:c.201A>T, NM_001352849.2:c.201A>T, NM_001352849.1:c.201A>T, NM_001352840.2:c.201A>T, NM_001352840.1:c.201A>T, NM_001352845.2:c.201A>T, NM_001352845.1:c.201A>T, NM_001352859.2:c.201A>T, NM_001352859.1:c.201A>T, NM_001352856.2:c.201A>T, NM_001352856.1:c.201A>T, NM_001352841.2:c.201A>T, NM_001352841.1:c.201A>T, NM_001352833.2:c.201A>T, NM_001352833.1:c.201A>T, NM_001352858.2:c.201A>T, NM_001352858.1:c.201A>T, NM_001352844.2:c.201A>T, NM_001352844.1:c.201A>T, NM_001352860.2:c.201A>T, NM_001352860.1:c.201A>T, NM_001352862.2:c.96A>T, NM_001352862.1:c.96A>T, NM_001352875.2:c.201A>T, NM_001352875.1:c.201A>T, XM_024447349.2:c.201A>T, XM_024447349.1:c.201A>T, NM_001352870.2:c.201A>T, NM_001352870.1:c.201A>T, NM_001352847.2:c.201A>T, NM_001352847.1:c.201A>T, NM_001352874.2:c.201A>T, NM_001352874.1:c.201A>T, NM_001352872.2:c.201A>T, NM_001352872.1:c.201A>T, NM_001352855.2:c.201A>T, NM_001352855.1:c.201A>T, NM_001352836.2:c.201A>T, NM_001352836.1:c.201A>T, NM_001352839.2:c.201A>T, NM_001352839.1:c.201A>T, NM_001352852.2:c.201A>T, NM_001352852.1:c.201A>T, NM_001352848.2:c.201A>T, NM_001352848.1:c.201A>T, NM_001352871.2:c.201A>T, NM_001352871.1:c.201A>T, NM_001352873.2:c.201A>T, NM_001352873.1:c.201A>T, NM_001352876.2:c.201A>T, NM_001352876.1:c.201A>T, XM_047422484.1:c.201A>T, XM_047422486.1:c.201A>T, XM_047422485.1:c.201A>T, XM_047422487.1:c.201A>T, NP_055497.1:p.Lys67Asn, NP_001339757.1:p.Lys67Asn, NP_001339760.1:p.Lys67Asn, NP_001339792.1:p.Lys32Asn, NP_001339766.1:p.Lys67Asn, NP_001339796.1:p.Lys32Asn, NP_001339797.1:p.Lys32Asn, NP_001339756.1:p.Lys67Asn, NP_001339793.1:p.Lys32Asn, NP_001339794.1:p.Lys32Asn, NP_001339755.1:p.Lys67Asn, NP_001339786.1:p.Lys67Asn, NP_001339779.1:p.Lys67Asn, NP_001339775.1:p.Lys67Asn, XP_016869547.1:p.Lys67Asn, NP_001339790.1:p.Lys32Asn, NP_001339782.1:p.Lys67Asn, NP_001339758.1:p.Lys67Asn, NP_001339795.1:p.Lys32Asn, NP_001339772.1:p.Lys67Asn, NP_001339771.1:p.Lys67Asn, NP_001339764.1:p.Lys67Asn, NP_001339798.1:p.Lys32Asn, NP_001339783.1:p.Lys67Asn, NP_001339759.1:p.Lys67Asn, NP_001339767.1:p.Lys67Asn, NP_001339780.1:p.Lys67Asn, NP_001339763.1:p.Lys67Asn, NP_001339761.1:p.Lys67Asn, NP_001339778.1:p.Lys67Asn, NP_001339769.1:p.Lys67Asn, NP_001339774.1:p.Lys67Asn, NP_001339788.1:p.Lys67Asn, NP_001339785.1:p.Lys67Asn, NP_001339770.1:p.Lys67Asn, NP_001339762.1:p.Lys67Asn, NP_001339787.1:p.Lys67Asn, NP_001339773.1:p.Lys67Asn, NP_001339789.1:p.Lys67Asn, NP_001339791.1:p.Lys32Asn, NP_001339804.1:p.Lys67Asn, XP_024303117.1:p.Lys67Asn, NP_001339799.1:p.Lys67Asn, NP_001339776.1:p.Lys67Asn, NP_001339803.1:p.Lys67Asn, NP_001339801.1:p.Lys67Asn, NP_001339784.1:p.Lys67Asn, NP_001339765.1:p.Lys67Asn, NP_001339768.1:p.Lys67Asn, NP_001339781.1:p.Lys67Asn, NP_001339777.1:p.Lys67Asn, NP_001339800.1:p.Lys67Asn, NP_001339802.1:p.Lys67Asn, NP_001339805.1:p.Lys67Asn, XP_047278440.1:p.Lys67Asn, XP_047278442.1:p.Lys67Asn, XP_047278441.1:p.Lys67Asn, XP_047278443.1:p.Lys67Asn

                              15.

                              rs1474861769 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:52166857 (GRCh38)
                                8:53079417 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:52166856:A:G
                                Gene:
                                ST18 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000008.11:g.52166857A>G, NC_000008.10:g.53079417A>G, NM_014682.3:c.1199T>C, NM_014682.2:c.1199T>C, NM_001352828.2:c.1199T>C, NM_001352828.1:c.1199T>C, NM_001352877.2:c.140T>C, NM_001352877.1:c.140T>C, NM_001352831.2:c.1199T>C, NM_001352831.1:c.1199T>C, NM_001352863.2:c.1094T>C, NM_001352863.1:c.1094T>C, NM_001352837.2:c.1199T>C, NM_001352837.1:c.1199T>C, NM_001352867.2:c.1094T>C, NM_001352867.1:c.1094T>C, NM_001352868.2:c.1094T>C, NM_001352868.1:c.1094T>C, NM_001352827.2:c.1199T>C, NM_001352827.1:c.1199T>C, NM_001352864.2:c.1094T>C, NM_001352864.1:c.1094T>C, NM_001352865.2:c.1094T>C, NM_001352865.1:c.1094T>C, NM_001352878.2:c.140T>C, NM_001352878.1:c.140T>C, NM_001352826.2:c.1199T>C, NM_001352826.1:c.1199T>C, NM_001352857.2:c.1199T>C, NM_001352857.1:c.1199T>