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Items: 1 to 20 of 566

1.

rs1488947663 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    19:53109075 (GRCh38)
    19:53612328 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53109074:C:G
    Gene:
    ZNF415 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.53109075C>G, NC_000019.9:g.53612328C>G, NM_001136038.4:c.970G>C, NM_001136038.3:c.970G>C, NM_001136038.2:c.970G>C, NM_018355.4:c.970G>C, NM_018355.3:c.970G>C, NM_001164309.3:c.970G>C, NM_001164309.2:c.970G>C, NM_001164309.1:c.970G>C, XM_024451596.2:c.1201G>C, XM_024451596.1:c.1201G>C, NM_001352130.2:c.1201G>C, NM_001352130.1:c.1201G>C, NM_001352148.2:c.931G>C, NM_001352148.1:c.931G>C, NM_001352133.2:c.1114G>C, NM_001352133.1:c.1114G>C, XM_024451598.2:c.1201G>C, XM_024451598.1:c.1201G>C, NM_001352144.2:c.970G>C, NM_001352144.1:c.970G>C, XM_024451599.2:c.1201G>C, XM_024451599.1:c.1201G>C, NM_001352149.2:c.931G>C, NM_001352149.1:c.931G>C, NM_001330766.2:c.1114G>C, NM_001330766.1:c.1114G>C, NM_001352131.2:c.1201G>C, NM_001352131.1:c.1201G>C, NM_001352137.2:c.1078G>C, NM_001352137.1:c.1078G>C, XM_006723267.2:c.1201G>C, XM_006723267.1:c.1201G>C, NM_001352132.2:c.1114G>C, NM_001352132.1:c.1114G>C, NM_001352141.2:c.1006G>C, NM_001352141.1:c.1006G>C, NM_001352134.2:c.1114G>C, NM_001352134.1:c.1114G>C, XM_024451595.2:c.1339G>C, XM_024451595.1:c.1339G>C, XM_017026964.2:c.970G>C, XM_017026964.1:c.970G>C, NM_001352136.2:c.1078G>C, NM_001352136.1:c.1078G>C, NM_001352143.2:c.970G>C, NM_001352143.1:c.970G>C, XM_024451597.2:c.1201G>C, XM_024451597.1:c.1201G>C, NM_001352138.2:c.1006G>C, NM_001352138.1:c.1006G>C, NM_001352147.2:c.931G>C, NM_001352147.1:c.931G>C, NM_001352140.2:c.1006G>C, NM_001352140.1:c.1006G>C, NM_001352146.2:c.970G>C, NM_001352146.1:c.970G>C, NM_001352151.2:c.280G>C, NM_001352151.1:c.280G>C, NM_001352142.2:c.970G>C, NM_001352142.1:c.970G>C, XM_017026960.2:c.1114G>C, XM_017026960.1:c.1114G>C, NM_001352139.2:c.1006G>C, NM_001352139.1:c.1006G>C, NM_001352135.2:c.1108G>C, NM_001352135.1:c.1108G>C, NM_001330759.2:c.280G>C, NM_001330759.1:c.280G>C, XM_017026969.2:c.883G>C, XM_017026969.1:c.883G>C, NM_001352150.2:c.280G>C, NM_001352150.1:c.280G>C, XM_047439083.1:c.1114G>C, XM_047439087.1:c.1078G>C, XM_047439082.1:c.1201G>C, XM_047439088.1:c.1006G>C, XM_047439084.1:c.1114G>C, XM_047439085.1:c.1114G>C, XM_047439079.1:c.1441G>C, NR_028343.1:n.1463G>C, XM_047439080.1:c.1318G>C, XM_047439086.1:c.1084G>C, XM_047439081.1:c.1210G>C, XM_047439089.1:c.931G>C, XM_047439090.1:c.868G>C, NP_001129510.2:p.Gly324Arg, NP_060825.2:p.Gly324Arg, NP_001157781.1:p.Gly324Arg, XP_024307364.1:p.Gly401Arg, NP_001339059.1:p.Gly401Arg, NP_001339077.1:p.Gly311Arg, NP_001339062.1:p.Gly372Arg, XP_024307366.1:p.Gly401Arg, NP_001339073.1:p.Gly324Arg, XP_024307367.1:p.Gly401Arg, NP_001339078.1:p.Gly311Arg, NP_001317695.1:p.Gly372Arg, NP_001339060.1:p.Gly401Arg, NP_001339066.1:p.Gly360Arg, XP_006723330.1:p.Gly401Arg, NP_001339061.1:p.Gly372Arg, NP_001339070.1:p.Gly336Arg, NP_001339063.1:p.Gly372Arg, XP_024307363.1:p.Gly447Arg, XP_016882453.1:p.Gly324Arg, NP_001339065.1:p.Gly360Arg, NP_001339072.1:p.Gly324Arg, XP_024307365.1:p.Gly401Arg, NP_001339067.1:p.Gly336Arg, NP_001339076.1:p.Gly311Arg, NP_001339069.1:p.Gly336Arg, NP_001339075.1:p.Gly324Arg, NP_001339080.1:p.Gly94Arg, NP_001339071.1:p.Gly324Arg, XP_016882449.1:p.Gly372Arg, NP_001339068.1:p.Gly336Arg, NP_001339064.1:p.Gly370Arg, NP_001317688.1:p.Gly94Arg, XP_016882458.1:p.Gly295Arg, NP_001339079.1:p.Gly94Arg, XP_047295039.1:p.Gly372Arg, XP_047295043.1:p.Gly360Arg, XP_047295038.1:p.Gly401Arg, XP_047295044.1:p.Gly336Arg, XP_047295040.1:p.Gly372Arg, XP_047295041.1:p.Gly372Arg, XP_047295035.1:p.Gly481Arg, XP_047295036.1:p.Gly440Arg, XP_047295042.1:p.Gly362Arg, XP_047295037.1:p.Gly404Arg, XP_047295045.1:p.Gly311Arg, XP_047295046.1:p.Gly290Arg

    2.

    rs1486102584 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:53115755 (GRCh38)
      19:53619008 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53115754:G:A
      Gene:
      ZNF415 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000031/1 (ALFA)
      A=0./0 (GnomAD)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.53115755G>A, NC_000019.9:g.53619008G>A, XM_024451596.2:c.193C>T, XM_024451596.1:c.193C>T, NM_001352130.2:c.193C>T, NM_001352130.1:c.193C>T, NM_001352148.2:c.46C>T, NM_001352148.1:c.46C>T, NM_001352133.2:c.131C>T, NM_001352133.1:c.131C>T, XM_024451598.2:c.193C>T, XM_024451598.1:c.193C>T, XM_024451599.2:c.193C>T, XM_024451599.1:c.193C>T, NM_001352149.2:c.46C>T, NM_001352149.1:c.46C>T, NM_001330766.2:c.131C>T, NM_001330766.1:c.131C>T, NM_001352131.2:c.193C>T, NM_001352131.1:c.193C>T, NM_001352137.2:c.193C>T, NM_001352137.1:c.193C>T, XM_006723267.2:c.193C>T, XM_006723267.1:c.193C>T, NM_001352132.2:c.131C>T, NM_001352132.1:c.131C>T, NM_001352134.2:c.131C>T, NM_001352134.1:c.131C>T, XM_024451595.2:c.331C>T, XM_024451595.1:c.331C>T, NM_001352136.2:c.193C>T, NM_001352136.1:c.193C>T, XM_024451597.2:c.193C>T, XM_024451597.1:c.193C>T, NM_001352147.2:c.46C>T, NM_001352147.1:c.46C>T, XM_017026960.2:c.131C>T, XM_017026960.1:c.131C>T, XM_047439083.1:c.131C>T, XM_047439087.1:c.193C>T, XM_047439082.1:c.193C>T, XM_047439084.1:c.131C>T, XM_047439085.1:c.131C>T, XM_047439079.1:c.433C>T, NR_028343.1:n.480C>T, XM_047439080.1:c.433C>T, XM_047439086.1:c.101C>T, XM_047439089.1:c.46C>T, XP_024307364.1:p.Arg65Ter, NP_001339059.1:p.Arg65Ter, NP_001339077.1:p.Arg16Ter, NP_001339062.1:p.Thr44Met, XP_024307366.1:p.Arg65Ter, XP_024307367.1:p.Arg65Ter, NP_001339078.1:p.Arg16Ter, NP_001317695.1:p.Thr44Met, NP_001339060.1:p.Arg65Ter, NP_001339066.1:p.Arg65Ter, XP_006723330.1:p.Arg65Ter, NP_001339061.1:p.Thr44Met, NP_001339063.1:p.Thr44Met, XP_024307363.1:p.Arg111Ter, NP_001339065.1:p.Arg65Ter, XP_024307365.1:p.Arg65Ter, NP_001339076.1:p.Arg16Ter, XP_016882449.1:p.Thr44Met, XP_047295039.1:p.Thr44Met, XP_047295043.1:p.Arg65Ter, XP_047295038.1:p.Arg65Ter, XP_047295040.1:p.Thr44Met, XP_047295041.1:p.Thr44Met, XP_047295035.1:p.Arg145Ter, XP_047295036.1:p.Arg145Ter, XP_047295042.1:p.Thr34Met, XP_047295045.1:p.Arg16Ter

      3.

