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Items: 1 to 20 of 665

1.

rs1489263390 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:28768208 (GRCh38)
    8:28625725 (GRCh37)
    Canonical SPDI:
    NC_000008.11:28768207:T:C
    Gene:
    INTS9 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.28768208T>C, NC_000008.10:g.28625725T>C, NG_016981.2:g.126974A>G, NM_018250.4:c.1915A>G, NM_018250.3:c.1915A>G, NM_001145159.3:c.1852A>G, NM_001145159.2:c.1852A>G, NR_026826.3:n.1811A>G, NR_026826.2:n.2023A>G, NM_001363038.2:c.1969A>G, NM_001363038.1:c.1969A>G, NM_001172562.2:c.1843A>G, NM_001172562.1:c.1843A>G, XM_006716357.5:c.*1399A>G, XM_011544575.3:c.1897A>G, XM_011544575.2:c.1897A>G, XM_011544575.1:c.1897A>G, XM_011544576.3:c.1834A>G, XM_011544576.2:c.1834A>G, XM_011544576.1:c.1834A>G, XM_011544573.2:c.1906A>G, XM_011544573.1:c.1906A>G, XM_047421954.1:c.*1399A>G, XM_047421957.1:c.*1399A>G, XM_011544574.1:c.1897A>G, XM_047421955.1:c.1780A>G, XM_047421956.1:c.1771A>G, XM_047421958.1:c.1717A>G, NP_060720.2:p.Asn639Asp, NP_001138631.1:p.Asn618Asp, NP_001349967.1:p.Asn657Asp, NP_001166033.1:p.Asn615Asp, XP_011542877.1:p.Asn633Asp, XP_011542878.1:p.Asn612Asp, XP_011542875.1:p.Asn636Asp, XP_011542876.1:p.Asn633Asp, XP_047277911.1:p.Asn594Asp, XP_047277912.1:p.Asn591Asp, XP_047277914.1:p.Asn573Asp

    2.

    rs1488200204 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      8:28813576 (GRCh38)
      8:28671093 (GRCh37)
      Canonical SPDI:
      NC_000008.11:28813575:G:T
      Gene:
      INTS9 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000008/2 (GnomAD_exomes)
      HGVS:

      3.

      rs1487977305 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:28768296 (GRCh38)
        8:28625813 (GRCh37)
        Canonical SPDI:
        NC_000008.11:28768295:C:T
        Gene:
        INTS9 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:

        4.

        rs1487625331 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          8:28769924 (GRCh38)
          8:28627441 (GRCh37)
          Canonical SPDI:
          NC_000008.11:28769923:T:G
          Gene:
          INTS9 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000048/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000011/3 (TOPMED)
          G=0.000021/3 (GnomAD)
          HGVS:
          NC_000008.11:g.28769924T>G, NC_000008.10:g.28627441T>G, NG_016981.2:g.125258A>C, NM_018250.4:c.1765A>C, NM_018250.3:c.1765A>C, NM_001145159.3:c.1702A>C, NM_001145159.2:c.1702A>C, NR_026826.3:n.1661A>C, NR_026826.2:n.1873A>C, NM_001363038.2:c.1765A>C, NM_001363038.1:c.1765A>C, NM_001172562.2:c.1693A>C, NM_001172562.1:c.1693A>C, XM_006716357.5:c.1765A>C, XM_006716357.4:c.1765A>C, XM_006716357.3:c.1765A>C, XM_006716357.2:c.1765A>C, XM_006716357.1:c.1765A>C, XM_011544575.3:c.1693A>C, XM_011544575.2:c.1693A>C, XM_011544575.1:c.1693A>C, XM_011544576.3:c.1630A>C, XM_011544576.2:c.1630A>C, XM_011544576.1:c.1630A>C, XM_011544573.2:c.1702A>C, XM_011544573.1:c.1702A>C, XM_047421954.1:c.1702A>C, XM_047421957.1:c.1630A>C, XM_011544574.1:c.1693A>C, XM_047421955.1:c.1630A>C, XM_047421956.1:c.1567A>C, XM_047421958.1:c.1567A>C, NP_060720.2:p.Ile589Leu, NP_001138631.1:p.Ile568Leu, NP_001349967.1:p.Ile589Leu, NP_001166033.1:p.Ile565Leu, XP_006716420.1:p.Ile589Leu, XP_011542877.1:p.Ile565Leu, XP_011542878.1:p.Ile544Leu, XP_011542875.1:p.Ile568Leu, XP_047277910.1:p.Ile568Leu, XP_047277913.1:p.Ile544Leu, XP_011542876.1:p.Ile565Leu, XP_047277911.1:p.Ile544Leu, XP_047277912.1:p.Ile523Leu, XP_047277914.1:p.Ile523Leu

          5.

