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Items: 1 to 20 of 1000

1.

rs1490931132 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    10:114227206 (GRCh38)
    10:115986965 (GRCh37)
    Canonical SPDI:
    NC_000010.11:114227205:T:G
    Gene:
    TDRD1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_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_000010.11:g.114227206T>G, NC_000010.10:g.115986965T>G, XM_011539959.3:c.3310T>G, XM_011539959.2:c.3310T>G, XM_011539959.1:c.3310T>G, XM_011539960.3:c.3310T>G, XM_011539960.2:c.3310T>G, XM_011539960.1:c.3310T>G, XM_011539961.3:c.3310T>G, XM_011539961.2:c.3310T>G, XM_011539961.1:c.3310T>G, XM_017016414.3:c.3166T>G, XM_017016414.2:c.3166T>G, XM_017016414.1:c.3166T>G, XM_011539964.3:c.3139T>G, XM_011539964.2:c.3139T>G, XM_011539964.1:c.3139T>G, NM_198795.2:c.3310T>G, NM_198795.1:c.3310T>G, NM_001385364.2:c.3310T>G, NM_001385364.1:c.3310T>G, NM_001365891.2:c.3298T>G, NM_001365891.1:c.3298T>G, XM_011539962.2:c.3310T>G, XM_011539962.1:c.3310T>G, NM_001395205.1:c.3310T>G, NM_001385366.1:c.3139T>G, NM_001385370.1:c.2968T>G, NM_001385363.1:c.3310T>G, NM_001385365.1:c.3310T>G, XM_047425486.1:c.3139T>G, XM_047425487.1:c.2995T>G, NM_031278.1:c.2101T>G, XP_011538261.1:p.Ser1104Ala, XP_011538262.1:p.Ser1104Ala, XP_011538263.1:p.Ser1104Ala, XP_016871903.1:p.Ser1056Ala, XP_011538266.1:p.Ser1047Ala, NP_942090.1:p.Ser1104Ala, NP_001372293.1:p.Ser1104Ala, NP_001352820.1:p.Ser1100Ala, XP_011538264.1:p.Ser1104Ala, NP_001382134.1:p.Ser1104Ala, NP_001372295.1:p.Ser1047Ala, NP_001372299.1:p.Ser990Ala, NP_001372292.1:p.Ser1104Ala, NP_001372294.1:p.Ser1104Ala, XP_047281442.1:p.Ser1047Ala, XP_047281443.1:p.Ser999Ala

    2.

    rs1489939517 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:114211942 (GRCh38)
      10:115971701 (GRCh37)
      Canonical SPDI:
      NC_000010.11:114211941:T:C
      Gene:
      TDRD1 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000010.11:g.114211942T>C, NC_000010.10:g.115971701T>C, XM_011539959.3:c.1737T>C, XM_011539959.2:c.1737T>C, XM_011539959.1:c.1737T>C, XM_011539960.3:c.1737T>C, XM_011539960.2:c.1737T>C, XM_011539960.1:c.1737T>C, XM_011539961.3:c.1737T>C, XM_011539961.2:c.1737T>C, XM_011539961.1:c.1737T>C, XM_017016414.3:c.1593T>C, XM_017016414.2:c.1593T>C, XM_017016414.1:c.1593T>C, NM_198795.2:c.1737T>C, NM_198795.1:c.1737T>C, NM_001385364.2:c.1737T>C, NM_001385364.1:c.1737T>C, NM_001365891.2:c.1737T>C, NM_001365891.1:c.1737T>C, XM_011539962.2:c.1737T>C, XM_011539962.1:c.1737T>C, NM_001395205.1:c.1737T>C, NM_001385369.1:c.1737T>C, NM_001385371.1:c.1593T>C, NM_001385363.1:c.1737T>C, NM_001385365.1:c.1737T>C, NM_001385368.1:c.1737T>C, NM_001385367.1:c.1737T>C, NM_001385372.1:c.1737T>C, XM_047425488.1:c.1593T>C, NM_031278.1:c.528T>C

      3.

      rs1489870046 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:114199314 (GRCh38)
        10:115959073 (GRCh37)
        Canonical SPDI:
        NC_000010.11:114199313:T:C
        Gene:
        TDRD1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.114199314T>C, NC_000010.10:g.115959073T>C, XM_011539959.3:c.526T>C, XM_011539959.2:c.526T>C, XM_011539959.1:c.526T>C, XM_011539960.3:c.526T>C, XM_011539960.2:c.526T>C, XM_011539960.1:c.526T>C, XM_011539961.3:c.526T>C, XM_011539961.2:c.526T>C, XM_011539961.1:c.526T>C, XM_017016414.3:c.526T>C, XM_017016414.2:c.526T>C, XM_017016414.1:c.526T>C, XM_011539964.3:c.526T>C, XM_011539964.2:c.526T>C, XM_011539964.1:c.526T>C, NM_198795.2:c.526T>C, NM_198795.1:c.526T>C, NM_001385364.2:c.526T>C, NM_001385364.1:c.526T>C, NM_001365891.2:c.526T>C, NM_001365891.1:c.526T>C, XM_011539962.2:c.526T>C, XM_011539962.1:c.526T>C, NM_001395205.1:c.526T>C, NM_001385366.1:c.526T>C, NM_001385369.1:c.526T>C, NM_001385370.1:c.526T>C, NM_001385371.1:c.526T>C, NM_001385363.1:c.526T>C, NM_001385365.1:c.526T>C, XM_047425486.1:c.526T>C, NM_001385368.1:c.526T>C, NM_001385367.1:c.526T>C, XM_047425487.1:c.526T>C, NM_001385372.1:c.526T>C, XM_047425488.1:c.526T>C, XM_047425489.1:c.526T>C, XM_047425490.1:c.526T>C, XM_047425491.1:c.526T>C, XM_047425492.1:c.526T>C, XP_011538261.1:p.Phe176Leu, XP_011538262.1:p.Phe176Leu, XP_011538263.1:p.Phe176Leu, XP_016871903.1:p.Phe176Leu, XP_011538266.1:p.Phe176Leu, NP_942090.1:p.Phe176Leu, NP_001372293.1:p.Phe176Leu, NP_001352820.1:p.Phe176Leu, XP_011538264.1:p.Phe176Leu, NP_001382134.1:p.Phe176Leu, NP_001372295.1:p.Phe176Leu, NP_001372298.1:p.Phe176Leu, NP_001372299.1:p.Phe176Leu, NP_001372300.1:p.Phe176Leu, NP_001372292.1:p.Phe176Leu, NP_001372294.1:p.Phe176Leu, XP_047281442.1:p.Phe176Leu, NP_001372297.1:p.Phe176Leu, NP_001372296.1:p.Phe176Leu, XP_047281443.1:p.Phe176Leu, NP_001372301.1:p.Phe176Leu, XP_047281444.1:p.Phe176Leu, XP_047281445.1:p.Phe176Leu, XP_047281446.1:p.Phe176Leu, XP_047281447.1:p.Phe176Leu, XP_047281448.1:p.Phe176Leu

        4.