      rs1485743988 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:53109222 (GRCh38)
        19:53612475 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53109221:T:C
        Gene:
        ZNF415 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000019.10:g.53109222T>C, NC_000019.9:g.53612475T>C, NM_001136038.4:c.823A>G, NM_001136038.3:c.823A>G, NM_001136038.2:c.823A>G, NM_018355.4:c.823A>G, NM_018355.3:c.823A>G, NM_001164309.3:c.823A>G, NM_001164309.2:c.823A>G, NM_001164309.1:c.823A>G, XM_024451596.2:c.1054A>G, XM_024451596.1:c.1054A>G, NM_001352130.2:c.1054A>G, NM_001352130.1:c.1054A>G, NM_001352148.2:c.784A>G, NM_001352148.1:c.784A>G, NM_001352133.2:c.967A>G, NM_001352133.1:c.967A>G, XM_024451598.2:c.1054A>G, XM_024451598.1:c.1054A>G, NM_001352144.2:c.823A>G, NM_001352144.1:c.823A>G, XM_024451599.2:c.1054A>G, XM_024451599.1:c.1054A>G, NM_001352149.2:c.784A>G, NM_001352149.1:c.784A>G, NM_001330766.2:c.967A>G, NM_001330766.1:c.967A>G, NM_001352131.2:c.1054A>G, NM_001352131.1:c.1054A>G, NM_001352137.2:c.931A>G, NM_001352137.1:c.931A>G, XM_006723267.2:c.1054A>G, XM_006723267.1:c.1054A>G, NM_001352132.2:c.967A>G, NM_001352132.1:c.967A>G, NM_001352141.2:c.859A>G, NM_001352141.1:c.859A>G, NM_001352134.2:c.967A>G, NM_001352134.1:c.967A>G, XM_024451595.2:c.1192A>G, XM_024451595.1:c.1192A>G, XM_017026964.2:c.823A>G, XM_017026964.1:c.823A>G, NM_001352136.2:c.931A>G, NM_001352136.1:c.931A>G, NM_001352143.2:c.823A>G, NM_001352143.1:c.823A>G, XM_024451597.2:c.1054A>G, XM_024451597.1:c.1054A>G, NM_001352138.2:c.859A>G, NM_001352138.1:c.859A>G, NM_001352147.2:c.784A>G, NM_001352147.1:c.784A>G, NM_001352140.2:c.859A>G, NM_001352140.1:c.859A>G, NM_001352146.2:c.823A>G, NM_001352146.1:c.823A>G, NM_001352151.2:c.133A>G, NM_001352151.1:c.133A>G, NM_001352142.2:c.823A>G, NM_001352142.1:c.823A>G, XM_017026960.2:c.967A>G, XM_017026960.1:c.967A>G, NM_001352139.2:c.859A>G, NM_001352139.1:c.859A>G, NM_001352135.2:c.961A>G, NM_001352135.1:c.961A>G, NM_001330759.2:c.133A>G, NM_001330759.1:c.133A>G, XM_017026969.2:c.736A>G, XM_017026969.1:c.736A>G, NM_001352150.2:c.133A>G, NM_001352150.1:c.133A>G, XM_047439083.1:c.967A>G, XM_047439087.1:c.931A>G, XM_047439082.1:c.1054A>G, XM_047439088.1:c.859A>G, XM_047439084.1:c.967A>G, XM_047439085.1:c.967A>G, XM_047439079.1:c.1294A>G, NR_028343.1:n.1316A>G, XM_047439080.1:c.1171A>G, XM_047439086.1:c.937A>G, XM_047439081.1:c.1063A>G, XM_047439089.1:c.784A>G, XM_047439090.1:c.721A>G, NP_001129510.2:p.Asn275Asp, NP_060825.2:p.Asn275Asp, NP_001157781.1:p.Asn275Asp, XP_024307364.1:p.Asn352Asp, NP_001339059.1:p.Asn352Asp, NP_001339077.1:p.Asn262Asp, NP_001339062.1:p.Asn323Asp, XP_024307366.1:p.Asn352Asp, NP_001339073.1:p.Asn275Asp, XP_024307367.1:p.Asn352Asp, NP_001339078.1:p.Asn262Asp, NP_001317695.1:p.Asn323Asp, NP_001339060.1:p.Asn352Asp, NP_001339066.1:p.Asn311Asp, XP_006723330.1:p.Asn352Asp, NP_001339061.1:p.Asn323Asp, NP_001339070.1:p.Asn287Asp, NP_001339063.1:p.Asn323Asp, XP_024307363.1:p.Asn398Asp, XP_016882453.1:p.Asn275Asp, NP_001339065.1:p.Asn311Asp, NP_001339072.1:p.Asn275Asp, XP_024307365.1:p.Asn352Asp, NP_001339067.1:p.Asn287Asp, NP_001339076.1:p.Asn262Asp, NP_001339069.1:p.Asn287Asp, NP_001339075.1:p.Asn275Asp, NP_001339080.1:p.Asn45Asp, NP_001339071.1:p.Asn275Asp, XP_016882449.1:p.Asn323Asp, NP_001339068.1:p.Asn287Asp, NP_001339064.1:p.Asn321Asp, NP_001317688.1:p.Asn45Asp, XP_016882458.1:p.Asn246Asp, NP_001339079.1:p.Asn45Asp, XP_047295039.1:p.Asn323Asp, XP_047295043.1:p.Asn311Asp, XP_047295038.1:p.Asn352Asp, XP_047295044.1:p.Asn287Asp, XP_047295040.1:p.Asn323Asp, XP_047295041.1:p.Asn323Asp, XP_047295035.1:p.Asn432Asp, XP_047295036.1:p.Asn391Asp, XP_047295042.1:p.Asn313Asp, XP_047295037.1:p.Asn355Asp, XP_047295045.1:p.Asn262Asp, XP_047295046.1:p.Asn241Asp

        4.

        rs1483001877 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          19:53109666 (GRCh38)
          19:53612919 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53109665:T:G
          Gene:
          ZNF415 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.53109666T>G, NC_000019.9:g.53612919T>G, NM_001136038.4:c.379A>C, NM_001136038.3:c.379A>C, NM_001136038.2:c.379A>C, NM_018355.4:c.379A>C, NM_018355.3:c.379A>C, NM_001164309.3:c.379A>C, NM_001164309.2:c.379A>C, NM_001164309.1:c.379A>C, XM_024451596.2:c.610A>C, XM_024451596.1:c.610A>C, NM_001352130.2:c.610A>C, NM_001352130.1:c.610A>C, NM_001352148.2:c.340A>C, NM_001352148.1:c.340A>C, NM_001352133.2:c.523A>C, NM_001352133.1:c.523A>C, XM_024451598.2:c.610A>C, XM_024451598.1:c.610A>C, NM_001352144.2:c.379A>C, NM_001352144.1:c.379A>C, XM_024451599.2:c.610A>C, XM_024451599.1:c.610A>C, NM_001352149.2:c.340A>C, NM_001352149.1:c.340A>C, NM_001330766.2:c.523A>C, NM_001330766.1:c.523A>C, NM_001352131.2:c.610A>C, NM_001352131.1:c.610A>C, NM_001352137.2:c.487A>C, NM_001352137.1:c.487A>C, XM_006723267.2:c.610A>C, XM_006723267.1:c.610A>C, NM_001352132.2:c.523A>C, NM_001352132.1:c.523A>C, NM_001352141.2:c.415A>C, NM_001352141.1:c.415A>C, NM_001352134.2:c.523A>C, NM_001352134.1:c.523A>C, XM_024451595.2:c.748A>C, XM_024451595.1:c.748A>C, XM_017026964.2:c.379A>C, XM_017026964.1:c.379A>C, NM_001352136.2:c.487A>C, NM_001352136.1:c.487A>C, NM_001352143.2:c.379A>C, NM_001352143.1:c.379A>C, XM_024451597.2:c.610A>C, XM_024451597.1:c.610A>C, NM_001352138.2:c.415A>C, NM_001352138.1:c.415A>C, NM_001352147.2:c.340A>C, NM_001352147.1:c.340A>C, NM_001352140.2:c.415A>C, NM_001352140.1:c.415A>C, NM_001352146.2:c.379A>C, NM_001352146.1:c.379A>C, NM_001352151.2:c.-312A>C, NM_001352151.1:c.-312A>C, NM_001352142.2:c.379A>C, NM_001352142.1:c.379A>C, XM_017026960.2:c.523A>C, XM_017026960.1:c.523A>C, NM_001352139.2:c.415A>C, NM_001352139.1:c.415A>C, NM_001352135.2:c.517A>C, NM_001352135.1:c.517A>C, NM_001330759.2:c.-312A>C, NM_001330759.1:c.-312A>C, XM_017026969.2:c.292A>C, XM_017026969.1:c.292A>C, NM_001352150.2:c.-312A>C, NM_001352150.1:c.-312A>C, XM_047439083.1:c.523A>C, XM_047439087.1:c.487A>C, XM_047439082.1:c.610A>C, XM_047439088.1:c.415A>C, XM_047439084.1:c.523A>C, XM_047439085.1:c.523A>C, XM_047439079.1:c.850A>C, NR_028343.1:n.872A>C, XM_047439080.1:c.727A>C, XM_047439086.1:c.493A>C, XM_047439081.1:c.619A>C, XM_047439089.1:c.340A>C, XM_047439090.1:c.277A>C

          5.

          rs1481905379 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:53115274 (GRCh38)
            19:53618527 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53115273:G:A
            Gene:
            ZNF415 (Varview)
            Functional Consequence:
            synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000019.10:g.53115274G>A, NC_000019.9:g.53618527G>A, XM_024451596.2:c.303C>T, XM_024451596.1:c.303C>T, NM_001352130.2:c.303C>T, NM_001352130.1:c.303C>T, NM_001352133.2:c.216C>T, NM_001352133.1:c.216C>T, XM_024451598.2:c.303C>T, XM_024451598.1:c.303C>T, XM_024451599.2:c.303C>T, XM_024451599.1:c.303C>T, NM_001330766.2:c.216C>T, NM_001330766.1:c.216C>T, NM_001352131.2:c.303C>T, NM_001352131.1:c.303C>T, XM_006723267.2:c.303C>T, XM_006723267.1:c.303C>T, NM_001352132.2:c.216C>T, NM_001352132.1:c.216C>T, NM_001352141.2:c.108C>T, NM_001352141.1:c.108C>T, NM_001352134.2:c.216C>T, NM_001352134.1:c.216C>T, XM_024451595.2:c.441C>T, XM_024451595.1:c.441C>T, XM_024451597.2:c.303C>T, XM_024451597.1:c.303C>T, NM_001352138.2:c.108C>T, NM_001352138.1:c.108C>T, NM_001352140.2:c.108C>T, NM_001352140.1:c.108C>T, XM_017026960.2:c.216C>T, XM_017026960.1:c.216C>T, NM_001352139.2:c.108C>T, NM_001352139.1:c.108C>T, XM_047439083.1:c.216C>T, XM_047439082.1:c.303C>T, XM_047439088.1:c.108C>T, XM_047439084.1:c.216C>T, XM_047439085.1:c.216C>T, XM_047439079.1:c.543C>T, NR_028343.1:n.565C>T, XM_047439086.1:c.186C>T

            6.

            rs1479941946 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ATGA>- [Show Flanks]
              Chromosome:
              19:53109331 (GRCh38)
              19:53612584 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53109328:GAATGA:GA
              Gene:
              ZNF415 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GA=0./0 (ALFA)
              -=0.000004/1 (GnomAD_exomes)
              -=0.000008/2 (TOPMED)
              HGVS:
              NC_000019.10:g.53109331_53109334del, NC_000019.9:g.53612584_53612587del, NM_001136038.4:c.713_716del, NM_001136038.3:c.713_716del, NM_001136038.2:c.713_716del, NM_018355.4:c.713_716del, NM_018355.3:c.713_716del, NM_001164309.3:c.713_716del, NM_001164309.2:c.713_716del, NM_001164309.1:c.713_716del, XM_024451596.2:c.944_947del, XM_024451596.1:c.944_947del, NM_001352130.2:c.944_947del, NM_001352130.1:c.944_947del, NM_001352148.2:c.674_677del, NM_001352148.1:c.674_677del, NM_001352133.2:c.857_860del, NM_001352133.1:c.857_860del, XM_024451598.2:c.944_947del, XM_024451598.1:c.944_947del, NM_001352144.2:c.713_716del, NM_001352144.1:c.713_716del, XM_024451599.2:c.944_947del, XM_024451599.1:c.944_947del, NM_001352149.2:c.674_677del, NM_001352149.1:c.674_677del, NM_001330766.2:c.857_860del, NM_001330766.1:c.857_860del, NM_001352131.2:c.944_947del, NM_001352131.1:c.944_947del, NM_001352137.2:c.821_824del, NM_001352137.1:c.821_824del, XM_006723267.2:c.944_947del, XM_006723267.1:c.944_947del, NM_001352132.2:c.857_860del, NM_001352132.1:c.857_860del, NM_001352141.2:c.749_752del, NM_001352141.1:c.749_752del, NM_001352134.2:c.857_860del, NM_001352134.1:c.857_860del, XM_024451595.2:c.1082_1085del, XM_024451595.1:c.1082_1085del, XM_017026964.2:c.713_716del, XM_017026964.1:c.713_716del, NM_001352136.2:c.821_824del, NM_001352136.1:c.821_824del, NM_001352143.2:c.713_716del, NM_001352143.1:c.713_716del, XM_024451597.2:c.944_947del, XM_024451597.1:c.944_947del, NM_001352138.2:c.749_752del, NM_001352138.1:c.749_752del, NM_001352147.2:c.674_677del, NM_001352147.1:c.674_677del, NM_001352140.2:c.749_752del, NM_001352140.1:c.749_752del, NM_001352146.2:c.713_716del, NM_001352146.1:c.713_716del, NM_001352151.2:c.23_26del, NM_001352151.1:c.23_26del, NM_001352142.2:c.713_716del, NM_001352142.1:c.713_716del, XM_017026960.2:c.857_860del, XM_017026960.1:c.857_860del, NM_001352139.2:c.749_752del, NM_001352139.1:c.749_752del, NM_001352135.2:c.851_854del, NM_001352135.1:c.851_854del, NM_001330759.2:c.23_26del, NM_001330759.1:c.23_26del, XM_017026969.2:c.626_629del, XM_017026969.1:c.626_629del, NM_001352150.2:c.23_26del, NM_001352150.1:c.23_26del, XM_047439083.1:c.857_860del, XM_047439087.1:c.821_824del, XM_047439082.1:c.944_947del, XM_047439088.1:c.749_752del, XM_047439084.1:c.857_860del, XM_047439085.1:c.857_860del, XM_047439079.1:c.1184_1187del, NR_028343.1:n.1206_1209del, XM_047439080.1:c.1061_1064del, XM_047439086.1:c.827_830del, XM_047439081.1:c.953_956del, XM_047439089.1:c.674_677del, XM_047439090.1:c.611_614del, NP_001129510.2:p.His238fs, NP_060825.2:p.His238fs, NP_001157781.1:p.His238fs, XP_024307364.1:p.His315fs, NP_001339059.1:p.His315fs, NP_001339077.1:p.His225fs, NP_001339062.1:p.His286fs, XP_024307366.1:p.His315fs, NP_001339073.1:p.His238fs, XP_024307367.1:p.His315fs, NP_001339078.1:p.His225fs, NP_001317695.1:p.His286fs, NP_001339060.1:p.His315fs, NP_001339066.1:p.His274fs, XP_006723330.1:p.His315fs, NP_001339061.1:p.His286fs, NP_001339070.1:p.His250fs, NP_001339063.1:p.His286fs, XP_024307363.1:p.His361fs, XP_016882453.1:p.His238fs, NP_001339065.1:p.His274fs, NP_001339072.1:p.His238fs, XP_024307365.1:p.His315fs, NP_001339067.1:p.His250fs, NP_001339076.1:p.His225fs, NP_001339069.1:p.His250fs, NP_001339075.1:p.His238fs, NP_001339080.1:p.His8fs, NP_001339071.1:p.His238fs, XP_016882449.1:p.His286fs, NP_001339068.1:p.His250fs, NP_001339064.1:p.His284fs, NP_001317688.1:p.His8fs, XP_016882458.1:p.His209fs, NP_001339079.1:p.His8fs, XP_047295039.1:p.His286fs, XP_047295043.1:p.His274fs, XP_047295038.1:p.His315fs, XP_047295044.1:p.His250fs, XP_047295040.1:p.His286fs, XP_047295041.1:p.His286fs, XP_047295035.1:p.His395fs, XP_047295036.1:p.His354fs, XP_047295042.1:p.His276fs, XP_047295037.1:p.His318fs, XP_047295045.1:p.His225fs, XP_047295046.1:p.His204fs