          rs1482303524 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            8:28770988 (GRCh38)
            8:28628506 (GRCh37)
            Canonical SPDI:
            NC_000008.11:28770988:AA:AAA
            Gene:
            INTS9 (Varview)
            Functional Consequence:
            frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.28770990dup, NC_000008.10:g.28628507dup, NG_016981.2:g.124193dup, NM_018250.4:c.1655dup, NM_018250.3:c.1655dup, NM_001145159.3:c.1592dup, NM_001145159.2:c.1592dup, NR_026826.3:n.1551dup, NR_026826.2:n.1763dup, NM_001363038.2:c.1655dup, NM_001363038.1:c.1655dup, NM_001172562.2:c.1583dup, NM_001172562.1:c.1583dup, XM_006716357.5:c.1655dup, XM_006716357.4:c.1655dup, XM_006716357.3:c.1655dup, XM_006716357.2:c.1655dup, XM_006716357.1:c.1655dup, XM_011544575.3:c.1583dup, XM_011544575.2:c.1583dup, XM_011544575.1:c.1583dup, XM_011544576.3:c.1520dup, XM_011544576.2:c.1520dup, XM_011544576.1:c.1520dup, XM_011544573.2:c.1592dup, XM_011544573.1:c.1592dup, XM_047421954.1:c.1592dup, XM_047421957.1:c.1520dup, XM_011544574.1:c.1583dup, XM_047421955.1:c.1520dup, XM_047421956.1:c.1457dup, XM_047421958.1:c.1457dup, NP_060720.2:p.Leu552fs, NP_001138631.1:p.Leu531fs, NP_001349967.1:p.Leu552fs, NP_001166033.1:p.Leu528fs, XP_006716420.1:p.Leu552fs, XP_011542877.1:p.Leu528fs, XP_011542878.1:p.Leu507fs, XP_011542875.1:p.Leu531fs, XP_047277910.1:p.Leu531fs, XP_047277913.1:p.Leu507fs, XP_011542876.1:p.Leu528fs, XP_047277911.1:p.Leu507fs, XP_047277912.1:p.Leu486fs, XP_047277914.1:p.Leu486fs

            6.

            rs1482027580 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              8:28835327 (GRCh38)
              8:28692844 (GRCh37)
              Canonical SPDI:
              NC_000008.11:28835326:C:A,NC_000008.11:28835326:C:T
              Gene:
              INTS9 (Varview)
              Functional Consequence:
              missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000031/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000008.11:g.28835327C>A, NC_000008.11:g.28835327C>T, NC_000008.10:g.28692844C>A, NC_000008.10:g.28692844C>T, NG_016981.2:g.59855G>T, NG_016981.2:g.59855G>A, NM_018250.4:c.453G>T, NM_018250.4:c.453G>A, NM_018250.3:c.453G>T, NM_018250.3:c.453G>A, NM_001145159.3:c.390G>T, NM_001145159.3:c.390G>A, NM_001145159.2:c.390G>T, NM_001145159.2:c.390G>A, NR_026826.3:n.349G>T, NR_026826.3:n.349G>A, NR_026826.2:n.561G>T, NR_026826.2:n.561G>A, NM_001363038.2:c.453G>T, NM_001363038.2:c.453G>A, NM_001363038.1:c.453G>T, NM_001363038.1:c.453G>A, NM_001172562.2:c.381G>T, NM_001172562.2:c.381G>A, NM_001172562.1:c.381G>T, NM_001172562.1:c.381G>A, XM_006716357.5:c.453G>T, XM_006716357.5:c.453G>A, XM_006716357.4:c.453G>T, XM_006716357.4:c.453G>A, XM_006716357.3:c.453G>T, XM_006716357.3:c.453G>A, XM_006716357.2:c.453G>T, XM_006716357.2:c.453G>A, XM_006716357.1:c.453G>T, XM_006716357.1:c.453G>A, XM_011544575.3:c.381G>T, XM_011544575.3:c.381G>A, XM_011544575.2:c.381G>T, XM_011544575.2:c.381G>A, XM_011544575.1:c.381G>T, XM_011544575.1:c.381G>A, XM_011544576.3:c.453G>T, XM_011544576.3:c.453G>A, XM_011544576.2:c.453G>T, XM_011544576.2:c.453G>A, XM_011544576.1:c.453G>T, XM_011544576.1:c.453G>A, XM_011544573.2:c.390G>T, XM_011544573.2:c.390G>A, XM_011544573.1:c.390G>T, XM_011544573.1:c.390G>A, XM_047421954.1:c.390G>T, XM_047421954.1:c.390G>A, XM_047421957.1:c.453G>T, XM_047421957.1:c.453G>A, XM_011544574.1:c.381G>T, XM_011544574.1:c.381G>A, XM_047421955.1:c.453G>T, XM_047421955.1:c.453G>A, XM_047421956.1:c.390G>T, XM_047421956.1:c.390G>A, XM_047421958.1:c.390G>T, XM_047421958.1:c.390G>A, NP_060720.2:p.Gln151His, NP_001138631.1:p.Gln130His, NP_001349967.1:p.Gln151His, NP_001166033.1:p.Gln127His, XP_006716420.1:p.Gln151His, XP_011542877.1:p.Gln127His, XP_011542878.1:p.Gln151His, XP_011542875.1:p.Gln130His, XP_047277910.1:p.Gln130His, XP_047277913.1:p.Gln151His, XP_011542876.1:p.Gln127His, XP_047277911.1:p.Gln151His, XP_047277912.1:p.Gln130His, XP_047277914.1:p.Gln130His

