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Items: 1 to 20 of 773

1.

rs1488996303 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    13:100635176 (GRCh38)
    13:101287430 (GRCh37)
    Canonical SPDI:
    NC_000013.11:100635175:C:T
    Gene:
    TMTC4 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000013.11:g.100635176C>T, NC_000013.10:g.101287430C>T, NG_053145.1:g.44918G>A, NM_032813.5:c.1222G>A, NM_032813.4:c.1222G>A, NM_032813.3:c.1222G>A, NM_032813.2:c.1222G>A, NM_001079669.4:c.1165G>A, NM_001079669.3:c.1165G>A, NM_001079669.2:c.1165G>A, NM_001079669.1:c.1165G>A, NM_001286453.3:c.832G>A, NM_001286453.2:c.832G>A, NM_001286453.1:c.832G>A, NM_001350571.2:c.1396G>A, NM_001350571.1:c.1396G>A, NM_001350572.2:c.1165G>A, NM_001350572.1:c.1165G>A, NM_001350576.2:c.1216G>A, NM_001350576.1:c.1216G>A, NM_001350574.2:c.1339G>A, NM_001350574.1:c.1339G>A, NR_146794.2:n.1271G>A, NR_146794.1:n.1411G>A, NM_001350577.2:c.1159G>A, NM_001350577.1:c.1159G>A, XM_011521122.4:c.1396G>A, XM_011521122.3:c.1396G>A, XM_011521122.2:c.1396G>A, XM_011521122.1:c.1396G>A, XM_047430706.1:c.1222G>A, XM_047430705.1:c.1339G>A, NP_116202.2:p.Gly408Arg, NP_001073137.1:p.Gly389Arg, NP_001273382.1:p.Gly278Arg, NP_001337500.1:p.Gly466Arg, NP_001337501.1:p.Gly389Arg, NP_001337505.1:p.Gly406Arg, NP_001337503.1:p.Gly447Arg, NP_001337506.1:p.Gly387Arg, XP_011519424.1:p.Gly466Arg, XP_047286662.1:p.Gly408Arg, XP_047286661.1:p.Gly447Arg

    2.

    rs1488760316 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      13:100636552 (GRCh38)
      13:101288806 (GRCh37)
      Canonical SPDI:
      NC_000013.11:100636551:A:G
      Gene:
      TMTC4 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000015/4 (TOPMED)
      HGVS:
      NC_000013.11:g.100636552A>G, NC_000013.10:g.101288806A>G, NG_053145.1:g.43542T>C, NM_032813.5:c.1182T>C, NM_032813.4:c.1182T>C, NM_032813.3:c.1182T>C, NM_032813.2:c.1182T>C, NM_001079669.4:c.1125T>C, NM_001079669.3:c.1125T>C, NM_001079669.2:c.1125T>C, NM_001079669.1:c.1125T>C, NM_001286453.3:c.792T>C, NM_001286453.2:c.792T>C, NM_001286453.1:c.792T>C, NM_001350571.2:c.1356T>C, NM_001350571.1:c.1356T>C, NM_001350572.2:c.1125T>C, NM_001350572.1:c.1125T>C, NM_001350576.2:c.1176T>C, NM_001350576.1:c.1176T>C, NM_001350574.2:c.1299T>C, NM_001350574.1:c.1299T>C, NR_146794.2:n.1231T>C, NR_146794.1:n.1371T>C, NM_001350577.2:c.1119T>C, NM_001350577.1:c.1119T>C, XM_011521122.4:c.1356T>C, XM_011521122.3:c.1356T>C, XM_011521122.2:c.1356T>C, XM_011521122.1:c.1356T>C, XM_047430706.1:c.1182T>C, XM_047430705.1:c.1299T>C

      3.

      rs1484543954 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        13:100626145 (GRCh38)
        13:101278399 (GRCh37)
        Canonical SPDI:
        NC_000013.11:100626144:G:C
        Gene:
        TMTC4 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.0005/1 (Korea1K)
        HGVS:
        NC_000013.11:g.100626145G>C, NC_000013.10:g.101278399G>C, NG_053145.1:g.53949C>G, NM_032813.5:c.1512C>G, NM_032813.4:c.1512C>G, NM_032813.3:c.1512C>G, NM_032813.2:c.1512C>G, NM_001079669.4:c.1455C>G, NM_001079669.3:c.1455C>G, NM_001079669.2:c.1455C>G, NM_001079669.1:c.1455C>G, NM_001286453.3:c.1122C>G, NM_001286453.2:c.1122C>G, NM_001286453.1:c.1122C>G, NM_001350571.2:c.1686C>G, NM_001350571.1:c.1686C>G, NM_001350572.2:c.1455C>G, NM_001350572.1:c.1455C>G, NM_001350576.2:c.1506C>G, NM_001350576.1:c.1506C>G, NM_001350574.2:c.1629C>G, NM_001350574.1:c.1629C>G, NR_146794.2:n.1561C>G, NR_146794.1:n.1701C>G, NM_001350577.2:c.1449C>G, NM_001350577.1:c.1449C>G, XM_011521122.4:c.1686C>G, XM_011521122.3:c.1686C>G, XM_011521122.2:c.1686C>G, XM_011521122.1:c.1686C>G, XM_047430706.1:c.1512C>G, XM_047430705.1:c.1629C>G, NP_116202.2:p.His504Gln, NP_001073137.1:p.His485Gln, NP_001273382.1:p.His374Gln, NP_001337500.1:p.His562Gln, NP_001337501.1:p.His485Gln, NP_001337505.1:p.His502Gln, NP_001337503.1:p.His543Gln, NP_001337506.1:p.His483Gln, XP_011519424.1:p.His562Gln, XP_047286662.1:p.His504Gln, XP_047286661.1:p.His543Gln

