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Items: 1 to 20 of 650

1.

rs1489761293 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    8:19817567 (GRCh38)
    8:19675078 (GRCh37)
    Canonical SPDI:
    NC_000008.11:19817566:G:C
    Gene:
    INTS10 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000111/1 (ALFA)
    C=0.000009/2 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.19817567G>C, NC_000008.10:g.19675078G>C, NM_018142.4:c.30G>C, NM_018142.3:c.30G>C, NM_018142.2:c.30G>C, NR_148458.2:n.152G>C, NR_148458.1:n.419G>C, NM_001353513.2:c.-441G>C, NM_001353513.1:c.-441G>C, NM_001353514.2:c.-441G>C, NM_001353514.1:c.-441G>C, NM_001353511.2:c.-187G>C, NM_001353511.1:c.-187G>C, NM_001353515.2:c.-441G>C, NM_001353515.1:c.-441G>C, NR_148456.2:n.152G>C, NR_148456.1:n.419G>C, NR_148453.2:n.152G>C, NR_148453.1:n.419G>C, NM_001353512.2:c.-187G>C, NM_001353512.1:c.-187G>C, NM_001353505.2:c.30G>C, NM_001353505.1:c.30G>C, NM_001353507.2:c.30G>C, NM_001353507.1:c.30G>C, NM_001353506.2:c.30G>C, NM_001353506.1:c.30G>C, NM_001353508.2:c.30G>C, NM_001353508.1:c.30G>C, NM_001353517.2:c.-649G>C, NM_001353517.1:c.-649G>C, NR_148454.2:n.152G>C, NR_148454.1:n.419G>C, NR_148457.2:n.152G>C, NR_148457.1:n.419G>C, NR_148452.2:n.152G>C, NR_148452.1:n.419G>C, NM_001353519.2:c.-599G>C, NM_001353519.1:c.-599G>C, NM_001353509.2:c.30G>C, NM_001353509.1:c.30G>C, NM_001353510.2:c.30G>C, NM_001353510.1:c.30G>C, NM_001353521.2:c.-649G>C, NM_001353521.1:c.-649G>C, NM_001353516.2:c.-518G>C, NM_001353516.1:c.-518G>C, NM_001353518.2:c.-518G>C, NM_001353518.1:c.-518G>C, NM_001353520.2:c.-518G>C, NM_001353520.1:c.-518G>C, NM_001353522.2:c.-518G>C, NM_001353522.1:c.-518G>C, NR_148455.2:n.152G>C, NR_148455.1:n.419G>C, NR_148451.2:n.152G>C, NR_148451.1:n.419G>C, XM_017013607.2:c.30G>C, XM_017013607.1:c.30G>C, XR_007060743.1:n.152G>C, XM_047421928.1:c.30G>C, XM_047421931.1:c.30G>C, XM_047421929.1:c.30G>C, XM_047421930.1:c.30G>C

    2.

    rs1488656631 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      8:19833214 (GRCh38)
      8:19690725 (GRCh37)
      Canonical SPDI:
      NC_000008.11:19833213:C:G,NC_000008.11:19833213:C:T
      Gene:
      INTS10 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      T=0.00018/3 (TOMMO)
      HGVS:
      NC_000008.11:g.19833214C>G, NC_000008.11:g.19833214C>T, NC_000008.10:g.19690725C>G, NC_000008.10:g.19690725C>T, NM_018142.4:c.1423C>G, NM_018142.4:c.1423C>T, NM_018142.3:c.1423C>G, NM_018142.3:c.1423C>T, NM_018142.2:c.1423C>G, NM_018142.2:c.1423C>T, NR_148458.2:n.1545C>G, NR_148458.2:n.1545C>T, NR_148458.1:n.1812C>G, NR_148458.1:n.1812C>T, NM_001353513.2:c.1087C>G, NM_001353513.2:c.1087C>T, NM_001353513.1:c.1087C>G, NM_001353513.1:c.1087C>T, NM_001353514.2:c.1084C>G, NM_001353514.2:c.1084C>T, NM_001353514.1:c.1084C>G, NM_001353514.1:c.1084C>T, NM_001353511.2:c.1288C>G, NM_001353511.2:c.1288C>T, NM_001353511.1:c.1288C>G, NM_001353511.1:c.1288C>T, NM_001353515.2:c.1084C>G, NM_001353515.2:c.1084C>T, NM_001353515.1:c.1084C>G, NM_001353515.1:c.1084C>T, NR_148456.2:n.1545C>G, NR_148456.2:n.1545C>T, NR_148456.1:n.1812C>G, NR_148456.1:n.1812C>T, NR_148453.2:n.1405C>G, NR_148453.2:n.1405C>T, NR_148453.1:n.1672C>G, NR_148453.1:n.1672C>T, NM_001353512.2:c.1288C>G, NM_001353512.2:c.1288C>T, NM_001353512.1:c.1288C>G, NM_001353512.1:c.1288C>T, NM_001353505.2:c.1426C>G, NM_001353505.2:c.1426C>T, NM_001353505.1:c.1426C>G, NM_001353505.1:c.1426C>T, NM_001353507.2:c.1423C>G, NM_001353507.2:c.1423C>T, NM_001353507.1:c.1423C>G, NM_001353507.1:c.1423C>T, NM_001353506.2:c.1423C>G, NM_001353506.2:c.1423C>T, NM_001353506.1:c.1423C>G, NM_001353506.1:c.1423C>T, NM_001353508.2:c.1420C>G, NM_001353508.2:c.1420C>T, NM_001353508.1:c.1420C>G, NM_001353508.1:c.1420C>T, NM_001353517.2:c.736C>G, NM_001353517.2:c.736C>T, NM_001353517.1:c.736C>G, NM_001353517.1:c.736C>T, NR_148454.2:n.1405C>G, NR_148454.2:n.1405C>T, NR_148454.1:n.1672C>G, NR_148454.1:n.1672C>T, NR_148457.2:n.1375C>G, NR_148457.2:n.1375C>T, NR_148457.1:n.1642C>G, NR_148457.1:n.1642C>T, NR_148452.2:n.1506C>G, NR_148452.2:n.1506C>T, NR_148452.1:n.1773C>G, NR_148452.1:n.1773C>T, NM_001353519.2:c.736C>G, NM_001353519.2:c.736C>T, NM_001353519.1:c.736C>G, NM_001353519.1:c.736C>T, NM_001353509.2:c.1360C>G, NM_001353509.2:c.1360C>T, NM_001353509.1:c.1360C>G, NM_001353509.1:c.1360C>T, NM_001353510.2:c.1426C>G, NM_001353510.2:c.1426C>T, NM_001353510.1:c.1426C>G, NM_001353510.1:c.1426C>T, NM_001353521.2:c.736C>G, NM_001353521.2:c.736C>T, NM_001353521.1:c.736C>G, NM_001353521.1:c.736C>T, NM_001353516.2:c.739C>G, NM_001353516.2:c.739C>T, NM_001353516.1:c.739C>G, NM_001353516.1:c.739C>T, NM_001353518.2:c.736C>G, NM_001353518.2:c.736C>T, NM_001353518.1:c.736C>G, NM_001353518.1:c.736C>T, NM_001353520.2:c.673C>G, NM_001353520.2:c.673C>T, NM_001353520.1:c.673C>G, NM_001353520.1:c.673C>T, NM_001353522.2:c.736C>G, NM_001353522.2:c.736C>T, NM_001353522.1:c.736C>G, NM_001353522.1:c.736C>T, NR_148455.2:n.1375C>G, NR_148455.2:n.1375C>T, NR_148455.1:n.1642C>G, NR_148455.1:n.1642C>T, NR_148451.2:n.1235C>G, NR_148451.2:n.1235C>T, NR_148451.1:n.1502C>G, NR_148451.1:n.1502C>T, XM_017013607.2:c.1426C>G, XM_017013607.2:c.1426C>T, XM_017013607.1:c.1426C>G, XM_017013607.1:c.1426C>T, XR_007060743.1:n.1545C>G, XR_007060743.1:n.1545C>T, XM_047421928.1:c.1426C>G, XM_047421928.1:c.1426C>T, XM_047421931.1:c.1423C>G, XM_047421931.1:c.1423C>T, XM_047421929.1:c.1426C>G, XM_047421929.1:c.1426C>T, XM_047421930.1:c.1423C>G, XM_047421930.1:c.1423C>T, NP_060612.2:p.Leu475Val, NP_060612.2:p.Leu475Phe, NP_001340442.1:p.Leu363Val, NP_001340442.1:p.Leu363Phe, NP_001340443.1:p.Leu362Val, NP_001340443.1:p.Leu362Phe, NP_001340440.1:p.Leu430Val, NP_001340440.1:p.Leu430Phe, NP_001340444.1:p.Leu362Val, NP_001340444.1:p.Leu362Phe, NP_001340441.1:p.Leu430Val, NP_001340441.1:p.Leu430Phe, NP_001340434.1:p.Leu476Val, NP_001340434.1:p.Leu476Phe, NP_001340436.1:p.Leu475Val, NP_001340436.1:p.Leu475Phe, NP_001340435.1:p.Leu475Val, NP_001340435.1:p.Leu475Phe, NP_001340437.1:p.Leu474Val, NP_001340437.1:p.Leu474Phe, NP_001340446.1:p.Leu246Val, NP_001340446.1:p.Leu246Phe, NP_001340448.1:p.Leu246Val, NP_001340448.1:p.Leu246Phe, NP_001340438.1:p.Leu454Val, NP_001340438.1:p.Leu454Phe, NP_001340439.1:p.Leu476Val, NP_001340439.1:p.Leu476Phe, NP_001340450.1:p.Leu246Val, NP_001340450.1:p.Leu246Phe, NP_001340445.1:p.Leu247Val, NP_001340445.1:p.Leu247Phe, NP_001340447.1:p.Leu246Val, NP_001340447.1:p.Leu246Phe, NP_001340449.1:p.Leu225Val, NP_001340449.1:p.Leu225Phe, NP_001340451.1:p.Leu246Val, NP_001340451.1:p.Leu246Phe, XP_016869096.1:p.Leu476Val, XP_016869096.1:p.Leu476Phe, XP_047277884.1:p.Leu476Val, XP_047277884.1:p.Leu476Phe, XP_047277887.1:p.Leu475Val, XP_047277887.1:p.Leu475Phe, XP_047277885.1:p.Leu476Val, XP_047277885.1:p.Leu476Phe, XP_047277886.1:p.Leu475Val, XP_047277886.1:p.Leu475Phe

