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Items: 1 to 20 of 304

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.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  rs1467301764 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:53108885 (GRCh38)
                    19:53612138 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53108884:T:C
                    Gene:
                    ZNF415 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.53108885T>C, NC_000019.9:g.53612138T>C, NM_001136038.4:c.1160A>G, NM_001136038.3:c.1160A>G, NM_001136038.2:c.1160A>G, NM_018355.4:c.1160A>G, NM_018355.3:c.1160A>G, NM_001164309.3:c.1160A>G, NM_001164309.2:c.1160A>G, NM_001164309.1:c.1160A>G, XM_024451596.2:c.1391A>G, XM_024451596.1:c.1391A>G, NM_001352130.2:c.1391A>G, NM_001352130.1:c.1391A>G, NM_001352148.2:c.1121A>G, NM_001352148.1:c.1121A>G, NM_001352133.2:c.1304A>G, NM_001352133.1:c.1304A>G, XM_024451598.2:c.1391A>G, XM_024451598.1:c.1391A>G, NM_001352144.2:c.1160A>G, NM_001352144.1:c.1160A>G, XM_024451599.2:c.1391A>G, XM_024451599.1:c.1391A>G, NM_001352149.2:c.1121A>G, NM_001352149.1:c.1121A>G, NM_001330766.2:c.1304A>G, NM_001330766.1:c.1304A>G, NM_001352131.2:c.1391A>G, NM_001352131.1:c.1391A>G, NM_001352137.2:c.1268A>G, NM_001352137.1:c.1268A>G, XM_006723267.2:c.1391A>G, XM_006723267.1:c.1391A>G, NM_001352132.2:c.1304A>G, NM_001352132.1:c.1304A>G, NM_001352141.2:c.1196A>G, NM_001352141.1:c.1196A>G, NM_001352134.2:c.1304A>G, NM_001352134.1:c.1304A>G, XM_024451595.2:c.1529A>G, XM_024451595.1:c.1529A>G, XM_017026964.2:c.1160A>G, XM_017026964.1:c.1160A>G, NM_001352136.2:c.1268A>G, NM_001352136.1:c.1268A>G, NM_001352143.2:c.1160A>G, NM_001352143.1:c.1160A>G, XM_024451597.2:c.1391A>G, XM_024451597.1:c.1391A>G, NM_001352138.2:c.1196A>G, NM_001352138.1:c.1196A>G, NM_001352147.2:c.1121A>G, NM_001352147.1:c.1121A>G, NM_001352140.2:c.1196A>G, NM_001352140.1:c.1196A>G, NM_001352146.2:c.1160A>G, NM_001352146.1:c.1160A>G, NM_001352151.2:c.470A>G, NM_001352151.1:c.470A>G, NM_001352142.2:c.1160A>G, NM_001352142.1:c.1160A>G, XM_017026960.2:c.1304A>G, XM_017026960.1:c.1304A>G, NM_001352139.2:c.1196A>G, NM_001352139.1:c.1196A>G, NM_001352135.2:c.1298A>G, NM_001352135.1:c.1298A>G, NM_001330759.2:c.470A>G, NM_001330759.1:c.470A>G, XM_017026969.2:c.1073A>G, XM_017026969.1:c.1073A>G, NM_001352150.2:c.470A>G, NM_001352150.1:c.470A>G, XM_047439083.1:c.1304A>G, XM_047439087.1:c.1268A>G, XM_047439082.1:c.1391A>G, XM_047439088.1:c.1196A>G, XM_047439084.1:c.1304A>G, XM_047439085.1:c.1304A>G, XM_047439079.1:c.1631A>G, NR_028343.1:n.1653A>G, XM_047439080.1:c.1508A>G, XM_047439086.1:c.1274A>G, XM_047439081.1:c.1400A>G, XM_047439089.1:c.1121A>G, XM_047439090.1:c.1058A>G, NP_001129510.2:p.Asn387Ser, NP_060825.2:p.Asn387Ser, NP_001157781.1:p.Asn387Ser, XP_024307364.1:p.Asn464Ser, NP_001339059.1:p.Asn464Ser, NP_001339077.1:p.Asn374Ser, NP_001339062.1:p.Asn435Ser, XP_024307366.1:p.Asn464Ser, NP_001339073.1:p.Asn387Ser, XP_024307367.1:p.Asn464Ser, NP_001339078.1:p.Asn374Ser, NP_001317695.1:p.Asn435Ser, NP_001339060.1:p.Asn464Ser, NP_001339066.1:p.Asn423Ser, XP_006723330.1:p.Asn464Ser, NP_001339061.1:p.Asn435Ser, NP_001339070.1:p.Asn399Ser, NP_001339063.1:p.Asn435Ser, XP_024307363.1:p.Asn510Ser, XP_016882453.1:p.Asn387Ser, NP_001339065.1:p.Asn423Ser, NP_001339072.1:p.Asn387Ser, XP_024307365.1:p.Asn464Ser, NP_001339067.1:p.Asn399Ser, NP_001339076.1:p.Asn374Ser, NP_001339069.1:p.Asn399Ser, NP_001339075.1:p.Asn387Ser, NP_001339080.1:p.Asn157Ser, NP_001339071.1:p.Asn387Ser, XP_016882449.1:p.Asn435Ser, NP_001339068.1:p.Asn399Ser, NP_001339064.1:p.Asn433Ser, NP_001317688.1:p.Asn157Ser, XP_016882458.1:p.Asn358Ser, NP_001339079.1:p.Asn157Ser, XP_047295039.1:p.Asn435Ser, XP_047295043.1:p.Asn423Ser, XP_047295038.1:p.Asn464Ser, XP_047295044.1:p.Asn399Ser, XP_047295040.1:p.Asn435Ser, XP_047295041.1:p.Asn435Ser, XP_047295035.1:p.Asn544Ser, XP_047295036.1:p.Asn503Ser, XP_047295042.1:p.Asn425Ser, XP_047295037.1:p.Asn467Ser, XP_047295045.1:p.Asn374Ser, XP_047295046.1:p.Asn353Ser

                    10.