        rs1488819973 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          10:114204807 (GRCh38)
          10:115964566 (GRCh37)
          Canonical SPDI:
          NC_000010.11:114204806:T:C,NC_000010.11:114204806:T:G
          Gene:
          TDRD1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.114204807T>C, NC_000010.11:g.114204807T>G, NC_000010.10:g.115964566T>C, NC_000010.10:g.115964566T>G, XM_011539959.3:c.1211T>C, XM_011539959.3:c.1211T>G, XM_011539959.2:c.1211T>C, XM_011539959.2:c.1211T>G, XM_011539959.1:c.1211T>C, XM_011539959.1:c.1211T>G, XM_011539960.3:c.1211T>C, XM_011539960.3:c.1211T>G, XM_011539960.2:c.1211T>C, XM_011539960.2:c.1211T>G, XM_011539960.1:c.1211T>C, XM_011539960.1:c.1211T>G, XM_011539961.3:c.1211T>C, XM_011539961.3:c.1211T>G, XM_011539961.2:c.1211T>C, XM_011539961.2:c.1211T>G, XM_011539961.1:c.1211T>C, XM_011539961.1:c.1211T>G, XM_017016414.3:c.1067T>C, XM_017016414.3:c.1067T>G, XM_017016414.2:c.1067T>C, XM_017016414.2:c.1067T>G, XM_017016414.1:c.1067T>C, XM_017016414.1:c.1067T>G, XM_011539964.3:c.1211T>C, XM_011539964.3:c.1211T>G, XM_011539964.2:c.1211T>C, XM_011539964.2:c.1211T>G, XM_011539964.1:c.1211T>C, XM_011539964.1:c.1211T>G, NM_198795.2:c.1211T>C, NM_198795.2:c.1211T>G, NM_198795.1:c.1211T>C, NM_198795.1:c.1211T>G, NM_001385364.2:c.1211T>C, NM_001385364.2:c.1211T>G, NM_001385364.1:c.1211T>C, NM_001385364.1:c.1211T>G, NM_001365891.2:c.1211T>C, NM_001365891.2:c.1211T>G, NM_001365891.1:c.1211T>C, NM_001365891.1:c.1211T>G, XM_011539962.2:c.1211T>C, XM_011539962.2:c.1211T>G, XM_011539962.1:c.1211T>C, XM_011539962.1:c.1211T>G, NM_001395205.1:c.1211T>C, NM_001395205.1:c.1211T>G, NM_001385366.1:c.1211T>C, NM_001385366.1:c.1211T>G, NM_001385369.1:c.1211T>C, NM_001385369.1:c.1211T>G, NM_001385370.1:c.1211T>C, NM_001385370.1:c.1211T>G, NM_001385371.1:c.1067T>C, NM_001385371.1:c.1067T>G, NM_001385363.1:c.1211T>C, NM_001385363.1:c.1211T>G, NM_001385365.1:c.1211T>C, NM_001385365.1:c.1211T>G, XM_047425486.1:c.1211T>C, XM_047425486.1:c.1211T>G, NM_001385368.1:c.1211T>C, NM_001385368.1:c.1211T>G, NM_001385367.1:c.1211T>C, NM_001385367.1:c.1211T>G, XM_047425487.1:c.1067T>C, XM_047425487.1:c.1067T>G, NM_001385372.1:c.1211T>C, NM_001385372.1:c.1211T>G, XM_047425488.1:c.1067T>C, XM_047425488.1:c.1067T>G, XM_047425489.1:c.1211T>C, XM_047425489.1:c.1211T>G, XM_047425490.1:c.1211T>C, XM_047425490.1:c.1211T>G, XM_047425491.1:c.1067T>C, XM_047425491.1:c.1067T>G, XM_047425492.1:c.1067T>C, XM_047425492.1:c.1067T>G, NM_031278.1:c.2T>C, NM_031278.1:c.2T>G, XP_011538261.1:p.Met404Thr, XP_011538261.1:p.Met404Arg, XP_011538262.1:p.Met404Thr, XP_011538262.1:p.Met404Arg, XP_011538263.1:p.Met404Thr, XP_011538263.1:p.Met404Arg, XP_016871903.1:p.Met356Thr, XP_016871903.1:p.Met356Arg, XP_011538266.1:p.Met404Thr, XP_011538266.1:p.Met404Arg, NP_942090.1:p.Met404Thr, NP_942090.1:p.Met404Arg, NP_001372293.1:p.Met404Thr, NP_001372293.1:p.Met404Arg, NP_001352820.1:p.Met404Thr, NP_001352820.1:p.Met404Arg, XP_011538264.1:p.Met404Thr, XP_011538264.1:p.Met404Arg, NP_001382134.1:p.Met404Thr, NP_001382134.1:p.Met404Arg, NP_001372295.1:p.Met404Thr, NP_001372295.1:p.Met404Arg, NP_001372298.1:p.Met404Thr, NP_001372298.1:p.Met404Arg, NP_001372299.1:p.Met404Thr, NP_001372299.1:p.Met404Arg, NP_001372300.1:p.Met356Thr, NP_001372300.1:p.Met356Arg, NP_001372292.1:p.Met404Thr, NP_001372292.1:p.Met404Arg, NP_001372294.1:p.Met404Thr, NP_001372294.1:p.Met404Arg, XP_047281442.1:p.Met404Thr, XP_047281442.1:p.Met404Arg, NP_001372297.1:p.Met404Thr, NP_001372297.1:p.Met404Arg, NP_001372296.1:p.Met404Thr, NP_001372296.1:p.Met404Arg, XP_047281443.1:p.Met356Thr, XP_047281443.1:p.Met356Arg, NP_001372301.1:p.Met404Thr, NP_001372301.1:p.Met404Arg, XP_047281444.1:p.Met356Thr, XP_047281444.1:p.Met356Arg, XP_047281445.1:p.Met404Thr, XP_047281445.1:p.Met404Arg, XP_047281446.1:p.Met404Thr, XP_047281446.1:p.Met404Arg, XP_047281447.1:p.Met356Thr, XP_047281447.1:p.Met356Arg, XP_047281448.1:p.Met356Thr, XP_047281448.1:p.Met356Arg

          5.

          rs1488320121 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:114202287 (GRCh38)
            10:115962046 (GRCh37)
            Canonical SPDI:
            NC_000010.11:114202286:G:A
            Gene:
            TDRD1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            HGVS:
            NC_000010.11:g.114202287G>A, NC_000010.10:g.115962046G>A, XM_011539959.3:c.685G>A, XM_011539959.2:c.685G>A, XM_011539959.1:c.685G>A, XM_011539960.3:c.685G>A, XM_011539960.2:c.685G>A, XM_011539960.1:c.685G>A, XM_011539961.3:c.685G>A, XM_011539961.2:c.685G>A, XM_011539961.1:c.685G>A, XM_017016414.3:c.685G>A, XM_017016414.2:c.685G>A, XM_017016414.1:c.685G>A, XM_011539964.3:c.685G>A, XM_011539964.2:c.685G>A, XM_011539964.1:c.685G>A, NM_198795.2:c.685G>A, NM_198795.1:c.685G>A, NM_001385364.2:c.685G>A, NM_001385364.1:c.685G>A, NM_001365891.2:c.685G>A, NM_001365891.1:c.685G>A, XM_011539962.2:c.685G>A, XM_011539962.1:c.685G>A, NM_001395205.1:c.685G>A, NM_001385366.1:c.685G>A, NM_001385369.1:c.685G>A, NM_001385370.1:c.685G>A, NM_001385371.1:c.685G>A, NM_001385363.1:c.685G>A, NM_001385365.1:c.685G>A, XM_047425486.1:c.685G>A, NM_001385368.1:c.685G>A, NM_001385367.1:c.685G>A, XM_047425487.1:c.685G>A, NM_001385372.1:c.685G>A, XM_047425488.1:c.685G>A, XM_047425489.1:c.685G>A, XM_047425490.1:c.685G>A, XM_047425491.1:c.685G>A, XM_047425492.1:c.685G>A, XP_011538261.1:p.Val229Ile, XP_011538262.1:p.Val229Ile, XP_011538263.1:p.Val229Ile, XP_016871903.1:p.Val229Ile, XP_011538266.1:p.Val229Ile, NP_942090.1:p.Val229Ile, NP_001372293.1:p.Val229Ile, NP_001352820.1:p.Val229Ile, XP_011538264.1:p.Val229Ile, NP_001382134.1:p.Val229Ile, NP_001372295.1:p.Val229Ile, NP_001372298.1:p.Val229Ile, NP_001372299.1:p.Val229Ile, NP_001372300.1:p.Val229Ile, NP_001372292.1:p.Val229Ile, NP_001372294.1:p.Val229Ile, XP_047281442.1:p.Val229Ile, NP_001372297.1:p.Val229Ile, NP_001372296.1:p.Val229Ile, XP_047281443.1:p.Val229Ile, NP_001372301.1:p.Val229Ile, XP_047281444.1:p.Val229Ile, XP_047281445.1:p.Val229Ile, XP_047281446.1:p.Val229Ile, XP_047281447.1:p.Val229Ile, XP_047281448.1:p.Val229Ile