              7.

              rs1481669023 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:28777895 (GRCh38)
                8:28635412 (GRCh37)
                Canonical SPDI:
                NC_000008.11:28777894:G:A
                Gene:
                INTS9 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.28777895G>A, NC_000008.10:g.28635412G>A, NG_016981.2:g.117287C>T, NM_018250.4:c.1329C>T, NM_018250.3:c.1329C>T, NM_001145159.3:c.1266C>T, NM_001145159.2:c.1266C>T, NR_026826.3:n.1225C>T, NR_026826.2:n.1437C>T, NM_001363038.2:c.1329C>T, NM_001363038.1:c.1329C>T, NM_001172562.2:c.1257C>T, NM_001172562.1:c.1257C>T, XM_006716357.5:c.1329C>T, XM_006716357.4:c.1329C>T, XM_006716357.3:c.1329C>T, XM_006716357.2:c.1329C>T, XM_006716357.1:c.1329C>T, XM_011544575.3:c.1257C>T, XM_011544575.2:c.1257C>T, XM_011544575.1:c.1257C>T, XM_011544576.3:c.1194C>T, XM_011544576.2:c.1194C>T, XM_011544576.1:c.1194C>T, XM_011544573.2:c.1266C>T, XM_011544573.1:c.1266C>T, XM_047421954.1:c.1266C>T, XM_047421957.1:c.1194C>T, XM_011544574.1:c.1257C>T, XM_047421955.1:c.1194C>T, XM_047421956.1:c.1131C>T, XM_047421958.1:c.1131C>T

                8.

                rs1480971203 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:28813590 (GRCh38)
                  8:28671107 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:28813589:C:T
                  Gene:
                  INTS9 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000008.11:g.28813590C>T, NC_000008.10:g.28671107C>T, NG_016981.2:g.81592G>A, NM_018250.4:c.511G>A, NM_018250.3:c.511G>A, NM_001145159.3:c.448G>A, NM_001145159.2:c.448G>A, NR_026826.3:n.407G>A, NR_026826.2:n.619G>A, NM_001363038.2:c.511G>A, NM_001363038.1:c.511G>A, NM_001172562.2:c.439G>A, NM_001172562.1:c.439G>A, XM_006716357.5:c.511G>A, XM_006716357.4:c.511G>A, XM_006716357.3:c.511G>A, XM_006716357.2:c.511G>A, XM_006716357.1:c.511G>A, XM_011544575.3:c.439G>A, XM_011544575.2:c.439G>A, XM_011544575.1:c.439G>A, XM_011544576.3:c.511G>A, XM_011544576.2:c.511G>A, XM_011544576.1:c.511G>A, XM_011544573.2:c.448G>A, XM_011544573.1:c.448G>A, XM_047421954.1:c.448G>A, XM_047421957.1:c.511G>A, XM_011544574.1:c.439G>A, XM_047421955.1:c.511G>A, XM_047421956.1:c.448G>A, XM_047421958.1:c.448G>A, NP_060720.2:p.Asp171Asn, NP_001138631.1:p.Asp150Asn, NP_001349967.1:p.Asp171Asn, NP_001166033.1:p.Asp147Asn, XP_006716420.1:p.Asp171Asn, XP_011542877.1:p.Asp147Asn, XP_011542878.1:p.Asp171Asn, XP_011542875.1:p.Asp150Asn, XP_047277910.1:p.Asp150Asn, XP_047277913.1:p.Asp171Asn, XP_011542876.1:p.Asp147Asn, XP_047277911.1:p.Asp171Asn, XP_047277912.1:p.Asp150Asn, XP_047277914.1:p.Asp150Asn

                  9.

                  rs1479128359 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    8:28775920 (GRCh38)
                    8:28633437 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:28775919:G:T
                    Gene:
                    INTS9 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_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_000008.11:g.28775920G>T, NC_000008.10:g.28633437G>T, NG_016981.2:g.119262C>A, NM_018250.4:c.1402C>A, NM_018250.3:c.1402C>A, NM_001145159.3:c.1339C>A, NM_001145159.2:c.1339C>A, NR_026826.3:n.1298C>A, NR_026826.2:n.1510C>A, NM_001363038.2:c.1402C>A, NM_001363038.1:c.1402C>A, NM_001172562.2:c.1330C>A, NM_001172562.1:c.1330C>A, XM_006716357.5:c.1402C>A, XM_006716357.4:c.1402C>A, XM_006716357.3:c.1402C>A, XM_006716357.2:c.1402C>A, XM_006716357.1:c.1402C>A, XM_011544575.3:c.1330C>A, XM_011544575.2:c.1330C>A, XM_011544575.1:c.1330C>A, XM_011544576.3:c.1267C>A, XM_011544576.2:c.1267C>A, XM_011544576.1:c.1267C>A, XM_011544573.2:c.1339C>A, XM_011544573.1:c.1339C>A, XM_047421954.1:c.1339C>A, XM_047421957.1:c.1267C>A, XM_011544574.1:c.1330C>A, XM_047421955.1:c.1267C>A, XM_047421956.1:c.1204C>A, XM_047421958.1:c.1204C>A, NP_060720.2:p.His468Asn, NP_001138631.1:p.His447Asn, NP_001349967.1:p.His468Asn, NP_001166033.1:p.His444Asn, XP_006716420.1:p.His468Asn, XP_011542877.1:p.His444Asn, XP_011542878.1:p.His423Asn, XP_011542875.1:p.His447Asn, XP_047277910.1:p.His447Asn, XP_047277913.1:p.His423Asn, XP_011542876.1:p.His444Asn, XP_047277911.1:p.His423Asn, XP_047277912.1:p.His402Asn, XP_047277914.1:p.His402Asn

