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Items: 1 to 20 of 1296

1.

rs1490383372 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    14:104006700 (GRCh38)
    14:104473037 (GRCh37)
    Canonical SPDI:
    NC_000014.9:104006699:A:T
    Gene:
    TDRD9 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000014.9:g.104006700A>T, NC_000014.8:g.104473037A>T, XM_005267309.5:c.1934A>T, XM_005267309.4:c.1934A>T, XM_005267309.3:c.1934A>T, XM_005267309.2:c.1934A>T, XM_005267309.1:c.1934A>T, XM_006720019.4:c.1934A>T, XM_006720019.3:c.1934A>T, XM_006720019.2:c.1934A>T, XM_006720019.1:c.1934A>T, XM_006720020.4:c.1853A>T, XM_006720020.3:c.1853A>T, XM_006720020.2:c.1853A>T, XM_006720020.1:c.1853A>T, XM_011536398.4:c.1820A>T, XM_011536398.3:c.1820A>T, XM_011536398.2:c.1820A>T, XM_011536398.1:c.1820A>T, NM_153046.3:c.1934A>T, NM_153046.2:c.1934A>T, XM_011536397.3:c.1829A>T, XM_011536397.2:c.1829A>T, XM_011536397.1:c.1829A>T, XM_011536400.3:c.1673A>T, XM_011536400.2:c.1673A>T, XM_011536400.1:c.1673A>T, XM_011536402.3:c.848A>T, XM_011536402.2:c.848A>T, XM_011536402.1:c.848A>T, XM_047430909.1:c.1853A>T, XM_047430910.1:c.1829A>T, XM_047430911.1:c.1820A>T, XM_047430912.1:c.1748A>T, XP_005267366.1:p.Asp645Val, XP_006720082.1:p.Asp645Val, XP_006720083.1:p.Asp618Val, XP_011534700.1:p.Asp607Val, NP_694591.2:p.Asp645Val, XP_011534699.1:p.Asp610Val, XP_011534702.1:p.Asp558Val, XP_011534704.1:p.Asp283Val, XP_047286865.1:p.Asp618Val, XP_047286866.1:p.Asp610Val, XP_047286867.1:p.Asp607Val, XP_047286868.1:p.Asp583Val

    2.

    rs1490221783 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      14:104042099 (GRCh38)
      14:104508436 (GRCh37)
      Canonical SPDI:
      NC_000014.9:104042098:C:G
      Gene:
      TDRD9 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000014.9:g.104042099C>G, NC_000014.8:g.104508436C>G, XM_005267309.5:c.3730C>G, XM_005267309.4:c.3730C>G, XM_005267309.3:c.3730C>G, XM_005267309.2:c.3730C>G, XM_005267309.1:c.3730C>G, XM_006720019.4:c.3886C>G, XM_006720019.3:c.3886C>G, XM_006720019.2:c.3886C>G, XM_006720019.1:c.3886C>G, XM_006720020.4:c.3805C>G, XM_006720020.3:c.3805C>G, XM_006720020.2:c.3805C>G, XM_006720020.1:c.3805C>G, XM_011536398.4:c.3772C>G, XM_011536398.3:c.3772C>G, XM_011536398.2:c.3772C>G, XM_011536398.1:c.3772C>G, NM_153046.3:c.3886C>G, NM_153046.2:c.3886C>G, XM_011536397.3:c.3781C>G, XM_011536397.2:c.3781C>G, XM_011536397.1:c.3781C>G, XM_011536400.3:c.3625C>G, XM_011536400.2:c.3625C>G, XM_011536400.1:c.3625C>G, XM_011536402.3:c.2800C>G, XM_011536402.2:c.2800C>G, XM_011536402.1:c.2800C>G, XM_047430909.1:c.3649C>G, XM_047430910.1:c.3625C>G, XM_047430911.1:c.3616C>G, XM_047430912.1:c.3544C>G, XP_005267366.1:p.Leu1244Val, XP_006720082.1:p.Leu1296Val, XP_006720083.1:p.Leu1269Val, XP_011534700.1:p.Leu1258Val, NP_694591.2:p.Leu1296Val, XP_011534699.1:p.Leu1261Val, XP_011534702.1:p.Leu1209Val, XP_011534704.1:p.Leu934Val, XP_047286865.1:p.Leu1217Val, XP_047286866.1:p.Leu1209Val, XP_047286867.1:p.Leu1206Val, XP_047286868.1:p.Leu1182Val

      3.