            6.

            rs1487715400 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              10:114210714 (GRCh38)
              10:115970473 (GRCh37)
              Canonical SPDI:
              NC_000010.11:114210713:A:C,NC_000010.11:114210713:A:G
              Gene:
              TDRD1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              G=0.000071/1 (TOMMO)
              HGVS:
              NC_000010.11:g.114210714A>C, NC_000010.11:g.114210714A>G, NC_000010.10:g.115970473A>C, NC_000010.10:g.115970473A>G, XM_011539959.3:c.1518A>C, XM_011539959.3:c.1518A>G, XM_011539959.2:c.1518A>C, XM_011539959.2:c.1518A>G, XM_011539959.1:c.1518A>C, XM_011539959.1:c.1518A>G, XM_011539960.3:c.1518A>C, XM_011539960.3:c.1518A>G, XM_011539960.2:c.1518A>C, XM_011539960.2:c.1518A>G, XM_011539960.1:c.1518A>C, XM_011539960.1:c.1518A>G, XM_011539961.3:c.1518A>C, XM_011539961.3:c.1518A>G, XM_011539961.2:c.1518A>C, XM_011539961.2:c.1518A>G, XM_011539961.1:c.1518A>C, XM_011539961.1:c.1518A>G, XM_017016414.3:c.1374A>C, XM_017016414.3:c.1374A>G, XM_017016414.2:c.1374A>C, XM_017016414.2:c.1374A>G, XM_017016414.1:c.1374A>C, XM_017016414.1:c.1374A>G, XM_011539964.3:c.1518A>C, XM_011539964.3:c.1518A>G, XM_011539964.2:c.1518A>C, XM_011539964.2:c.1518A>G, XM_011539964.1:c.1518A>C, XM_011539964.1:c.1518A>G, NM_198795.2:c.1518A>C, NM_198795.2:c.1518A>G, NM_198795.1:c.1518A>C, NM_198795.1:c.1518A>G, NM_001385364.2:c.1518A>C, NM_001385364.2:c.1518A>G, NM_001385364.1:c.1518A>C, NM_001385364.1:c.1518A>G, NM_001365891.2:c.1518A>C, NM_001365891.2:c.1518A>G, NM_001365891.1:c.1518A>C, NM_001365891.1:c.1518A>G, XM_011539962.2:c.1518A>C, XM_011539962.2:c.1518A>G, XM_011539962.1:c.1518A>C, XM_011539962.1:c.1518A>G, NM_001395205.1:c.1518A>C, NM_001395205.1:c.1518A>G, NM_001385366.1:c.1518A>C, NM_001385366.1:c.1518A>G, NM_001385369.1:c.1518A>C, NM_001385369.1:c.1518A>G, NM_001385370.1:c.1518A>C, NM_001385370.1:c.1518A>G, NM_001385371.1:c.1374A>C, NM_001385371.1:c.1374A>G, NM_001385363.1:c.1518A>C, NM_001385363.1:c.1518A>G, NM_001385365.1:c.1518A>C, NM_001385365.1:c.1518A>G, XM_047425486.1:c.1518A>C, XM_047425486.1:c.1518A>G, NM_001385368.1:c.1518A>C, NM_001385368.1:c.1518A>G, NM_001385367.1:c.1518A>C, NM_001385367.1:c.1518A>G, XM_047425487.1:c.1374A>C, XM_047425487.1:c.1374A>G, NM_001385372.1:c.1518A>C, NM_001385372.1:c.1518A>G, XM_047425488.1:c.1374A>C, XM_047425488.1:c.1374A>G, XM_047425489.1:c.1518A>C, XM_047425489.1:c.1518A>G, XM_047425490.1:c.1518A>C, XM_047425490.1:c.1518A>G, XM_047425491.1:c.1374A>C, XM_047425491.1:c.1374A>G, XM_047425492.1:c.1374A>C, XM_047425492.1:c.1374A>G, NM_031278.1:c.309A>C, NM_031278.1:c.309A>G

              7.

              rs1487070479 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:114203157 (GRCh38)
                10:115962916 (GRCh37)
                Canonical SPDI:
                NC_000010.11:114203156:A:G
                Gene:
                TDRD1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000028/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.114203157A>G, NC_000010.10:g.115962916A>G, XM_011539959.3:c.782A>G, XM_011539959.2:c.782A>G, XM_011539959.1:c.782A>G, XM_011539960.3:c.782A>G, XM_011539960.2:c.782A>G, XM_011539960.1:c.782A>G, XM_011539961.3:c.782A>G, XM_011539961.2:c.782A>G, XM_011539961.1:c.782A>G, XM_017016414.3:c.782A>G, XM_017016414.2:c.782A>G, XM_017016414.1:c.782A>G, XM_011539964.3:c.782A>G, XM_011539964.2:c.782A>G, XM_011539964.1:c.782A>G, NM_198795.2:c.782A>G, NM_198795.1:c.782A>G, NM_001385364.2:c.782A>G, NM_001385364.1:c.782A>G, NM_001365891.2:c.782A>G, NM_001365891.1:c.782A>G, XM_011539962.2:c.782A>G, XM_011539962.1:c.782A>G, NM_001395205.1:c.782A>G, NM_001385366.1:c.782A>G, NM_001385369.1:c.782A>G, NM_001385370.1:c.782A>G, NM_001385371.1:c.782A>G, NM_001385363.1:c.782A>G, NM_001385365.1:c.782A>G, XM_047425486.1:c.782A>G, NM_001385368.1:c.782A>G, NM_001385367.1:c.782A>G, XM_047425487.1:c.782A>G, NM_001385372.1:c.782A>G, XM_047425488.1:c.782A>G, XM_047425489.1:c.782A>G, XM_047425490.1:c.782A>G, XM_047425491.1:c.782A>G, XM_047425492.1:c.782A>G, XP_011538261.1:p.Lys261Arg, XP_011538262.1:p.Lys261Arg, XP_011538263.1:p.Lys261Arg, XP_016871903.1:p.Lys261Arg, XP_011538266.1:p.Lys261Arg, NP_942090.1:p.Lys261Arg, NP_001372293.1:p.Lys261Arg, NP_001352820.1:p.Lys261Arg, XP_011538264.1:p.Lys261Arg, NP_001382134.1:p.Lys261Arg, NP_001372295.1:p.Lys261Arg, NP_001372298.1:p.Lys261Arg, NP_001372299.1:p.Lys261Arg, NP_001372300.1:p.Lys261Arg, NP_001372292.1:p.Lys261Arg, NP_001372294.1:p.Lys261Arg, XP_047281442.1:p.Lys261Arg, NP_001372297.1:p.Lys261Arg, NP_001372296.1:p.Lys261Arg, XP_047281443.1:p.Lys261Arg, NP_001372301.1:p.Lys261Arg, XP_047281444.1:p.Lys261Arg, XP_047281445.1:p.Lys261Arg, XP_047281446.1:p.Lys261Arg, XP_047281447.1:p.Lys261Arg, XP_047281448.1:p.Lys261Arg

                8.

