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Items: 1 to 20 of 592

1.

rs1488217455 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    3:8634412 (GRCh38)
    3:8676098 (GRCh37)
    Canonical SPDI:
    NC_000003.12:8634411:C:G,NC_000003.12:8634411:C:T
    Gene:
    SSUH2 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000043/1 (ALFA)
    G=0.000007/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.8634412C>G, NC_000003.12:g.8634412C>T, NC_000003.11:g.8676098C>G, NC_000003.11:g.8676098C>T, NR_046358.3:n.483G>C, NR_046358.3:n.483G>A, NR_046358.2:n.483G>C, NR_046358.2:n.483G>A, NR_046358.1:n.483G>C, NR_046358.1:n.483G>A, XM_017006518.2:c.523G>C, XM_017006518.2:c.523G>A, XM_017006518.1:c.523G>C, XM_017006518.1:c.523G>A, XM_017006512.2:c.544G>C, XM_017006512.2:c.544G>A, XM_017006512.1:c.544G>C, XM_017006512.1:c.544G>A, XM_017006515.2:c.544G>C, XM_017006515.2:c.544G>A, XM_017006515.1:c.544G>C, XM_017006515.1:c.544G>A, XM_017006527.2:c.340G>C, XM_017006527.2:c.340G>A, XM_017006527.1:c.340G>C, XM_017006527.1:c.340G>A, XM_017006513.2:c.544G>C, XM_017006513.2:c.544G>A, XM_017006513.1:c.544G>C, XM_017006513.1:c.544G>A, XM_017006511.2:c.544G>C, XM_017006511.2:c.544G>A, XM_017006511.1:c.544G>C, XM_017006511.1:c.544G>A, XM_017006525.2:c.418G>C, XM_017006525.2:c.418G>A, XM_017006525.1:c.418G>C, XM_017006525.1:c.418G>A, XM_017006514.2:c.544G>C, XM_017006514.2:c.544G>A, XM_017006514.1:c.544G>C, XM_017006514.1:c.544G>A, XM_017006521.2:c.448G>C, XM_017006521.2:c.448G>A, XM_017006521.1:c.448G>C, XM_017006521.1:c.448G>A, XM_017006522.2:c.448G>C, XM_017006522.2:c.448G>A, XM_017006522.1:c.448G>C, XM_017006522.1:c.448G>A, XM_017006524.2:c.421G>C, XM_017006524.2:c.421G>A, XM_017006524.1:c.421G>C, XM_017006524.1:c.421G>A, XM_017006516.2:c.544G>C, XM_017006516.2:c.544G>A, XM_017006516.1:c.544G>C, XM_017006516.1:c.544G>A, XM_017006517.2:c.544G>C, XM_017006517.2:c.544G>A, XM_017006517.1:c.544G>C, XM_017006517.1:c.544G>A, XM_017006523.2:c.448G>C, XM_017006523.2:c.448G>A, XM_017006523.1:c.448G>C, XM_017006523.1:c.448G>A, XM_017006528.2:c.340G>C, XM_017006528.2:c.340G>A, XM_017006528.1:c.340G>C, XM_017006528.1:c.340G>A, XM_017006529.2:c.340G>C, XM_017006529.2:c.340G>A, XM_017006529.1:c.340G>C, XM_017006529.1:c.340G>A, XM_017006510.2:c.466G>C, XM_017006510.2:c.466G>A, XM_017006510.1:c.568G>C, XM_017006510.1:c.568G>A, XM_017006520.2:c.340G>C, XM_017006520.2:c.340G>A, XM_017006520.1:c.502G>C, XM_017006520.1:c.502G>A, XM_017006519.2:c.466G>C, XM_017006519.2:c.466G>A, XM_017006519.1:c.568G>C, XM_017006519.1:c.568G>A, XM_017006526.2:c.418G>C, XM_017006526.2:c.418G>A, XM_017006526.1:c.418G>C, XM_017006526.1:c.418G>A, XM_047448237.1:c.544G>C, XM_047448237.1:c.544G>A, XM_047448230.1:c.544G>C, XM_047448230.1:c.544G>A, XM_047448234.1:c.544G>C, XM_047448234.1:c.544G>A, XM_047448231.1:c.544G>C, XM_047448231.1:c.544G>A, XM_047448236.1:c.544G>C, XM_047448236.1:c.544G>A, XM_047448235.1:c.544G>C, XM_047448235.1:c.544G>A, XM_047448233.1:c.544G>C, XM_047448233.1:c.544G>A, XP_016862007.1:p.Ala175Pro, XP_016862007.1:p.Ala175Thr, XP_016862001.1:p.Ala182Pro, XP_016862001.1:p.Ala182Thr, XP_016862004.1:p.Ala182Pro, XP_016862004.1:p.Ala182Thr, XP_016862016.1:p.Ala114Pro, XP_016862016.1:p.Ala114Thr, XP_016862002.1:p.Ala182Pro, XP_016862002.1:p.Ala182Thr, XP_016862000.1:p.Ala182Pro, XP_016862000.1:p.Ala182Thr, XP_016862014.1:p.Ala140Pro, XP_016862014.1:p.Ala140Thr, XP_016862003.1:p.Ala182Pro, XP_016862003.1:p.Ala182Thr, XP_016862010.1:p.Ala150Pro, XP_016862010.1:p.Ala150Thr, XP_016862011.1:p.Ala150Pro, XP_016862011.1:p.Ala150Thr, XP_016862013.1:p.Ala141Pro, XP_016862013.1:p.Ala141Thr, XP_016862005.1:p.Ala182Pro, XP_016862005.1:p.Ala182Thr, XP_016862006.1:p.Ala182Pro, XP_016862006.1:p.Ala182Thr, XP_016862012.1:p.Ala150Pro, XP_016862012.1:p.Ala150Thr, XP_016862017.1:p.Ala114Pro, XP_016862017.1:p.Ala114Thr, XP_016862018.1:p.Ala114Pro, XP_016862018.1:p.Ala114Thr, XP_016861999.2:p.Ala156Pro, XP_016861999.2:p.Ala156Thr, XP_016862009.2:p.Ala114Pro, XP_016862009.2:p.Ala114Thr, XP_016862008.2:p.Ala156Pro, XP_016862008.2:p.Ala156Thr, XP_016862015.1:p.Ala140Pro, XP_016862015.1:p.Ala140Thr, XP_047304193.1:p.Ala182Pro, XP_047304193.1:p.Ala182Thr, XP_047304186.1:p.Ala182Pro, XP_047304186.1:p.Ala182Thr, XP_047304190.1:p.Ala182Pro, XP_047304190.1:p.Ala182Thr, XP_047304187.1:p.Ala182Pro, XP_047304187.1:p.Ala182Thr, XP_047304192.1:p.Ala182Pro, XP_047304192.1:p.Ala182Thr, XP_047304191.1:p.Ala182Pro, XP_047304191.1:p.Ala182Thr, XP_047304189.1:p.Ala182Pro, XP_047304189.1:p.Ala182Thr

    2.

    rs1487572677 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:8633802 (GRCh38)
      3:8675488 (GRCh37)
      Canonical SPDI:
      NC_000003.12:8633801:G:A
      Gene:
      SSUH2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000003.12:g.8633802G>A, NC_000003.11:g.8675488G>A, NM_015931.4:c.-17C>T, NM_015931.3:c.137C>T, NM_015931.2:c.137C>T, XM_017006518.2:c.731C>T, XM_017006518.1:c.731C>T, XM_017006512.2:c.752C>T, XM_017006512.1:c.752C>T, XM_017006515.2:c.752C>T, XM_017006515.1:c.752C>T, XM_017006533.2:c.527C>T, XM_017006533.1:c.527C>T, XM_017006527.2:c.548C>T, XM_017006527.1:c.548C>T, XM_017006534.2:c.473C>T, XM_017006534.1:c.473C>T, XM_017006513.2:c.752C>T, XM_017006513.1:c.752C>T, XM_017006511.2:c.752C>T, XM_017006511.1:c.752C>T, XM_017006525.2:c.626C>T, XM_017006525.1:c.626C>T, XM_017006514.2:c.752C>T, XM_017006514.1:c.752C>T, XM_017006521.2:c.656C>T, XM_017006521.1:c.656C>T, XM_017006522.2:c.656C>T, XM_017006522.1:c.656C>T, XM_017006524.2:c.629C>T, XM_017006524.1:c.629C>T, XM_017006516.2:c.752C>T, XM_017006516.1:c.752C>T, XM_017006517.2:c.752C>T, XM_017006517.1:c.752C>T, XM_017006523.2:c.656C>T, XM_017006523.1:c.656C>T, XM_017006528.2:c.548C>T, XM_017006528.1:c.548C>T, XM_017006529.2:c.548C>T, XM_017006529.1:c.548C>T, XM_017006510.2:c.674C>T, XM_017006510.1:c.776C>T, XM_017006520.2:c.548C>T, XM_017006520.1:c.710C>T, XM_017006519.2:c.620C>T, XM_017006519.1:c.722C>T, XM_017006526.2:c.626C>T, XM_017006526.1:c.626C>T, XM_017006541.2:c.137C>T, XM_017006541.1:c.137C>T, XM_017006542.2:c.137C>T, XM_017006542.1:c.137C>T, XM_047448237.1:c.752C>T, XM_047448230.1:c.752C>T, XM_047448234.1:c.752C>T, XM_047448231.1:c.752C>T, XM_047448236.1:c.752C>T, XM_047448235.1:c.752C>T, XM_047448233.1:c.752C>T, XP_016862007.1:p.Pro244Leu, XP_016862001.1:p.Pro251Leu, XP_016862004.1:p.Pro251Leu, XP_016862022.1:p.Pro176Leu, XP_016862016.1:p.Pro183Leu, XP_016862023.1:p.Pro158Leu, XP_016862002.1:p.Pro251Leu, XP_016862000.1:p.Pro251Leu, XP_016862014.1:p.Pro209Leu, XP_016862003.1:p.Pro251Leu, XP_016862010.1:p.Pro219Leu, XP_016862011.1:p.Pro219Leu, XP_016862013.1:p.Pro210Leu, XP_016862005.1:p.Pro251Leu, XP_016862006.1:p.Pro251Leu, XP_016862012.1:p.Pro219Leu, XP_016862017.1:p.Pro183Leu, XP_016862018.1:p.Pro183Leu, XP_016861999.2:p.Pro225Leu, XP_016862009.2:p.Pro183Leu, XP_016862008.2:p.Pro207Leu, XP_016862015.1:p.Pro209Leu, XP_016862030.1:p.Pro46Leu, XP_016862031.1:p.Pro46Leu, XP_047304193.1:p.Pro251Leu, XP_047304186.1:p.Pro251Leu, XP_047304190.1:p.Pro251Leu, XP_047304187.1:p.Pro251Leu, XP_047304192.1:p.Pro251Leu, XP_047304191.1:p.Pro251Leu, XP_047304189.1:p.Pro251Leu

      3.