              7.

              rs1479126151 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:53108710 (GRCh38)
                19:53611963 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53108709:A:G
                Gene:
                ZNF415 (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.53108710A>G, NC_000019.9:g.53611963A>G, NM_001136038.4:c.1335T>C, NM_001136038.3:c.1335T>C, NM_001136038.2:c.1335T>C, NM_018355.4:c.1335T>C, NM_018355.3:c.1335T>C, NM_001164309.3:c.1335T>C, NM_001164309.2:c.1335T>C, NM_001164309.1:c.1335T>C, XM_024451596.2:c.1566T>C, XM_024451596.1:c.1566T>C, NM_001352130.2:c.1566T>C, NM_001352130.1:c.1566T>C, NM_001352148.2:c.1296T>C, NM_001352148.1:c.1296T>C, NM_001352133.2:c.1479T>C, NM_001352133.1:c.1479T>C, XM_024451598.2:c.1566T>C, XM_024451598.1:c.1566T>C, NM_001352144.2:c.1335T>C, NM_001352144.1:c.1335T>C, XM_024451599.2:c.1566T>C, XM_024451599.1:c.1566T>C, NM_001352149.2:c.1296T>C, NM_001352149.1:c.1296T>C, NM_001330766.2:c.1479T>C, NM_001330766.1:c.1479T>C, NM_001352131.2:c.1566T>C, NM_001352131.1:c.1566T>C, NM_001352137.2:c.1443T>C, NM_001352137.1:c.1443T>C, XM_006723267.2:c.1566T>C, XM_006723267.1:c.1566T>C, NM_001352132.2:c.1479T>C, NM_001352132.1:c.1479T>C, NM_001352141.2:c.1371T>C, NM_001352141.1:c.1371T>C, NM_001352134.2:c.1479T>C, NM_001352134.1:c.1479T>C, XM_024451595.2:c.1704T>C, XM_024451595.1:c.1704T>C, XM_017026964.2:c.1335T>C, XM_017026964.1:c.1335T>C, NM_001352136.2:c.1443T>C, NM_001352136.1:c.1443T>C, NM_001352143.2:c.1335T>C, NM_001352143.1:c.1335T>C, XM_024451597.2:c.1566T>C, XM_024451597.1:c.1566T>C, NM_001352138.2:c.1371T>C, NM_001352138.1:c.1371T>C, NM_001352147.2:c.1296T>C, NM_001352147.1:c.1296T>C, NM_001352140.2:c.1371T>C, NM_001352140.1:c.1371T>C, NM_001352146.2:c.1335T>C, NM_001352146.1:c.1335T>C, NM_001352151.2:c.645T>C, NM_001352151.1:c.645T>C, NM_001352142.2:c.1335T>C, NM_001352142.1:c.1335T>C, XM_017026960.2:c.1479T>C, XM_017026960.1:c.1479T>C, NM_001352139.2:c.1371T>C, NM_001352139.1:c.1371T>C, NM_001352135.2:c.1473T>C, NM_001352135.1:c.1473T>C, NM_001330759.2:c.645T>C, NM_001330759.1:c.645T>C, XM_017026969.2:c.1248T>C, XM_017026969.1:c.1248T>C, NM_001352150.2:c.645T>C, NM_001352150.1:c.645T>C, XM_047439083.1:c.1479T>C, XM_047439087.1:c.1443T>C, XM_047439082.1:c.1566T>C, XM_047439088.1:c.1371T>C, XM_047439084.1:c.1479T>C, XM_047439085.1:c.1479T>C, XM_047439079.1:c.1806T>C, NR_028343.1:n.1828T>C, XM_047439080.1:c.1683T>C, XM_047439086.1:c.1449T>C, XM_047439081.1:c.1575T>C, XM_047439089.1:c.1296T>C, XM_047439090.1:c.1233T>C

                8.

                rs1478986313 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:53116327 (GRCh38)
                  19:53619580 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53116326:T:C
                  Gene:
                  ZNF415 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000019.10:g.53116327T>C, NC_000019.9:g.53619580T>C, NM_001136038.4:c.122A>G, NM_001136038.3:c.122A>G, NM_001136038.2:c.122A>G, NM_018355.4:c.122A>G, NM_018355.3:c.122A>G, NM_001164309.3:c.122A>G, NM_001164309.2:c.122A>G, NM_001164309.1:c.122A>G, XM_024451596.2:c.122A>G, XM_024451596.1:c.122A>G, NM_001352130.2:c.122A>G, NM_001352130.1:c.122A>G, NM_001352148.2:c.-139A>G, NM_001352148.1:c.-139A>G, NM_001352133.2:c.60A>G, NM_001352133.1:c.60A>G, XM_024451598.2:c.122A>G, XM_024451598.1:c.122A>G, NM_001352144.2:c.122A>G, NM_001352144.1:c.122A>G, XM_024451599.2:c.122A>G, XM_024451599.1:c.122A>G, NM_001352149.2:c.-139A>G, NM_001352149.1:c.-139A>G, NM_001330766.2:c.60A>G, NM_001330766.1:c.60A>G, NM_001352131.2:c.122A>G, NM_001352131.1:c.122A>G, NM_001352137.2:c.122A>G, NM_001352137.1:c.122A>G, XM_006723267.2:c.122A>G, XM_006723267.1:c.122A>G, NM_001352132.2:c.60A>G, NM_001352132.1:c.60A>G, NM_001352141.2:c.60A>G, NM_001352141.1:c.60A>G, NM_001352134.2:c.60A>G, NM_001352134.1:c.60A>G, XM_024451595.2:c.260A>G, XM_024451595.1:c.260A>G, XM_017026964.2:c.122A>G, XM_017026964.1:c.122A>G, NM_001352136.2:c.122A>G, NM_001352136.1:c.122A>G, NM_001352143.2:c.122A>G, NM_001352143.1:c.122A>G, XM_024451597.2:c.122A>G, XM_024451597.1:c.122A>G, NM_001352138.2:c.60A>G, NM_001352138.1:c.60A>G, NM_001352147.2:c.-139A>G, NM_001352147.1:c.-139A>G, NM_001352140.2:c.60A>G, NM_001352140.1:c.60A>G, NM_001352146.2:c.122A>G, NM_001352146.1:c.122A>G, NM_001352142.2:c.122A>G, NM_001352142.1:c.122A>G, XM_017026960.2:c.60A>G, XM_017026960.1:c.60A>G, NM_001352139.2:c.60A>G, NM_001352139.1:c.60A>G, NM_001352135.2:c.260A>G, NM_001352135.1:c.260A>G, XM_047439083.1:c.60A>G, XM_047439087.1:c.122A>G, XM_047439082.1:c.122A>G, XM_047439088.1:c.60A>G, XM_047439084.1:c.60A>G, XM_047439085.1:c.60A>G, XM_047439079.1:c.362A>G, NR_028343.1:n.409A>G, XM_047439080.1:c.362A>G, XM_047439086.1:c.-84A>G, XM_047439081.1:c.362A>G, XM_047439089.1:c.-139A>G, XM_047439090.1:c.20A>G, XM_047439091.1:c.362A>G, NP_001129510.2:p.Asn41Ser, NP_060825.2:p.Asn41Ser, NP_001157781.1:p.Asn41Ser, XP_024307364.1:p.Asn41Ser, NP_001339059.1:p.Asn41Ser, XP_024307366.1:p.Asn41Ser, NP_001339073.1:p.Asn41Ser, XP_024307367.1:p.Asn41Ser, NP_001339060.1:p.Asn41Ser, NP_001339066.1:p.Asn41Ser, XP_006723330.1:p.Asn41Ser, XP_024307363.1:p.Asn87Ser, XP_016882453.1:p.Asn41Ser, NP_001339065.1:p.Asn41Ser, NP_001339072.1:p.Asn41Ser, XP_024307365.1:p.Asn41Ser, NP_001339075.1:p.Asn41Ser, NP_001339071.1:p.Asn41Ser, NP_001339064.1:p.Asn87Ser, XP_047295043.1:p.Asn41Ser, XP_047295038.1:p.Asn41Ser, XP_047295035.1:p.Asn121Ser, XP_047295036.1:p.Asn121Ser, XP_047295037.1:p.Asn121Ser, XP_047295046.1:p.Asn7Ser, XP_047295047.1:p.Asn121Ser

                  9.