                rs1486291246 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:114201514 (GRCh38)
                  10:115961273 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:114201513:A:G
                  Gene:
                  TDRD1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.114201514A>G, NC_000010.10:g.115961273A>G, XM_011539959.3:c.634A>G, XM_011539959.2:c.634A>G, XM_011539959.1:c.634A>G, XM_011539960.3:c.634A>G, XM_011539960.2:c.634A>G, XM_011539960.1:c.634A>G, XM_011539961.3:c.634A>G, XM_011539961.2:c.634A>G, XM_011539961.1:c.634A>G, XM_017016414.3:c.634A>G, XM_017016414.2:c.634A>G, XM_017016414.1:c.634A>G, XM_011539964.3:c.634A>G, XM_011539964.2:c.634A>G, XM_011539964.1:c.634A>G, NM_198795.2:c.634A>G, NM_198795.1:c.634A>G, NM_001385364.2:c.634A>G, NM_001385364.1:c.634A>G, NM_001365891.2:c.634A>G, NM_001365891.1:c.634A>G, XM_011539962.2:c.634A>G, XM_011539962.1:c.634A>G, NM_001395205.1:c.634A>G, NM_001385366.1:c.634A>G, NM_001385369.1:c.634A>G, NM_001385370.1:c.634A>G, NM_001385371.1:c.634A>G, NM_001385363.1:c.634A>G, NM_001385365.1:c.634A>G, XM_047425486.1:c.634A>G, NM_001385368.1:c.634A>G, NM_001385367.1:c.634A>G, XM_047425487.1:c.634A>G, NM_001385372.1:c.634A>G, XM_047425488.1:c.634A>G, XM_047425489.1:c.634A>G, XM_047425490.1:c.634A>G, XM_047425491.1:c.634A>G, XM_047425492.1:c.634A>G, XP_011538261.1:p.Asn212Asp, XP_011538262.1:p.Asn212Asp, XP_011538263.1:p.Asn212Asp, XP_016871903.1:p.Asn212Asp, XP_011538266.1:p.Asn212Asp, NP_942090.1:p.Asn212Asp, NP_001372293.1:p.Asn212Asp, NP_001352820.1:p.Asn212Asp, XP_011538264.1:p.Asn212Asp, NP_001382134.1:p.Asn212Asp, NP_001372295.1:p.Asn212Asp, NP_001372298.1:p.Asn212Asp, NP_001372299.1:p.Asn212Asp, NP_001372300.1:p.Asn212Asp, NP_001372292.1:p.Asn212Asp, NP_001372294.1:p.Asn212Asp, XP_047281442.1:p.Asn212Asp, NP_001372297.1:p.Asn212Asp, NP_001372296.1:p.Asn212Asp, XP_047281443.1:p.Asn212Asp, NP_001372301.1:p.Asn212Asp, XP_047281444.1:p.Asn212Asp, XP_047281445.1:p.Asn212Asp, XP_047281446.1:p.Asn212Asp, XP_047281447.1:p.Asn212Asp, XP_047281448.1:p.Asn212Asp

                  9.

                  rs1485469238 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:114202275 (GRCh38)
                    10:115962034 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:114202274:A:G
                    Gene:
                    TDRD1 (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_000010.11:g.114202275A>G, NC_000010.10:g.115962034A>G, XM_011539959.3:c.673A>G, XM_011539959.2:c.673A>G, XM_011539959.1:c.673A>G, XM_011539960.3:c.673A>G, XM_011539960.2:c.673A>G, XM_011539960.1:c.673A>G, XM_011539961.3:c.673A>G, XM_011539961.2:c.673A>G, XM_011539961.1:c.673A>G, XM_017016414.3:c.673A>G, XM_017016414.2:c.673A>G, XM_017016414.1:c.673A>G, XM_011539964.3:c.673A>G, XM_011539964.2:c.673A>G, XM_011539964.1:c.673A>G, NM_198795.2:c.673A>G, NM_198795.1:c.673A>G, NM_001385364.2:c.673A>G, NM_001385364.1:c.673A>G, NM_001365891.2:c.673A>G, NM_001365891.1:c.673A>G, XM_011539962.2:c.673A>G, XM_011539962.1:c.673A>G, NM_001395205.1:c.673A>G, NM_001385366.1:c.673A>G, NM_001385369.1:c.673A>G, NM_001385370.1:c.673A>G, NM_001385371.1:c.673A>G, NM_001385363.1:c.673A>G, NM_001385365.1:c.673A>G, XM_047425486.1:c.673A>G, NM_001385368.1:c.673A>G, NM_001385367.1:c.673A>G, XM_047425487.1:c.673A>G, NM_001385372.1:c.673A>G, XM_047425488.1:c.673A>G, XM_047425489.1:c.673A>G, XM_047425490.1:c.673A>G, XM_047425491.1:c.673A>G, XM_047425492.1:c.673A>G, XP_011538261.1:p.Lys225Glu, XP_011538262.1:p.Lys225Glu, XP_011538263.1:p.Lys225Glu, XP_016871903.1:p.Lys225Glu, XP_011538266.1:p.Lys225Glu, NP_942090.1:p.Lys225Glu, NP_001372293.1:p.Lys225Glu, NP_001352820.1:p.Lys225Glu, XP_011538264.1:p.Lys225Glu, NP_001382134.1:p.Lys225Glu, NP_001372295.1:p.Lys225Glu, NP_001372298.1:p.Lys225Glu, NP_001372299.1:p.Lys225Glu, NP_001372300.1:p.Lys225Glu, NP_001372292.1:p.Lys225Glu, NP_001372294.1:p.Lys225Glu, XP_047281442.1:p.Lys225Glu, NP_001372297.1:p.Lys225Glu, NP_001372296.1:p.Lys225Glu, XP_047281443.1:p.Lys225Glu, NP_001372301.1:p.Lys225Glu, XP_047281444.1:p.Lys225Glu, XP_047281445.1:p.Lys225Glu, XP_047281446.1:p.Lys225Glu, XP_047281447.1:p.Lys225Glu, XP_047281448.1:p.Lys225Glu

                    10.

                    rs1484907371 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:114222632 (GRCh38)
                      10:115982391 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:114222631:A:G
                      Gene:
                      TDRD1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000010.11:g.114222632A>G, NC_000010.10:g.115982391A>G, XM_011539959.3:c.2936A>G, XM_011539959.2:c.2936A>G, XM_011539959.1:c.2936A>G, XM_011539960.3:c.2936A>G, XM_011539960.2:c.2936A>G, XM_011539960.1:c.2936A>G, XM_011539961.3:c.2936A>G, XM_011539961.2:c.2936A>G, XM_011539961.1:c.2936A>G, XM_017016414.3:c.2792A>G, XM_017016414.2:c.2792A>G, XM_017016414.1:c.2792A>G, XM_011539964.3:c.2765A>G, XM_011539964.2:c.2765A>G, XM_011539964.1:c.2765A>G, NM_198795.2:c.2936A>G, NM_198795.1:c.2936A>G, NM_001385364.2:c.2936A>G, NM_001385364.1:c.2936A>G, NM_001365891.2:c.2924A>G, NM_001365891.1:c.2924A>G, XM_011539962.2:c.2936A>G, XM_011539962.1:c.2936A>G, NM_001395205.1:c.2936A>G, NM_001385366.1:c.2765A>G, NM_001385369.1:c.2936A>G, NM_001385370.1:c.2594A>G, NM_001385371.1:c.2792A>G, NM_001385363.1:c.2936A>G, NM_001385365.1:c.2936A>G, XM_047425486.1:c.2765A>G, NM_001385368.1:c.2936A>G, NM_001385367.1:c.2936A>G, XM_047425487.1:c.2621A>G, NM_001385372.1:c.2936A>G, XM_047425488.1:c.2792A>G, XM_047425489.1:c.2765A>G, XM_047425490.1:c.2765A>G, XM_047425491.1:c.2621A>G, XM_047425492.1:c.2621A>G, NM_031278.1:c.1727A>G, XP_011538261.1:p.Tyr979Cys, XP_011538262.1:p.Tyr979Cys, XP_011538263.1:p.Tyr979Cys, XP_016871903.1:p.Tyr931Cys, XP_011538266.1:p.Tyr922Cys, NP_942090.1:p.Tyr979Cys, NP_001372293.1:p.Tyr979Cys, NP_001352820.1:p.Tyr975Cys, XP_011538264.1:p.Tyr979Cys, NP_001382134.1:p.Tyr979Cys, NP_001372295.1:p.Tyr922Cys, NP_001372298.1:p.Tyr979Cys, NP_001372299.1:p.Tyr865Cys, NP_001372300.1:p.Tyr931Cys, NP_001372292.1:p.Tyr979Cys, NP_001372294.1:p.Tyr979Cys, XP_047281442.1:p.Tyr922Cys, NP_001372297.1:p.Tyr979Cys, NP_001372296.1:p.Tyr979Cys, XP_047281443.1:p.Tyr874Cys, NP_001372301.1:p.Tyr979Cys, XP_047281444.1:p.Tyr931Cys, XP_047281445.1:p.Tyr922Cys, XP_047281446.1:p.Tyr922Cys, XP_047281447.1:p.Tyr874Cys, XP_047281448.1:p.Tyr874Cys