                    10.

                    rs1477835046 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      8:28769942 (GRCh38)
                      8:28627459 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:28769941:G:T
                      Gene:
                      INTS9 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000008.11:g.28769942G>T, NC_000008.10:g.28627459G>T, NG_016981.2:g.125240C>A, NM_018250.4:c.1747C>A, NM_018250.3:c.1747C>A, NM_001145159.3:c.1684C>A, NM_001145159.2:c.1684C>A, NR_026826.3:n.1643C>A, NR_026826.2:n.1855C>A, NM_001363038.2:c.1747C>A, NM_001363038.1:c.1747C>A, NM_001172562.2:c.1675C>A, NM_001172562.1:c.1675C>A, XM_006716357.5:c.1747C>A, XM_006716357.4:c.1747C>A, XM_006716357.3:c.1747C>A, XM_006716357.2:c.1747C>A, XM_006716357.1:c.1747C>A, XM_011544575.3:c.1675C>A, XM_011544575.2:c.1675C>A, XM_011544575.1:c.1675C>A, XM_011544576.3:c.1612C>A, XM_011544576.2:c.1612C>A, XM_011544576.1:c.1612C>A, XM_011544573.2:c.1684C>A, XM_011544573.1:c.1684C>A, XM_047421954.1:c.1684C>A, XM_047421957.1:c.1612C>A, XM_011544574.1:c.1675C>A, XM_047421955.1:c.1612C>A, XM_047421956.1:c.1549C>A, XM_047421958.1:c.1549C>A, NP_060720.2:p.Pro583Thr, NP_001138631.1:p.Pro562Thr, NP_001349967.1:p.Pro583Thr, NP_001166033.1:p.Pro559Thr, XP_006716420.1:p.Pro583Thr, XP_011542877.1:p.Pro559Thr, XP_011542878.1:p.Pro538Thr, XP_011542875.1:p.Pro562Thr, XP_047277910.1:p.Pro562Thr, XP_047277913.1:p.Pro538Thr, XP_011542876.1:p.Pro559Thr, XP_047277911.1:p.Pro538Thr, XP_047277912.1:p.Pro517Thr, XP_047277914.1:p.Pro517Thr

                      11.

                      rs1477356558 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:28796609 (GRCh38)
                        8:28654126 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:28796608:G:A
                        Gene:
                        INTS9 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.28796609G>A, NC_000008.10:g.28654126G>A, NG_016981.2:g.98573C>T, NM_018250.4:c.791C>T, NM_018250.3:c.791C>T, NM_001145159.3:c.728C>T, NM_001145159.2:c.728C>T, NR_026826.3:n.687C>T, NR_026826.2:n.899C>T, NM_001363038.2:c.791C>T, NM_001363038.1:c.791C>T, NM_001172562.2:c.719C>T, NM_001172562.1:c.719C>T, XM_006716357.5:c.791C>T, XM_006716357.4:c.791C>T, XM_006716357.3:c.791C>T, XM_006716357.2:c.791C>T, XM_006716357.1:c.791C>T, XM_011544575.3:c.719C>T, XM_011544575.2:c.719C>T, XM_011544575.1:c.719C>T, XM_011544576.3:c.656C>T, XM_011544576.2:c.656C>T, XM_011544576.1:c.656C>T, XM_011544573.2:c.728C>T, XM_011544573.1:c.728C>T, XM_047421954.1:c.728C>T, XM_047421957.1:c.656C>T, XM_011544574.1:c.719C>T, XM_047421955.1:c.656C>T, XM_047421956.1:c.593C>T, XM_047421958.1:c.593C>T, NP_060720.2:p.Thr264Ile, NP_001138631.1:p.Thr243Ile, NP_001349967.1:p.Thr264Ile, NP_001166033.1:p.Thr240Ile, XP_006716420.1:p.Thr264Ile, XP_011542877.1:p.Thr240Ile, XP_011542878.1:p.Thr219Ile, XP_011542875.1:p.Thr243Ile, XP_047277910.1:p.Thr243Ile, XP_047277913.1:p.Thr219Ile, XP_011542876.1:p.Thr240Ile, XP_047277911.1:p.Thr219Ile, XP_047277912.1:p.Thr198Ile, XP_047277914.1:p.Thr198Ile

                        12.

