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Items: 1 to 20 of 362

1.

rs1490746878 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    19:53577705 (GRCh38)
    19:54080959 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53577704:C:G
    Gene:
    ZNF331 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000019.10:g.53577705C>G, NC_000019.9:g.54080959C>G, NG_045232.1:g.61783C>G, NM_018555.6:c.1145C>G, NM_018555.5:c.1145C>G, NM_001253800.3:c.1145C>G, NM_001253800.2:c.1145C>G, NM_001253800.1:c.1145C>G, NM_001317120.2:c.1145C>G, NM_001317120.1:c.1145C>G, NM_001317114.2:c.1145C>G, NM_001317114.1:c.1145C>G, NM_001253798.2:c.1145C>G, NM_001253798.1:c.1145C>G, NM_001253799.2:c.1145C>G, NM_001253799.1:c.1145C>G, NM_001317115.2:c.1145C>G, NM_001317115.1:c.1145C>G, NM_001079906.2:c.1145C>G, NM_001079906.1:c.1145C>G, NM_001253801.2:c.1145C>G, NM_001253801.1:c.1145C>G, NM_001317113.2:c.1145C>G, NM_001317113.1:c.1145C>G, NM_001317116.2:c.1145C>G, NM_001317116.1:c.1145C>G, NM_001317118.1:c.1145C>G, NM_001079907.1:c.1145C>G, NM_001317119.1:c.1145C>G, NM_001317117.1:c.1145C>G, NM_001317121.1:c.1145C>G, XM_011527076.4:c.1145C>G, XM_011527076.3:c.1145C>G, XM_011527076.2:c.1145C>G, XM_011527076.1:c.1145C>G, XM_011527078.4:c.1145C>G, XM_011527078.3:c.1145C>G, XM_011527078.2:c.1145C>G, XM_011527078.1:c.1145C>G, XM_017026940.2:c.1145C>G, XM_017026940.1:c.1145C>G, XM_047439054.1:c.1145C>G, XM_047439050.1:c.1145C>G, XM_047439053.1:c.1145C>G, XM_047439051.1:c.1145C>G, XM_047439057.1:c.1145C>G, XM_047439055.1:c.1145C>G, XM_047439049.1:c.1145C>G, XM_047439059.1:c.1145C>G, XM_047439060.1:c.1145C>G, XM_047439058.1:c.1145C>G, XM_047439056.1:c.1145C>G, NP_061025.5:p.Pro382Arg, NP_001240729.1:p.Pro382Arg, NP_001304049.1:p.Pro382Arg, NP_001304043.1:p.Pro382Arg, NP_001240727.1:p.Pro382Arg, NP_001240728.1:p.Pro382Arg, NP_001304044.1:p.Pro382Arg, NP_001073375.1:p.Pro382Arg, NP_001240730.1:p.Pro382Arg, NP_001304042.1:p.Pro382Arg, NP_001304045.1:p.Pro382Arg, NP_001304047.1:p.Pro382Arg, NP_001073376.1:p.Pro382Arg, NP_001304048.1:p.Pro382Arg, NP_001304046.1:p.Pro382Arg, NP_001304050.1:p.Pro382Arg, XP_011525378.1:p.Pro382Arg, XP_011525380.1:p.Pro382Arg, XP_016882429.1:p.Pro382Arg, XP_047295010.1:p.Pro382Arg, XP_047295006.1:p.Pro382Arg, XP_047295009.1:p.Pro382Arg, XP_047295007.1:p.Pro382Arg, XP_047295013.1:p.Pro382Arg, XP_047295011.1:p.Pro382Arg, XP_047295005.1:p.Pro382Arg, XP_047295015.1:p.Pro382Arg, XP_047295016.1:p.Pro382Arg, XP_047295014.1:p.Pro382Arg, XP_047295012.1:p.Pro382Arg

    2.

    rs1489078601 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TT [Show Flanks]
      Chromosome:
      19:53577151 (GRCh38)
      19:54080406 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53577151:T:TTT
      Gene:
      ZNF331 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTT=0.0004/2 (ALFA)
      HGVS:
      NC_000019.10:g.53577152_53577153insTT, NC_000019.9:g.54080406_54080407insTT, NG_045232.1:g.61230_61231insTT, NM_018555.6:c.592_593insTT, NM_018555.5:c.592_593insTT, NM_001253800.3:c.592_593insTT, NM_001253800.2:c.592_593insTT, NM_001253800.1:c.592_593insTT, NM_001317120.2:c.592_593insTT, NM_001317120.1:c.592_593insTT, NM_001317114.2:c.592_593insTT, NM_001317114.1:c.592_593insTT, NM_001253798.2:c.592_593insTT, NM_001253798.1:c.592_593insTT, NM_001253799.2:c.592_593insTT, NM_001253799.1:c.592_593insTT, NM_001317115.2:c.592_593insTT, NM_001317115.1:c.592_593insTT, NM_001079906.2:c.592_593insTT, NM_001079906.1:c.592_593insTT, NM_001253801.2:c.592_593insTT, NM_001253801.1:c.592_593insTT, NM_001317113.2:c.592_593insTT, NM_001317113.1:c.592_593insTT, NM_001317116.2:c.592_593insTT, NM_001317116.1:c.592_593insTT, NM_001317118.1:c.592_593insTT, NM_001079907.1:c.592_593insTT, NM_001317119.1:c.592_593insTT, NM_001317117.1:c.592_593insTT, NM_001317121.1:c.592_593insTT, XM_011527076.4:c.592_593insTT, XM_011527076.3:c.592_593insTT, XM_011527076.2:c.592_593insTT, XM_011527076.1:c.592_593insTT, XM_011527078.4:c.592_593insTT, XM_011527078.3:c.592_593insTT, XM_011527078.2:c.592_593insTT, XM_011527078.1:c.592_593insTT, XM_017026940.2:c.592_593insTT, XM_017026940.1:c.592_593insTT, XM_047439054.1:c.592_593insTT, XM_047439050.1:c.592_593insTT, XM_047439053.1:c.592_593insTT, XM_047439051.1:c.592_593insTT, XM_047439057.1:c.592_593insTT, XM_047439055.1:c.592_593insTT, XM_047439049.1:c.592_593insTT, XM_047439059.1:c.592_593insTT, XM_047439060.1:c.592_593insTT, XM_047439058.1:c.592_593insTT, XM_047439056.1:c.592_593insTT, NP_061025.5:p.Trp198fs, NP_001240729.1:p.Trp198fs, NP_001304049.1:p.Trp198fs, NP_001304043.1:p.Trp198fs, NP_001240727.1:p.Trp198fs, NP_001240728.1:p.Trp198fs, NP_001304044.1:p.Trp198fs, NP_001073375.1:p.Trp198fs, NP_001240730.1:p.Trp198fs, NP_001304042.1:p.Trp198fs, NP_001304045.1:p.Trp198fs, NP_001304047.1:p.Trp198fs, NP_001073376.1:p.Trp198fs, NP_001304048.1:p.Trp198fs, NP_001304046.1:p.Trp198fs, NP_001304050.1:p.Trp198fs, XP_011525378.1:p.Trp198fs, XP_011525380.1:p.Trp198fs, XP_016882429.1:p.Trp198fs, XP_047295010.1:p.Trp198fs, XP_047295006.1:p.Trp198fs, XP_047295009.1:p.Trp198fs, XP_047295007.1:p.Trp198fs, XP_047295013.1:p.Trp198fs, XP_047295011.1:p.Trp198fs, XP_047295005.1:p.Trp198fs, XP_047295015.1:p.Trp198fs, XP_047295016.1:p.Trp198fs, XP_047295014.1:p.Trp198fs, XP_047295012.1:p.Trp198fs

      3.