      rs1490052512 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        14:103994528 (GRCh38)
        14:104460865 (GRCh37)
        Canonical SPDI:
        NC_000014.9:103994527:C:G
        Gene:
        TDRD9 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000014.9:g.103994528C>G, NC_000014.8:g.104460865C>G, XM_005267309.5:c.1245C>G, XM_005267309.4:c.1245C>G, XM_005267309.3:c.1245C>G, XM_005267309.2:c.1245C>G, XM_005267309.1:c.1245C>G, XM_006720019.4:c.1245C>G, XM_006720019.3:c.1245C>G, XM_006720019.2:c.1245C>G, XM_006720019.1:c.1245C>G, XM_006720020.4:c.1164C>G, XM_006720020.3:c.1164C>G, XM_006720020.2:c.1164C>G, XM_006720020.1:c.1164C>G, XM_011536398.4:c.1131C>G, XM_011536398.3:c.1131C>G, XM_011536398.2:c.1131C>G, XM_011536398.1:c.1131C>G, NM_153046.3:c.1245C>G, NM_153046.2:c.1245C>G, XM_011536397.3:c.1245C>G, XM_011536397.2:c.1245C>G, XM_011536397.1:c.1245C>G, XM_011536400.3:c.1245C>G, XM_011536400.2:c.1245C>G, XM_011536400.1:c.1245C>G, XM_011536402.3:c.159C>G, XM_011536402.2:c.159C>G, XM_011536402.1:c.159C>G, XM_047430909.1:c.1164C>G, XM_047430910.1:c.1245C>G, XM_047430911.1:c.1131C>G, XM_047430912.1:c.1164C>G

        4.

        rs1489504333 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:104034039 (GRCh38)
          14:104500376 (GRCh37)
          Canonical SPDI:
          NC_000014.9:104034038:G:A
          Gene:
          TDRD9 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000014.9:g.104034039G>A, NC_000014.8:g.104500376G>A, XM_005267309.5:c.3433G>A, XM_005267309.4:c.3433G>A, XM_005267309.3:c.3433G>A, XM_005267309.2:c.3433G>A, XM_005267309.1:c.3433G>A, XM_006720019.4:c.3589G>A, XM_006720019.3:c.3589G>A, XM_006720019.2:c.3589G>A, XM_006720019.1:c.3589G>A, XM_006720020.4:c.3508G>A, XM_006720020.3:c.3508G>A, XM_006720020.2:c.3508G>A, XM_006720020.1:c.3508G>A, XM_011536398.4:c.3475G>A, XM_011536398.3:c.3475G>A, XM_011536398.2:c.3475G>A, XM_011536398.1:c.3475G>A, NM_153046.3:c.3589G>A, NM_153046.2:c.3589G>A, XM_011536397.3:c.3484G>A, XM_011536397.2:c.3484G>A, XM_011536397.1:c.3484G>A, XM_011536400.3:c.3328G>A, XM_011536400.2:c.3328G>A, XM_011536400.1:c.3328G>A, XM_011536402.3:c.2503G>A, XM_011536402.2:c.2503G>A, XM_011536402.1:c.2503G>A, XM_047430909.1:c.3352G>A, XM_047430910.1:c.3328G>A, XM_047430911.1:c.3319G>A, XM_047430912.1:c.3247G>A, XP_005267366.1:p.Val1145Ile, XP_006720082.1:p.Val1197Ile, XP_006720083.1:p.Val1170Ile, XP_011534700.1:p.Val1159Ile, NP_694591.2:p.Val1197Ile, XP_011534699.1:p.Val1162Ile, XP_011534702.1:p.Val1110Ile, XP_011534704.1:p.Val835Ile, XP_047286865.1:p.Val1118Ile, XP_047286866.1:p.Val1110Ile, XP_047286867.1:p.Val1107Ile, XP_047286868.1:p.Val1083Ile

          5.

          rs1488533044 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            14:103928720 (GRCh38)
            14:104395057 (GRCh37)
            Canonical SPDI:
            NC_000014.9:103928719:G:C
            Gene:
            TDRD9 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000014.9:g.103928720G>C, NC_000014.8:g.104395057G>C, XM_005267309.5:c.211G>C, XM_005267309.4:c.211G>C, XM_005267309.3:c.211G>C, XM_005267309.2:c.211G>C, XM_005267309.1:c.211G>C, XM_006720019.4:c.211G>C, XM_006720019.3:c.211G>C, XM_006720019.2:c.211G>C, XM_006720019.1:c.211G>C, XM_006720020.4:c.211G>C, XM_006720020.3:c.211G>C, XM_006720020.2:c.211G>C, XM_006720020.1:c.211G>C, NM_153046.3:c.211G>C, NM_153046.2:c.211G>C, XM_011536397.3:c.211G>C, XM_011536397.2:c.211G>C, XM_011536397.1:c.211G>C, XM_011536400.3:c.211G>C, XM_011536400.2:c.211G>C, XM_011536400.1:c.211G>C, XM_047430909.1:c.211G>C, XM_047430910.1:c.211G>C, XM_047430912.1:c.211G>C, XP_005267366.1:p.Glu71Gln, XP_006720082.1:p.Glu71Gln, XP_006720083.1:p.Glu71Gln, NP_694591.2:p.Glu71Gln, XP_011534699.1:p.Glu71Gln, XP_011534702.1:p.Glu71Gln, XP_047286865.1:p.Glu71Gln, XP_047286866.1:p.Glu71Gln, XP_047286868.1:p.Glu71Gln