                      11.

                      rs1484798992 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:114217632 (GRCh38)
                        10:115977391 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:114217631:A:G
                        Gene:
                        TDRD1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000010.11:g.114217632A>G, NC_000010.10:g.115977391A>G, XM_011539959.3:c.2300A>G, XM_011539959.2:c.2300A>G, XM_011539959.1:c.2300A>G, XM_011539960.3:c.2300A>G, XM_011539960.2:c.2300A>G, XM_011539960.1:c.2300A>G, XM_011539961.3:c.2300A>G, XM_011539961.2:c.2300A>G, XM_011539961.1:c.2300A>G, XM_017016414.3:c.2156A>G, XM_017016414.2:c.2156A>G, XM_017016414.1:c.2156A>G, XM_011539964.3:c.2129A>G, XM_011539964.2:c.2129A>G, XM_011539964.1:c.2129A>G, NM_198795.2:c.2300A>G, NM_198795.1:c.2300A>G, NM_001385364.2:c.2300A>G, NM_001385364.1:c.2300A>G, NM_001365891.2:c.2300A>G, NM_001365891.1:c.2300A>G, XM_011539962.2:c.2300A>G, XM_011539962.1:c.2300A>G, NM_001395205.1:c.2300A>G, NM_001385366.1:c.2129A>G, NM_001385369.1:c.2300A>G, NM_001385370.1:c.2129A>G, NM_001385371.1:c.2156A>G, NM_001385363.1:c.2300A>G, NM_001385365.1:c.2300A>G, XM_047425486.1:c.2129A>G, NM_001385368.1:c.2300A>G, NM_001385367.1:c.2300A>G, XM_047425487.1:c.1985A>G, NM_001385372.1:c.2300A>G, XM_047425488.1:c.2156A>G, XM_047425489.1:c.2129A>G, XM_047425490.1:c.2129A>G, XM_047425491.1:c.1985A>G, XM_047425492.1:c.1985A>G, NM_031278.1:c.1091A>G, XP_011538261.1:p.Gln767Arg, XP_011538262.1:p.Gln767Arg, XP_011538263.1:p.Gln767Arg, XP_016871903.1:p.Gln719Arg, XP_011538266.1:p.Gln710Arg, NP_942090.1:p.Gln767Arg, NP_001372293.1:p.Gln767Arg, NP_001352820.1:p.Gln767Arg, XP_011538264.1:p.Gln767Arg, NP_001382134.1:p.Gln767Arg, NP_001372295.1:p.Gln710Arg, NP_001372298.1:p.Gln767Arg, NP_001372299.1:p.Gln710Arg, NP_001372300.1:p.Gln719Arg, NP_001372292.1:p.Gln767Arg, NP_001372294.1:p.Gln767Arg, XP_047281442.1:p.Gln710Arg, NP_001372297.1:p.Gln767Arg, NP_001372296.1:p.Gln767Arg, XP_047281443.1:p.Gln662Arg, NP_001372301.1:p.Gln767Arg, XP_047281444.1:p.Gln719Arg, XP_047281445.1:p.Gln710Arg, XP_047281446.1:p.Gln710Arg, XP_047281447.1:p.Gln662Arg, XP_047281448.1:p.Gln662Arg

                        12.

                        rs1483590284 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:114204888 (GRCh38)
                          10:115964647 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:114204887:A:G
                          Gene:
                          TDRD1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          G=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.114204888A>G, NC_000010.10:g.115964647A>G, XM_011539959.3:c.1292A>G, XM_011539959.2:c.1292A>G, XM_011539959.1:c.1292A>G, XM_011539960.3:c.1292A>G, XM_011539960.2:c.1292A>G, XM_011539960.1:c.1292A>G, XM_011539961.3:c.1292A>G, XM_011539961.2:c.1292A>G, XM_011539961.1:c.1292A>G, XM_017016414.3:c.1148A>G, XM_017016414.2:c.1148A>G, XM_017016414.1:c.1148A>G, XM_011539964.3:c.1292A>G, XM_011539964.2:c.1292A>G, XM_011539964.1:c.1292A>G, NM_198795.2:c.1292A>G, NM_198795.1:c.1292A>G, NM_001385364.2:c.1292A>G, NM_001385364.1:c.1292A>G, NM_001365891.2:c.1292A>G, NM_001365891.1:c.1292A>G, XM_011539962.2:c.1292A>G, XM_011539962.1:c.1292A>G, NM_001395205.1:c.1292A>G, NM_001385366.1:c.1292A>G, NM_001385369.1:c.1292A>G, NM_001385370.1:c.1292A>G, NM_001385371.1:c.1148A>G, NM_001385363.1:c.1292A>G, NM_001385365.1:c.1292A>G, XM_047425486.1:c.1292A>G, NM_001385368.1:c.1292A>G, NM_001385367.1:c.1292A>G, XM_047425487.1:c.1148A>G, NM_001385372.1:c.1292A>G, XM_047425488.1:c.1148A>G, XM_047425489.1:c.1292A>G, XM_047425490.1:c.1292A>G, XM_047425491.1:c.1148A>G, XM_047425492.1:c.1148A>G, NM_031278.1:c.83A>G, XP_011538261.1:p.Asn431Ser, XP_011538262.1:p.Asn431Ser, XP_011538263.1:p.Asn431Ser, XP_016871903.1:p.Asn383Ser, XP_011538266.1:p.Asn431Ser, NP_942090.1:p.Asn431Ser, NP_001372293.1:p.Asn431Ser, NP_001352820.1:p.Asn431Ser, XP_011538264.1:p.Asn431Ser, NP_001382134.1:p.Asn431Ser, NP_001372295.1:p.Asn431Ser, NP_001372298.1:p.Asn431Ser, NP_001372299.1:p.Asn431Ser, NP_001372300.1:p.Asn383Ser, NP_001372292.1:p.Asn431Ser, NP_001372294.1:p.Asn431Ser, XP_047281442.1:p.Asn431Ser, NP_001372297.1:p.Asn431Ser, NP_001372296.1:p.Asn431Ser, XP_047281443.1:p.Asn383Ser, NP_001372301.1:p.Asn431Ser, XP_047281444.1:p.Asn383Ser, XP_047281445.1:p.Asn431Ser, XP_047281446.1:p.Asn431Ser, XP_047281447.1:p.Asn383Ser, XP_047281448.1:p.Asn383Ser

                          13.