      rs1486089334 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        3:8634513 (GRCh38)
        3:8676199 (GRCh37)
        Canonical SPDI:
        NC_000003.12:8634512:C:A,NC_000003.12:8634512:C:G,NC_000003.12:8634512:C:T
        Gene:
        SSUH2 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000003.12:g.8634513C>A, NC_000003.12:g.8634513C>G, NC_000003.12:g.8634513C>T, NC_000003.11:g.8676199C>A, NC_000003.11:g.8676199C>G, NC_000003.11:g.8676199C>T, NR_046358.3:n.382G>T, NR_046358.3:n.382G>C, NR_046358.3:n.382G>A, NR_046358.2:n.382G>T, NR_046358.2:n.382G>C, NR_046358.2:n.382G>A, NR_046358.1:n.382G>T, NR_046358.1:n.382G>C, NR_046358.1:n.382G>A, XM_017006518.2:c.422G>T, XM_017006518.2:c.422G>C, XM_017006518.2:c.422G>A, XM_017006518.1:c.422G>T, XM_017006518.1:c.422G>C, XM_017006518.1:c.422G>A, XM_017006512.2:c.443G>T, XM_017006512.2:c.443G>C, XM_017006512.2:c.443G>A, XM_017006512.1:c.443G>T, XM_017006512.1:c.443G>C, XM_017006512.1:c.443G>A, XM_017006515.2:c.443G>T, XM_017006515.2:c.443G>C, XM_017006515.2:c.443G>A, XM_017006515.1:c.443G>T, XM_017006515.1:c.443G>C, XM_017006515.1:c.443G>A, XM_017006527.2:c.239G>T, XM_017006527.2:c.239G>C, XM_017006527.2:c.239G>A, XM_017006527.1:c.239G>T, XM_017006527.1:c.239G>C, XM_017006527.1:c.239G>A, XM_017006513.2:c.443G>T, XM_017006513.2:c.443G>C, XM_017006513.2:c.443G>A, XM_017006513.1:c.443G>T, XM_017006513.1:c.443G>C, XM_017006513.1:c.443G>A, XM_017006511.2:c.443G>T, XM_017006511.2:c.443G>C, XM_017006511.2:c.443G>A, XM_017006511.1:c.443G>T, XM_017006511.1:c.443G>C, XM_017006511.1:c.443G>A, XM_017006525.2:c.317G>T, XM_017006525.2:c.317G>C, XM_017006525.2:c.317G>A, XM_017006525.1:c.317G>T, XM_017006525.1:c.317G>C, XM_017006525.1:c.317G>A, XM_017006514.2:c.443G>T, XM_017006514.2:c.443G>C, XM_017006514.2:c.443G>A, XM_017006514.1:c.443G>T, XM_017006514.1:c.443G>C, XM_017006514.1:c.443G>A, XM_017006521.2:c.347G>T, XM_017006521.2:c.347G>C, XM_017006521.2:c.347G>A, XM_017006521.1:c.347G>T, XM_017006521.1:c.347G>C, XM_017006521.1:c.347G>A, XM_017006522.2:c.347G>T, XM_017006522.2:c.347G>C, XM_017006522.2:c.347G>A, XM_017006522.1:c.347G>T, XM_017006522.1:c.347G>C, XM_017006522.1:c.347G>A, XM_017006524.2:c.320G>T, XM_017006524.2:c.320G>C, XM_017006524.2:c.320G>A, XM_017006524.1:c.320G>T, XM_017006524.1:c.320G>C, XM_017006524.1:c.320G>A, XM_017006516.2:c.443G>T, XM_017006516.2:c.443G>C, XM_017006516.2:c.443G>A, XM_017006516.1:c.443G>T, XM_017006516.1:c.443G>C, XM_017006516.1:c.443G>A, XM_017006517.2:c.443G>T, XM_017006517.2:c.443G>C, XM_017006517.2:c.443G>A, XM_017006517.1:c.443G>T, XM_017006517.1:c.443G>C, XM_017006517.1:c.443G>A, XM_017006523.2:c.347G>T, XM_017006523.2:c.347G>C, XM_017006523.2:c.347G>A, XM_017006523.1:c.347G>T, XM_017006523.1:c.347G>C, XM_017006523.1:c.347G>A, XM_017006528.2:c.239G>T, XM_017006528.2:c.239G>C, XM_017006528.2:c.239G>A, XM_017006528.1:c.239G>T, XM_017006528.1:c.239G>C, XM_017006528.1:c.239G>A, XM_017006529.2:c.239G>T, XM_017006529.2:c.239G>C, XM_017006529.2:c.239G>A, XM_017006529.1:c.239G>T, XM_017006529.1:c.239G>C, XM_017006529.1:c.239G>A, XM_017006510.2:c.365G>T, XM_017006510.2:c.365G>C, XM_017006510.2:c.365G>A, XM_017006510.1:c.467G>T, XM_017006510.1:c.467G>C, XM_017006510.1:c.467G>A, XM_017006520.2:c.239G>T, XM_017006520.2:c.239G>C, XM_017006520.2:c.239G>A, XM_017006520.1:c.401G>T, XM_017006520.1:c.401G>C, XM_017006520.1:c.401G>A, XM_017006519.2:c.365G>T, XM_017006519.2:c.365G>C, XM_017006519.2:c.365G>A, XM_017006519.1:c.467G>T, XM_017006519.1:c.467G>C, XM_017006519.1:c.467G>A, XM_017006526.2:c.317G>T, XM_017006526.2:c.317G>C, XM_017006526.2:c.317G>A, XM_017006526.1:c.317G>T, XM_017006526.1:c.317G>C, XM_017006526.1:c.317G>A, XM_047448237.1:c.443G>T, XM_047448237.1:c.443G>C, XM_047448237.1:c.443G>A, XM_047448230.1:c.443G>T, XM_047448230.1:c.443G>C, XM_047448230.1:c.443G>A, XM_047448234.1:c.443G>T, XM_047448234.1:c.443G>C, XM_047448234.1:c.443G>A, XM_047448231.1:c.443G>T, XM_047448231.1:c.443G>C, XM_047448231.1:c.443G>A, XM_047448236.1:c.443G>T, XM_047448236.1:c.443G>C, XM_047448236.1:c.443G>A, XM_047448235.1:c.443G>T, XM_047448235.1:c.443G>C, XM_047448235.1:c.443G>A, XM_047448233.1:c.443G>T, XM_047448233.1:c.443G>C, XM_047448233.1:c.443G>A, XP_016862007.1:p.Ser141Ile, XP_016862007.1:p.Ser141Thr, XP_016862007.1:p.Ser141Asn, XP_016862001.1:p.Ser148Ile, XP_016862001.1:p.Ser148Thr, XP_016862001.1:p.Ser148Asn, XP_016862004.1:p.Ser148Ile, XP_016862004.1:p.Ser148Thr, XP_016862004.1:p.Ser148Asn, XP_016862016.1:p.Ser80Ile, XP_016862016.1:p.Ser80Thr, XP_016862016.1:p.Ser80Asn, XP_016862002.1:p.Ser148Ile, XP_016862002.1:p.Ser148Thr, XP_016862002.1:p.Ser148Asn, XP_016862000.1:p.Ser148Ile, XP_016862000.1:p.Ser148Thr, XP_016862000.1:p.Ser148Asn, XP_016862014.1:p.Ser106Ile, XP_016862014.1:p.Ser106Thr, XP_016862014.1:p.Ser106Asn, XP_016862003.1:p.Ser148Ile, XP_016862003.1:p.Ser148Thr, XP_016862003.1:p.Ser148Asn, XP_016862010.1:p.Ser116Ile, XP_016862010.1:p.Ser116Thr, XP_016862010.1:p.Ser116Asn, XP_016862011.1:p.Ser116Ile, XP_016862011.1:p.Ser116Thr, XP_016862011.1:p.Ser116Asn, XP_016862013.1:p.Ser107Ile, XP_016862013.1:p.Ser107Thr, XP_016862013.1:p.Ser107Asn, XP_016862005.1:p.Ser148Ile, XP_016862005.1:p.Ser148Thr, XP_016862005.1:p.Ser148Asn, XP_016862006.1:p.Ser148Ile, XP_016862006.1:p.Ser148Thr, XP_016862006.1:p.Ser148Asn, XP_016862012.1:p.Ser116Ile, XP_016862012.1:p.Ser116Thr, XP_016862012.1:p.Ser116Asn, XP_016862017.1:p.Ser80Ile, XP_016862017.1:p.Ser80Thr, XP_016862017.1:p.Ser80Asn, XP_016862018.1:p.Ser80Ile, XP_016862018.1:p.Ser80Thr, XP_016862018.1:p.Ser80Asn, XP_016861999.2:p.Ser122Ile, XP_016861999.2:p.Ser122Thr, XP_016861999.2:p.Ser122Asn, XP_016862009.2:p.Ser80Ile, XP_016862009.2:p.Ser80Thr, XP_016862009.2:p.Ser80Asn, XP_016862008.2:p.Ser122Ile, XP_016862008.2:p.Ser122Thr, XP_016862008.2:p.Ser122Asn, XP_016862015.1:p.Ser106Ile, XP_016862015.1:p.Ser106Thr, XP_016862015.1:p.Ser106Asn, XP_047304193.1:p.Ser148Ile, XP_047304193.1:p.Ser148Thr, XP_047304193.1:p.Ser148Asn, XP_047304186.1:p.Ser148Ile, XP_047304186.1:p.Ser148Thr, XP_047304186.1:p.Ser148Asn, XP_047304190.1:p.Ser148Ile, XP_047304190.1:p.Ser148Thr, XP_047304190.1:p.Ser148Asn, XP_047304187.1:p.Ser148Ile, XP_047304187.1:p.Ser148Thr, XP_047304187.1:p.Ser148Asn, XP_047304192.1:p.Ser148Ile, XP_047304192.1:p.Ser148Thr, XP_047304192.1:p.Ser148Asn, XP_047304191.1:p.Ser148Ile, XP_047304191.1:p.Ser148Thr, XP_047304191.1:p.Ser148Asn, XP_047304189.1:p.Ser148Ile, XP_047304189.1:p.Ser148Thr, XP_047304189.1:p.Ser148Asn

        4.

        rs1483777552 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:8634489 (GRCh38)
          3:8676175 (GRCh37)
          Canonical SPDI:
          NC_000003.12:8634488:G:A
          Gene:
          SSUH2 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_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_000003.12:g.8634489G>A, NC_000003.11:g.8676175G>A, NR_046358.3:n.406C>T, NR_046358.2:n.406C>T, NR_046358.1:n.406C>T, XM_017006518.2:c.446C>T, XM_017006518.1:c.446C>T, XM_017006512.2:c.467C>T, XM_017006512.1:c.467C>T, XM_017006515.2:c.467C>T, XM_017006515.1:c.467C>T, XM_017006527.2:c.263C>T, XM_017006527.1:c.263C>T, XM_017006513.2:c.467C>T, XM_017006513.1:c.467C>T, XM_017006511.2:c.467C>T, XM_017006511.1:c.467C>T, XM_017006525.2:c.341C>T, XM_017006525.1:c.341C>T, XM_017006514.2:c.467C>T, XM_017006514.1:c.467C>T, XM_017006521.2:c.371C>T, XM_017006521.1:c.371C>T, XM_017006522.2:c.371C>T, XM_017006522.1:c.371C>T, XM_017006524.2:c.344C>T, XM_017006524.1:c.344C>T, XM_017006516.2:c.467C>T, XM_017006516.1:c.467C>T, XM_017006517.2:c.467C>T, XM_017006517.1:c.467C>T, XM_017006523.2:c.371C>T, XM_017006523.1:c.371C>T, XM_017006528.2:c.263C>T, XM_017006528.1:c.263C>T, XM_017006529.2:c.263C>T, XM_017006529.1:c.263C>T, XM_017006510.2:c.389C>T, XM_017006510.1:c.491C>T, XM_017006520.2:c.263C>T, XM_017006520.1:c.425C>T, XM_017006519.2:c.389C>T, XM_017006519.1:c.491C>T, XM_017006526.2:c.341C>T, XM_017006526.1:c.341C>T, XM_047448237.1:c.467C>T, XM_047448230.1:c.467C>T, XM_047448234.1:c.467C>T, XM_047448231.1:c.467C>T, XM_047448236.1:c.467C>T, XM_047448235.1:c.467C>T, XM_047448233.1:c.467C>T, XP_016862007.1:p.Ala149Val, XP_016862001.1:p.Ala156Val, XP_016862004.1:p.Ala156Val, XP_016862016.1:p.Ala88Val, XP_016862002.1:p.Ala156Val, XP_016862000.1:p.Ala156Val, XP_016862014.1:p.Ala114Val, XP_016862003.1:p.Ala156Val, XP_016862010.1:p.Ala124Val, XP_016862011.1:p.Ala124Val, XP_016862013.1:p.Ala115Val, XP_016862005.1:p.Ala156Val, XP_016862006.1:p.Ala156Val, XP_016862012.1:p.Ala124Val, XP_016862017.1:p.Ala88Val, XP_016862018.1:p.Ala88Val, XP_016861999.2:p.Ala130Val, XP_016862009.2:p.Ala88Val, XP_016862008.2:p.Ala130Val, XP_016862015.1:p.Ala114Val, XP_047304193.1:p.Ala156Val, XP_047304186.1:p.Ala156Val, XP_047304190.1:p.Ala156Val, XP_047304187.1:p.Ala156Val, XP_047304192.1:p.Ala156Val, XP_047304191.1:p.Ala156Val, XP_047304189.1:p.Ala156Val

          5.