C, NM_001352850.2:c.1199T>C, NM_001352850.1:c.1199T>C, NM_001352846.2:c.1199T>C, NM_001352846.1:c.1199T>C, XM_017014058.2:c.1199T>C, XM_017014058.1:c.1199T>C, NM_001352861.2:c.1094T>C, NM_001352861.1:c.1094T>C, NM_001352853.2:c.1199T>C, NM_001352853.1:c.1199T>C, NM_001352829.2:c.1199T>C, NM_001352829.1:c.1199T>C, NM_001352866.2:c.1094T>C, NM_001352866.1:c.1094T>C, NM_001352843.2:c.1199T>C, NM_001352843.1:c.1199T>C, NM_001352842.2:c.1199T>C, NM_001352842.1:c.1199T>C, NM_001352835.2:c.1199T>C, NM_001352835.1:c.1199T>C, NM_001352869.2:c.1094T>C, NM_001352869.1:c.1094T>C, NM_001352854.2:c.1199T>C, NM_001352854.1:c.1199T>C, NM_001352830.2:c.1199T>C, NM_001352830.1:c.1199T>C, NM_001352838.2:c.1199T>C, NM_001352838.1:c.1199T>C, NM_001352851.2:c.1199T>C, NM_001352851.1:c.1199T>C, NM_001352834.2:c.1199T>C, NM_001352834.1:c.1199T>C, NM_001352832.2:c.1199T>C, NM_001352832.1:c.1199T>C, NM_001352849.2:c.1199T>C, NM_001352849.1:c.1199T>C, NM_001352840.2:c.1199T>C, NM_001352840.1:c.1199T>C, NM_001352845.2:c.1199T>C, NM_001352845.1:c.1199T>C, NM_001352859.2:c.1112T>C, NM_001352859.1:c.1112T>C, NM_001352856.2:c.1199T>C, NM_001352856.1:c.1199T>C, NM_001352841.2:c.1199T>C, NM_001352841.1:c.1199T>C, NM_001352833.2:c.1199T>C, NM_001352833.1:c.1199T>C, NM_001352858.2:c.1112T>C, NM_001352858.1:c.1112T>C, NM_001352844.2:c.1199T>C, NM_001352844.1:c.1199T>C, NM_001352860.2:c.1112T>C, NM_001352860.1:c.1112T>C, NM_001352862.2:c.1094T>C, NM_001352862.1:c.1094T>C, NM_001352875.2:c.1199T>C, NM_001352875.1:c.1199T>C, XM_024447349.2:c.1199T>C, XM_024447349.1:c.1199T>C, NM_001352870.2:c.1199T>C, NM_001352870.1:c.1199T>C, NM_001352847.2:c.1199T>C, NM_001352847.1:c.1199T>C, NM_001352874.2:c.1199T>C, NM_001352874.1:c.1199T>C, NM_001352872.2:c.1199T>C, NM_001352872.1:c.1199T>C, NM_001352855.2:c.1199T>C, NM_001352855.1:c.1199T>C, NM_001352836.2:c.1199T>C, NM_001352836.1:c.1199T>C, NM_001352839.2:c.1199T>C, NM_001352839.1:c.1199T>C, NM_001352852.2:c.1199T>C, NM_001352852.1:c.1199T>C, NM_001352848.2:c.1199T>C, NM_001352848.1:c.1199T>C, NM_001352871.2:c.1199T>C, NM_001352871.1:c.1199T>C, NM_001352873.2:c.1199T>C, NM_001352873.1:c.1199T>C, NM_001352876.2:c.407T>C, NM_001352876.1:c.407T>C, XM_024447350.2:c.140T>C, XM_024447350.1:c.140T>C, XM_047422484.1:c.1199T>C, XM_047422486.1:c.1199T>C, XM_047422485.1:c.1199T>C, XM_047422487.1:c.1199T>C, NP_055497.1:p.Leu400Pro, NP_001339757.1:p.Leu400Pro, NP_001339806.1:p.Leu47Pro, NP_001339760.1:p.Leu400Pro, NP_001339792.1:p.Leu365Pro, NP_001339766.1:p.Leu400Pro, NP_001339796.1:p.Leu365Pro, NP_001339797.1:p.Leu365Pro, NP_001339756.1:p.Leu400Pro, NP_001339793.1:p.Leu365Pro, NP_001339794.1:p.Leu365Pro, NP_001339807.1:p.Leu47Pro, NP_001339755.1:p.Leu400Pro, NP_001339786.1:p.Leu400Pro, NP_001339779.1:p.Leu400Pro, NP_001339775.1:p.Leu400Pro, XP_016869547.1:p.Leu400Pro, NP_001339790.1:p.Leu365Pro, NP_001339782.1:p.Leu400Pro, NP_001339758.1:p.Leu400Pro, NP_001339795.1:p.Leu365Pro, NP_001339772.1:p.Leu400Pro, NP_001339771.1:p.Leu400Pro, NP_001339764.1:p.Leu400Pro, NP_001339798.1:p.Leu365Pro, NP_001339783.1:p.Leu400Pro, NP_001339759.1:p.Leu400Pro, NP_001339767.1:p.Leu400Pro, NP_001339780.1:p.Leu400Pro, NP_001339763.1:p.Leu400Pro, NP_001339761.1:p.Leu400Pro, NP_001339778.1:p.Leu400Pro, NP_001339769.1:p.Leu400Pro, NP_001339774.1:p.Leu400Pro, NP_001339788.1:p.Leu371Pro, NP_001339785.1:p.Leu400Pro, NP_001339770.1:p.Leu400Pro, NP_001339762.1:p.Leu400Pro, NP_001339787.1:p.Leu371Pro, NP_001339773.1:p.Leu400Pro, NP_001339789.1:p.Leu371Pro, NP_001339791.1:p.Leu365Pro, NP_001339804.1:p.Leu400Pro, XP_024303117.1:p.Leu400Pro, NP_001339799.1:p.Leu400Pro, NP_001339776.1:p.Leu400Pro, NP_001339803.1:p.Leu400Pro, NP_001339801.1:p.Leu400Pro, NP_001339784.1:p.Leu400Pro, NP_001339765.1:p.Leu400Pro, NP_001339768.1:p.Leu400Pro, NP_001339781.1:p.Leu400Pro, NP_001339777.1:p.Leu400Pro, NP_001339800.1:p.Leu400Pro, NP_001339802.1:p.Leu400Pro, NP_001339805.1:p.Leu136Pro, XP_024303118.1:p.Leu47Pro, XP_047278440.1:p.Leu400Pro, XP_047278442.1:p.Leu400Pro, XP_047278441.1:p.Leu400Pro, XP_047278443.1:p.Leu400Pro

                                16.