                    rs1463501900 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:53108493 (GRCh38)
                      19:53611746 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53108492:G:A
                      Gene:
                      ZNF415 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.53108493G>A, NC_000019.9:g.53611746G>A, NM_001136038.4:c.1552C>T, NM_001136038.3:c.1552C>T, NM_001136038.2:c.1552C>T, NM_018355.4:c.1552C>T, NM_018355.3:c.1552C>T, NM_001164309.3:c.1552C>T, NM_001164309.2:c.1552C>T, NM_001164309.1:c.1552C>T, XM_024451596.2:c.1783C>T, XM_024451596.1:c.1783C>T, NM_001352130.2:c.1783C>T, NM_001352130.1:c.1783C>T, NM_001352148.2:c.1513C>T, NM_001352148.1:c.1513C>T, NM_001352133.2:c.1696C>T, NM_001352133.1:c.1696C>T, XM_024451598.2:c.1783C>T, XM_024451598.1:c.1783C>T, NM_001352144.2:c.1552C>T, NM_001352144.1:c.1552C>T, XM_024451599.2:c.1783C>T, XM_024451599.1:c.1783C>T, NM_001352149.2:c.1513C>T, NM_001352149.1:c.1513C>T, NM_001330766.2:c.1696C>T, NM_001330766.1:c.1696C>T, NM_001352131.2:c.1783C>T, NM_001352131.1:c.1783C>T, NM_001352137.2:c.1660C>T, NM_001352137.1:c.1660C>T, XM_006723267.2:c.1783C>T, XM_006723267.1:c.1783C>T, NM_001352132.2:c.1696C>T, NM_001352132.1:c.1696C>T, NM_001352141.2:c.1588C>T, NM_001352141.1:c.1588C>T, NM_001352134.2:c.1696C>T, NM_001352134.1:c.1696C>T, XM_024451595.2:c.1921C>T, XM_024451595.1:c.1921C>T, XM_017026964.2:c.1552C>T, XM_017026964.1:c.1552C>T, NM_001352136.2:c.1660C>T, NM_001352136.1:c.1660C>T, NM_001352143.2:c.1552C>T, NM_001352143.1:c.1552C>T, XM_024451597.2:c.1783C>T, XM_024451597.1:c.1783C>T, NM_001352138.2:c.1588C>T, NM_001352138.1:c.1588C>T, NM_001352147.2:c.1513C>T, NM_001352147.1:c.1513C>T, NM_001352140.2:c.1588C>T, NM_001352140.1:c.1588C>T, NM_001352146.2:c.1552C>T, NM_001352146.1:c.1552C>T, NM_001352151.2:c.862C>T, NM_001352151.1:c.862C>T, NM_001352142.2:c.1552C>T, NM_001352142.1:c.1552C>T, XM_017026960.2:c.1696C>T, XM_017026960.1:c.1696C>T, NM_001352139.2:c.1588C>T, NM_001352139.1:c.1588C>T, NM_001352135.2:c.1690C>T, NM_001352135.1:c.1690C>T, NM_001330759.2:c.862C>T, NM_001330759.1:c.862C>T, XM_017026969.2:c.1465C>T, XM_017026969.1:c.1465C>T, NM_001352150.2:c.862C>T, NM_001352150.1:c.862C>T, XM_047439083.1:c.1696C>T, XM_047439087.1:c.1660C>T, XM_047439082.1:c.1783C>T, XM_047439088.1:c.1588C>T, XM_047439084.1:c.1696C>T, XM_047439085.1:c.1696C>T, XM_047439079.1:c.2023C>T, NR_028343.1:n.2045C>T, XM_047439080.1:c.1900C>T, XM_047439086.1:c.1666C>T, XM_047439081.1:c.1792C>T, XM_047439089.1:c.1513C>T, XM_047439090.1:c.1450C>T, NP_001129510.2:p.His518Tyr, NP_060825.2:p.His518Tyr, NP_001157781.1:p.His518Tyr, XP_024307364.1:p.His595Tyr, NP_001339059.1:p.His595Tyr, NP_001339077.1:p.His505Tyr, NP_001339062.1:p.His566Tyr, XP_024307366.1:p.His595Tyr, NP_001339073.1:p.His518Tyr, XP_024307367.1:p.His595Tyr, NP_001339078.1:p.His505Tyr, NP_001317695.1:p.His566Tyr, NP_001339060.1:p.His595Tyr, NP_001339066.1:p.His554Tyr, XP_006723330.1:p.His595Tyr, NP_001339061.1:p.His566Tyr, NP_001339070.1:p.His530Tyr, NP_001339063.1:p.His566Tyr, XP_024307363.1:p.His641Tyr, XP_016882453.1:p.His518Tyr, NP_001339065.1:p.His554Tyr, NP_001339072.1:p.His518Tyr, XP_024307365.1:p.His595Tyr, NP_001339067.1:p.His530Tyr, NP_001339076.1:p.His505Tyr, NP_001339069.1:p.His530Tyr, NP_001339075.1:p.His518Tyr, NP_001339080.1:p.His288Tyr, NP_001339071.1:p.His518Tyr, XP_016882449.1:p.His566Tyr, NP_001339068.1:p.His530Tyr, NP_001339064.1:p.His564Tyr, NP_001317688.1:p.His288Tyr, XP_016882458.1:p.His489Tyr, NP_001339079.1:p.His288Tyr, XP_047295039.1:p.His566Tyr, XP_047295043.1:p.His554Tyr, XP_047295038.1:p.His595Tyr, XP_047295044.1:p.His530Tyr, XP_047295040.1:p.His566Tyr, XP_047295041.1:p.His566Tyr, XP_047295035.1:p.His675Tyr, XP_047295036.1:p.His634Tyr, XP_047295042.1:p.His556Tyr, XP_047295037.1:p.His598Tyr, XP_047295045.1:p.His505Tyr, XP_047295046.1:p.His484Tyr

                      11.

                      rs1459287783 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:53108434 (GRCh38)
                        19:53611687 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53108433:T:C
                        Gene:
                        ZNF415 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.53108434T>C, NC_000019.9:g.53611687T>C, NM_001136038.4:c.1611A>G, NM_001136038.3:c.1611A>G, NM_001136038.2:c.1611A>G, NM_018355.4:c.1611A>G, NM_018355.3:c.1611A>G, NM_001164309.3:c.1611A>G, NM_001164309.2:c.1611A>G, NM_001164309.1:c.1611A>G, XM_024451596.2:c.1842A>G, XM_024451596.1:c.1842A>G, NM_001352130.2:c.1842A>G, NM_001352130.1:c.1842A>G, NM_001352148.2:c.1572A>G, NM_001352148.1:c.1572A>G, NM_001352133.2:c.1755A>G, NM_001352133.1:c.1755A>G, XM_024451598.2:c.1842A>G, XM_024451598.1:c.1842A>G, NM_001352144.2:c.1611A>G, NM_001352144.1:c.1611A>G, XM_024451599.2:c.1842A>G, XM_024451599.1:c.1842A>G, NM_001352149.2:c.1572A>G, NM_001352149.1:c.1572A>G, NM_001330766.2:c.1755A>G, NM_001330766.1:c.1755A>G, NM_001352131.2:c.1842A>G, NM_001352131.1:c.1842A>G, NM_001352137.2:c.1719A>G, NM_001352137.1:c.1719A>G, XM_006723267.2:c.1842A>G, XM_006723267.1:c.1842A>G, NM_001352132.2:c.1755A>G, NM_001352132.1:c.1755A>G, NM_001352141.2:c.1647A>G, NM_001352141.1:c.1647A>G, NM_001352134.2:c.1755A>G, NM_001352134.1:c.1755A>G, XM_024451595.2:c.1980A>G, XM_024451595.1:c.1980A>G, XM_017026964.2:c.1611A>G, XM_017026964.1:c.1611A>G, NM_001352136.2:c.1719A>G, NM_001352136.1:c.1719A>G, NM_001352143.2:c.1611A>G, NM_001352143.1:c.1611A>G, XM_024451597.2:c.1842A>G, XM_024451597.1:c.1842A>G, NM_001352138.2:c.1647A>G, NM_001352138.1:c.1647A>G, NM_001352147.2:c.1572A>G, NM_001352147.1:c.1572A>G, NM_001352140.2:c.1647A>G, NM_001352140.1:c.1647A>G, NM_001352146.2:c.1611A>G, NM_001352146.1:c.1611A>G, NM_001352151.2:c.921A>G, NM_001352151.1:c.921A>G, NM_001352142.2:c.1611A>G, NM_001352142.1:c.1611A>G, XM_017026960.2:c.1755A>G, XM_017026960.1:c.1755A>G, NM_001352139.2:c.1647A>G, NM_001352139.1:c.1647A>G, NM_001352135.2:c.1749A>G, NM_001352135.1:c.1749A>G, NM_001330759.2:c.921A>G, NM_001330759.1:c.921A>G, XM_017026969.2:c.1524A>G, XM_017026969.1:c.1524A>G, NM_001352150.2:c.921A>G, NM_001352150.1:c.921A>G, XM_047439083.1:c.1755A>G, XM_047439087.1:c.1719A>G, XM_047439082.1:c.1842A>G, XM_047439088.1:c.1647A>G, XM_047439084.1:c.1755A>G, XM_047439085.1:c.1755A>G, XM_047439079.1:c.2082A>G, NR_028343.1:n.2104A>G, XM_047439080.1:c.1959A>G, XM_047439086.1:c.1725A>G, XM_047439081.1:c.1851A>G, XM_047439089.1:c.1572A>G, XM_047439090.1:c.1509A>G

                        12.