          rs1481283183 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:8623612 (GRCh38)
            3:8665298 (GRCh37)
            Canonical SPDI:
            NC_000003.12:8623611:G:A
            Gene:
            SSUH2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000006/1 (GnomAD_exomes)
            A=0.000035/1 (TOMMO)
            HGVS:
            NC_000003.12:g.8623612G>A, NC_000003.11:g.8665298G>A, NM_015931.4:c.699C>T, NM_015931.3:c.852C>T, NM_015931.2:c.852C>T, NR_046358.3:n.1206C>T, NR_046358.2:n.1206C>T, NR_046358.1:n.1206C>T, NM_001256749.3:c.699C>T, NM_001256749.2:c.699C>T, NM_001256749.1:c.699C>T, NM_001256748.3:c.918C>T, NM_001256748.2:c.918C>T, NM_001256748.1:c.918C>T, XM_017006518.2:c.1446C>T, XM_017006518.1:c.1446C>T, XM_017006512.2:c.1467C>T, XM_017006512.1:c.1467C>T, XM_017006515.2:c.1467C>T, XM_017006515.1:c.1467C>T, XM_017006533.2:c.1242C>T, XM_017006533.1:c.1242C>T, XM_017006527.2:c.1263C>T, XM_017006527.1:c.1263C>T, XM_017006534.2:c.1188C>T, XM_017006534.1:c.1188C>T, XM_017006513.2:c.1467C>T, XM_017006513.1:c.1467C>T, XM_017006511.2:c.1467C>T, XM_017006511.1:c.1467C>T, XM_017006525.2:c.1341C>T, XM_017006525.1:c.1341C>T, XM_017006514.2:c.1467C>T, XM_017006514.1:c.1467C>T, XM_017006521.2:c.1371C>T, XM_017006521.1:c.1371C>T, XM_017006522.2:c.1371C>T, XM_017006522.1:c.1371C>T, XM_017006524.2:c.1344C>T, XM_017006524.1:c.1344C>T, XM_017006516.2:c.1467C>T, XM_017006516.1:c.1467C>T, XM_017006517.2:c.1467C>T, XM_017006517.1:c.1467C>T, XM_017006523.2:c.1371C>T, XM_017006523.1:c.1371C>T, XM_017006528.2:c.1263C>T, XM_017006528.1:c.1263C>T, XM_017006529.2:c.1263C>T, XM_017006529.1:c.1263C>T, XM_017006510.2:c.1389C>T, XM_017006510.1:c.1491C>T, XM_017006520.2:c.1263C>T, XM_017006520.1:c.1425C>T, XM_017006519.2:c.1335C>T, XM_017006519.1:c.1437C>T, XM_017006526.2:c.1341C>T, XM_017006526.1:c.1341C>T, XM_017006541.2:c.852C>T, XM_017006541.1:c.852C>T, XM_017006542.2:c.852C>T, XM_017006542.1:c.852C>T, XM_047448237.1:c.1467C>T, XM_047448230.1:c.1467C>T, XM_047448234.1:c.1467C>T, XM_047448231.1:c.1467C>T, XM_047448236.1:c.1467C>T, XM_047448235.1:c.1467C>T, XM_047448233.1:c.1467C>T

            6.

            rs1480599067 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              3:8626239 (GRCh38)
              3:8667925 (GRCh37)
              Canonical SPDI:
              NC_000003.12:8626238:C:A,NC_000003.12:8626238:C:T
              Gene:
              SSUH2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              NC_000003.12:g.8626239C>A, NC_000003.12:g.8626239C>T, NC_000003.11:g.8667925C>A, NC_000003.11:g.8667925C>T, NM_015931.4:c.538G>T, NM_015931.4:c.538G>A, NM_015931.3:c.691G>T, NM_015931.3:c.691G>A, NM_015931.2:c.691G>T, NM_015931.2:c.691G>A, NR_046358.3:n.1045G>T, NR_046358.3:n.1045G>A, NR_046358.2:n.1045G>T, NR_046358.2:n.1045G>A, NR_046358.1:n.1045G>T, NR_046358.1:n.1045G>A, NM_001256749.3:c.538G>T, NM_001256749.3:c.538G>A, NM_001256749.2:c.538G>T, NM_001256749.2:c.538G>A, NM_001256749.1:c.538G>T, NM_001256749.1:c.538G>A, NM_001256748.3:c.757G>T, NM_001256748.3:c.757G>A, NM_001256748.2:c.757G>T, NM_001256748.2:c.757G>A, NM_001256748.1:c.757G>T, NM_001256748.1:c.757G>A, XM_017006518.2:c.1285G>T, XM_017006518.2:c.1285G>A, XM_017006518.1:c.1285G>T, XM_017006518.1:c.1285G>A, XM_017006512.2:c.1306G>T, XM_017006512.2:c.1306G>A, XM_017006512.1:c.1306G>T, XM_017006512.1:c.1306G>A, XM_017006515.2:c.1306G>T, XM_017006515.2:c.1306G>A, XM_017006515.1:c.1306G>T, XM_017006515.1:c.1306G>A, XM_017006533.2:c.1081G>T, XM_017006533.2:c.1081G>A, XM_017006533.1:c.1081G>T, XM_017006533.1:c.1081G>A, XM_017006527.2:c.1102G>T, XM_017006527.2:c.1102G>A, XM_017006527.1:c.1102G>T, XM_017006527.1:c.1102G>A, XM_017006534.2:c.1027G>T, XM_017006534.2:c.1027G>A, XM_017006534.1:c.1027G>T, XM_017006534.1:c.1027G>A, XM_017006513.2:c.1306G>T, XM_017006513.2:c.1306G>A, XM_017006513.1:c.1306G>T, XM_017006513.1:c.1306G>A, XM_017006511.2:c.1306G>T, XM_017006511.2:c.1306G>A, XM_017006511.1:c.1306G>T, XM_017006511.1:c.1306G>A, XM_017006525.2:c.1180G>T, XM_017006525.2:c.1180G>A, XM_017006525.1:c.1180G>T, XM_017006525.1:c.1180G>A, XM_017006514.2:c.1306G>T, XM_017006514.2:c.1306G>A, XM_017006514.1:c.1306G>T, XM_017006514.1:c.1306G>A, XM_017006521.2:c.1210G>T, XM_017006521.2:c.1210G>A, XM_017006521.1:c.1210G>T, XM_017006521.1:c.1210G>A, XM_017006522.2:c.1210G>T, XM_017006522.2:c.1210G>A, XM_017006522.1:c.1210G>T, XM_017006522.1:c.1210G>A, XM_017006524.2:c.1183G>T, XM_017006524.2:c.1183G>A, XM_017006524.1:c.1183G>T, XM_017006524.1:c.1183G>A, XM_017006516.2:c.1306G>T, XM_017006516.2:c.1306G>A, XM_017006516.1:c.1306G>T, XM_017006516.1:c.1306G>A, XM_017006517.2:c.1306G>T, XM_017006517.2:c.1306G>A, XM_017006517.1:c.1306G>T, XM_017006517.1:c.1306G>A, XM_017006523.2:c.1210G>T, XM_017006523.2:c.1210G>A, XM_017006523.1:c.1210G>T, XM_017006523.1:c.1210G>A, XM_017006528.2:c.1102G>T, XM_017006528.2:c.1102G>A, XM_017006528.1:c.1102G>T, XM_017006528.1:c.1102G>A, XM_017006529.2:c.1102G>T, XM_017006529.2:c.1102G>A, XM_017006529.1:c.1102G>T, XM_017006529.1:c.1102G>A, XM_017006510.2:c.1228G>T, XM_017006510.2:c.1228G>A, XM_017006510.1:c.1330G>T, XM_017006510.1:c.1330G>A, XM_017006520.2:c.1102G>T, XM_017006520.2:c.1102G>A, XM_017006520.1:c.1264G>T, XM_017006520.1:c.1264G>A, XM_017006519.2:c.1174G>T, XM_017006519.2:c.1174G>A, XM_017006519.1:c.1276G>T, XM_017006519.1:c.1276G>A, XM_017006526.2:c.1180G>T, XM_017006526.2:c.1180G>A, XM_017006526.1:c.1180G>T, XM_017006526.1:c.1180G>A, XM_017006541.2:c.691G>T, XM_017006541.2:c.691G>A, XM_017006541.1:c.691G>T, XM_017006541.1:c.691G>A, XM_017006542.2:c.691G>T, XM_017006542.2:c.691G>A, XM_017006542.1:c.691G>T, XM_017006542.1:c.691G>A, XM_047448237.1:c.1306G>T, XM_047448237.1:c.1306G>A, XM_047448230.1:c.1306G>T, XM_047448230.1:c.1306G>A, XM_047448234.1:c.1306G>T, XM_047448234.1:c.1306G>A, XM_047448231.1:c.1306G>T, XM_047448231.1:c.1306G>A, XM_047448236.1:c.1306G>T, XM_047448236.1:c.1306G>A, XM_047448235.1:c.1306G>T, XM_047448235.1:c.1306G>A, XM_047448233.1:c.1306G>T, XM_047448233.1:c.1306G>A, NP_057015.2:p.Val180Phe, NP_057015.2:p.Val180Ile, NP_001243678.1:p.Val180Phe, NP_001243678.1:p.Val180Ile, NP_001243677.1:p.Val253Phe, NP_001243677.1:p.Val253Ile, XP_016862007.1:p.Val429Phe, XP_016862007.1:p.Val429Ile, XP_016862001.1:p.Val436Phe, XP_016862001.1:p.Val436Ile, XP_016862004.1:p.Val436Phe, XP_016862004.1:p.Val436Ile, XP_016862022.1:p.Val361Phe, XP_016862022.1:p.Val361Ile, XP_016862016.1:p.Val368Phe, XP_016862016.1:p.Val368Ile, XP_016862023.1:p.Val343Phe, XP_016862023.1:p.Val343Ile, XP_016862002.1:p.Val436Phe, XP_016862002.1:p.Val436Ile, XP_016862000.1:p.Val436Phe, XP_016862000.1:p.Val436Ile, XP_016862014.1:p.Val394Phe, XP_016862014.1:p.Val394Ile, XP_016862003.1:p.Val436Phe, XP_016862003.1:p.Val436Ile, XP_016862010.1:p.Val404Phe, XP_016862010.1:p.Val404Ile, XP_016862011.1:p.Val404Phe, XP_016862011.1:p.Val404Ile, XP_016862013.1:p.Val395Phe, XP_016862013.1:p.Val395Ile, XP_016862005.1:p.Val436Phe, XP_016862005.1:p.Val436Ile, XP_016862006.1:p.Val436Phe, XP_016862006.1:p.Val436Ile, XP_016862012.1:p.Val404Phe, XP_016862012.1:p.Val404Ile, XP_016862017.1:p.Val368Phe, XP_016862017.1:p.Val368Ile, XP_016862018.1:p.Val368Phe, XP_016862018.1:p.Val368Ile, XP_016861999.2:p.Val410Phe, XP_016861999.2:p.Val410Ile, XP_016862009.2:p.Val368Phe, XP_016862009.2:p.Val368Ile, XP_016862008.2:p.Val392Phe, XP_016862008.2:p.Val392Ile, XP_016862015.1:p.Val394Phe, XP_016862015.1:p.Val394Ile, XP_016862030.1:p.Val231Phe, XP_016862030.1:p.Val231Ile, XP_016862031.1:p.Val231Phe, XP_016862031.1:p.Val231Ile, XP_047304193.1:p.Val436Phe, XP_047304193.1:p.Val436Ile, XP_047304186.1:p.Val436Phe, XP_047304186.1:p.Val436Ile, XP_047304190.1:p.Val436Phe, XP_047304190.1:p.Val436Ile, XP_047304187.1:p.Val436Phe, XP_047304187.1:p.Val436Ile, XP_047304192.1:p.Val436Phe, XP_047304192.1:p.Val436Ile, XP_047304191.1:p.Val436Phe, XP_047304191.1:p.Val436Ile, XP_047304189.1:p.Val436Phe, XP_047304189.1:p.Val436Ile

              7.