      rs1487602529 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:53571713 (GRCh38)
        19:54074967 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53571712:G:A
        Gene:
        ZNF331 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.53571713G>A, NC_000019.9:g.54074967G>A, NG_045232.1:g.55791G>A, NM_018555.6:c.119G>A, NM_018555.5:c.119G>A, NM_001253800.3:c.119G>A, NM_001253800.2:c.119G>A, NM_001253800.1:c.119G>A, NM_001317120.2:c.119G>A, NM_001317120.1:c.119G>A, NM_001317114.2:c.119G>A, NM_001317114.1:c.119G>A, NM_001253798.2:c.119G>A, NM_001253798.1:c.119G>A, NM_001253799.2:c.119G>A, NM_001253799.1:c.119G>A, NM_001317115.2:c.119G>A, NM_001317115.1:c.119G>A, NM_001079906.2:c.119G>A, NM_001079906.1:c.119G>A, NM_001253801.2:c.119G>A, NM_001253801.1:c.119G>A, NM_001317113.2:c.119G>A, NM_001317113.1:c.119G>A, NM_001317116.2:c.119G>A, NM_001317116.1:c.119G>A, NM_001317118.1:c.119G>A, NM_001079907.1:c.119G>A, NM_001317119.1:c.119G>A, NM_001317117.1:c.119G>A, NM_001317121.1:c.119G>A, XM_011527076.4:c.119G>A, XM_011527076.3:c.119G>A, XM_011527076.2:c.119G>A, XM_011527076.1:c.119G>A, XM_011527078.4:c.119G>A, XM_011527078.3:c.119G>A, XM_011527078.2:c.119G>A, XM_011527078.1:c.119G>A, XM_017026940.2:c.119G>A, XM_017026940.1:c.119G>A, XM_047439054.1:c.119G>A, XM_047439050.1:c.119G>A, XM_047439053.1:c.119G>A, XM_047439051.1:c.119G>A, XM_047439057.1:c.119G>A, XM_047439055.1:c.119G>A, XM_047439049.1:c.119G>A, XM_047439059.1:c.119G>A, XM_047439060.1:c.119G>A, XM_047439058.1:c.119G>A, XM_047439056.1:c.119G>A, NP_061025.5:p.Ser40Asn, NP_001240729.1:p.Ser40Asn, NP_001304049.1:p.Ser40Asn, NP_001304043.1:p.Ser40Asn, NP_001240727.1:p.Ser40Asn, NP_001240728.1:p.Ser40Asn, NP_001304044.1:p.Ser40Asn, NP_001073375.1:p.Ser40Asn, NP_001240730.1:p.Ser40Asn, NP_001304042.1:p.Ser40Asn, NP_001304045.1:p.Ser40Asn, NP_001304047.1:p.Ser40Asn, NP_001073376.1:p.Ser40Asn, NP_001304048.1:p.Ser40Asn, NP_001304046.1:p.Ser40Asn, NP_001304050.1:p.Ser40Asn, XP_011525378.1:p.Ser40Asn, XP_011525380.1:p.Ser40Asn, XP_016882429.1:p.Ser40Asn, XP_047295010.1:p.Ser40Asn, XP_047295006.1:p.Ser40Asn, XP_047295009.1:p.Ser40Asn, XP_047295007.1:p.Ser40Asn, XP_047295013.1:p.Ser40Asn, XP_047295011.1:p.Ser40Asn, XP_047295005.1:p.Ser40Asn, XP_047295015.1:p.Ser40Asn, XP_047295016.1:p.Ser40Asn, XP_047295014.1:p.Ser40Asn, XP_047295012.1:p.Ser40Asn

        4.

        rs1486257171 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:53577127 (GRCh38)
          19:54080381 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53577126:T:C
          Gene:
          ZNF331 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.53577127T>C, NC_000019.9:g.54080381T>C, NG_045232.1:g.61205T>C, NM_018555.6:c.567T>C, NM_018555.5:c.567T>C, NM_001253800.3:c.567T>C, NM_001253800.2:c.567T>C, NM_001253800.1:c.567T>C, NM_001317120.2:c.567T>C, NM_001317120.1:c.567T>C, NM_001317114.2:c.567T>C, NM_001317114.1:c.567T>C, NM_001253798.2:c.567T>C, NM_001253798.1:c.567T>C, NM_001253799.2:c.567T>C, NM_001253799.1:c.567T>C, NM_001317115.2:c.567T>C, NM_001317115.1:c.567T>C, NM_001079906.2:c.567T>C, NM_001079906.1:c.567T>C, NM_001253801.2:c.567T>C, NM_001253801.1:c.567T>C, NM_001317113.2:c.567T>C, NM_001317113.1:c.567T>C, NM_001317116.2:c.567T>C, NM_001317116.1:c.567T>C, NM_001317118.1:c.567T>C, NM_001079907.1:c.567T>C, NM_001317119.1:c.567T>C, NM_001317117.1:c.567T>C, NM_001317121.1:c.567T>C, XM_011527076.4:c.567T>C, XM_011527076.3:c.567T>C, XM_011527076.2:c.567T>C, XM_011527076.1:c.567T>C, XM_011527078.4:c.567T>C, XM_011527078.3:c.567T>C, XM_011527078.2:c.567T>C, XM_011527078.1:c.567T>C, XM_017026940.2:c.567T>C, XM_017026940.1:c.567T>C, XM_047439054.1:c.567T>C, XM_047439050.1:c.567T>C, XM_047439053.1:c.567T>C, XM_047439051.1:c.567T>C, XM_047439057.1:c.567T>C, XM_047439055.1:c.567T>C, XM_047439049.1:c.567T>C, XM_047439059.1:c.567T>C, XM_047439060.1:c.567T>C, XM_047439058.1:c.567T>C, XM_047439056.1:c.567T>C

          5.

          rs1476651136 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:53577920 (GRCh38)
            19:54081174 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53577919:C:T
            Gene:
            ZNF331 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            NC_000019.10:g.53577920C>T, NC_000019.9:g.54081174C>T, NG_045232.1:g.61998C>T, NM_018555.6:c.1360C>T, NM_018555.5:c.1360C>T, NM_001253800.3:c.1360C>T, NM_001253800.2:c.1360C>T, NM_001253800.1:c.1360C>T, NM_001317120.2:c.1360C>T, NM_001317120.1:c.1360C>T, NM_001317114.2:c.1360C>T, NM_001317114.1:c.1360C>T, NM_001253798.2:c.1360C>T, NM_001253798.1:c.1360C>T, NM_001253799.2:c.1360C>T, NM_001253799.1:c.1360C>T, NM_001317115.2:c.1360C>T, NM_001317115.1:c.1360C>T, NM_001079906.2:c.1360C>T, NM_001079906.1:c.1360C>T, NM_001253801.2:c.1360C>T, NM_001253801.1:c.1360C>T, NM_001317113.2:c.1360C>T, NM_001317113.1:c.1360C>T, NM_001317116.2:c.1360C>T, NM_001317116.1:c.1360C>T, NM_001317118.1:c.1360C>T, NM_001079907.1:c.1360C>T, NM_001317119.1:c.1360C>T, NM_001317117.1:c.1360C>T, NM_001317121.1:c.1360C>T, XM_011527076.4:c.1360C>T, XM_011527076.3:c.1360C>T, XM_011527076.2:c.1360C>T, XM_011527076.1:c.1360C>T, XM_011527078.4:c.1360C>T, XM_011527078.3:c.1360C>T, XM_011527078.2:c.1360C>T, XM_011527078.1:c.1360C>T, XM_017026940.2:c.1360C>T, XM_017026940.1:c.1360C>T, XM_047439054.1:c.1360C>T, XM_047439050.1:c.1360C>T, XM_047439053.1:c.1360C>T, XM_047439051.1:c.1360C>T, XM_047439057.1:c.1360C>T, XM_047439055.1:c.1360C>T, XM_047439049.1:c.1360C>T, XM_047439059.1:c.1360C>T, XM_047439060.1:c.1360C>T, XM_047439058.1:c.1360C>T, XM_047439056.1:c.1360C>T, NP_061025.5:p.Leu454Phe, NP_001240729.1:p.Leu454Phe, NP_001304049.1:p.Leu454Phe, NP_001304043.1:p.Leu454Phe, NP_001240727.1:p.Leu454Phe, NP_001240728.1:p.Leu454Phe, NP_001304044.1:p.Leu454Phe, NP_001073375.1:p.Leu454Phe, NP_001240730.1:p.Leu454Phe, NP_001304042.1:p.Leu454Phe, NP_001304045.1:p.Leu454Phe, NP_001304047.1:p.Leu454Phe, NP_001073376.1:p.Leu454Phe, NP_001304048.1:p.Leu454Phe, NP_001304046.1:p.Leu454Phe, NP_001304050.1:p.Leu454Phe, XP_011525378.1:p.Leu454Phe, XP_011525380.1:p.Leu454Phe, XP_016882429.1:p.Leu454Phe, XP_047295010.1:p.Leu454Phe, XP_047295006.1:p.Leu454Phe, XP_047295009.1:p.Leu454Phe, XP_047295007.1:p.Leu454Phe, XP_047295013.1:p.Leu454Phe, XP_047295011.1:p.Leu454Phe, XP_047295005.1:p.Leu454Phe, XP_047295015.1:p.Leu454Phe, XP_047295016.1:p.Leu454Phe, XP_047295014.1:p.Leu454Phe, XP_047295012.1:p.Leu454Phe

            6.