            6.

            rs1486603007 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              14:103965349 (GRCh38)
              14:104431686 (GRCh37)
              Canonical SPDI:
              NC_000014.9:103965348:A:G
              Gene:
              TDRD9 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000014.9:g.103965349A>G, NC_000014.8:g.104431686A>G, XM_005267309.5:c.437A>G, XM_005267309.4:c.437A>G, XM_005267309.3:c.437A>G, XM_005267309.2:c.437A>G, XM_005267309.1:c.437A>G, XM_006720019.4:c.437A>G, XM_006720019.3:c.437A>G, XM_006720019.2:c.437A>G, XM_006720019.1:c.437A>G, XM_006720020.4:c.437A>G, XM_006720020.3:c.437A>G, XM_006720020.2:c.437A>G, XM_006720020.1:c.437A>G, XM_011536398.4:c.323A>G, XM_011536398.3:c.323A>G, XM_011536398.2:c.323A>G, XM_011536398.1:c.323A>G, NM_153046.3:c.437A>G, NM_153046.2:c.437A>G, XM_011536397.3:c.437A>G, XM_011536397.2:c.437A>G, XM_011536397.1:c.437A>G, XM_011536400.3:c.437A>G, XM_011536400.2:c.437A>G, XM_011536400.1:c.437A>G, XM_047430909.1:c.437A>G, XM_047430910.1:c.437A>G, XM_047430911.1:c.323A>G, XM_047430912.1:c.437A>G, XP_005267366.1:p.Glu146Gly, XP_006720082.1:p.Glu146Gly, XP_006720083.1:p.Glu146Gly, XP_011534700.1:p.Glu108Gly, NP_694591.2:p.Glu146Gly, XP_011534699.1:p.Glu146Gly, XP_011534702.1:p.Glu146Gly, XP_047286865.1:p.Glu146Gly, XP_047286866.1:p.Glu146Gly, XP_047286867.1:p.Glu108Gly, XP_047286868.1:p.Glu146Gly

              7.

              rs1485866336 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                14:104042163 (GRCh38)
                14:104508500 (GRCh37)
                Canonical SPDI:
                NC_000014.9:104042162:A:C
                Gene:
                TDRD9 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0./0 (GnomAD)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.104042163A>C, NC_000014.8:g.104508500A>C, XM_005267309.5:c.3794A>C, XM_005267309.4:c.3794A>C, XM_005267309.3:c.3794A>C, XM_005267309.2:c.3794A>C, XM_005267309.1:c.3794A>C, XM_006720019.4:c.3950A>C, XM_006720019.3:c.3950A>C, XM_006720019.2:c.3950A>C, XM_006720019.1:c.3950A>C, XM_006720020.4:c.3869A>C, XM_006720020.3:c.3869A>C, XM_006720020.2:c.3869A>C, XM_006720020.1:c.3869A>C, XM_011536398.4:c.3836A>C, XM_011536398.3:c.3836A>C, XM_011536398.2:c.3836A>C, XM_011536398.1:c.3836A>C, NM_153046.3:c.3950A>C, NM_153046.2:c.3950A>C, XM_011536397.3:c.3845A>C, XM_011536397.2:c.3845A>C, XM_011536397.1:c.3845A>C, XM_011536400.3:c.3689A>C, XM_011536400.2:c.3689A>C, XM_011536400.1:c.3689A>C, XM_011536402.3:c.2864A>C, XM_011536402.2:c.2864A>C, XM_011536402.1:c.2864A>C, XM_047430909.1:c.3713A>C, XM_047430910.1:c.3689A>C, XM_047430911.1:c.3680A>C, XM_047430912.1:c.3608A>C, XP_005267366.1:p.Asp1265Ala, XP_006720082.1:p.Asp1317Ala, XP_006720083.1:p.Asp1290Ala, XP_011534700.1:p.Asp1279Ala, NP_694591.2:p.Asp1317Ala, XP_011534699.1:p.Asp1282Ala, XP_011534702.1:p.Asp1230Ala, XP_011534704.1:p.Asp955Ala, XP_047286865.1:p.Asp1238Ala, XP_047286866.1:p.Asp1230Ala, XP_047286867.1:p.Asp1227Ala, XP_047286868.1:p.Asp1203Ala

                8.