      3.

      rs1484583970 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        8:19826535 (GRCh38)
        8:19684046 (GRCh37)
        Canonical SPDI:
        NC_000008.11:19826534:A:C,NC_000008.11:19826534:A:G
        Gene:
        INTS10 (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000028/1 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000008.11:g.19826535A>C, NC_000008.11:g.19826535A>G, NC_000008.10:g.19684046A>C, NC_000008.10:g.19684046A>G, NM_018142.4:c.1116A>C, NM_018142.4:c.1116A>G, NM_018142.3:c.1116A>C, NM_018142.3:c.1116A>G, NM_018142.2:c.1116A>C, NM_018142.2:c.1116A>G, NR_148458.2:n.1238A>C, NR_148458.2:n.1238A>G, NR_148458.1:n.1505A>C, NR_148458.1:n.1505A>G, NM_001353513.2:c.777A>C, NM_001353513.2:c.777A>G, NM_001353513.1:c.777A>C, NM_001353513.1:c.777A>G, NM_001353514.2:c.777A>C, NM_001353514.2:c.777A>G, NM_001353514.1:c.777A>C, NM_001353514.1:c.777A>G, NM_001353511.2:c.981A>C, NM_001353511.2:c.981A>G, NM_001353511.1:c.981A>C, NM_001353511.1:c.981A>G, NM_001353515.2:c.777A>C, NM_001353515.2:c.777A>G, NM_001353515.1:c.777A>C, NM_001353515.1:c.777A>G, NR_148456.2:n.1238A>C, NR_148456.2:n.1238A>G, NR_148456.1:n.1505A>C, NR_148456.1:n.1505A>G, NR_148453.2:n.1098A>C, NR_148453.2:n.1098A>G, NR_148453.1:n.1365A>C, NR_148453.1:n.1365A>G, NM_001353512.2:c.981A>C, NM_001353512.2:c.981A>G, NM_001353512.1:c.981A>C, NM_001353512.1:c.981A>G, NM_001353505.2:c.1116A>C, NM_001353505.2:c.1116A>G, NM_001353505.1:c.1116A>C, NM_001353505.1:c.1116A>G, NM_001353507.2:c.1113A>C, NM_001353507.2:c.1113A>G, NM_001353507.1:c.1113A>C, NM_001353507.1:c.1113A>G, NM_001353506.2:c.1116A>C, NM_001353506.2:c.1116A>G, NM_001353506.1:c.1116A>C, NM_001353506.1:c.1116A>G, NM_001353508.2:c.1113A>C, NM_001353508.2:c.1113A>G, NM_001353508.1:c.1113A>C, NM_001353508.1:c.1113A>G, NM_001353517.2:c.429A>C, NM_001353517.2:c.429A>G, NM_001353517.1:c.429A>C, NM_001353517.1:c.429A>G, NR_148454.2:n.1098A>C, NR_148454.2:n.1098A>G, NR_148454.1:n.1365A>C, NR_148454.1:n.1365A>G, NR_148457.2:n.1068A>C, NR_148457.2:n.1068A>G, NR_148457.1:n.1335A>C, NR_148457.1:n.1335A>G, NR_148452.2:n.1199A>C, NR_148452.2:n.1199A>G, NR_148452.1:n.1466A>C, NR_148452.1:n.1466A>G, NM_001353519.2:c.429A>C, NM_001353519.2:c.429A>G, NM_001353519.1:c.429A>C, NM_001353519.1:c.429A>G, NM_001353509.2:c.1053A>C, NM_001353509.2:c.1053A>G, NM_001353509.1:c.1053A>C, NM_001353509.1:c.1053A>G, NM_001353510.2:c.1116A>C, NM_001353510.2:c.1116A>G, NM_001353510.1:c.1116A>C, NM_001353510.1:c.1116A>G, NM_001353521.2:c.429A>C, NM_001353521.2:c.429A>G, NM_001353521.1:c.429A>C, NM_001353521.1:c.429A>G, NM_001353516.2:c.429A>C, NM_001353516.2:c.429A>G, NM_001353516.1:c.429A>C, NM_001353516.1:c.429A>G, NM_001353518.2:c.429A>C, NM_001353518.2:c.429A>G, NM_001353518.1:c.429A>C, NM_001353518.1:c.429A>G, NM_001353520.2:c.366A>C, NM_001353520.2:c.366A>G, NM_001353520.1:c.366A>C, NM_001353520.1:c.366A>G, NM_001353522.2:c.429A>C, NM_001353522.2:c.429A>G, NM_001353522.1:c.429A>C, NM_001353522.1:c.429A>G, NR_148455.2:n.1068A>C, NR_148455.2:n.1068A>G, NR_148455.1:n.1335A>C, NR_148455.1:n.1335A>G, NR_148451.2:n.928A>C, NR_148451.2:n.928A>G, NR_148451.1:n.1195A>C, NR_148451.1:n.1195A>G, XM_017013607.2:c.1116A>C, XM_017013607.2:c.1116A>G, XM_017013607.1:c.1116A>C, XM_017013607.1:c.1116A>G, XR_007060743.1:n.1238A>C, XR_007060743.1:n.1238A>G, XM_047421928.1:c.1116A>C, XM_047421928.1:c.1116A>G, XM_047421931.1:c.1116A>C, XM_047421931.1:c.1116A>G, XM_047421929.1:c.1116A>C, XM_047421929.1:c.1116A>G, XM_047421930.1:c.1116A>C, XM_047421930.1:c.1116A>G

        4.

        rs1483514279 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:19823328 (GRCh38)
          8:19680839 (GRCh37)
          Canonical SPDI:
          NC_000008.11:19823327:A:G
          Gene:
          INTS10 (Varview)
          Functional Consequence:
          missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          NC_000008.11:g.19823328A>G, NC_000008.10:g.19680839A>G, NM_018142.4:c.551A>G, NM_018142.3:c.551A>G, NM_018142.2:c.551A>G, NR_148458.2:n.673A>G, NR_148458.1:n.940A>G, NM_001353513.2:c.212A>G, NM_001353513.1:c.212A>G, NM_001353514.2:c.212A>G, NM_001353514.1:c.212A>G, NM_001353511.2:c.416A>G, NM_001353511.1:c.416A>G, NM_001353515.2:c.212A>G, NM_001353515.1:c.212A>G, NR_148456.2:n.673A>G, NR_148456.1:n.940A>G, NR_148453.2:n.533A>G, NR_148453.1:n.800A>G, NM_001353512.2:c.416A>G, NM_001353512.1:c.416A>G, NM_001353505.2:c.551A>G, NM_001353505.1:c.551A>G, NM_001353507.2:c.551A>G, NM_001353507.1:c.551A>G, NM_001353506.2:c.551A>G, NM_001353506.1:c.551A>G, NM_001353508.2:c.551A>G, NM_001353508.1:c.551A>G, NM_001353517.2:c.-137A>G, NM_001353517.1:c.-137A>G, NR_148454.2:n.533A>G, NR_148454.1:n.800A>G, NR_148457.2:n.673A>G, NR_148457.1:n.940A>G, NR_148452.2:n.804A>G, NR_148452.1:n.1071A>G, NM_001353519.2:c.-137A>G, NM_001353519.1:c.-137A>G, NM_001353509.2:c.551A>G, NM_001353509.1:c.551A>G, NM_001353510.2:c.551A>G, NM_001353510.1:c.551A>G, NM_001353521.2:c.-137A>G, NM_001353521.1:c.-137A>G, NM_001353516.2:c.-137A>G, NM_001353516.1:c.-137A>G, NM_001353518.2:c.-137A>G, NM_001353518.1:c.-137A>G, NM_001353520.2:c.-137A>G, NM_001353520.1:c.-137A>G, NM_001353522.2:c.-137A>G, NM_001353522.1:c.-137A>G, NR_148455.2:n.673A>G, NR_148455.1:n.940A>G, NR_148451.2:n.533A>G, NR_148451.1:n.800A>G, XM_017013607.2:c.551A>G, XM_017013607.1:c.551A>G, XR_007060743.1:n.673A>G, XM_047421928.1:c.551A>G, XM_047421931.1:c.551A>G, XM_047421929.1:c.551A>G, XM_047421930.1:c.551A>G, NP_060612.2:p.Asn184Ser, NP_001340442.1:p.Asn71Ser, NP_001340443.1:p.Asn71Ser, NP_001340440.1:p.Asn139Ser, NP_001340444.1:p.Asn71Ser, NP_001340441.1:p.Asn139Ser, NP_001340434.1:p.Asn184Ser, NP_001340436.1:p.Asn184Ser, NP_001340435.1:p.Asn184Ser, NP_001340437.1:p.Asn184Ser, NP_001340438.1:p.Asn184Ser, NP_001340439.1:p.Asn184Ser, XP_016869096.1:p.Asn184Ser, XP_047277884.1:p.Asn184Ser, XP_047277887.1:p.Asn184Ser, XP_047277885.1:p.Asn184Ser, XP_047277886.1:p.Asn184Ser