            rs1476112027 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              19:53576735 (GRCh38)
              19:54079990 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53576735:AAAAAAA:AAAAAAAA
              Gene:
              ZNF331 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant
              HGVS:
              NC_000019.10:g.53576742dup, NC_000019.9:g.54079996dup, NG_045232.1:g.60820dup, NM_018555.6:c.182dup, NM_018555.5:c.182dup, NM_001253800.3:c.182dup, NM_001253800.2:c.182dup, NM_001253800.1:c.182dup, NM_001317120.2:c.182dup, NM_001317120.1:c.182dup, NM_001317114.2:c.182dup, NM_001317114.1:c.182dup, NM_001253798.2:c.182dup, NM_001253798.1:c.182dup, NM_001253799.2:c.182dup, NM_001253799.1:c.182dup, NM_001317115.2:c.182dup, NM_001317115.1:c.182dup, NM_001079906.2:c.182dup, NM_001079906.1:c.182dup, NM_001253801.2:c.182dup, NM_001253801.1:c.182dup, NM_001317113.2:c.182dup, NM_001317113.1:c.182dup, NM_001317116.2:c.182dup, NM_001317116.1:c.182dup, NM_001317118.1:c.182dup, NM_001079907.1:c.182dup, NM_001317119.1:c.182dup, NM_001317117.1:c.182dup, NM_001317121.1:c.182dup, XM_011527076.4:c.182dup, XM_011527076.3:c.182dup, XM_011527076.2:c.182dup, XM_011527076.1:c.182dup, XM_011527078.4:c.182dup, XM_011527078.3:c.182dup, XM_011527078.2:c.182dup, XM_011527078.1:c.182dup, XM_017026940.2:c.182dup, XM_017026940.1:c.182dup, XM_047439054.1:c.182dup, XM_047439050.1:c.182dup, XM_047439053.1:c.182dup, XM_047439051.1:c.182dup, XM_047439057.1:c.182dup, XM_047439055.1:c.182dup, XM_047439049.1:c.182dup, XM_047439059.1:c.182dup, XM_047439060.1:c.182dup, XM_047439058.1:c.182dup, XM_047439056.1:c.182dup, NP_061025.5:p.Asn61fs, NP_001240729.1:p.Asn61fs, NP_001304049.1:p.Asn61fs, NP_001304043.1:p.Asn61fs, NP_001240727.1:p.Asn61fs, NP_001240728.1:p.Asn61fs, NP_001304044.1:p.Asn61fs, NP_001073375.1:p.Asn61fs, NP_001240730.1:p.Asn61fs, NP_001304042.1:p.Asn61fs, NP_001304045.1:p.Asn61fs, NP_001304047.1:p.Asn61fs, NP_001073376.1:p.Asn61fs, NP_001304048.1:p.Asn61fs, NP_001304046.1:p.Asn61fs, NP_001304050.1:p.Asn61fs, XP_011525378.1:p.Asn61fs, XP_011525380.1:p.Asn61fs, XP_016882429.1:p.Asn61fs, XP_047295010.1:p.Asn61fs, XP_047295006.1:p.Asn61fs, XP_047295009.1:p.Asn61fs, XP_047295007.1:p.Asn61fs, XP_047295013.1:p.Asn61fs, XP_047295011.1:p.Asn61fs, XP_047295005.1:p.Asn61fs, XP_047295015.1:p.Asn61fs, XP_047295016.1:p.Asn61fs, XP_047295014.1:p.Asn61fs, XP_047295012.1:p.Asn61fs

              7.

              rs1472857370 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                19:53577682 (GRCh38)
                19:54080936 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53577681:G:C
                Gene:
                ZNF331 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.53577682G>C, NC_000019.9:g.54080936G>C, NG_045232.1:g.61760G>C, NM_018555.6:c.1122G>C, NM_018555.5:c.1122G>C, NM_001253800.3:c.1122G>C, NM_001253800.2:c.1122G>C, NM_001253800.1:c.1122G>C, NM_001317120.2:c.1122G>C, NM_001317120.1:c.1122G>C, NM_001317114.2:c.1122G>C, NM_001317114.1:c.1122G>C, NM_001253798.2:c.1122G>C, NM_001253798.1:c.1122G>C, NM_001253799.2:c.1122G>C, NM_001253799.1:c.1122G>C, NM_001317115.2:c.1122G>C, NM_001317115.1:c.1122G>C, NM_001079906.2:c.1122G>C, NM_001079906.1:c.1122G>C, NM_001253801.2:c.1122G>C, NM_001253801.1:c.1122G>C, NM_001317113.2:c.1122G>C, NM_001317113.1:c.1122G>C, NM_001317116.2:c.1122G>C, NM_001317116.1:c.1122G>C, NM_001317118.1:c.1122G>C, NM_001079907.1:c.1122G>C, NM_001317119.1:c.1122G>C, NM_001317117.1:c.1122G>C, NM_001317121.1:c.1122G>C, XM_011527076.4:c.1122G>C, XM_011527076.3:c.1122G>C, XM_011527076.2:c.1122G>C, XM_011527076.1:c.1122G>C, XM_011527078.4:c.1122G>C, XM_011527078.3:c.1122G>C, XM_011527078.2:c.1122G>C, XM_011527078.1:c.1122G>C, XM_017026940.2:c.1122G>C, XM_017026940.1:c.1122G>C, XM_047439054.1:c.1122G>C, XM_047439050.1:c.1122G>C, XM_047439053.1:c.1122G>C, XM_047439051.1:c.1122G>C, XM_047439057.1:c.1122G>C, XM_047439055.1:c.1122G>C, XM_047439049.1:c.1122G>C, XM_047439059.1:c.1122G>C, XM_047439060.1:c.1122G>C, XM_047439058.1:c.1122G>C, XM_047439056.1:c.1122G>C, NP_061025.5:p.Glu374Asp, NP_001240729.1:p.Glu374Asp, NP_001304049.1:p.Glu374Asp, NP_001304043.1:p.Glu374Asp, NP_001240727.1:p.Glu374Asp, NP_001240728.1:p.Glu374Asp, NP_001304044.1:p.Glu374Asp, NP_001073375.1:p.Glu374Asp, NP_001240730.1:p.Glu374Asp, NP_001304042.1:p.Glu374Asp, NP_001304045.1:p.Glu374Asp, NP_001304047.1:p.Glu374Asp, NP_001073376.1:p.Glu374Asp, NP_001304048.1:p.Glu374Asp, NP_001304046.1:p.Glu374Asp, NP_001304050.1:p.Glu374Asp, XP_011525378.1:p.Glu374Asp, XP_011525380.1:p.Glu374Asp, XP_016882429.1:p.Glu374Asp, XP_047295010.1:p.Glu374Asp, XP_047295006.1:p.Glu374Asp, XP_047295009.1:p.Glu374Asp, XP_047295007.1:p.Glu374Asp, XP_047295013.1:p.Glu374Asp, XP_047295011.1:p.Glu374Asp, XP_047295005.1:p.Glu374Asp, XP_047295015.1:p.Glu374Asp, XP_047295016.1:p.Glu374Asp, XP_047295014.1:p.Glu374Asp, XP_047295012.1:p.Glu374Asp

                8.

                rs1470869698 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:53577894 (GRCh38)
                  19:54081148 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53577893:G:A
                  Gene:
                  ZNF331 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000019.10:g.53577894G>A, NC_000019.9:g.54081148G>A, NG_045232.1:g.61972G>A, NM_018555.6:c.1334G>A, NM_018555.5:c.1334G>A, NM_001253800.3:c.1334G>A, NM_001253800.2:c.1334G>A, NM_001253800.1:c.1334G>A, NM_001317120.2:c.1334G>A, NM_001317120.1:c.1334G>A, NM_001317114.2:c.1334G>A, NM_001317114.1:c.1334G>A, NM_001253798.2:c.1334G>A, NM_001253798.1:c.1334G>A, NM_001253799.2:c.1334G>A, NM_001253799.1:c.1334G>A, NM_001317115.2:c.1334G>A, NM_001317115.1:c.1334G>A, NM_001079906.2:c.1334G>A, NM_001079906.1:c.1334G>A, NM_001253801.2:c.1334G>A, NM_001253801.1:c.1334G>A, NM_001317113.2:c.1334G>A, NM_001317113.1:c.1334G>A, NM_001317116.2:c.1334G>A, NM_001317116.1:c.1334G>A, NM_001317118.1:c.1334G>A, NM_001079907.1:c.1334G>A, NM_001317119.1:c.1334G>A, NM_001317117.1:c.1334G>A, NM_001317121.1:c.1334G>A, XM_011527076.4:c.1334G>A, XM_011527076.3:c.1334G>A, XM_011527076.2:c.1334G>A, XM_011527076.1:c.1334G>A, XM_011527078.4:c.1334G>A, XM_011527078.3:c.1334G>A, XM_011527078.2:c.1334G>A, XM_011527078.1:c.1334G>A, XM_017026940.2:c.1334G>A, XM_017026940.1:c.1334G>A, XM_047439054.1:c.1334G>A, XM_047439050.1:c.1334G>A, XM_047439053.1:c.1334G>A, XM_047439051.1:c.1334G>A, XM_047439057.1:c.1334G>A, XM_047439055.1:c.1334G>A, XM_047439049.1:c.1334G>A, XM_047439059.1:c.1334G>A, XM_047439060.1:c.1334G>A, XM_047439058.1:c.1334G>A, XM_047439056.1:c.1334G>A, NP_061025.5:p.Gly445Glu, NP_001240729.1:p.Gly445Glu, NP_001304049.1:p.Gly445Glu, NP_001304043.1:p.Gly445Glu, NP_001240727.1:p.Gly445Glu, NP_001240728.1:p.Gly445Glu, NP_001304044.1:p.Gly445Glu, NP_001073375.1:p.Gly445Glu, NP_001240730.1:p.Gly445Glu, NP_001304042.1:p.Gly445Glu, NP_001304045.1:p.Gly445Glu, NP_001304047.1:p.Gly445Glu, NP_001073376.1:p.Gly445Glu, NP_001304048.1:p.Gly445Glu, NP_001304046.1:p.Gly445Glu, NP_001304050.1:p.Gly445Glu, XP_011525378.1:p.Gly445Glu, XP_011525380.1:p.Gly445Glu, XP_016882429.1:p.Gly445Glu, XP_047295010.1:p.Gly445Glu, XP_047295006.1:p.Gly445Glu, XP_047295009.1:p.Gly445Glu, XP_047295007.1:p.Gly445Glu, XP_047295013.1:p.Gly445Glu, XP_047295011.1:p.Gly445Glu, XP_047295005.1:p.Gly445Glu, XP_047295015.1:p.Gly445Glu, XP_047295016.1:p.Gly445Glu, XP_047295014.1:p.Gly445Glu, XP_047295012.1:p.Gly445Glu

