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1.

rs1491301927 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GC>- [Show Flanks]
    Chromosome:
    2:25248155 (GRCh38)
    2:25471024 (GRCh37)
    Canonical SPDI:
    NC_000002.12:25248154:GC:
    Gene:
    DNMT3A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.25248155_25248156del, NC_000002.11:g.25471024_25471025del, NG_029465.2:g.99435_99436del, NM_022552.5:c.736_737del, NM_022552.4:c.736_737del, NM_153759.3:c.169_170del, NR_135490.2:n.967_968del, NR_135490.1:n.1074_1075del, NM_175629.2:c.736_737del, NM_001320893.1:c.280_281del, NM_001375819.1:c.67_68del, XM_005264175.6:c.736_737del, XM_005264175.5:c.736_737del, XM_005264175.4:c.736_737del, XM_005264175.3:c.736_737del, XM_005264175.2:c.736_737del, XM_005264175.1:c.736_737del, XM_011532667.4:c.67_68del, XM_011532667.3:c.67_68del, XM_011532667.2:c.67_68del, XM_011532667.1:c.67_68del, XM_011532662.3:c.589_590del, XM_011532662.2:c.589_590del, XM_011532662.1:c.589_590del, XM_011532666.3:c.208_209del, XM_011532666.2:c.208_209del, XM_011532666.1:c.208_209del, XM_011532664.3:c.736_737del, XM_011532664.2:c.736_737del, XM_011532664.1:c.736_737del, XM_017003526.2:c.736_737del, XM_017003526.1:c.736_737del, XM_017003527.2:c.67_68del, XM_017003527.1:c.67_68del, XM_047443594.1:c.256_257del, XM_047443592.1:c.439_440del, XM_047443598.1:c.67_68del, XM_047443597.1:c.67_68del, XM_047443596.1:c.67_68del, XM_047443593.1:c.736_737del, XM_047443599.1:c.67_68del, NP_072046.2:p.Ala246fs, NP_715640.2:p.Ala57fs, NP_783328.1:p.Ala246fs, NP_001307822.1:p.Ala94fs, NP_001362748.1:p.Ala23fs, XP_005264232.1:p.Ala246fs, XP_011530969.1:p.Ala23fs, XP_011530964.1:p.Ala197fs, XP_011530968.1:p.Ala70fs, XP_011530966.1:p.Ala246fs, XP_016859015.1:p.Ala246fs, XP_016859016.1:p.Ala23fs, XP_047299550.1:p.Ala86fs, XP_047299548.1:p.Ala147fs, XP_047299554.1:p.Ala23fs, XP_047299553.1:p.Ala23fs, XP_047299552.1:p.Ala23fs, XP_047299549.1:p.Ala246fs, XP_047299555.1:p.Ala23fs

    2.

    rs1490632588 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      A>- [Show Flanks]
      Chromosome:
      2:25247155 (GRCh38)
      2:25470024 (GRCh37)
      Canonical SPDI:
      NC_000002.12:25247154:A:
      Gene:
      DNMT3A (Varview)
      Functional Consequence:
      non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.25247155del, NC_000002.11:g.25470024del, NG_029465.2:g.100436del, NM_022552.5:c.1018del, NM_022552.4:c.1018del, NM_153759.3:c.451del, NR_135490.2:n.1249del, NR_135490.1:n.1356del, NM_175629.2:c.1018del, NM_001320893.1:c.562del, NM_001375819.1:c.349del, XM_005264175.6:c.1018del, XM_005264175.5:c.1018del, XM_005264175.4:c.1018del, XM_005264175.3:c.1018del, XM_005264175.2:c.1018del, XM_005264175.1:c.1018del, XM_011532667.4:c.349del, XM_011532667.3:c.349del, XM_011532667.2:c.349del, XM_011532667.1:c.349del, XM_011532662.3:c.871del, XM_011532662.2:c.871del, XM_011532662.1:c.871del, XM_011532666.3:c.490del, XM_011532666.2:c.490del, XM_011532666.1:c.490del, XM_011532664.3:c.1018del, XM_011532664.2:c.1018del, XM_011532664.1:c.1018del, XM_017003526.2:c.1018del, XM_017003526.1:c.1018del, XM_017003527.2:c.349del, XM_017003527.1:c.349del, XM_047443594.1:c.538del, XM_047443592.1:c.721del, XM_047443598.1:c.349del, XM_047443597.1:c.349del, XM_047443596.1:c.349del, XM_047443593.1:c.1018del, XM_047443599.1:c.349del, NP_072046.2:p.Cys340fs, NP_715640.2:p.Cys151fs, NP_783328.1:p.Cys340fs, NP_001307822.1:p.Cys188fs, NP_001362748.1:p.Cys117fs, XP_005264232.1:p.Cys340fs, XP_011530969.1:p.Cys117fs, XP_011530964.1:p.Cys291fs, XP_011530968.1:p.Cys164fs, XP_011530966.1:p.Cys340fs, XP_016859015.1:p.Cys340fs, XP_016859016.1:p.Cys117fs, XP_047299550.1:p.Cys180fs, XP_047299548.1:p.Cys241fs, XP_047299554.1:p.Cys117fs, XP_047299553.1:p.Cys117fs, XP_047299552.1:p.Cys117fs, XP_047299549.1:p.Cys340fs, XP_047299555.1:p.Cys117fs

      3.