          5.

          rs1481055465 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:19849214 (GRCh38)
            8:19706725 (GRCh37)
            Canonical SPDI:
            NC_000008.11:19849213:C:T
            Gene:
            INTS10 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
            HGVS:
            NC_000008.11:g.19849214C>T, NC_000008.10:g.19706725C>T, NR_148458.2:n.2293C>T, NR_148458.1:n.2560C>T, NM_001353513.2:c.1693C>T, NM_001353513.1:c.1693C>T, NM_001353514.2:c.1690C>T, NM_001353514.1:c.1690C>T, NM_001353511.2:c.1894C>T, NM_001353511.1:c.1894C>T, NM_001353505.2:c.2032C>T, NM_001353505.1:c.2032C>T, NM_001353507.2:c.2029C>T, NM_001353507.1:c.2029C>T, NM_001353506.2:c.2029C>T, NM_001353506.1:c.2029C>T, NM_001353508.2:c.2026C>T, NM_001353508.1:c.2026C>T, NM_001353517.2:c.1342C>T, NM_001353517.1:c.1342C>T, NR_148454.2:n.2133C>T, NR_148454.1:n.2400C>T, NR_148457.2:n.2123C>T, NR_148457.1:n.2390C>T, NR_148452.2:n.2112C>T, NR_148452.1:n.2379C>T, NM_001353519.2:c.1342C>T, NM_001353519.1:c.1342C>T, NM_001353509.2:c.1966C>T, NM_001353509.1:c.1966C>T, NM_001353516.2:c.1345C>T, NM_001353516.1:c.1345C>T, NM_001353518.2:c.1342C>T, NM_001353518.1:c.1342C>T, NM_001353520.2:c.1279C>T, NM_001353520.1:c.1279C>T, NR_148451.2:n.1841C>T, NR_148451.1:n.2108C>T, NP_001340442.1:p.Gln565Ter, NP_001340443.1:p.Gln564Ter, NP_001340440.1:p.Gln632Ter, NP_001340434.1:p.Gln678Ter, NP_001340436.1:p.Gln677Ter, NP_001340435.1:p.Gln677Ter, NP_001340437.1:p.Gln676Ter, NP_001340446.1:p.Gln448Ter, NP_001340448.1:p.Gln448Ter, NP_001340438.1:p.Gln656Ter, NP_001340445.1:p.Gln449Ter, NP_001340447.1:p.Gln448Ter, NP_001340449.1:p.Gln427Ter

            6.

            rs1480254865 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:19824890 (GRCh38)
              8:19682401 (GRCh37)
              Canonical SPDI:
              NC_000008.11:19824889:C:T
              Gene:
              INTS10 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.19824890C>T, NC_000008.10:g.19682401C>T, NM_018142.4:c.924C>T, NM_018142.3:c.924C>T, NM_018142.2:c.924C>T, NR_148458.2:n.1046C>T, NR_148458.1:n.1313C>T, NM_001353513.2:c.585C>T, NM_001353513.1:c.585C>T, NM_001353514.2:c.585C>T, NM_001353514.1:c.585C>T, NM_001353511.2:c.789C>T, NM_001353511.1:c.789C>T, NM_001353515.2:c.585C>T, NM_001353515.1:c.585C>T, NR_148456.2:n.1046C>T, NR_148456.1:n.1313C>T, NR_148453.2:n.906C>T, NR_148453.1:n.1173C>T, NM_001353512.2:c.789C>T, NM_001353512.1:c.789C>T, NM_001353505.2:c.924C>T, NM_001353505.1:c.924C>T, NM_001353507.2:c.921C>T, NM_001353507.1:c.921C>T, NM_001353506.2:c.924C>T, NM_001353506.1:c.924C>T, NM_001353508.2:c.921C>T, NM_001353508.1:c.921C>T, NM_001353517.2:c.237C>T, NM_001353517.1:c.237C>T, NR_148454.2:n.906C>T, NR_148454.1:n.1173C>T, NM_001353519.2:c.237C>T, NM_001353519.1:c.237C>T, NM_001353509.2:c.861C>T, NM_001353509.1:c.861C>T, NM_001353510.2:c.924C>T, NM_001353510.1:c.924C>T, NM_001353521.2:c.237C>T, NM_001353521.1:c.237C>T, NM_001353516.2:c.237C>T, NM_001353516.1:c.237C>T, NM_001353518.2:c.237C>T, NM_001353518.1:c.237C>T, NM_001353520.2:c.174C>T, NM_001353520.1:c.174C>T, NM_001353522.2:c.237C>T, NM_001353522.1:c.237C>T, XM_017013607.2:c.924C>T, XM_017013607.1:c.924C>T, XR_007060743.1:n.1046C>T, XM_047421928.1:c.924C>T, XM_047421931.1:c.924C>T, XM_047421929.1:c.924C>T, XM_047421930.1:c.924C>T

              7.

              rs1479240852 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                8:19851796 (GRCh38)
                8:19709307 (GRCh37)
                Canonical SPDI:
                NC_000008.11:19851795:T:C
                Gene:
                INTS10 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000008.11:g.19851796T>C, NC_000008.10:g.19709307T>C, NM_018142.4:c.2124T>C, NM_018142.3:c.2124T>C, NM_018142.2:c.2124T>C, NR_148458.2:n.2466T>C, NR_148458.1:n.2733T>C, NM_001353513.2:c.1866T>C, NM_001353513.1:c.1866T>C, NM_001353514.2:c.1863T>C, NM_001353514.1:c.1863T>C, NM_001353511.2:c.2067T>C, NM_001353511.1:c.2067T>C, NM_001353515.2:c.1785T>C, NM_001353515.1:c.1785T>C, NR_148456.2:n.2375T>C, NR_148456.1:n.2642T>C, NR_148453.2:n.2353T>C, NR_148453.1:n.2620T>C, NM_001353512.2:c.1989T>C, NM_001353512.1:c.1989T>C, NM_001353505.2:c.2205T>C, NM_001353505.1:c.2205T>C, NM_001353507.2:c.2202T>C, NM_001353507.1:c.2202T>C, NM_001353506.2:c.2202T>C, NM_001353506.1:c.2202T>C, NM_001353508.2:c.2199T>C, NM_001353508.1:c.2199T>C, NM_001353517.2:c.1515T>C, NM_001353517.1:c.1515T>C, NR_148454.2:n.2306T>C, NR_148454.1:n.2573T>C, NR_148457.2:n.2296T>C, NR_148457.1:n.2563T>C, NR_148452.2:n.2285T>C, NR_148452.1:n.2552T>C, NM_001353519.2:c.1515T>C, NM_001353519.1:c.1515T>C, NM_001353509.2:c.2139T>C, NM_001353509.1:c.2139T>C, NM_001353510.2:c.2127T>C, NM_001353510.1:c.2127T>C, NM_001353521.2:c.1437T>C, NM_001353521.1:c.1437T>C, NM_001353516.2:c.1518T>C, NM_001353516.1:c.1518T>C, NM_001353518.2:c.1515T>C, NM_001353518.1:c.1515T>C, NM_001353520.2:c.1452T>C, NM_001353520.1:c.1452T>C, NM_001353522.2:c.1437T>C, NM_001353522.1:c.1437T>C, NR_148455.2:n.2076T>C, NR_148455.1:n.2343T>C, NR_148451.2:n.2014T>C, NR_148451.1:n.2281T>C, XM_047421928.1:c.*175T>C

                8.