        4.

        rs1482433511 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:100625848 (GRCh38)
          13:101278102 (GRCh37)
          Canonical SPDI:
          NC_000013.11:100625847:A:G
          Gene:
          TMTC4 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.100625848A>G, NC_000013.10:g.101278102A>G, NG_053145.1:g.54246T>C, NM_032813.5:c.1631T>C, NM_032813.4:c.1631T>C, NM_032813.3:c.1631T>C, NM_032813.2:c.1631T>C, NM_001079669.4:c.1574T>C, NM_001079669.3:c.1574T>C, NM_001079669.2:c.1574T>C, NM_001079669.1:c.1574T>C, NM_001286453.3:c.1241T>C, NM_001286453.2:c.1241T>C, NM_001286453.1:c.1241T>C, NM_001350571.2:c.1805T>C, NM_001350571.1:c.1805T>C, NM_001350572.2:c.1574T>C, NM_001350572.1:c.1574T>C, NM_001350576.2:c.1625T>C, NM_001350576.1:c.1625T>C, NM_001350574.2:c.1748T>C, NM_001350574.1:c.1748T>C, NR_146794.2:n.1680T>C, NR_146794.1:n.1820T>C, NM_001350577.2:c.1568T>C, NM_001350577.1:c.1568T>C, XM_011521122.4:c.1805T>C, XM_011521122.3:c.1805T>C, XM_011521122.2:c.1805T>C, XM_011521122.1:c.1805T>C, XM_047430706.1:c.1631T>C, XM_047430705.1:c.1748T>C, NP_116202.2:p.Ile544Thr, NP_001073137.1:p.Ile525Thr, NP_001273382.1:p.Ile414Thr, NP_001337500.1:p.Ile602Thr, NP_001337501.1:p.Ile525Thr, NP_001337505.1:p.Ile542Thr, NP_001337503.1:p.Ile583Thr, NP_001337506.1:p.Ile523Thr, XP_011519424.1:p.Ile602Thr, XP_047286662.1:p.Ile544Thr, XP_047286661.1:p.Ile583Thr

          5.

          rs1476712843 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            13:100663036 (GRCh38)
            13:101315290 (GRCh37)
            Canonical SPDI:
            NC_000013.11:100663035:C:T
            Gene:
            TMTC4 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000008/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1475994975 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              13:100664267 (GRCh38)
              13:101316521 (GRCh37)
              Canonical SPDI:
              NC_000013.11:100664266:T:G
              Gene:
              TMTC4 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
              HGVS:
              NC_000013.11:g.100664267T>G, NC_000013.10:g.101316521T>G, NG_053145.1:g.15827A>C, NM_032813.5:c.289A>C, NM_032813.4:c.289A>C, NM_032813.3:c.289A>C, NM_032813.2:c.289A>C, NM_001079669.4:c.232A>C, NM_001079669.3:c.232A>C, NM_001079669.2:c.232A>C, NM_001079669.1:c.232A>C, NM_001350571.2:c.289A>C, NM_001350571.1:c.289A>C, NM_001350572.2:c.232A>C, NM_001350572.1:c.232A>C, NM_001350576.2:c.289A>C, NM_001350576.1:c.289A>C, NM_001350574.2:c.232A>C, NM_001350574.1:c.232A>C, NR_146794.2:n.338A>C, NR_146794.1:n.478A>C, NM_001350577.2:c.232A>C, NM_001350577.1:c.232A>C, XM_011521122.4:c.289A>C, XM_011521122.3:c.289A>C, XM_011521122.2:c.289A>C, XM_011521122.1:c.289A>C, XM_047430706.1:c.289A>C, XM_047430705.1:c.232A>C, NP_116202.2:p.Asn97His, NP_001073137.1:p.Asn78His, NP_001337500.1:p.Asn97His, NP_001337501.1:p.Asn78His, NP_001337505.1:p.Asn97His, NP_001337503.1:p.Asn78His, NP_001337506.1:p.Asn78His, XP_011519424.1:p.Asn97His, XP_047286662.1:p.Asn97His, XP_047286661.1:p.Asn78His

              7.