      rs1490273086 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:25247089 (GRCh38)
        2:25469958 (GRCh37)
        Canonical SPDI:
        NC_000002.12:25247088:G:A
        Gene:
        DNMT3A (Varview)
        Functional Consequence:
        non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00003/1 (ALFA)
        HGVS:
        NC_000002.12:g.25247089G>A, NC_000002.11:g.25469958G>A, NG_029465.2:g.100502C>T, NM_022552.5:c.1084C>T, NM_022552.4:c.1084C>T, NM_153759.3:c.517C>T, NR_135490.2:n.1315C>T, NR_135490.1:n.1422C>T, NM_175629.2:c.1084C>T, NM_001320893.1:c.628C>T, NM_001375819.1:c.415C>T, XM_005264175.6:c.1084C>T, XM_005264175.5:c.1084C>T, XM_005264175.4:c.1084C>T, XM_005264175.3:c.1084C>T, XM_005264175.2:c.1084C>T, XM_005264175.1:c.1084C>T, XM_011532667.4:c.415C>T, XM_011532667.3:c.415C>T, XM_011532667.2:c.415C>T, XM_011532667.1:c.415C>T, XM_011532662.3:c.937C>T, XM_011532662.2:c.937C>T, XM_011532662.1:c.937C>T, XM_011532666.3:c.556C>T, XM_011532666.2:c.556C>T, XM_011532666.1:c.556C>T, XM_011532664.3:c.1084C>T, XM_011532664.2:c.1084C>T, XM_011532664.1:c.1084C>T, XM_017003526.2:c.1084C>T, XM_017003526.1:c.1084C>T, XM_017003527.2:c.415C>T, XM_017003527.1:c.415C>T, XM_047443594.1:c.604C>T, XM_047443592.1:c.787C>T, XM_047443598.1:c.415C>T, XM_047443597.1:c.415C>T, XM_047443596.1:c.415C>T, XM_047443593.1:c.1084C>T, XM_047443599.1:c.415C>T, NP_072046.2:p.Gln362Ter, NP_715640.2:p.Gln173Ter, NP_783328.1:p.Gln362Ter, NP_001307822.1:p.Gln210Ter, NP_001362748.1:p.Gln139Ter, XP_005264232.1:p.Gln362Ter, XP_011530969.1:p.Gln139Ter, XP_011530964.1:p.Gln313Ter, XP_011530968.1:p.Gln186Ter, XP_011530966.1:p.Gln362Ter, XP_016859015.1:p.Gln362Ter, XP_016859016.1:p.Gln139Ter, XP_047299550.1:p.Gln202Ter, XP_047299548.1:p.Gln263Ter, XP_047299554.1:p.Gln139Ter, XP_047299553.1:p.Gln139Ter, XP_047299552.1:p.Gln139Ter, XP_047299549.1:p.Gln362Ter, XP_047299555.1:p.Gln139Ter

        4.

        rs1489843853 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:25235800 (GRCh38)
          2:25458669 (GRCh37)
          Canonical SPDI:
          NC_000002.12:25235799:G:A
          Gene:
          DNMT3A (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.25235800G>A, NC_000002.11:g.25458669G>A, NG_029465.2:g.111791C>T, NM_022552.5:c.2504C>T, NM_022552.4:c.2504C>T, NM_153759.3:c.1937C>T, NR_135490.2:n.2934C>T, NR_135490.1:n.3041C>T, NM_175629.2:c.2504C>T, NM_001320893.1:c.2048C>T, NM_001375819.1:c.1835C>T, XM_005264175.6:c.2504C>T, XM_005264175.5:c.2504C>T, XM_005264175.4:c.2504C>T, XM_005264175.3:c.2504C>T, XM_005264175.2:c.2504C>T, XM_005264175.1:c.2504C>T, XM_011532667.4:c.1835C>T, XM_011532667.3:c.1835C>T, XM_011532667.2:c.1835C>T, XM_011532667.1:c.1835C>T, XM_011532662.3:c.2357C>T, XM_011532662.2:c.2357C>T, XM_011532662.1:c.2357C>T, XM_011532666.3:c.1976C>T, XM_011532666.2:c.1976C>T, XM_011532666.1:c.1976C>T, XM_017003526.2:c.2504C>T, XM_017003526.1:c.2504C>T, XM_017003527.2:c.1835C>T, XM_017003527.1:c.1835C>T, XM_047443594.1:c.2024C>T, XM_047443592.1:c.2207C>T, XM_047443598.1:c.1835C>T, XM_047443597.1:c.1835C>T, XM_047443596.1:c.1835C>T, XM_047443593.1:c.*13C>T, NP_072046.2:p.Thr835Met, NP_715640.2:p.Thr646Met, NP_783328.1:p.Thr835Met, NP_001307822.1:p.Thr683Met, NP_001362748.1:p.Thr612Met, XP_005264232.1:p.Thr835Met, XP_011530969.1:p.Thr612Met, XP_011530964.1:p.Thr786Met, XP_011530968.1:p.Thr659Met, XP_016859015.1:p.Thr835Met, XP_016859016.1:p.Thr612Met, XP_047299550.1:p.Thr675Met, XP_047299548.1:p.Thr736Met, XP_047299554.1:p.Thr612Met, XP_047299553.1:p.Thr612Met, XP_047299552.1:p.Thr612Met

          5.