                rs1478892480 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  8:19833312 (GRCh38)
                  8:19690823 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:19833311:G:C
                  Gene:
                  INTS10 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000008.11:g.19833312G>C, NC_000008.10:g.19690823G>C, NM_018142.4:c.1521G>C, NM_018142.3:c.1521G>C, NM_018142.2:c.1521G>C, NR_148458.2:n.1643G>C, NR_148458.1:n.1910G>C, NM_001353513.2:c.1185G>C, NM_001353513.1:c.1185G>C, NM_001353514.2:c.1182G>C, NM_001353514.1:c.1182G>C, NM_001353511.2:c.1386G>C, NM_001353511.1:c.1386G>C, NM_001353515.2:c.1182G>C, NM_001353515.1:c.1182G>C, NR_148456.2:n.1643G>C, NR_148456.1:n.1910G>C, NR_148453.2:n.1503G>C, NR_148453.1:n.1770G>C, NM_001353512.2:c.1386G>C, NM_001353512.1:c.1386G>C, NM_001353505.2:c.1524G>C, NM_001353505.1:c.1524G>C, NM_001353507.2:c.1521G>C, NM_001353507.1:c.1521G>C, NM_001353506.2:c.1521G>C, NM_001353506.1:c.1521G>C, NM_001353508.2:c.1518G>C, NM_001353508.1:c.1518G>C, NM_001353517.2:c.834G>C, NM_001353517.1:c.834G>C, NR_148454.2:n.1503G>C, NR_148454.1:n.1770G>C, NR_148457.2:n.1473G>C, NR_148457.1:n.1740G>C, NR_148452.2:n.1604G>C, NR_148452.1:n.1871G>C, NM_001353519.2:c.834G>C, NM_001353519.1:c.834G>C, NM_001353509.2:c.1458G>C, NM_001353509.1:c.1458G>C, NM_001353510.2:c.1524G>C, NM_001353510.1:c.1524G>C, NM_001353521.2:c.834G>C, NM_001353521.1:c.834G>C, NM_001353516.2:c.837G>C, NM_001353516.1:c.837G>C, NM_001353518.2:c.834G>C, NM_001353518.1:c.834G>C, NM_001353520.2:c.771G>C, NM_001353520.1:c.771G>C, NM_001353522.2:c.834G>C, NM_001353522.1:c.834G>C, NR_148455.2:n.1473G>C, NR_148455.1:n.1740G>C, NR_148451.2:n.1333G>C, NR_148451.1:n.1600G>C, XM_017013607.2:c.1524G>C, XM_017013607.1:c.1524G>C, XR_007060743.1:n.1643G>C, XM_047421928.1:c.1524G>C, XM_047421931.1:c.1521G>C, XM_047421929.1:c.1524G>C, XM_047421930.1:c.1521G>C

                  9.

                  rs1477962699 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:19842878 (GRCh38)
                    8:19700389 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:19842877:G:A
                    Gene:
                    INTS10 (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.19842878G>A, NC_000008.10:g.19700389G>A, NM_018142.4:c.1670G>A, NM_018142.3:c.1670G>A, NM_018142.2:c.1670G>A, NR_148458.2:n.1792G>A, NR_148458.1:n.2059G>A, NM_001353513.2:c.1334G>A, NM_001353513.1:c.1334G>A, NM_001353514.2:c.1331G>A, NM_001353514.1:c.1331G>A, NM_001353511.2:c.1535G>A, NM_001353511.1:c.1535G>A, NM_001353515.2:c.1331G>A, NM_001353515.1:c.1331G>A, NR_148456.2:n.1921G>A, NR_148456.1:n.2188G>A, NR_148453.2:n.1652G>A, NR_148453.1:n.1919G>A, NM_001353512.2:c.1535G>A, NM_001353512.1:c.1535G>A, NM_001353505.2:c.1673G>A, NM_001353505.1:c.1673G>A, NM_001353507.2:c.1670G>A, NM_001353507.1:c.1670G>A, NM_001353506.2:c.1670G>A, NM_001353506.1:c.1670G>A, NM_001353508.2:c.1667G>A, NM_001353508.1:c.1667G>A, NM_001353517.2:c.983G>A, NM_001353517.1:c.983G>A, NR_148454.2:n.1652G>A, NR_148454.1:n.1919G>A, NR_148457.2:n.1622G>A, NR_148457.1:n.1889G>A, NR_148452.2:n.1753G>A, NR_148452.1:n.2020G>A, NM_001353519.2:c.983G>A, NM_001353519.1:c.983G>A, NM_001353509.2:c.1607G>A, NM_001353509.1:c.1607G>A, NM_001353510.2:c.1673G>A, NM_001353510.1:c.1673G>A, NM_001353521.2:c.983G>A, NM_001353521.1:c.983G>A, NM_001353516.2:c.986G>A, NM_001353516.1:c.986G>A, NM_001353518.2:c.983G>A, NM_001353518.1:c.983G>A, NM_001353520.2:c.920G>A, NM_001353520.1:c.920G>A, NM_001353522.2:c.983G>A, NM_001353522.1:c.983G>A, NR_148455.2:n.1622G>A, NR_148455.1:n.1889G>A, NR_148451.2:n.1482G>A, NR_148451.1:n.1749G>A, XM_017013607.2:c.1673G>A, XM_017013607.1:c.1673G>A, XR_007060743.1:n.1792G>A, XM_047421928.1:c.1673G>A, XM_047421931.1:c.1670G>A, XM_047421929.1:c.1673G>A, XM_047421930.1:c.1670G>A, NP_060612.2:p.Ser557Asn, NP_001340442.1:p.Ser445Asn, NP_001340443.1:p.Ser444Asn, NP_001340440.1:p.Ser512Asn, NP_001340444.1:p.Ser444Asn, NP_001340441.1:p.Ser512Asn, NP_001340434.1:p.Ser558Asn, NP_001340436.1:p.Ser557Asn, NP_001340435.1:p.Ser557Asn, NP_001340437.1:p.Ser556Asn, NP_001340446.1:p.Ser328Asn, NP_001340448.1:p.Ser328Asn, NP_001340438.1:p.Ser536Asn, NP_001340439.1:p.Ser558Asn, NP_001340450.1:p.Ser328Asn, NP_001340445.1:p.Ser329Asn, NP_001340447.1:p.Ser328Asn, NP_001340449.1:p.Ser307Asn, NP_001340451.1:p.Ser328Asn, XP_016869096.1:p.Ser558Asn, XP_047277884.1:p.Ser558Asn, XP_047277887.1:p.Ser557Asn, XP_047277885.1:p.Ser558Asn, XP_047277886.1:p.Ser557Asn

                    10.

                    rs1476757580 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:19845760 (GRCh38)
                      8:19703271 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:19845759:C:T
                      Gene:
                      INTS10 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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.19845760C>T, NC_000008.10:g.19703271C>T, NM_018142.4:c.1939C>T, NM_018142.3:c.1939C>T, NM_018142.2:c.1939C>T, NR_148458.2:n.2061C>T, NR_148458.1:n.2328C>T, NM_001353513.2:c.1603C>T, NM_001353513.1:c.1603C>T, NM_001353514.2:c.1600C>T, NM_001353514.1:c.1600C>T, NM_001353511.2:c.1804C>T, NM_001353511.1:c.1804C>T, NM_001353515.2:c.1600C>T, NM_001353515.1:c.1600C>T, NR_148456.2:n.2190C>T, NR_148456.1:n.2457C>T, NR_148453.2:n.2168C>T, NR_148453.1:n.2435C>T, NM_001353512.2:c.1804C>T, NM_001353512.1:c.1804C>T, NM_001353505.2:c.1942C>T, NM_001353505.1:c.1942C>T, NM_001353507.2:c.1939C>T, NM_001353507.1:c.1939C>T, NM_001353506.2:c.1939C>T, NM_001353506.1:c.1939C>T, NM_001353508.2:c.1936C>T, NM_001353508.1:c.1936C>T, NM_001353517.2:c.1252C>T, NM_001353517.1:c.1252C>T, NR_148454.2:n.2043C>T, NR_148454.1:n.2310C>T, NR_148457.2:n.1891C>T, NR_148457.1:n.2158C>T, NR_148452.2:n.2022C>T, NR_148452.1:n.2289C>T, NM_001353519.2:c.1252C>T, NM_001353519.1:c.1252C>T, NM_001353509.2:c.1876C>T, NM_001353509.1:c.1876C>T, NM_001353510.2:c.1942C>T, NM_001353510.1:c.1942C>T, NM_001353521.2:c.1252C>T, NM_001353521.1:c.1252C>T, NM_001353516.2:c.1255C>T, NM_001353516.1:c.1255C>T, NM_001353518.2:c.1252C>T, NM_001353518.1:c.1252C>T, NM_001353520.2:c.1189C>T, NM_001353520.1:c.1189C>T, NM_001353522.2:c.1252C>T, NM_001353522.1:c.1252C>T, NR_148455.2:n.1891C>T, NR_148455.1:n.2158C>T, NR_148451.2:n.1751C>T, NR_148451.1:n.2018C>T, XM_017013607.2:c.*75C>T, XM_047421928.1:c.1942C>T, XM_047421931.1:c.*75C>T, XM_047421929.1:c.1942C>T, XM_047421930.1:c.1939C>T, NP_060612.2:p.His647Tyr, NP_001340442.1:p.His535Tyr, NP_001340443.1:p.His534Tyr, NP_001340440.1:p.His602Tyr, NP_001340444.1:p.His534Tyr, NP_001340441.1:p.His602Tyr, NP_001340434.1:p.His648Tyr, NP_001340436.1:p.His647Tyr, NP_001340435.1:p.His647Tyr, NP_001340437.1:p.His646Tyr, NP_001340446.1:p.His418Tyr, NP_001340448.1:p.His418Tyr, NP_001340438.1:p.His626Tyr, NP_001340439.1:p.His648Tyr, NP_001340450.1:p.His418Tyr, NP_001340445.1:p.His419Tyr, NP_001340447.1:p.His418Tyr, NP_001340449.1:p.His397Tyr, NP_001340451.1:p.His418Tyr, XP_047277884.1:p.His648Tyr, XP_047277885.1:p.His648Tyr, XP_047277886.1:p.His647Tyr

                      11.