                  rs1478609976 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:53108983 (GRCh38)
                    19:53612236 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53108982:T:C
                    Gene:
                    ZNF415 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000047/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.53108983T>C, NC_000019.9:g.53612236T>C, NM_001136038.4:c.1062A>G, NM_001136038.3:c.1062A>G, NM_001136038.2:c.1062A>G, NM_018355.4:c.1062A>G, NM_018355.3:c.1062A>G, NM_001164309.3:c.1062A>G, NM_001164309.2:c.1062A>G, NM_001164309.1:c.1062A>G, XM_024451596.2:c.1293A>G, XM_024451596.1:c.1293A>G, NM_001352130.2:c.1293A>G, NM_001352130.1:c.1293A>G, NM_001352148.2:c.1023A>G, NM_001352148.1:c.1023A>G, NM_001352133.2:c.1206A>G, NM_001352133.1:c.1206A>G, XM_024451598.2:c.1293A>G, XM_024451598.1:c.1293A>G, NM_001352144.2:c.1062A>G, NM_001352144.1:c.1062A>G, XM_024451599.2:c.1293A>G, XM_024451599.1:c.1293A>G, NM_001352149.2:c.1023A>G, NM_001352149.1:c.1023A>G, NM_001330766.2:c.1206A>G, NM_001330766.1:c.1206A>G, NM_001352131.2:c.1293A>G, NM_001352131.1:c.1293A>G, NM_001352137.2:c.1170A>G, NM_001352137.1:c.1170A>G, XM_006723267.2:c.1293A>G, XM_006723267.1:c.1293A>G, NM_001352132.2:c.1206A>G, NM_001352132.1:c.1206A>G, NM_001352141.2:c.1098A>G, NM_001352141.1:c.1098A>G, NM_001352134.2:c.1206A>G, NM_001352134.1:c.1206A>G, XM_024451595.2:c.1431A>G, XM_024451595.1:c.1431A>G, XM_017026964.2:c.1062A>G, XM_017026964.1:c.1062A>G, NM_001352136.2:c.1170A>G, NM_001352136.1:c.1170A>G, NM_001352143.2:c.1062A>G, NM_001352143.1:c.1062A>G, XM_024451597.2:c.1293A>G, XM_024451597.1:c.1293A>G, NM_001352138.2:c.1098A>G, NM_001352138.1:c.1098A>G, NM_001352147.2:c.1023A>G, NM_001352147.1:c.1023A>G, NM_001352140.2:c.1098A>G, NM_001352140.1:c.1098A>G, NM_001352146.2:c.1062A>G, NM_001352146.1:c.1062A>G, NM_001352151.2:c.372A>G, NM_001352151.1:c.372A>G, NM_001352142.2:c.1062A>G, NM_001352142.1:c.1062A>G, XM_017026960.2:c.1206A>G, XM_017026960.1:c.1206A>G, NM_001352139.2:c.1098A>G, NM_001352139.1:c.1098A>G, NM_001352135.2:c.1200A>G, NM_001352135.1:c.1200A>G, NM_001330759.2:c.372A>G, NM_001330759.1:c.372A>G, XM_017026969.2:c.975A>G, XM_017026969.1:c.975A>G, NM_001352150.2:c.372A>G, NM_001352150.1:c.372A>G, XM_047439083.1:c.1206A>G, XM_047439087.1:c.1170A>G, XM_047439082.1:c.1293A>G, XM_047439088.1:c.1098A>G, XM_047439084.1:c.1206A>G, XM_047439085.1:c.1206A>G, XM_047439079.1:c.1533A>G, NR_028343.1:n.1555A>G, XM_047439080.1:c.1410A>G, XM_047439086.1:c.1176A>G, XM_047439081.1:c.1302A>G, XM_047439089.1:c.1023A>G, XM_047439090.1:c.960A>G

                    10.

                    rs1478457235 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:53108442 (GRCh38)
                      19:53611695 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53108441:C:T
                      Gene:
                      ZNF415 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000019.10:g.53108442C>T, NC_000019.9:g.53611695C>T, NM_001136038.4:c.1603G>A, NM_001136038.3:c.1603G>A, NM_001136038.2:c.1603G>A, NM_018355.4:c.1603G>A, NM_018355.3:c.1603G>A, NM_001164309.3:c.1603G>A, NM_001164309.2:c.1603G>A, NM_001164309.1:c.1603G>A, XM_024451596.2:c.1834G>A, XM_024451596.1:c.1834G>A, NM_001352130.2:c.1834G>A, NM_001352130.1:c.1834G>A, NM_001352148.2:c.1564G>A, NM_001352148.1:c.1564G>A, NM_001352133.2:c.1747G>A, NM_001352133.1:c.1747G>A, XM_024451598.2:c.1834G>A, XM_024451598.1:c.1834G>A, NM_001352144.2:c.1603G>A, NM_001352144.1:c.1603G>A, XM_024451599.2:c.1834G>A, XM_024451599.1:c.1834G>A, NM_001352149.2:c.1564G>A, NM_001352149.1:c.1564G>A, NM_001330766.2:c.1747G>A, NM_001330766.1:c.1747G>A, NM_001352131.2:c.1834G>A, NM_001352131.1:c.1834G>A, NM_001352137.2:c.1711G>A, NM_001352137.1:c.1711G>A, XM_006723267.2:c.1834G>A, XM_006723267.1:c.1834G>A, NM_001352132.2:c.1747G>A, NM_001352132.1:c.1747G>A, NM_001352141.2:c.1639G>A, NM_001352141.1:c.1639G>A, NM_001352134.2:c.1747G>A, NM_001352134.1:c.1747G>A, XM_024451595.2:c.1972G>A, XM_024451595.1:c.1972G>A, XM_017026964.2:c.1603G>A, XM_017026964.1:c.1603G>A, NM_001352136.2:c.1711G>A, NM_001352136.1:c.1711G>A, NM_001352143.2:c.1603G>A, NM_001352143.1:c.1603G>A, XM_024451597.2:c.1834G>A, XM_024451597.1:c.1834G>A, NM_001352138.2:c.1639G>A, NM_001352138.1:c.1639G>A, NM_001352147.2:c.1564G>A, NM_001352147.1:c.1564G>A, NM_001352140.2:c.1639G>A, NM_001352140.1:c.1639G>A, NM_001352146.2:c.1603G>A, NM_001352146.1:c.1603G>A, NM_001352151.2:c.913G>A, NM_001352151.1:c.913G>A, NM_001352142.2:c.1603G>A, NM_001352142.1:c.1603G>A, XM_017026960.2:c.1747G>A, XM_017026960.1:c.1747G>A, NM_001352139.2:c.1639G>A, NM_001352139.1:c.1639G>A, NM_001352135.2:c.1741G>A, NM_001352135.1:c.1741G>A, NM_001330759.2:c.913G>A, NM_001330759.1:c.913G>A, XM_017026969.2:c.1516G>A, XM_017026969.1:c.1516G>A, NM_001352150.2:c.913G>A, NM_001352150.1:c.913G>A, XM_047439083.1:c.1747G>A, XM_047439087.1:c.1711G>A, XM_047439082.1:c.1834G>A, XM_047439088.1:c.1639G>A, XM_047439084.1:c.1747G>A, XM_047439085.1:c.1747G>A, XM_047439079.1:c.2074G>A, NR_028343.1:n.2096G>A, XM_047439080.1:c.1951G>A, XM_047439086.1:c.1717G>A, XM_047439081.1:c.1843G>A, XM_047439089.1:c.1564G>A, XM_047439090.1:c.1501G>A, NP_001129510.2:p.Val535Met, NP_060825.2:p.Val535Met, NP_001157781.1:p.Val535Met, XP_024307364.1:p.Val612Met, NP_001339059.1:p.Val612Met, NP_001339077.1:p.Val522Met, NP_001339062.1:p.Val583Met, XP_024307366.1:p.Val612Met, NP_001339073.1:p.Val535Met, XP_024307367.1:p.Val612Met, NP_001339078.1:p.Val522Met, NP_001317695.1:p.Val583Met, NP_001339060.1:p.Val612Met, NP_001339066.1:p.Val571Met, XP_006723330.1:p.Val612Met, NP_001339061.1:p.Val583Met, NP_001339070.1:p.Val547Met, NP_001339063.1:p.Val583Met, XP_024307363.1:p.Val658Met, XP_016882453.1:p.Val535Met, NP_001339065.1:p.Val571Met, NP_001339072.1:p.Val535Met, XP_024307365.1:p.Val612Met, NP_001339067.1:p.Val547Met, NP_001339076.1:p.Val522Met, NP_001339069.1:p.Val547Met, NP_001339075.1:p.Val535Met, NP_001339080.1:p.Val305Met, NP_001339071.1:p.Val535Met, XP_016882449.1:p.Val583Met, NP_001339068.1:p.Val547Met, NP_001339064.1:p.Val581Met, NP_001317688.1:p.Val305Met, XP_016882458.1:p.Val506Met, NP_001339079.1:p.Val305Met, XP_047295039.1:p.Val583Met, XP_047295043.1:p.Val571Met, XP_047295038.1:p.Val612Met, XP_047295044.1:p.Val547Met, XP_047295040.1:p.Val583Met, XP_047295041.1:p.Val583Met, XP_047295035.1:p.Val692Met, XP_047295036.1:p.Val651Met, XP_047295042.1:p.Val573Met, XP_047295037.1:p.Val615Met, XP_047295045.1:p.Val522Met, XP_047295046.1:p.Val501Met

                      11.

                      rs1478282559 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        19:53108608 (GRCh38)
                        19:53611861 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53108607:C:A
                        Gene:
                        ZNF415 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_downstream_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)
                        A=0.000042/11 (TOPMED)
                        HGVS:
                        NC_000019.10:g.53108608C>A, NC_000019.9:g.53611861C>A, NM_001136038.4:c.1437G>T, NM_001136038.3:c.1437G>T, NM_001136038.2:c.1437G>T, NM_018355.4:c.1437G>T, NM_018355.3:c.1437G>T, NM_001164309.3:c.1437G>T, NM_001164309.2:c.1437G>T, NM_001164309.1:c.1437G>T, XM_024451596.2:c.1668G>T, XM_024451596.1:c.1668G>T, NM_001352130.2:c.1668G>T, NM_001352130.1:c.1668G>T, NM_001352148.2:c.1398G>T, NM_001352148.1:c.1398G>T, NM_001352133.2:c.1581G>T, NM_001352133.1:c.1581G>T, XM_024451598.2:c.1668G>T, XM_024451598.1:c.1668G>T, NM_001352144.2:c.1437G>T, NM_001352144.1:c.1437G>T, XM_024451599.2:c.1668G>T, XM_024451599.1:c.1668G>T, NM_001352149.2:c.1398G>T, NM_001352149.1:c.1398G>T, NM_001330766.2:c.1581G>T, NM_001330766.1:c.1581G>T, NM_001352131.2:c.1668G>T, NM_001352131.1:c.1668G>T, NM_001352137.2:c.1545G>T, NM_001352137.1:c.1545G>T, XM_006723267.2:c.1668G>T, XM_006723267.1:c.1668G>T, NM_001352132.2:c.1581G>T, NM_001352132.1:c.1581G>T, NM_001352141.2:c.1473G>T, NM_001352141.1:c.1473G>T, NM_001352134.2:c.1581G>T, NM_001352134.1:c.1581G>T, XM_024451595.2:c.1806G>T, XM_024451595.1:c.1806G>T, XM_017026964.2:c.1437G>T, XM_017026964.1:c.1437G>T, NM_001352136.2:c.1545G>T, NM_001352136.1:c.1545G>T, NM_001352143.2:c.1437G>T, NM_001352143.1:c.1437G>T, XM_024451597.2:c.1668G>T, XM_024451597.1:c.1668G>T, NM_001352138.2:c.1473G>T, NM_001352138.1:c.1473G>T, NM_001352147.2:c.1398G>T, NM_001352147.1:c.1398G>T, NM_001352140.2:c.1473G>T, NM_001352140.1:c.1473G>T, NM_001352146.2:c.1437G>T, NM_001352146.1:c.1437G>T, NM_001352151.2:c.747G>T, NM_001352151.1:c.747G>T, NM_001352142.2:c.1437G>T, NM_001352142.1:c.1437G>T, XM_017026960.2:c.1581G>T, XM_017026960.1:c.1581G>T, NM_001352139.2:c.1473G>T, NM_001352139.1:c.1473G>T, NM_001352135.2:c.1575G>T, NM_001352135.1:c.1575G>T, NM_001330759.2:c.747G>T, NM_001330759.1:c.747G>T, XM_017026969.2:c.1350G>T, XM_017026969.1:c.1350G>T, NM_001352150.2:c.747G>T, NM_001352150.1:c.747G>T, XM_047439083.1:c.1581G>T, XM_047439087.1:c.1545G>T, XM_047439082.1:c.1668G>T, XM_047439088.1:c.1473G>T, XM_047439084.1:c.1581G>T, XM_047439085.1:c.1581G>T, XM_047439079.1:c.1908G>T, NR_028343.1:n.1930G>T, XM_047439080.1:c.1785G>T, XM_047439086.1:c.1551G>T, XM_047439081.1:c.1677G>T, XM_047439089.1:c.1398G>T, XM_047439090.1:c.1335G>T

                        12.