          rs1489763122 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            2:25245304 (GRCh38)
            2:25468174 (GRCh37)
            Canonical SPDI:
            NC_000002.12:25245304:TT:TTT
            Gene:
            DNMT3A (Varview)
            Functional Consequence:
            non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            TTT=0./0 (ALFA)
            HGVS:
            NC_000002.12:g.25245306dup, NC_000002.11:g.25468175dup, NG_029465.2:g.102286dup, NM_022552.5:c.1502dup, NM_022552.4:c.1502dup, NM_153759.3:c.935dup, NR_135490.2:n.1733dup, NR_135490.1:n.1840dup, NM_175629.2:c.1502dup, NM_001320893.1:c.1046dup, NM_001375819.1:c.833dup, XM_005264175.6:c.1502dup, XM_005264175.5:c.1502dup, XM_005264175.4:c.1502dup, XM_005264175.3:c.1502dup, XM_005264175.2:c.1502dup, XM_005264175.1:c.1502dup, XM_011532667.4:c.833dup, XM_011532667.3:c.833dup, XM_011532667.2:c.833dup, XM_011532667.1:c.833dup, XM_011532662.3:c.1355dup, XM_011532662.2:c.1355dup, XM_011532662.1:c.1355dup, XM_011532666.3:c.974dup, XM_011532666.2:c.974dup, XM_011532666.1:c.974dup, XM_011532664.3:c.1502dup, XM_011532664.2:c.1502dup, XM_011532664.1:c.1502dup, XM_017003526.2:c.1502dup, XM_017003526.1:c.1502dup, XM_017003527.2:c.833dup, XM_017003527.1:c.833dup, XM_047443594.1:c.1022dup, XM_047443592.1:c.1205dup, XM_047443598.1:c.833dup, XM_047443597.1:c.833dup, XM_047443596.1:c.833dup, XM_047443593.1:c.1502dup, XM_047443599.1:c.833dup, NP_072046.2:p.Asn501fs, NP_715640.2:p.Asn312fs, NP_783328.1:p.Asn501fs, NP_001307822.1:p.Asn349fs, NP_001362748.1:p.Asn278fs, XP_005264232.1:p.Asn501fs, XP_011530969.1:p.Asn278fs, XP_011530964.1:p.Asn452fs, XP_011530968.1:p.Asn325fs, XP_011530966.1:p.Asn501fs, XP_016859015.1:p.Asn501fs, XP_016859016.1:p.Asn278fs, XP_047299550.1:p.Asn341fs, XP_047299548.1:p.Asn402fs, XP_047299554.1:p.Asn278fs, XP_047299553.1:p.Asn278fs, XP_047299552.1:p.Asn278fs, XP_047299549.1:p.Asn501fs, XP_047299555.1:p.Asn278fs

            6.

            rs1489496022 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GATA [Show Flanks]
              Chromosome:
              2:25233753 (GRCh38)
              2:25456623 (GRCh37)
              Canonical SPDI:
              NC_000002.12:25233753:AGATA:AGATAGATA
              Gene:
              DNMT3A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGATAGATA=0./0 (ALFA)
              AGAT=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.25233755_25233758dup, NC_000002.11:g.25456624_25456627dup, NG_029465.2:g.113834_113837dup, NM_022552.5:c.*522_*525dup, NM_022552.4:c.*522_*525dup, NM_153759.3:c.*522_*525dup, NR_135490.2:n.3691_3694dup, NR_135490.1:n.3798_3801dup, NM_175629.2:c.*522_*525dup, NM_001320893.1:c.*522_*525dup, NM_001375819.1:c.*522_*525dup, XM_005264175.6:c.*522_*525dup, XM_005264175.5:c.*522_*525dup, XM_005264175.4:c.*522_*525dup, XM_005264175.3:c.*522_*525dup, XM_005264175.2:c.*522_*525dup, XM_005264175.1:c.*522_*525dup, XM_011532667.4:c.*522_*525dup, XM_011532667.3:c.*522_*525dup, XM_011532667.2:c.*522_*525dup, XM_011532667.1:c.*522_*525dup, XM_011532662.3:c.*522_*525dup, XM_011532662.2:c.*522_*525dup, XM_011532662.1:c.*522_*525dup, XM_011532666.3:c.*522_*525dup, XM_011532666.2:c.*522_*525dup, XM_011532666.1:c.*522_*525dup, XM_017003526.2:c.*522_*525dup, XM_017003526.1:c.*522_*525dup, XM_017003527.2:c.*522_*525dup, XM_017003527.1:c.*522_*525dup, XM_047443594.1:c.*522_*525dup, XM_047443592.1:c.*522_*525dup, XM_047443598.1:c.*522_*525dup, XM_047443597.1:c.*522_*525dup, XM_047443596.1:c.*522_*525dup

              7.

              rs1489402827 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                2:25342456 (GRCh38)
                2:25565325 (GRCh37)
                Canonical SPDI:
                NC_000002.12:25342455:C:G,NC_000002.12:25342455:C:T
                Gene:
                DNMT3A (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                G=0.000015/4 (TOPMED)
                HGVS:

                8.