                      rs1476267036 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        8:19849234 (GRCh38)
                        8:19706745 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:19849233:T:C
                        Gene:
                        INTS10 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000007/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.19849234T>C, NC_000008.10:g.19706745T>C, NR_148458.2:n.2313T>C, NR_148458.1:n.2580T>C, NM_001353513.2:c.1713T>C, NM_001353513.1:c.1713T>C, NM_001353514.2:c.1710T>C, NM_001353514.1:c.1710T>C, NM_001353511.2:c.1914T>C, NM_001353511.1:c.1914T>C, NM_001353505.2:c.2052T>C, NM_001353505.1:c.2052T>C, NM_001353507.2:c.2049T>C, NM_001353507.1:c.2049T>C, NM_001353506.2:c.2049T>C, NM_001353506.1:c.2049T>C, NM_001353508.2:c.2046T>C, NM_001353508.1:c.2046T>C, NM_001353517.2:c.1362T>C, NM_001353517.1:c.1362T>C, NR_148454.2:n.2153T>C, NR_148454.1:n.2420T>C, NR_148457.2:n.2143T>C, NR_148457.1:n.2410T>C, NR_148452.2:n.2132T>C, NR_148452.1:n.2399T>C, NM_001353519.2:c.1362T>C, NM_001353519.1:c.1362T>C, NM_001353509.2:c.1986T>C, NM_001353509.1:c.1986T>C, NM_001353516.2:c.1365T>C, NM_001353516.1:c.1365T>C, NM_001353518.2:c.1362T>C, NM_001353518.1:c.1362T>C, NM_001353520.2:c.1299T>C, NM_001353520.1:c.1299T>C, NR_148451.2:n.1861T>C, NR_148451.1:n.2128T>C

                        12.

                        rs1476100678 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:19826503 (GRCh38)
                          8:19684014 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:19826502:C:T
                          Gene:
                          INTS10 (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)
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.19826503C>T, NC_000008.10:g.19684014C>T, NM_018142.4:c.1084C>T, NM_018142.3:c.1084C>T, NM_018142.2:c.1084C>T, NR_148458.2:n.1206C>T, NR_148458.1:n.1473C>T, NM_001353513.2:c.745C>T, NM_001353513.1:c.745C>T, NM_001353514.2:c.745C>T, NM_001353514.1:c.745C>T, NM_001353511.2:c.949C>T, NM_001353511.1:c.949C>T, NM_001353515.2:c.745C>T, NM_001353515.1:c.745C>T, NR_148456.2:n.1206C>T, NR_148456.1:n.1473C>T, NR_148453.2:n.1066C>T, NR_148453.1:n.1333C>T, NM_001353512.2:c.949C>T, NM_001353512.1:c.949C>T, NM_001353505.2:c.1084C>T, NM_001353505.1:c.1084C>T, NM_001353507.2:c.1081C>T, NM_001353507.1:c.1081C>T, NM_001353506.2:c.1084C>T, NM_001353506.1:c.1084C>T, NM_001353508.2:c.1081C>T, NM_001353508.1:c.1081C>T, NM_001353517.2:c.397C>T, NM_001353517.1:c.397C>T, NR_148454.2:n.1066C>T, NR_148454.1:n.1333C>T, NR_148457.2:n.1036C>T, NR_148457.1:n.1303C>T, NR_148452.2:n.1167C>T, NR_148452.1:n.1434C>T, NM_001353519.2:c.397C>T, NM_001353519.1:c.397C>T, NM_001353509.2:c.1021C>T, NM_001353509.1:c.1021C>T, NM_001353510.2:c.1084C>T, NM_001353510.1:c.1084C>T, NM_001353521.2:c.397C>T, NM_001353521.1:c.397C>T, NM_001353516.2:c.397C>T, NM_001353516.1:c.397C>T, NM_001353518.2:c.397C>T, NM_001353518.1:c.397C>T, NM_001353520.2:c.334C>T, NM_001353520.1:c.334C>T, NM_001353522.2:c.397C>T, NM_001353522.1:c.397C>T, NR_148455.2:n.1036C>T, NR_148455.1:n.1303C>T, NR_148451.2:n.896C>T, NR_148451.1:n.1163C>T, XM_017013607.2:c.1084C>T, XM_017013607.1:c.1084C>T, XR_007060743.1:n.1206C>T, XM_047421928.1:c.1084C>T, XM_047421931.1:c.1084C>T, XM_047421929.1:c.1084C>T, XM_047421930.1:c.1084C>T, NP_060612.2:p.Arg362Cys, NP_001340442.1:p.Arg249Cys, NP_001340443.1:p.Arg249Cys, NP_001340440.1:p.Arg317Cys, NP_001340444.1:p.Arg249Cys, NP_001340441.1:p.Arg317Cys, NP_001340434.1:p.Arg362Cys, NP_001340436.1:p.Arg361Cys, NP_001340435.1:p.Arg362Cys, NP_001340437.1:p.Arg361Cys, NP_001340446.1:p.Arg133Cys, NP_001340448.1:p.Arg133Cys, NP_001340438.1:p.Arg341Cys, NP_001340439.1:p.Arg362Cys, NP_001340450.1:p.Arg133Cys, NP_001340445.1:p.Arg133Cys, NP_001340447.1:p.Arg133Cys, NP_001340449.1:p.Arg112Cys, NP_001340451.1:p.Arg133Cys, XP_016869096.1:p.Arg362Cys, XP_047277884.1:p.Arg362Cys, XP_047277887.1:p.Arg362Cys, XP_047277885.1:p.Arg362Cys, XP_047277886.1:p.Arg362Cys

                          13.

                          rs1473725212 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            8:19818308 (GRCh38)
                            8:19675819 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:19818307:C:G,NC_000008.11:19818307:C:T
                            Gene:
                            INTS10 (Varview)
                            Functional Consequence:
                            missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            T=0.000342/1 (KOREAN)
                            HGVS:
                            NC_000008.11:g.19818308C>G, NC_000008.11:g.19818308C>T, NC_000008.10:g.19675819C>G, NC_000008.10:g.19675819C>T, NM_018142.4:c.163C>G, NM_018142.4:c.163C>T, NM_018142.3:c.163C>G, NM_018142.3:c.163C>T, NM_018142.2:c.163C>G, NM_018142.2:c.163C>T, NR_148458.2:n.285C>G, NR_148458.2:n.285C>T, NR_148458.1:n.552C>G, NR_148458.1:n.552C>T, NM_001353513.2:c.-308C>G, NM_001353513.2:c.-308C>T, NM_001353513.1:c.-308C>G, NM_001353513.1:c.-308C>T, NM_001353514.2:c.-308C>G, NM_001353514.2:c.-308C>T, NM_001353514.1:c.-308C>G, NM_001353514.1:c.-308C>T, NM_001353511.2:c.28C>G, NM_001353511.2:c.28C>T, NM_001353511.1:c.28C>G, NM_001353511.1:c.28C>T, NM_001353515.2:c.-308C>G, NM_001353515.2:c.-308C>T, NM_001353515.1:c.-308C>G, NM_001353515.1:c.-308C>T, NR_148456.2:n.285C>G, NR_148456.2:n.285C>T, NR_148456.1:n.552C>G, NR_148456.1:n.552C>T, NR_148453.2:n.285C>G, NR_148453.2:n.285C>T, NR_148453.1:n.552C>G, NR_148453.1:n.552C>T, NM_001353512.2:c.28C>G, NM_001353512.2:c.28C>T, NM_001353512.1:c.28C>G, NM_001353512.1:c.28C>T, NM_001353505.2:c.163C>G, NM_001353505.2:c.163C>T, NM_001353505.1:c.163C>G, NM_001353505.1:c.163C>T, NM_001353507.2:c.163C>G, NM_001353507.2:c.163C>T, NM_001353507.1:c.163C>G, NM_001353507.1:c.163C>T, NM_001353506.2:c.163C>G, NM_001353506.2:c.163C>T, NM_001353506.1:c.163C>G, NM_001353506.1:c.163C>T, NM_001353508.2:c.163C>G, NM_001353508.2:c.163C>T, NM_001353508.1:c.163C>G, NM_001353508.1:c.163C>T, NM_001353517.2:c.-516C>G, NM_001353517.2:c.-516C>T, NM_001353517.1:c.-516C>G, NM_001353517.1:c.-516C>T, NR_148454.2:n.285C>G, NR_148454.2:n.285C>T, NR_148454.1:n.552C>G, NR_148454.1:n.552C>T, NR_148457.2:n.285C>G, NR_148457.2:n.285C>T, NR_148457.1:n.552C>G, NR_148457.1:n.552C>T, NR_148452.2:n.285C>G, NR_148452.2:n.285C>T, NR_148452.1:n.552C>G, NR_148452.1:n.552C>T, NM_001353519.2:c.-385C>G, NM_001353519.2:c.-385C>T, NM_001353519.1:c.-385C>G, NM_001353519.1:c.-385C>T, NM_001353509.2:c.163C>G, NM_001353509.2:c.163C>T, NM_001353509.1:c.163C>G, NM_001353509.1:c.163C>T, NM_001353510.2:c.163C>G, NM_001353510.2:c.163C>T, NM_001353510.1:c.163C>G, NM_001353510.1:c.163C>T, NM_001353521.2:c.-516C>G, NM_001353521.2:c.-516C>T, NM_001353521.1:c.-516C>G, NM_001353521.1:c.-516C>T, NM_001353516.2:c.-385C>G, NM_001353516.2:c.-385C>T, NM_001353516.1:c.-385C>G, NM_001353516.1:c.-385C>T, NM_001353518.2:c.-385C>G, NM_001353518.2:c.-385C>T, NM_001353518.1:c.-385C>G, NM_001353518.1:c.-385C>T, NM_001353520.2:c.-385C>G, NM_001353520.2:c.-385C>T, NM_001353520.1:c.-385C>G, NM_001353520.1:c.-385C>T, NM_001353522.2:c.-385C>G, NM_001353522.2:c.-385C>T, NM_001353522.1:c.-385C>G, NM_001353522.1:c.-385C>T, NR_148455.2:n.285C>G, NR_148455.2:n.285C>T, NR_148455.1:n.552C>G, NR_148455.1:n.552C>T, NR_148451.2:n.285C>G, NR_148451.2:n.285C>T, NR_148451.1:n.552C>G, NR_148451.1:n.552C>T, XM_017013607.2:c.163C>G, XM_017013607.2:c.163C>T, XM_017013607.1:c.163C>G, XM_017013607.1:c.163C>T, XR_007060743.1:n.285C>G, XR_007060743.1:n.285C>T, XM_047421928.1:c.163C>G, XM_047421928.1:c.163C>T, XM_047421931.1:c.163C>G, XM_047421931.1:c.163C>T, XM_047421929.1:c.163C>G, XM_047421929.1:c.163C>T, XM_047421930.1:c.163C>G, XM_047421930.1:c.163C>T, NP_060612.2:p.Arg55Gly, NP_060612.2:p.Arg55Trp, NP_001340440.1:p.Arg10Gly, NP_001340440.1:p.Arg10Trp, NP_001340441.1:p.Arg10Gly, NP_001340441.1:p.Arg10Trp, NP_001340434.1:p.Arg55Gly, NP_001340434.1:p.Arg55Trp, NP_001340436.1:p.Arg55Gly, NP_001340436.1:p.Arg55Trp, NP_001340435.1:p.Arg55Gly, NP_001340435.1:p.Arg55Trp, NP_001340437.1:p.Arg55Gly, NP_001340437.1:p.Arg55Trp, NP_001340438.1:p.Arg55Gly, NP_001340438.1:p.Arg55Trp, NP_001340439.1:p.Arg55Gly, NP_001340439.1:p.Arg55Trp, XP_016869096.1:p.Arg55Gly, XP_016869096.1:p.Arg55Trp, XP_047277884.1:p.Arg55Gly, XP_047277884.1:p.Arg55Trp, XP_047277887.1:p.Arg55Gly, XP_047277887.1:p.Arg55Trp, XP_047277885.1:p.Arg55Gly, XP_047277885.1:p.Arg55Trp, XP_047277886.1:p.Arg55Gly, XP_047277886.1:p.Arg55Trp