              rs1474841908 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GGCCGT>- [Show Flanks]
                Chromosome:
                13:100636542 (GRCh38)
                13:101288796 (GRCh37)
                Canonical SPDI:
                NC_000013.11:100636539:GTGGCCGT:GT
                Gene:
                TMTC4 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.100636542_100636547del, NC_000013.10:g.101288796_101288801del, NG_053145.1:g.43549_43554del, NM_032813.5:c.1189_1194del, NM_032813.4:c.1189_1194del, NM_032813.3:c.1189_1194del, NM_032813.2:c.1189_1194del, NM_001079669.4:c.1132_1137del, NM_001079669.3:c.1132_1137del, NM_001079669.2:c.1132_1137del, NM_001079669.1:c.1132_1137del, NM_001286453.3:c.799_804del, NM_001286453.2:c.799_804del, NM_001286453.1:c.799_804del, NM_001350571.2:c.1363_1368del, NM_001350571.1:c.1363_1368del, NM_001350572.2:c.1132_1137del, NM_001350572.1:c.1132_1137del, NM_001350576.2:c.1183_1188del, NM_001350576.1:c.1183_1188del, NM_001350574.2:c.1306_1311del, NM_001350574.1:c.1306_1311del, NR_146794.2:n.1238_1243del, NR_146794.1:n.1378_1383del, NM_001350577.2:c.1126_1131del, NM_001350577.1:c.1126_1131del, XM_011521122.4:c.1363_1368del, XM_011521122.3:c.1363_1368del, XM_011521122.2:c.1363_1368del, XM_011521122.1:c.1363_1368del, XM_047430706.1:c.1189_1194del, XM_047430705.1:c.1306_1311del, NP_116202.2:p.Gly397_His398del, NP_001073137.1:p.Gly378_His379del, NP_001273382.1:p.Gly267_His268del, NP_001337500.1:p.Gly455_His456del, NP_001337501.1:p.Gly378_His379del, NP_001337505.1:p.Gly395_His396del, NP_001337503.1:p.Gly436_His437del, NP_001337506.1:p.Gly376_His377del, XP_011519424.1:p.Gly455_His456del, XP_047286662.1:p.Gly397_His398del, XP_047286661.1:p.Gly436_His437del

                8.

                rs1472790859 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  13:100636603 (GRCh38)
                  13:101288857 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:100636602:A:C,NC_000013.11:100636602:A:G
                  Gene:
                  TMTC4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000013.11:g.100636603A>C, NC_000013.11:g.100636603A>G, NC_000013.10:g.101288857A>C, NC_000013.10:g.101288857A>G, NG_053145.1:g.43491T>G, NG_053145.1:g.43491T>C, NM_032813.5:c.1131T>G, NM_032813.5:c.1131T>C, NM_032813.4:c.1131T>G, NM_032813.4:c.1131T>C, NM_032813.3:c.1131T>G, NM_032813.3:c.1131T>C, NM_032813.2:c.1131T>G, NM_032813.2:c.1131T>C, NM_001079669.4:c.1074T>G, NM_001079669.4:c.1074T>C, NM_001079669.3:c.1074T>G, NM_001079669.3:c.1074T>C, NM_001079669.2:c.1074T>G, NM_001079669.2:c.1074T>C, NM_001079669.1:c.1074T>G, NM_001079669.1:c.1074T>C, NM_001286453.3:c.741T>G, NM_001286453.3:c.741T>C, NM_001286453.2:c.741T>G, NM_001286453.2:c.741T>C, NM_001286453.1:c.741T>G, NM_001286453.1:c.741T>C, NM_001350571.2:c.1305T>G, NM_001350571.2:c.1305T>C, NM_001350571.1:c.1305T>G, NM_001350571.1:c.1305T>C, NM_001350572.2:c.1074T>G, NM_001350572.2:c.1074T>C, NM_001350572.1:c.1074T>G, NM_001350572.1:c.1074T>C, NM_001350576.2:c.1125T>G, NM_001350576.2:c.1125T>C, NM_001350576.1:c.1125T>G, NM_001350576.1:c.1125T>C, NM_001350574.2:c.1248T>G, NM_001350574.2:c.1248T>C, NM_001350574.1:c.1248T>G, NM_001350574.1:c.1248T>C, NR_146794.2:n.1180T>G, NR_146794.2:n.1180T>C, NR_146794.1:n.1320T>G, NR_146794.1:n.1320T>C, NM_001350577.2:c.1068T>G, NM_001350577.2:c.1068T>C, NM_001350577.1:c.1068T>G, NM_001350577.1:c.1068T>C, XM_011521122.4:c.1305T>G, XM_011521122.4:c.1305T>C, XM_011521122.3:c.1305T>G, XM_011521122.3:c.1305T>C, XM_011521122.2:c.1305T>G, XM_011521122.2:c.1305T>C, XM_011521122.1:c.1305T>G, XM_011521122.1:c.1305T>C, XM_047430706.1:c.1131T>G, XM_047430706.1:c.1131T>C, XM_047430705.1:c.1248T>G, XM_047430705.1:c.1248T>C

                  9.

                  rs1472364912 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    13:100663094 (GRCh38)
                    13:101315348 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:100663093:A:T
                    Gene:
                    TMTC4 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.100663094A>T, NC_000013.10:g.101315348A>T, NG_053145.1:g.17000T>A, NM_032813.5:c.422T>A, NM_032813.4:c.422T>A, NM_032813.3:c.422T>A, NM_032813.2:c.422T>A, NM_001079669.4:c.365T>A, NM_001079669.3:c.365T>A, NM_001079669.2:c.365T>A, NM_001079669.1:c.365T>A, NM_001350571.2:c.422T>A, NM_001350571.1:c.422T>A, NM_001350572.2:c.365T>A, NM_001350572.1:c.365T>A, NM_001350576.2:c.422T>A, NM_001350576.1:c.422T>A, NM_001350574.2:c.365T>A, NM_001350574.1:c.365T>A, NR_146794.2:n.471T>A, NR_146794.1:n.611T>A, NM_001350577.2:c.365T>A, NM_001350577.1:c.365T>A, XM_011521122.4:c.422T>A, XM_011521122.3:c.422T>A, XM_011521122.2:c.422T>A, XM_011521122.1:c.422T>A, XM_047430706.1:c.422T>A, XM_047430705.1:c.365T>A, NP_116202.2:p.Met141Lys, NP_001073137.1:p.Met122Lys, NP_001337500.1:p.Met141Lys, NP_001337501.1:p.Met122Lys, NP_001337505.1:p.Met141Lys, NP_001337503.1:p.Met122Lys, NP_001337506.1:p.Met122Lys, XP_011519424.1:p.Met141Lys, XP_047286662.1:p.Met141Lys, XP_047286661.1:p.Met122Lys