                rs1488912049 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ACTTAAA>- [Show Flanks]
                  Chromosome:
                  2:25314080 (GRCh38)
                  2:25536949 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:25314074:TTAAAACTTAAA:TTAAA
                  Gene:
                  DNMT3A (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTAAA=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1488855735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:25233671 (GRCh38)
                    2:25456540 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:25233670:A:G
                    Gene:
                    DNMT3A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.0055/10 (Korea1K)
                    HGVS:
                    NC_000002.12:g.25233671A>G, NC_000002.11:g.25456540A>G, NG_029465.2:g.113920T>C, NM_022552.5:c.*608T>C, NM_022552.4:c.*608T>C, NM_153759.3:c.*608T>C, NR_135490.2:n.3777T>C, NR_135490.1:n.3884T>C, NM_175629.2:c.*608T>C, NM_001320893.1:c.*608T>C, NM_001375819.1:c.*608T>C, XM_005264175.6:c.*608T>C, XM_005264175.5:c.*608T>C, XM_005264175.4:c.*608T>C, XM_005264175.3:c.*608T>C, XM_005264175.2:c.*608T>C, XM_005264175.1:c.*608T>C, XM_011532667.4:c.*608T>C, XM_011532667.3:c.*608T>C, XM_011532667.2:c.*608T>C, XM_011532667.1:c.*608T>C, XM_011532662.3:c.*608T>C, XM_011532662.2:c.*608T>C, XM_011532662.1:c.*608T>C, XM_011532666.3:c.*608T>C, XM_011532666.2:c.*608T>C, XM_011532666.1:c.*608T>C, XM_017003526.2:c.*608T>C, XM_017003526.1:c.*608T>C, XM_017003527.2:c.*608T>C, XM_017003527.1:c.*608T>C, XM_047443594.1:c.*608T>C, XM_047443592.1:c.*608T>C, XM_047443598.1:c.*608T>C, XM_047443597.1:c.*608T>C, XM_047443596.1:c.*608T>C

                    10.

                    rs1488487863 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      2:25233780 (GRCh38)
                      2:25456649 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:25233779:A:C
                      Gene:
                      DNMT3A (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00051/6 (ALFA)
                      C=0.00096/38 (GnomAD)
                      C=0.00103/14 (TOMMO)
                      C=0.00125/2 (Korea1K)
                      C=0.00171/5 (KOREAN)
                      HGVS:
                      NC_000002.12:g.25233780A>C, NC_000002.11:g.25456649A>C, NG_029465.2:g.113811T>G, NM_022552.5:c.*499T>G, NM_022552.4:c.*499T>G, NM_153759.3:c.*499T>G, NR_135490.2:n.3668T>G, NR_135490.1:n.3775T>G, NM_175629.2:c.*499T>G, NM_001320893.1:c.*499T>G, NM_001375819.1:c.*499T>G, XM_005264175.6:c.*499T>G, XM_005264175.5:c.*499T>G, XM_005264175.4:c.*499T>G, XM_005264175.3:c.*499T>G, XM_005264175.2:c.*499T>G, XM_005264175.1:c.*499T>G, XM_011532667.4:c.*499T>G, XM_011532667.3:c.*499T>G, XM_011532667.2:c.*499T>G, XM_011532667.1:c.*499T>G, XM_011532662.3:c.*499T>G, XM_011532662.2:c.*499T>G, XM_011532662.1:c.*499T>G, XM_011532666.3:c.*499T>G, XM_011532666.2:c.*499T>G, XM_011532666.1:c.*499T>G, XM_017003526.2:c.*499T>G, XM_017003526.1:c.*499T>G, XM_017003527.2:c.*499T>G, XM_017003527.1:c.*499T>G, XM_047443594.1:c.*499T>G, XM_047443592.1:c.*499T>G, XM_047443598.1:c.*499T>G, XM_047443597.1:c.*499T>G, XM_047443596.1:c.*499T>G

                      11.

                      rs1486158831 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:25234020 (GRCh38)
                        2:25456889 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:25234019:G:C
                        Gene:
                        DNMT3A (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000002.12:g.25234020G>C, NC_000002.11:g.25456889G>C, NG_029465.2:g.113571C>G, NM_022552.5:c.*259C>G, NM_022552.4:c.*259C>G, NM_153759.3:c.*259C>G, NR_135490.2:n.3428C>G, NR_135490.1:n.3535C>G, NM_175629.2:c.*259C>G, NM_001320893.1:c.*259C>G, NM_001375819.1:c.*259C>G, XM_005264175.6:c.*259C>G, XM_005264175.5:c.*259C>G, XM_005264175.4:c.*259C>G, XM_005264175.3:c.*259C>G, XM_005264175.2:c.*259C>G, XM_005264175.1:c.*259C>G, XM_011532667.4:c.*259C>G, XM_011532667.3:c.*259C>G, XM_011532667.2:c.*259C>G, XM_011532667.1:c.*259C>G, XM_011532662.3:c.*259C>G, XM_011532662.2:c.*259C>G, XM_011532662.1:c.*259C>G, XM_011532666.3:c.*259C>G, XM_011532666.2:c.*259C>G, XM_011532666.1:c.*259C>G, XM_017003526.2:c.*259C>G, XM_017003526.1:c.*259C>G, XM_017003527.2:c.*259C>G, XM_017003527.1:c.*259C>G, XM_047443594.1:c.*259C>G, XM_047443592.1:c.*259C>G, XM_047443598.1:c.*259C>G, XM_047443597.1:c.*259C>G, XM_047443596.1:c.*259C>G

                        12.