                  9.

                  rs1467335194 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:53577239 (GRCh38)
                    19:54080493 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53577238:G:A
                    Gene:
                    ZNF331 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.53577239G>A, NC_000019.9:g.54080493G>A, NG_045232.1:g.61317G>A, NM_018555.6:c.679G>A, NM_018555.5:c.679G>A, NM_001253800.3:c.679G>A, NM_001253800.2:c.679G>A, NM_001253800.1:c.679G>A, NM_001317120.2:c.679G>A, NM_001317120.1:c.679G>A, NM_001317114.2:c.679G>A, NM_001317114.1:c.679G>A, NM_001253798.2:c.679G>A, NM_001253798.1:c.679G>A, NM_001253799.2:c.679G>A, NM_001253799.1:c.679G>A, NM_001317115.2:c.679G>A, NM_001317115.1:c.679G>A, NM_001079906.2:c.679G>A, NM_001079906.1:c.679G>A, NM_001253801.2:c.679G>A, NM_001253801.1:c.679G>A, NM_001317113.2:c.679G>A, NM_001317113.1:c.679G>A, NM_001317116.2:c.679G>A, NM_001317116.1:c.679G>A, NM_001317118.1:c.679G>A, NM_001079907.1:c.679G>A, NM_001317119.1:c.679G>A, NM_001317117.1:c.679G>A, NM_001317121.1:c.679G>A, XM_011527076.4:c.679G>A, XM_011527076.3:c.679G>A, XM_011527076.2:c.679G>A, XM_011527076.1:c.679G>A, XM_011527078.4:c.679G>A, XM_011527078.3:c.679G>A, XM_011527078.2:c.679G>A, XM_011527078.1:c.679G>A, XM_017026940.2:c.679G>A, XM_017026940.1:c.679G>A, XM_047439054.1:c.679G>A, XM_047439050.1:c.679G>A, XM_047439053.1:c.679G>A, XM_047439051.1:c.679G>A, XM_047439057.1:c.679G>A, XM_047439055.1:c.679G>A, XM_047439049.1:c.679G>A, XM_047439059.1:c.679G>A, XM_047439060.1:c.679G>A, XM_047439058.1:c.679G>A, XM_047439056.1:c.679G>A, NP_061025.5:p.Gly227Ser, NP_001240729.1:p.Gly227Ser, NP_001304049.1:p.Gly227Ser, NP_001304043.1:p.Gly227Ser, NP_001240727.1:p.Gly227Ser, NP_001240728.1:p.Gly227Ser, NP_001304044.1:p.Gly227Ser, NP_001073375.1:p.Gly227Ser, NP_001240730.1:p.Gly227Ser, NP_001304042.1:p.Gly227Ser, NP_001304045.1:p.Gly227Ser, NP_001304047.1:p.Gly227Ser, NP_001073376.1:p.Gly227Ser, NP_001304048.1:p.Gly227Ser, NP_001304046.1:p.Gly227Ser, NP_001304050.1:p.Gly227Ser, XP_011525378.1:p.Gly227Ser, XP_011525380.1:p.Gly227Ser, XP_016882429.1:p.Gly227Ser, XP_047295010.1:p.Gly227Ser, XP_047295006.1:p.Gly227Ser, XP_047295009.1:p.Gly227Ser, XP_047295007.1:p.Gly227Ser, XP_047295013.1:p.Gly227Ser, XP_047295011.1:p.Gly227Ser, XP_047295005.1:p.Gly227Ser, XP_047295015.1:p.Gly227Ser, XP_047295016.1:p.Gly227Ser, XP_047295014.1:p.Gly227Ser, XP_047295012.1:p.Gly227Ser

                    10.

                    rs1457280803 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      19:53577546 (GRCh38)
                      19:54080800 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53577545:G:T
                      Gene:
                      ZNF331 (Varview)
                      Functional Consequence:
                      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.53577546G>T, NC_000019.9:g.54080800G>T, NG_045232.1:g.61624G>T, NM_018555.6:c.986G>T, NM_018555.5:c.986G>T, NM_001253800.3:c.986G>T, NM_001253800.2:c.986G>T, NM_001253800.1:c.986G>T, NM_001317120.2:c.986G>T, NM_001317120.1:c.986G>T, NM_001317114.2:c.986G>T, NM_001317114.1:c.986G>T, NM_001253798.2:c.986G>T, NM_001253798.1:c.986G>T, NM_001253799.2:c.986G>T, NM_001253799.1:c.986G>T, NM_001317115.2:c.986G>T, NM_001317115.1:c.986G>T, NM_001079906.2:c.986G>T, NM_001079906.1:c.986G>T, NM_001253801.2:c.986G>T, NM_001253801.1:c.986G>T, NM_001317113.2:c.986G>T, NM_001317113.1:c.986G>T, NM_001317116.2:c.986G>T, NM_001317116.1:c.986G>T, NM_001317118.1:c.986G>T, NM_001079907.1:c.986G>T, NM_001317119.1:c.986G>T, NM_001317117.1:c.986G>T, NM_001317121.1:c.986G>T, XM_011527076.4:c.986G>T, XM_011527076.3:c.986G>T, XM_011527076.2:c.986G>T, XM_011527076.1:c.986G>T, XM_011527078.4:c.986G>T, XM_011527078.3:c.986G>T, XM_011527078.2:c.986G>T, XM_011527078.1:c.986G>T, XM_017026940.2:c.986G>T, XM_017026940.1:c.986G>T, XM_047439054.1:c.986G>T, XM_047439050.1:c.986G>T, XM_047439053.1:c.986G>T, XM_047439051.1:c.986G>T, XM_047439057.1:c.986G>T, XM_047439055.1:c.986G>T, XM_047439049.1:c.986G>T, XM_047439059.1:c.986G>T, XM_047439060.1:c.986G>T, XM_047439058.1:c.986G>T, XM_047439056.1:c.986G>T, NP_061025.5:p.Cys329Phe, NP_001240729.1:p.Cys329Phe, NP_001304049.1:p.Cys329Phe, NP_001304043.1:p.Cys329Phe, NP_001240727.1:p.Cys329Phe, NP_001240728.1:p.Cys329Phe, NP_001304044.1:p.Cys329Phe, NP_001073375.1:p.Cys329Phe, NP_001240730.1:p.Cys329Phe, NP_001304042.1:p.Cys329Phe, NP_001304045.1:p.Cys329Phe, NP_001304047.1:p.Cys329Phe, NP_001073376.1:p.Cys329Phe, NP_001304048.1:p.Cys329Phe, NP_001304046.1:p.Cys329Phe, NP_001304050.1:p.Cys329Phe, XP_011525378.1:p.Cys329Phe, XP_011525380.1:p.Cys329Phe, XP_016882429.1:p.Cys329Phe, XP_047295010.1:p.Cys329Phe, XP_047295006.1:p.Cys329Phe, XP_047295009.1:p.Cys329Phe, XP_047295007.1:p.Cys329Phe, XP_047295013.1:p.Cys329Phe, XP_047295011.1:p.Cys329Phe, XP_047295005.1:p.Cys329Phe, XP_047295015.1:p.Cys329Phe, XP_047295016.1:p.Cys329Phe, XP_047295014.1:p.Cys329Phe, XP_047295012.1:p.Cys329Phe