                    10.

                    rs1470490111 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      13:100612406 (GRCh38)
                      13:101264660 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:100612405:T:G
                      Gene:
                      TMTC4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000013.11:g.100612406T>G, NC_000013.10:g.101264660T>G, NG_053145.1:g.67688A>C, NM_032813.5:c.2056A>C, NM_032813.4:c.2056A>C, NM_032813.3:c.2056A>C, NM_032813.2:c.2056A>C, NM_001079669.4:c.1999A>C, NM_001079669.3:c.1999A>C, NM_001079669.2:c.1999A>C, NM_001079669.1:c.1999A>C, NM_001286453.3:c.1666A>C, NM_001286453.2:c.1666A>C, NM_001286453.1:c.1666A>C, NM_001350571.2:c.2230A>C, NM_001350571.1:c.2230A>C, NM_001350572.2:c.1999A>C, NM_001350572.1:c.1999A>C, NM_001350576.2:c.2050A>C, NM_001350576.1:c.2050A>C, NM_001350574.2:c.2173A>C, NM_001350574.1:c.2173A>C, NR_146794.2:n.2105A>C, NR_146794.1:n.2245A>C, NM_001350577.2:c.1993A>C, NM_001350577.1:c.1993A>C, XM_011521122.4:c.2230A>C, XM_011521122.3:c.2230A>C, XM_011521122.2:c.2230A>C, XM_011521122.1:c.2230A>C, XM_047430706.1:c.2056A>C, XM_047430705.1:c.2173A>C, NP_116202.2:p.Lys686Gln, NP_001073137.1:p.Lys667Gln, NP_001273382.1:p.Lys556Gln, NP_001337500.1:p.Lys744Gln, NP_001337501.1:p.Lys667Gln, NP_001337505.1:p.Lys684Gln, NP_001337503.1:p.Lys725Gln, NP_001337506.1:p.Lys665Gln, XP_011519424.1:p.Lys744Gln, XP_047286662.1:p.Lys686Gln, XP_047286661.1:p.Lys725Gln

                      11.

                      rs1469393387 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:100637552 (GRCh38)
                        13:101289806 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:100637551:T:C
                        Gene:
                        TMTC4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000013.11:g.100637552T>C, NC_000013.10:g.101289806T>C, NG_053145.1:g.42542A>G, NM_032813.5:c.985A>G, NM_032813.4:c.985A>G, NM_032813.3:c.985A>G, NM_032813.2:c.985A>G, NM_001079669.4:c.928A>G, NM_001079669.3:c.928A>G, NM_001079669.2:c.928A>G, NM_001079669.1:c.928A>G, NM_001286453.3:c.595A>G, NM_001286453.2:c.595A>G, NM_001286453.1:c.595A>G, NM_001350571.2:c.1159A>G, NM_001350571.1:c.1159A>G, NM_001350572.2:c.928A>G, NM_001350572.1:c.928A>G, NM_001350576.2:c.985A>G, NM_001350576.1:c.985A>G, NM_001350574.2:c.1102A>G, NM_001350574.1:c.1102A>G, NR_146794.2:n.1034A>G, NR_146794.1:n.1174A>G, NM_001350577.2:c.928A>G, NM_001350577.1:c.928A>G, XM_011521122.4:c.1159A>G, XM_011521122.3:c.1159A>G, XM_011521122.2:c.1159A>G, XM_011521122.1:c.1159A>G, XM_047430706.1:c.985A>G, XM_047430705.1:c.1102A>G, NP_116202.2:p.Ser329Gly, NP_001073137.1:p.Ser310Gly, NP_001273382.1:p.Ser199Gly, NP_001337500.1:p.Ser387Gly, NP_001337501.1:p.Ser310Gly, NP_001337505.1:p.Ser329Gly, NP_001337503.1:p.Ser368Gly, NP_001337506.1:p.Ser310Gly, XP_011519424.1:p.Ser387Gly, XP_047286662.1:p.Ser329Gly, XP_047286661.1:p.Ser368Gly

                        12.