                        rs1484795800 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C,T [Show Flanks]
                          Chromosome:
                          2:25241582 (GRCh38)
                          2:25464451 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:25241581:G:A,NC_000002.12:25241581:G:C,NC_000002.12:25241581:G:T
                          Gene:
                          DNMT3A (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          T=0.00006/1 (TOMMO)
                          HGVS:
                          NC_000002.12:g.25241582G>A, NC_000002.12:g.25241582G>C, NC_000002.12:g.25241582G>T, NC_000002.11:g.25464451G>A, NC_000002.11:g.25464451G>C, NC_000002.11:g.25464451G>T, NG_029465.2:g.106009C>T, NG_029465.2:g.106009C>G, NG_029465.2:g.106009C>A, NM_022552.5:c.2062C>T, NM_022552.5:c.2062C>G, NM_022552.5:c.2062C>A, NM_022552.4:c.2062C>T, NM_022552.4:c.2062C>G, NM_022552.4:c.2062C>A, NM_153759.3:c.1495C>T, NM_153759.3:c.1495C>G, NM_153759.3:c.1495C>A, NR_135490.2:n.2293C>T, NR_135490.2:n.2293C>G, NR_135490.2:n.2293C>A, NR_135490.1:n.2400C>T, NR_135490.1:n.2400C>G, NR_135490.1:n.2400C>A, NM_175629.2:c.2062C>T, NM_175629.2:c.2062C>G, NM_175629.2:c.2062C>A, NM_001320893.1:c.1606C>T, NM_001320893.1:c.1606C>G, NM_001320893.1:c.1606C>A, NM_001375819.1:c.1393C>T, NM_001375819.1:c.1393C>G, NM_001375819.1:c.1393C>A, XM_005264175.6:c.2062C>T, XM_005264175.6:c.2062C>G, XM_005264175.6:c.2062C>A, XM_005264175.5:c.2062C>T, XM_005264175.5:c.2062C>G, XM_005264175.5:c.2062C>A, XM_005264175.4:c.2062C>T, XM_005264175.4:c.2062C>G, XM_005264175.4:c.2062C>A, XM_005264175.3:c.2062C>T, XM_005264175.3:c.2062C>G, XM_005264175.3:c.2062C>A, XM_005264175.2:c.2062C>T, XM_005264175.2:c.2062C>G, XM_005264175.2:c.2062C>A, XM_005264175.1:c.2062C>T, XM_005264175.1:c.2062C>G, XM_005264175.1:c.2062C>A, XM_011532667.4:c.1393C>T, XM_011532667.4:c.1393C>G, XM_011532667.4:c.1393C>A, XM_011532667.3:c.1393C>T, XM_011532667.3:c.1393C>G, XM_011532667.3:c.1393C>A, XM_011532667.2:c.1393C>T, XM_011532667.2:c.1393C>G, XM_011532667.2:c.1393C>A, XM_011532667.1:c.1393C>T, XM_011532667.1:c.1393C>G, XM_011532667.1:c.1393C>A, XM_011532662.3:c.1915C>T, XM_011532662.3:c.1915C>G, XM_011532662.3:c.1915C>A, XM_011532662.2:c.1915C>T, XM_011532662.2:c.1915C>G, XM_011532662.2:c.1915C>A, XM_011532662.1:c.1915C>T, XM_011532662.1:c.1915C>G, XM_011532662.1:c.1915C>A, XM_011532666.3:c.1534C>T, XM_011532666.3:c.1534C>G, XM_011532666.3:c.1534C>A, XM_011532666.2:c.1534C>T, XM_011532666.2:c.1534C>G, XM_011532666.2:c.1534C>A, XM_011532666.1:c.1534C>T, XM_011532666.1:c.1534C>G, XM_011532666.1:c.1534C>A, XM_011532664.3:c.2062C>T, XM_011532664.3:c.2062C>G, XM_011532664.3:c.2062C>A, XM_011532664.2:c.2062C>T, XM_011532664.2:c.2062C>G, XM_011532664.2:c.2062C>A, XM_011532664.1:c.2062C>T, XM_011532664.1:c.2062C>G, XM_011532664.1:c.2062C>A, XM_017003526.2:c.2062C>T, XM_017003526.2:c.2062C>G, XM_017003526.2:c.2062C>A, XM_017003526.1:c.2062C>T, XM_017003526.1:c.2062C>G, XM_017003526.1:c.2062C>A, XM_017003527.2:c.1393C>T, XM_017003527.2:c.1393C>G, XM_017003527.2:c.1393C>A, XM_017003527.1:c.1393C>T, XM_017003527.1:c.1393C>G, XM_017003527.1:c.1393C>A, XM_047443594.1:c.1582C>T, XM_047443594.1:c.1582C>G, XM_047443594.1:c.1582C>A, XM_047443592.1:c.1765C>T, XM_047443592.1:c.1765C>G, XM_047443592.1:c.1765C>A, XM_047443598.1:c.1393C>T, XM_047443598.1:c.1393C>G, XM_047443598.1:c.1393C>A, XM_047443597.1:c.1393C>T, XM_047443597.1:c.1393C>G, XM_047443597.1:c.1393C>A, XM_047443596.1:c.1393C>T, XM_047443596.1:c.1393C>G, XM_047443596.1:c.1393C>A, XM_047443593.1:c.2062C>T, XM_047443593.1:c.2062C>G, XM_047443593.1:c.2062C>A, XM_047443599.1:c.1393C>T, XM_047443599.1:c.1393C>G, XM_047443599.1:c.1393C>A, NP_072046.2:p.Arg688Cys, NP_072046.2:p.Arg688Gly, NP_072046.2:p.Arg688Ser, NP_715640.2:p.Arg499Cys, NP_715640.2:p.Arg499Gly, NP_715640.2:p.Arg499Ser, NP_783328.1:p.Arg688Cys, NP_783328.1:p.Arg688Gly, NP_783328.1:p.Arg688Ser, NP_001307822.1:p.Arg536Cys, NP_001307822.1:p.Arg536Gly, NP_001307822.1:p.Arg536Ser, NP_001362748.1:p.Arg465Cys, NP_001362748.1:p.Arg465Gly, NP_001362748.1:p.Arg465Ser, XP_005264232.1:p.Arg688Cys, XP_005264232.1:p.Arg688Gly, XP_005264232.1:p.Arg688Ser, XP_011530969.1:p.Arg465Cys, XP_011530969.1:p.Arg465Gly, XP_011530969.1:p.Arg465Ser, XP_011530964.1:p.Arg639Cys, XP_011530964.1:p.Arg639Gly, XP_011530964.1:p.Arg639Ser, XP_011530968.1:p.Arg512Cys, XP_011530968.1:p.Arg512Gly, XP_011530968.1:p.Arg512Ser, XP_011530966.1:p.Arg688Cys, XP_011530966.1:p.Arg688Gly, XP_011530966.1:p.Arg688Ser, XP_016859015.1:p.Arg688Cys, XP_016859015.1:p.Arg688Gly, XP_016859015.1:p.Arg688Ser, XP_016859016.1:p.Arg465Cys, XP_016859016.1:p.Arg465Gly, XP_016859016.1:p.Arg465Ser, XP_047299550.1:p.Arg528Cys, XP_047299550.1:p.Arg528Gly, XP_047299550.1:p.Arg528Ser, XP_047299548.1:p.Arg589Cys, XP_047299548.1:p.Arg589Gly, XP_047299548.1:p.Arg589Ser, XP_047299554.1:p.Arg465Cys, XP_047299554.1:p.Arg465Gly, XP_047299554.1:p.Arg465Ser, XP_047299553.1:p.Arg465Cys, XP_047299553.1:p.Arg465Gly, XP_047299553.1:p.Arg465Ser, XP_047299552.1:p.Arg465Cys, XP_047299552.1:p.Arg465Gly, XP_047299552.1:p.Arg465Ser, XP_047299549.1:p.Arg688Cys, XP_047299549.1:p.Arg688Gly, XP_047299549.1:p.Arg688Ser, XP_047299555.1:p.Arg465Cys, XP_047299555.1:p.Arg465Gly, XP_047299555.1:p.Arg465Ser