                        rs1450837301 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          19:53109211 (GRCh38)
                          19:53612464 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53109210:G:T
                          Gene:
                          ZNF415 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000019.10:g.53109211G>T, NC_000019.9:g.53612464G>T, NM_001136038.4:c.834C>A, NM_001136038.3:c.834C>A, NM_001136038.2:c.834C>A, NM_018355.4:c.834C>A, NM_018355.3:c.834C>A, NM_001164309.3:c.834C>A, NM_001164309.2:c.834C>A, NM_001164309.1:c.834C>A, XM_024451596.2:c.1065C>A, XM_024451596.1:c.1065C>A, NM_001352130.2:c.1065C>A, NM_001352130.1:c.1065C>A, NM_001352148.2:c.795C>A, NM_001352148.1:c.795C>A, NM_001352133.2:c.978C>A, NM_001352133.1:c.978C>A, XM_024451598.2:c.1065C>A, XM_024451598.1:c.1065C>A, NM_001352144.2:c.834C>A, NM_001352144.1:c.834C>A, XM_024451599.2:c.1065C>A, XM_024451599.1:c.1065C>A, NM_001352149.2:c.795C>A, NM_001352149.1:c.795C>A, NM_001330766.2:c.978C>A, NM_001330766.1:c.978C>A, NM_001352131.2:c.1065C>A, NM_001352131.1:c.1065C>A, NM_001352137.2:c.942C>A, NM_001352137.1:c.942C>A, XM_006723267.2:c.1065C>A, XM_006723267.1:c.1065C>A, NM_001352132.2:c.978C>A, NM_001352132.1:c.978C>A, NM_001352141.2:c.870C>A, NM_001352141.1:c.870C>A, NM_001352134.2:c.978C>A, NM_001352134.1:c.978C>A, XM_024451595.2:c.1203C>A, XM_024451595.1:c.1203C>A, XM_017026964.2:c.834C>A, XM_017026964.1:c.834C>A, NM_001352136.2:c.942C>A, NM_001352136.1:c.942C>A, NM_001352143.2:c.834C>A, NM_001352143.1:c.834C>A, XM_024451597.2:c.1065C>A, XM_024451597.1:c.1065C>A, NM_001352138.2:c.870C>A, NM_001352138.1:c.870C>A, NM_001352147.2:c.795C>A, NM_001352147.1:c.795C>A, NM_001352140.2:c.870C>A, NM_001352140.1:c.870C>A, NM_001352146.2:c.834C>A, NM_001352146.1:c.834C>A, NM_001352151.2:c.144C>A, NM_001352151.1:c.144C>A, NM_001352142.2:c.834C>A, NM_001352142.1:c.834C>A, XM_017026960.2:c.978C>A, XM_017026960.1:c.978C>A, NM_001352139.2:c.870C>A, NM_001352139.1:c.870C>A, NM_001352135.2:c.972C>A, NM_001352135.1:c.972C>A, NM_001330759.2:c.144C>A, NM_001330759.1:c.144C>A, XM_017026969.2:c.747C>A, XM_017026969.1:c.747C>A, NM_001352150.2:c.144C>A, NM_001352150.1:c.144C>A, XM_047439083.1:c.978C>A, XM_047439087.1:c.942C>A, XM_047439082.1:c.1065C>A, XM_047439088.1:c.870C>A, XM_047439084.1:c.978C>A, XM_047439085.1:c.978C>A, XM_047439079.1:c.1305C>A, NR_028343.1:n.1327C>A, XM_047439080.1:c.1182C>A, XM_047439086.1:c.948C>A, XM_047439081.1:c.1074C>A, XM_047439089.1:c.795C>A, XM_047439090.1:c.732C>A, NP_001129510.2:p.Asp278Glu, NP_060825.2:p.Asp278Glu, NP_001157781.1:p.Asp278Glu, XP_024307364.1:p.Asp355Glu, NP_001339059.1:p.Asp355Glu, NP_001339077.1:p.Asp265Glu, NP_001339062.1:p.Asp326Glu, XP_024307366.1:p.Asp355Glu, NP_001339073.1:p.Asp278Glu, XP_024307367.1:p.Asp355Glu, NP_001339078.1:p.Asp265Glu, NP_001317695.1:p.Asp326Glu, NP_001339060.1:p.Asp355Glu, NP_001339066.1:p.Asp314Glu, XP_006723330.1:p.Asp355Glu, NP_001339061.1:p.Asp326Glu, NP_001339070.1:p.Asp290Glu, NP_001339063.1:p.Asp326Glu, XP_024307363.1:p.Asp401Glu, XP_016882453.1:p.Asp278Glu, NP_001339065.1:p.Asp314Glu, NP_001339072.1:p.Asp278Glu, XP_024307365.1:p.Asp355Glu, NP_001339067.1:p.Asp290Glu, NP_001339076.1:p.Asp265Glu, NP_001339069.1:p.Asp290Glu, NP_001339075.1:p.Asp278Glu, NP_001339080.1:p.Asp48Glu, NP_001339071.1:p.Asp278Glu, XP_016882449.1:p.Asp326Glu, NP_001339068.1:p.Asp290Glu, NP_001339064.1:p.Asp324Glu, NP_001317688.1:p.Asp48Glu, XP_016882458.1:p.Asp249Glu, NP_001339079.1:p.Asp48Glu, XP_047295039.1:p.Asp326Glu, XP_047295043.1:p.Asp314Glu, XP_047295038.1:p.Asp355Glu, XP_047295044.1:p.Asp290Glu, XP_047295040.1:p.Asp326Glu, XP_047295041.1:p.Asp326Glu, XP_047295035.1:p.Asp435Glu, XP_047295036.1:p.Asp394Glu, XP_047295042.1:p.Asp316Glu, XP_047295037.1:p.Asp358Glu, XP_047295045.1:p.Asp265Glu, XP_047295046.1:p.Asp244Glu

                          13.

                          rs1449495391 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:53108677 (GRCh38)
                            19:53611930 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53108676:A:G
                            Gene:
                            ZNF415 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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.53108677A>G, NC_000019.9:g.53611930A>G, NM_001136038.4:c.1368T>C, NM_001136038.3:c.1368T>C, NM_001136038.2:c.1368T>C, NM_018355.4:c.1368T>C, NM_018355.3:c.1368T>C, NM_001164309.3:c.1368T>C, NM_001164309.2:c.1368T>C, NM_001164309.1:c.1368T>C, XM_024451596.2:c.1599T>C, XM_024451596.1:c.1599T>C, NM_001352130.2:c.1599T>C, NM_001352130.1:c.1599T>C, NM_001352148.2:c.1329T>C, NM_001352148.1:c.1329T>C, NM_001352133.2:c.1512T>C, NM_001352133.1:c.1512T>C, XM_024451598.2:c.1599T>C, XM_024451598.1:c.1599T>C, NM_001352144.2:c.1368T>C, NM_001352144.1:c.1368T>C, XM_024451599.2:c.1599T>C, XM_024451599.1:c.1599T>C, NM_001352149.2:c.1329T>C, NM_001352149.1:c.1329T>C, NM_001330766.2:c.1512T>C, NM_001330766.1:c.1512T>C, NM_001352131.2:c.1599T>C, NM_001352131.1:c.1599T>C, NM_001352137.2:c.1476T>C, NM_001352137.1:c.1476T>C, XM_006723267.2:c.1599T>C, XM_006723267.1:c.1599T>C, NM_001352132.2:c.1512T>C, NM_001352132.1:c.1512T>C, NM_001352141.2:c.1404T>C, NM_001352141.1:c.1404T>C, NM_001352134.2:c.1512T>C, NM_001352134.1:c.1512T>C, XM_024451595.2:c.1737T>C, XM_024451595.1:c.1737T>C, XM_017026964.2:c.1368T>C, XM_017026964.1:c.1368T>C, NM_001352136.2:c.1476T>C, NM_001352136.1:c.1476T>C, NM_001352143.2:c.1368T>C, NM_001352143.1:c.1368T>C, XM_024451597.2:c.1599T>C, XM_024451597.1:c.1599T>C, NM_001352138.2:c.1404T>C, NM_001352138.1:c.1404T>C, NM_001352147.2:c.1329T>C, NM_001352147.1:c.1329T>C, NM_001352140.2:c.1404T>C, NM_001352140.1:c.1404T>C, NM_001352146.2:c.1368T>C, NM_001352146.1:c.1368T>C, NM_001352151.2:c.678T>C, NM_001352151.1:c.678T>C, NM_001352142.2:c.1368T>C, NM_001352142.1:c.1368T>C, XM_017026960.2:c.1512T>C, XM_017026960.1:c.1512T>C, NM_001352139.2:c.1404T>C, NM_001352139.1:c.1404T>C, NM_001352135.2:c.1506T>C, NM_001352135.1:c.1506T>C, NM_001330759.2:c.678T>C, NM_001330759.1:c.678T>C, XM_017026969.2:c.1281T>C, XM_017026969.1:c.1281T>C, NM_001352150.2:c.678T>C, NM_001352150.1:c.678T>C, XM_047439083.1:c.1512T>C, XM_047439087.1:c.1476T>C, XM_047439082.1:c.1599T>C, XM_047439088.1:c.1404T>C, XM_047439084.1:c.1512T>C, XM_047439085.1:c.1512T>C, XM_047439079.1:c.1839T>C, NR_028343.1:n.1861T>C, XM_047439080.1:c.1716T>C, XM_047439086.1:c.1482T>C, XM_047439081.1:c.1608T>C, XM_047439089.1:c.1329T>C, XM_047439090.1:c.1266T>C

                            14.