              rs1479750506 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:8635362 (GRCh38)
                3:8677048 (GRCh37)
                Canonical SPDI:
                NC_000003.12:8635361:T:C
                Gene:
                SSUH2 (Varview)
                Functional Consequence:
                upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                HGVS:
                NC_000003.12:g.8635362T>C, NC_000003.11:g.8677048T>C, NM_015931.4:c.-219A>G, NM_015931.3:c.-66A>G, NM_015931.2:c.-66A>G, NR_046358.3:n.187A>G, NR_046358.2:n.187A>G, NR_046358.1:n.187A>G, NM_001256749.3:c.-73A>G, NM_001256749.2:c.-73A>G, NM_001256749.1:c.-73A>G, NM_001256748.3:c.147A>G, NM_001256748.2:c.147A>G, NM_001256748.1:c.147A>G, XM_017006518.2:c.271A>G, XM_017006518.1:c.271A>G, XM_017006512.2:c.248A>G, XM_017006512.1:c.248A>G, XM_017006515.2:c.248A>G, XM_017006515.1:c.248A>G, XM_017006533.2:c.271A>G, XM_017006533.1:c.271A>G, XM_017006527.2:c.44A>G, XM_017006527.1:c.44A>G, XM_017006534.2:c.271A>G, XM_017006534.1:c.271A>G, XM_017006513.2:c.248A>G, XM_017006513.1:c.248A>G, XM_017006511.2:c.248A>G, XM_017006511.1:c.248A>G, XM_017006525.2:c.122A>G, XM_017006525.1:c.122A>G, XM_017006514.2:c.248A>G, XM_017006514.1:c.248A>G, XM_017006521.2:c.152A>G, XM_017006521.1:c.152A>G, XM_017006522.2:c.152A>G, XM_017006522.1:c.152A>G, XM_017006524.2:c.125A>G, XM_017006524.1:c.125A>G, XM_017006516.2:c.248A>G, XM_017006516.1:c.248A>G, XM_017006517.2:c.248A>G, XM_017006517.1:c.248A>G, XM_017006523.2:c.152A>G, XM_017006523.1:c.152A>G, XM_017006528.2:c.44A>G, XM_017006528.1:c.44A>G, XM_017006529.2:c.44A>G, XM_017006529.1:c.44A>G, XM_017006510.2:c.170A>G, XM_017006510.1:c.272A>G, XM_017006520.2:c.44A>G, XM_017006520.1:c.206A>G, XM_017006519.2:c.170A>G, XM_017006519.1:c.272A>G, XM_017006526.2:c.122A>G, XM_017006526.1:c.122A>G, XM_047448237.1:c.248A>G, XM_047448230.1:c.248A>G, XM_047448234.1:c.248A>G, XM_047448231.1:c.248A>G, XM_047448236.1:c.248A>G, XM_047448235.1:c.248A>G, XM_047448233.1:c.248A>G, XP_016862007.1:p.Thr91Ala, XP_016862001.1:p.His83Arg, XP_016862004.1:p.His83Arg, XP_016862022.1:p.Thr91Ala, XP_016862016.1:p.His15Arg, XP_016862023.1:p.Thr91Ala, XP_016862002.1:p.His83Arg, XP_016862000.1:p.His83Arg, XP_016862014.1:p.His41Arg, XP_016862003.1:p.His83Arg, XP_016862010.1:p.His51Arg, XP_016862011.1:p.His51Arg, XP_016862013.1:p.His42Arg, XP_016862005.1:p.His83Arg, XP_016862006.1:p.His83Arg, XP_016862012.1:p.His51Arg, XP_016862017.1:p.His15Arg, XP_016862018.1:p.His15Arg, XP_016861999.2:p.His57Arg, XP_016862009.2:p.His15Arg, XP_016862008.2:p.His57Arg, XP_016862015.1:p.His41Arg, XP_047304193.1:p.His83Arg, XP_047304186.1:p.His83Arg, XP_047304190.1:p.His83Arg, XP_047304187.1:p.His83Arg, XP_047304192.1:p.His83Arg, XP_047304191.1:p.His83Arg, XP_047304189.1:p.His83Arg

                8.

                rs1475845947 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:8635320 (GRCh38)
                  3:8677006 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:8635319:C:T
                  Gene:
                  SSUH2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,stop_gained
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.8635320C>T, NC_000003.11:g.8677006C>T, NM_015931.4:c.-177G>A, NM_015931.3:c.-24G>A, NM_015931.2:c.-24G>A, NR_046358.3:n.229G>A, NR_046358.2:n.229G>A, NR_046358.1:n.229G>A, NM_001256749.3:c.-31G>A, NM_001256749.2:c.-31G>A, NM_001256749.1:c.-31G>A, NM_001256748.3:c.189G>A, NM_001256748.2:c.189G>A, NM_001256748.1:c.189G>A, XM_017006518.2:c.313G>A, XM_017006518.1:c.313G>A, XM_017006512.2:c.290G>A, XM_017006512.1:c.290G>A, XM_017006515.2:c.290G>A, XM_017006515.1:c.290G>A, XM_017006533.2:c.313G>A, XM_017006533.1:c.313G>A, XM_017006527.2:c.86G>A, XM_017006527.1:c.86G>A, XM_017006534.2:c.313G>A, XM_017006534.1:c.313G>A, XM_017006513.2:c.290G>A, XM_017006513.1:c.290G>A, XM_017006511.2:c.290G>A, XM_017006511.1:c.290G>A, XM_017006525.2:c.164G>A, XM_017006525.1:c.164G>A, XM_017006514.2:c.290G>A, XM_017006514.1:c.290G>A, XM_017006521.2:c.194G>A, XM_017006521.1:c.194G>A, XM_017006522.2:c.194G>A, XM_017006522.1:c.194G>A, XM_017006524.2:c.167G>A, XM_017006524.1:c.167G>A, XM_017006516.2:c.290G>A, XM_017006516.1:c.290G>A, XM_017006517.2:c.290G>A, XM_017006517.1:c.290G>A, XM_017006523.2:c.194G>A, XM_017006523.1:c.194G>A, XM_017006528.2:c.86G>A, XM_017006528.1:c.86G>A, XM_017006529.2:c.86G>A, XM_017006529.1:c.86G>A, XM_017006510.2:c.212G>A, XM_017006510.1:c.314G>A, XM_017006520.2:c.86G>A, XM_017006520.1:c.248G>A, XM_017006519.2:c.212G>A, XM_017006519.1:c.314G>A, XM_017006526.2:c.164G>A, XM_017006526.1:c.164G>A, XM_047448237.1:c.290G>A, XM_047448230.1:c.290G>A, XM_047448234.1:c.290G>A, XM_047448231.1:c.290G>A, XM_047448236.1:c.290G>A, XM_047448235.1:c.290G>A, XM_047448233.1:c.290G>A, NP_001243677.1:p.Trp63Ter, XP_016862007.1:p.Ala105Thr, XP_016862001.1:p.Gly97Asp, XP_016862004.1:p.Gly97Asp, XP_016862022.1:p.Ala105Thr, XP_016862016.1:p.Gly29Asp, XP_016862023.1:p.Ala105Thr, XP_016862002.1:p.Gly97Asp, XP_016862000.1:p.Gly97Asp, XP_016862014.1:p.Gly55Asp, XP_016862003.1:p.Gly97Asp, XP_016862010.1:p.Gly65Asp, XP_016862011.1:p.Gly65Asp, XP_016862013.1:p.Gly56Asp, XP_016862005.1:p.Gly97Asp, XP_016862006.1:p.Gly97Asp, XP_016862012.1:p.Gly65Asp, XP_016862017.1:p.Gly29Asp, XP_016862018.1:p.Gly29Asp, XP_016861999.2:p.Gly71Asp, XP_016862009.2:p.Gly29Asp, XP_016862008.2:p.Gly71Asp, XP_016862015.1:p.Gly55Asp, XP_047304193.1:p.Gly97Asp, XP_047304186.1:p.Gly97Asp, XP_047304190.1:p.Gly97Asp, XP_047304187.1:p.Gly97Asp, XP_047304192.1:p.Gly97Asp, XP_047304191.1:p.Gly97Asp, XP_047304189.1:p.Gly97Asp

                  9.

                  rs1475236376 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:8635351 (GRCh38)
                    3:8677037 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:8635350:G:A
                    Gene:
                    SSUH2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.8635351G>A, NC_000003.11:g.8677037G>A, NM_015931.4:c.-208C>T, NM_015931.3:c.-55C>T, NM_015931.2:c.-55C>T, NR_046358.3:n.198C>T, NR_046358.2:n.198C>T, NR_046358.1:n.198C>T, NM_001256749.3:c.-62C>T, NM_001256749.2:c.-62C>T, NM_001256749.1:c.-62C>T, NM_001256748.3:c.158C>T, NM_001256748.2:c.158C>T, NM_001256748.1:c.158C>T, XM_017006518.2:c.282C>T, XM_017006518.1:c.282C>T, XM_017006512.2:c.259C>T, XM_017006512.1:c.259C>T, XM_017006515.2:c.259C>T, XM_017006515.1:c.259C>T, XM_017006533.2:c.282C>T, XM_017006533.1:c.282C>T, XM_017006527.2:c.55C>T, XM_017006527.1:c.55C>T, XM_017006534.2:c.282C>T, XM_017006534.1:c.282C>T, XM_017006513.2:c.259C>T, XM_017006513.1:c.259C>T, XM_017006511.2:c.259C>T, XM_017006511.1:c.259C>T, XM_017006525.2:c.133C>T, XM_017006525.1:c.133C>T, XM_017006514.2:c.259C>T, XM_017006514.1:c.259C>T, XM_017006521.2:c.163C>T, XM_017006521.1:c.163C>T, XM_017006522.2:c.163C>T, XM_017006522.1:c.163C>T, XM_017006524.2:c.136C>T, XM_017006524.1:c.136C>T, XM_017006516.2:c.259C>T, XM_017006516.1:c.259C>T, XM_017006517.2:c.259C>T, XM_017006517.1:c.259C>T, XM_017006523.2:c.163C>T, XM_017006523.1:c.163C>T, XM_017006528.2:c.55C>T, XM_017006528.1:c.55C>T, XM_017006529.2:c.55C>T, XM_017006529.1:c.55C>T, XM_017006510.2:c.181C>T, XM_017006510.1:c.283C>T, XM_017006520.2:c.55C>T, XM_017006520.1:c.217C>T, XM_017006519.2:c.181C>T, XM_017006519.1:c.283C>T, XM_017006526.2:c.133C>T, XM_017006526.1:c.133C>T, XM_047448237.1:c.259C>T, XM_047448230.1:c.259C>T, XM_047448234.1:c.259C>T, XM_047448231.1:c.259C>T, XM_047448236.1:c.259C>T, XM_047448235.1:c.259C>T, XM_047448233.1:c.259C>T, NP_001243677.1:p.Ala53Val, XP_016862001.1:p.Pro87Ser, XP_016862004.1:p.Pro87Ser, XP_016862016.1:p.Pro19Ser, XP_016862002.1:p.Pro87Ser, XP_016862000.1:p.Pro87Ser, XP_016862014.1:p.Pro45Ser, XP_016862003.1:p.Pro87Ser, XP_016862010.1:p.Pro55Ser, XP_016862011.1:p.Pro55Ser, XP_016862013.1:p.Pro46Ser, XP_016862005.1:p.Pro87Ser, XP_016862006.1:p.Pro87Ser, XP_016862012.1:p.Pro55Ser, XP_016862017.1:p.Pro19Ser, XP_016862018.1:p.Pro19Ser, XP_016861999.2:p.Pro61Ser, XP_016862009.2:p.Pro19Ser, XP_016862008.2:p.Pro61Ser, XP_016862015.1:p.Pro45Ser, XP_047304193.1:p.Pro87Ser, XP_047304186.1:p.Pro87Ser, XP_047304190.1:p.Pro87Ser, XP_047304187.1:p.Pro87Ser, XP_047304192.1:p.Pro87Ser, XP_047304191.1:p.Pro87Ser, XP_047304189.1:p.Pro87Ser

                    10.