                          13.

                          rs1484212006 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:25233296 (GRCh38)
                            2:25456165 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:25233295:G:A
                            Gene:
                            DNMT3A (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.25233296G>A, NC_000002.11:g.25456165G>A, NG_029465.2:g.114295C>T, NM_022552.5:c.*983C>T, NM_022552.4:c.*983C>T, NM_153759.3:c.*983C>T, NR_135490.2:n.4152C>T, NR_135490.1:n.4259C>T, NM_175629.2:c.*983C>T, NM_001320893.1:c.*983C>T, NM_001375819.1:c.*983C>T, XM_005264175.6:c.*983C>T, XM_005264175.5:c.*983C>T, XM_005264175.4:c.*983C>T, XM_005264175.3:c.*983C>T, XM_005264175.2:c.*983C>T, XM_005264175.1:c.*983C>T, XM_011532667.4:c.*983C>T, XM_011532667.3:c.*983C>T, XM_011532667.2:c.*983C>T, XM_011532667.1:c.*983C>T, XM_011532662.3:c.*983C>T, XM_011532662.2:c.*983C>T, XM_011532662.1:c.*983C>T, XM_011532666.3:c.*983C>T, XM_011532666.2:c.*983C>T, XM_011532666.1:c.*983C>T, XM_017003526.2:c.*983C>T, XM_017003526.1:c.*983C>T, XM_017003527.2:c.*983C>T, XM_017003527.1:c.*983C>T, XM_047443594.1:c.*983C>T, XM_047443592.1:c.*983C>T, XM_047443598.1:c.*983C>T, XM_047443597.1:c.*983C>T, XM_047443596.1:c.*983C>T

                            14.

                            rs1484141511 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:25244272 (GRCh38)
                              2:25467141 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:25244271:T:C
                              Gene:
                              DNMT3A (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.25244272T>C, NC_000002.11:g.25467141T>C, NG_029465.2:g.103319A>G, NM_022552.5:c.1734A>G, NM_022552.4:c.1734A>G, NM_153759.3:c.1167A>G, NR_135490.2:n.1965A>G, NR_135490.1:n.2072A>G, NM_175629.2:c.1734A>G, NM_001320893.1:c.1278A>G, NM_001375819.1:c.1065A>G, XM_005264175.6:c.1734A>G, XM_005264175.5:c.1734A>G, XM_005264175.4:c.1734A>G, XM_005264175.3:c.1734A>G, XM_005264175.2:c.1734A>G, XM_005264175.1:c.1734A>G, XM_011532667.4:c.1065A>G, XM_011532667.3:c.1065A>G, XM_011532667.2:c.1065A>G, XM_011532667.1:c.1065A>G, XM_011532662.3:c.1587A>G, XM_011532662.2:c.1587A>G, XM_011532662.1:c.1587A>G, XM_011532666.3:c.1206A>G, XM_011532666.2:c.1206A>G, XM_011532666.1:c.1206A>G, XM_011532664.3:c.1734A>G, XM_011532664.2:c.1734A>G, XM_011532664.1:c.1734A>G, XM_017003526.2:c.1734A>G, XM_017003526.1:c.1734A>G, XM_017003527.2:c.1065A>G, XM_017003527.1:c.1065A>G, XM_047443594.1:c.1254A>G, XM_047443592.1:c.1437A>G, XM_047443598.1:c.1065A>G, XM_047443597.1:c.1065A>G, XM_047443596.1:c.1065A>G, XM_047443593.1:c.1734A>G, XM_047443599.1:c.1065A>G

                              15.