                          rs1483067407 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:114210674 (GRCh38)
                            10:115970433 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:114210673:G:A
                            Gene:
                            TDRD1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000010.11:g.114210674G>A, NC_000010.10:g.115970433G>A, XM_011539959.3:c.1478G>A, XM_011539959.2:c.1478G>A, XM_011539959.1:c.1478G>A, XM_011539960.3:c.1478G>A, XM_011539960.2:c.1478G>A, XM_011539960.1:c.1478G>A, XM_011539961.3:c.1478G>A, XM_011539961.2:c.1478G>A, XM_011539961.1:c.1478G>A, XM_017016414.3:c.1334G>A, XM_017016414.2:c.1334G>A, XM_017016414.1:c.1334G>A, XM_011539964.3:c.1478G>A, XM_011539964.2:c.1478G>A, XM_011539964.1:c.1478G>A, NM_198795.2:c.1478G>A, NM_198795.1:c.1478G>A, NM_001385364.2:c.1478G>A, NM_001385364.1:c.1478G>A, NM_001365891.2:c.1478G>A, NM_001365891.1:c.1478G>A, XM_011539962.2:c.1478G>A, XM_011539962.1:c.1478G>A, NM_001395205.1:c.1478G>A, NM_001385366.1:c.1478G>A, NM_001385369.1:c.1478G>A, NM_001385370.1:c.1478G>A, NM_001385371.1:c.1334G>A, NM_001385363.1:c.1478G>A, NM_001385365.1:c.1478G>A, XM_047425486.1:c.1478G>A, NM_001385368.1:c.1478G>A, NM_001385367.1:c.1478G>A, XM_047425487.1:c.1334G>A, NM_001385372.1:c.1478G>A, XM_047425488.1:c.1334G>A, XM_047425489.1:c.1478G>A, XM_047425490.1:c.1478G>A, XM_047425491.1:c.1334G>A, XM_047425492.1:c.1334G>A, NM_031278.1:c.269G>A, XP_011538261.1:p.Gly493Asp, XP_011538262.1:p.Gly493Asp, XP_011538263.1:p.Gly493Asp, XP_016871903.1:p.Gly445Asp, XP_011538266.1:p.Gly493Asp, NP_942090.1:p.Gly493Asp, NP_001372293.1:p.Gly493Asp, NP_001352820.1:p.Gly493Asp, XP_011538264.1:p.Gly493Asp, NP_001382134.1:p.Gly493Asp, NP_001372295.1:p.Gly493Asp, NP_001372298.1:p.Gly493Asp, NP_001372299.1:p.Gly493Asp, NP_001372300.1:p.Gly445Asp, NP_001372292.1:p.Gly493Asp, NP_001372294.1:p.Gly493Asp, XP_047281442.1:p.Gly493Asp, NP_001372297.1:p.Gly493Asp, NP_001372296.1:p.Gly493Asp, XP_047281443.1:p.Gly445Asp, NP_001372301.1:p.Gly493Asp, XP_047281444.1:p.Gly445Asp, XP_047281445.1:p.Gly493Asp, XP_047281446.1:p.Gly493Asp, XP_047281447.1:p.Gly445Asp, XP_047281448.1:p.Gly445Asp

                            14.

                            rs1483030218 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              10:114187916 (GRCh38)
                              10:115947675 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:114187915:G:C
                              Gene:
                              TDRD1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000010.11:g.114187916G>C, NC_000010.10:g.115947675G>C, XM_011539959.3:c.85G>C, XM_011539959.2:c.85G>C, XM_011539959.1:c.85G>C, XM_011539960.3:c.85G>C, XM_011539960.2:c.85G>C, XM_011539960.1:c.85G>C, XM_011539961.3:c.85G>C, XM_011539961.2:c.85G>C, XM_011539961.1:c.85G>C, XM_017016414.3:c.85G>C, XM_017016414.2:c.85G>C, XM_017016414.1:c.85G>C, XM_011539964.3:c.85G>C, XM_011539964.2:c.85G>C, XM_011539964.1:c.85G>C, NM_198795.2:c.85G>C, NM_198795.1:c.85G>C, NM_001385364.2:c.85G>C, NM_001385364.1:c.85G>C, NM_001365891.2:c.85G>C, NM_001365891.1:c.85G>C, XM_011539962.2:c.85G>C, XM_011539962.1:c.85G>C, NM_001395205.1:c.85G>C, NM_001385366.1:c.85G>C, NM_001385369.1:c.85G>C, NM_001385370.1:c.85G>C, NM_001385371.1:c.85G>C, NM_001385363.1:c.85G>C, NM_001385365.1:c.85G>C, XM_047425486.1:c.85G>C, NM_001385368.1:c.85G>C, NM_001385367.1:c.85G>C, XM_047425487.1:c.85G>C, NM_001385372.1:c.85G>C, XM_047425488.1:c.85G>C, XM_047425489.1:c.85G>C, XM_047425490.1:c.85G>C, XM_047425491.1:c.85G>C, XM_047425492.1:c.85G>C, XP_011538261.1:p.Glu29Gln, XP_011538262.1:p.Glu29Gln, XP_011538263.1:p.Glu29Gln, XP_016871903.1:p.Glu29Gln, XP_011538266.1:p.Glu29Gln, NP_942090.1:p.Glu29Gln, NP_001372293.1:p.Glu29Gln, NP_001352820.1:p.Glu29Gln, XP_011538264.1:p.Glu29Gln, NP_001382134.1:p.Glu29Gln, NP_001372295.1:p.Glu29Gln, NP_001372298.1:p.Glu29Gln, NP_001372299.1:p.Glu29Gln, NP_001372300.1:p.Glu29Gln, NP_001372292.1:p.Glu29Gln, NP_001372294.1:p.Glu29Gln, XP_047281442.1:p.Glu29Gln, NP_001372297.1:p.Glu29Gln, NP_001372296.1:p.Glu29Gln, XP_047281443.1:p.Glu29Gln, NP_001372301.1:p.Glu29Gln, XP_047281444.1:p.Glu29Gln, XP_047281445.1:p.Glu29Gln, XP_047281446.1:p.Glu29Gln, XP_047281447.1:p.Glu29Gln, XP_047281448.1:p.Glu29Gln

                              15.

                              rs1482184488 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                10:114204155 (GRCh38)
                                10:115963914 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:114204154:A:C
                                Gene:
                                TDRD1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.114204155A>C, NC_000010.10:g.115963914A>C, XM_011539959.3:c.1064A>C, XM_011539959.2:c.1064A>C, XM_011539959.1:c.1064A>C, XM_011539960.3:c.1064A>C, XM_011539960.2:c.1064A>C, XM_011539960.1:c.1064A>C, XM_011539961.3:c.1064A>C, XM_011539961.2:c.1064A>C, XM_011539961.1:c.1064A>C, XM_011539964.3:c.1064A>C, XM_011539964.2:c.1064A>C, XM_011539964.1:c.1064A>C, NM_198795.2:c.1064A>C, NM_198795.1:c.1064A>C, NM_001385364.2:c.1064A>C, NM_001385364.1:c.1064A>C, NM_001365891.2:c.1064A>C, NM_001365891.1:c.1064A>C, XM_011539962.2:c.1064A>C, XM_011539962.1:c.1064A>C, NM_001395205.1:c.1064A>C, NM_001385366.1:c.1064A>C, NM_001385369.1:c.1064A>C, NM_001385370.1:c.1064A>C, NM_001385363.1:c.1064A>C, NM_001385365.1:c.1064A>C, XM_047425486.1:c.1064A>C, NM_001385368.1:c.1064A>C, NM_001385367.1:c.1064A>C, NM_001385372.1:c.1064A>C, XM_047425489.1:c.1064A>C, XM_047425490.1:c.1064A>C, NM_031278.1:c.-146A>C, XP_011538261.1:p.Glu355Ala, XP_011538262.1:p.Glu355Ala, XP_011538263.1:p.Glu355Ala, XP_011538266.1:p.Glu355Ala, NP_942090.1:p.Glu355Ala, NP_001372293.1:p.Glu355Ala, NP_001352820.1:p.Glu355Ala, XP_011538264.1:p.Glu355Ala, NP_001382134.1:p.Glu355Ala, NP_001372295.1:p.Glu355Ala, NP_001372298.1:p.Glu355Ala, NP_001372299.1:p.Glu355Ala, NP_001372292.1:p.Glu355Ala, NP_001372294.1:p.Glu355Ala, XP_047281442.1:p.Glu355Ala, NP_001372297.1:p.Glu355Ala, NP_001372296.1:p.Glu355Ala, NP_001372301.1:p.Glu355Ala, XP_047281445.1:p.Glu355Ala, XP_047281446.1:p.Glu355Ala

                                16.