                        rs1466233067 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          13:100635083 (GRCh38)
                          13:101287337 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:100635082:C:A
                          Gene:
                          TMTC4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.100635083C>A, NC_000013.10:g.101287337C>A, NG_053145.1:g.45011G>T, NM_032813.5:c.1315G>T, NM_032813.4:c.1315G>T, NM_032813.3:c.1315G>T, NM_032813.2:c.1315G>T, NM_001079669.4:c.1258G>T, NM_001079669.3:c.1258G>T, NM_001079669.2:c.1258G>T, NM_001079669.1:c.1258G>T, NM_001286453.3:c.925G>T, NM_001286453.2:c.925G>T, NM_001286453.1:c.925G>T, NM_001350571.2:c.1489G>T, NM_001350571.1:c.1489G>T, NM_001350572.2:c.1258G>T, NM_001350572.1:c.1258G>T, NM_001350576.2:c.1309G>T, NM_001350576.1:c.1309G>T, NM_001350574.2:c.1432G>T, NM_001350574.1:c.1432G>T, NR_146794.2:n.1364G>T, NR_146794.1:n.1504G>T, NM_001350577.2:c.1252G>T, NM_001350577.1:c.1252G>T, XM_011521122.4:c.1489G>T, XM_011521122.3:c.1489G>T, XM_011521122.2:c.1489G>T, XM_011521122.1:c.1489G>T, XM_047430706.1:c.1315G>T, XM_047430705.1:c.1432G>T, NP_116202.2:p.Gly439Trp, NP_001073137.1:p.Gly420Trp, NP_001273382.1:p.Gly309Trp, NP_001337500.1:p.Gly497Trp, NP_001337501.1:p.Gly420Trp, NP_001337505.1:p.Gly437Trp, NP_001337503.1:p.Gly478Trp, NP_001337506.1:p.Gly418Trp, XP_011519424.1:p.Gly497Trp, XP_047286662.1:p.Gly439Trp, XP_047286661.1:p.Gly478Trp

                          13.

                          rs1462383234 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            13:100612411 (GRCh38)
                            13:101264665 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:100612410:G:C
                            Gene:
                            TMTC4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000013.11:g.100612411G>C, NC_000013.10:g.101264665G>C, NG_053145.1:g.67683C>G, NM_032813.5:c.2051C>G, NM_032813.4:c.2051C>G, NM_032813.3:c.2051C>G, NM_032813.2:c.2051C>G, NM_001079669.4:c.1994C>G, NM_001079669.3:c.1994C>G, NM_001079669.2:c.1994C>G, NM_001079669.1:c.1994C>G, NM_001286453.3:c.1661C>G, NM_001286453.2:c.1661C>G, NM_001286453.1:c.1661C>G, NM_001350571.2:c.2225C>G, NM_001350571.1:c.2225C>G, NM_001350572.2:c.1994C>G, NM_001350572.1:c.1994C>G, NM_001350576.2:c.2045C>G, NM_001350576.1:c.2045C>G, NM_001350574.2:c.2168C>G, NM_001350574.1:c.2168C>G, NR_146794.2:n.2100C>G, NR_146794.1:n.2240C>G, NM_001350577.2:c.1988C>G, NM_001350577.1:c.1988C>G, XM_011521122.4:c.2225C>G, XM_011521122.3:c.2225C>G, XM_011521122.2:c.2225C>G, XM_011521122.1:c.2225C>G, XM_047430706.1:c.2051C>G, XM_047430705.1:c.2168C>G, NP_116202.2:p.Ser684Cys, NP_001073137.1:p.Ser665Cys, NP_001273382.1:p.Ser554Cys, NP_001337500.1:p.Ser742Cys, NP_001337501.1:p.Ser665Cys, NP_001337505.1:p.Ser682Cys, NP_001337503.1:p.Ser723Cys, NP_001337506.1:p.Ser663Cys, XP_011519424.1:p.Ser742Cys, XP_047286662.1:p.Ser684Cys, XP_047286661.1:p.Ser723Cys

                            14.

                            rs1462116959 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              13:100634874 (GRCh38)
                              13:101287128 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:100634873:G:A
                              Gene:
                              TMTC4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000013.11:g.100634874G>A, NC_000013.10:g.101287128G>A, NG_053145.1:g.45220C>T, NM_032813.5:c.1437C>T, NM_032813.4:c.1437C>T, NM_032813.3:c.1437C>T, NM_032813.2:c.1437C>T, NM_001079669.4:c.1380C>T, NM_001079669.3:c.1380C>T, NM_001079669.2:c.1380C>T, NM_001079669.1:c.1380C>T, NM_001286453.3:c.1047C>T, NM_001286453.2:c.1047C>T, NM_001286453.1:c.1047C>T, NM_001350571.2:c.1611C>T, NM_001350571.1:c.1611C>T, NM_001350572.2:c.1380C>T, NM_001350572.1:c.1380C>T, NM_001350576.2:c.1431C>T, NM_001350576.1:c.1431C>T, NM_001350574.2:c.1554C>T, NM_001350574.1:c.1554C>T, NR_146794.2:n.1486C>T, NR_146794.1:n.1626C>T, NM_001350577.2:c.1374C>T, NM_001350577.1:c.1374C>T, XM_011521122.4:c.1611C>T, XM_011521122.3:c.1611C>T, XM_011521122.2:c.1611C>T, XM_011521122.1:c.1611C>T, XM_047430706.1:c.1437C>T, XM_047430705.1:c.1554C>T

                              15.