                      11.

                      rs1455741143 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:53576944 (GRCh38)
                        19:54080198 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53576943:G:T
                        Gene:
                        ZNF331 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000051/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000019.10:g.53576944G>T, NC_000019.9:g.54080198G>T, NG_045232.1:g.61022G>T, NM_018555.6:c.384G>T, NM_018555.5:c.384G>T, NM_001253800.3:c.384G>T, NM_001253800.2:c.384G>T, NM_001253800.1:c.384G>T, NM_001317120.2:c.384G>T, NM_001317120.1:c.384G>T, NM_001317114.2:c.384G>T, NM_001317114.1:c.384G>T, NM_001253798.2:c.384G>T, NM_001253798.1:c.384G>T, NM_001253799.2:c.384G>T, NM_001253799.1:c.384G>T, NM_001317115.2:c.384G>T, NM_001317115.1:c.384G>T, NM_001079906.2:c.384G>T, NM_001079906.1:c.384G>T, NM_001253801.2:c.384G>T, NM_001253801.1:c.384G>T, NM_001317113.2:c.384G>T, NM_001317113.1:c.384G>T, NM_001317116.2:c.384G>T, NM_001317116.1:c.384G>T, NM_001317118.1:c.384G>T, NM_001079907.1:c.384G>T, NM_001317119.1:c.384G>T, NM_001317117.1:c.384G>T, NM_001317121.1:c.384G>T, XM_011527076.4:c.384G>T, XM_011527076.3:c.384G>T, XM_011527076.2:c.384G>T, XM_011527076.1:c.384G>T, XM_011527078.4:c.384G>T, XM_011527078.3:c.384G>T, XM_011527078.2:c.384G>T, XM_011527078.1:c.384G>T, XM_017026940.2:c.384G>T, XM_017026940.1:c.384G>T, XM_047439054.1:c.384G>T, XM_047439050.1:c.384G>T, XM_047439053.1:c.384G>T, XM_047439051.1:c.384G>T, XM_047439057.1:c.384G>T, XM_047439055.1:c.384G>T, XM_047439049.1:c.384G>T, XM_047439059.1:c.384G>T, XM_047439060.1:c.384G>T, XM_047439058.1:c.384G>T, XM_047439056.1:c.384G>T, NP_061025.5:p.Glu128Asp, NP_001240729.1:p.Glu128Asp, NP_001304049.1:p.Glu128Asp, NP_001304043.1:p.Glu128Asp, NP_001240727.1:p.Glu128Asp, NP_001240728.1:p.Glu128Asp, NP_001304044.1:p.Glu128Asp, NP_001073375.1:p.Glu128Asp, NP_001240730.1:p.Glu128Asp, NP_001304042.1:p.Glu128Asp, NP_001304045.1:p.Glu128Asp, NP_001304047.1:p.Glu128Asp, NP_001073376.1:p.Glu128Asp, NP_001304048.1:p.Glu128Asp, NP_001304046.1:p.Glu128Asp, NP_001304050.1:p.Glu128Asp, XP_011525378.1:p.Glu128Asp, XP_011525380.1:p.Glu128Asp, XP_016882429.1:p.Glu128Asp, XP_047295010.1:p.Glu128Asp, XP_047295006.1:p.Glu128Asp, XP_047295009.1:p.Glu128Asp, XP_047295007.1:p.Glu128Asp, XP_047295013.1:p.Glu128Asp, XP_047295011.1:p.Glu128Asp, XP_047295005.1:p.Glu128Asp, XP_047295015.1:p.Glu128Asp, XP_047295016.1:p.Glu128Asp, XP_047295014.1:p.Glu128Asp, XP_047295012.1:p.Glu128Asp

                        12.

                        rs1455109995 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:53577616 (GRCh38)
                          19:54080870 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53577615:G:A
                          Gene:
                          ZNF331 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000066/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          A=0.000223/1 (Estonian)
                          HGVS:
                          NC_000019.10:g.53577616G>A, NC_000019.9:g.54080870G>A, NG_045232.1:g.61694G>A, NM_018555.6:c.1056G>A, NM_018555.5:c.1056G>A, NM_001253800.3:c.1056G>A, NM_001253800.2:c.1056G>A, NM_001253800.1:c.1056G>A, NM_001317120.2:c.1056G>A, NM_001317120.1:c.1056G>A, NM_001317114.2:c.1056G>A, NM_001317114.1:c.1056G>A, NM_001253798.2:c.1056G>A, NM_001253798.1:c.1056G>A, NM_001253799.2:c.1056G>A, NM_001253799.1:c.1056G>A, NM_001317115.2:c.1056G>A, NM_001317115.1:c.1056G>A, NM_001079906.2:c.1056G>A, NM_001079906.1:c.1056G>A, NM_001253801.2:c.1056G>A, NM_001253801.1:c.1056G>A, NM_001317113.2:c.1056G>A, NM_001317113.1:c.1056G>A, NM_001317116.2:c.1056G>A, NM_001317116.1:c.1056G>A, NM_001317118.1:c.1056G>A, NM_001079907.1:c.1056G>A, NM_001317119.1:c.1056G>A, NM_001317117.1:c.1056G>A, NM_001317121.1:c.1056G>A, XM_011527076.4:c.1056G>A, XM_011527076.3:c.1056G>A, XM_011527076.2:c.1056G>A, XM_011527076.1:c.1056G>A, XM_011527078.4:c.1056G>A, XM_011527078.3:c.1056G>A, XM_011527078.2:c.1056G>A, XM_011527078.1:c.1056G>A, XM_017026940.2:c.1056G>A, XM_017026940.1:c.1056G>A, XM_047439054.1:c.1056G>A, XM_047439050.1:c.1056G>A, XM_047439053.1:c.1056G>A, XM_047439051.1:c.1056G>A, XM_047439057.1:c.1056G>A, XM_047439055.1:c.1056G>A, XM_047439049.1:c.1056G>A, XM_047439059.1:c.1056G>A, XM_047439060.1:c.1056G>A, XM_047439058.1:c.1056G>A, XM_047439056.1:c.1056G>A

                          13.