                            14.

                            rs1472971918 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:19837067 (GRCh38)
                              8:19694578 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:19837066:G:A
                              Gene:
                              INTS10 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000008.11:g.19837067G>A, NC_000008.10:g.19694578G>A, NM_018142.4:c.1546G>A, NM_018142.3:c.1546G>A, NM_018142.2:c.1546G>A, NR_148458.2:n.1668G>A, NR_148458.1:n.1935G>A, NM_001353513.2:c.1210G>A, NM_001353513.1:c.1210G>A, NM_001353514.2:c.1207G>A, NM_001353514.1:c.1207G>A, NM_001353511.2:c.1411G>A, NM_001353511.1:c.1411G>A, NM_001353515.2:c.1207G>A, NM_001353515.1:c.1207G>A, NR_148456.2:n.1668G>A, NR_148456.1:n.1935G>A, NR_148453.2:n.1528G>A, NR_148453.1:n.1795G>A, NM_001353512.2:c.1411G>A, NM_001353512.1:c.1411G>A, NM_001353505.2:c.1549G>A, NM_001353505.1:c.1549G>A, NM_001353507.2:c.1546G>A, NM_001353507.1:c.1546G>A, NM_001353506.2:c.1546G>A, NM_001353506.1:c.1546G>A, NM_001353508.2:c.1543G>A, NM_001353508.1:c.1543G>A, NM_001353517.2:c.859G>A, NM_001353517.1:c.859G>A, NR_148454.2:n.1528G>A, NR_148454.1:n.1795G>A, NR_148457.2:n.1498G>A, NR_148457.1:n.1765G>A, NR_148452.2:n.1629G>A, NR_148452.1:n.1896G>A, NM_001353519.2:c.859G>A, NM_001353519.1:c.859G>A, NM_001353509.2:c.1483G>A, NM_001353509.1:c.1483G>A, NM_001353510.2:c.1549G>A, NM_001353510.1:c.1549G>A, NM_001353521.2:c.859G>A, NM_001353521.1:c.859G>A, NM_001353516.2:c.862G>A, NM_001353516.1:c.862G>A, NM_001353518.2:c.859G>A, NM_001353518.1:c.859G>A, NM_001353520.2:c.796G>A, NM_001353520.1:c.796G>A, NM_001353522.2:c.859G>A, NM_001353522.1:c.859G>A, NR_148455.2:n.1498G>A, NR_148455.1:n.1765G>A, NR_148451.2:n.1358G>A, NR_148451.1:n.1625G>A, XM_017013607.2:c.1549G>A, XM_017013607.1:c.1549G>A, XR_007060743.1:n.1668G>A, XM_047421928.1:c.1549G>A, XM_047421931.1:c.1546G>A, XM_047421929.1:c.1549G>A, XM_047421930.1:c.1546G>A, NP_060612.2:p.Val516Ile, NP_001340442.1:p.Val404Ile, NP_001340443.1:p.Val403Ile, NP_001340440.1:p.Val471Ile, NP_001340444.1:p.Val403Ile, NP_001340441.1:p.Val471Ile, NP_001340434.1:p.Val517Ile, NP_001340436.1:p.Val516Ile, NP_001340435.1:p.Val516Ile, NP_001340437.1:p.Val515Ile, NP_001340446.1:p.Val287Ile, NP_001340448.1:p.Val287Ile, NP_001340438.1:p.Val495Ile, NP_001340439.1:p.Val517Ile, NP_001340450.1:p.Val287Ile, NP_001340445.1:p.Val288Ile, NP_001340447.1:p.Val287Ile, NP_001340449.1:p.Val266Ile, NP_001340451.1:p.Val287Ile, XP_016869096.1:p.Val517Ile, XP_047277884.1:p.Val517Ile, XP_047277887.1:p.Val516Ile, XP_047277885.1:p.Val517Ile, XP_047277886.1:p.Val516Ile

                              15.

                              rs1472087983 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                8:19820399 (GRCh38)
                                8:19677910 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:19820398:G:C
                                Gene:
                                INTS10 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.19820399G>C, NC_000008.10:g.19677910G>C, NM_018142.4:c.322G>C, NM_018142.3:c.322G>C, NM_018142.2:c.322G>C, NR_148458.2:n.444G>C, NR_148458.1:n.711G>C, NM_001353513.2:c.-18G>C, NM_001353513.1:c.-18G>C, NM_001353514.2:c.-18G>C, NM_001353514.1:c.-18G>C, NM_001353511.2:c.187G>C, NM_001353511.1:c.187G>C, NM_001353515.2:c.-18G>C, NM_001353515.1:c.-18G>C, NR_148456.2:n.444G>C, NR_148456.1:n.711G>C, NM_001353512.2:c.187G>C, NM_001353512.1:c.187G>C, NM_001353505.2:c.322G>C, NM_001353505.1:c.322G>C, NM_001353507.2:c.322G>C, NM_001353507.1:c.322G>C, NM_001353506.2:c.322G>C, NM_001353506.1:c.322G>C, NM_001353508.2:c.322G>C, NM_001353508.1:c.322G>C, NR_148457.2:n.444G>C, NR_148457.1:n.711G>C, NR_148452.2:n.575G>C, NR_148452.1:n.842G>C, NM_001353509.2:c.322G>C, NM_001353509.1:c.322G>C, NM_001353510.2:c.322G>C, NM_001353510.1:c.322G>C, NR_148455.2:n.444G>C, NR_148455.1:n.711G>C, XM_017013607.2:c.322G>C, XM_017013607.1:c.322G>C, XR_007060743.1:n.444G>C, XM_047421928.1:c.322G>C, XM_047421931.1:c.322G>C, XM_047421929.1:c.322G>C, XM_047421930.1:c.322G>C, NP_060612.2:p.Gly108Arg, NP_001340440.1:p.Gly63Arg, NP_001340441.1:p.Gly63Arg, NP_001340434.1:p.Gly108Arg, NP_001340436.1:p.Gly108Arg, NP_001340435.1:p.Gly108Arg, NP_001340437.1:p.Gly108Arg, NP_001340438.1:p.Gly108Arg, NP_001340439.1:p.Gly108Arg, XP_016869096.1:p.Gly108Arg, XP_047277884.1:p.Gly108Arg, XP_047277887.1:p.Gly108Arg, XP_047277885.1:p.Gly108Arg, XP_047277886.1:p.Gly108Arg

                                16.