                rs1485111561 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:103986253 (GRCh38)
                  14:104452590 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:103986252:A:G
                  Gene:
                  TDRD9 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000111/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.103986253A>G, NC_000014.8:g.104452590A>G, XM_005267309.5:c.1048A>G, XM_005267309.4:c.1048A>G, XM_005267309.3:c.1048A>G, XM_005267309.2:c.1048A>G, XM_005267309.1:c.1048A>G, XM_006720019.4:c.1048A>G, XM_006720019.3:c.1048A>G, XM_006720019.2:c.1048A>G, XM_006720019.1:c.1048A>G, XM_006720020.4:c.967A>G, XM_006720020.3:c.967A>G, XM_006720020.2:c.967A>G, XM_006720020.1:c.967A>G, XM_011536398.4:c.934A>G, XM_011536398.3:c.934A>G, XM_011536398.2:c.934A>G, XM_011536398.1:c.934A>G, NM_153046.3:c.1048A>G, NM_153046.2:c.1048A>G, XM_011536397.3:c.1048A>G, XM_011536397.2:c.1048A>G, XM_011536397.1:c.1048A>G, XM_011536400.3:c.1048A>G, XM_011536400.2:c.1048A>G, XM_011536400.1:c.1048A>G, XM_047430909.1:c.967A>G, XM_047430910.1:c.1048A>G, XM_047430911.1:c.934A>G, XM_047430912.1:c.967A>G, XP_005267366.1:p.Lys350Glu, XP_006720082.1:p.Lys350Glu, XP_006720083.1:p.Lys323Glu, XP_011534700.1:p.Lys312Glu, NP_694591.2:p.Lys350Glu, XP_011534699.1:p.Lys350Glu, XP_011534702.1:p.Lys350Glu, XP_047286865.1:p.Lys323Glu, XP_047286866.1:p.Lys350Glu, XP_047286867.1:p.Lys312Glu, XP_047286868.1:p.Lys323Glu

                  9.

                  rs1485061390 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:103965523 (GRCh38)
                    14:104431860 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:103965522:C:T
                    Gene:
                    TDRD9 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.103965523C>T, NC_000014.8:g.104431860C>T, XM_005267309.5:c.611C>T, XM_005267309.4:c.611C>T, XM_005267309.3:c.611C>T, XM_005267309.2:c.611C>T, XM_005267309.1:c.611C>T, XM_006720019.4:c.611C>T, XM_006720019.3:c.611C>T, XM_006720019.2:c.611C>T, XM_006720019.1:c.611C>T, XM_006720020.4:c.611C>T, XM_006720020.3:c.611C>T, XM_006720020.2:c.611C>T, XM_006720020.1:c.611C>T, XM_011536398.4:c.497C>T, XM_011536398.3:c.497C>T, XM_011536398.2:c.497C>T, XM_011536398.1:c.497C>T, NM_153046.3:c.611C>T, NM_153046.2:c.611C>T, XM_011536397.3:c.611C>T, XM_011536397.2:c.611C>T, XM_011536397.1:c.611C>T, XM_011536400.3:c.611C>T, XM_011536400.2:c.611C>T, XM_011536400.1:c.611C>T, XM_047430909.1:c.611C>T, XM_047430910.1:c.611C>T, XM_047430911.1:c.497C>T, XM_047430912.1:c.611C>T, XP_005267366.1:p.Ala204Val, XP_006720082.1:p.Ala204Val, XP_006720083.1:p.Ala204Val, XP_011534700.1:p.Ala166Val, NP_694591.2:p.Ala204Val, XP_011534699.1:p.Ala204Val, XP_011534702.1:p.Ala204Val, XP_047286865.1:p.Ala204Val, XP_047286866.1:p.Ala204Val, XP_047286867.1:p.Ala166Val, XP_047286868.1:p.Ala204Val

                    10.

                    rs1484639218 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:103975472 (GRCh38)
                      14:104441809 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:103975471:A:G
                      Gene:
                      TDRD9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000043/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000014.9:g.103975472A>G, NC_000014.8:g.104441809A>G, XM_005267309.5:c.930A>G, XM_005267309.4:c.930A>G, XM_005267309.3:c.930A>G, XM_005267309.2:c.930A>G, XM_005267309.1:c.930A>G, XM_006720019.4:c.930A>G, XM_006720019.3:c.930A>G, XM_006720019.2:c.930A>G, XM_006720019.1:c.930A>G, XM_006720020.4:c.849A>G, XM_006720020.3:c.849A>G, XM_006720020.2:c.849A>G, XM_006720020.1:c.849A>G, XM_011536398.4:c.816A>G, XM_011536398.3:c.816A>G, XM_011536398.2:c.816A>G, XM_011536398.1:c.816A>G, NM_153046.3:c.930A>G, NM_153046.2:c.930A>G, XM_011536397.3:c.930A>G, XM_011536397.2:c.930A>G, XM_011536397.1:c.930A>G, XM_011536400.3:c.930A>G, XM_011536400.2:c.930A>G, XM_011536400.1:c.930A>G, XM_011536402.3:c.-53A>G, XM_011536402.2:c.-53A>G, XM_011536402.1:c.-53A>G, XM_047430909.1:c.849A>G, XM_047430910.1:c.930A>G, XM_047430911.1:c.816A>G, XM_047430912.1:c.849A>G