                              rs1461578158 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                13:100662986 (GRCh38)
                                13:101315240 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:100662985:A:T
                                Gene:
                                TMTC4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000013.11:g.100662986A>T, NC_000013.10:g.101315240A>T, NG_053145.1:g.17108T>A, NM_032813.5:c.530T>A, NM_032813.4:c.530T>A, NM_032813.3:c.530T>A, NM_032813.2:c.530T>A, NM_001079669.4:c.473T>A, NM_001079669.3:c.473T>A, NM_001079669.2:c.473T>A, NM_001079669.1:c.473T>A, NM_001350571.2:c.530T>A, NM_001350571.1:c.530T>A, NM_001350572.2:c.473T>A, NM_001350572.1:c.473T>A, NM_001350576.2:c.530T>A, NM_001350576.1:c.530T>A, NM_001350574.2:c.473T>A, NM_001350574.1:c.473T>A, NR_146794.2:n.579T>A, NR_146794.1:n.719T>A, NM_001350577.2:c.473T>A, NM_001350577.1:c.473T>A, XM_011521122.4:c.530T>A, XM_011521122.3:c.530T>A, XM_011521122.2:c.530T>A, XM_011521122.1:c.530T>A, XM_047430706.1:c.530T>A, XM_047430705.1:c.473T>A, NP_116202.2:p.Val177Asp, NP_001073137.1:p.Val158Asp, NP_001337500.1:p.Val177Asp, NP_001337501.1:p.Val158Asp, NP_001337505.1:p.Val177Asp, NP_001337503.1:p.Val158Asp, NP_001337506.1:p.Val158Asp, XP_011519424.1:p.Val177Asp, XP_047286662.1:p.Val177Asp, XP_047286661.1:p.Val158Asp

                                16.

                                rs1460254823 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:100637549 (GRCh38)
                                  13:101289803 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:100637548:T:C
                                  Gene:
                                  TMTC4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000013.11:g.100637549T>C, NC_000013.10:g.101289803T>C, NG_053145.1:g.42545A>G, NM_032813.5:c.988A>G, NM_032813.4:c.988A>G, NM_032813.3:c.988A>G, NM_032813.2:c.988A>G, NM_001079669.4:c.931A>G, NM_001079669.3:c.931A>G, NM_001079669.2:c.931A>G, NM_001079669.1:c.931A>G, NM_001286453.3:c.598A>G, NM_001286453.2:c.598A>G, NM_001286453.1:c.598A>G, NM_001350571.2:c.1162A>G, NM_001350571.1:c.1162A>G, NM_001350572.2:c.931A>G, NM_001350572.1:c.931A>G, NM_001350576.2:c.988A>G, NM_001350576.1:c.988A>G, NM_001350574.2:c.1105A>G, NM_001350574.1:c.1105A>G, NR_146794.2:n.1037A>G, NR_146794.1:n.1177A>G, NM_001350577.2:c.931A>G, NM_001350577.1:c.931A>G, XM_011521122.4:c.1162A>G, XM_011521122.3:c.1162A>G, XM_011521122.2:c.1162A>G, XM_011521122.1:c.1162A>G, XM_047430706.1:c.988A>G, XM_047430705.1:c.1105A>G, NP_116202.2:p.Met330Val, NP_001073137.1:p.Met311Val, NP_001273382.1:p.Met200Val, NP_001337500.1:p.Met388Val, NP_001337501.1:p.Met311Val, NP_001337505.1:p.Met330Val, NP_001337503.1:p.Met369Val, NP_001337506.1:p.Met311Val, XP_011519424.1:p.Met388Val, XP_047286662.1:p.Met330Val, XP_047286661.1:p.Met369Val

                                  17.