                        rs1475346568 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          19:53109700 (GRCh38)
                          19:53612953 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53109699:TTTT:TTT
                          Gene:
                          ZNF415 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.53109703del, NC_000019.9:g.53612956del, NM_001136038.4:c.345del, NM_001136038.3:c.345del, NM_001136038.2:c.345del, NM_018355.4:c.345del, NM_018355.3:c.345del, NM_001164309.3:c.345del, NM_001164309.2:c.345del, NM_001164309.1:c.345del, XM_024451596.2:c.576del, XM_024451596.1:c.576del, NM_001352130.2:c.576del, NM_001352130.1:c.576del, NM_001352148.2:c.306del, NM_001352148.1:c.306del, NM_001352133.2:c.489del, NM_001352133.1:c.489del, XM_024451598.2:c.576del, XM_024451598.1:c.576del, NM_001352144.2:c.345del, NM_001352144.1:c.345del, XM_024451599.2:c.576del, XM_024451599.1:c.576del, NM_001352149.2:c.306del, NM_001352149.1:c.306del, NM_001330766.2:c.489del, NM_001330766.1:c.489del, NM_001352131.2:c.576del, NM_001352131.1:c.576del, NM_001352137.2:c.453del, NM_001352137.1:c.453del, XM_006723267.2:c.576del, XM_006723267.1:c.576del, NM_001352132.2:c.489del, NM_001352132.1:c.489del, NM_001352141.2:c.381del, NM_001352141.1:c.381del, NM_001352134.2:c.489del, NM_001352134.1:c.489del, XM_024451595.2:c.714del, XM_024451595.1:c.714del, XM_017026964.2:c.345del, XM_017026964.1:c.345del, NM_001352136.2:c.453del, NM_001352136.1:c.453del, NM_001352143.2:c.345del, NM_001352143.1:c.345del, XM_024451597.2:c.576del, XM_024451597.1:c.576del, NM_001352138.2:c.381del, NM_001352138.1:c.381del, NM_001352147.2:c.306del, NM_001352147.1:c.306del, NM_001352140.2:c.381del, NM_001352140.1:c.381del, NM_001352146.2:c.345del, NM_001352146.1:c.345del, NM_001352151.2:c.-346del, NM_001352151.1:c.-346del, NM_001352142.2:c.345del, NM_001352142.1:c.345del, XM_017026960.2:c.489del, XM_017026960.1:c.489del, NM_001352139.2:c.381del, NM_001352139.1:c.381del, NM_001352135.2:c.483del, NM_001352135.1:c.483del, NM_001330759.2:c.-346del, NM_001330759.1:c.-346del, XM_017026969.2:c.258del, XM_017026969.1:c.258del, NM_001352150.2:c.-346del, NM_001352150.1:c.-346del, XM_047439083.1:c.489del, XM_047439087.1:c.453del, XM_047439082.1:c.576del, XM_047439088.1:c.381del, XM_047439084.1:c.489del, XM_047439085.1:c.489del, XM_047439079.1:c.816del, NR_028343.1:n.838del, XM_047439080.1:c.693del, XM_047439086.1:c.459del, XM_047439081.1:c.585del, XM_047439089.1:c.306del, XM_047439090.1:c.243del, NP_001129510.2:p.Glu116fs, NP_060825.2:p.Glu116fs, NP_001157781.1:p.Glu116fs, XP_024307364.1:p.Glu193fs, NP_001339059.1:p.Glu193fs, NP_001339077.1:p.Glu103fs, NP_001339062.1:p.Glu164fs, XP_024307366.1:p.Glu193fs, NP_001339073.1:p.Glu116fs, XP_024307367.1:p.Glu193fs, NP_001339078.1:p.Glu103fs, NP_001317695.1:p.Glu164fs, NP_001339060.1:p.Glu193fs, NP_001339066.1:p.Glu152fs, XP_006723330.1:p.Glu193fs, NP_001339061.1:p.Glu164fs, NP_001339070.1:p.Glu128fs, NP_001339063.1:p.Glu164fs, XP_024307363.1:p.Glu239fs, XP_016882453.1:p.Glu116fs, NP_001339065.1:p.Glu152fs, NP_001339072.1:p.Glu116fs, XP_024307365.1:p.Glu193fs, NP_001339067.1:p.Glu128fs, NP_001339076.1:p.Glu103fs, NP_001339069.1:p.Glu128fs, NP_001339075.1:p.Glu116fs, NP_001339071.1:p.Glu116fs, XP_016882449.1:p.Glu164fs, NP_001339068.1:p.Glu128fs, NP_001339064.1:p.Glu162fs, XP_016882458.1:p.Glu87fs, XP_047295039.1:p.Glu164fs, XP_047295043.1:p.Glu152fs, XP_047295038.1:p.Glu193fs, XP_047295044.1:p.Glu128fs, XP_047295040.1:p.Glu164fs, XP_047295041.1:p.Glu164fs, XP_047295035.1:p.Glu273fs, XP_047295036.1:p.Glu232fs, XP_047295042.1:p.Glu154fs, XP_047295037.1:p.Glu196fs, XP_047295045.1:p.Glu103fs, XP_047295046.1:p.Glu82fs

                          13.

                          rs1474785427 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            19:53115289 (GRCh38)
                            19:53618542 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53115288:T:G
                            Gene:
                            ZNF415 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                            HGVS:
                            NC_000019.10:g.53115289T>G, NC_000019.9:g.53618542T>G, XM_024451596.2:c.288A>C, XM_024451596.1:c.288A>C, NM_001352130.2:c.288A>C, NM_001352130.1:c.288A>C, NM_001352133.2:c.201A>C, NM_001352133.1:c.201A>C, XM_024451598.2:c.288A>C, XM_024451598.1:c.288A>C, XM_024451599.2:c.288A>C, XM_024451599.1:c.288A>C, NM_001330766.2:c.201A>C, NM_001330766.1:c.201A>C, NM_001352131.2:c.288A>C, NM_001352131.1:c.288A>C, XM_006723267.2:c.288A>C, XM_006723267.1:c.288A>C, NM_001352132.2:c.201A>C, NM_001352132.1:c.201A>C, NM_001352141.2:c.93A>C, NM_001352141.1:c.93A>C, NM_001352134.2:c.201A>C, NM_001352134.1:c.201A>C, XM_024451595.2:c.426A>C, XM_024451595.1:c.426A>C, XM_024451597.2:c.288A>C, XM_024451597.1:c.288A>C, NM_001352138.2:c.93A>C, NM_001352138.1:c.93A>C, NM_001352140.2:c.93A>C, NM_001352140.1:c.93A>C, XM_017026960.2:c.201A>C, XM_017026960.1:c.201A>C, NM_001352139.2:c.93A>C, NM_001352139.1:c.93A>C, XM_047439083.1:c.201A>C, XM_047439082.1:c.288A>C, XM_047439088.1:c.93A>C, XM_047439084.1:c.201A>C, XM_047439085.1:c.201A>C, XM_047439079.1:c.528A>C, NR_028343.1:n.550A>C, XM_047439086.1:c.171A>C

                            14.

                            rs1474425565 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:53109420 (GRCh38)
                              19:53612673 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53109419:A:G
                              Gene:
                              ZNF415 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000019.10:g.53109420A>G, NC_000019.9:g.53612673A>G, NM_001136038.4:c.625T>C, NM_001136038.3:c.625T>C, NM_001136038.2:c.625T>C, NM_018355.4:c.625T>C, NM_018355.3:c.625T>C, NM_001164309.3:c.625T>C, NM_001164309.2:c.625T>C, NM_001164309.1:c.625T>C, XM_024451596.2:c.856T>C, XM_024451596.1:c.856T>C, NM_001352130.2:c.856T>C, NM_001352130.1:c.856T>C, NM_001352148.2:c.586T>C, NM_001352148.1:c.586T>C, NM_001352133.2:c.769T>C, NM_001352133.1:c.769T>C, XM_024451598.2:c.856T>C, XM_024451598.1:c.856T>C, NM_001352144.2:c.625T>C, NM_001352144.1:c.625T>C, XM_024451599.2:c.856T>C, XM_024451599.1:c.856T>C, NM_001352149.2:c.586T>C, NM_001352149.1:c.586T>C, NM_001330766.2:c.769T>C, NM_001330766.1:c.769T>C, NM_001352131.2:c.856T>C, NM_001352131.1:c.856T>C, NM_001352137.2:c.733T>C, NM_001352137.1:c.733T>C, XM_006723267.2:c.856T>C, XM_006723267.1:c.856T>C, NM_001352132.2:c.769T>C, NM_001352132.1:c.769T>C, NM_001352141.2:c.661T>C, NM_001352141.1:c.661T>C, NM_001352134.2:c.769T>C, NM_001352134.1:c.769T>C, XM_024451595.2:c.994T>C, XM_024451595.1:c.994T>C, XM_017026964.2:c.625T>C, XM_017026964.1:c.625T>C, NM_001352136.2:c.733T>C, NM_001352136.1:c.733T>C, NM_001352143.2:c.625T>C, NM_001352143.1:c.625T>C, XM_024451597.2:c.856T>C, XM_024451597.1:c.856T>C, NM_001352138.2:c.661T>C, NM_001352138.1:c.661T>C, NM_001352147.2:c.586T>C, NM_001352147.1:c.586T>C, NM_001352140.2:c.661T>C, NM_001352140.1:c.661T>C, NM_001352146.2:c.625T>C, NM_001352146.1:c.625T>C, NM_001352151.2:c.-66T>C, NM_001352151.1:c.-66T>C, NM_001352142.2:c.625T>C, NM_001352142.1:c.625T>C, XM_017026960.2:c.769T>C, XM_017026960.1:c.769T>C, NM_001352139.2:c.661T>C, NM_001352139.1:c.661T>C, NM_001352135.2:c.763T>C, NM_001352135.1:c.763T>C, NM_001330759.2:c.-66T>C, NM_001330759.1:c.-66T>C, XM_017026969.2:c.538T>C, XM_017026969.1:c.538T>C, NM_001352150.2:c.-66T>C, NM_001352150.1:c.-66T>C, XM_047439083.1:c.769T>C, XM_047439087.1:c.733T>C, XM_047439082.1:c.856T>C, XM_047439088.1:c.661T>C, XM_047439084.1:c.769T>C, XM_047439085.1:c.769T>C, XM_047439079.1:c.1096T>C, NR_028343.1:n.1118T>C, XM_047439080.1:c.973T>C, XM_047439086.1:c.739T>C, XM_047439081.1:c.865T>C, XM_047439089.1:c.586T>C, XM_047439090.1:c.523T>C, NP_001129510.2:p.Ser209Pro, NP_060825.2:p.Ser209Pro, NP_001157781.1:p.Ser209Pro, XP_024307364.1:p.Ser286Pro, NP_001339059.1:p.Ser286Pro, NP_001339077.1:p.Ser196Pro, NP_001339062.1:p.Ser257Pro, XP_024307366.1:p.Ser286Pro, NP_001339073.1:p.Ser209Pro, XP_024307367.1:p.Ser286Pro, NP_001339078.1:p.Ser196Pro, NP_001317695.1:p.Ser257Pro, NP_001339060.1:p.Ser286Pro, NP_001339066.1:p.Ser245Pro, XP_006723330.1:p.Ser286Pro, NP_001339061.1:p.Ser257Pro, NP_001339070.1:p.Ser221Pro, NP_001339063.1:p.Ser257Pro, XP_024307363.1:p.Ser332Pro, XP_016882453.1:p.Ser209Pro, NP_001339065.1:p.Ser245Pro, NP_001339072.1:p.Ser209Pro, XP_024307365.1:p.Ser286Pro, NP_001339067.1:p.Ser221Pro, NP_001339076.1:p.Ser196Pro, NP_001339069.1:p.Ser221Pro, NP_001339075.1:p.Ser209Pro, NP_001339071.1:p.Ser209Pro, XP_016882449.1:p.Ser257Pro, NP_001339068.1:p.Ser221Pro, NP_001339064.1:p.Ser255Pro, XP_016882458.1:p.Ser180Pro, XP_047295039.1:p.Ser257Pro, XP_047295043.1:p.Ser245Pro, XP_047295038.1:p.Ser286Pro, XP_047295044.1:p.Ser221Pro, XP_047295040.1:p.Ser257Pro, XP_047295041.1:p.Ser257Pro, XP_047295035.1:p.Ser366Pro, XP_047295036.1:p.Ser325Pro, XP_047295042.1:p.Ser247Pro, XP_047295037.1:p.Ser289Pro, XP_047295045.1:p.Ser196Pro, XP_047295046.1:p.Ser175Pro

                              15.