                      11.

                      rs1484586056 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:103963160 (GRCh38)
                        14:104429497 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:103963159:G:A
                        Gene:
                        TDRD9 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        A=0.000032/5 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.103963160G>A, NC_000014.8:g.104429497G>A, XM_005267309.5:c.404G>A, XM_005267309.4:c.404G>A, XM_005267309.3:c.404G>A, XM_005267309.2:c.404G>A, XM_005267309.1:c.404G>A, XM_006720019.4:c.404G>A, XM_006720019.3:c.404G>A, XM_006720019.2:c.404G>A, XM_006720019.1:c.404G>A, XM_006720020.4:c.404G>A, XM_006720020.3:c.404G>A, XM_006720020.2:c.404G>A, XM_006720020.1:c.404G>A, XM_011536398.4:c.290G>A, XM_011536398.3:c.290G>A, XM_011536398.2:c.290G>A, XM_011536398.1:c.290G>A, NM_153046.3:c.404G>A, NM_153046.2:c.404G>A, XM_011536397.3:c.404G>A, XM_011536397.2:c.404G>A, XM_011536397.1:c.404G>A, XM_011536400.3:c.404G>A, XM_011536400.2:c.404G>A, XM_011536400.1:c.404G>A, XM_047430909.1:c.404G>A, XM_047430910.1:c.404G>A, XM_047430911.1:c.290G>A, XM_047430912.1:c.404G>A, XP_005267366.1:p.Ser135Asn, XP_006720082.1:p.Ser135Asn, XP_006720083.1:p.Ser135Asn, XP_011534700.1:p.Ser97Asn, NP_694591.2:p.Ser135Asn, XP_011534699.1:p.Ser135Asn, XP_011534702.1:p.Ser135Asn, XP_047286865.1:p.Ser135Asn, XP_047286866.1:p.Ser135Asn, XP_047286867.1:p.Ser97Asn, XP_047286868.1:p.Ser135Asn

                        12.

                        rs1483472265 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:104026135 (GRCh38)
                          14:104492472 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:104026134:A:G
                          Gene:
                          TDRD9 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.104026135A>G, NC_000014.8:g.104492472A>G, XM_005267309.5:c.3020A>G, XM_005267309.4:c.3020A>G, XM_005267309.3:c.3020A>G, XM_005267309.2:c.3020A>G, XM_005267309.1:c.3020A>G, XM_006720019.4:c.3020A>G, XM_006720019.3:c.3020A>G, XM_006720019.2:c.3020A>G, XM_006720019.1:c.3020A>G, XM_006720020.4:c.2939A>G, XM_006720020.3:c.2939A>G, XM_006720020.2:c.2939A>G, XM_006720020.1:c.2939A>G, XM_011536398.4:c.2906A>G, XM_011536398.3:c.2906A>G, XM_011536398.2:c.2906A>G, XM_011536398.1:c.2906A>G, NM_153046.3:c.3020A>G, NM_153046.2:c.3020A>G, XM_011536397.3:c.2915A>G, XM_011536397.2:c.2915A>G, XM_011536397.1:c.2915A>G, XM_011536400.3:c.2759A>G, XM_011536400.2:c.2759A>G, XM_011536400.1:c.2759A>G, XM_011536402.3:c.1934A>G, XM_011536402.2:c.1934A>G, XM_011536402.1:c.1934A>G, XM_047430909.1:c.2939A>G, XM_047430910.1:c.2915A>G, XM_047430911.1:c.2906A>G, XM_047430912.1:c.2834A>G, XP_005267366.1:p.Gln1007Arg, XP_006720082.1:p.Gln1007Arg, XP_006720083.1:p.Gln980Arg, XP_011534700.1:p.Gln969Arg, NP_694591.2:p.Gln1007Arg, XP_011534699.1:p.Gln972Arg, XP_011534702.1:p.Gln920Arg, XP_011534704.1:p.Gln645Arg, XP_047286865.1:p.Gln980Arg, XP_047286866.1:p.Gln972Arg, XP_047286867.1:p.Gln969Arg, XP_047286868.1:p.Gln945Arg

                          13.