                                rs1473162920 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  8:52214235 (GRCh38)
                                  8:53126795 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:52214234:T:A
                                  Gene:
                                  ST18 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.52214235T>A, NC_000008.10:g.53126795T>A, NM_014682.3:c.23A>T, NM_014682.2:c.23A>T, NM_001352828.2:c.23A>T, NM_001352828.1:c.23A>T, NM_001352877.2:c.-1180A>T, NM_001352877.1:c.-1180A>T, NM_001352831.2:c.23A>T, NM_001352831.1:c.23A>T, NM_001352863.2:c.-138A>T, NM_001352863.1:c.-138A>T, NM_001352837.2:c.23A>T, NM_001352837.1:c.23A>T, NM_001352867.2:c.-297A>T, NM_001352867.1:c.-297A>T, NM_001352868.2:c.-398A>T, NM_001352868.1:c.-398A>T, NM_001352827.2:c.23A>T, NM_001352827.1:c.23A>T, NM_001352864.2:c.-171A>T, NM_001352864.1:c.-171A>T, NM_001352865.2:c.-171A>T, NM_001352865.1:c.-171A>T, NM_001352878.2:c.-1092A>T, NM_001352878.1:c.-1092A>T, NM_001352826.2:c.23A>T, NM_001352826.1:c.23A>T, NM_001352857.2:c.23A>T, NM_001352857.1:c.23A>T, NM_001352850.2:c.23A>T, NM_001352850.1:c.23A>T, NM_001352846.2:c.23A>T, NM_001352846.1:c.23A>T, XM_017014058.2:c.23A>T, XM_017014058.1:c.23A>T, NM_001352861.2:c.-171A>T, NM_001352861.1:c.-171A>T, NM_001352853.2:c.23A>T, NM_001352853.1:c.23A>T, NM_001352829.2:c.23A>T, NM_001352829.1:c.23A>T, NM_001352866.2:c.-171A>T, NM_001352866.1:c.-171A>T, NM_001352843.2:c.23A>T, NM_001352843.1:c.23A>T, NM_001352842.2:c.23A>T, NM_001352842.1:c.23A>T, NM_001352835.2:c.23A>T, NM_001352835.1:c.23A>T, NM_001352869.2:c.-171A>T, NM_001352869.1:c.-171A>T, NM_001352854.2:c.23A>T, NM_001352854.1:c.23A>T, NM_001352830.2:c.23A>T, NM_001352830.1:c.23A>T, NM_001352838.2:c.23A>T, NM_001352838.1:c.23A>T, NM_001352851.2:c.23A>T, NM_001352851.1:c.23A>T, NM_001352834.2:c.23A>T, NM_001352834.1:c.23A>T, NM_001352832.2:c.23A>T, NM_001352832.1:c.23A>T, NM_001352849.2:c.23A>T, NM_001352849.1:c.23A>T, NM_001352840.2:c.23A>T, NM_001352840.1:c.23A>T, NM_001352845.2:c.23A>T, NM_001352845.1:c.23A>T, NM_001352859.2:c.23A>T, NM_001352859.1:c.23A>T, NM_001352856.2:c.23A>T, NM_001352856.1:c.23A>T, NM_001352841.2:c.23A>T, NM_001352841.1:c.23A>T, NM_001352833.2:c.23A>T, NM_001352833.1:c.23A>T, NM_001352858.2:c.23A>T, NM_001352858.1:c.23A>T, NM_001352844.2:c.23A>T, NM_001352844.1:c.23A>T, NM_001352860.2:c.23A>T, NM_001352860.1:c.23A>T, NM_001352862.2:c.-171A>T, NM_001352862.1:c.-171A>T, NM_001352875.2:c.23A>T, NM_001352875.1:c.23A>T, XM_024447349.2:c.23A>T, XM_024447349.1:c.23A>T, NM_001352870.2:c.23A>T, NM_001352870.1:c.23A>T, NM_001352847.2:c.23A>T, NM_001352847.1:c.23A>T, NM_001352874.2:c.23A>T, NM_001352874.1:c.23A>T, NM_001352872.2:c.23A>T, NM_001352872.1:c.23A>T, NM_001352855.2:c.23A>T, NM_001352855.1:c.23A>T, NM_001352836.2:c.23A>T, NM_001352836.1:c.23A>T, NM_001352839.2:c.23A>T, NM_001352839.1:c.23A>T, NM_001352852.2:c.23A>T, NM_001352852.1:c.23A>T, NM_001352848.2:c.23A>T, NM_001352848.1:c.23A>T, NM_001352871.2:c.23A>T, NM_001352871.1:c.23A>T, NM_001352873.2:c.23A>T, NM_001352873.1:c.23A>T, NM_001352876.2:c.23A>T, NM_001352876.1:c.23A>T, XM_047422484.1:c.23A>T, XM_047422486.1:c.23A>T, XM_047422485.1:c.23A>T, XM_047422487.1:c.23A>T, NP_055497.1:p.Lys8Ile, NP_001339757.1:p.Lys8Ile, NP_001339760.1:p.Lys8Ile, NP_001339766.1:p.Lys8Ile, NP_001339756.1:p.Lys8Ile, NP_001339755.1:p.Lys8Ile, NP_001339786.1:p.Lys8Ile, NP_001339779.1:p.Lys8Ile, NP_001339775.1:p.Lys8Ile, XP_016869547.1:p.Lys8Ile, NP_001339782.1:p.Lys8Ile, NP_001339758.1:p.Lys8Ile, NP_001339772.1:p.Lys8Ile, NP_001339771.1:p.Lys8Ile, NP_001339764.1:p.Lys8Ile, NP_001339783.1:p.Lys8Ile, NP_001339759.1:p.Lys8Ile, NP_001339767.1:p.Lys8Ile, NP_001339780.1:p.Lys8Ile, NP_001339763.1:p.Lys8Ile, NP_001339761.1:p.Lys8Ile, NP_001339778.1:p.Lys8Ile, NP_001339769.1:p.Lys8Ile, NP_001339774.1:p.Lys8Ile, NP_001339788.1:p.Lys8Ile, NP_001339785.1:p.Lys8Ile, NP_001339770.1:p.Lys8Ile, NP_001339762.1:p.Lys8Ile, NP_001339787.1:p.Lys8Ile, NP_001339773.1:p.Lys8Ile, NP_001339789.1:p.Lys8Ile, NP_001339804.1:p.Lys8Ile, XP_024303117.1:p.Lys8Ile, NP_001339799.1:p.Lys8Ile, NP_001339776.1:p.Lys8Ile, NP_001339803.1:p.Lys8Ile, NP_001339801.1:p.Lys8Ile, NP_001339784.1:p.Lys8Ile, NP_001339765.1:p.Lys8Ile, NP_001339768.1:p.Lys8Ile, NP_001339781.1:p.Lys8Ile, NP_001339777.1:p.Lys8Ile, NP_001339800.1:p.Lys8Ile, NP_001339802.1:p.Lys8Ile, NP_001339805.1:p.Lys8Ile, XP_047278440.1:p.Lys8Ile, XP_047278442.1:p.Lys8Ile, XP_047278441.1:p.Lys8Ile, XP_047278443.1:p.Lys8Ile

                                  17.