                        rs1476285438 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          8:28771074 (GRCh38)
                          8:28628591 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:28771072:TCT:T
                          Gene:
                          INTS9 (Varview)
                          Functional Consequence:
                          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.28771074_28771075del, NC_000008.10:g.28628591_28628592del, NG_016981.2:g.124108_124109del, NM_018250.4:c.1570_1571del, NM_018250.3:c.1570_1571del, NM_001145159.3:c.1507_1508del, NM_001145159.2:c.1507_1508del, NR_026826.3:n.1466_1467del, NR_026826.2:n.1678_1679del, NM_001363038.2:c.1570_1571del, NM_001363038.1:c.1570_1571del, NM_001172562.2:c.1498_1499del, NM_001172562.1:c.1498_1499del, XM_006716357.5:c.1570_1571del, XM_006716357.4:c.1570_1571del, XM_006716357.3:c.1570_1571del, XM_006716357.2:c.1570_1571del, XM_006716357.1:c.1570_1571del, XM_011544575.3:c.1498_1499del, XM_011544575.2:c.1498_1499del, XM_011544575.1:c.1498_1499del, XM_011544576.3:c.1435_1436del, XM_011544576.2:c.1435_1436del, XM_011544576.1:c.1435_1436del, XM_011544573.2:c.1507_1508del, XM_011544573.1:c.1507_1508del, XM_047421954.1:c.1507_1508del, XM_047421957.1:c.1435_1436del, XM_011544574.1:c.1498_1499del, XM_047421955.1:c.1435_1436del, XM_047421956.1:c.1372_1373del, XM_047421958.1:c.1372_1373del, NP_060720.2:p.Asp524fs, NP_001138631.1:p.Asp503fs, NP_001349967.1:p.Asp524fs, NP_001166033.1:p.Asp500fs, XP_006716420.1:p.Asp524fs, XP_011542877.1:p.Asp500fs, XP_011542878.1:p.Asp479fs, XP_011542875.1:p.Asp503fs, XP_047277910.1:p.Asp503fs, XP_047277913.1:p.Asp479fs, XP_011542876.1:p.Asp500fs, XP_047277911.1:p.Asp479fs, XP_047277912.1:p.Asp458fs, XP_047277914.1:p.Asp458fs

                          13.

                          rs1476215196 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:28780836 (GRCh38)
                            8:28638353 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:28780835:G:A
                            Gene:
                            INTS9 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000008.11:g.28780836G>A, NC_000008.10:g.28638353G>A, NG_016981.2:g.114346C>T, NM_018250.4:c.1257C>T, NM_018250.3:c.1257C>T, NM_001145159.3:c.1194C>T, NM_001145159.2:c.1194C>T, NR_026826.3:n.1153C>T, NR_026826.2:n.1365C>T, NM_001363038.2:c.1257C>T, NM_001363038.1:c.1257C>T, NM_001172562.2:c.1185C>T, NM_001172562.1:c.1185C>T, XM_006716357.5:c.1257C>T, XM_006716357.4:c.1257C>T, XM_006716357.3:c.1257C>T, XM_006716357.2:c.1257C>T, XM_006716357.1:c.1257C>T, XM_011544575.3:c.1185C>T, XM_011544575.2:c.1185C>T, XM_011544575.1:c.1185C>T, XM_011544576.3:c.1122C>T, XM_011544576.2:c.1122C>T, XM_011544576.1:c.1122C>T, XM_011544573.2:c.1194C>T, XM_011544573.1:c.1194C>T, XM_047421954.1:c.1194C>T, XM_047421957.1:c.1122C>T, XM_011544574.1:c.1185C>T, XM_047421955.1:c.1122C>T, XM_047421956.1:c.1059C>T, XM_047421958.1:c.1059C>T

                            14.

                            rs1475463382 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:28770993 (GRCh38)
                              8:28628510 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:28770992:G:A
                              Gene:
                              INTS9 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.28770993G>A, NC_000008.10:g.28628510G>A, NG_016981.2:g.124189C>T, NM_018250.4:c.1651C>T, NM_018250.3:c.1651C>T, NM_001145159.3:c.1588C>T, NM_001145159.2:c.1588C>T, NR_026826.3:n.1547C>T, NR_026826.2:n.1759C>T, NM_001363038.2:c.1651C>T, NM_001363038.1:c.1651C>T, NM_001172562.2:c.1579C>T, NM_001172562.1:c.1579C>T, XM_006716357.5:c.1651C>T, XM_006716357.4:c.1651C>T, XM_006716357.3:c.1651C>T, XM_006716357.2:c.1651C>T, XM_006716357.1:c.1651C>T, XM_011544575.3:c.1579C>T, XM_011544575.2:c.1579C>T, XM_011544575.1:c.1579C>T, XM_011544576.3:c.1516C>T, XM_011544576.2:c.1516C>T, XM_011544576.1:c.1516C>T, XM_011544573.2:c.1588C>T, XM_011544573.1:c.1588C>T, XM_047421954.1:c.1588C>T, XM_047421957.1:c.1516C>T, XM_011544574.1:c.1579C>T, XM_047421955.1:c.1516C>T, XM_047421956.1:c.1453C>T, XM_047421958.1:c.1453C>T, NP_060720.2:p.His551Tyr, NP_001138631.1:p.His530Tyr, NP_001349967.1:p.His551Tyr, NP_001166033.1:p.His527Tyr, XP_006716420.1:p.His551Tyr, XP_011542877.1:p.His527Tyr, XP_011542878.1:p.His506Tyr, XP_011542875.1:p.His530Tyr, XP_047277910.1:p.His530Tyr, XP_047277913.1:p.His506Tyr, XP_011542876.1:p.His527Tyr, XP_047277911.1:p.His506Tyr, XP_047277912.1:p.His485Tyr, XP_047277914.1:p.His485Tyr