                    rs1474769581 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:8626247 (GRCh38)
                      3:8667933 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:8626246:A:C
                      Gene:
                      SSUH2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.8626247A>C, NC_000003.11:g.8667933A>C, NM_015931.4:c.530T>G, NM_015931.3:c.683T>G, NM_015931.2:c.683T>G, NR_046358.3:n.1037T>G, NR_046358.2:n.1037T>G, NR_046358.1:n.1037T>G, NM_001256749.3:c.530T>G, NM_001256749.2:c.530T>G, NM_001256749.1:c.530T>G, NM_001256748.3:c.749T>G, NM_001256748.2:c.749T>G, NM_001256748.1:c.749T>G, XM_017006518.2:c.1277T>G, XM_017006518.1:c.1277T>G, XM_017006512.2:c.1298T>G, XM_017006512.1:c.1298T>G, XM_017006515.2:c.1298T>G, XM_017006515.1:c.1298T>G, XM_017006533.2:c.1073T>G, XM_017006533.1:c.1073T>G, XM_017006527.2:c.1094T>G, XM_017006527.1:c.1094T>G, XM_017006534.2:c.1019T>G, XM_017006534.1:c.1019T>G, XM_017006513.2:c.1298T>G, XM_017006513.1:c.1298T>G, XM_017006511.2:c.1298T>G, XM_017006511.1:c.1298T>G, XM_017006525.2:c.1172T>G, XM_017006525.1:c.1172T>G, XM_017006514.2:c.1298T>G, XM_017006514.1:c.1298T>G, XM_017006521.2:c.1202T>G, XM_017006521.1:c.1202T>G, XM_017006522.2:c.1202T>G, XM_017006522.1:c.1202T>G, XM_017006524.2:c.1175T>G, XM_017006524.1:c.1175T>G, XM_017006516.2:c.1298T>G, XM_017006516.1:c.1298T>G, XM_017006517.2:c.1298T>G, XM_017006517.1:c.1298T>G, XM_017006523.2:c.1202T>G, XM_017006523.1:c.1202T>G, XM_017006528.2:c.1094T>G, XM_017006528.1:c.1094T>G, XM_017006529.2:c.1094T>G, XM_017006529.1:c.1094T>G, XM_017006510.2:c.1220T>G, XM_017006510.1:c.1322T>G, XM_017006520.2:c.1094T>G, XM_017006520.1:c.1256T>G, XM_017006519.2:c.1166T>G, XM_017006519.1:c.1268T>G, XM_017006526.2:c.1172T>G, XM_017006526.1:c.1172T>G, XM_017006541.2:c.683T>G, XM_017006541.1:c.683T>G, XM_017006542.2:c.683T>G, XM_017006542.1:c.683T>G, XM_047448237.1:c.1298T>G, XM_047448230.1:c.1298T>G, XM_047448234.1:c.1298T>G, XM_047448231.1:c.1298T>G, XM_047448236.1:c.1298T>G, XM_047448235.1:c.1298T>G, XM_047448233.1:c.1298T>G, NP_057015.2:p.Ile177Ser, NP_001243678.1:p.Ile177Ser, NP_001243677.1:p.Ile250Ser, XP_016862007.1:p.Ile426Ser, XP_016862001.1:p.Ile433Ser, XP_016862004.1:p.Ile433Ser, XP_016862022.1:p.Ile358Ser, XP_016862016.1:p.Ile365Ser, XP_016862023.1:p.Ile340Ser, XP_016862002.1:p.Ile433Ser, XP_016862000.1:p.Ile433Ser, XP_016862014.1:p.Ile391Ser, XP_016862003.1:p.Ile433Ser, XP_016862010.1:p.Ile401Ser, XP_016862011.1:p.Ile401Ser, XP_016862013.1:p.Ile392Ser, XP_016862005.1:p.Ile433Ser, XP_016862006.1:p.Ile433Ser, XP_016862012.1:p.Ile401Ser, XP_016862017.1:p.Ile365Ser, XP_016862018.1:p.Ile365Ser, XP_016861999.2:p.Ile407Ser, XP_016862009.2:p.Ile365Ser, XP_016862008.2:p.Ile389Ser, XP_016862015.1:p.Ile391Ser, XP_016862030.1:p.Ile228Ser, XP_016862031.1:p.Ile228Ser, XP_047304193.1:p.Ile433Ser, XP_047304186.1:p.Ile433Ser, XP_047304190.1:p.Ile433Ser, XP_047304187.1:p.Ile433Ser, XP_047304192.1:p.Ile433Ser, XP_047304191.1:p.Ile433Ser, XP_047304189.1:p.Ile433Ser

                      11.

                      rs1471981438 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:8630891 (GRCh38)
                        3:8672577 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:8630890:T:C
                        Gene:
                        SSUH2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.8630891T>C, NC_000003.11:g.8672577T>C, NM_015931.4:c.220A>G, NM_015931.3:c.373A>G, NM_015931.2:c.373A>G, NR_046358.3:n.727A>G, NR_046358.2:n.727A>G, NR_046358.1:n.727A>G, NM_001256749.3:c.220A>G, NM_001256749.2:c.220A>G, NM_001256749.1:c.220A>G, NM_001256748.3:c.439A>G, NM_001256748.2:c.439A>G, NM_001256748.1:c.439A>G, XM_017006518.2:c.967A>G, XM_017006518.1:c.967A>G, XM_017006512.2:c.988A>G, XM_017006512.1:c.988A>G, XM_017006515.2:c.988A>G, XM_017006515.1:c.988A>G, XM_017006533.2:c.763A>G, XM_017006533.1:c.763A>G, XM_017006527.2:c.784A>G, XM_017006527.1:c.784A>G, XM_017006534.2:c.709A>G, XM_017006534.1:c.709A>G, XM_017006513.2:c.988A>G, XM_017006513.1:c.988A>G, XM_017006511.2:c.988A>G, XM_017006511.1:c.988A>G, XM_017006525.2:c.862A>G, XM_017006525.1:c.862A>G, XM_017006514.2:c.988A>G, XM_017006514.1:c.988A>G, XM_017006521.2:c.892A>G, XM_017006521.1:c.892A>G, XM_017006522.2:c.892A>G, XM_017006522.1:c.892A>G, XM_017006524.2:c.865A>G, XM_017006524.1:c.865A>G, XM_017006516.2:c.988A>G, XM_017006516.1:c.988A>G, XM_017006517.2:c.988A>G, XM_017006517.1:c.988A>G, XM_017006523.2:c.892A>G, XM_017006523.1:c.892A>G, XM_017006528.2:c.784A>G, XM_017006528.1:c.784A>G, XM_017006529.2:c.784A>G, XM_017006529.1:c.784A>G, XM_017006510.2:c.910A>G, XM_017006510.1:c.1012A>G, XM_017006520.2:c.784A>G, XM_017006520.1:c.946A>G, XM_017006519.2:c.856A>G, XM_017006519.1:c.958A>G, XM_017006526.2:c.862A>G, XM_017006526.1:c.862A>G, XM_017006541.2:c.373A>G, XM_017006541.1:c.373A>G, XM_017006542.2:c.373A>G, XM_017006542.1:c.373A>G, XM_047448237.1:c.988A>G, XM_047448230.1:c.988A>G, XM_047448234.1:c.988A>G, XM_047448231.1:c.988A>G, XM_047448236.1:c.988A>G, XM_047448235.1:c.988A>G, XM_047448233.1:c.988A>G, NP_057015.2:p.Arg74Gly, NP_001243678.1:p.Arg74Gly, NP_001243677.1:p.Arg147Gly, XP_016862007.1:p.Arg323Gly, XP_016862001.1:p.Arg330Gly, XP_016862004.1:p.Arg330Gly, XP_016862022.1:p.Arg255Gly, XP_016862016.1:p.Arg262Gly, XP_016862023.1:p.Arg237Gly, XP_016862002.1:p.Arg330Gly, XP_016862000.1:p.Arg330Gly, XP_016862014.1:p.Arg288Gly, XP_016862003.1:p.Arg330Gly, XP_016862010.1:p.Arg298Gly, XP_016862011.1:p.Arg298Gly, XP_016862013.1:p.Arg289Gly, XP_016862005.1:p.Arg330Gly, XP_016862006.1:p.Arg330Gly, XP_016862012.1:p.Arg298Gly, XP_016862017.1:p.Arg262Gly, XP_016862018.1:p.Arg262Gly, XP_016861999.2:p.Arg304Gly, XP_016862009.2:p.Arg262Gly, XP_016862008.2:p.Arg286Gly, XP_016862015.1:p.Arg288Gly, XP_016862030.1:p.Arg125Gly, XP_016862031.1:p.Arg125Gly, XP_047304193.1:p.Arg330Gly, XP_047304186.1:p.Arg330Gly, XP_047304190.1:p.Arg330Gly, XP_047304187.1:p.Arg330Gly, XP_047304192.1:p.Arg330Gly, XP_047304191.1:p.Arg330Gly, XP_047304189.1:p.Arg330Gly

                        12.

                        rs1471494711 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:8620012 (GRCh38)
                          3:8661698 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:8620011:G:A
                          Gene:
                          SSUH2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.8620012G>A, NC_000003.11:g.8661698G>A, NM_015931.4:c.765C>T, NM_015931.3:c.918C>T, NM_015931.2:c.918C>T, NR_046358.3:n.1272C>T, NR_046358.2:n.1272C>T, NR_046358.1:n.1272C>T, NM_001256749.3:c.765C>T, NM_001256749.2:c.765C>T, NM_001256749.1:c.765C>T, NM_001256748.3:c.984C>T, NM_001256748.2:c.984C>T, NM_001256748.1:c.984C>T, XM_017006518.2:c.1512C>T, XM_017006518.1:c.1512C>T, XM_017006512.2:c.1533C>T, XM_017006512.1:c.1533C>T, XM_017006515.2:c.1533C>T, XM_017006515.1:c.1533C>T, XM_017006533.2:c.1308C>T, XM_017006533.1:c.1308C>T, XM_017006527.2:c.1329C>T, XM_017006527.1:c.1329C>T, XM_017006534.2:c.1254C>T, XM_017006534.1:c.1254C>T, XM_017006513.2:c.1533C>T, XM_017006513.1:c.1533C>T, XM_017006511.2:c.1533C>T, XM_017006511.1:c.1533C>T, XM_017006525.2:c.1407C>T, XM_017006525.1:c.1407C>T, XM_017006514.2:c.1533C>T, XM_017006514.1:c.1533C>T, XM_017006521.2:c.1437C>T, XM_017006521.1:c.1437C>T, XM_017006522.2:c.1437C>T, XM_017006522.1:c.1437C>T, XM_017006524.2:c.1410C>T, XM_017006524.1:c.1410C>T, XM_017006516.2:c.1533C>T, XM_017006516.1:c.1533C>T, XM_017006517.2:c.1533C>T, XM_017006517.1:c.1533C>T, XM_017006523.2:c.1437C>T, XM_017006523.1:c.1437C>T, XM_017006528.2:c.1329C>T, XM_017006528.1:c.1329C>T, XM_017006529.2:c.1329C>T, XM_017006529.1:c.1329C>T, XM_017006510.2:c.1455C>T, XM_017006510.1:c.1557C>T, XM_017006520.2:c.1329C>T, XM_017006520.1:c.1491C>T, XM_017006519.2:c.1401C>T, XM_017006519.1:c.1503C>T, XM_017006526.2:c.1407C>T, XM_017006526.1:c.1407C>T, XM_017006541.2:c.918C>T, XM_017006541.1:c.918C>T, XM_017006542.2:c.918C>T, XM_017006542.1:c.918C>T, XM_047448237.1:c.1533C>T, XM_047448230.1:c.1533C>T, XM_047448234.1:c.1533C>T, XM_047448231.1:c.1533C>T, XM_047448236.1:c.1533C>T, XM_047448235.1:c.1533C>T, XM_047448233.1:c.1533C>T

                          13.

                          rs1469814084 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            3:8634500 (GRCh38)
                            3:8676186 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:8634499:A:T
                            Gene:
                            SSUH2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,stop_gained
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000111/1 (ALFA)
                            T=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.8634500A>T, NC_000003.11:g.8676186A>T, NR_046358.3:n.395T>A, NR_046358.2:n.395T>A, NR_046358.1:n.395T>A, XM_017006518.2:c.435T>A, XM_017006518.1:c.435T>A, XM_017006512.2:c.456T>A, XM_017006512.1:c.456T>A, XM_017006515.2:c.456T>A, XM_017006515.1:c.456T>A, XM_017006527.2:c.252T>A, XM_017006527.1:c.252T>A, XM_017006513.2:c.456T>A, XM_017006513.1:c.456T>A, XM_017006511.2:c.456T>A, XM_017006511.1:c.456T>A, XM_017006525.2:c.330T>A, XM_017006525.1:c.330T>A, XM_017006514.2:c.456T>A, XM_017006514.1:c.456T>A, XM_017006521.2:c.360T>A, XM_017006521.1:c.360T>A, XM_017006522.2:c.360T>A, XM_017006522.1:c.360T>A, XM_017006524.2:c.333T>A, XM_017006524.1:c.333T>A, XM_017006516.2:c.456T>A, XM_017006516.1:c.456T>A, XM_017006517.2:c.456T>A, XM_017006517.1:c.456T>A, XM_017006523.2:c.360T>A, XM_017006523.1:c.360T>A, XM_017006528.2:c.252T>A, XM_017006528.1:c.252T>A, XM_017006529.2:c.252T>A, XM_017006529.1:c.252T>A, XM_017006510.2:c.378T>A, XM_017006510.1:c.480T>A, XM_017006520.2:c.252T>A, XM_017006520.1:c.414T>A, XM_017006519.2:c.378T>A, XM_017006519.1:c.480T>A, XM_017006526.2:c.330T>A, XM_017006526.1:c.330T>A, XM_047448237.1:c.456T>A, XM_047448230.1:c.456T>A, XM_047448234.1:c.456T>A, XM_047448231.1:c.456T>A, XM_047448236.1:c.456T>A, XM_047448235.1:c.456T>A, XM_047448233.1:c.456T>A, XP_016862007.1:p.Cys145Ter, XP_016862001.1:p.Cys152Ter, XP_016862004.1:p.Cys152Ter, XP_016862016.1:p.Cys84Ter, XP_016862002.1:p.Cys152Ter, XP_016862000.1:p.Cys152Ter, XP_016862014.1:p.Cys110Ter, XP_016862003.1:p.Cys152Ter, XP_016862010.1:p.Cys120Ter, XP_016862011.1:p.Cys120Ter, XP_016862013.1:p.Cys111Ter, XP_016862005.1:p.Cys152Ter, XP_016862006.1:p.Cys152Ter, XP_016862012.1:p.Cys120Ter, XP_016862017.1:p.Cys84Ter, XP_016862018.1:p.Cys84Ter, XP_016861999.2:p.Cys126Ter, XP_016862009.2:p.Cys84Ter, XP_016862008.2:p.Cys126Ter, XP_016862015.1:p.Cys110Ter, XP_047304193.1:p.Cys152Ter, XP_047304186.1:p.Cys152Ter, XP_047304190.1:p.Cys152Ter, XP_047304187.1:p.Cys152Ter, XP_047304192.1:p.Cys152Ter, XP_047304191.1:p.Cys152Ter, XP_047304189.1:p.Cys152Ter

                            14.