                            rs1447774846 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:53108566 (GRCh38)
                              19:53611819 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53108565:T:C
                              Gene:
                              ZNF415 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.00008/1 (ALFA)
                              HGVS:
                              NC_000019.10:g.53108566T>C, NC_000019.9:g.53611819T>C, NM_001136038.4:c.1479A>G, NM_001136038.3:c.1479A>G, NM_001136038.2:c.1479A>G, NM_018355.4:c.1479A>G, NM_018355.3:c.1479A>G, NM_001164309.3:c.1479A>G, NM_001164309.2:c.1479A>G, NM_001164309.1:c.1479A>G, XM_024451596.2:c.1710A>G, XM_024451596.1:c.1710A>G, NM_001352130.2:c.1710A>G, NM_001352130.1:c.1710A>G, NM_001352148.2:c.1440A>G, NM_001352148.1:c.1440A>G, NM_001352133.2:c.1623A>G, NM_001352133.1:c.1623A>G, XM_024451598.2:c.1710A>G, XM_024451598.1:c.1710A>G, NM_001352144.2:c.1479A>G, NM_001352144.1:c.1479A>G, XM_024451599.2:c.1710A>G, XM_024451599.1:c.1710A>G, NM_001352149.2:c.1440A>G, NM_001352149.1:c.1440A>G, NM_001330766.2:c.1623A>G, NM_001330766.1:c.1623A>G, NM_001352131.2:c.1710A>G, NM_001352131.1:c.1710A>G, NM_001352137.2:c.1587A>G, NM_001352137.1:c.1587A>G, XM_006723267.2:c.1710A>G, XM_006723267.1:c.1710A>G, NM_001352132.2:c.1623A>G, NM_001352132.1:c.1623A>G, NM_001352141.2:c.1515A>G, NM_001352141.1:c.1515A>G, NM_001352134.2:c.1623A>G, NM_001352134.1:c.1623A>G, XM_024451595.2:c.1848A>G, XM_024451595.1:c.1848A>G, XM_017026964.2:c.1479A>G, XM_017026964.1:c.1479A>G, NM_001352136.2:c.1587A>G, NM_001352136.1:c.1587A>G, NM_001352143.2:c.1479A>G, NM_001352143.1:c.1479A>G, XM_024451597.2:c.1710A>G, XM_024451597.1:c.1710A>G, NM_001352138.2:c.1515A>G, NM_001352138.1:c.1515A>G, NM_001352147.2:c.1440A>G, NM_001352147.1:c.1440A>G, NM_001352140.2:c.1515A>G, NM_001352140.1:c.1515A>G, NM_001352146.2:c.1479A>G, NM_001352146.1:c.1479A>G, NM_001352151.2:c.789A>G, NM_001352151.1:c.789A>G, NM_001352142.2:c.1479A>G, NM_001352142.1:c.1479A>G, XM_017026960.2:c.1623A>G, XM_017026960.1:c.1623A>G, NM_001352139.2:c.1515A>G, NM_001352139.1:c.1515A>G, NM_001352135.2:c.1617A>G, NM_001352135.1:c.1617A>G, NM_001330759.2:c.789A>G, NM_001330759.1:c.789A>G, XM_017026969.2:c.1392A>G, XM_017026969.1:c.1392A>G, NM_001352150.2:c.789A>G, NM_001352150.1:c.789A>G, XM_047439083.1:c.1623A>G, XM_047439087.1:c.1587A>G, XM_047439082.1:c.1710A>G, XM_047439088.1:c.1515A>G, XM_047439084.1:c.1623A>G, XM_047439085.1:c.1623A>G, XM_047439079.1:c.1950A>G, NR_028343.1:n.1972A>G, XM_047439080.1:c.1827A>G, XM_047439086.1:c.1593A>G, XM_047439081.1:c.1719A>G, XM_047439089.1:c.1440A>G, XM_047439090.1:c.1377A>G

                              15.

                              rs1447177961 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                19:53108423 (GRCh38)
                                19:53611676 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53108422:C:A
                                Gene:
                                ZNF415 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.53108423C>A, NC_000019.9:g.53611676C>A, NM_001136038.4:c.1622G>T, NM_001136038.3:c.1622G>T, NM_001136038.2:c.1622G>T, NM_018355.4:c.1622G>T, NM_018355.3:c.1622G>T, NM_001164309.3:c.1622G>T, NM_001164309.2:c.1622G>T, NM_001164309.1:c.1622G>T, XM_024451596.2:c.1853G>T, XM_024451596.1:c.1853G>T, NM_001352130.2:c.1853G>T, NM_001352130.1:c.1853G>T, NM_001352148.2:c.1583G>T, NM_001352148.1:c.1583G>T, NM_001352133.2:c.1766G>T, NM_001352133.1:c.1766G>T, XM_024451598.2:c.1853G>T, XM_024451598.1:c.1853G>T, NM_001352144.2:c.1622G>T, NM_001352144.1:c.1622G>T, XM_024451599.2:c.1853G>T, XM_024451599.1:c.1853G>T, NM_001352149.2:c.1583G>T, NM_001352149.1:c.1583G>T, NM_001330766.2:c.1766G>T, NM_001330766.1:c.1766G>T, NM_001352131.2:c.1853G>T, NM_001352131.1:c.1853G>T, NM_001352137.2:c.1730G>T, NM_001352137.1:c.1730G>T, XM_006723267.2:c.1853G>T, XM_006723267.1:c.1853G>T, NM_001352132.2:c.1766G>T, NM_001352132.1:c.1766G>T, NM_001352141.2:c.1658G>T, NM_001352141.1:c.1658G>T, NM_001352134.2:c.1766G>T, NM_001352134.1:c.1766G>T, XM_024451595.2:c.1991G>T, XM_024451595.1:c.1991G>T, XM_017026964.2:c.1622G>T, XM_017026964.1:c.1622G>T, NM_001352136.2:c.1730G>T, NM_001352136.1:c.1730G>T, NM_001352143.2:c.1622G>T, NM_001352143.1:c.1622G>T, XM_024451597.2:c.1853G>T, XM_024451597.1:c.1853G>T, NM_001352138.2:c.1658G>T, NM_001352138.1:c.1658G>T, NM_001352147.2:c.1583G>T, NM_001352147.1:c.1583G>T, NM_001352140.2:c.1658G>T, NM_001352140.1:c.1658G>T, NM_001352146.2:c.1622G>T, NM_001352146.1:c.1622G>T, NM_001352151.2:c.932G>T, NM_001352151.1:c.932G>T, NM_001352142.2:c.1622G>T, NM_001352142.1:c.1622G>T, XM_017026960.2:c.1766G>T, XM_017026960.1:c.1766G>T, NM_001352139.2:c.1658G>T, NM_001352139.1:c.1658G>T, NM_001352135.2:c.1760G>T, NM_001352135.1:c.1760G>T, NM_001330759.2:c.932G>T, NM_001330759.1:c.932G>T, XM_017026969.2:c.1535G>T, XM_017026969.1:c.1535G>T, NM_001352150.2:c.932G>T, NM_001352150.1:c.932G>T, XM_047439083.1:c.1766G>T, XM_047439087.1:c.1730G>T, XM_047439082.1:c.1853G>T, XM_047439088.1:c.1658G>T, XM_047439084.1:c.1766G>T, XM_047439085.1:c.1766G>T, XM_047439079.1:c.2093G>T, NR_028343.1:n.2115G>T, XM_047439080.1:c.1970G>T, XM_047439086.1:c.1736G>T, XM_047439081.1:c.1862G>T, XM_047439089.1:c.1583G>T, XM_047439090.1:c.1520G>T, NP_001129510.2:p.Arg541Ile, NP_060825.2:p.Arg541Ile, NP_001157781.1:p.Arg541Ile, XP_024307364.1:p.Arg618Ile, NP_001339059.1:p.Arg618Ile, NP_001339077.1:p.Arg528Ile, NP_001339062.1:p.Arg589Ile, XP_024307366.1:p.Arg618Ile, NP_001339073.1:p.Arg541Ile, XP_024307367.1:p.Arg618Ile, NP_001339078.1:p.Arg528Ile, NP_001317695.1:p.Arg589Ile, NP_001339060.1:p.Arg618Ile, NP_001339066.1:p.Arg577Ile, XP_006723330.1:p.Arg618Ile, NP_001339061.1:p.Arg589Ile, NP_001339070.1:p.Arg553Ile, NP_001339063.1:p.Arg589Ile, XP_024307363.1:p.Arg664Ile, XP_016882453.1:p.Arg541Ile, NP_001339065.1:p.Arg577Ile, NP_001339072.1:p.Arg541Ile, XP_024307365.1:p.Arg618Ile, NP_001339067.1:p.Arg553Ile, NP_001339076.1:p.Arg528Ile, NP_001339069.1:p.Arg553Ile, NP_001339075.1:p.Arg541Ile, NP_001339080.1:p.Arg311Ile, NP_001339071.1:p.Arg541Ile, XP_016882449.1:p.Arg589Ile, NP_001339068.1:p.Arg553Ile, NP_001339064.1:p.Arg587Ile, NP_001317688.1:p.Arg311Ile, XP_016882458.1:p.Arg512Ile, NP_001339079.1:p.Arg311Ile, XP_047295039.1:p.Arg589Ile, XP_047295043.1:p.Arg577Ile, XP_047295038.1:p.Arg618Ile, XP_047295044.1:p.Arg553Ile, XP_047295040.1:p.Arg589Ile, XP_047295041.1:p.Arg589Ile, XP_047295035.1:p.Arg698Ile, XP_047295036.1:p.Arg657Ile, XP_047295042.1:p.Arg579Ile, XP_047295037.1:p.Arg621Ile, XP_047295045.1:p.Arg528Ile, XP_047295046.1:p.Arg507Ile

                                16.