                                  rs1472845832 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:52137442 (GRCh38)
                                    8:53050002 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:52137441:C:T
                                    Gene:
                                    ST18 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.52137442C>T, NC_000008.10:g.53050002C>T, NM_014682.3:c.2210G>A, NM_014682.2:c.2210G>A, NM_001352828.2:c.2210G>A, NM_001352828.1:c.2210G>A, NM_001352877.2:c.1151G>A, NM_001352877.1:c.1151G>A, NM_001352831.2:c.2210G>A, NM_001352831.1:c.2210G>A, NM_001352863.2:c.2105G>A, NM_001352863.1:c.2105G>A, NM_001352837.2:c.2210G>A, NM_001352837.1:c.2210G>A, NM_001352867.2:c.2105G>A, NM_001352867.1:c.2105G>A, NM_001352868.2:c.2105G>A, NM_001352868.1:c.2105G>A, NM_001352827.2:c.2210G>A, NM_001352827.1:c.2210G>A, NM_001352864.2:c.2105G>A, NM_001352864.1:c.2105G>A, NM_001352865.2:c.2105G>A, NM_001352865.1:c.2105G>A, NM_001352878.2:c.1151G>A, NM_001352878.1:c.1151G>A, NM_001352826.2:c.2210G>A, NM_001352826.1:c.2210G>A, NM_001352857.2:c.2210G>A, NM_001352857.1:c.2210G>A, NM_001352850.2:c.2210G>A, NM_001352850.1:c.2210G>A, NM_001352846.2:c.2210G>A, NM_001352846.1:c.2210G>A, XM_017014058.2:c.2210G>A, XM_017014058.1:c.2210G>A, NM_001352861.2:c.2105G>A, NM_001352861.1:c.2105G>A, NM_001352853.2:c.2210G>A, NM_001352853.1:c.2210G>A, NM_001352829.2:c.2210G>A, NM_001352829.1:c.2210G>A, NM_001352866.2:c.2105G>A, NM_001352866.1:c.2105G>A, NM_001352843.2:c.2210G>A, NM_001352843.1:c.2210G>A, NM_001352842.2:c.2210G>A, NM_001352842.1:c.2210G>A, NM_001352835.2:c.2210G>A, NM_001352835.1:c.2210G>A, NM_001352869.2:c.2105G>A, NM_001352869.1:c.2105G>A, NM_001352854.2:c.2210G>A, NM_001352854.1:c.2210G>A, NM_001352830.2:c.2210G>A, NM_001352830.1:c.2210G>A, NM_001352838.2:c.2210G>A, NM_001352838.1:c.2210G>A, NM_001352851.2:c.2210G>A, NM_001352851.1:c.2210G>A, NM_001352834.2:c.2210G>A, NM_001352834.1:c.2210G>A, NM_001352832.2:c.2210G>A, NM_001352832.1:c.2210G>A, NM_001352849.2:c.2210G>A, NM_001352849.1:c.2210G>A, NM_001352840.2:c.2210G>A, NM_001352840.1:c.2210G>A, NM_001352845.2:c.2210G>A, NM_001352845.1:c.2210G>A, NM_001352859.2:c.2123G>A, NM_001352859.1:c.2123G>A, NM_001352856.2:c.2210G>A, NM_001352856.1:c.2210G>A, NM_001352841.2:c.2210G>A, NM_001352841.1:c.2210G>A, NM_001352833.2:c.2210G>A, NM_001352833.1:c.2210G>A, NM_001352858.2:c.2123G>A, NM_001352858.1:c.2123G>A, NM_001352844.2:c.2210G>A, NM_001352844.1:c.2210G>A, NM_001352860.2:c.2123G>A, NM_001352860.1:c.2123G>A, NM_001352862.2:c.2105G>A, NM_001352862.1:c.2105G>A, NM_001352875.2:c.1964G>A, NM_001352875.1:c.1964G>A, XM_024447349.2:c.2210G>A, XM_024447349.1:c.2210G>A, NM_001352870.2:c.1964G>A, NM_001352870.1:c.1964G>A, NM_001352847.2:c.2210G>A, NM_001352847.1:c.2210G>A, NM_001352874.2:c.1964G>A, NM_001352874.1:c.1964G>A, NM_001352872.2:c.1964G>A, NM_001352872.1:c.1964G>A, NM_001352855.2:c.2210G>A, NM_001352855.1:c.2210G>A, NM_001352836.2:c.2210G>A, NM_001352836.1:c.2210G>A, NM_001352839.2:c.2210G>A, NM_001352839.1:c.2210G>A, NM_001352852.2:c.2210G>A, NM_001352852.1:c.2210G>A, NM_001352848.2:c.2210G>A, NM_001352848.1:c.2210G>A, NM_001352871.2:c.1964G>A, NM_001352871.1:c.1964G>A, NM_001352873.2:c.1964G>A, NM_001352873.1:c.1964G>A, NM_001352876.2:c.1172G>A, NM_001352876.1:c.1172G>A, XM_024447350.2:c.1151G>A, XM_024447350.1:c.1151G>A, XM_047422484.1:c.2210G>A, XM_047422486.1:c.1964G>A, XM_047422485.1:c.1964G>A, XM_047422487.1:c.1964G>A, NP_055497.1:p.Gly737Glu, NP_001339757.1:p.Gly737Glu, NP_001339806.1:p.Gly384Glu, NP_001339760.1:p.Gly737Glu, NP_001339792.1:p.Gly702Glu, NP_001339766.1:p.Gly737Glu, NP_001339796.1:p.Gly702Glu, NP_001339797.1:p.Gly702Glu, NP_001339756.1:p.Gly737Glu, NP_001339793.1:p.Gly702Glu, NP_001339794.1:p.Gly702Glu, NP_001339807.1:p.Gly384Glu, NP_001339755.1:p.Gly737Glu, NP_001339786.1:p.Gly737Glu, NP_001339779.1:p.Gly737Glu, NP_001339775.1:p.Gly737Glu, XP_016869547.1:p.Gly737Glu, NP_001339790.1:p.Gly702Glu, NP_001339782.1:p.Gly737Glu, NP_001339758.1:p.Gly737Glu, NP_001339795.1:p.Gly702Glu, NP_001339772.1:p.Gly737Glu, NP_001339771.1:p.Gly737Glu, NP_001339764.1:p.Gly737Glu, NP_001339798.1:p.Gly702Glu, NP_001339783.1:p.Gly737Glu, NP_001339759.1:p.Gly737Glu, NP_001339767.1:p.Gly737Glu, NP_001339780.1:p.Gly737Glu, NP_001339763.1:p.Gly737Glu, NP_001339761.1:p.Gly737Glu, NP_001339778.1:p.Gly737Glu, NP_001339769.1:p.Gly737Glu, NP_001339774.1:p.Gly737Glu, NP_001339788.1:p.Gly708Glu, NP_001339785.1:p.Gly737Glu, NP_001339770.1:p.Gly737Glu, NP_001339762.1:p.Gly737Glu, NP_001339787.1:p.Gly708Glu, NP_001339773.1:p.Gly737Glu, NP_001339789.1:p.Gly708Glu, NP_001339791.1:p.Gly702Glu, NP_001339804.1:p.Gly655Glu, XP_024303117.1:p.Gly737Glu, NP_001339799.1:p.Gly655Glu, NP_001339776.1:p.Gly737Glu, NP_001339803.1:p.Gly655Glu, NP_001339801.1:p.Gly655Glu, NP_001339784.1:p.Gly737Glu, NP_001339765.1:p.Gly737Glu, NP_001339768.1:p.Gly737Glu, NP_001339781.1:p.Gly737Glu, NP_001339777.1:p.Gly737Glu, NP_001339800.1:p.Gly655Glu, NP_001339802.1:p.Gly655Glu, NP_001339805.1:p.Gly391Glu, XP_024303118.1:p.Gly384Glu, XP_047278440.1:p.Gly737Glu, XP_047278442.1:p.Gly655Glu, XP_047278441.1:p.Gly655Glu, XP_047278443.1:p.Gly655Glu

                                    18.