                                rs1480118141 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  10:114220787 (GRCh38)
                                  10:115980546 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:114220786:C:G
                                  Gene:
                                  TDRD1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.114220787C>G, NC_000010.10:g.115980546C>G, XM_011539959.3:c.2714C>G, XM_011539959.2:c.2714C>G, XM_011539959.1:c.2714C>G, XM_011539960.3:c.2714C>G, XM_011539960.2:c.2714C>G, XM_011539960.1:c.2714C>G, XM_011539961.3:c.2714C>G, XM_011539961.2:c.2714C>G, XM_011539961.1:c.2714C>G, XM_017016414.3:c.2570C>G, XM_017016414.2:c.2570C>G, XM_017016414.1:c.2570C>G, XM_011539964.3:c.2543C>G, XM_011539964.2:c.2543C>G, XM_011539964.1:c.2543C>G, NM_198795.2:c.2714C>G, NM_198795.1:c.2714C>G, NM_001385364.2:c.2714C>G, NM_001385364.1:c.2714C>G, NM_001365891.2:c.2714C>G, NM_001365891.1:c.2714C>G, XM_011539962.2:c.2714C>G, XM_011539962.1:c.2714C>G, NM_001395205.1:c.2714C>G, NM_001385366.1:c.2543C>G, NM_001385369.1:c.2714C>G, NM_001385370.1:c.2372C>G, NM_001385371.1:c.2570C>G, NM_001385363.1:c.2714C>G, NM_001385365.1:c.2714C>G, XM_047425486.1:c.2543C>G, NM_001385368.1:c.2714C>G, NM_001385367.1:c.2714C>G, XM_047425487.1:c.2399C>G, NM_001385372.1:c.2714C>G, XM_047425488.1:c.2570C>G, XM_047425489.1:c.2543C>G, XM_047425490.1:c.2543C>G, XM_047425491.1:c.2399C>G, XM_047425492.1:c.2399C>G, NM_031278.1:c.1505C>G, XP_011538261.1:p.Pro905Arg, XP_011538262.1:p.Pro905Arg, XP_011538263.1:p.Pro905Arg, XP_016871903.1:p.Pro857Arg, XP_011538266.1:p.Pro848Arg, NP_942090.1:p.Pro905Arg, NP_001372293.1:p.Pro905Arg, NP_001352820.1:p.Pro905Arg, XP_011538264.1:p.Pro905Arg, NP_001382134.1:p.Pro905Arg, NP_001372295.1:p.Pro848Arg, NP_001372298.1:p.Pro905Arg, NP_001372299.1:p.Pro791Arg, NP_001372300.1:p.Pro857Arg, NP_001372292.1:p.Pro905Arg, NP_001372294.1:p.Pro905Arg, XP_047281442.1:p.Pro848Arg, NP_001372297.1:p.Pro905Arg, NP_001372296.1:p.Pro905Arg, XP_047281443.1:p.Pro800Arg, NP_001372301.1:p.Pro905Arg, XP_047281444.1:p.Pro857Arg, XP_047281445.1:p.Pro848Arg, XP_047281446.1:p.Pro848Arg, XP_047281447.1:p.Pro800Arg, XP_047281448.1:p.Pro800Arg

                                  17.

                                  rs1479879381 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    10:114203423 (GRCh38)
                                    10:115963182 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:114203422:C:G
                                    Gene:
                                    TDRD1 (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_000010.11:g.114203423C>G, NC_000010.10:g.115963182C>G, XM_011539959.3:c.837C>G, XM_011539959.2:c.837C>G, XM_011539959.1:c.837C>G, XM_011539960.3:c.837C>G, XM_011539960.2:c.837C>G, XM_011539960.1:c.837C>G, XM_011539961.3:c.837C>G, XM_011539961.2:c.837C>G, XM_011539961.1:c.837C>G, XM_017016414.3:c.837C>G, XM_017016414.2:c.837C>G, XM_017016414.1:c.837C>G, XM_011539964.3:c.837C>G, XM_011539964.2:c.837C>G, XM_011539964.1:c.837C>G, NM_198795.2:c.837C>G, NM_198795.1:c.837C>G, NM_001385364.2:c.837C>G, NM_001385364.1:c.837C>G, NM_001365891.2:c.837C>G, NM_001365891.1:c.837C>G, XM_011539962.2:c.837C>G, XM_011539962.1:c.837C>G, NM_001395205.1:c.837C>G, NM_001385366.1:c.837C>G, NM_001385369.1:c.837C>G, NM_001385370.1:c.837C>G, NM_001385371.1:c.837C>G, NM_001385363.1:c.837C>G, NM_001385365.1:c.837C>G, XM_047425486.1:c.837C>G, NM_001385368.1:c.837C>G, NM_001385367.1:c.837C>G, XM_047425487.1:c.837C>G, NM_001385372.1:c.837C>G, XM_047425488.1:c.837C>G, XM_047425489.1:c.837C>G, XM_047425490.1:c.837C>G, XM_047425491.1:c.837C>G, XM_047425492.1:c.837C>G, XP_011538261.1:p.Phe279Leu, XP_011538262.1:p.Phe279Leu, XP_011538263.1:p.Phe279Leu, XP_016871903.1:p.Phe279Leu, XP_011538266.1:p.Phe279Leu, NP_942090.1:p.Phe279Leu, NP_001372293.1:p.Phe279Leu, NP_001352820.1:p.Phe279Leu, XP_011538264.1:p.Phe279Leu, NP_001382134.1:p.Phe279Leu, NP_001372295.1:p.Phe279Leu, NP_001372298.1:p.Phe279Leu, NP_001372299.1:p.Phe279Leu, NP_001372300.1:p.Phe279Leu, NP_001372292.1:p.Phe279Leu, NP_001372294.1:p.Phe279Leu, XP_047281442.1:p.Phe279Leu, NP_001372297.1:p.Phe279Leu, NP_001372296.1:p.Phe279Leu, XP_047281443.1:p.Phe279Leu, NP_001372301.1:p.Phe279Leu, XP_047281444.1:p.Phe279Leu, XP_047281445.1:p.Phe279Leu, XP_047281446.1:p.Phe279Leu, XP_047281447.1:p.Phe279Leu, XP_047281448.1:p.Phe279Leu

                                    18.