                          rs1481860254 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            14:104040260 (GRCh38)
                            14:104506597 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:104040259:GGGG:GGG
                            Gene:
                            TDRD9 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGG=0./0 (ALFA)
                            -=0.000025/4 (GnomAD_exomes)
                            -=0.00005/7 (GnomAD)
                            -=0.000064/17 (TOPMED)
                            HGVS:
                            NC_000014.9:g.104040263del, NC_000014.8:g.104506600del, XM_005267309.5:c.3628del, XM_005267309.4:c.3628del, XM_005267309.3:c.3628del, XM_005267309.2:c.3628del, XM_005267309.1:c.3628del, XM_006720019.4:c.3784del, XM_006720019.3:c.3784del, XM_006720019.2:c.3784del, XM_006720019.1:c.3784del, XM_006720020.4:c.3703del, XM_006720020.3:c.3703del, XM_006720020.2:c.3703del, XM_006720020.1:c.3703del, XM_011536398.4:c.3670del, XM_011536398.3:c.3670del, XM_011536398.2:c.3670del, XM_011536398.1:c.3670del, NM_153046.3:c.3784del, NM_153046.2:c.3784del, XM_011536397.3:c.3679del, XM_011536397.2:c.3679del, XM_011536397.1:c.3679del, XM_011536400.3:c.3523del, XM_011536400.2:c.3523del, XM_011536400.1:c.3523del, XM_011536402.3:c.2698del, XM_011536402.2:c.2698del, XM_011536402.1:c.2698del, XM_047430909.1:c.3547del, XM_047430910.1:c.3523del, XM_047430911.1:c.3514del, XM_047430912.1:c.3442del, XP_005267366.1:p.Ala1210fs, XP_006720082.1:p.Ala1262fs, XP_006720083.1:p.Ala1235fs, XP_011534700.1:p.Ala1224fs, NP_694591.2:p.Ala1262fs, XP_011534699.1:p.Ala1227fs, XP_011534702.1:p.Ala1175fs, XP_011534704.1:p.Ala900fs, XP_047286865.1:p.Ala1183fs, XP_047286866.1:p.Ala1175fs, XP_047286867.1:p.Ala1172fs, XP_047286868.1:p.Ala1148fs

                            14.

                            rs1481807529 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              14:104026923 (GRCh38)
                              14:104493260 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:104026922:A:C
                              Gene:
                              TDRD9 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.104026923A>C, NC_000014.8:g.104493260A>C, XM_005267309.5:c.3266A>C, XM_005267309.4:c.3266A>C, XM_005267309.3:c.3266A>C, XM_005267309.2:c.3266A>C, XM_005267309.1:c.3266A>C, XM_006720019.4:c.3266A>C, XM_006720019.3:c.3266A>C, XM_006720019.2:c.3266A>C, XM_006720019.1:c.3266A>C, XM_006720020.4:c.3185A>C, XM_006720020.3:c.3185A>C, XM_006720020.2:c.3185A>C, XM_006720020.1:c.3185A>C, XM_011536398.4:c.3152A>C, XM_011536398.3:c.3152A>C, XM_011536398.2:c.3152A>C, XM_011536398.1:c.3152A>C, NM_153046.3:c.3266A>C, NM_153046.2:c.3266A>C, XM_011536397.3:c.3161A>C, XM_011536397.2:c.3161A>C, XM_011536397.1:c.3161A>C, XM_011536400.3:c.3005A>C, XM_011536400.2:c.3005A>C, XM_011536400.1:c.3005A>C, XM_011536402.3:c.2180A>C, XM_011536402.2:c.2180A>C, XM_011536402.1:c.2180A>C, XM_047430909.1:c.3185A>C, XM_047430910.1:c.3161A>C, XM_047430911.1:c.3152A>C, XM_047430912.1:c.3080A>C, XP_005267366.1:p.Glu1089Ala, XP_006720082.1:p.Glu1089Ala, XP_006720083.1:p.Glu1062Ala, XP_011534700.1:p.Glu1051Ala, NP_694591.2:p.Glu1089Ala, XP_011534699.1:p.Glu1054Ala, XP_011534702.1:p.Glu1002Ala, XP_011534704.1:p.Glu727Ala, XP_047286865.1:p.Glu1062Ala, XP_047286866.1:p.Glu1054Ala, XP_047286867.1:p.Glu1051Ala, XP_047286868.1:p.Glu1027Ala

                              15.