                                rs1442926688 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:53108969 (GRCh38)
                                  19:53612222 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53108968:T:C
                                  Gene:
                                  ZNF415 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.53108969T>C, NC_000019.9:g.53612222T>C, NM_001136038.4:c.1076A>G, NM_001136038.3:c.1076A>G, NM_001136038.2:c.1076A>G, NM_018355.4:c.1076A>G, NM_018355.3:c.1076A>G, NM_001164309.3:c.1076A>G, NM_001164309.2:c.1076A>G, NM_001164309.1:c.1076A>G, XM_024451596.2:c.1307A>G, XM_024451596.1:c.1307A>G, NM_001352130.2:c.1307A>G, NM_001352130.1:c.1307A>G, NM_001352148.2:c.1037A>G, NM_001352148.1:c.1037A>G, NM_001352133.2:c.1220A>G, NM_001352133.1:c.1220A>G, XM_024451598.2:c.1307A>G, XM_024451598.1:c.1307A>G, NM_001352144.2:c.1076A>G, NM_001352144.1:c.1076A>G, XM_024451599.2:c.1307A>G, XM_024451599.1:c.1307A>G, NM_001352149.2:c.1037A>G, NM_001352149.1:c.1037A>G, NM_001330766.2:c.1220A>G, NM_001330766.1:c.1220A>G, NM_001352131.2:c.1307A>G, NM_001352131.1:c.1307A>G, NM_001352137.2:c.1184A>G, NM_001352137.1:c.1184A>G, XM_006723267.2:c.1307A>G, XM_006723267.1:c.1307A>G, NM_001352132.2:c.1220A>G, NM_001352132.1:c.1220A>G, NM_001352141.2:c.1112A>G, NM_001352141.1:c.1112A>G, NM_001352134.2:c.1220A>G, NM_001352134.1:c.1220A>G, XM_024451595.2:c.1445A>G, XM_024451595.1:c.1445A>G, XM_017026964.2:c.1076A>G, XM_017026964.1:c.1076A>G, NM_001352136.2:c.1184A>G, NM_001352136.1:c.1184A>G, NM_001352143.2:c.1076A>G, NM_001352143.1:c.1076A>G, XM_024451597.2:c.1307A>G, XM_024451597.1:c.1307A>G, NM_001352138.2:c.1112A>G, NM_001352138.1:c.1112A>G, NM_001352147.2:c.1037A>G, NM_001352147.1:c.1037A>G, NM_001352140.2:c.1112A>G, NM_001352140.1:c.1112A>G, NM_001352146.2:c.1076A>G, NM_001352146.1:c.1076A>G, NM_001352151.2:c.386A>G, NM_001352151.1:c.386A>G, NM_001352142.2:c.1076A>G, NM_001352142.1:c.1076A>G, XM_017026960.2:c.1220A>G, XM_017026960.1:c.1220A>G, NM_001352139.2:c.1112A>G, NM_001352139.1:c.1112A>G, NM_001352135.2:c.1214A>G, NM_001352135.1:c.1214A>G, NM_001330759.2:c.386A>G, NM_001330759.1:c.386A>G, XM_017026969.2:c.989A>G, XM_017026969.1:c.989A>G, NM_001352150.2:c.386A>G, NM_001352150.1:c.386A>G, XM_047439083.1:c.1220A>G, XM_047439087.1:c.1184A>G, XM_047439082.1:c.1307A>G, XM_047439088.1:c.1112A>G, XM_047439084.1:c.1220A>G, XM_047439085.1:c.1220A>G, XM_047439079.1:c.1547A>G, NR_028343.1:n.1569A>G, XM_047439080.1:c.1424A>G, XM_047439086.1:c.1190A>G, XM_047439081.1:c.1316A>G, XM_047439089.1:c.1037A>G, XM_047439090.1:c.974A>G, NP_001129510.2:p.Asn359Ser, NP_060825.2:p.Asn359Ser, NP_001157781.1:p.Asn359Ser, XP_024307364.1:p.Asn436Ser, NP_001339059.1:p.Asn436Ser, NP_001339077.1:p.Asn346Ser, NP_001339062.1:p.Asn407Ser, XP_024307366.1:p.Asn436Ser, NP_001339073.1:p.Asn359Ser, XP_024307367.1:p.Asn436Ser, NP_001339078.1:p.Asn346Ser, NP_001317695.1:p.Asn407Ser, NP_001339060.1:p.Asn436Ser, NP_001339066.1:p.Asn395Ser, XP_006723330.1:p.Asn436Ser, NP_001339061.1:p.Asn407Ser, NP_001339070.1:p.Asn371Ser, NP_001339063.1:p.Asn407Ser, XP_024307363.1:p.Asn482Ser, XP_016882453.1:p.Asn359Ser, NP_001339065.1:p.Asn395Ser, NP_001339072.1:p.Asn359Ser, XP_024307365.1:p.Asn436Ser, NP_001339067.1:p.Asn371Ser, NP_001339076.1:p.Asn346Ser, NP_001339069.1:p.Asn371Ser, NP_001339075.1:p.Asn359Ser, NP_001339080.1:p.Asn129Ser, NP_001339071.1:p.Asn359Ser, XP_016882449.1:p.Asn407Ser, NP_001339068.1:p.Asn371Ser, NP_001339064.1:p.Asn405Ser, NP_001317688.1:p.Asn129Ser, XP_016882458.1:p.Asn330Ser, NP_001339079.1:p.Asn129Ser, XP_047295039.1:p.Asn407Ser, XP_047295043.1:p.Asn395Ser, XP_047295038.1:p.Asn436Ser, XP_047295044.1:p.Asn371Ser, XP_047295040.1:p.Asn407Ser, XP_047295041.1:p.Asn407Ser, XP_047295035.1:p.Asn516Ser, XP_047295036.1:p.Asn475Ser, XP_047295042.1:p.Asn397Ser, XP_047295037.1:p.Asn439Ser, XP_047295045.1:p.Asn346Ser, XP_047295046.1:p.Asn325Ser

                                  17.

                                  rs1442051534 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:53109181 (GRCh38)
                                    19:53612434 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53109180:T:C
                                    Gene:
                                    ZNF415 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.53109181T>C, NC_000019.9:g.53612434T>C, NM_001136038.4:c.864A>G, NM_001136038.3:c.864A>G, NM_001136038.2:c.864A>G, NM_018355.4:c.864A>G, NM_018355.3:c.864A>G, NM_001164309.3:c.864A>G, NM_001164309.2:c.864A>G, NM_001164309.1:c.864A>G, XM_024451596.2:c.1095A>G, XM_024451596.1:c.1095A>G, NM_001352130.2:c.1095A>G, NM_001352130.1:c.1095A>G, NM_001352148.2:c.825A>G, NM_001352148.1:c.825A>G, NM_001352133.2:c.1008A>G, NM_001352133.1:c.1008A>G, XM_024451598.2:c.1095A>G, XM_024451598.1:c.1095A>G, NM_001352144.2:c.864A>G, NM_001352144.1:c.864A>G, XM_024451599.2:c.1095A>G, XM_024451599.1:c.1095A>G, NM_001352149.2:c.825A>G, NM_001352149.1:c.825A>G, NM_001330766.2:c.1008A>G, NM_001330766.1:c.1008A>G, NM_001352131.2:c.1095A>G, NM_001352131.1:c.1095A>G, NM_001352137.2:c.972A>G, NM_001352137.1:c.972A>G, XM_006723267.2:c.1095A>G, XM_006723267.1:c.1095A>G, NM_001352132.2:c.1008A>G, NM_001352132.1:c.1008A>G, NM_001352141.2:c.900A>G, NM_001352141.1:c.900A>G, NM_001352134.2:c.1008A>G, NM_001352134.1:c.1008A>G, XM_024451595.2:c.1233A>G, XM_024451595.1:c.1233A>G, XM_017026964.2:c.864A>G, XM_017026964.1:c.864A>G, NM_001352136.2:c.972A>G, NM_001352136.1:c.972A>G, NM_001352143.2:c.864A>G, NM_001352143.1:c.864A>G, XM_024451597.2:c.1095A>G, XM_024451597.1:c.1095A>G, NM_001352138.2:c.900A>G, NM_001352138.1:c.900A>G, NM_001352147.2:c.825A>G, NM_001352147.1:c.825A>G, NM_001352140.2:c.900A>G, NM_001352140.1:c.900A>G, NM_001352146.2:c.864A>G, NM_001352146.1:c.864A>G, NM_001352151.2:c.174A>G, NM_001352151.1:c.174A>G, NM_001352142.2:c.864A>G, NM_001352142.1:c.864A>G, XM_017026960.2:c.1008A>G, XM_017026960.1:c.1008A>G, NM_001352139.2:c.900A>G, NM_001352139.1:c.900A>G, NM_001352135.2:c.1002A>G, NM_001352135.1:c.1002A>G, NM_001330759.2:c.174A>G, NM_001330759.1:c.174A>G, XM_017026969.2:c.777A>G, XM_017026969.1:c.777A>G, NM_001352150.2:c.174A>G, NM_001352150.1:c.174A>G, XM_047439083.1:c.1008A>G, XM_047439087.1:c.972A>G, XM_047439082.1:c.1095A>G, XM_047439088.1:c.900A>G, XM_047439084.1:c.1008A>G, XM_047439085.1:c.1008A>G, XM_047439079.1:c.1335A>G, NR_028343.1:n.1357A>G, XM_047439080.1:c.1212A>G, XM_047439086.1:c.978A>G, XM_047439081.1:c.1104A>G, XM_047439089.1:c.825A>G, XM_047439090.1:c.762A>G

                                    18.