                              rs1483812737 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                2:25232971 (GRCh38)
                                2:25455840 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:25232970:A:C
                                Gene:
                                DNMT3A (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.0002/1 (ALFA)
                                C=0.0002/1 (Estonian)
                                HGVS:

                                16.

                                rs1483397095 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:25248099 (GRCh38)
                                  2:25470968 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:25248098:C:T
                                  Gene:
                                  DNMT3A (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000054/1 (ALFA)
                                  T=0.000021/3 (GnomAD)
                                  T=0.00003/8 (TOPMED)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000002.12:g.25248099C>T, NC_000002.11:g.25470968C>T, NG_029465.2:g.99492G>A, NM_022552.5:c.793G>A, NM_022552.4:c.793G>A, NM_153759.3:c.226G>A, NR_135490.2:n.1024G>A, NR_135490.1:n.1131G>A, NM_175629.2:c.793G>A, NM_001320893.1:c.337G>A, NM_001375819.1:c.124G>A, XM_005264175.6:c.793G>A, XM_005264175.5:c.793G>A, XM_005264175.4:c.793G>A, XM_005264175.3:c.793G>A, XM_005264175.2:c.793G>A, XM_005264175.1:c.793G>A, XM_011532667.4:c.124G>A, XM_011532667.3:c.124G>A, XM_011532667.2:c.124G>A, XM_011532667.1:c.124G>A, XM_011532662.3:c.646G>A, XM_011532662.2:c.646G>A, XM_011532662.1:c.646G>A, XM_011532666.3:c.265G>A, XM_011532666.2:c.265G>A, XM_011532666.1:c.265G>A, XM_011532664.3:c.793G>A, XM_011532664.2:c.793G>A, XM_011532664.1:c.793G>A, XM_017003526.2:c.793G>A, XM_017003526.1:c.793G>A, XM_017003527.2:c.124G>A, XM_017003527.1:c.124G>A, XM_047443594.1:c.313G>A, XM_047443592.1:c.496G>A, XM_047443598.1:c.124G>A, XM_047443597.1:c.124G>A, XM_047443596.1:c.124G>A, XM_047443593.1:c.793G>A, XM_047443599.1:c.124G>A, NP_072046.2:p.Val265Met, NP_715640.2:p.Val76Met, NP_783328.1:p.Val265Met, NP_001307822.1:p.Val113Met, NP_001362748.1:p.Val42Met, XP_005264232.1:p.Val265Met, XP_011530969.1:p.Val42Met, XP_011530964.1:p.Val216Met, XP_011530968.1:p.Val89Met, XP_011530966.1:p.Val265Met, XP_016859015.1:p.Val265Met, XP_016859016.1:p.Val42Met, XP_047299550.1:p.Val105Met, XP_047299548.1:p.Val166Met, XP_047299554.1:p.Val42Met, XP_047299553.1:p.Val42Met, XP_047299552.1:p.Val42Met, XP_047299549.1:p.Val265Met, XP_047299555.1:p.Val42Met

                                  17.

                                  rs1483256801 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:25244222 (GRCh38)
                                    2:25467091 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:25244221:A:G
                                    Gene:
                                    DNMT3A (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.25244222A>G, NC_000002.11:g.25467091A>G, NG_029465.2:g.103369T>C, NM_022552.5:c.1784T>C, NM_022552.4:c.1784T>C, NM_153759.3:c.1217T>C, NR_135490.2:n.2015T>C, NR_135490.1:n.2122T>C, NM_175629.2:c.1784T>C, NM_001320893.1:c.1328T>C, NM_001375819.1:c.1115T>C, XM_005264175.6:c.1784T>C, XM_005264175.5:c.1784T>C, XM_005264175.4:c.1784T>C, XM_005264175.3:c.1784T>C, XM_005264175.2:c.1784T>C, XM_005264175.1:c.1784T>C, XM_011532667.4:c.1115T>C, XM_011532667.3:c.1115T>C, XM_011532667.2:c.1115T>C, XM_011532667.1:c.1115T>C, XM_011532662.3:c.1637T>C, XM_011532662.2:c.1637T>C, XM_011532662.1:c.1637T>C, XM_011532666.3:c.1256T>C, XM_011532666.2:c.1256T>C, XM_011532666.1:c.1256T>C, XM_011532664.3:c.1784T>C, XM_011532664.2:c.1784T>C, XM_011532664.1:c.1784T>C, XM_017003526.2:c.1784T>C, XM_017003526.1:c.1784T>C, XM_017003527.2:c.1115T>C, XM_017003527.1:c.1115T>C, XM_047443594.1:c.1304T>C, XM_047443592.1:c.1487T>C, XM_047443598.1:c.1115T>C, XM_047443597.1:c.1115T>C, XM_047443596.1:c.1115T>C, XM_047443593.1:c.1784T>C, XM_047443599.1:c.1115T>C, NP_072046.2:p.Leu595Pro, NP_715640.2:p.Leu406Pro, NP_783328.1:p.Leu595Pro, NP_001307822.1:p.Leu443Pro, NP_001362748.1:p.Leu372Pro, XP_005264232.1:p.Leu595Pro, XP_011530969.1:p.Leu372Pro, XP_011530964.1:p.Leu546Pro, XP_011530968.1:p.Leu419Pro, XP_011530966.1:p.Leu595Pro, XP_016859015.1:p.Leu595Pro, XP_016859016.1:p.Leu372Pro, XP_047299550.1:p.Leu435Pro, XP_047299548.1:p.Leu496Pro, XP_047299554.1:p.Leu372Pro, XP_047299553.1:p.Leu372Pro, XP_047299552.1:p.Leu372Pro, XP_047299549.1:p.Leu595Pro, XP_047299555.1:p.Leu372Pro