                            rs1466293274 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:8634492 (GRCh38)
                              3:8676178 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:8634491:A:G
                              Gene:
                              SSUH2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.00007/1 (ALFA)
                              HGVS:
                              NC_000003.12:g.8634492A>G, NC_000003.11:g.8676178A>G, NR_046358.3:n.403T>C, NR_046358.2:n.403T>C, NR_046358.1:n.403T>C, XM_017006518.2:c.443T>C, XM_017006518.1:c.443T>C, XM_017006512.2:c.464T>C, XM_017006512.1:c.464T>C, XM_017006515.2:c.464T>C, XM_017006515.1:c.464T>C, XM_017006527.2:c.260T>C, XM_017006527.1:c.260T>C, XM_017006513.2:c.464T>C, XM_017006513.1:c.464T>C, XM_017006511.2:c.464T>C, XM_017006511.1:c.464T>C, XM_017006525.2:c.338T>C, XM_017006525.1:c.338T>C, XM_017006514.2:c.464T>C, XM_017006514.1:c.464T>C, XM_017006521.2:c.368T>C, XM_017006521.1:c.368T>C, XM_017006522.2:c.368T>C, XM_017006522.1:c.368T>C, XM_017006524.2:c.341T>C, XM_017006524.1:c.341T>C, XM_017006516.2:c.464T>C, XM_017006516.1:c.464T>C, XM_017006517.2:c.464T>C, XM_017006517.1:c.464T>C, XM_017006523.2:c.368T>C, XM_017006523.1:c.368T>C, XM_017006528.2:c.260T>C, XM_017006528.1:c.260T>C, XM_017006529.2:c.260T>C, XM_017006529.1:c.260T>C, XM_017006510.2:c.386T>C, XM_017006510.1:c.488T>C, XM_017006520.2:c.260T>C, XM_017006520.1:c.422T>C, XM_017006519.2:c.386T>C, XM_017006519.1:c.488T>C, XM_017006526.2:c.338T>C, XM_017006526.1:c.338T>C, XM_047448237.1:c.464T>C, XM_047448230.1:c.464T>C, XM_047448234.1:c.464T>C, XM_047448231.1:c.464T>C, XM_047448236.1:c.464T>C, XM_047448235.1:c.464T>C, XM_047448233.1:c.464T>C, XP_016862007.1:p.Met148Thr, XP_016862001.1:p.Met155Thr, XP_016862004.1:p.Met155Thr, XP_016862016.1:p.Met87Thr, XP_016862002.1:p.Met155Thr, XP_016862000.1:p.Met155Thr, XP_016862014.1:p.Met113Thr, XP_016862003.1:p.Met155Thr, XP_016862010.1:p.Met123Thr, XP_016862011.1:p.Met123Thr, XP_016862013.1:p.Met114Thr, XP_016862005.1:p.Met155Thr, XP_016862006.1:p.Met155Thr, XP_016862012.1:p.Met123Thr, XP_016862017.1:p.Met87Thr, XP_016862018.1:p.Met87Thr, XP_016861999.2:p.Met129Thr, XP_016862009.2:p.Met87Thr, XP_016862008.2:p.Met129Thr, XP_016862015.1:p.Met113Thr, XP_047304193.1:p.Met155Thr, XP_047304186.1:p.Met155Thr, XP_047304190.1:p.Met155Thr, XP_047304187.1:p.Met155Thr, XP_047304192.1:p.Met155Thr, XP_047304191.1:p.Met155Thr, XP_047304189.1:p.Met155Thr

                              15.

                              rs1464241949 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                3:8623625 (GRCh38)
                                3:8665311 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:8623624:T:A,NC_000003.12:8623624:T:C
                                Gene:
                                SSUH2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.8623625T>A, NC_000003.12:g.8623625T>C, NC_000003.11:g.8665311T>A, NC_000003.11:g.8665311T>C, NM_015931.4:c.686A>T, NM_015931.4:c.686A>G, NM_015931.3:c.839A>T, NM_015931.3:c.839A>G, NM_015931.2:c.839A>T, NM_015931.2:c.839A>G, NR_046358.3:n.1193A>T, NR_046358.3:n.1193A>G, NR_046358.2:n.1193A>T, NR_046358.2:n.1193A>G, NR_046358.1:n.1193A>T, NR_046358.1:n.1193A>G, NM_001256749.3:c.686A>T, NM_001256749.3:c.686A>G, NM_001256749.2:c.686A>T, NM_001256749.2:c.686A>G, NM_001256749.1:c.686A>T, NM_001256749.1:c.686A>G, NM_001256748.3:c.905A>T, NM_001256748.3:c.905A>G, NM_001256748.2:c.905A>T, NM_001256748.2:c.905A>G, NM_001256748.1:c.905A>T, NM_001256748.1:c.905A>G, XM_017006518.2:c.1433A>T, XM_017006518.2:c.1433A>G, XM_017006518.1:c.1433A>T, XM_017006518.1:c.1433A>G, XM_017006512.2:c.1454A>T, XM_017006512.2:c.1454A>G, XM_017006512.1:c.1454A>T, XM_017006512.1:c.1454A>G, XM_017006515.2:c.1454A>T, XM_017006515.2:c.1454A>G, XM_017006515.1:c.1454A>T, XM_017006515.1:c.1454A>G, XM_017006533.2:c.1229A>T, XM_017006533.2:c.1229A>G, XM_017006533.1:c.1229A>T, XM_017006533.1:c.1229A>G, XM_017006527.2:c.1250A>T, XM_017006527.2:c.1250A>G, XM_017006527.1:c.1250A>T, XM_017006527.1:c.1250A>G, XM_017006534.2:c.1175A>T, XM_017006534.2:c.1175A>G, XM_017006534.1:c.1175A>T, XM_017006534.1:c.1175A>G, XM_017006513.2:c.1454A>T, XM_017006513.2:c.1454A>G, XM_017006513.1:c.1454A>T, XM_017006513.1:c.1454A>G, XM_017006511.2:c.1454A>T, XM_017006511.2:c.1454A>G, XM_017006511.1:c.1454A>T, XM_017006511.1:c.1454A>G, XM_017006525.2:c.1328A>T, XM_017006525.2:c.1328A>G, XM_017006525.1:c.1328A>T, XM_017006525.1:c.1328A>G, XM_017006514.2:c.1454A>T, XM_017006514.2:c.1454A>G, XM_017006514.1:c.1454A>T, XM_017006514.1:c.1454A>G, XM_017006521.2:c.1358A>T, XM_017006521.2:c.1358A>G, XM_017006521.1:c.1358A>T, XM_017006521.1:c.1358A>G, XM_017006522.2:c.1358A>T, XM_017006522.2:c.1358A>G, XM_017006522.1:c.1358A>T, XM_017006522.1:c.1358A>G, XM_017006524.2:c.1331A>T, XM_017006524.2:c.1331A>G, XM_017006524.1:c.1331A>T, XM_017006524.1:c.1331A>G, XM_017006516.2:c.1454A>T, XM_017006516.2:c.1454A>G, XM_017006516.1:c.1454A>T, XM_017006516.1:c.1454A>G, XM_017006517.2:c.1454A>T, XM_017006517.2:c.1454A>G, XM_017006517.1:c.1454A>T, XM_017006517.1:c.1454A>G, XM_017006523.2:c.1358A>T, XM_017006523.2:c.1358A>G, XM_017006523.1:c.1358A>T, XM_017006523.1:c.1358A>G, XM_017006528.2:c.1250A>T, XM_017006528.2:c.1250A>G, XM_017006528.1:c.1250A>T, XM_017006528.1:c.1250A>G, XM_017006529.2:c.1250A>T, XM_017006529.2:c.1250A>G, XM_017006529.1:c.1250A>T, XM_017006529.1:c.1250A>G, XM_017006510.2:c.1376A>T, XM_017006510.2:c.1376A>G, XM_017006510.1:c.1478A>T, XM_017006510.1:c.1478A>G, XM_017006520.2:c.1250A>T, XM_017006520.2:c.1250A>G, XM_017006520.1:c.1412A>T, XM_017006520.1:c.1412A>G, XM_017006519.2:c.1322A>T, XM_017006519.2:c.1322A>G, XM_017006519.1:c.1424A>T, XM_017006519.1:c.1424A>G, XM_017006526.2:c.1328A>T, XM_017006526.2:c.1328A>G, XM_017006526.1:c.1328A>T, XM_017006526.1:c.1328A>G, XM_017006541.2:c.839A>T, XM_017006541.2:c.839A>G, XM_017006541.1:c.839A>T, XM_017006541.1:c.839A>G, XM_017006542.2:c.839A>T, XM_017006542.2:c.839A>G, XM_017006542.1:c.839A>T, XM_017006542.1:c.839A>G, XM_047448237.1:c.1454A>T, XM_047448237.1:c.1454A>G, XM_047448230.1:c.1454A>T, XM_047448230.1:c.1454A>G, XM_047448234.1:c.1454A>T, XM_047448234.1:c.1454A>G, XM_047448231.1:c.1454A>T, XM_047448231.1:c.1454A>G, XM_047448236.1:c.1454A>T, XM_047448236.1:c.1454A>G, XM_047448235.1:c.1454A>T, XM_047448235.1:c.1454A>G, XM_047448233.1:c.1454A>T, XM_047448233.1:c.1454A>G, NP_057015.2:p.Asp229Val, NP_057015.2:p.Asp229Gly, NP_001243678.1:p.Asp229Val, NP_001243678.1:p.Asp229Gly, NP_001243677.1:p.Asp302Val, NP_001243677.1:p.Asp302Gly, XP_016862007.1:p.Asp478Val, XP_016862007.1:p.Asp478Gly, XP_016862001.1:p.Asp485Val, XP_016862001.1:p.Asp485Gly, XP_016862004.1:p.Asp485Val, XP_016862004.1:p.Asp485Gly, XP_016862022.1:p.Asp410Val, XP_016862022.1:p.Asp410Gly, XP_016862016.1:p.Asp417Val, XP_016862016.1:p.Asp417Gly, XP_016862023.1:p.Asp392Val, XP_016862023.1:p.Asp392Gly, XP_016862002.1:p.Asp485Val, XP_016862002.1:p.Asp485Gly, XP_016862000.1:p.Asp485Val, XP_016862000.1:p.Asp485Gly, XP_016862014.1:p.Asp443Val, XP_016862014.1:p.Asp443Gly, XP_016862003.1:p.Asp485Val, XP_016862003.1:p.Asp485Gly, XP_016862010.1:p.Asp453Val, XP_016862010.1:p.Asp453Gly, XP_016862011.1:p.Asp453Val, XP_016862011.1:p.Asp453Gly, XP_016862013.1:p.Asp444Val, XP_016862013.1:p.Asp444Gly, XP_016862005.1:p.Asp485Val, XP_016862005.1:p.Asp485Gly, XP_016862006.1:p.Asp485Val, XP_016862006.1:p.Asp485Gly, XP_016862012.1:p.Asp453Val, XP_016862012.1:p.Asp453Gly, XP_016862017.1:p.Asp417Val, XP_016862017.1:p.Asp417Gly, XP_016862018.1:p.Asp417Val, XP_016862018.1:p.Asp417Gly, XP_016861999.2:p.Asp459Val, XP_016861999.2:p.Asp459Gly, XP_016862009.2:p.Asp417Val, XP_016862009.2:p.Asp417Gly, XP_016862008.2:p.Asp441Val, XP_016862008.2:p.Asp441Gly, XP_016862015.1:p.Asp443Val, XP_016862015.1:p.Asp443Gly, XP_016862030.1:p.Asp280Val, XP_016862030.1:p.Asp280Gly, XP_016862031.1:p.Asp280Val, XP_016862031.1:p.Asp280Gly, XP_047304193.1:p.Asp485Val, XP_047304193.1:p.Asp485Gly, XP_047304186.1:p.Asp485Val, XP_047304186.1:p.Asp485Gly, XP_047304190.1:p.Asp485Val, XP_047304190.1:p.Asp485Gly, XP_047304187.1:p.Asp485Val, XP_047304187.1:p.Asp485Gly, XP_047304192.1:p.Asp485Val, XP_047304192.1:p.Asp485Gly, XP_047304191.1:p.Asp485Val, XP_047304191.1:p.Asp485Gly, XP_047304189.1:p.Asp485Val, XP_047304189.1:p.Asp485Gly

                                16.