                                    rs1441857424 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      19:53108377 (GRCh38)
                                      19:53611630 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53108376:T:C,NC_000019.10:53108376:T:G
                                      Gene:
                                      ZNF415 (Varview)
                                      Functional Consequence:
                                      terminator_codon_variant,genic_downstream_transcript_variant,stop_lost,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      C=0.000017/4 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.53108377T>C, NC_000019.10:g.53108377T>G, NC_000019.9:g.53611630T>C, NC_000019.9:g.53611630T>G, NM_001136038.4:c.1668A>G, NM_001136038.4:c.1668A>C, NM_001136038.3:c.1668A>G, NM_001136038.3:c.1668A>C, NM_001136038.2:c.1668A>G, NM_001136038.2:c.1668A>C, NM_018355.4:c.1668A>G, NM_018355.4:c.1668A>C, NM_018355.3:c.1668A>G, NM_018355.3:c.1668A>C, NM_001164309.3:c.1668A>G, NM_001164309.3:c.1668A>C, NM_001164309.2:c.1668A>G, NM_001164309.2:c.1668A>C, NM_001164309.1:c.1668A>G, NM_001164309.1:c.1668A>C, XM_024451596.2:c.1899A>G, XM_024451596.2:c.1899A>C, XM_024451596.1:c.1899A>G, XM_024451596.1:c.1899A>C, NM_001352130.2:c.1899A>G, NM_001352130.2:c.1899A>C, NM_001352130.1:c.1899A>G, NM_001352130.1:c.1899A>C, NM_001352148.2:c.1629A>G, NM_001352148.2:c.1629A>C, NM_001352148.1:c.1629A>G, NM_001352148.1:c.1629A>C, NM_001352133.2:c.1812A>G, NM_001352133.2:c.1812A>C, NM_001352133.1:c.1812A>G, NM_001352133.1:c.1812A>C, XM_024451598.2:c.1899A>G, XM_024451598.2:c.1899A>C, XM_024451598.1:c.1899A>G, XM_024451598.1:c.1899A>C, NM_001352144.2:c.1668A>G, NM_001352144.2:c.1668A>C, NM_001352144.1:c.1668A>G, NM_001352144.1:c.1668A>C, XM_024451599.2:c.1899A>G, XM_024451599.2:c.1899A>C, XM_024451599.1:c.1899A>G, XM_024451599.1:c.1899A>C, NM_001352149.2:c.1629A>G, NM_001352149.2:c.1629A>C, NM_001352149.1:c.1629A>G, NM_001352149.1:c.1629A>C, NM_001330766.2:c.1812A>G, NM_001330766.2:c.1812A>C, NM_001330766.1:c.1812A>G, NM_001330766.1:c.1812A>C, NM_001352131.2:c.1899A>G, NM_001352131.2:c.1899A>C, NM_001352131.1:c.1899A>G, NM_001352131.1:c.1899A>C, NM_001352137.2:c.1776A>G, NM_001352137.2:c.1776A>C, NM_001352137.1:c.1776A>G, NM_001352137.1:c.1776A>C, XM_006723267.2:c.1899A>G, XM_006723267.2:c.1899A>C, XM_006723267.1:c.1899A>G, XM_006723267.1:c.1899A>C, NM_001352132.2:c.1812A>G, NM_001352132.2:c.1812A>C, NM_001352132.1:c.1812A>G, NM_001352132.1:c.1812A>C, NM_001352141.2:c.1704A>G, NM_001352141.2:c.1704A>C, NM_001352141.1:c.1704A>G, NM_001352141.1:c.1704A>C, NM_001352134.2:c.1812A>G, NM_001352134.2:c.1812A>C, NM_001352134.1:c.1812A>G, NM_001352134.1:c.1812A>C, XM_024451595.2:c.2037A>G, XM_024451595.2:c.2037A>C, XM_024451595.1:c.2037A>G, XM_024451595.1:c.2037A>C, XM_017026964.2:c.1668A>G, XM_017026964.2:c.1668A>C, XM_017026964.1:c.1668A>G, XM_017026964.1:c.1668A>C, NM_001352136.2:c.1776A>G, NM_001352136.2:c.1776A>C, NM_001352136.1:c.1776A>G, NM_001352136.1:c.1776A>C, NM_001352143.2:c.1668A>G, NM_001352143.2:c.1668A>C, NM_001352143.1:c.1668A>G, NM_001352143.1:c.1668A>C, XM_024451597.2:c.1899A>G, XM_024451597.2:c.1899A>C, XM_024451597.1:c.1899A>G, XM_024451597.1:c.1899A>C, NM_001352138.2:c.1704A>G, NM_001352138.2:c.1704A>C, NM_001352138.1:c.1704A>G, NM_001352138.1:c.1704A>C, NM_001352147.2:c.1629A>G, NM_001352147.2:c.1629A>C, NM_001352147.1:c.1629A>G, NM_001352147.1:c.1629A>C, NM_001352140.2:c.1704A>G, NM_001352140.2:c.1704A>C, NM_001352140.1:c.1704A>G, NM_001352140.1:c.1704A>C, NM_001352146.2:c.1668A>G, NM_001352146.2:c.1668A>C, NM_001352146.1:c.1668A>G, NM_001352146.1:c.1668A>C, NM_001352151.2:c.978A>G, NM_001352151.2:c.978A>C, NM_001352151.1:c.978A>G, NM_001352151.1:c.978A>C, NM_001352142.2:c.1668A>G, NM_001352142.2:c.1668A>C, NM_001352142.1:c.1668A>G, NM_001352142.1:c.1668A>C, XM_017026960.2:c.1812A>G, XM_017026960.2:c.1812A>C, XM_017026960.1:c.1812A>G, XM_017026960.1:c.1812A>C, NM_001352139.2:c.1704A>G, NM_001352139.2:c.1704A>C, NM_001352139.1:c.1704A>G, NM_001352139.1:c.1704A>C, NM_001352135.2:c.1806A>G, NM_001352135.2:c.1806A>C, NM_001352135.1:c.1806A>G, NM_001352135.1:c.1806A>C, NM_001330759.2:c.978A>G, NM_001330759.2:c.978A>C, NM_001330759.1:c.978A>G, NM_001330759.1:c.978A>C, XM_017026969.2:c.1581A>G, XM_017026969.2:c.1581A>C, XM_017026969.1:c.1581A>G, XM_017026969.1:c.1581A>C, NM_001352150.2:c.978A>G, NM_001352150.2:c.978A>C, NM_001352150.1:c.978A>G, NM_001352150.1:c.978A>C, XM_047439083.1:c.1812A>G, XM_047439083.1:c.1812A>C, XM_047439087.1:c.1776A>G, XM_047439087.1:c.1776A>C, XM_047439082.1:c.1899A>G, XM_047439082.1:c.1899A>C, XM_047439088.1:c.1704A>G, XM_047439088.1:c.1704A>C, XM_047439084.1:c.1812A>G, XM_047439084.1:c.1812A>C, XM_047439085.1:c.1812A>G, XM_047439085.1:c.1812A>C, XM_047439079.1:c.2139A>G, XM_047439079.1:c.2139A>C, NR_028343.1:n.2161A>G, NR_028343.1:n.2161A>C, XM_047439080.1:c.2016A>G, XM_047439080.1:c.2016A>C, XM_047439086.1:c.1782A>G, XM_047439086.1:c.1782A>C, XM_047439081.1:c.1908A>G, XM_047439081.1:c.1908A>C, XM_047439089.1:c.1629A>G, XM_047439089.1:c.1629A>C, XM_047439090.1:c.1566A>G, XM_047439090.1:c.1566A>C, NP_001129510.2:p.Ter556Tyr, NP_060825.2:p.Ter556Tyr, NP_001157781.1:p.Ter556Tyr, XP_024307364.1:p.Ter633Tyr, NP_001339059.1:p.Ter633Tyr, NP_001339077.1:p.Ter543Tyr, NP_001339062.1:p.Ter604Tyr, XP_024307366.1:p.Ter633Tyr, NP_001339073.1:p.Ter556Tyr, XP_024307367.1:p.Ter633Tyr, NP_001339078.1:p.Ter543Tyr, NP_001317695.1:p.Ter604Tyr, NP_001339060.1:p.Ter633Tyr, NP_001339066.1:p.Ter592Tyr, XP_006723330.1:p.Ter633Tyr, NP_001339061.1:p.Ter604Tyr, NP_001339070.1:p.Ter568Tyr, NP_001339063.1:p.Ter604Tyr, XP_024307363.1:p.Ter679Tyr, XP_016882453.1:p.Ter556Tyr, NP_001339065.1:p.Ter592Tyr, NP_001339072.1:p.Ter556Tyr, XP_024307365.1:p.Ter633Tyr, NP_001339067.1:p.Ter568Tyr, NP_001339076.1:p.Ter543Tyr, NP_001339069.1:p.Ter568Tyr, NP_001339075.1:p.Ter556Tyr, NP_001339080.1:p.Ter326Tyr, NP_001339071.1:p.Ter556Tyr, XP_016882449.1:p.Ter604Tyr, NP_001339068.1:p.Ter568Tyr, NP_001339064.1:p.Ter602Tyr, NP_001317688.1:p.Ter326Tyr, XP_016882458.1:p.Ter527Tyr, NP_001339079.1:p.Ter326Tyr, XP_047295039.1:p.Ter604Tyr, XP_047295043.1:p.Ter592Tyr, XP_047295038.1:p.Ter633Tyr, XP_047295044.1:p.Ter568Tyr, XP_047295040.1:p.Ter604Tyr, XP_047295041.1:p.Ter604Tyr, XP_047295035.1:p.Ter713Tyr, XP_047295036.1:p.Ter672Tyr, XP_047295042.1:p.Ter594Tyr, XP_047295037.1:p.Ter636Tyr, XP_047295045.1:p.Ter543Tyr, XP_047295046.1:p.Ter522Tyr