                              15.

                              rs1474806638 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:28777901 (GRCh38)
                                8:28635418 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:28777900:C:T
                                Gene:
                                INTS9 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.28777901C>T, NC_000008.10:g.28635418C>T, NG_016981.2:g.117281G>A, NM_018250.4:c.1323G>A, NM_018250.3:c.1323G>A, NM_001145159.3:c.1260G>A, NM_001145159.2:c.1260G>A, NR_026826.3:n.1219G>A, NR_026826.2:n.1431G>A, NM_001363038.2:c.1323G>A, NM_001363038.1:c.1323G>A, NM_001172562.2:c.1251G>A, NM_001172562.1:c.1251G>A, XM_006716357.5:c.1323G>A, XM_006716357.4:c.1323G>A, XM_006716357.3:c.1323G>A, XM_006716357.2:c.1323G>A, XM_006716357.1:c.1323G>A, XM_011544575.3:c.1251G>A, XM_011544575.2:c.1251G>A, XM_011544575.1:c.1251G>A, XM_011544576.3:c.1188G>A, XM_011544576.2:c.1188G>A, XM_011544576.1:c.1188G>A, XM_011544573.2:c.1260G>A, XM_011544573.1:c.1260G>A, XM_047421954.1:c.1260G>A, XM_047421957.1:c.1188G>A, XM_011544574.1:c.1251G>A, XM_047421955.1:c.1188G>A, XM_047421956.1:c.1125G>A, XM_047421958.1:c.1125G>A, NP_060720.2:p.Met441Ile, NP_001138631.1:p.Met420Ile, NP_001349967.1:p.Met441Ile, NP_001166033.1:p.Met417Ile, XP_006716420.1:p.Met441Ile, XP_011542877.1:p.Met417Ile, XP_011542878.1:p.Met396Ile, XP_011542875.1:p.Met420Ile, XP_047277910.1:p.Met420Ile, XP_047277913.1:p.Met396Ile, XP_011542876.1:p.Met417Ile, XP_047277911.1:p.Met396Ile, XP_047277912.1:p.Met375Ile, XP_047277914.1:p.Met375Ile

                                16.

                                rs1473125256 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:28812419 (GRCh38)
                                  8:28669936 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:28812418:A:G
                                  Gene:
                                  INTS9 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.28812419A>G, NC_000008.10:g.28669936A>G, NG_016981.2:g.82763T>C, NM_018250.4:c.652T>C, NM_018250.3:c.652T>C, NM_001145159.3:c.589T>C, NM_001145159.2:c.589T>C, NR_026826.3:n.548T>C, NR_026826.2:n.760T>C, NM_001363038.2:c.652T>C, NM_001363038.1:c.652T>C, NM_001172562.2:c.580T>C, NM_001172562.1:c.580T>C, XM_006716357.5:c.652T>C, XM_006716357.4:c.652T>C, XM_006716357.3:c.652T>C, XM_006716357.2:c.652T>C, XM_006716357.1:c.652T>C, XM_011544575.3:c.580T>C, XM_011544575.2:c.580T>C, XM_011544575.1:c.580T>C, XM_011544573.2:c.589T>C, XM_011544573.1:c.589T>C, XM_047421954.1:c.589T>C, XM_011544574.1:c.580T>C, NP_060720.2:p.Tyr218His, NP_001138631.1:p.Tyr197His, NP_001349967.1:p.Tyr218His, NP_001166033.1:p.Tyr194His, XP_006716420.1:p.Tyr218His, XP_011542877.1:p.Tyr194His, XP_011542875.1:p.Tyr197His, XP_047277910.1:p.Tyr197His, XP_011542876.1:p.Tyr194His

                                  17.