                              rs1473706490 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:53109468 (GRCh38)
                                19:53612721 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53109467:A:G
                                Gene:
                                ZNF415 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000019.10:g.53109468A>G, NC_000019.9:g.53612721A>G, NM_001136038.4:c.577T>C, NM_001136038.3:c.577T>C, NM_001136038.2:c.577T>C, NM_018355.4:c.577T>C, NM_018355.3:c.577T>C, NM_001164309.3:c.577T>C, NM_001164309.2:c.577T>C, NM_001164309.1:c.577T>C, XM_024451596.2:c.808T>C, XM_024451596.1:c.808T>C, NM_001352130.2:c.808T>C, NM_001352130.1:c.808T>C, NM_001352148.2:c.538T>C, NM_001352148.1:c.538T>C, NM_001352133.2:c.721T>C, NM_001352133.1:c.721T>C, XM_024451598.2:c.808T>C, XM_024451598.1:c.808T>C, NM_001352144.2:c.577T>C, NM_001352144.1:c.577T>C, XM_024451599.2:c.808T>C, XM_024451599.1:c.808T>C, NM_001352149.2:c.538T>C, NM_001352149.1:c.538T>C, NM_001330766.2:c.721T>C, NM_001330766.1:c.721T>C, NM_001352131.2:c.808T>C, NM_001352131.1:c.808T>C, NM_001352137.2:c.685T>C, NM_001352137.1:c.685T>C, XM_006723267.2:c.808T>C, XM_006723267.1:c.808T>C, NM_001352132.2:c.721T>C, NM_001352132.1:c.721T>C, NM_001352141.2:c.613T>C, NM_001352141.1:c.613T>C, NM_001352134.2:c.721T>C, NM_001352134.1:c.721T>C, XM_024451595.2:c.946T>C, XM_024451595.1:c.946T>C, XM_017026964.2:c.577T>C, XM_017026964.1:c.577T>C, NM_001352136.2:c.685T>C, NM_001352136.1:c.685T>C, NM_001352143.2:c.577T>C, NM_001352143.1:c.577T>C, XM_024451597.2:c.808T>C, XM_024451597.1:c.808T>C, NM_001352138.2:c.613T>C, NM_001352138.1:c.613T>C, NM_001352147.2:c.538T>C, NM_001352147.1:c.538T>C, NM_001352140.2:c.613T>C, NM_001352140.1:c.613T>C, NM_001352146.2:c.577T>C, NM_001352146.1:c.577T>C, NM_001352151.2:c.-114T>C, NM_001352151.1:c.-114T>C, NM_001352142.2:c.577T>C, NM_001352142.1:c.577T>C, XM_017026960.2:c.721T>C, XM_017026960.1:c.721T>C, NM_001352139.2:c.613T>C, NM_001352139.1:c.613T>C, NM_001352135.2:c.715T>C, NM_001352135.1:c.715T>C, NM_001330759.2:c.-114T>C, NM_001330759.1:c.-114T>C, XM_017026969.2:c.490T>C, XM_017026969.1:c.490T>C, NM_001352150.2:c.-114T>C, NM_001352150.1:c.-114T>C, XM_047439083.1:c.721T>C, XM_047439087.1:c.685T>C, XM_047439082.1:c.808T>C, XM_047439088.1:c.613T>C, XM_047439084.1:c.721T>C, XM_047439085.1:c.721T>C, XM_047439079.1:c.1048T>C, NR_028343.1:n.1070T>C, XM_047439080.1:c.925T>C, XM_047439086.1:c.691T>C, XM_047439081.1:c.817T>C, XM_047439089.1:c.538T>C, XM_047439090.1:c.475T>C, NP_001129510.2:p.Tyr193His, NP_060825.2:p.Tyr193His, NP_001157781.1:p.Tyr193His, XP_024307364.1:p.Tyr270His, NP_001339059.1:p.Tyr270His, NP_001339077.1:p.Tyr180His, NP_001339062.1:p.Tyr241His, XP_024307366.1:p.Tyr270His, NP_001339073.1:p.Tyr193His, XP_024307367.1:p.Tyr270His, NP_001339078.1:p.Tyr180His, NP_001317695.1:p.Tyr241His, NP_001339060.1:p.Tyr270His, NP_001339066.1:p.Tyr229His, XP_006723330.1:p.Tyr270His, NP_001339061.1:p.Tyr241His, NP_001339070.1:p.Tyr205His, NP_001339063.1:p.Tyr241His, XP_024307363.1:p.Tyr316His, XP_016882453.1:p.Tyr193His, NP_001339065.1:p.Tyr229His, NP_001339072.1:p.Tyr193His, XP_024307365.1:p.Tyr270His, NP_001339067.1:p.Tyr205His, NP_001339076.1:p.Tyr180His, NP_001339069.1:p.Tyr205His, NP_001339075.1:p.Tyr193His, NP_001339071.1:p.Tyr193His, XP_016882449.1:p.Tyr241His, NP_001339068.1:p.Tyr205His, NP_001339064.1:p.Tyr239His, XP_016882458.1:p.Tyr164His, XP_047295039.1:p.Tyr241His, XP_047295043.1:p.Tyr229His, XP_047295038.1:p.Tyr270His, XP_047295044.1:p.Tyr205His, XP_047295040.1:p.Tyr241His, XP_047295041.1:p.Tyr241His, XP_047295035.1:p.Tyr350His, XP_047295036.1:p.Tyr309His, XP_047295042.1:p.Tyr231His, XP_047295037.1:p.Tyr273His, XP_047295045.1:p.Tyr180His, XP_047295046.1:p.Tyr159His

                                16.

                                rs1472805126 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  19:53108907 (GRCh38)
                                  19:53612160 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53108906:C:A
                                  Gene:
                                  ZNF415 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.53108907C>A, NC_000019.9:g.53612160C>A, NM_001136038.4:c.1138G>T, NM_001136038.3:c.1138G>T, NM_001136038.2:c.1138G>T, NM_018355.4:c.1138G>T, NM_018355.3:c.1138G>T, NM_001164309.3:c.1138G>T, NM_001164309.2:c.1138G>T, NM_001164309.1:c.1138G>T, XM_024451596.2:c.1369G>T, XM_024451596.1:c.1369G>T, NM_001352130.2:c.1369G>T, NM_001352130.1:c.1369G>T, NM_001352148.2:c.1099G>T, NM_001352148.1:c.1099G>T, NM_001352133.2:c.1282G>T, NM_001352133.1:c.1282G>T, XM_024451598.2:c.1369G>T, XM_024451598.1:c.1369G>T, NM_001352144.2:c.1138G>T, NM_001352144.1:c.1138G>T, XM_024451599.2:c.1369G>T, XM_024451599.1:c.1369G>T, NM_001352149.2:c.1099G>T, NM_001352149.1:c.1099G>T, NM_001330766.2:c.1282G>T, NM_001330766.1:c.1282G>T, NM_001352131.2:c.1369G>T, NM_001352131.1:c.1369G>T, NM_001352137.2:c.1246G>T, NM_001352137.1:c.1246G>T, XM_006723267.2:c.1369G>T, XM_006723267.1:c.1369G>T, NM_001352132.2:c.1282G>T, NM_001352132.1:c.1282G>T, NM_001352141.2:c.1174G>T, NM_001352141.1:c.1174G>T, NM_001352134.2:c.1282G>T, NM_001352134.1:c.1282G>T, XM_024451595.2:c.1507G>T, XM_024451595.1:c.1507G>T, XM_017026964.2:c.1138G>T, XM_017026964.1:c.1138G>T, NM_001352136.2:c.1246G>T, NM_001352136.1:c.1246G>T, NM_001352143.2:c.1138G>T, NM_001352143.1:c.1138G>T, XM_024451597.2:c.1369G>T, XM_024451597.1:c.1369G>T, NM_001352138.2:c.1174G>T, NM_001352138.1:c.1174G>T, NM_001352147.2:c.1099G>T, NM_001352147.1:c.1099G>T, NM_001352140.2:c.1174G>T, NM_001352140.1:c.1174G>T, NM_001352146.2:c.1138G>T, NM_001352146.1:c.1138G>T, NM_001352151.2:c.448G>T, NM_001352151.1:c.448G>T, NM_001352142.2:c.1138G>T, NM_001352142.1:c.1138G>T, XM_017026960.2:c.1282G>T, XM_017026960.1:c.1282G>T, NM_001352139.2:c.1174G>T, NM_001352139.1:c.1174G>T, NM_001352135.2:c.1276G>T, NM_001352135.1:c.1276G>T, NM_001330759.2:c.448G>T, NM_001330759.1:c.448G>T, XM_017026969.2:c.1051G>T, XM_017026969.1:c.1051G>T, NM_001352150.2:c.448G>T, NM_001352150.1:c.448G>T, XM_047439083.1:c.1282G>T, XM_047439087.1:c.1246G>T, XM_047439082.1:c.1369G>T, XM_047439088.1:c.1174G>T, XM_047439084.1:c.1282G>T, XM_047439085.1:c.1282G>T, XM_047439079.1:c.1609G>T, NR_028343.1:n.1631G>T, XM_047439080.1:c.1486G>T, XM_047439086.1:c.1252G>T, XM_047439081.1:c.1378G>T, XM_047439089.1:c.1099G>T, XM_047439090.1:c.1036G>T, NP_001129510.2:p.Gly380Trp, NP_060825.2:p.Gly380Trp, NP_001157781.1:p.Gly380Trp, XP_024307364.1:p.Gly457Trp, NP_001339059.1:p.Gly457Trp, NP_001339077.1:p.Gly367Trp, NP_001339062.1:p.Gly428Trp, XP_024307366.1:p.Gly457Trp, NP_001339073.1:p.Gly380Trp, XP_024307367.1:p.Gly457Trp, NP_001339078.1:p.Gly367Trp, NP_001317695.1:p.Gly428Trp, NP_001339060.1:p.Gly457Trp, NP_001339066.1:p.Gly416Trp, XP_006723330.1:p.Gly457Trp, NP_001339061.1:p.Gly428Trp, NP_001339070.1:p.Gly392Trp, NP_001339063.1:p.Gly428Trp, XP_024307363.1:p.Gly503Trp, XP_016882453.1:p.Gly380Trp, NP_001339065.1:p.Gly416Trp, NP_001339072.1:p.Gly380Trp, XP_024307365.1:p.Gly457Trp, NP_001339067.1:p.Gly392Trp, NP_001339076.1:p.Gly367Trp, NP_001339069.1:p.Gly392Trp, NP_001339075.1:p.Gly380Trp, NP_001339080.1:p.Gly150Trp, NP_001339071.1:p.Gly380Trp, XP_016882449.1:p.Gly428Trp, NP_001339068.1:p.Gly392Trp, NP_001339064.1:p.Gly426Trp, NP_001317688.1:p.Gly150Trp, XP_016882458.1:p.Gly351Trp, NP_001339079.1:p.Gly150Trp, XP_047295039.1:p.Gly428Trp, XP_047295043.1:p.Gly416Trp, XP_047295038.1:p.Gly457Trp, XP_047295044.1:p.Gly392Trp, XP_047295040.1:p.Gly428Trp, XP_047295041.1:p.Gly428Trp, XP_047295035.1:p.Gly537Trp, XP_047295036.1:p.Gly496Trp, XP_047295042.1:p.Gly418Trp, XP_047295037.1:p.Gly460Trp, XP_047295045.1:p.Gly367Trp, XP_047295046.1:p.Gly346Trp

                                  17.