                                    rs1479727973 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:114220809 (GRCh38)
                                      10:115980568 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:114220808:A:G
                                      Gene:
                                      TDRD1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.114220809A>G, NC_000010.10:g.115980568A>G, XM_011539959.3:c.2736A>G, XM_011539959.2:c.2736A>G, XM_011539959.1:c.2736A>G, XM_011539960.3:c.2736A>G, XM_011539960.2:c.2736A>G, XM_011539960.1:c.2736A>G, XM_011539961.3:c.2736A>G, XM_011539961.2:c.2736A>G, XM_011539961.1:c.2736A>G, XM_017016414.3:c.2592A>G, XM_017016414.2:c.2592A>G, XM_017016414.1:c.2592A>G, XM_011539964.3:c.2565A>G, XM_011539964.2:c.2565A>G, XM_011539964.1:c.2565A>G, NM_198795.2:c.2736A>G, NM_198795.1:c.2736A>G, NM_001385364.2:c.2736A>G, NM_001385364.1:c.2736A>G, NM_001365891.2:c.2736A>G, NM_001365891.1:c.2736A>G, XM_011539962.2:c.2736A>G, XM_011539962.1:c.2736A>G, NM_001395205.1:c.2736A>G, NM_001385366.1:c.2565A>G, NM_001385369.1:c.2736A>G, NM_001385370.1:c.2394A>G, NM_001385371.1:c.2592A>G, NM_001385363.1:c.2736A>G, NM_001385365.1:c.2736A>G, XM_047425486.1:c.2565A>G, NM_001385368.1:c.2736A>G, NM_001385367.1:c.2736A>G, XM_047425487.1:c.2421A>G, NM_001385372.1:c.2736A>G, XM_047425488.1:c.2592A>G, XM_047425489.1:c.2565A>G, XM_047425490.1:c.2565A>G, XM_047425491.1:c.2421A>G, XM_047425492.1:c.2421A>G, NM_031278.1:c.1527A>G

                                      19.

                                      rs1478325480 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:114210740 (GRCh38)
                                        10:115970499 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:114210739:A:G
                                        Gene:
                                        TDRD1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.114210740A>G, NC_000010.10:g.115970499A>G, XM_011539959.3:c.1544A>G, XM_011539959.2:c.1544A>G, XM_011539959.1:c.1544A>G, XM_011539960.3:c.1544A>G, XM_011539960.2:c.1544A>G, XM_011539960.1:c.1544A>G, XM_011539961.3:c.1544A>G, XM_011539961.2:c.1544A>G, XM_011539961.1:c.1544A>G, XM_017016414.3:c.1400A>G, XM_017016414.2:c.1400A>G, XM_017016414.1:c.1400A>G, XM_011539964.3:c.1544A>G, XM_011539964.2:c.1544A>G, XM_011539964.1:c.1544A>G, NM_198795.2:c.1544A>G, NM_198795.1:c.1544A>G, NM_001385364.2:c.1544A>G, NM_001385364.1:c.1544A>G, NM_001365891.2:c.1544A>G, NM_001365891.1:c.1544A>G, XM_011539962.2:c.1544A>G, XM_011539962.1:c.1544A>G, NM_001395205.1:c.1544A>G, NM_001385366.1:c.1544A>G, NM_001385369.1:c.1544A>G, NM_001385370.1:c.1544A>G, NM_001385371.1:c.1400A>G, NM_001385363.1:c.1544A>G, NM_001385365.1:c.1544A>G, XM_047425486.1:c.1544A>G, NM_001385368.1:c.1544A>G, NM_001385367.1:c.1544A>G, XM_047425487.1:c.1400A>G, NM_001385372.1:c.1544A>G, XM_047425488.1:c.1400A>G, XM_047425489.1:c.1544A>G, XM_047425490.1:c.1544A>G, XM_047425491.1:c.1400A>G, XM_047425492.1:c.1400A>G, NM_031278.1:c.335A>G, XP_011538261.1:p.Gln515Arg, XP_011538262.1:p.Gln515Arg, XP_011538263.1:p.Gln515Arg, XP_016871903.1:p.Gln467Arg, XP_011538266.1:p.Gln515Arg, NP_942090.1:p.Gln515Arg, NP_001372293.1:p.Gln515Arg, NP_001352820.1:p.Gln515Arg, XP_011538264.1:p.Gln515Arg, NP_001382134.1:p.Gln515Arg, NP_001372295.1:p.Gln515Arg, NP_001372298.1:p.Gln515Arg, NP_001372299.1:p.Gln515Arg, NP_001372300.1:p.Gln467Arg, NP_001372292.1:p.Gln515Arg, NP_001372294.1:p.Gln515Arg, XP_047281442.1:p.Gln515Arg, NP_001372297.1:p.Gln515Arg, NP_001372296.1:p.Gln515Arg, XP_047281443.1:p.Gln467Arg, NP_001372301.1:p.Gln515Arg, XP_047281444.1:p.Gln467Arg, XP_047281445.1:p.Gln515Arg, XP_047281446.1:p.Gln515Arg, XP_047281447.1:p.Gln467Arg, XP_047281448.1:p.Gln467Arg

                                        20.

                                        rs1476693702 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          10:114199251 (GRCh38)
                                          10:115959010 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:114199250:C:G
                                          Gene:
                                          TDRD1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.114199251C>G, NC_000010.10:g.115959010C>G, XM_011539959.3:c.463C>G, XM_011539959.2:c.463C>G, XM_011539959.1:c.463C>G, XM_011539960.3:c.463C>G, XM_011539960.2:c.463C>G, XM_011539960.1:c.463C>G, XM_011539961.3:c.463C>G, XM_011539961.2:c.463C>G, XM_011539961.1:c.463C>G, XM_017016414.3:c.463C>G, XM_017016414.2:c.463C>G, XM_017016414.1:c.463C>G, XM_011539964.3:c.463C>G, XM_011539964.2:c.463C>G, XM_011539964.1:c.463C>G, NM_198795.2:c.463C>G, NM_198795.1:c.463C>G, NM_001385364.2:c.463C>G, NM_001385364.1:c.463C>G, NM_001365891.2:c.463C>G, NM_001365891.1:c.463C>G, XM_011539962.2:c.463C>G, XM_011539962.1:c.463C>G, NM_001395205.1:c.463C>G, NM_001385366.1:c.463C>G, NM_001385369.1:c.463C>G, NM_001385370.1:c.463C>G, NM_001385371.1:c.463C>G, NM_001385363.1:c.463C>G, NM_001385365.1:c.463C>G, XM_047425486.1:c.463C>G, NM_001385368.1:c.463C>G, NM_001385367.1:c.463C>G, XM_047425487.1:c.463C>G, NM_001385372.1:c.463C>G, XM_047425488.1:c.463C>G, XM_047425489.1:c.463C>G, XM_047425490.1:c.463C>G, XM_047425491.1:c.463C>G, XM_047425492.1:c.463C>G, XP_011538261.1:p.Pro155Ala, XP_011538262.1:p.Pro155Ala, XP_011538263.1:p.Pro155Ala, XP_016871903.1:p.Pro155Ala, XP_011538266.1:p.Pro155Ala, NP_942090.1:p.Pro155Ala, NP_001372293.1:p.Pro155Ala, NP_001352820.1:p.Pro155Ala, XP_011538264.1:p.Pro155Ala, NP_001382134.1:p.Pro155Ala, NP_001372295.1:p.Pro155Ala, NP_001372298.1:p.Pro155Ala, NP_001372299.1:p.Pro155Ala, NP_001372300.1:p.Pro155Ala, NP_001372292.1:p.Pro155Ala, NP_001372294.1:p.Pro155Ala, XP_047281442.1:p.Pro155Ala, NP_001372297.1:p.Pro155Ala, NP_001372296.1:p.Pro155Ala, XP_047281443.1:p.Pro155Ala, NP_001372301.1:p.Pro155Ala, XP_047281444.1:p.Pro155Ala, XP_047281445.1:p.Pro155Ala, XP_047281446.1:p.Pro155Ala, XP_047281447.1:p.Pro155Ala, XP_047281448.1:p.Pro155Ala

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