                                  rs1460199049 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    13:100634931 (GRCh38)
                                    13:101287185 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:100634930:G:A,NC_000013.11:100634930:G:C,NC_000013.11:100634930:G:T
                                    Gene:
                                    TMTC4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000013.11:g.100634931G>A, NC_000013.11:g.100634931G>C, NC_000013.11:g.100634931G>T, NC_000013.10:g.101287185G>A, NC_000013.10:g.101287185G>C, NC_000013.10:g.101287185G>T, NG_053145.1:g.45163C>T, NG_053145.1:g.45163C>G, NG_053145.1:g.45163C>A, NM_032813.5:c.1380C>T, NM_032813.5:c.1380C>G, NM_032813.5:c.1380C>A, NM_032813.4:c.1380C>T, NM_032813.4:c.1380C>G, NM_032813.4:c.1380C>A, NM_032813.3:c.1380C>T, NM_032813.3:c.1380C>G, NM_032813.3:c.1380C>A, NM_032813.2:c.1380C>T, NM_032813.2:c.1380C>G, NM_032813.2:c.1380C>A, NM_001079669.4:c.1323C>T, NM_001079669.4:c.1323C>G, NM_001079669.4:c.1323C>A, NM_001079669.3:c.1323C>T, NM_001079669.3:c.1323C>G, NM_001079669.3:c.1323C>A, NM_001079669.2:c.1323C>T, NM_001079669.2:c.1323C>G, NM_001079669.2:c.1323C>A, NM_001079669.1:c.1323C>T, NM_001079669.1:c.1323C>G, NM_001079669.1:c.1323C>A, NM_001286453.3:c.990C>T, NM_001286453.3:c.990C>G, NM_001286453.3:c.990C>A, NM_001286453.2:c.990C>T, NM_001286453.2:c.990C>G, NM_001286453.2:c.990C>A, NM_001286453.1:c.990C>T, NM_001286453.1:c.990C>G, NM_001286453.1:c.990C>A, NM_001350571.2:c.1554C>T, NM_001350571.2:c.1554C>G, NM_001350571.2:c.1554C>A, NM_001350571.1:c.1554C>T, NM_001350571.1:c.1554C>G, NM_001350571.1:c.1554C>A, NM_001350572.2:c.1323C>T, NM_001350572.2:c.1323C>G, NM_001350572.2:c.1323C>A, NM_001350572.1:c.1323C>T, NM_001350572.1:c.1323C>G, NM_001350572.1:c.1323C>A, NM_001350576.2:c.1374C>T, NM_001350576.2:c.1374C>G, NM_001350576.2:c.1374C>A, NM_001350576.1:c.1374C>T, NM_001350576.1:c.1374C>G, NM_001350576.1:c.1374C>A, NM_001350574.2:c.1497C>T, NM_001350574.2:c.1497C>G, NM_001350574.2:c.1497C>A, NM_001350574.1:c.1497C>T, NM_001350574.1:c.1497C>G, NM_001350574.1:c.1497C>A, NR_146794.2:n.1429C>T, NR_146794.2:n.1429C>G, NR_146794.2:n.1429C>A, NR_146794.1:n.1569C>T, NR_146794.1:n.1569C>G, NR_146794.1:n.1569C>A, NM_001350577.2:c.1317C>T, NM_001350577.2:c.1317C>G, NM_001350577.2:c.1317C>A, NM_001350577.1:c.1317C>T, NM_001350577.1:c.1317C>G, NM_001350577.1:c.1317C>A, XM_011521122.4:c.1554C>T, XM_011521122.4:c.1554C>G, XM_011521122.4:c.1554C>A, XM_011521122.3:c.1554C>T, XM_011521122.3:c.1554C>G, XM_011521122.3:c.1554C>A, XM_011521122.2:c.1554C>T, XM_011521122.2:c.1554C>G, XM_011521122.2:c.1554C>A, XM_011521122.1:c.1554C>T, XM_011521122.1:c.1554C>G, XM_011521122.1:c.1554C>A, XM_047430706.1:c.1380C>T, XM_047430706.1:c.1380C>G, XM_047430706.1:c.1380C>A, XM_047430705.1:c.1497C>T, XM_047430705.1:c.1497C>G, XM_047430705.1:c.1497C>A

                                    18.

                                    rs1460014147 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      A>- [Show Flanks]
                                      Chromosome:
                                      13:100604996 (GRCh38)
                                      13:101257250 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:100604995:A:
                                      Gene:
                                      TMTC4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,terminator_codon_variant,frameshift_variant,stop_lost
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000013.11:g.100604996del, NC_000013.10:g.101257250del, NG_053145.1:g.75098del, NM_032813.5:c.2281del, NM_032813.4:c.2281del, NM_032813.3:c.2281del, NM_032813.2:c.2281del, NM_001079669.4:c.2224del, NM_001079669.3:c.2224del, NM_001079669.2:c.2224del, NM_001079669.1:c.2224del, NM_001286453.3:c.1891del, NM_001286453.2:c.1891del, NM_001286453.1:c.1891del, NM_001350571.2:c.2455del, NM_001350571.1:c.2455del, NM_001350572.2:c.2224del, NM_001350572.1:c.2224del, NM_001350576.2:c.2275del, NM_001350576.1:c.2275del, NM_001350574.2:c.2398del, NM_001350574.1:c.2398del, NR_146794.2:n.2448del, NR_146794.1:n.2588del, NM_001350577.2:c.2218del, NM_001350577.1:c.2218del, XM_011521122.4:c.2455del, XM_011521122.3:c.2455del, XM_011521122.2:c.2455del, XM_011521122.1:c.2455del, XM_047430706.1:c.2281del, XM_047430705.1:c.2398del, NP_116202.2:p.Ter761AspextTer?, NP_001073137.1:p.Ter742AspextTer?, NP_001273382.1:p.Ter631AspextTer?, NP_001337500.1:p.Ter819AspextTer?, NP_001337501.1:p.Ter742AspextTer?, NP_001337505.1:p.Ter759AspextTer?, NP_001337503.1:p.Ter800AspextTer?, NP_001337506.1:p.Ter740AspextTer?, XP_011519424.1:p.Ter819AspextTer?, XP_047286662.1:p.Ter761AspextTer?, XP_047286661.1:p.Ter800AspextTer?

                                      19.