                                rs1462439855 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  3:8623629 (GRCh38)
                                  3:8665315 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:8623628:G:A,NC_000003.12:8623628:G:C
                                  Gene:
                                  SSUH2 (Varview)
                                  Functional Consequence:
                                  stop_gained,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.8623629G>A, NC_000003.12:g.8623629G>C, NC_000003.11:g.8665315G>A, NC_000003.11:g.8665315G>C, NM_015931.4:c.682C>T, NM_015931.4:c.682C>G, NM_015931.3:c.835C>T, NM_015931.3:c.835C>G, NM_015931.2:c.835C>T, NM_015931.2:c.835C>G, NR_046358.3:n.1189C>T, NR_046358.3:n.1189C>G, NR_046358.2:n.1189C>T, NR_046358.2:n.1189C>G, NR_046358.1:n.1189C>T, NR_046358.1:n.1189C>G, NM_001256749.3:c.682C>T, NM_001256749.3:c.682C>G, NM_001256749.2:c.682C>T, NM_001256749.2:c.682C>G, NM_001256749.1:c.682C>T, NM_001256749.1:c.682C>G, NM_001256748.3:c.901C>T, NM_001256748.3:c.901C>G, NM_001256748.2:c.901C>T, NM_001256748.2:c.901C>G, NM_001256748.1:c.901C>T, NM_001256748.1:c.901C>G, XM_017006518.2:c.1429C>T, XM_017006518.2:c.1429C>G, XM_017006518.1:c.1429C>T, XM_017006518.1:c.1429C>G, XM_017006512.2:c.1450C>T, XM_017006512.2:c.1450C>G, XM_017006512.1:c.1450C>T, XM_017006512.1:c.1450C>G, XM_017006515.2:c.1450C>T, XM_017006515.2:c.1450C>G, XM_017006515.1:c.1450C>T, XM_017006515.1:c.1450C>G, XM_017006533.2:c.1225C>T, XM_017006533.2:c.1225C>G, XM_017006533.1:c.1225C>T, XM_017006533.1:c.1225C>G, XM_017006527.2:c.1246C>T, XM_017006527.2:c.1246C>G, XM_017006527.1:c.1246C>T, XM_017006527.1:c.1246C>G, XM_017006534.2:c.1171C>T, XM_017006534.2:c.1171C>G, XM_017006534.1:c.1171C>T, XM_017006534.1:c.1171C>G, XM_017006513.2:c.1450C>T, XM_017006513.2:c.1450C>G, XM_017006513.1:c.1450C>T, XM_017006513.1:c.1450C>G, XM_017006511.2:c.1450C>T, XM_017006511.2:c.1450C>G, XM_017006511.1:c.1450C>T, XM_017006511.1:c.1450C>G, XM_017006525.2:c.1324C>T, XM_017006525.2:c.1324C>G, XM_017006525.1:c.1324C>T, XM_017006525.1:c.1324C>G, XM_017006514.2:c.1450C>T, XM_017006514.2:c.1450C>G, XM_017006514.1:c.1450C>T, XM_017006514.1:c.1450C>G, XM_017006521.2:c.1354C>T, XM_017006521.2:c.1354C>G, XM_017006521.1:c.1354C>T, XM_017006521.1:c.1354C>G, XM_017006522.2:c.1354C>T, XM_017006522.2:c.1354C>G, XM_017006522.1:c.1354C>T, XM_017006522.1:c.1354C>G, XM_017006524.2:c.1327C>T, XM_017006524.2:c.1327C>G, XM_017006524.1:c.1327C>T, XM_017006524.1:c.1327C>G, XM_017006516.2:c.1450C>T, XM_017006516.2:c.1450C>G, XM_017006516.1:c.1450C>T, XM_017006516.1:c.1450C>G, XM_017006517.2:c.1450C>T, XM_017006517.2:c.1450C>G, XM_017006517.1:c.1450C>T, XM_017006517.1:c.1450C>G, XM_017006523.2:c.1354C>T, XM_017006523.2:c.1354C>G, XM_017006523.1:c.1354C>T, XM_017006523.1:c.1354C>G, XM_017006528.2:c.1246C>T, XM_017006528.2:c.1246C>G, XM_017006528.1:c.1246C>T, XM_017006528.1:c.1246C>G, XM_017006529.2:c.1246C>T, XM_017006529.2:c.1246C>G, XM_017006529.1:c.1246C>T, XM_017006529.1:c.1246C>G, XM_017006510.2:c.1372C>T, XM_017006510.2:c.1372C>G, XM_017006510.1:c.1474C>T, XM_017006510.1:c.1474C>G, XM_017006520.2:c.1246C>T, XM_017006520.2:c.1246C>G, XM_017006520.1:c.1408C>T, XM_017006520.1:c.1408C>G, XM_017006519.2:c.1318C>T, XM_017006519.2:c.1318C>G, XM_017006519.1:c.1420C>T, XM_017006519.1:c.1420C>G, XM_017006526.2:c.1324C>T, XM_017006526.2:c.1324C>G, XM_017006526.1:c.1324C>T, XM_017006526.1:c.1324C>G, XM_017006541.2:c.835C>T, XM_017006541.2:c.835C>G, XM_017006541.1:c.835C>T, XM_017006541.1:c.835C>G, XM_017006542.2:c.835C>T, XM_017006542.2:c.835C>G, XM_017006542.1:c.835C>T, XM_017006542.1:c.835C>G, XM_047448237.1:c.1450C>T, XM_047448237.1:c.1450C>G, XM_047448230.1:c.1450C>T, XM_047448230.1:c.1450C>G, XM_047448234.1:c.1450C>T, XM_047448234.1:c.1450C>G, XM_047448231.1:c.1450C>T, XM_047448231.1:c.1450C>G, XM_047448236.1:c.1450C>T, XM_047448236.1:c.1450C>G, XM_047448235.1:c.1450C>T, XM_047448235.1:c.1450C>G, XM_047448233.1:c.1450C>T, XM_047448233.1:c.1450C>G, NP_057015.2:p.Arg228Ter, NP_057015.2:p.Arg228Gly, NP_001243678.1:p.Arg228Ter, NP_001243678.1:p.Arg228Gly, NP_001243677.1:p.Arg301Ter, NP_001243677.1:p.Arg301Gly, XP_016862007.1:p.Arg477Ter, XP_016862007.1:p.Arg477Gly, XP_016862001.1:p.Arg484Ter, XP_016862001.1:p.Arg484Gly, XP_016862004.1:p.Arg484Ter, XP_016862004.1:p.Arg484Gly, XP_016862022.1:p.Arg409Ter, XP_016862022.1:p.Arg409Gly, XP_016862016.1:p.Arg416Ter, XP_016862016.1:p.Arg416Gly, XP_016862023.1:p.Arg391Ter, XP_016862023.1:p.Arg391Gly, XP_016862002.1:p.Arg484Ter, XP_016862002.1:p.Arg484Gly, XP_016862000.1:p.Arg484Ter, XP_016862000.1:p.Arg484Gly, XP_016862014.1:p.Arg442Ter, XP_016862014.1:p.Arg442Gly, XP_016862003.1:p.Arg484Ter, XP_016862003.1:p.Arg484Gly, XP_016862010.1:p.Arg452Ter, XP_016862010.1:p.Arg452Gly, XP_016862011.1:p.Arg452Ter, XP_016862011.1:p.Arg452Gly, XP_016862013.1:p.Arg443Ter, XP_016862013.1:p.Arg443Gly, XP_016862005.1:p.Arg484Ter, XP_016862005.1:p.Arg484Gly, XP_016862006.1:p.Arg484Ter, XP_016862006.1:p.Arg484Gly, XP_016862012.1:p.Arg452Ter, XP_016862012.1:p.Arg452Gly, XP_016862017.1:p.Arg416Ter, XP_016862017.1:p.Arg416Gly, XP_016862018.1:p.Arg416Ter, XP_016862018.1:p.Arg416Gly, XP_016861999.2:p.Arg458Ter, XP_016861999.2:p.Arg458Gly, XP_016862009.2:p.Arg416Ter, XP_016862009.2:p.Arg416Gly, XP_016862008.2:p.Arg440Ter, XP_016862008.2:p.Arg440Gly, XP_016862015.1:p.Arg442Ter, XP_016862015.1:p.Arg442Gly, XP_016862030.1:p.Arg279Ter, XP_016862030.1:p.Arg279Gly, XP_016862031.1:p.Arg279Ter, XP_016862031.1:p.Arg279Gly, XP_047304193.1:p.Arg484Ter, XP_047304193.1:p.Arg484Gly, XP_047304186.1:p.Arg484Ter, XP_047304186.1:p.Arg484Gly, XP_047304190.1:p.Arg484Ter, XP_047304190.1:p.Arg484Gly, XP_047304187.1:p.Arg484Ter, XP_047304187.1:p.Arg484Gly, XP_047304192.1:p.Arg484Ter, XP_047304192.1:p.Arg484Gly, XP_047304191.1:p.Arg484Ter, XP_047304191.1:p.Arg484Gly, XP_047304189.1:p.Arg484Ter, XP_047304189.1:p.Arg484Gly

                                  17.

                                  rs1461237666 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    3:8634622 (GRCh38)
                                    3:8676308 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:8634621:T:A
                                    Gene:
                                    SSUH2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_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_000003.12:g.8634622T>A, NC_000003.11:g.8676308T>A, NR_046358.3:n.273A>T, NR_046358.2:n.273A>T, NR_046358.1:n.273A>T, XM_017006512.2:c.334A>T, XM_017006512.1:c.334A>T, XM_017006515.2:c.334A>T, XM_017006515.1:c.334A>T, XM_017006527.2:c.130A>T, XM_017006527.1:c.130A>T, XM_017006513.2:c.334A>T, XM_017006513.1:c.334A>T, XM_017006511.2:c.334A>T, XM_017006511.1:c.334A>T, XM_017006525.2:c.208A>T, XM_017006525.1:c.208A>T, XM_017006514.2:c.334A>T, XM_017006514.1:c.334A>T, XM_017006521.2:c.238A>T, XM_017006521.1:c.238A>T, XM_017006522.2:c.238A>T, XM_017006522.1:c.238A>T, XM_017006524.2:c.211A>T, XM_017006524.1:c.211A>T, XM_017006516.2:c.334A>T, XM_017006516.1:c.334A>T, XM_017006517.2:c.334A>T, XM_017006517.1:c.334A>T, XM_017006523.2:c.238A>T, XM_017006523.1:c.238A>T, XM_017006528.2:c.130A>T, XM_017006528.1:c.130A>T, XM_017006529.2:c.130A>T, XM_017006529.1:c.130A>T, XM_017006510.2:c.256A>T, XM_017006510.1:c.358A>T, XM_017006520.2:c.130A>T, XM_017006520.1:c.292A>T, XM_017006519.2:c.256A>T, XM_017006519.1:c.358A>T, XM_017006526.2:c.208A>T, XM_017006526.1:c.208A>T, XM_047448237.1:c.334A>T, XM_047448230.1:c.334A>T, XM_047448234.1:c.334A>T, XM_047448231.1:c.334A>T, XM_047448236.1:c.334A>T, XM_047448235.1:c.334A>T, XM_047448233.1:c.334A>T, XP_016862001.1:p.Ser112Cys, XP_016862004.1:p.Ser112Cys, XP_016862016.1:p.Ser44Cys, XP_016862002.1:p.Ser112Cys, XP_016862000.1:p.Ser112Cys, XP_016862014.1:p.Ser70Cys, XP_016862003.1:p.Ser112Cys, XP_016862010.1:p.Ser80Cys, XP_016862011.1:p.Ser80Cys, XP_016862013.1:p.Ser71Cys, XP_016862005.1:p.Ser112Cys, XP_016862006.1:p.Ser112Cys, XP_016862012.1:p.Ser80Cys, XP_016862017.1:p.Ser44Cys, XP_016862018.1:p.Ser44Cys, XP_016861999.2:p.Ser86Cys, XP_016862009.2:p.Ser44Cys, XP_016862008.2:p.Ser86Cys, XP_016862015.1:p.Ser70Cys, XP_047304193.1:p.Ser112Cys, XP_047304186.1:p.Ser112Cys, XP_047304190.1:p.Ser112Cys, XP_047304187.1:p.Ser112Cys, XP_047304192.1:p.Ser112Cys, XP_047304191.1:p.Ser112Cys, XP_047304189.1:p.Ser112Cys

                                    18.