                                      19.

                                      rs1437839747 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        19:53108535 (GRCh38)
                                        19:53611788 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53108534:A:C
                                        Gene:
                                        ZNF415 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.53108535A>C, NC_000019.9:g.53611788A>C, NM_001136038.4:c.1510T>G, NM_001136038.3:c.1510T>G, NM_001136038.2:c.1510T>G, NM_018355.4:c.1510T>G, NM_018355.3:c.1510T>G, NM_001164309.3:c.1510T>G, NM_001164309.2:c.1510T>G, NM_001164309.1:c.1510T>G, XM_024451596.2:c.1741T>G, XM_024451596.1:c.1741T>G, NM_001352130.2:c.1741T>G, NM_001352130.1:c.1741T>G, NM_001352148.2:c.1471T>G, NM_001352148.1:c.1471T>G, NM_001352133.2:c.1654T>G, NM_001352133.1:c.1654T>G, XM_024451598.2:c.1741T>G, XM_024451598.1:c.1741T>G, NM_001352144.2:c.1510T>G, NM_001352144.1:c.1510T>G, XM_024451599.2:c.1741T>G, XM_024451599.1:c.1741T>G, NM_001352149.2:c.1471T>G, NM_001352149.1:c.1471T>G, NM_001330766.2:c.1654T>G, NM_001330766.1:c.1654T>G, NM_001352131.2:c.1741T>G, NM_001352131.1:c.1741T>G, NM_001352137.2:c.1618T>G, NM_001352137.1:c.1618T>G, XM_006723267.2:c.1741T>G, XM_006723267.1:c.1741T>G, NM_001352132.2:c.1654T>G, NM_001352132.1:c.1654T>G, NM_001352141.2:c.1546T>G, NM_001352141.1:c.1546T>G, NM_001352134.2:c.1654T>G, NM_001352134.1:c.1654T>G, XM_024451595.2:c.1879T>G, XM_024451595.1:c.1879T>G, XM_017026964.2:c.1510T>G, XM_017026964.1:c.1510T>G, NM_001352136.2:c.1618T>G, NM_001352136.1:c.1618T>G, NM_001352143.2:c.1510T>G, NM_001352143.1:c.1510T>G, XM_024451597.2:c.1741T>G, XM_024451597.1:c.1741T>G, NM_001352138.2:c.1546T>G, NM_001352138.1:c.1546T>G, NM_001352147.2:c.1471T>G, NM_001352147.1:c.1471T>G, NM_001352140.2:c.1546T>G, NM_001352140.1:c.1546T>G, NM_001352146.2:c.1510T>G, NM_001352146.1:c.1510T>G, NM_001352151.2:c.820T>G, NM_001352151.1:c.820T>G, NM_001352142.2:c.1510T>G, NM_001352142.1:c.1510T>G, XM_017026960.2:c.1654T>G, XM_017026960.1:c.1654T>G, NM_001352139.2:c.1546T>G, NM_001352139.1:c.1546T>G, NM_001352135.2:c.1648T>G, NM_001352135.1:c.1648T>G, NM_001330759.2:c.820T>G, NM_001330759.1:c.820T>G, XM_017026969.2:c.1423T>G, XM_017026969.1:c.1423T>G, NM_001352150.2:c.820T>G, NM_001352150.1:c.820T>G, XM_047439083.1:c.1654T>G, XM_047439087.1:c.1618T>G, XM_047439082.1:c.1741T>G, XM_047439088.1:c.1546T>G, XM_047439084.1:c.1654T>G, XM_047439085.1:c.1654T>G, XM_047439079.1:c.1981T>G, NR_028343.1:n.2003T>G, XM_047439080.1:c.1858T>G, XM_047439086.1:c.1624T>G, XM_047439081.1:c.1750T>G, XM_047439089.1:c.1471T>G, XM_047439090.1:c.1408T>G, NP_001129510.2:p.Ser504Ala, NP_060825.2:p.Ser504Ala, NP_001157781.1:p.Ser504Ala, XP_024307364.1:p.Ser581Ala, NP_001339059.1:p.Ser581Ala, NP_001339077.1:p.Ser491Ala, NP_001339062.1:p.Ser552Ala, XP_024307366.1:p.Ser581Ala, NP_001339073.1:p.Ser504Ala, XP_024307367.1:p.Ser581Ala, NP_001339078.1:p.Ser491Ala, NP_001317695.1:p.Ser552Ala, NP_001339060.1:p.Ser581Ala, NP_001339066.1:p.Ser540Ala, XP_006723330.1:p.Ser581Ala, NP_001339061.1:p.Ser552Ala, NP_001339070.1:p.Ser516Ala, NP_001339063.1:p.Ser552Ala, XP_024307363.1:p.Ser627Ala, XP_016882453.1:p.Ser504Ala, NP_001339065.1:p.Ser540Ala, NP_001339072.1:p.Ser504Ala, XP_024307365.1:p.Ser581Ala, NP_001339067.1:p.Ser516Ala, NP_001339076.1:p.Ser491Ala, NP_001339069.1:p.Ser516Ala, NP_001339075.1:p.Ser504Ala, NP_001339080.1:p.Ser274Ala, NP_001339071.1:p.Ser504Ala, XP_016882449.1:p.Ser552Ala, NP_001339068.1:p.Ser516Ala, NP_001339064.1:p.Ser550Ala, NP_001317688.1:p.Ser274Ala, XP_016882458.1:p.Ser475Ala, NP_001339079.1:p.Ser274Ala, XP_047295039.1:p.Ser552Ala, XP_047295043.1:p.Ser540Ala, XP_047295038.1:p.Ser581Ala, XP_047295044.1:p.Ser516Ala, XP_047295040.1:p.Ser552Ala, XP_047295041.1:p.Ser552Ala, XP_047295035.1:p.Ser661Ala, XP_047295036.1:p.Ser620Ala, XP_047295042.1:p.Ser542Ala, XP_047295037.1:p.Ser584Ala, XP_047295045.1:p.Ser491Ala, XP_047295046.1:p.Ser470Ala

                                        20.