                                      rs1456614774 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        13:100642249 (GRCh38)
                                        13:101294503 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:100642248:C:G,NC_000013.11:100642248:C:T
                                        Gene:
                                        TMTC4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000013.11:g.100642249C>G, NC_000013.11:g.100642249C>T, NC_000013.10:g.101294503C>G, NC_000013.10:g.101294503C>T, NG_053145.1:g.37845G>C, NG_053145.1:g.37845G>A, NM_032813.5:c.703G>C, NM_032813.5:c.703G>A, NM_032813.4:c.703G>C, NM_032813.4:c.703G>A, NM_032813.3:c.703G>C, NM_032813.3:c.703G>A, NM_032813.2:c.703G>C, NM_032813.2:c.703G>A, NM_001079669.4:c.646G>C, NM_001079669.4:c.646G>A, NM_001079669.3:c.646G>C, NM_001079669.3:c.646G>A, NM_001079669.2:c.646G>C, NM_001079669.2:c.646G>A, NM_001079669.1:c.646G>C, NM_001079669.1:c.646G>A, NM_001286453.3:c.313G>C, NM_001286453.3:c.313G>A, NM_001286453.2:c.313G>C, NM_001286453.2:c.313G>A, NM_001286453.1:c.313G>C, NM_001286453.1:c.313G>A, NM_001350571.2:c.703G>C, NM_001350571.2:c.703G>A, NM_001350571.1:c.703G>C, NM_001350571.1:c.703G>A, NM_001350572.2:c.646G>C, NM_001350572.2:c.646G>A, NM_001350572.1:c.646G>C, NM_001350572.1:c.646G>A, NM_001350576.2:c.703G>C, NM_001350576.2:c.703G>A, NM_001350576.1:c.703G>C, NM_001350576.1:c.703G>A, NM_001350574.2:c.646G>C, NM_001350574.2:c.646G>A, NM_001350574.1:c.646G>C, NM_001350574.1:c.646G>A, NR_146794.2:n.752G>C, NR_146794.2:n.752G>A, NR_146794.1:n.892G>C, NR_146794.1:n.892G>A, NM_001350577.2:c.646G>C, NM_001350577.2:c.646G>A, NM_001350577.1:c.646G>C, NM_001350577.1:c.646G>A, XM_011521122.4:c.703G>C, XM_011521122.4:c.703G>A, XM_011521122.3:c.703G>C, XM_011521122.3:c.703G>A, XM_011521122.2:c.703G>C, XM_011521122.2:c.703G>A, XM_011521122.1:c.703G>C, XM_011521122.1:c.703G>A, XM_047430706.1:c.703G>C, XM_047430706.1:c.703G>A, XM_047430705.1:c.646G>C, XM_047430705.1:c.646G>A, NP_116202.2:p.Val235Leu, NP_116202.2:p.Val235Met, NP_001073137.1:p.Val216Leu, NP_001073137.1:p.Val216Met, NP_001273382.1:p.Val105Leu, NP_001273382.1:p.Val105Met, NP_001337500.1:p.Val235Leu, NP_001337500.1:p.Val235Met, NP_001337501.1:p.Val216Leu, NP_001337501.1:p.Val216Met, NP_001337505.1:p.Val235Leu, NP_001337505.1:p.Val235Met, NP_001337503.1:p.Val216Leu, NP_001337503.1:p.Val216Met, NP_001337506.1:p.Val216Leu, NP_001337506.1:p.Val216Met, XP_011519424.1:p.Val235Leu, XP_011519424.1:p.Val235Met, XP_047286662.1:p.Val235Leu, XP_047286662.1:p.Val235Met, XP_047286661.1:p.Val216Leu, XP_047286661.1:p.Val216Met

                                        20.

                                        rs1453921089 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          13:100642268 (GRCh38)
                                          13:101294522 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:100642267:C:A,NC_000013.11:100642267:C:G
                                          Gene:
                                          TMTC4 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.100642268C>A, NC_000013.11:g.100642268C>G, NC_000013.10:g.101294522C>A, NC_000013.10:g.101294522C>G, NG_053145.1:g.37826G>T, NG_053145.1:g.37826G>C, NM_032813.5:c.684G>T, NM_032813.5:c.684G>C, NM_032813.4:c.684G>T, NM_032813.4:c.684G>C, NM_032813.3:c.684G>T, NM_032813.3:c.684G>C, NM_032813.2:c.684G>T, NM_032813.2:c.684G>C, NM_001079669.4:c.627G>T, NM_001079669.4:c.627G>C, NM_001079669.3:c.627G>T, NM_001079669.3:c.627G>C, NM_001079669.2:c.627G>T, NM_001079669.2:c.627G>C, NM_001079669.1:c.627G>T, NM_001079669.1:c.627G>C, NM_001286453.3:c.294G>T, NM_001286453.3:c.294G>C, NM_001286453.2:c.294G>T, NM_001286453.2:c.294G>C, NM_001286453.1:c.294G>T, NM_001286453.1:c.294G>C, NM_001350571.2:c.684G>T, NM_001350571.2:c.684G>C, NM_001350571.1:c.684G>T, NM_001350571.1:c.684G>C, NM_001350572.2:c.627G>T, NM_001350572.2:c.627G>C, NM_001350572.1:c.627G>T, NM_001350572.1:c.627G>C, NM_001350576.2:c.684G>T, NM_001350576.2:c.684G>C, NM_001350576.1:c.684G>T, NM_001350576.1:c.684G>C, NM_001350574.2:c.627G>T, NM_001350574.2:c.627G>C, NM_001350574.1:c.627G>T, NM_001350574.1:c.627G>C, NR_146794.2:n.733G>T, NR_146794.2:n.733G>C, NR_146794.1:n.873G>T, NR_146794.1:n.873G>C, NM_001350577.2:c.627G>T, NM_001350577.2:c.627G>C, NM_001350577.1:c.627G>T, NM_001350577.1:c.627G>C, XM_011521122.4:c.684G>T, XM_011521122.4:c.684G>C, XM_011521122.3:c.684G>T, XM_011521122.3:c.684G>C, XM_011521122.2:c.684G>T, XM_011521122.2:c.684G>C, XM_011521122.1:c.684G>T, XM_011521122.1:c.684G>C, XM_047430706.1:c.684G>T, XM_047430706.1:c.684G>C, XM_047430705.1:c.627G>T, XM_047430705.1:c.627G>C

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