                                  rs1471736313 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:53115284 (GRCh38)
                                    19:53618537 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53115283:G:A
                                    Gene:
                                    ZNF415 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.53115284G>A, NC_000019.9:g.53618537G>A, XM_024451596.2:c.293C>T, XM_024451596.1:c.293C>T, NM_001352130.2:c.293C>T, NM_001352130.1:c.293C>T, NM_001352133.2:c.206C>T, NM_001352133.1:c.206C>T, XM_024451598.2:c.293C>T, XM_024451598.1:c.293C>T, XM_024451599.2:c.293C>T, XM_024451599.1:c.293C>T, NM_001330766.2:c.206C>T, NM_001330766.1:c.206C>T, NM_001352131.2:c.293C>T, NM_001352131.1:c.293C>T, XM_006723267.2:c.293C>T, XM_006723267.1:c.293C>T, NM_001352132.2:c.206C>T, NM_001352132.1:c.206C>T, NM_001352141.2:c.98C>T, NM_001352141.1:c.98C>T, NM_001352134.2:c.206C>T, NM_001352134.1:c.206C>T, XM_024451595.2:c.431C>T, XM_024451595.1:c.431C>T, XM_024451597.2:c.293C>T, XM_024451597.1:c.293C>T, NM_001352138.2:c.98C>T, NM_001352138.1:c.98C>T, NM_001352140.2:c.98C>T, NM_001352140.1:c.98C>T, XM_017026960.2:c.206C>T, XM_017026960.1:c.206C>T, NM_001352139.2:c.98C>T, NM_001352139.1:c.98C>T, XM_047439083.1:c.206C>T, XM_047439082.1:c.293C>T, XM_047439088.1:c.98C>T, XM_047439084.1:c.206C>T, XM_047439085.1:c.206C>T, XM_047439079.1:c.533C>T, NR_028343.1:n.555C>T, XM_047439086.1:c.176C>T, XP_024307364.1:p.Ser98Leu, NP_001339059.1:p.Ser98Leu, NP_001339062.1:p.Ser69Leu, XP_024307366.1:p.Ser98Leu, XP_024307367.1:p.Ser98Leu, NP_001317695.1:p.Ser69Leu, NP_001339060.1:p.Ser98Leu, XP_006723330.1:p.Ser98Leu, NP_001339061.1:p.Ser69Leu, NP_001339070.1:p.Ser33Leu, NP_001339063.1:p.Ser69Leu, XP_024307363.1:p.Ser144Leu, XP_024307365.1:p.Ser98Leu, NP_001339067.1:p.Ser33Leu, NP_001339069.1:p.Ser33Leu, XP_016882449.1:p.Ser69Leu, NP_001339068.1:p.Ser33Leu, XP_047295039.1:p.Ser69Leu, XP_047295038.1:p.Ser98Leu, XP_047295044.1:p.Ser33Leu, XP_047295040.1:p.Ser69Leu, XP_047295041.1:p.Ser69Leu, XP_047295035.1:p.Ser178Leu, XP_047295042.1:p.Ser59Leu

                                    18.

                                    rs1469601040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      19:53109505 (GRCh38)
                                      19:53612758 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53109504:T:C
                                      Gene:
                                      ZNF415 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.53109505T>C, NC_000019.9:g.53612758T>C, NM_001136038.4:c.540A>G, NM_001136038.3:c.540A>G, NM_001136038.2:c.540A>G, NM_018355.4:c.540A>G, NM_018355.3:c.540A>G, NM_001164309.3:c.540A>G, NM_001164309.2:c.540A>G, NM_001164309.1:c.540A>G, XM_024451596.2:c.771A>G, XM_024451596.1:c.771A>G, NM_001352130.2:c.771A>G, NM_001352130.1:c.771A>G, NM_001352148.2:c.501A>G, NM_001352148.1:c.501A>G, NM_001352133.2:c.684A>G, NM_001352133.1:c.684A>G, XM_024451598.2:c.771A>G, XM_024451598.1:c.771A>G, NM_001352144.2:c.540A>G, NM_001352144.1:c.540A>G, XM_024451599.2:c.771A>G, XM_024451599.1:c.771A>G, NM_001352149.2:c.501A>G, NM_001352149.1:c.501A>G, NM_001330766.2:c.684A>G, NM_001330766.1:c.684A>G, NM_001352131.2:c.771A>G, NM_001352131.1:c.771A>G, NM_001352137.2:c.648A>G, NM_001352137.1:c.648A>G, XM_006723267.2:c.771A>G, XM_006723267.1:c.771A>G, NM_001352132.2:c.684A>G, NM_001352132.1:c.684A>G, NM_001352141.2:c.576A>G, NM_001352141.1:c.576A>G, NM_001352134.2:c.684A>G, NM_001352134.1:c.684A>G, XM_024451595.2:c.909A>G, XM_024451595.1:c.909A>G, XM_017026964.2:c.540A>G, XM_017026964.1:c.540A>G, NM_001352136.2:c.648A>G, NM_001352136.1:c.648A>G, NM_001352143.2:c.540A>G, NM_001352143.1:c.540A>G, XM_024451597.2:c.771A>G, XM_024451597.1:c.771A>G, NM_001352138.2:c.576A>G, NM_001352138.1:c.576A>G, NM_001352147.2:c.501A>G, NM_001352147.1:c.501A>G, NM_001352140.2:c.576A>G, NM_001352140.1:c.576A>G, NM_001352146.2:c.540A>G, NM_001352146.1:c.540A>G, NM_001352151.2:c.-151A>G, NM_001352151.1:c.-151A>G, NM_001352142.2:c.540A>G, NM_001352142.1:c.540A>G, XM_017026960.2:c.684A>G, XM_017026960.1:c.684A>G, NM_001352139.2:c.576A>G, NM_001352139.1:c.576A>G, NM_001352135.2:c.678A>G, NM_001352135.1:c.678A>G, NM_001330759.2:c.-151A>G, NM_001330759.1:c.-151A>G, XM_017026969.2:c.453A>G, XM_017026969.1:c.453A>G, NM_001352150.2:c.-151A>G, NM_001352150.1:c.-151A>G, XM_047439083.1:c.684A>G, XM_047439087.1:c.648A>G, XM_047439082.1:c.771A>G, XM_047439088.1:c.576A>G, XM_047439084.1:c.684A>G, XM_047439085.1:c.684A>G, XM_047439079.1:c.1011A>G, NR_028343.1:n.1033A>G, XM_047439080.1:c.888A>G, XM_047439086.1:c.654A>G, XM_047439081.1:c.780A>G, XM_047439089.1:c.501A>G, XM_047439090.1:c.438A>G, NP_001129510.2:p.Ile180Met, NP_060825.2:p.Ile180Met, NP_001157781.1:p.Ile180Met, XP_024307364.1:p.Ile257Met, NP_001339059.1:p.Ile257Met, NP_001339077.1:p.Ile167Met, NP_001339062.1:p.Ile228Met, XP_024307366.1:p.Ile257Met, NP_001339073.1:p.Ile180Met, XP_024307367.1:p.Ile257Met, NP_001339078.1:p.Ile167Met, NP_001317695.1:p.Ile228Met, NP_001339060.1:p.Ile257Met, NP_001339066.1:p.Ile216Met, XP_006723330.1:p.Ile257Met, NP_001339061.1:p.Ile228Met, NP_001339070.1:p.Ile192Met, NP_001339063.1:p.Ile228Met, XP_024307363.1:p.Ile303Met, XP_016882453.1:p.Ile180Met, NP_001339065.1:p.Ile216Met, NP_001339072.1:p.Ile180Met, XP_024307365.1:p.Ile257Met, NP_001339067.1:p.Ile192Met, NP_001339076.1:p.Ile167Met, NP_001339069.1:p.Ile192Met, NP_001339075.1:p.Ile180Met, NP_001339071.1:p.Ile180Met, XP_016882449.1:p.Ile228Met, NP_001339068.1:p.Ile192Met, NP_001339064.1:p.Ile226Met, XP_016882458.1:p.Ile151Met, XP_047295039.1:p.Ile228Met, XP_047295043.1:p.Ile216Met, XP_047295038.1:p.Ile257Met, XP_047295044.1:p.Ile192Met, XP_047295040.1:p.Ile228Met, XP_047295041.1:p.Ile228Met, XP_047295035.1:p.Ile337Met, XP_047295036.1:p.Ile296Met, XP_047295042.1:p.Ile218Met, XP_047295037.1:p.Ile260Met, XP_047295045.1:p.Ile167Met, XP_047295046.1:p.Ile146Met

                                      19.