                          rs1449364242 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TTTTTT [Show Flanks]
                            Chromosome:
                            19:53576697 (GRCh38)
                            19:54079952 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53576697:TTT:TTTTTTTTT
                            Gene:
                            ZNF331 (Varview)
                            Functional Consequence:
                            inframe_insertion,coding_sequence_variant
                            HGVS:
                            NC_000019.10:g.53576700_53576701insTTTTTT, NC_000019.9:g.54079954_54079955insTTTTTT, NG_045232.1:g.60778_60779insTTTTTT, NM_018555.6:c.140_141insTTTTTT, NM_018555.5:c.140_141insTTTTTT, NM_001253800.3:c.140_141insTTTTTT, NM_001253800.2:c.140_141insTTTTTT, NM_001253800.1:c.140_141insTTTTTT, NM_001317120.2:c.140_141insTTTTTT, NM_001317120.1:c.140_141insTTTTTT, NM_001317114.2:c.140_141insTTTTTT, NM_001317114.1:c.140_141insTTTTTT, NM_001253798.2:c.140_141insTTTTTT, NM_001253798.1:c.140_141insTTTTTT, NM_001253799.2:c.140_141insTTTTTT, NM_001253799.1:c.140_141insTTTTTT, NM_001317115.2:c.140_141insTTTTTT, NM_001317115.1:c.140_141insTTTTTT, NM_001079906.2:c.140_141insTTTTTT, NM_001079906.1:c.140_141insTTTTTT, NM_001253801.2:c.140_141insTTTTTT, NM_001253801.1:c.140_141insTTTTTT, NM_001317113.2:c.140_141insTTTTTT, NM_001317113.1:c.140_141insTTTTTT, NM_001317116.2:c.140_141insTTTTTT, NM_001317116.1:c.140_141insTTTTTT, NM_001317118.1:c.140_141insTTTTTT, NM_001079907.1:c.140_141insTTTTTT, NM_001317119.1:c.140_141insTTTTTT, NM_001317117.1:c.140_141insTTTTTT, NM_001317121.1:c.140_141insTTTTTT, XM_011527076.4:c.140_141insTTTTTT, XM_011527076.3:c.140_141insTTTTTT, XM_011527076.2:c.140_141insTTTTTT, XM_011527076.1:c.140_141insTTTTTT, XM_011527078.4:c.140_141insTTTTTT, XM_011527078.3:c.140_141insTTTTTT, XM_011527078.2:c.140_141insTTTTTT, XM_011527078.1:c.140_141insTTTTTT, XM_017026940.2:c.140_141insTTTTTT, XM_017026940.1:c.140_141insTTTTTT, XM_047439054.1:c.140_141insTTTTTT, XM_047439050.1:c.140_141insTTTTTT, XM_047439053.1:c.140_141insTTTTTT, XM_047439051.1:c.140_141insTTTTTT, XM_047439057.1:c.140_141insTTTTTT, XM_047439055.1:c.140_141insTTTTTT, XM_047439049.1:c.140_141insTTTTTT, XM_047439059.1:c.140_141insTTTTTT, XM_047439060.1:c.140_141insTTTTTT, XM_047439058.1:c.140_141insTTTTTT, XM_047439056.1:c.140_141insTTTTTT, NP_061025.5:p.Leu47_Glu48insPhePhe, NP_001240729.1:p.Leu47_Glu48insPhePhe, NP_001304049.1:p.Leu47_Glu48insPhePhe, NP_001304043.1:p.Leu47_Glu48insPhePhe, NP_001240727.1:p.Leu47_Glu48insPhePhe, NP_001240728.1:p.Leu47_Glu48insPhePhe, NP_001304044.1:p.Leu47_Glu48insPhePhe, NP_001073375.1:p.Leu47_Glu48insPhePhe, NP_001240730.1:p.Leu47_Glu48insPhePhe, NP_001304042.1:p.Leu47_Glu48insPhePhe, NP_001304045.1:p.Leu47_Glu48insPhePhe, NP_001304047.1:p.Leu47_Glu48insPhePhe, NP_001073376.1:p.Leu47_Glu48insPhePhe, NP_001304048.1:p.Leu47_Glu48insPhePhe, NP_001304046.1:p.Leu47_Glu48insPhePhe, NP_001304050.1:p.Leu47_Glu48insPhePhe, XP_011525378.1:p.Leu47_Glu48insPhePhe, XP_011525380.1:p.Leu47_Glu48insPhePhe, XP_016882429.1:p.Leu47_Glu48insPhePhe, XP_047295010.1:p.Leu47_Glu48insPhePhe, XP_047295006.1:p.Leu47_Glu48insPhePhe, XP_047295009.1:p.Leu47_Glu48insPhePhe, XP_047295007.1:p.Leu47_Glu48insPhePhe, XP_047295013.1:p.Leu47_Glu48insPhePhe, XP_047295011.1:p.Leu47_Glu48insPhePhe, XP_047295005.1:p.Leu47_Glu48insPhePhe, XP_047295015.1:p.Leu47_Glu48insPhePhe, XP_047295016.1:p.Leu47_Glu48insPhePhe, XP_047295014.1:p.Leu47_Glu48insPhePhe, XP_047295012.1:p.Leu47_Glu48insPhePhe

                            14.

                            rs1449278521 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              19:53577781 (GRCh38)
                              19:54081035 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53577780:G:A,NC_000019.10:53577780:G:T
                              Gene:
                              ZNF331 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.53577781G>A, NC_000019.10:g.53577781G>T, NC_000019.9:g.54081035G>A, NC_000019.9:g.54081035G>T, NG_045232.1:g.61859G>A, NG_045232.1:g.61859G>T, NM_018555.6:c.1221G>A, NM_018555.6:c.1221G>T, NM_018555.5:c.1221G>A, NM_018555.5:c.1221G>T, NM_001253800.3:c.1221G>A, NM_001253800.3:c.1221G>T, NM_001253800.2:c.1221G>A, NM_001253800.2:c.1221G>T, NM_001253800.1:c.1221G>A, NM_001253800.1:c.1221G>T, NM_001317120.2:c.1221G>A, NM_001317120.2:c.1221G>T, NM_001317120.1:c.1221G>A, NM_001317120.1:c.1221G>T, NM_001317114.2:c.1221G>A, NM_001317114.2:c.1221G>T, NM_001317114.1:c.1221G>A, NM_001317114.1:c.1221G>T, NM_001253798.2:c.1221G>A, NM_001253798.2:c.1221G>T, NM_001253798.1:c.1221G>A, NM_001253798.1:c.1221G>T, NM_001253799.2:c.1221G>A, NM_001253799.2:c.1221G>T, NM_001253799.1:c.1221G>A, NM_001253799.1:c.1221G>T, NM_001317115.2:c.1221G>A, NM_001317115.2:c.1221G>T, NM_001317115.1:c.1221G>A, NM_001317115.1:c.1221G>T, NM_001079906.2:c.1221G>A, NM_001079906.2:c.1221G>T, NM_001079906.1:c.1221G>A, NM_001079906.1:c.1221G>T, NM_001253801.2:c.1221G>A, NM_001253801.2:c.1221G>T, NM_001253801.1:c.1221G>A, NM_001253801.1:c.1221G>T, NM_001317113.2:c.1221G>A, NM_001317113.2:c.1221G>T, NM_001317113.1:c.1221G>A, NM_001317113.1:c.1221G>T, NM_001317116.2:c.1221G>A, NM_001317116.2:c.1221G>T, NM_001317116.1:c.1221G>A, NM_001317116.1:c.1221G>T, NM_001317118.1:c.1221G>A, NM_001317118.1:c.1221G>T, NM_001079907.1:c.1221G>A, NM_001079907.1:c.1221G>T, NM_001317119.1:c.1221G>A, NM_001317119.1:c.1221G>T, NM_001317117.1:c.1221G>A, NM_001317117.1:c.1221G>T, NM_001317121.1:c.1221G>A, NM_001317121.1:c.1221G>T, XM_011527076.4:c.1221G>A, XM_011527076.4:c.1221G>T, XM_011527076.3:c.1221G>A, XM_011527076.3:c.1221G>T, XM_011527076.2:c.1221G>A, XM_011527076.2:c.1221G>T, XM_011527076.1:c.1221G>A, XM_011527076.1:c.1221G>T, XM_011527078.4:c.1221G>A, XM_011527078.4:c.1221G>T, XM_011527078.3:c.1221G>A, XM_011527078.3:c.1221G>T, XM_011527078.2:c.1221G>A, XM_011527078.2:c.1221G>T, XM_011527078.1:c.1221G>A, XM_011527078.1:c.1221G>T, XM_017026940.2:c.1221G>A, XM_017026940.2:c.1221G>T, XM_017026940.1:c.1221G>A, XM_017026940.1:c.1221G>T, XM_047439054.1:c.1221G>A, XM_047439054.1:c.1221G>T, XM_047439050.1:c.1221G>A, XM_047439050.1:c.1221G>T, XM_047439053.1:c.1221G>A, XM_047439053.1:c.1221G>T, XM_047439051.1:c.1221G>A, XM_047439051.1:c.1221G>T, XM_047439057.1:c.1221G>A, XM_047439057.1:c.1221G>T, XM_047439055.1:c.1221G>A, XM_047439055.1:c.1221G>T, XM_047439049.1:c.1221G>A, XM_047439049.1:c.1221G>T, XM_047439059.1:c.1221G>A, XM_047439059.1:c.1221G>T, XM_047439060.1:c.1221G>A, XM_047439060.1:c.1221G>T, XM_047439058.1:c.1221G>A, XM_047439058.1:c.1221G>T, XM_047439056.1:c.1221G>A, XM_047439056.1:c.1221G>T

                              15.

                              rs1448883446 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:53577739 (GRCh38)
                                19:54080993 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53577738:T:C
                                Gene:
                                ZNF331 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.53577739T>C, NC_000019.9:g.54080993T>C, NG_045232.1:g.61817T>C, NM_018555.6:c.1179T>C, NM_018555.5:c.1179T>C, NM_001253800.3:c.1179T>C, NM_001253800.2:c.1179T>C, NM_001253800.1:c.1179T>C, NM_001317120.2:c.1179T>C, NM_001317120.1:c.1179T>C, NM_001317114.2:c.1179T>C, NM_001317114.1:c.1179T>C, NM_001253798.2:c.1179T>C, NM_001253798.1:c.1179T>C, NM_001253799.2:c.1179T>C, NM_001253799.1:c.1179T>C, NM_001317115.2:c.1179T>C, NM_001317115.1:c.1179T>C, NM_001079906.2:c.1179T>C, NM_001079906.1:c.1179T>C, NM_001253801.2:c.1179T>C, NM_001253801.1:c.1179T>C, NM_001317113.2:c.1179T>C, NM_001317113.1:c.1179T>C, NM_001317116.2:c.1179T>C, NM_001317116.1:c.1179T>C, NM_001317118.1:c.1179T>C, NM_001079907.1:c.1179T>C, NM_001317119.1:c.1179T>C, NM_001317117.1:c.1179T>C, NM_001317121.1:c.1179T>C, XM_011527076.4:c.1179T>C, XM_011527076.3:c.1179T>C, XM_011527076.2:c.1179T>C, XM_011527076.1:c.1179T>C, XM_011527078.4:c.1179T>C, XM_011527078.3:c.1179T>C, XM_011527078.2:c.1179T>C, XM_011527078.1:c.1179T>C, XM_017026940.2:c.1179T>C, XM_017026940.1:c.1179T>C, XM_047439054.1:c.1179T>C, XM_047439050.1:c.1179T>C, XM_047439053.1:c.1179T>C, XM_047439051.1:c.1179T>C, XM_047439057.1:c.1179T>C, XM_047439055.1:c.1179T>C, XM_047439049.1:c.1179T>C, XM_047439059.1:c.1179T>C, XM_047439060.1:c.1179T>C, XM_047439058.1:c.1179T>C, XM_047439056.1:c.1179T>C

                                16.