                                    rs1471467697 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:52133129 (GRCh38)
                                      8:53045689 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:52133128:C:T
                                      Gene:
                                      ST18 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.52133129C>T, NC_000008.10:g.53045689C>T, NM_014682.3:c.2372G>A, NM_014682.2:c.2372G>A, NM_001352828.2:c.2372G>A, NM_001352828.1:c.2372G>A, NM_001352877.2:c.1313G>A, NM_001352877.1:c.1313G>A, NM_001352831.2:c.2372G>A, NM_001352831.1:c.2372G>A, NM_001352863.2:c.2267G>A, NM_001352863.1:c.2267G>A, NM_001352837.2:c.2372G>A, NM_001352837.1:c.2372G>A, NM_001352867.2:c.2267G>A, NM_001352867.1:c.2267G>A, NM_001352868.2:c.2267G>A, NM_001352868.1:c.2267G>A, NM_001352827.2:c.2372G>A, NM_001352827.1:c.2372G>A, NM_001352864.2:c.2267G>A, NM_001352864.1:c.2267G>A, NM_001352865.2:c.2267G>A, NM_001352865.1:c.2267G>A, NM_001352878.2:c.1313G>A, NM_001352878.1:c.1313G>A, NM_001352826.2:c.2372G>A, NM_001352826.1:c.2372G>A, NM_001352857.2:c.2372G>A, NM_001352857.1:c.2372G>A, NM_001352850.2:c.2372G>A, NM_001352850.1:c.2372G>A, NM_001352846.2:c.2372G>A, NM_001352846.1:c.2372G>A, XM_017014058.2:c.2372G>A, XM_017014058.1:c.2372G>A, NM_001352861.2:c.2267G>A, NM_001352861.1:c.2267G>A, NM_001352853.2:c.2372G>A, NM_001352853.1:c.2372G>A, NM_001352829.2:c.2372G>A, NM_001352829.1:c.2372G>A, NM_001352866.2:c.2267G>A, NM_001352866.1:c.2267G>A, NM_001352843.2:c.2372G>A, NM_001352843.1:c.2372G>A, NM_001352842.2:c.2372G>A, NM_001352842.1:c.2372G>A, NM_001352835.2:c.2372G>A, NM_001352835.1:c.2372G>A, NM_001352869.2:c.2267G>A, NM_001352869.1:c.2267G>A, NM_001352854.2:c.2372G>A, NM_001352854.1:c.2372G>A, NM_001352830.2:c.2372G>A, NM_001352830.1:c.2372G>A, NM_001352838.2:c.2372G>A, NM_001352838.1:c.2372G>A, NM_001352851.2:c.2372G>A, NM_001352851.1:c.2372G>A, NM_001352834.2:c.2372G>A, NM_001352834.1:c.2372G>A, NM_001352832.2:c.2372G>A, NM_001352832.1:c.2372G>A, NM_001352849.2:c.2372G>A, NM_001352849.1:c.2372G>A, NM_001352840.2:c.2372G>A, NM_001352840.1:c.2372G>A, NM_001352845.2:c.2372G>A, NM_001352845.1:c.2372G>A, NM_001352859.2:c.2285G>A, NM_001352859.1:c.2285G>A, NM_001352856.2:c.2372G>A, NM_001352856.1:c.2372G>A, NM_001352841.2:c.2372G>A, NM_001352841.1:c.2372G>A, NM_001352833.2:c.2372G>A, NM_001352833.1:c.2372G>A, NM_001352858.2:c.2285G>A, NM_001352858.1:c.2285G>A, NM_001352844.2:c.2372G>A, NM_001352844.1:c.2372G>A, NM_001352860.2:c.2285G>A, NM_001352860.1:c.2285G>A, NM_001352862.2:c.2267G>A, NM_001352862.1:c.2267G>A, NM_001352875.2:c.2126G>A, NM_001352875.1:c.2126G>A, XM_024447349.2:c.2372G>A, XM_024447349.1:c.2372G>A, NM_001352870.2:c.2126G>A, NM_001352870.1:c.2126G>A, NM_001352847.2:c.2372G>A, NM_001352847.1:c.2372G>A, NM_001352874.2:c.2126G>A, NM_001352874.1:c.2126G>A, NM_001352872.2:c.2126G>A, NM_001352872.1:c.2126G>A, NM_001352855.2:c.2372G>A, NM_001352855.1:c.2372G>A, NM_001352836.2:c.2372G>A, NM_001352836.1:c.2372G>A, NM_001352839.2:c.2372G>A, NM_001352839.1:c.2372G>A, NM_001352852.2:c.2372G>A, NM_001352852.1:c.2372G>A, NM_001352848.2:c.2372G>A, NM_001352848.1:c.2372G>A, NM_001352871.2:c.2126G>A, NM_001352871.1:c.2126G>A, NM_001352873.2:c.2126G>A, NM_001352873.1:c.2126G>A, NM_001352876.2:c.1334G>A, NM_001352876.1:c.1334G>A, XM_024447350.2:c.1313G>A, XM_024447350.1:c.1313G>A, XM_047422484.1:c.2372G>A, XM_047422486.1:c.2126G>A, XM_047422485.1:c.2126G>A, XM_047422487.1:c.2126G>A, NP_055497.1:p.Gly791Glu, NP_001339757.1:p.Gly791Glu, NP_001339806.1:p.Gly438Glu, NP_001339760.1:p.Gly791Glu, NP_001339792.1:p.Gly756Glu, NP_001339766.1:p.Gly791Glu, NP_001339796.1:p.Gly756Glu, NP_001339797.1:p.Gly756Glu, NP_001339756.1:p.Gly791Glu, NP_001339793.1:p.Gly756Glu, NP_001339794.1:p.Gly756Glu, NP_001339807.1:p.Gly438Glu, NP_001339755.1:p.Gly791Glu, NP_001339786.1:p.Gly791Glu, NP_001339779.1:p.Gly791Glu, NP_001339775.1:p.Gly791Glu, XP_016869547.1:p.Gly791Glu, NP_001339790.1:p.Gly756Glu, NP_001339782.1:p.Gly791Glu, NP_001339758.1:p.Gly791Glu, NP_001339795.1:p.Gly756Glu, NP_001339772.1:p.Gly791Glu, NP_001339771.1:p.Gly791Glu, NP_001339764.1:p.Gly791Glu, NP_001339798.1:p.Gly756Glu, NP_001339783.1:p.Gly791Glu, NP_001339759.1:p.Gly791Glu, NP_001339767.1:p.Gly791Glu, NP_001339780.1:p.Gly791Glu, NP_001339763.1:p.Gly791Glu, NP_001339761.1:p.Gly791Glu, NP_001339778.1:p.Gly791Glu, NP_001339769.1:p.Gly791Glu, NP_001339774.1:p.Gly791Glu, NP_001339788.1:p.Gly762Glu, NP_001339785.1:p.Gly791Glu, NP_001339770.1:p.Gly791Glu, NP_001339762.1:p.Gly791Glu, NP_001339787.1:p.Gly762Glu, NP_001339773.1:p.Gly791Glu, NP_001339789.1:p.Gly762Glu, NP_001339791.1:p.Gly756Glu, NP_001339804.1:p.Gly709Glu, XP_024303117.1:p.Gly791Glu, NP_001339799.1:p.Gly709Glu, NP_001339776.1:p.Gly791Glu, NP_001339803.1:p.Gly709Glu, NP_001339801.1:p.Gly709Glu, NP_001339784.1:p.Gly791Glu, NP_001339765.1:p.Gly791Glu, NP_001339768.1:p.Gly791Glu, NP_001339781.1:p.Gly791Glu, NP_001339777.1:p.Gly791Glu, NP_001339800.1:p.Gly709Glu, NP_001339802.1:p.Gly709Glu, NP_001339805.1:p.Gly445Glu, XP_024303118.1:p.Gly438Glu, XP_047278440.1:p.Gly791Glu, XP_047278442.1:p.Gly709Glu, XP_047278441.1:p.Gly709Glu, XP_047278443.1:p.Gly709Glu

                                      19.