                                      rs1469133613 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        19:53109612 (GRCh38)
                                        19:53612865 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53109611:G:T
                                        Gene:
                                        ZNF415 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.53109612G>T, NC_000019.9:g.53612865G>T, NM_001136038.4:c.433C>A, NM_001136038.3:c.433C>A, NM_001136038.2:c.433C>A, NM_018355.4:c.433C>A, NM_018355.3:c.433C>A, NM_001164309.3:c.433C>A, NM_001164309.2:c.433C>A, NM_001164309.1:c.433C>A, XM_024451596.2:c.664C>A, XM_024451596.1:c.664C>A, NM_001352130.2:c.664C>A, NM_001352130.1:c.664C>A, NM_001352148.2:c.394C>A, NM_001352148.1:c.394C>A, NM_001352133.2:c.577C>A, NM_001352133.1:c.577C>A, XM_024451598.2:c.664C>A, XM_024451598.1:c.664C>A, NM_001352144.2:c.433C>A, NM_001352144.1:c.433C>A, XM_024451599.2:c.664C>A, XM_024451599.1:c.664C>A, NM_001352149.2:c.394C>A, NM_001352149.1:c.394C>A, NM_001330766.2:c.577C>A, NM_001330766.1:c.577C>A, NM_001352131.2:c.664C>A, NM_001352131.1:c.664C>A, NM_001352137.2:c.541C>A, NM_001352137.1:c.541C>A, XM_006723267.2:c.664C>A, XM_006723267.1:c.664C>A, NM_001352132.2:c.577C>A, NM_001352132.1:c.577C>A, NM_001352141.2:c.469C>A, NM_001352141.1:c.469C>A, NM_001352134.2:c.577C>A, NM_001352134.1:c.577C>A, XM_024451595.2:c.802C>A, XM_024451595.1:c.802C>A, XM_017026964.2:c.433C>A, XM_017026964.1:c.433C>A, NM_001352136.2:c.541C>A, NM_001352136.1:c.541C>A, NM_001352143.2:c.433C>A, NM_001352143.1:c.433C>A, XM_024451597.2:c.664C>A, XM_024451597.1:c.664C>A, NM_001352138.2:c.469C>A, NM_001352138.1:c.469C>A, NM_001352147.2:c.394C>A, NM_001352147.1:c.394C>A, NM_001352140.2:c.469C>A, NM_001352140.1:c.469C>A, NM_001352146.2:c.433C>A, NM_001352146.1:c.433C>A, NM_001352151.2:c.-258C>A, NM_001352151.1:c.-258C>A, NM_001352142.2:c.433C>A, NM_001352142.1:c.433C>A, XM_017026960.2:c.577C>A, XM_017026960.1:c.577C>A, NM_001352139.2:c.469C>A, NM_001352139.1:c.469C>A, NM_001352135.2:c.571C>A, NM_001352135.1:c.571C>A, NM_001330759.2:c.-258C>A, NM_001330759.1:c.-258C>A, XM_017026969.2:c.346C>A, XM_017026969.1:c.346C>A, NM_001352150.2:c.-258C>A, NM_001352150.1:c.-258C>A, XM_047439083.1:c.577C>A, XM_047439087.1:c.541C>A, XM_047439082.1:c.664C>A, XM_047439088.1:c.469C>A, XM_047439084.1:c.577C>A, XM_047439085.1:c.577C>A, XM_047439079.1:c.904C>A, NR_028343.1:n.926C>A, XM_047439080.1:c.781C>A, XM_047439086.1:c.547C>A, XM_047439081.1:c.673C>A, XM_047439089.1:c.394C>A, XM_047439090.1:c.331C>A, NP_001129510.2:p.Pro145Thr, NP_060825.2:p.Pro145Thr, NP_001157781.1:p.Pro145Thr, XP_024307364.1:p.Pro222Thr, NP_001339059.1:p.Pro222Thr, NP_001339077.1:p.Pro132Thr, NP_001339062.1:p.Pro193Thr, XP_024307366.1:p.Pro222Thr, NP_001339073.1:p.Pro145Thr, XP_024307367.1:p.Pro222Thr, NP_001339078.1:p.Pro132Thr, NP_001317695.1:p.Pro193Thr, NP_001339060.1:p.Pro222Thr, NP_001339066.1:p.Pro181Thr, XP_006723330.1:p.Pro222Thr, NP_001339061.1:p.Pro193Thr, NP_001339070.1:p.Pro157Thr, NP_001339063.1:p.Pro193Thr, XP_024307363.1:p.Pro268Thr, XP_016882453.1:p.Pro145Thr, NP_001339065.1:p.Pro181Thr, NP_001339072.1:p.Pro145Thr, XP_024307365.1:p.Pro222Thr, NP_001339067.1:p.Pro157Thr, NP_001339076.1:p.Pro132Thr, NP_001339069.1:p.Pro157Thr, NP_001339075.1:p.Pro145Thr, NP_001339071.1:p.Pro145Thr, XP_016882449.1:p.Pro193Thr, NP_001339068.1:p.Pro157Thr, NP_001339064.1:p.Pro191Thr, XP_016882458.1:p.Pro116Thr, XP_047295039.1:p.Pro193Thr, XP_047295043.1:p.Pro181Thr, XP_047295038.1:p.Pro222Thr, XP_047295044.1:p.Pro157Thr, XP_047295040.1:p.Pro193Thr, XP_047295041.1:p.Pro193Thr, XP_047295035.1:p.Pro302Thr, XP_047295036.1:p.Pro261Thr, XP_047295042.1:p.Pro183Thr, XP_047295037.1:p.Pro225Thr, XP_047295045.1:p.Pro132Thr, XP_047295046.1:p.Pro111Thr

                                        20.

                                        rs1467500160 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          19:53109355 (GRCh38)
                                          19:53612608 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53109354:G:A,NC_000019.10:53109354:G:C
                                          Gene:
                                          ZNF415 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.53109355G>A, NC_000019.10:g.53109355G>C, NC_000019.9:g.53612608G>A, NC_000019.9:g.53612608G>C, NM_001136038.4:c.690C>T, NM_001136038.4:c.690C>G, NM_001136038.3:c.690C>T, NM_001136038.3:c.690C>G, NM_001136038.2:c.690C>T, NM_001136038.2:c.690C>G, NM_018355.4:c.690C>T, NM_018355.4:c.690C>G, NM_018355.3:c.690C>T, NM_018355.3:c.690C>G, NM_001164309.3:c.690C>T, NM_001164309.3:c.690C>G, NM_001164309.2:c.690C>T, NM_001164309.2:c.690C>G, NM_001164309.1:c.690C>T, NM_001164309.1:c.690C>G, XM_024451596.2:c.921C>T, XM_024451596.2:c.921C>G, XM_024451596.1:c.921C>T, XM_024451596.1:c.921C>G, NM_001352130.2:c.921C>T, NM_001352130.2:c.921C>G, NM_001352130.1:c.921C>T, NM_001352130.1:c.921C>G, NM_001352148.2:c.651C>T, NM_001352148.2:c.651C>G, NM_001352148.1:c.651C>T, NM_001352148.1:c.651C>G, NM_001352133.2:c.834C>T, NM_001352133.2:c.834C>G, NM_001352133.1:c.834C>T, NM_001352133.1:c.834C>G, XM_024451598.2:c.921C>T, XM_024451598.2:c.921C>G, XM_024451598.1:c.921C>T, XM_024451598.1:c.921C>G, NM_001352144.2:c.690C>T, NM_001352144.2:c.690C>G, NM_001352144.1:c.690C>T, NM_001352144.1:c.690C>G, XM_024451599.2:c.921C>T, XM_024451599.2:c.921C>G, XM_024451599.1:c.921C>T, XM_024451599.1:c.921C>G, NM_001352149.2:c.651C>T, NM_001352149.2:c.651C>G, NM_001352149.1:c.651C>T, NM_001352149.1:c.651C>G, NM_001330766.2:c.834C>T, NM_001330766.2:c.834C>G, NM_001330766.1:c.834C>T, NM_001330766.1:c.834C>G, NM_001352131.2:c.921C>T, NM_001352131.2:c.921C>G, NM_001352131.1:c.921C>T, NM_001352131.1:c.921C>G, NM_001352137.2:c.798C>T, NM_001352137.2:c.798C>G, NM_001352137.1:c.798C>T, NM_001352137.1:c.798C>G, XM_006723267.2:c.921C>T, XM_006723267.2:c.921C>G, XM_006723267.1:c.921C>T, XM_006723267.1:c.921C>G, NM_001352132.2:c.834C>T, NM_001352132.2:c.834C>G, NM_001352132.1:c.834C>T, NM_001352132.1:c.834C>G, NM_001352141.2:c.726C>T, NM_001352141.2:c.726C>G, NM_001352141.1:c.726C>T, NM_001352141.1:c.726C>G, NM_001352134.2:c.834C>T, NM_001352134.2:c.834C>G, NM_001352134.1:c.834C>T, NM_001352134.1:c.834C>G, XM_024451595.2:c.1059C>T, XM_024451595.2:c.1059C>G, XM_024451595.1:c.1059C>T, XM_024451595.1:c.1059C>G, XM_017026964.2:c.690C>T, XM_017026964.2:c.690C>G, XM_017026964.1:c.690C>T, XM_017026964.1:c.690C>G, NM_001352136.2:c.798C>T, NM_001352136.2:c.798C>G, NM_001352136.1:c.798C>T, NM_001352136.1:c.798C>G, NM_001352143.2:c.690C>T, NM_001352143.2:c.690C>G, NM_001352143.1:c.690C>T, NM_001352143.1:c.690C>G, XM_024451597.2:c.921C>T, XM_024451597.2:c.921C>G, XM_024451597.1:c.921C>T, XM_024451597.1:c.921C>G, NM_001352138.2:c.726C>T, NM_001352138.2:c.726C>G, NM_001352138.1:c.726C>T, NM_001352138.1:c.726C>G, NM_001352147.2:c.651C>T, NM_001352147.2:c.651C>G, NM_001352147.1:c.651C>T, NM_001352147.1:c.651C>G, NM_001352140.2:c.726C>T, NM_001352140.2:c.726C>G, NM_001352140.1:c.726C>T, NM_001352140.1:c.726C>G, NM_001352146.2:c.690C>T, NM_001352146.2:c.690C>G, NM_001352146.1:c.690C>T, NM_001352146.1:c.690C>G, NM_001352151.2:c.-1C>T, NM_001352151.2:c.-1C>G, NM_001352151.1:c.-1C>T, NM_001352151.1:c.-1C>G, NM_001352142.2:c.690C>T, NM_001352142.2:c.690C>G, NM_001352142.1:c.690C>T, NM_001352142.1:c.690C>G, XM_017026960.2:c.834C>T, XM_017026960.2:c.834C>G, XM_017026960.1:c.834C>T, XM_017026960.1:c.834C>G, NM_001352139.2:c.726C>T, NM_001352139.2:c.726C>G, NM_001352139.1:c.726C>T, NM_001352139.1:c.726C>G, NM_001352135.2:c.828C>T, NM_001352135.2:c.828C>G, NM_001352135.1:c.828C>T, NM_001352135.1:c.828C>G, NM_001330759.2:c.-1C>T, NM_001330759.2:c.-1C>G, NM_001330759.1:c.-1C>T, NM_001330759.1:c.-1C>G, XM_017026969.2:c.603C>T, XM_017026969.2:c.603C>G, XM_017026969.1:c.603C>T, XM_017026969.1:c.603C>G, NM_001352150.2:c.-1C>T, NM_001352150.2:c.-1C>G, NM_001352150.1:c.-1C>T, NM_001352150.1:c.-1C>G, XM_047439083.1:c.834C>T, XM_047439083.1:c.834C>G, XM_047439087.1:c.798C>T, XM_047439087.1:c.798C>G, XM_047439082.1:c.921C>T, XM_047439082.1:c.921C>G, XM_047439088.1:c.726C>T, XM_047439088.1:c.726C>G, XM_047439084.1:c.834C>T, XM_047439084.1:c.834C>G, XM_047439085.1:c.834C>T, XM_047439085.1:c.834C>G, XM_047439079.1:c.1161C>T, XM_047439079.1:c.1161C>G, NR_028343.1:n.1183C>T, NR_028343.1:n.1183C>G, XM_047439080.1:c.1038C>T, XM_047439080.1:c.1038C>G, XM_047439086.1:c.804C>T, XM_047439086.1:c.804C>G, XM_047439081.1:c.930C>T, XM_047439081.1:c.930C>G, XM_047439089.1:c.651C>T, XM_047439089.1:c.651C>G, XM_047439090.1:c.588C>T, XM_047439090.1:c.588C>G, NP_001129510.2:p.His230Gln, NP_060825.2:p.His230Gln, NP_001157781.1:p.His230Gln, XP_024307364.1:p.His307Gln, NP_001339059.1:p.His307Gln, NP_001339077.1:p.His217Gln, NP_001339062.1:p.His278Gln, XP_024307366.1:p.His307Gln, NP_001339073.1:p.His230Gln, XP_024307367.1:p.His307Gln, NP_001339078.1:p.His217Gln, NP_001317695.1:p.His278Gln, NP_001339060.1:p.His307Gln, NP_001339066.1:p.His266Gln, XP_006723330.1:p.His307Gln, NP_001339061.1:p.His278Gln, NP_001339070.1:p.His242Gln, NP_001339063.1:p.His278Gln, XP_024307363.1:p.His353Gln, XP_016882453.1:p.His230Gln, NP_001339065.1:p.His266Gln, NP_001339072.1:p.His230Gln, XP_024307365.1:p.His307Gln, NP_001339067.1:p.His242Gln, NP_001339076.1:p.His217Gln, NP_001339069.1:p.His242Gln, NP_001339075.1:p.His230Gln, NP_001339071.1:p.His230Gln, XP_016882449.1:p.His278Gln, NP_001339068.1:p.His242Gln, NP_001339064.1:p.His276Gln, XP_016882458.1:p.His201Gln, XP_047295039.1:p.His278Gln, XP_047295043.1:p.His266Gln, XP_047295038.1:p.His307Gln, XP_047295044.1:p.His242Gln, XP_047295040.1:p.His278Gln, XP_047295041.1:p.His278Gln, XP_047295035.1:p.His387Gln, XP_047295036.1:p.His346Gln, XP_047295042.1:p.His268Gln, XP_047295037.1:p.His310Gln, XP_047295045.1:p.His217Gln, XP_047295046.1:p.His196Gln

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