                                rs1447360185 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:53576814 (GRCh38)
                                  19:54080068 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53576813:G:A
                                  Gene:
                                  ZNF331 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.53576814G>A, NC_000019.9:g.54080068G>A, NG_045232.1:g.60892G>A, NM_018555.6:c.254G>A, NM_018555.5:c.254G>A, NM_001253800.3:c.254G>A, NM_001253800.2:c.254G>A, NM_001253800.1:c.254G>A, NM_001317120.2:c.254G>A, NM_001317120.1:c.254G>A, NM_001317114.2:c.254G>A, NM_001317114.1:c.254G>A, NM_001253798.2:c.254G>A, NM_001253798.1:c.254G>A, NM_001253799.2:c.254G>A, NM_001253799.1:c.254G>A, NM_001317115.2:c.254G>A, NM_001317115.1:c.254G>A, NM_001079906.2:c.254G>A, NM_001079906.1:c.254G>A, NM_001253801.2:c.254G>A, NM_001253801.1:c.254G>A, NM_001317113.2:c.254G>A, NM_001317113.1:c.254G>A, NM_001317116.2:c.254G>A, NM_001317116.1:c.254G>A, NM_001317118.1:c.254G>A, NM_001079907.1:c.254G>A, NM_001317119.1:c.254G>A, NM_001317117.1:c.254G>A, NM_001317121.1:c.254G>A, XM_011527076.4:c.254G>A, XM_011527076.3:c.254G>A, XM_011527076.2:c.254G>A, XM_011527076.1:c.254G>A, XM_011527078.4:c.254G>A, XM_011527078.3:c.254G>A, XM_011527078.2:c.254G>A, XM_011527078.1:c.254G>A, XM_017026940.2:c.254G>A, XM_017026940.1:c.254G>A, XM_047439054.1:c.254G>A, XM_047439050.1:c.254G>A, XM_047439053.1:c.254G>A, XM_047439051.1:c.254G>A, XM_047439057.1:c.254G>A, XM_047439055.1:c.254G>A, XM_047439049.1:c.254G>A, XM_047439059.1:c.254G>A, XM_047439060.1:c.254G>A, XM_047439058.1:c.254G>A, XM_047439056.1:c.254G>A, NP_061025.5:p.Cys85Tyr, NP_001240729.1:p.Cys85Tyr, NP_001304049.1:p.Cys85Tyr, NP_001304043.1:p.Cys85Tyr, NP_001240727.1:p.Cys85Tyr, NP_001240728.1:p.Cys85Tyr, NP_001304044.1:p.Cys85Tyr, NP_001073375.1:p.Cys85Tyr, NP_001240730.1:p.Cys85Tyr, NP_001304042.1:p.Cys85Tyr, NP_001304045.1:p.Cys85Tyr, NP_001304047.1:p.Cys85Tyr, NP_001073376.1:p.Cys85Tyr, NP_001304048.1:p.Cys85Tyr, NP_001304046.1:p.Cys85Tyr, NP_001304050.1:p.Cys85Tyr, XP_011525378.1:p.Cys85Tyr, XP_011525380.1:p.Cys85Tyr, XP_016882429.1:p.Cys85Tyr, XP_047295010.1:p.Cys85Tyr, XP_047295006.1:p.Cys85Tyr, XP_047295009.1:p.Cys85Tyr, XP_047295007.1:p.Cys85Tyr, XP_047295013.1:p.Cys85Tyr, XP_047295011.1:p.Cys85Tyr, XP_047295005.1:p.Cys85Tyr, XP_047295015.1:p.Cys85Tyr, XP_047295016.1:p.Cys85Tyr, XP_047295014.1:p.Cys85Tyr, XP_047295012.1:p.Cys85Tyr

                                  17.

                                  rs1444904328 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:53577858 (GRCh38)
                                    19:54081112 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53577857:A:G
                                    Gene:
                                    ZNF331 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.53577858A>G, NC_000019.9:g.54081112A>G, NG_045232.1:g.61936A>G, NM_018555.6:c.1298A>G, NM_018555.5:c.1298A>G, NM_001253800.3:c.1298A>G, NM_001253800.2:c.1298A>G, NM_001253800.1:c.1298A>G, NM_001317120.2:c.1298A>G, NM_001317120.1:c.1298A>G, NM_001317114.2:c.1298A>G, NM_001317114.1:c.1298A>G, NM_001253798.2:c.1298A>G, NM_001253798.1:c.1298A>G, NM_001253799.2:c.1298A>G, NM_001253799.1:c.1298A>G, NM_001317115.2:c.1298A>G, NM_001317115.1:c.1298A>G, NM_001079906.2:c.1298A>G, NM_001079906.1:c.1298A>G, NM_001253801.2:c.1298A>G, NM_001253801.1:c.1298A>G, NM_001317113.2:c.1298A>G, NM_001317113.1:c.1298A>G, NM_001317116.2:c.1298A>G, NM_001317116.1:c.1298A>G, NM_001317118.1:c.1298A>G, NM_001079907.1:c.1298A>G, NM_001317119.1:c.1298A>G, NM_001317117.1:c.1298A>G, NM_001317121.1:c.1298A>G, XM_011527076.4:c.1298A>G, XM_011527076.3:c.1298A>G, XM_011527076.2:c.1298A>G, XM_011527076.1:c.1298A>G, XM_011527078.4:c.1298A>G, XM_011527078.3:c.1298A>G, XM_011527078.2:c.1298A>G, XM_011527078.1:c.1298A>G, XM_017026940.2:c.1298A>G, XM_017026940.1:c.1298A>G, XM_047439054.1:c.1298A>G, XM_047439050.1:c.1298A>G, XM_047439053.1:c.1298A>G, XM_047439051.1:c.1298A>G, XM_047439057.1:c.1298A>G, XM_047439055.1:c.1298A>G, XM_047439049.1:c.1298A>G, XM_047439059.1:c.1298A>G, XM_047439060.1:c.1298A>G, XM_047439058.1:c.1298A>G, XM_047439056.1:c.1298A>G, NP_061025.5:p.His433Arg, NP_001240729.1:p.His433Arg, NP_001304049.1:p.His433Arg, NP_001304043.1:p.His433Arg, NP_001240727.1:p.His433Arg, NP_001240728.1:p.His433Arg, NP_001304044.1:p.His433Arg, NP_001073375.1:p.His433Arg, NP_001240730.1:p.His433Arg, NP_001304042.1:p.His433Arg, NP_001304045.1:p.His433Arg, NP_001304047.1:p.His433Arg, NP_001073376.1:p.His433Arg, NP_001304048.1:p.His433Arg, NP_001304046.1:p.His433Arg, NP_001304050.1:p.His433Arg, XP_011525378.1:p.His433Arg, XP_011525380.1:p.His433Arg, XP_016882429.1:p.His433Arg, XP_047295010.1:p.His433Arg, XP_047295006.1:p.His433Arg, XP_047295009.1:p.His433Arg, XP_047295007.1:p.His433Arg, XP_047295013.1:p.His433Arg, XP_047295011.1:p.His433Arg, XP_047295005.1:p.His433Arg, XP_047295015.1:p.His433Arg, XP_047295016.1:p.His433Arg, XP_047295014.1:p.His433Arg, XP_047295012.1:p.His433Arg

                                    18.