                                        rs1436716484 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          19:53108767 (GRCh38)
                                          19:53612020 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53108766:G:A,NC_000019.10:53108766:G:C
                                          Gene:
                                          ZNF415 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          C=0.000342/1 (KOREAN)
                                          HGVS:
                                          NC_000019.10:g.53108767G>A, NC_000019.10:g.53108767G>C, NC_000019.9:g.53612020G>A, NC_000019.9:g.53612020G>C, NM_001136038.4:c.1278C>T, NM_001136038.4:c.1278C>G, NM_001136038.3:c.1278C>T, NM_001136038.3:c.1278C>G, NM_001136038.2:c.1278C>T, NM_001136038.2:c.1278C>G, NM_018355.4:c.1278C>T, NM_018355.4:c.1278C>G, NM_018355.3:c.1278C>T, NM_018355.3:c.1278C>G, NM_001164309.3:c.1278C>T, NM_001164309.3:c.1278C>G, NM_001164309.2:c.1278C>T, NM_001164309.2:c.1278C>G, NM_001164309.1:c.1278C>T, NM_001164309.1:c.1278C>G, XM_024451596.2:c.1509C>T, XM_024451596.2:c.1509C>G, XM_024451596.1:c.1509C>T, XM_024451596.1:c.1509C>G, NM_001352130.2:c.1509C>T, NM_001352130.2:c.1509C>G, NM_001352130.1:c.1509C>T, NM_001352130.1:c.1509C>G, NM_001352148.2:c.1239C>T, NM_001352148.2:c.1239C>G, NM_001352148.1:c.1239C>T, NM_001352148.1:c.1239C>G, NM_001352133.2:c.1422C>T, NM_001352133.2:c.1422C>G, NM_001352133.1:c.1422C>T, NM_001352133.1:c.1422C>G, XM_024451598.2:c.1509C>T, XM_024451598.2:c.1509C>G, XM_024451598.1:c.1509C>T, XM_024451598.1:c.1509C>G, NM_001352144.2:c.1278C>T, NM_001352144.2:c.1278C>G, NM_001352144.1:c.1278C>T, NM_001352144.1:c.1278C>G, XM_024451599.2:c.1509C>T, XM_024451599.2:c.1509C>G, XM_024451599.1:c.1509C>T, XM_024451599.1:c.1509C>G, NM_001352149.2:c.1239C>T, NM_001352149.2:c.1239C>G, NM_001352149.1:c.1239C>T, NM_001352149.1:c.1239C>G, NM_001330766.2:c.1422C>T, NM_001330766.2:c.1422C>G, NM_001330766.1:c.1422C>T, NM_001330766.1:c.1422C>G, NM_001352131.2:c.1509C>T, NM_001352131.2:c.1509C>G, NM_001352131.1:c.1509C>T, NM_001352131.1:c.1509C>G, NM_001352137.2:c.1386C>T, NM_001352137.2:c.1386C>G, NM_001352137.1:c.1386C>T, NM_001352137.1:c.1386C>G, XM_006723267.2:c.1509C>T, XM_006723267.2:c.1509C>G, XM_006723267.1:c.1509C>T, XM_006723267.1:c.1509C>G, NM_001352132.2:c.1422C>T, NM_001352132.2:c.1422C>G, NM_001352132.1:c.1422C>T, NM_001352132.1:c.1422C>G, NM_001352141.2:c.1314C>T, NM_001352141.2:c.1314C>G, NM_001352141.1:c.1314C>T, NM_001352141.1:c.1314C>G, NM_001352134.2:c.1422C>T, NM_001352134.2:c.1422C>G, NM_001352134.1:c.1422C>T, NM_001352134.1:c.1422C>G, XM_024451595.2:c.1647C>T, XM_024451595.2:c.1647C>G, XM_024451595.1:c.1647C>T, XM_024451595.1:c.1647C>G, XM_017026964.2:c.1278C>T, XM_017026964.2:c.1278C>G, XM_017026964.1:c.1278C>T, XM_017026964.1:c.1278C>G, NM_001352136.2:c.1386C>T, NM_001352136.2:c.1386C>G, NM_001352136.1:c.1386C>T, NM_001352136.1:c.1386C>G, NM_001352143.2:c.1278C>T, NM_001352143.2:c.1278C>G, NM_001352143.1:c.1278C>T, NM_001352143.1:c.1278C>G, XM_024451597.2:c.1509C>T, XM_024451597.2:c.1509C>G, XM_024451597.1:c.1509C>T, XM_024451597.1:c.1509C>G, NM_001352138.2:c.1314C>T, NM_001352138.2:c.1314C>G, NM_001352138.1:c.1314C>T, NM_001352138.1:c.1314C>G, NM_001352147.2:c.1239C>T, NM_001352147.2:c.1239C>G, NM_001352147.1:c.1239C>T, NM_001352147.1:c.1239C>G, NM_001352140.2:c.1314C>T, NM_001352140.2:c.1314C>G, NM_001352140.1:c.1314C>T, NM_001352140.1:c.1314C>G, NM_001352146.2:c.1278C>T, NM_001352146.2:c.1278C>G, NM_001352146.1:c.1278C>T, NM_001352146.1:c.1278C>G, NM_001352151.2:c.588C>T, NM_001352151.2:c.588C>G, NM_001352151.1:c.588C>T, NM_001352151.1:c.588C>G, NM_001352142.2:c.1278C>T, NM_001352142.2:c.1278C>G, NM_001352142.1:c.1278C>T, NM_001352142.1:c.1278C>G, XM_017026960.2:c.1422C>T, XM_017026960.2:c.1422C>G, XM_017026960.1:c.1422C>T, XM_017026960.1:c.1422C>G, NM_001352139.2:c.1314C>T, NM_001352139.2:c.1314C>G, NM_001352139.1:c.1314C>T, NM_001352139.1:c.1314C>G, NM_001352135.2:c.1416C>T, NM_001352135.2:c.1416C>G, NM_001352135.1:c.1416C>T, NM_001352135.1:c.1416C>G, NM_001330759.2:c.588C>T, NM_001330759.2:c.588C>G, NM_001330759.1:c.588C>T, NM_001330759.1:c.588C>G, XM_017026969.2:c.1191C>T, XM_017026969.2:c.1191C>G, XM_017026969.1:c.1191C>T, XM_017026969.1:c.1191C>G, NM_001352150.2:c.588C>T, NM_001352150.2:c.588C>G, NM_001352150.1:c.588C>T, NM_001352150.1:c.588C>G, XM_047439083.1:c.1422C>T, XM_047439083.1:c.1422C>G, XM_047439087.1:c.1386C>T, XM_047439087.1:c.1386C>G, XM_047439082.1:c.1509C>T, XM_047439082.1:c.1509C>G, XM_047439088.1:c.1314C>T, XM_047439088.1:c.1314C>G, XM_047439084.1:c.1422C>T, XM_047439084.1:c.1422C>G, XM_047439085.1:c.1422C>T, XM_047439085.1:c.1422C>G, XM_047439079.1:c.1749C>T, XM_047439079.1:c.1749C>G, NR_028343.1:n.1771C>T, NR_028343.1:n.1771C>G, XM_047439080.1:c.1626C>T, XM_047439080.1:c.1626C>G, XM_047439086.1:c.1392C>T, XM_047439086.1:c.1392C>G, XM_047439081.1:c.1518C>T, XM_047439081.1:c.1518C>G, XM_047439089.1:c.1239C>T, XM_047439089.1:c.1239C>G, XM_047439090.1:c.1176C>T, XM_047439090.1:c.1176C>G, NP_001129510.2:p.His426Gln, NP_060825.2:p.His426Gln, NP_001157781.1:p.His426Gln, XP_024307364.1:p.His503Gln, NP_001339059.1:p.His503Gln, NP_001339077.1:p.His413Gln, NP_001339062.1:p.His474Gln, XP_024307366.1:p.His503Gln, NP_001339073.1:p.His426Gln, XP_024307367.1:p.His503Gln, NP_001339078.1:p.His413Gln, NP_001317695.1:p.His474Gln, NP_001339060.1:p.His503Gln, NP_001339066.1:p.His462Gln, XP_006723330.1:p.His503Gln, NP_001339061.1:p.His474Gln, NP_001339070.1:p.His438Gln, NP_001339063.1:p.His474Gln, XP_024307363.1:p.His549Gln, XP_016882453.1:p.His426Gln, NP_001339065.1:p.His462Gln, NP_001339072.1:p.His426Gln, XP_024307365.1:p.His503Gln, NP_001339067.1:p.His438Gln, NP_001339076.1:p.His413Gln, NP_001339069.1:p.His438Gln, NP_001339075.1:p.His426Gln, NP_001339080.1:p.His196Gln, NP_001339071.1:p.His426Gln, XP_016882449.1:p.His474Gln, NP_001339068.1:p.His438Gln, NP_001339064.1:p.His472Gln, NP_001317688.1:p.His196Gln, XP_016882458.1:p.His397Gln, NP_001339079.1:p.His196Gln, XP_047295039.1:p.His474Gln, XP_047295043.1:p.His462Gln, XP_047295038.1:p.His503Gln, XP_047295044.1:p.His438Gln, XP_047295040.1:p.His474Gln, XP_047295041.1:p.His474Gln, XP_047295035.1:p.His583Gln, XP_047295036.1:p.His542Gln, XP_047295042.1:p.His464Gln, XP_047295037.1:p.His506Gln, XP_047295045.1:p.His413Gln, XP_047295046.1:p.His392Gln

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