                                  rs1472471524 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:28837721 (GRCh38)
                                    8:28695238 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:28837720:C:T
                                    Gene:
                                    INTS9 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000111/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.28837721C>T, NC_000008.10:g.28695238C>T, NG_016981.2:g.57461G>A, NM_018250.4:c.317G>A, NM_018250.3:c.317G>A, NM_001145159.3:c.254G>A, NM_001145159.2:c.254G>A, NR_026826.3:n.213G>A, NR_026826.2:n.425G>A, NM_001363038.2:c.317G>A, NM_001363038.1:c.317G>A, NM_001172562.2:c.245G>A, NM_001172562.1:c.245G>A, XM_006716357.5:c.317G>A, XM_006716357.4:c.317G>A, XM_006716357.3:c.317G>A, XM_006716357.2:c.317G>A, XM_006716357.1:c.317G>A, XM_011544575.3:c.245G>A, XM_011544575.2:c.245G>A, XM_011544575.1:c.245G>A, XM_011544576.3:c.317G>A, XM_011544576.2:c.317G>A, XM_011544576.1:c.317G>A, XM_011544573.2:c.254G>A, XM_011544573.1:c.254G>A, XM_047421954.1:c.254G>A, XM_047421957.1:c.317G>A, XM_011544574.1:c.245G>A, XM_047421955.1:c.317G>A, XM_047421956.1:c.254G>A, XM_047421958.1:c.254G>A, NP_060720.2:p.Cys106Tyr, NP_001138631.1:p.Cys85Tyr, NP_001349967.1:p.Cys106Tyr, NP_001166033.1:p.Cys82Tyr, XP_006716420.1:p.Cys106Tyr, XP_011542877.1:p.Cys82Tyr, XP_011542878.1:p.Cys106Tyr, XP_011542875.1:p.Cys85Tyr, XP_047277910.1:p.Cys85Tyr, XP_047277913.1:p.Cys106Tyr, XP_011542876.1:p.Cys82Tyr, XP_047277911.1:p.Cys106Tyr, XP_047277912.1:p.Cys85Tyr, XP_047277914.1:p.Cys85Tyr

                                    18.

                                    rs1470109807 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,T [Show Flanks]
                                      Chromosome:
                                      8:28780913 (GRCh38)
                                      8:28638430 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:28780912:A:C,NC_000008.11:28780912:A:T
                                      Gene:
                                      INTS9 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000043/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000008.11:g.28780913A>C, NC_000008.11:g.28780913A>T, NC_000008.10:g.28638430A>C, NC_000008.10:g.28638430A>T, NG_016981.2:g.114269T>G, NG_016981.2:g.114269T>A, NM_018250.4:c.1180T>G, NM_018250.4:c.1180T>A, NM_018250.3:c.1180T>G, NM_018250.3:c.1180T>A, NM_001145159.3:c.1117T>G, NM_001145159.3:c.1117T>A, NM_001145159.2:c.1117T>G, NM_001145159.2:c.1117T>A, NR_026826.3:n.1076T>G, NR_026826.3:n.1076T>A, NR_026826.2:n.1288T>G, NR_026826.2:n.1288T>A, NM_001363038.2:c.1180T>G, NM_001363038.2:c.1180T>A, NM_001363038.1:c.1180T>G, NM_001363038.1:c.1180T>A, NM_001172562.2:c.1108T>G, NM_001172562.2:c.1108T>A, NM_001172562.1:c.1108T>G, NM_001172562.1:c.1108T>A, XM_006716357.5:c.1180T>G, XM_006716357.5:c.1180T>A, XM_006716357.4:c.1180T>G, XM_006716357.4:c.1180T>A, XM_006716357.3:c.1180T>G, XM_006716357.3:c.1180T>A, XM_006716357.2:c.1180T>G, XM_006716357.2:c.1180T>A, XM_006716357.1:c.1180T>G, XM_006716357.1:c.1180T>A, XM_011544575.3:c.1108T>G, XM_011544575.3:c.1108T>A, XM_011544575.2:c.1108T>G, XM_011544575.2:c.1108T>A, XM_011544575.1:c.1108T>G, XM_011544575.1:c.1108T>A, XM_011544576.3:c.1045T>G, XM_011544576.3:c.1045T>A, XM_011544576.2:c.1045T>G, XM_011544576.2:c.1045T>A, XM_011544576.1:c.1045T>G, XM_011544576.1:c.1045T>A, XM_011544573.2:c.1117T>G, XM_011544573.2:c.1117T>A, XM_011544573.1:c.1117T>G, XM_011544573.1:c.1117T>A, XM_047421954.1:c.1117T>G, XM_047421954.1:c.1117T>A, XM_047421957.1:c.1045T>G, XM_047421957.1:c.1045T>A, XM_011544574.1:c.1108T>G, XM_011544574.1:c.1108T>A, XM_047421955.1:c.1045T>G, XM_047421955.1:c.1045T>A, XM_047421956.1:c.982T>G, XM_047421956.1:c.982T>A, XM_047421958.1:c.982T>G, XM_047421958.1:c.982T>A, NP_060720.2:p.Phe394Val, NP_060720.2:p.Phe394Ile, NP_001138631.1:p.Phe373Val, NP_001138631.1:p.Phe373Ile, NP_001349967.1:p.Phe394Val, NP_001349967.1:p.Phe394Ile, NP_001166033.1:p.Phe370Val, NP_001166033.1:p.Phe370Ile, XP_006716420.1:p.Phe394Val, XP_006716420.1:p.Phe394Ile, XP_011542877.1:p.Phe370Val, XP_011542877.1:p.Phe370Ile, XP_011542878.1:p.Phe349Val, XP_011542878.1:p.Phe349Ile, XP_011542875.1:p.Phe373Val, XP_011542875.1:p.Phe373Ile, XP_047277910.1:p.Phe373Val, XP_047277910.1:p.Phe373Ile, XP_047277913.1:p.Phe349Val, XP_047277913.1:p.Phe349Ile, XP_011542876.1:p.Phe370Val, XP_011542876.1:p.Phe370Ile, XP_047277911.1:p.Phe349Val, XP_047277911.1:p.Phe349Ile, XP_047277912.1:p.Phe328Val, XP_047277912.1:p.Phe328Ile, XP_047277914.1:p.Phe328Val, XP_047277914.1:p.Phe328Ile