                                    rs1444789317 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:53576747 (GRCh38)
                                      19:54080001 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53576746:C:T
                                      Gene:
                                      ZNF331 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.53576747C>T, NC_000019.9:g.54080001C>T, NG_045232.1:g.60825C>T, NM_018555.6:c.187C>T, NM_018555.5:c.187C>T, NM_001253800.3:c.187C>T, NM_001253800.2:c.187C>T, NM_001253800.1:c.187C>T, NM_001317120.2:c.187C>T, NM_001317120.1:c.187C>T, NM_001317114.2:c.187C>T, NM_001317114.1:c.187C>T, NM_001253798.2:c.187C>T, NM_001253798.1:c.187C>T, NM_001253799.2:c.187C>T, NM_001253799.1:c.187C>T, NM_001317115.2:c.187C>T, NM_001317115.1:c.187C>T, NM_001079906.2:c.187C>T, NM_001079906.1:c.187C>T, NM_001253801.2:c.187C>T, NM_001253801.1:c.187C>T, NM_001317113.2:c.187C>T, NM_001317113.1:c.187C>T, NM_001317116.2:c.187C>T, NM_001317116.1:c.187C>T, NM_001317118.1:c.187C>T, NM_001079907.1:c.187C>T, NM_001317119.1:c.187C>T, NM_001317117.1:c.187C>T, NM_001317121.1:c.187C>T, XM_011527076.4:c.187C>T, XM_011527076.3:c.187C>T, XM_011527076.2:c.187C>T, XM_011527076.1:c.187C>T, XM_011527078.4:c.187C>T, XM_011527078.3:c.187C>T, XM_011527078.2:c.187C>T, XM_011527078.1:c.187C>T, XM_017026940.2:c.187C>T, XM_017026940.1:c.187C>T, XM_047439054.1:c.187C>T, XM_047439050.1:c.187C>T, XM_047439053.1:c.187C>T, XM_047439051.1:c.187C>T, XM_047439057.1:c.187C>T, XM_047439055.1:c.187C>T, XM_047439049.1:c.187C>T, XM_047439059.1:c.187C>T, XM_047439060.1:c.187C>T, XM_047439058.1:c.187C>T, XM_047439056.1:c.187C>T, NP_061025.5:p.His63Tyr, NP_001240729.1:p.His63Tyr, NP_001304049.1:p.His63Tyr, NP_001304043.1:p.His63Tyr, NP_001240727.1:p.His63Tyr, NP_001240728.1:p.His63Tyr, NP_001304044.1:p.His63Tyr, NP_001073375.1:p.His63Tyr, NP_001240730.1:p.His63Tyr, NP_001304042.1:p.His63Tyr, NP_001304045.1:p.His63Tyr, NP_001304047.1:p.His63Tyr, NP_001073376.1:p.His63Tyr, NP_001304048.1:p.His63Tyr, NP_001304046.1:p.His63Tyr, NP_001304050.1:p.His63Tyr, XP_011525378.1:p.His63Tyr, XP_011525380.1:p.His63Tyr, XP_016882429.1:p.His63Tyr, XP_047295010.1:p.His63Tyr, XP_047295006.1:p.His63Tyr, XP_047295009.1:p.His63Tyr, XP_047295007.1:p.His63Tyr, XP_047295013.1:p.His63Tyr, XP_047295011.1:p.His63Tyr, XP_047295005.1:p.His63Tyr, XP_047295015.1:p.His63Tyr, XP_047295016.1:p.His63Tyr, XP_047295014.1:p.His63Tyr, XP_047295012.1:p.His63Tyr

                                      19.

                                      rs1443000856 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:53576727 (GRCh38)
                                        19:54079981 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53576726:T:C
                                        Gene:
                                        ZNF331 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.53576727T>C, NC_000019.9:g.54079981T>C, NG_045232.1:g.60805T>C, NM_018555.6:c.167T>C, NM_018555.5:c.167T>C, NM_001253800.3:c.167T>C, NM_001253800.2:c.167T>C, NM_001253800.1:c.167T>C, NM_001317120.2:c.167T>C, NM_001317120.1:c.167T>C, NM_001317114.2:c.167T>C, NM_001317114.1:c.167T>C, NM_001253798.2:c.167T>C, NM_001253798.1:c.167T>C, NM_001253799.2:c.167T>C, NM_001253799.1:c.167T>C, NM_001317115.2:c.167T>C, NM_001317115.1:c.167T>C, NM_001079906.2:c.167T>C, NM_001079906.1:c.167T>C, NM_001253801.2:c.167T>C, NM_001253801.1:c.167T>C, NM_001317113.2:c.167T>C, NM_001317113.1:c.167T>C, NM_001317116.2:c.167T>C, NM_001317116.1:c.167T>C, NM_001317118.1:c.167T>C, NM_001079907.1:c.167T>C, NM_001317119.1:c.167T>C, NM_001317117.1:c.167T>C, NM_001317121.1:c.167T>C, XM_011527076.4:c.167T>C, XM_011527076.3:c.167T>C, XM_011527076.2:c.167T>C, XM_011527076.1:c.167T>C, XM_011527078.4:c.167T>C, XM_011527078.3:c.167T>C, XM_011527078.2:c.167T>C, XM_011527078.1:c.167T>C, XM_017026940.2:c.167T>C, XM_017026940.1:c.167T>C, XM_047439054.1:c.167T>C, XM_047439050.1:c.167T>C, XM_047439053.1:c.167T>C, XM_047439051.1:c.167T>C, XM_047439057.1:c.167T>C, XM_047439055.1:c.167T>C, XM_047439049.1:c.167T>C, XM_047439059.1:c.167T>C, XM_047439060.1:c.167T>C, XM_047439058.1:c.167T>C, XM_047439056.1:c.167T>C, NP_061025.5:p.Leu56Ser, NP_001240729.1:p.Leu56Ser, NP_001304049.1:p.Leu56Ser, NP_001304043.1:p.Leu56Ser, NP_001240727.1:p.Leu56Ser, NP_001240728.1:p.Leu56Ser, NP_001304044.1:p.Leu56Ser, NP_001073375.1:p.Leu56Ser, NP_001240730.1:p.Leu56Ser, NP_001304042.1:p.Leu56Ser, NP_001304045.1:p.Leu56Ser, NP_001304047.1:p.Leu56Ser, NP_001073376.1:p.Leu56Ser, NP_001304048.1:p.Leu56Ser, NP_001304046.1:p.Leu56Ser, NP_001304050.1:p.Leu56Ser, XP_011525378.1:p.Leu56Ser, XP_011525380.1:p.Leu56Ser, XP_016882429.1:p.Leu56Ser, XP_047295010.1:p.Leu56Ser, XP_047295006.1:p.Leu56Ser, XP_047295009.1:p.Leu56Ser, XP_047295007.1:p.Leu56Ser, XP_047295013.1:p.Leu56Ser, XP_047295011.1:p.Leu56Ser, XP_047295005.1:p.Leu56Ser, XP_047295015.1:p.Leu56Ser, XP_047295016.1:p.Leu56Ser, XP_047295014.1:p.Leu56Ser, XP_047295012.1:p.Leu56Ser

                                        20.

                                        rs1442910349 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:53577769 (GRCh38)
                                          19:54081023 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53577768:A:G
                                          Gene:
                                          ZNF331 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.53577769A>G, NC_000019.9:g.54081023A>G, NG_045232.1:g.61847A>G, NM_018555.6:c.1209A>G, NM_018555.5:c.1209A>G, NM_001253800.3:c.1209A>G, NM_001253800.2:c.1209A>G, NM_001253800.1:c.1209A>G, NM_001317120.2:c.1209A>G, NM_001317120.1:c.1209A>G, NM_001317114.2:c.1209A>G, NM_001317114.1:c.1209A>G, NM_001253798.2:c.1209A>G, NM_001253798.1:c.1209A>G, NM_001253799.2:c.1209A>G, NM_001253799.1:c.1209A>G, NM_001317115.2:c.1209A>G, NM_001317115.1:c.1209A>G, NM_001079906.2:c.1209A>G, NM_001079906.1:c.1209A>G, NM_001253801.2:c.1209A>G, NM_001253801.1:c.1209A>G, NM_001317113.2:c.1209A>G, NM_001317113.1:c.1209A>G, NM_001317116.2:c.1209A>G, NM_001317116.1:c.1209A>G, NM_001317118.1:c.1209A>G, NM_001079907.1:c.1209A>G, NM_001317119.1:c.1209A>G, NM_001317117.1:c.1209A>G, NM_001317121.1:c.1209A>G, XM_011527076.4:c.1209A>G, XM_011527076.3:c.1209A>G, XM_011527076.2:c.1209A>G, XM_011527076.1:c.1209A>G, XM_011527078.4:c.1209A>G, XM_011527078.3:c.1209A>G, XM_011527078.2:c.1209A>G, XM_011527078.1:c.1209A>G, XM_017026940.2:c.1209A>G, XM_017026940.1:c.1209A>G, XM_047439054.1:c.1209A>G, XM_047439050.1:c.1209A>G, XM_047439053.1:c.1209A>G, XM_047439051.1:c.1209A>G, XM_047439057.1:c.1209A>G, XM_047439055.1:c.1209A>G, XM_047439049.1:c.1209A>G, XM_047439059.1:c.1209A>G, XM_047439060.1:c.1209A>G, XM_047439058.1:c.1209A>G, XM_047439056.1:c.1209A>G

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