                              rs1481083804 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                14:104052037 (GRCh38)
                                14:104518374 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:104052036:C:T
                                Gene:
                                TDRD9 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000014.9:g.104052037C>T, NC_000014.8:g.104518374C>T, XM_005267309.5:c.3948C>T, XM_005267309.4:c.3948C>T, XM_005267309.3:c.3948C>T, XM_005267309.2:c.3948C>T, XM_005267309.1:c.3948C>T, XM_006720019.4:c.*85C>T, XM_006720019.3:c.*85C>T, XM_006720019.2:c.*85C>T, XM_006720019.1:c.*85C>T, XM_006720020.4:c.4023C>T, XM_006720020.3:c.4023C>T, XM_006720020.2:c.4023C>T, XM_006720020.1:c.4023C>T, XM_011536398.4:c.3990C>T, XM_011536398.3:c.3990C>T, XM_011536398.2:c.3990C>T, XM_011536398.1:c.3990C>T, NM_153046.3:c.4104C>T, NM_153046.2:c.4104C>T, XM_011536397.3:c.3999C>T, XM_011536397.2:c.3999C>T, XM_011536397.1:c.3999C>T, XM_011536400.3:c.3843C>T, XM_011536400.2:c.3843C>T, XM_011536400.1:c.3843C>T, XM_011536402.3:c.3018C>T, XM_011536402.2:c.3018C>T, XM_011536402.1:c.3018C>T, XM_047430909.1:c.3867C>T, XM_047430910.1:c.3843C>T, XM_047430911.1:c.3834C>T, XM_047430912.1:c.3762C>T

                                16.

                                rs1480204977 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:104008453 (GRCh38)
                                  14:104474790 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:104008452:A:G
                                  Gene:
                                  TDRD9 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000014.9:g.104008453A>G, NC_000014.8:g.104474790A>G, XM_005267309.5:c.2093A>G, XM_005267309.4:c.2093A>G, XM_005267309.3:c.2093A>G, XM_005267309.2:c.2093A>G, XM_005267309.1:c.2093A>G, XM_006720019.4:c.2093A>G, XM_006720019.3:c.2093A>G, XM_006720019.2:c.2093A>G, XM_006720019.1:c.2093A>G, XM_006720020.4:c.2012A>G, XM_006720020.3:c.2012A>G, XM_006720020.2:c.2012A>G, XM_006720020.1:c.2012A>G, XM_011536398.4:c.1979A>G, XM_011536398.3:c.1979A>G, XM_011536398.2:c.1979A>G, XM_011536398.1:c.1979A>G, NM_153046.3:c.2093A>G, NM_153046.2:c.2093A>G, XM_011536397.3:c.1988A>G, XM_011536397.2:c.1988A>G, XM_011536397.1:c.1988A>G, XM_011536400.3:c.1832A>G, XM_011536400.2:c.1832A>G, XM_011536400.1:c.1832A>G, XM_011536402.3:c.1007A>G, XM_011536402.2:c.1007A>G, XM_011536402.1:c.1007A>G, XM_047430909.1:c.2012A>G, XM_047430910.1:c.1988A>G, XM_047430911.1:c.1979A>G, XM_047430912.1:c.1907A>G, XP_005267366.1:p.Lys698Arg, XP_006720082.1:p.Lys698Arg, XP_006720083.1:p.Lys671Arg, XP_011534700.1:p.Lys660Arg, NP_694591.2:p.Lys698Arg, XP_011534699.1:p.Lys663Arg, XP_011534702.1:p.Lys611Arg, XP_011534704.1:p.Lys336Arg, XP_047286865.1:p.Lys671Arg, XP_047286866.1:p.Lys663Arg, XP_047286867.1:p.Lys660Arg, XP_047286868.1:p.Lys636Arg

                                  17.

                                  rs1479933054 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:104014825 (GRCh38)
                                    14:104481162 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:104014824:A:G
                                    Gene:
                                    TDRD9 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000014.9:g.104014825A>G, NC_000014.8:g.104481162A>G, XM_005267309.5:c.2207A>G, XM_005267309.4:c.2207A>G, XM_005267309.3:c.2207A>G, XM_005267309.2:c.2207A>G, XM_005267309.1:c.2207A>G, XM_006720019.4:c.2207A>G, XM_006720019.3:c.2207A>G, XM_006720019.2:c.2207A>G, XM_006720019.1:c.2207A>G, XM_006720020.4:c.2126A>G, XM_006720020.3:c.2126A>G, XM_006720020.2:c.2126A>G, XM_006720020.1:c.2126A>G, XM_011536398.4:c.2093A>G, XM_011536398.3:c.2093A>G, XM_011536398.2:c.2093A>G, XM_011536398.1:c.2093A>G, NM_153046.3:c.2207A>G, NM_153046.2:c.2207A>G, XM_011536397.3:c.2102A>G, XM_011536397.2:c.2102A>G, XM_011536397.1:c.2102A>G, XM_011536400.3:c.1946A>G, XM_011536400.2:c.1946A>G, XM_011536400.1:c.1946A>G, XM_011536402.3:c.1121A>G, XM_011536402.2:c.1121A>G, XM_011536402.1:c.1121A>G, XM_047430909.1:c.2126A>G, XM_047430910.1:c.2102A>G, XM_047430911.1:c.2093A>G, XM_047430912.1:c.2021A>G, XP_005267366.1:p.Gln736Arg, XP_006720082.1:p.Gln736Arg, XP_006720083.1:p.Gln709Arg, XP_011534700.1:p.Gln698Arg, NP_694591.2:p.Gln736Arg, XP_011534699.1:p.Gln701Arg, XP_011534702.1:p.Gln649Arg, XP_011534704.1:p.Gln374Arg, XP_047286865.1:p.Gln709Arg, XP_047286866.1:p.Gln701Arg, XP_047286867.1:p.Gln698Arg, XP_047286868.1:p.Gln674Arg

                                    18.