                                      19.

                                      rs1468612348 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:28837707 (GRCh38)
                                        8:28695224 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:28837706:G:A
                                        Gene:
                                        INTS9 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.28837707G>A, NC_000008.10:g.28695224G>A, NG_016981.2:g.57475C>T, NM_018250.4:c.331C>T, NM_018250.3:c.331C>T, NM_001145159.3:c.268C>T, NM_001145159.2:c.268C>T, NR_026826.3:n.227C>T, NR_026826.2:n.439C>T, NM_001363038.2:c.331C>T, NM_001363038.1:c.331C>T, NM_001172562.2:c.259C>T, NM_001172562.1:c.259C>T, XM_006716357.5:c.331C>T, XM_006716357.4:c.331C>T, XM_006716357.3:c.331C>T, XM_006716357.2:c.331C>T, XM_006716357.1:c.331C>T, XM_011544575.3:c.259C>T, XM_011544575.2:c.259C>T, XM_011544575.1:c.259C>T, XM_011544576.3:c.331C>T, XM_011544576.2:c.331C>T, XM_011544576.1:c.331C>T, XM_011544573.2:c.268C>T, XM_011544573.1:c.268C>T, XM_047421954.1:c.268C>T, XM_047421957.1:c.331C>T, XM_011544574.1:c.259C>T, XM_047421955.1:c.331C>T, XM_047421956.1:c.268C>T, XM_047421958.1:c.268C>T, NP_060720.2:p.Pro111Ser, NP_001138631.1:p.Pro90Ser, NP_001349967.1:p.Pro111Ser, NP_001166033.1:p.Pro87Ser, XP_006716420.1:p.Pro111Ser, XP_011542877.1:p.Pro87Ser, XP_011542878.1:p.Pro111Ser, XP_011542875.1:p.Pro90Ser, XP_047277910.1:p.Pro90Ser, XP_047277913.1:p.Pro111Ser, XP_011542876.1:p.Pro87Ser, XP_047277911.1:p.Pro111Ser, XP_047277912.1:p.Pro90Ser, XP_047277914.1:p.Pro90Ser

                                        20.

                                        rs1467403448 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:28813533 (GRCh38)
                                          8:28671050 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:28813532:C:T
                                          Gene:
                                          INTS9 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.28813533C>T, NC_000008.10:g.28671050C>T, NG_016981.2:g.81649G>A, NM_018250.4:c.568G>A, NM_018250.3:c.568G>A, NM_001145159.3:c.505G>A, NM_001145159.2:c.505G>A, NR_026826.3:n.464G>A, NR_026826.2:n.676G>A, NM_001363038.2:c.568G>A, NM_001363038.1:c.568G>A, NM_001172562.2:c.496G>A, NM_001172562.1:c.496G>A, XM_006716357.5:c.568G>A, XM_006716357.4:c.568G>A, XM_006716357.3:c.568G>A, XM_006716357.2:c.568G>A, XM_006716357.1:c.568G>A, XM_011544575.3:c.496G>A, XM_011544575.2:c.496G>A, XM_011544575.1:c.496G>A, XM_011544576.3:c.568G>A, XM_011544576.2:c.568G>A, XM_011544576.1:c.568G>A, XM_011544573.2:c.505G>A, XM_011544573.1:c.505G>A, XM_047421954.1:c.505G>A, XM_047421957.1:c.568G>A, XM_011544574.1:c.496G>A, XM_047421955.1:c.568G>A, XM_047421956.1:c.505G>A, XM_047421958.1:c.505G>A, NP_060720.2:p.Ala190Thr, NP_001138631.1:p.Ala169Thr, NP_001349967.1:p.Ala190Thr, NP_001166033.1:p.Ala166Thr, XP_006716420.1:p.Ala190Thr, XP_011542877.1:p.Ala166Thr, XP_011542878.1:p.Ala190Thr, XP_011542875.1:p.Ala169Thr, XP_047277910.1:p.Ala169Thr, XP_047277913.1:p.Ala190Thr, XP_011542876.1:p.Ala166Thr, XP_047277911.1:p.Ala190Thr, XP_047277912.1:p.Ala169Thr, XP_047277914.1:p.Ala169Thr

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