                                rs1471986701 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  8:19823890 (GRCh38)
                                  8:19681401 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:19823889:G:C
                                  Gene:
                                  INTS10 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.19823890G>C, NC_000008.10:g.19681401G>C, NM_018142.4:c.682G>C, NM_018142.3:c.682G>C, NM_018142.2:c.682G>C, NR_148458.2:n.804G>C, NR_148458.1:n.1071G>C, NM_001353513.2:c.343G>C, NM_001353513.1:c.343G>C, NM_001353514.2:c.343G>C, NM_001353514.1:c.343G>C, NM_001353511.2:c.547G>C, NM_001353511.1:c.547G>C, NM_001353515.2:c.343G>C, NM_001353515.1:c.343G>C, NR_148456.2:n.804G>C, NR_148456.1:n.1071G>C, NR_148453.2:n.664G>C, NR_148453.1:n.931G>C, NM_001353512.2:c.547G>C, NM_001353512.1:c.547G>C, NM_001353505.2:c.682G>C, NM_001353505.1:c.682G>C, NM_001353507.2:c.682G>C, NM_001353507.1:c.682G>C, NM_001353506.2:c.682G>C, NM_001353506.1:c.682G>C, NM_001353508.2:c.682G>C, NM_001353508.1:c.682G>C, NM_001353517.2:c.-6G>C, NM_001353517.1:c.-6G>C, NR_148454.2:n.664G>C, NR_148454.1:n.931G>C, NR_148457.2:n.804G>C, NR_148457.1:n.1071G>C, NR_148452.2:n.935G>C, NR_148452.1:n.1202G>C, NM_001353519.2:c.-6G>C, NM_001353519.1:c.-6G>C, NM_001353509.2:c.682G>C, NM_001353509.1:c.682G>C, NM_001353510.2:c.682G>C, NM_001353510.1:c.682G>C, NM_001353521.2:c.-6G>C, NM_001353521.1:c.-6G>C, NM_001353516.2:c.-6G>C, NM_001353516.1:c.-6G>C, NM_001353518.2:c.-6G>C, NM_001353518.1:c.-6G>C, NM_001353520.2:c.-6G>C, NM_001353520.1:c.-6G>C, NM_001353522.2:c.-6G>C, NM_001353522.1:c.-6G>C, NR_148455.2:n.804G>C, NR_148455.1:n.1071G>C, NR_148451.2:n.664G>C, NR_148451.1:n.931G>C, XM_017013607.2:c.682G>C, XM_017013607.1:c.682G>C, XR_007060743.1:n.804G>C, XM_047421928.1:c.682G>C, XM_047421931.1:c.682G>C, XM_047421929.1:c.682G>C, XM_047421930.1:c.682G>C, NP_060612.2:p.Asp228His, NP_001340442.1:p.Asp115His, NP_001340443.1:p.Asp115His, NP_001340440.1:p.Asp183His, NP_001340444.1:p.Asp115His, NP_001340441.1:p.Asp183His, NP_001340434.1:p.Asp228His, NP_001340436.1:p.Asp228His, NP_001340435.1:p.Asp228His, NP_001340437.1:p.Asp228His, NP_001340438.1:p.Asp228His, NP_001340439.1:p.Asp228His, XP_016869096.1:p.Asp228His, XP_047277884.1:p.Asp228His, XP_047277887.1:p.Asp228His, XP_047277885.1:p.Asp228His, XP_047277886.1:p.Asp228His

                                  17.

                                  rs1471838360 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    8:19817579 (GRCh38)
                                    8:19675090 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:19817578:C:G,NC_000008.11:19817578:C:T
                                    Gene:
                                    INTS10 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000008.11:g.19817579C>G, NC_000008.11:g.19817579C>T, NC_000008.10:g.19675090C>G, NC_000008.10:g.19675090C>T, NM_018142.4:c.42C>G, NM_018142.4:c.42C>T, NM_018142.3:c.42C>G, NM_018142.3:c.42C>T, NM_018142.2:c.42C>G, NM_018142.2:c.42C>T, NR_148458.2:n.164C>G, NR_148458.2:n.164C>T, NR_148458.1:n.431C>G, NR_148458.1:n.431C>T, NM_001353513.2:c.-429C>G, NM_001353513.2:c.-429C>T, NM_001353513.1:c.-429C>G, NM_001353513.1:c.-429C>T, NM_001353514.2:c.-429C>G, NM_001353514.2:c.-429C>T, NM_001353514.1:c.-429C>G, NM_001353514.1:c.-429C>T, NM_001353511.2:c.-175C>G, NM_001353511.2:c.-175C>T, NM_001353511.1:c.-175C>G, NM_001353511.1:c.-175C>T, NM_001353515.2:c.-429C>G, NM_001353515.2:c.-429C>T, NM_001353515.1:c.-429C>G, NM_001353515.1:c.-429C>T, NR_148456.2:n.164C>G, NR_148456.2:n.164C>T, NR_148456.1:n.431C>G, NR_148456.1:n.431C>T, NR_148453.2:n.164C>G, NR_148453.2:n.164C>T, NR_148453.1:n.431C>G, NR_148453.1:n.431C>T, NM_001353512.2:c.-175C>G, NM_001353512.2:c.-175C>T, NM_001353512.1:c.-175C>G, NM_001353512.1:c.-175C>T, NM_001353505.2:c.42C>G, NM_001353505.2:c.42C>T, NM_001353505.1:c.42C>G, NM_001353505.1:c.42C>T, NM_001353507.2:c.42C>G, NM_001353507.2:c.42C>T, NM_001353507.1:c.42C>G, NM_001353507.1:c.42C>T, NM_001353506.2:c.42C>G, NM_001353506.2:c.42C>T, NM_001353506.1:c.42C>G, NM_001353506.1:c.42C>T, NM_001353508.2:c.42C>G, NM_001353508.2:c.42C>T, NM_001353508.1:c.42C>G, NM_001353508.1:c.42C>T, NM_001353517.2:c.-637C>G, NM_001353517.2:c.-637C>T, NM_001353517.1:c.-637C>G, NM_001353517.1:c.-637C>T, NR_148454.2:n.164C>G, NR_148454.2:n.164C>T, NR_148454.1:n.431C>G, NR_148454.1:n.431C>T, NR_148457.2:n.164C>G, NR_148457.2:n.164C>T, NR_148457.1:n.431C>G, NR_148457.1:n.431C>T, NR_148452.2:n.164C>G, NR_148452.2:n.164C>T, NR_148452.1:n.431C>G, NR_148452.1:n.431C>T, NM_001353519.2:c.-587C>G, NM_001353519.2:c.-587C>T, NM_001353519.1:c.-587C>G, NM_001353519.1:c.-587C>T, NM_001353509.2:c.42C>G, NM_001353509.2:c.42C>T, NM_001353509.1:c.42C>G, NM_001353509.1:c.42C>T, NM_001353510.2:c.42C>G, NM_001353510.2:c.42C>T, NM_001353510.1:c.42C>G, NM_001353510.1:c.42C>T, NM_001353521.2:c.-637C>G, NM_001353521.2:c.-637C>T, NM_001353521.1:c.-637C>G, NM_001353521.1:c.-637C>T, NM_001353516.2:c.-506C>G, NM_001353516.2:c.-506C>T, NM_001353516.1:c.-506C>G, NM_001353516.1:c.-506C>T, NM_001353518.2:c.-506C>G, NM_001353518.2:c.-506C>T, NM_001353518.1:c.-506C>G, NM_001353518.1:c.-506C>T, NM_001353520.2:c.-506C>G, NM_001353520.2:c.-506C>T, NM_001353520.1:c.-506C>G, NM_001353520.1:c.-506C>T, NM_001353522.2:c.-506C>G, NM_001353522.2:c.-506C>T, NM_001353522.1:c.-506C>G, NM_001353522.1:c.-506C>T, NR_148455.2:n.164C>G, NR_148455.2:n.164C>T, NR_148455.1:n.431C>G, NR_148455.1:n.431C>T, NR_148451.2:n.164C>G, NR_148451.2:n.164C>T, NR_148451.1:n.431C>G, NR_148451.1:n.431C>T, XM_017013607.2:c.42C>G, XM_017013607.2:c.42C>T, XM_017013607.1:c.42C>G, XM_017013607.1:c.42C>T, XR_007060743.1:n.164C>G, XR_007060743.1:n.164C>T, XM_047421928.1:c.42C>G, XM_047421928.1:c.42C>T, XM_047421931.1:c.42C>G, XM_047421931.1:c.42C>T, XM_047421929.1:c.42C>G, XM_047421929.1:c.42C>T, XM_047421930.1:c.42C>G, XM_047421930.1:c.42C>T

                                    18.