                                      rs1471056710 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        8:52172217 (GRCh38)
                                        8:53084777 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:52172216:G:A,NC_000008.11:52172216:G:C
                                        Gene:
                                        ST18 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.52172217G>A, NC_000008.11:g.52172217G>C, NC_000008.10:g.53084777G>A, NC_000008.10:g.53084777G>C, NM_014682.3:c.644C>T, NM_014682.3:c.644C>G, NM_014682.2:c.644C>T, NM_014682.2:c.644C>G, NM_001352828.2:c.644C>T, NM_001352828.2:c.644C>G, NM_001352828.1:c.644C>T, NM_001352828.1:c.644C>G, NM_001352877.2:c.-471C>T, NM_001352877.2:c.-471C>G, NM_001352877.1:c.-471C>T, NM_001352877.1:c.-471C>G, NM_001352831.2:c.644C>T, NM_001352831.2:c.644C>G, NM_001352831.1:c.644C>T, NM_001352831.1:c.644C>G, NM_001352863.2:c.539C>T, NM_001352863.2:c.539C>G, NM_001352863.1:c.539C>T, NM_001352863.1:c.539C>G, NM_001352837.2:c.644C>T, NM_001352837.2:c.644C>G, NM_001352837.1:c.644C>T, NM_001352837.1:c.644C>G, NM_001352867.2:c.539C>T, NM_001352867.2:c.539C>G, NM_001352867.1:c.539C>T, NM_001352867.1:c.539C>G, NM_001352868.2:c.539C>T, NM_001352868.2:c.539C>G, NM_001352868.1:c.539C>T, NM_001352868.1:c.539C>G, NM_001352827.2:c.644C>T, NM_001352827.2:c.644C>G, NM_001352827.1:c.644C>T, NM_001352827.1:c.644C>G, NM_001352864.2:c.539C>T, NM_001352864.2:c.539C>G, NM_001352864.1:c.539C>T, NM_001352864.1:c.539C>G, NM_001352865.2:c.539C>T, NM_001352865.2:c.539C>G, NM_001352865.1:c.539C>T, NM_001352865.1:c.539C>G, NM_001352878.2:c.-471C>T, NM_001352878.2:c.-471C>G, NM_001352878.1:c.-471C>T, NM_001352878.1:c.-471C>G, NM_001352826.2:c.644C>T, NM_001352826.2:c.644C>G, NM_001352826.1:c.644C>T, NM_001352826.1:c.644C>G, NM_001352857.2:c.644C>T, NM_001352857.2:c.644C>G, NM_001352857.1:c.644C>T, NM_001352857.1:c.644C>G, NM_001352850.2:c.644C>T, NM_001352850.2:c.644C>G, NM_001352850.1:c.644C>T, NM_001352850.1:c.644C>G, NM_001352846.2:c.644C>T, NM_001352846.2:c.644C>G, NM_001352846.1:c.644C>T, NM_001352846.1:c.644C>G, XM_017014058.2:c.644C>T, XM_017014058.2:c.644C>G, XM_017014058.1:c.644C>T, XM_017014058.1:c.644C>G, NM_001352861.2:c.539C>T, NM_001352861.2:c.539C>G, NM_001352861.1:c.539C>T, NM_001352861.1:c.539C>G, NM_001352853.2:c.644C>T, NM_001352853.2:c.644C>G, NM_001352853.1:c.644C>T, NM_001352853.1:c.644C>G, NM_001352829.2:c.644C>T, NM_001352829.2:c.644C>G, NM_001352829.1:c.644C>T, NM_001352829.1:c.644C>G, NM_001352866.2:c.539C>T, NM_001352866.2:c.539C>G, NM_001352866.1:c.539C>T, NM_001352866.1:c.539C>G, NM_001352843.2:c.644C>T, NM_001352843.2:c.644C>G, NM_001352843.1:c.644C>T, NM_001352843.1:c.644C>G, NM_001352842.2:c.644C>T, NM_001352842.2:c.644C>G, NM_001352842.1:c.644C>T, NM_001352842.1:c.644C>G, NM_001352835.2:c.644C>T, NM_001352835.2:c.644C>G, NM_001352835.1:c.644C>T, NM_001352835.1:c.644C>G, NM_001352869.2:c.539C>T, NM_001352869.2:c.539C>G, NM_001352869.1:c.539C>T, NM_001352869.1:c.539C>G, NM_001352854.2:c.644C>T, NM_001352854.2:c.644C>G, NM_001352854.1:c.644C>T, NM_001352854.1:c.644C>G, NM_001352830.2:c.644C>T, NM_001352830.2:c.644C>G, NM_001352830.1:c.644C>T, NM_001352830.1:c.644C>G, NM_001352838.2:c.644C>T, NM_001352838.2:c.644C>G, NM_001352838.1:c.644C>T, NM_001352838.1:c.644C>G, NM_001352851.2:c.644C>T, NM_001352851.2:c.644C>G, NM_001352851.1:c.644C>T, NM_001352851.1:c.644C>G, NM_001352834.2:c.644C>T, NM_001352834.2:c.644C>G, NM_001352834.1:c.644C>T, NM_001352834.1:c.644C>G, NM_001352832.2:c.644C>T, NM_001352832.2:c.644C>G, NM_001352832.1:c.644C>T, NM_001352832.1:c.644C>G, NM_001352849.2:c.644C>T, NM_001352849.2:c.644C>G, NM_001352849.1:c.644C>T, NM_001352849.1:c.644C>G, NM_001352840.2:c.644C>T, NM_001352840.2:c.644C>G, NM_001352840.1:c.644C>T, NM_001352840.1:c.644C>G, NM_001352845.2:c.644C>T, NM_001352845.2:c.644C>G, NM_001352845.1:c.644C>T, NM_001352845.1:c.644C>G, NM_001352859.2:c.644C>T, NM_001352859.2:c.644C>G, NM_001352859.1:c.644C>T, NM_001352859.1:c.644C>G, NM_001352856.2:c.644C>T, NM_001352856.2:c.644C>G, NM_001352856.1:c.644C>T, NM_001352856.1:c.644C>G, NM_001352841.2:c.644C>T, NM_001352841.2:c.644C>G, NM_001352841.1:c.644C>T, NM_001352841.1:c.644C>G, NM_001352833.2:c.644C>T, NM_001352833.2:c.644C>G, NM_001352833.1:c.644C>T, NM_001352833.1:c.644C>G, NM_001352858.2:c.644C>T, NM_001352858.2:c.644C>G, NM_001352858.1:c.644C>T, NM_001352858.1:c.644C>G, NM_001352844.2:c.644C>T, NM_001352844.2:c.644C>G, NM_001352844.1:c.644C>T, NM_001352844.1:c.644C>G, NM_001352860.2:c.644C>T, NM_001352860.2:c.644C>G, NM_001352860.1:c.644C>T, NM_001352860.1:c.644C>G, NM_001352862.2:c.539C>T, NM_001352862.2:c.539C>G, NM_001352862.1:c.539C>T, NM_001352862.1:c.539C>G, NM_001352