                                    rs1479895964 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      14:104052064 (GRCh38)
                                      14:104518401 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:104052063:G:C
                                      Gene:
                                      TDRD9 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.00001/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.104052064G>C, NC_000014.8:g.104518401G>C, XM_005267309.5:c.3975G>C, XM_005267309.4:c.3975G>C, XM_005267309.3:c.3975G>C, XM_005267309.2:c.3975G>C, XM_005267309.1:c.3975G>C, XM_006720019.4:c.*112G>C, XM_006720019.3:c.*112G>C, XM_006720019.2:c.*112G>C, XM_006720019.1:c.*112G>C, XM_006720020.4:c.4050G>C, XM_006720020.3:c.4050G>C, XM_006720020.2:c.4050G>C, XM_006720020.1:c.4050G>C, XM_011536398.4:c.4017G>C, XM_011536398.3:c.4017G>C, XM_011536398.2:c.4017G>C, XM_011536398.1:c.4017G>C, NM_153046.3:c.4131G>C, NM_153046.2:c.4131G>C, XM_011536397.3:c.4026G>C, XM_011536397.2:c.4026G>C, XM_011536397.1:c.4026G>C, XM_011536400.3:c.3870G>C, XM_011536400.2:c.3870G>C, XM_011536400.1:c.3870G>C, XM_011536402.3:c.3045G>C, XM_011536402.2:c.3045G>C, XM_011536402.1:c.3045G>C, XM_047430909.1:c.3894G>C, XM_047430910.1:c.3870G>C, XM_047430911.1:c.3861G>C, XM_047430912.1:c.3789G>C

                                      19.

                                      rs1479593910 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:103970588 (GRCh38)
                                        14:104436925 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:103970587:C:T
                                        Gene:
                                        TDRD9 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000212/4 (TOMMO)
                                        T=0.000546/1 (Korea1K)
                                        T=0.000684/2 (KOREAN)
                                        HGVS:

                                        20.

                                        rs1478994248 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          14:104025689 (GRCh38)
                                          14:104492026 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:104025688:C:G
                                          Gene:
                                          TDRD9 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000014.9:g.104025689C>G, NC_000014.8:g.104492026C>G, XM_005267309.5:c.2844C>G, XM_005267309.4:c.2844C>G, XM_005267309.3:c.2844C>G, XM_005267309.2:c.2844C>G, XM_005267309.1:c.2844C>G, XM_006720019.4:c.2844C>G, XM_006720019.3:c.2844C>G, XM_006720019.2:c.2844C>G, XM_006720019.1:c.2844C>G, XM_006720020.4:c.2763C>G, XM_006720020.3:c.2763C>G, XM_006720020.2:c.2763C>G, XM_006720020.1:c.2763C>G, XM_011536398.4:c.2730C>G, XM_011536398.3:c.2730C>G, XM_011536398.2:c.2730C>G, XM_011536398.1:c.2730C>G, NM_153046.3:c.2844C>G, NM_153046.2:c.2844C>G, XM_011536397.3:c.2739C>G, XM_011536397.2:c.2739C>G, XM_011536397.1:c.2739C>G, XM_011536400.3:c.2583C>G, XM_011536400.2:c.2583C>G, XM_011536400.1:c.2583C>G, XM_011536402.3:c.1758C>G, XM_011536402.2:c.1758C>G, XM_011536402.1:c.1758C>G, XM_047430909.1:c.2763C>G, XM_047430910.1:c.2739C>G, XM_047430911.1:c.2730C>G, XM_047430912.1:c.2658C>G, XP_005267366.1:p.Asp948Glu, XP_006720082.1:p.Asp948Glu, XP_006720083.1:p.Asp921Glu, XP_011534700.1:p.Asp910Glu, NP_694591.2:p.Asp948Glu, XP_011534699.1:p.Asp913Glu, XP_011534702.1:p.Asp861Glu, XP_011534704.1:p.Asp586Glu, XP_047286865.1:p.Asp921Glu, XP_047286866.1:p.Asp913Glu, XP_047286867.1:p.Asp910Glu, XP_047286868.1:p.Asp886Glu

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