                                    rs1459733614 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:8626315 (GRCh38)
                                      3:8668001 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:8626314:G:A
                                      Gene:
                                      SSUH2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000047/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.8626315G>A, NC_000003.11:g.8668001G>A, NM_015931.4:c.462C>T, NM_015931.3:c.615C>T, NM_015931.2:c.615C>T, NR_046358.3:n.969C>T, NR_046358.2:n.969C>T, NR_046358.1:n.969C>T, NM_001256749.3:c.462C>T, NM_001256749.2:c.462C>T, NM_001256749.1:c.462C>T, NM_001256748.3:c.681C>T, NM_001256748.2:c.681C>T, NM_001256748.1:c.681C>T, XM_017006518.2:c.1209C>T, XM_017006518.1:c.1209C>T, XM_017006512.2:c.1230C>T, XM_017006512.1:c.1230C>T, XM_017006515.2:c.1230C>T, XM_017006515.1:c.1230C>T, XM_017006533.2:c.1005C>T, XM_017006533.1:c.1005C>T, XM_017006527.2:c.1026C>T, XM_017006527.1:c.1026C>T, XM_017006534.2:c.951C>T, XM_017006534.1:c.951C>T, XM_017006513.2:c.1230C>T, XM_017006513.1:c.1230C>T, XM_017006511.2:c.1230C>T, XM_017006511.1:c.1230C>T, XM_017006525.2:c.1104C>T, XM_017006525.1:c.1104C>T, XM_017006514.2:c.1230C>T, XM_017006514.1:c.1230C>T, XM_017006521.2:c.1134C>T, XM_017006521.1:c.1134C>T, XM_017006522.2:c.1134C>T, XM_017006522.1:c.1134C>T, XM_017006524.2:c.1107C>T, XM_017006524.1:c.1107C>T, XM_017006516.2:c.1230C>T, XM_017006516.1:c.1230C>T, XM_017006517.2:c.1230C>T, XM_017006517.1:c.1230C>T, XM_017006523.2:c.1134C>T, XM_017006523.1:c.1134C>T, XM_017006528.2:c.1026C>T, XM_017006528.1:c.1026C>T, XM_017006529.2:c.1026C>T, XM_017006529.1:c.1026C>T, XM_017006510.2:c.1152C>T, XM_017006510.1:c.1254C>T, XM_017006520.2:c.1026C>T, XM_017006520.1:c.1188C>T, XM_017006519.2:c.1098C>T, XM_017006519.1:c.1200C>T, XM_017006526.2:c.1104C>T, XM_017006526.1:c.1104C>T, XM_017006541.2:c.615C>T, XM_017006541.1:c.615C>T, XM_017006542.2:c.615C>T, XM_017006542.1:c.615C>T, XM_047448237.1:c.1230C>T, XM_047448230.1:c.1230C>T, XM_047448234.1:c.1230C>T, XM_047448231.1:c.1230C>T, XM_047448236.1:c.1230C>T, XM_047448235.1:c.1230C>T, XM_047448233.1:c.1230C>T

                                      19.

                                      rs1459692795 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        3:8630896 (GRCh38)
                                        3:8672582 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:8630895:G:T
                                        Gene:
                                        SSUH2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000003.12:g.8630896G>T, NC_000003.11:g.8672582G>T, NM_015931.4:c.215C>A, NM_015931.3:c.368C>A, NM_015931.2:c.368C>A, NR_046358.3:n.722C>A, NR_046358.2:n.722C>A, NR_046358.1:n.722C>A, NM_001256749.3:c.215C>A, NM_001256749.2:c.215C>A, NM_001256749.1:c.215C>A, NM_001256748.3:c.434C>A, NM_001256748.2:c.434C>A, NM_001256748.1:c.434C>A, XM_017006518.2:c.962C>A, XM_017006518.1:c.962C>A, XM_017006512.2:c.983C>A, XM_017006512.1:c.983C>A, XM_017006515.2:c.983C>A, XM_017006515.1:c.983C>A, XM_017006533.2:c.758C>A, XM_017006533.1:c.758C>A, XM_017006527.2:c.779C>A, XM_017006527.1:c.779C>A, XM_017006534.2:c.704C>A, XM_017006534.1:c.704C>A, XM_017006513.2:c.983C>A, XM_017006513.1:c.983C>A, XM_017006511.2:c.983C>A, XM_017006511.1:c.983C>A, XM_017006525.2:c.857C>A, XM_017006525.1:c.857C>A, XM_017006514.2:c.983C>A, XM_017006514.1:c.983C>A, XM_017006521.2:c.887C>A, XM_017006521.1:c.887C>A, XM_017006522.2:c.887C>A, XM_017006522.1:c.887C>A, XM_017006524.2:c.860C>A, XM_017006524.1:c.860C>A, XM_017006516.2:c.983C>A, XM_017006516.1:c.983C>A, XM_017006517.2:c.983C>A, XM_017006517.1:c.983C>A, XM_017006523.2:c.887C>A, XM_017006523.1:c.887C>A, XM_017006528.2:c.779C>A, XM_017006528.1:c.779C>A, XM_017006529.2:c.779C>A, XM_017006529.1:c.779C>A, XM_017006510.2:c.905C>A, XM_017006510.1:c.1007C>A, XM_017006520.2:c.779C>A, XM_017006520.1:c.941C>A, XM_017006519.2:c.851C>A, XM_017006519.1:c.953C>A, XM_017006526.2:c.857C>A, XM_017006526.1:c.857C>A, XM_017006541.2:c.368C>A, XM_017006541.1:c.368C>A, XM_017006542.2:c.368C>A, XM_017006542.1:c.368C>A, XM_047448237.1:c.983C>A, XM_047448230.1:c.983C>A, XM_047448234.1:c.983C>A, XM_047448231.1:c.983C>A, XM_047448236.1:c.983C>A, XM_047448235.1:c.983C>A, XM_047448233.1:c.983C>A, NP_057015.2:p.Ser72Tyr, NP_001243678.1:p.Ser72Tyr, NP_001243677.1:p.Ser145Tyr, XP_016862007.1:p.Ser321Tyr, XP_016862001.1:p.Ser328Tyr, XP_016862004.1:p.Ser328Tyr, XP_016862022.1:p.Ser253Tyr, XP_016862016.1:p.Ser260Tyr, XP_016862023.1:p.Ser235Tyr, XP_016862002.1:p.Ser328Tyr, XP_016862000.1:p.Ser328Tyr, XP_016862014.1:p.Ser286Tyr, XP_016862003.1:p.Ser328Tyr, XP_016862010.1:p.Ser296Tyr, XP_016862011.1:p.Ser296Tyr, XP_016862013.1:p.Ser287Tyr, XP_016862005.1:p.Ser328Tyr, XP_016862006.1:p.Ser328Tyr, XP_016862012.1:p.Ser296Tyr, XP_016862017.1:p.Ser260Tyr, XP_016862018.1:p.Ser260Tyr, XP_016861999.2:p.Ser302Tyr, XP_016862009.2:p.Ser260Tyr, XP_016862008.2:p.Ser284Tyr, XP_016862015.1:p.Ser286Tyr, XP_016862030.1:p.Ser123Tyr, XP_016862031.1:p.Ser123Tyr, XP_047304193.1:p.Ser328Tyr, XP_047304186.1:p.Ser328Tyr, XP_047304190.1:p.Ser328Tyr, XP_047304187.1:p.Ser328Tyr, XP_047304192.1:p.Ser328Tyr, XP_047304191.1:p.Ser328Tyr, XP_047304189.1:p.Ser328Tyr

                                        20.

                                        rs1458716309 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:8623566 (GRCh38)
                                          3:8665252 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:8623565:C:T
                                          Gene:
                                          SSUH2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.8623566C>T, NC_000003.11:g.8665252C>T, NM_015931.4:c.745G>A, NM_015931.3:c.898G>A, NM_015931.2:c.898G>A, NR_046358.3:n.1252G>A, NR_046358.2:n.1252G>A, NR_046358.1:n.1252G>A, NM_001256749.3:c.745G>A, NM_001256749.2:c.745G>A, NM_001256749.1:c.745G>A, NM_001256748.3:c.964G>A, NM_001256748.2:c.964G>A, NM_001256748.1:c.964G>A, XM_017006518.2:c.1492G>A, XM_017006518.1:c.1492G>A, XM_017006512.2:c.1513G>A, XM_017006512.1:c.1513G>A, XM_017006515.2:c.1513G>A, XM_017006515.1:c.1513G>A, XM_017006533.2:c.1288G>A, XM_017006533.1:c.1288G>A, XM_017006527.2:c.1309G>A, XM_017006527.1:c.1309G>A, XM_017006534.2:c.1234G>A, XM_017006534.1:c.1234G>A, XM_017006513.2:c.1513G>A, XM_017006513.1:c.1513G>A, XM_017006511.2:c.1513G>A, XM_017006511.1:c.1513G>A, XM_017006525.2:c.1387G>A, XM_017006525.1:c.1387G>A, XM_017006514.2:c.1513G>A, XM_017006514.1:c.1513G>A, XM_017006521.2:c.1417G>A, XM_017006521.1:c.1417G>A, XM_017006522.2:c.1417G>A, XM_017006522.1:c.1417G>A, XM_017006524.2:c.1390G>A, XM_017006524.1:c.1390G>A, XM_017006516.2:c.1513G>A, XM_017006516.1:c.1513G>A, XM_017006517.2:c.1513G>A, XM_017006517.1:c.1513G>A, XM_017006523.2:c.1417G>A, XM_017006523.1:c.1417G>A, XM_017006528.2:c.1309G>A, XM_017006528.1:c.1309G>A, XM_017006529.2:c.1309G>A, XM_017006529.1:c.1309G>A, XM_017006510.2:c.1435G>A, XM_017006510.1:c.1537G>A, XM_017006520.2:c.1309G>A, XM_017006520.1:c.1471G>A, XM_017006519.2:c.1381G>A, XM_017006519.1:c.1483G>A, XM_017006526.2:c.1387G>A, XM_017006526.1:c.1387G>A, XM_017006541.2:c.898G>A, XM_017006541.1:c.898G>A, XM_017006542.2:c.898G>A, XM_017006542.1:c.898G>A, XM_047448237.1:c.1513G>A, XM_047448230.1:c.1513G>A, XM_047448234.1:c.1513G>A, XM_047448231.1:c.1513G>A, XM_047448236.1:c.1513G>A, XM_047448235.1:c.1513G>A, XM_047448233.1:c.1513G>A, NP_057015.2:p.Ala249Thr, NP_001243678.1:p.Ala249Thr, NP_001243677.1:p.Ala322Thr, XP_016862007.1:p.Ala498Thr, XP_016862001.1:p.Ala505Thr, XP_016862004.1:p.Ala505Thr, XP_016862022.1:p.Ala430Thr, XP_016862016.1:p.Ala437Thr, XP_016862023.1:p.Ala412Thr, XP_016862002.1:p.Ala505Thr, XP_016862000.1:p.Ala505Thr, XP_016862014.1:p.Ala463Thr, XP_016862003.1:p.Ala505Thr, XP_016862010.1:p.Ala473Thr, XP_016862011.1:p.Ala473Thr, XP_016862013.1:p.Ala464Thr, XP_016862005.1:p.Ala505Thr, XP_016862006.1:p.Ala505Thr, XP_016862012.1:p.Ala473Thr, XP_016862017.1:p.Ala437Thr, XP_016862018.1:p.Ala437Thr, XP_016861999.2:p.Ala479Thr, XP_016862009.2:p.Ala437Thr, XP_016862008.2:p.Ala461Thr, XP_016862015.1:p.Ala463Thr, XP_016862030.1:p.Ala300Thr, XP_016862031.1:p.Ala300Thr, XP_047304193.1:p.Ala505Thr, XP_047304186.1:p.Ala505Thr, XP_047304190.1:p.Ala505Thr, XP_047304187.1:p.Ala505Thr, XP_047304192.1:p.Ala505Thr, XP_047304191.1:p.Ala505Thr, XP_047304189.1:p.Ala505Thr

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