875.2:c.644C>T, NM_001352875.2:c.644C>G, NM_001352875.1:c.644C>T, NM_001352875.1:c.644C>G, XM_024447349.2:c.644C>T, XM_024447349.2:c.644C>G, XM_024447349.1:c.644C>T, XM_024447349.1:c.644C>G, NM_001352870.2:c.644C>T, NM_001352870.2:c.644C>G, NM_001352870.1:c.644C>T, NM_001352870.1:c.644C>G, NM_001352847.2:c.644C>T, NM_001352847.2:c.644C>G, NM_001352847.1:c.644C>T, NM_001352847.1:c.644C>G, NM_001352874.2:c.644C>T, NM_001352874.2:c.644C>G, NM_001352874.1:c.644C>T, NM_001352874.1:c.644C>G, NM_001352872.2:c.644C>T, NM_001352872.2:c.644C>G, NM_001352872.1:c.644C>T, NM_001352872.1:c.644C>G, NM_001352855.2:c.644C>T, NM_001352855.2:c.644C>G, NM_001352855.1:c.644C>T, NM_001352855.1:c.644C>G, NM_001352836.2:c.644C>T, NM_001352836.2:c.644C>G, NM_001352836.1:c.644C>T, NM_001352836.1:c.644C>G, NM_001352839.2:c.644C>T, NM_001352839.2:c.644C>G, NM_001352839.1:c.644C>T, NM_001352839.1:c.644C>G, NM_001352852.2:c.644C>T, NM_001352852.2:c.644C>G, NM_001352852.1:c.644C>T, NM_001352852.1:c.644C>G, NM_001352848.2:c.644C>T, NM_001352848.2:c.644C>G, NM_001352848.1:c.644C>T, NM_001352848.1:c.644C>G, NM_001352871.2:c.644C>T, NM_001352871.2:c.644C>G, NM_001352871.1:c.644C>T, NM_001352871.1:c.644C>G, NM_001352873.2:c.644C>T, NM_001352873.2:c.644C>G, NM_001352873.1:c.644C>T, NM_001352873.1:c.644C>G, XM_047422484.1:c.644C>T, XM_047422484.1:c.644C>G, XM_047422486.1:c.644C>T, XM_047422486.1:c.644C>G, XM_047422485.1:c.644C>T, XM_047422485.1:c.644C>G, XM_047422487.1:c.644C>T, XM_047422487.1:c.644C>G, NP_055497.1:p.Pro215Leu, NP_055497.1:p.Pro215Arg, NP_001339757.1:p.Pro215Leu, NP_001339757.1:p.Pro215Arg, NP_001339760.1:p.Pro215Leu, NP_001339760.1:p.Pro215Arg, NP_001339792.1:p.Pro180Leu, NP_001339792.1:p.Pro180Arg, NP_001339766.1:p.Pro215Leu, NP_001339766.1:p.Pro215Arg, NP_001339796.1:p.Pro180Leu, NP_001339796.1:p.Pro180Arg, NP_001339797.1:p.Pro180Leu, NP_001339797.1:p.Pro180Arg, NP_001339756.1:p.Pro215Leu, NP_001339756.1:p.Pro215Arg, NP_001339793.1:p.Pro180Leu, NP_001339793.1:p.Pro180Arg, NP_001339794.1:p.Pro180Leu, NP_001339794.1:p.Pro180Arg, NP_001339755.1:p.Pro215Leu, NP_001339755.1:p.Pro215Arg, NP_001339786.1:p.Pro215Leu, NP_001339786.1:p.Pro215Arg, NP_001339779.1:p.Pro215Leu, NP_001339779.1:p.Pro215Arg, NP_001339775.1:p.Pro215Leu, NP_001339775.1:p.Pro215Arg, XP_016869547.1:p.Pro215Leu, XP_016869547.1:p.Pro215Arg, NP_001339790.1:p.Pro180Leu, NP_001339790.1:p.Pro180Arg, NP_001339782.1:p.Pro215Leu, NP_001339782.1:p.Pro215Arg, NP_001339758.1:p.Pro215Leu, NP_001339758.1:p.Pro215Arg, NP_001339795.1:p.Pro180Leu, NP_001339795.1:p.Pro180Arg, NP_001339772.1:p.Pro215Leu, NP_001339772.1:p.Pro215Arg, NP_001339771.1:p.Pro215Leu, NP_001339771.1:p.Pro215Arg, NP_001339764.1:p.Pro215Leu, NP_001339764.1:p.Pro215Arg, NP_001339798.1:p.Pro180Leu, NP_001339798.1:p.Pro180Arg, NP_001339783.1:p.Pro215Leu, NP_001339783.1:p.Pro215Arg, NP_001339759.1:p.Pro215Leu, NP_001339759.1:p.Pro215Arg, NP_001339767.1:p.Pro215Leu, NP_001339767.1:p.Pro215Arg, NP_001339780.1:p.Pro215Leu, NP_001339780.1:p.Pro215Arg, NP_001339763.1:p.Pro215Leu, NP_001339763.1:p.Pro215Arg, NP_001339761.1:p.Pro215Leu, NP_001339761.1:p.Pro215Arg, NP_001339778.1:p.Pro215Leu, NP_001339778.1:p.Pro215Arg, NP_001339769.1:p.Pro215Leu, NP_001339769.1:p.Pro215Arg, NP_001339774.1:p.Pro215Leu, NP_001339774.1:p.Pro215Arg, NP_001339788.1:p.Pro215Leu, NP_001339788.1:p.Pro215Arg, NP_001339785.1:p.Pro215Leu, NP_001339785.1:p.Pro215Arg, NP_001339770.1:p.Pro215Leu, NP_001339770.1:p.Pro215Arg, NP_001339762.1:p.Pro215Leu, NP_001339762.1:p.Pro215Arg, NP_001339787.1:p.Pro215Leu, NP_001339787.1:p.Pro215Arg, NP_001339773.1:p.Pro215Leu, NP_001339773.1:p.Pro215Arg, NP_001339789.1:p.Pro215Leu, NP_001339789.1:p.Pro215Arg, NP_001339791.1:p.Pro180Leu, NP_001339791.1:p.Pro180Arg, NP_001339804.1:p.Pro215Leu, NP_001339804.1:p.Pro215Arg, XP_024303117.1:p.Pro215Leu, XP_024303117.1:p.Pro215Arg, NP_001339799.1:p.Pro215Leu, NP_001339799.1:p.Pro215Arg, NP_001339776.1:p.Pro215Leu, NP_001339776.1:p.Pro215Arg, NP_001339803.1:p.Pro215Leu, NP_001339803.1:p.Pro215Arg, NP_001339801.1:p.Pro215Leu, NP_001339801.1:p.Pro215Arg, NP_001339784.1:p.Pro215Leu, NP_001339784.1:p.Pro215Arg, NP_001339765.1:p.Pro215Leu, NP_001339765.1:p.Pro215Arg, NP_001339768.1:p.Pro215Leu, NP_001339768.1:p.Pro215Arg, NP_001339781.1:p.Pro215Leu, NP_001339781.1:p.Pro215Arg, NP_001339777.1:p.Pro215Leu, NP_001339777.1:p.Pro215Arg, NP_001339800.1:p.Pro215Leu, NP_001339800.1:p.Pro215Arg, NP_001339802.1:p.Pro215Leu, NP_001339802.1:p.Pro215Arg, XP_047278440.1:p.Pro215Leu, XP_047278440.1:p.Pro215Arg, XP_047278442.1:p.Pro215Leu, XP_047278442.1:p.Pro215Arg, XP_047278441.1:p.Pro215Leu, XP_047278441.1:p.Pro215Arg, XP_047278443.1:p.Pro215Leu, XP_047278443.1:p.Pro215Arg

                                        20.