                                    18.

                                    rs1482811916 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:25282530 (GRCh38)
                                      2:25505399 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:25282529:C:T
                                      Gene:
                                      DNMT3A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000002.12:g.25282530C>T, NC_000002.11:g.25505399C>T, NG_029465.2:g.65061G>A, NM_022552.5:c.359G>A, NM_022552.4:c.359G>A, NR_135490.2:n.590G>A, NR_135490.1:n.697G>A, NM_175629.2:c.359G>A, NM_001320892.2:c.359G>A, NM_001320892.1:c.359G>A, NM_175630.1:c.359G>A, XM_005264175.6:c.359G>A, XM_005264175.5:c.359G>A, XM_005264175.4:c.359G>A, XM_005264175.3:c.359G>A, XM_005264175.2:c.359G>A, XM_005264175.1:c.359G>A, XM_011532662.3:c.212G>A, XM_011532662.2:c.212G>A, XM_011532662.1:c.212G>A, XM_011532664.3:c.359G>A, XM_011532664.2:c.359G>A, XM_011532664.1:c.359G>A, XM_017003526.2:c.359G>A, XM_017003526.1:c.359G>A, XM_047443592.1:c.-42G>A, XM_047443593.1:c.359G>A, NP_072046.2:p.Gly120Asp, NP_783328.1:p.Gly120Asp, NP_001307821.1:p.Gly120Asp, NP_783329.1:p.Gly120Asp, XP_005264232.1:p.Gly120Asp, XP_011530964.1:p.Gly71Asp, XP_011530966.1:p.Gly120Asp, XP_016859015.1:p.Gly120Asp, XP_047299549.1:p.Gly120Asp

                                      19.

                                      rs1482507952 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        2:25342452 (GRCh38)
                                        2:25565321 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:25342451:T:G
                                        Gene:
                                        DNMT3A (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000156/1 (1000Genomes)
                                        HGVS:

                                        20.

                                        rs1481248882 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          2:25246259 (GRCh38)
                                          2:25469128 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:25246258:C:A
                                          Gene:
                                          DNMT3A (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.25246259C>A, NC_000002.11:g.25469128C>A, NG_029465.2:g.101332G>T, NM_022552.5:c.1330G>T, NM_022552.4:c.1330G>T, NM_153759.3:c.763G>T, NR_135490.2:n.1561G>T, NR_135490.1:n.1668G>T, NM_175629.2:c.1330G>T, NM_001320893.1:c.874G>T, NM_001375819.1:c.661G>T, XM_005264175.6:c.1330G>T, XM_005264175.5:c.1330G>T, XM_005264175.4:c.1330G>T, XM_005264175.3:c.1330G>T, XM_005264175.2:c.1330G>T, XM_005264175.1:c.1330G>T, XM_011532667.4:c.661G>T, XM_011532667.3:c.661G>T, XM_011532667.2:c.661G>T, XM_011532667.1:c.661G>T, XM_011532662.3:c.1183G>T, XM_011532662.2:c.1183G>T, XM_011532662.1:c.1183G>T, XM_011532666.3:c.802G>T, XM_011532666.2:c.802G>T, XM_011532666.1:c.802G>T, XM_011532664.3:c.1330G>T, XM_011532664.2:c.1330G>T, XM_011532664.1:c.1330G>T, XM_017003526.2:c.1330G>T, XM_017003526.1:c.1330G>T, XM_017003527.2:c.661G>T, XM_017003527.1:c.661G>T, XM_047443594.1:c.850G>T, XM_047443592.1:c.1033G>T, XM_047443598.1:c.661G>T, XM_047443597.1:c.661G>T, XM_047443596.1:c.661G>T, XM_047443593.1:c.1330G>T, XM_047443599.1:c.661G>T, NP_072046.2:p.Glu444Ter, NP_715640.2:p.Glu255Ter, NP_783328.1:p.Glu444Ter, NP_001307822.1:p.Glu292Ter, NP_001362748.1:p.Glu221Ter, XP_005264232.1:p.Glu444Ter, XP_011530969.1:p.Glu221Ter, XP_011530964.1:p.Glu395Ter, XP_011530968.1:p.Glu268Ter, XP_011530966.1:p.Glu444Ter, XP_016859015.1:p.Glu444Ter, XP_016859016.1:p.Glu221Ter, XP_047299550.1:p.Glu284Ter, XP_047299548.1:p.Glu345Ter, XP_047299554.1:p.Glu221Ter, XP_047299553.1:p.Glu221Ter, XP_047299552.1:p.Glu221Ter, XP_047299549.1:p.Glu444Ter, XP_047299555.1:p.Glu221Ter

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