                                    rs1470566139 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:19824805 (GRCh38)
                                      8:19682316 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:19824804:G:A
                                      Gene:
                                      INTS10 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,splice_acceptor_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.19824805G>A, NC_000008.10:g.19682316G>A, NM_018142.4:c.839G>A, NM_018142.3:c.839G>A, NM_018142.2:c.839G>A, NR_148458.2:n.961G>A, NR_148458.1:n.1228G>A, NM_001353513.2:c.500G>A, NM_001353513.1:c.500G>A, NM_001353514.2:c.500G>A, NM_001353514.1:c.500G>A, NM_001353511.2:c.704G>A, NM_001353511.1:c.704G>A, NM_001353515.2:c.500G>A, NM_001353515.1:c.500G>A, NR_148456.2:n.961G>A, NR_148456.1:n.1228G>A, NR_148453.2:n.821G>A, NR_148453.1:n.1088G>A, NM_001353512.2:c.704G>A, NM_001353512.1:c.704G>A, NM_001353505.2:c.839G>A, NM_001353505.1:c.839G>A, NM_001353506.2:c.839G>A, NM_001353506.1:c.839G>A, NM_001353517.2:c.152G>A, NM_001353517.1:c.152G>A, NR_148454.2:n.821G>A, NR_148454.1:n.1088G>A, NM_001353519.2:c.152G>A, NM_001353519.1:c.152G>A, NM_001353509.2:c.776G>A, NM_001353509.1:c.776G>A, NM_001353510.2:c.839G>A, NM_001353510.1:c.839G>A, NM_001353521.2:c.152G>A, NM_001353521.1:c.152G>A, NM_001353516.2:c.152G>A, NM_001353516.1:c.152G>A, NM_001353518.2:c.152G>A, NM_001353518.1:c.152G>A, NM_001353520.2:c.89G>A, NM_001353520.1:c.89G>A, NM_001353522.2:c.152G>A, NM_001353522.1:c.152G>A, XM_017013607.2:c.839G>A, XM_017013607.1:c.839G>A, XR_007060743.1:n.961G>A, XM_047421928.1:c.839G>A, XM_047421931.1:c.839G>A, XM_047421929.1:c.839G>A, XM_047421930.1:c.839G>A, NP_060612.2:p.Ser280Asn, NP_001340442.1:p.Ser167Asn, NP_001340443.1:p.Ser167Asn, NP_001340440.1:p.Ser235Asn, NP_001340444.1:p.Ser167Asn, NP_001340441.1:p.Ser235Asn, NP_001340434.1:p.Ser280Asn, NP_001340435.1:p.Ser280Asn, NP_001340446.1:p.Ser51Asn, NP_001340448.1:p.Ser51Asn, NP_001340438.1:p.Ser259Asn, NP_001340439.1:p.Ser280Asn, NP_001340450.1:p.Ser51Asn, NP_001340445.1:p.Ser51Asn, NP_001340447.1:p.Ser51Asn, NP_001340449.1:p.Ser30Asn, NP_001340451.1:p.Ser51Asn, XP_016869096.1:p.Ser280Asn, XP_047277884.1:p.Ser280Asn, XP_047277887.1:p.Ser280Asn, XP_047277885.1:p.Ser280Asn, XP_047277886.1:p.Ser280Asn

                                      19.

                                      rs1469194951 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        8:19833205 (GRCh38)
                                        8:19690716 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:19833204:T:A
                                        Gene:
                                        INTS10 (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.19833205T>A, NC_000008.10:g.19690716T>A, NM_018142.4:c.1414T>A, NM_018142.3:c.1414T>A, NM_018142.2:c.1414T>A, NR_148458.2:n.1536T>A, NR_148458.1:n.1803T>A, NM_001353513.2:c.1078T>A, NM_001353513.1:c.1078T>A, NM_001353514.2:c.1075T>A, NM_001353514.1:c.1075T>A, NM_001353511.2:c.1279T>A, NM_001353511.1:c.1279T>A, NM_001353515.2:c.1075T>A, NM_001353515.1:c.1075T>A, NR_148456.2:n.1536T>A, NR_148456.1:n.1803T>A, NR_148453.2:n.1396T>A, NR_148453.1:n.1663T>A, NM_001353512.2:c.1279T>A, NM_001353512.1:c.1279T>A, NM_001353505.2:c.1417T>A, NM_001353505.1:c.1417T>A, NM_001353507.2:c.1414T>A, NM_001353507.1:c.1414T>A, NM_001353506.2:c.1414T>A, NM_001353506.1:c.1414T>A, NM_001353508.2:c.1411T>A, NM_001353508.1:c.1411T>A, NM_001353517.2:c.727T>A, NM_001353517.1:c.727T>A, NR_148454.2:n.1396T>A, NR_148454.1:n.1663T>A, NR_148457.2:n.1366T>A, NR_148457.1:n.1633T>A, NR_148452.2:n.1497T>A, NR_148452.1:n.1764T>A, NM_001353519.2:c.727T>A, NM_001353519.1:c.727T>A, NM_001353509.2:c.1351T>A, NM_001353509.1:c.1351T>A, NM_001353510.2:c.1417T>A, NM_001353510.1:c.1417T>A, NM_001353521.2:c.727T>A, NM_001353521.1:c.727T>A, NM_001353516.2:c.730T>A, NM_001353516.1:c.730T>A, NM_001353518.2:c.727T>A, NM_001353518.1:c.727T>A, NM_001353520.2:c.664T>A, NM_001353520.1:c.664T>A, NM_001353522.2:c.727T>A, NM_001353522.1:c.727T>A, NR_148455.2:n.1366T>A, NR_148455.1:n.1633T>A, NR_148451.2:n.1226T>A, NR_148451.1:n.1493T>A, XM_017013607.2:c.1417T>A, XM_017013607.1:c.1417T>A, XR_007060743.1:n.1536T>A, XM_047421928.1:c.1417T>A, XM_047421931.1:c.1414T>A, XM_047421929.1:c.1417T>A, XM_047421930.1:c.1414T>A, NP_060612.2:p.Leu472Ile, NP_001340442.1:p.Leu360Ile, NP_001340443.1:p.Leu359Ile, NP_001340440.1:p.Leu427Ile, NP_001340444.1:p.Leu359Ile, NP_001340441.1:p.Leu427Ile, NP_001340434.1:p.Leu473Ile, NP_001340436.1:p.Leu472Ile, NP_001340435.1:p.Leu472Ile, NP_001340437.1:p.Leu471Ile, NP_001340446.1:p.Leu243Ile, NP_001340448.1:p.Leu243Ile, NP_001340438.1:p.Leu451Ile, NP_001340439.1:p.Leu473Ile, NP_001340450.1:p.Leu243Ile, NP_001340445.1:p.Leu244Ile, NP_001340447.1:p.Leu243Ile, NP_001340449.1:p.Leu222Ile, NP_001340451.1:p.Leu243Ile, XP_016869096.1:p.Leu473Ile, XP_047277884.1:p.Leu473Ile, XP_047277887.1:p.Leu472Ile, XP_047277885.1:p.Leu473Ile, XP_047277886.1:p.Leu472Ile

                                        20.

                                        rs1468278024 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          8:19851785 (GRCh38)
                                          8:19709296 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:19851784:C:A
                                          Gene:
                                          INTS10 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.19851785C>A, NC_000008.10:g.19709296C>A, NM_018142.4:c.2113C>A, NM_018142.3:c.2113C>A, NM_018142.2:c.2113C>A, NR_148458.2:n.2455C>A, NR_148458.1:n.2722C>A, NM_001353513.2:c.1855C>A, NM_001353513.1:c.1855C>A, NM_001353514.2:c.1852C>A, NM_001353514.1:c.1852C>A, NM_001353511.2:c.2056C>A, NM_001353511.1:c.2056C>A, NM_001353515.2:c.1774C>A, NM_001353515.1:c.1774C>A, NR_148456.2:n.2364C>A, NR_148456.1:n.2631C>A, NR_148453.2:n.2342C>A, NR_148453.1:n.2609C>A, NM_001353512.2:c.1978C>A, NM_001353512.1:c.1978C>A, NM_001353505.2:c.2194C>A, NM_001353505.1:c.2194C>A, NM_001353507.2:c.2191C>A, NM_001353507.1:c.2191C>A, NM_001353506.2:c.2191C>A, NM_001353506.1:c.2191C>A, NM_001353508.2:c.2188C>A, NM_001353508.1:c.2188C>A, NM_001353517.2:c.1504C>A, NM_001353517.1:c.1504C>A, NR_148454.2:n.2295C>A, NR_148454.1:n.2562C>A, NR_148457.2:n.2285C>A, NR_148457.1:n.2552C>A, NR_148452.2:n.2274C>A, NR_148452.1:n.2541C>A, NM_001353519.2:c.1504C>A, NM_001353519.1:c.1504C>A, NM_001353509.2:c.2128C>A, NM_001353509.1:c.2128C>A, NM_001353510.2:c.2116C>A, NM_001353510.1:c.2116C>A, NM_001353521.2:c.1426C>A, NM_001353521.1:c.1426C>A, NM_001353516.2:c.1507C>A, NM_001353516.1:c.1507C>A, NM_001353518.2:c.1504C>A, NM_001353518.1:c.1504C>A, NM_001353520.2:c.1441C>A, NM_001353520.1:c.1441C>A, NM_001353522.2:c.1426C>A, NM_001353522.1:c.1426C>A, NR_148455.2:n.2065C>A, NR_148455.1:n.2332C>A, NR_148451.2:n.2003C>A, NR_148451.1:n.2270C>A, XM_047421928.1:c.*164C>A, NP_060612.2:p.Leu705Ile, NP_001340442.1:p.Leu619Ile, NP_001340443.1:p.Leu618Ile, NP_001340440.1:p.Leu686Ile, NP_001340444.1:p.Leu592Ile, NP_001340441.1:p.Leu660Ile, NP_001340434.1:p.Leu732Ile, NP_001340436.1:p.Leu731Ile, NP_001340435.1:p.Leu731Ile, NP_001340437.1:p.Leu730Ile, NP_001340446.1:p.Leu502Ile, NP_001340448.1:p.Leu502Ile, NP_001340438.1:p.Leu710Ile, NP_001340439.1:p.Leu706Ile, NP_001340450.1:p.Leu476Ile, NP_001340445.1:p.Leu503Ile, NP_001340447.1:p.Leu502Ile, NP_001340449.1:p.Leu481Ile, NP_001340451.1:p.Leu476Ile

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