                                        rs1470852932 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          8:52149927 (GRCh38)
                                          8:53062487 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:52149926:T:A
                                          Gene:
                                          ST18 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.52149927T>A, NC_000008.10:g.53062487T>A, NM_014682.3:c.1857A>T, NM_014682.2:c.1857A>T, NM_001352828.2:c.1857A>T, NM_001352828.1:c.1857A>T, NM_001352877.2:c.798A>T, NM_001352877.1:c.798A>T, NM_001352831.2:c.1857A>T, NM_001352831.1:c.1857A>T, NM_001352863.2:c.1752A>T, NM_001352863.1:c.1752A>T, NM_001352837.2:c.1857A>T, NM_001352837.1:c.1857A>T, NM_001352867.2:c.1752A>T, NM_001352867.1:c.1752A>T, NM_001352868.2:c.1752A>T, NM_001352868.1:c.1752A>T, NM_001352827.2:c.1857A>T, NM_001352827.1:c.1857A>T, NM_001352864.2:c.1752A>T, NM_001352864.1:c.1752A>T, NM_001352865.2:c.1752A>T, NM_001352865.1:c.1752A>T, NM_001352878.2:c.798A>T, NM_001352878.1:c.798A>T, NM_001352826.2:c.1857A>T, NM_001352826.1:c.1857A>T, NM_001352857.2:c.1857A>T, NM_001352857.1:c.1857A>T, NM_001352850.2:c.1857A>T, NM_001352850.1:c.1857A>T, NM_001352846.2:c.1857A>T, NM_001352846.1:c.1857A>T, XM_017014058.2:c.1857A>T, XM_017014058.1:c.1857A>T, NM_001352861.2:c.1752A>T, NM_001352861.1:c.1752A>T, NM_001352853.2:c.1857A>T, NM_001352853.1:c.1857A>T, NM_001352829.2:c.1857A>T, NM_001352829.1:c.1857A>T, NM_001352866.2:c.1752A>T, NM_001352866.1:c.1752A>T, NM_001352843.2:c.1857A>T, NM_001352843.1:c.1857A>T, NM_001352842.2:c.1857A>T, NM_001352842.1:c.1857A>T, NM_001352835.2:c.1857A>T, NM_001352835.1:c.1857A>T, NM_001352869.2:c.1752A>T, NM_001352869.1:c.1752A>T, NM_001352854.2:c.1857A>T, NM_001352854.1:c.1857A>T, NM_001352830.2:c.1857A>T, NM_001352830.1:c.1857A>T, NM_001352838.2:c.1857A>T, NM_001352838.1:c.1857A>T, NM_001352851.2:c.1857A>T, NM_001352851.1:c.1857A>T, NM_001352834.2:c.1857A>T, NM_001352834.1:c.1857A>T, NM_001352832.2:c.1857A>T, NM_001352832.1:c.1857A>T, NM_001352849.2:c.1857A>T, NM_001352849.1:c.1857A>T, NM_001352840.2:c.1857A>T, NM_001352840.1:c.1857A>T, NM_001352845.2:c.1857A>T, NM_001352845.1:c.1857A>T, NM_001352859.2:c.1770A>T, NM_001352859.1:c.1770A>T, NM_001352856.2:c.1857A>T, NM_001352856.1:c.1857A>T, NM_001352841.2:c.1857A>T, NM_001352841.1:c.1857A>T, NM_001352833.2:c.1857A>T, NM_001352833.1:c.1857A>T, NM_001352858.2:c.1770A>T, NM_001352858.1:c.1770A>T, NM_001352844.2:c.1857A>T, NM_001352844.1:c.1857A>T, NM_001352860.2:c.1770A>T, NM_001352860.1:c.1770A>T, NM_001352862.2:c.1752A>T, NM_001352862.1:c.1752A>T, XM_024447349.2:c.1857A>T, XM_024447349.1:c.1857A>T, NM_001352847.2:c.1857A>T, NM_001352847.1:c.1857A>T, NM_001352855.2:c.1857A>T, NM_001352855.1:c.1857A>T, NM_001352836.2:c.1857A>T, NM_001352836.1:c.1857A>T, NM_001352839.2:c.1857A>T, NM_001352839.1:c.1857A>T, NM_001352852.2:c.1857A>T, NM_001352852.1:c.1857A>T, NM_001352848.2:c.1857A>T, NM_001352848.1:c.1857A>T, XM_024447350.2:c.798A>T, XM_024447350.1:c.798A>T, XM_047422484.1:c.1857A>T, NP_055497.1:p.Lys619Asn, NP_001339757.1:p.Lys619Asn, NP_001339806.1:p.Lys266Asn, NP_001339760.1:p.Lys619Asn, NP_001339792.1:p.Lys584Asn, NP_001339766.1:p.Lys619Asn, NP_001339796.1:p.Lys584Asn, NP_001339797.1:p.Lys584Asn, NP_001339756.1:p.Lys619Asn, NP_001339793.1:p.Lys584Asn, NP_001339794.1:p.Lys584Asn, NP_001339807.1:p.Lys266Asn, NP_001339755.1:p.Lys619Asn, NP_001339786.1:p.Lys619Asn, NP_001339779.1:p.Lys619Asn, NP_001339775.1:p.Lys619Asn, XP_016869547.1:p.Lys619Asn, NP_001339790.1:p.Lys584Asn, NP_001339782.1:p.Lys619Asn, NP_001339758.1:p.Lys619Asn, NP_001339795.1:p.Lys584Asn, NP_001339772.1:p.Lys619Asn, NP_001339771.1:p.Lys619Asn, NP_001339764.1:p.Lys619Asn, NP_001339798.1:p.Lys584Asn, NP_001339783.1:p.Lys619Asn, NP_001339759.1:p.Lys619Asn, NP_001339767.1:p.Lys619Asn, NP_001339780.1:p.Lys619Asn, NP_001339763.1:p.Lys619Asn, NP_001339761.1:p.Lys619Asn, NP_001339778.1:p.Lys619Asn, NP_001339769.1:p.Lys619Asn, NP_001339774.1:p.Lys619Asn, NP_001339788.1:p.Lys590Asn, NP_001339785.1:p.Lys619Asn, NP_001339770.1:p.Lys619Asn, NP_001339762.1:p.Lys619Asn, NP_001339787.1:p.Lys590Asn, NP_001339773.1:p.Lys619Asn, NP_001339789.1:p.Lys590Asn, NP_001339791.1:p.Lys584Asn, XP_024303117.1:p.Lys619Asn, NP_001339776.1:p.Lys619Asn, NP_001339784.1:p.Lys619Asn, NP_001339765.1:p.Lys619Asn, NP_001339768.1:p.Lys619Asn, NP_001339781.1:p.Lys619Asn, NP_001339777.1:p.Lys619Asn, XP_024303118.1:p.Lys266Asn, XP_047278440.1:p.Lys619Asn

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