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Items: 1 to 20 of 275

1.

rs1490746351 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    18:45734365 (GRCh38)
    18:43314330 (GRCh37)
    Canonical SPDI:
    NC_000018.10:45734364:T:C
    Gene:
    SLC14A1 (Varview), LOC105372093 (Varview)
    Functional Consequence:
    missense_variant,intron_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_000018.10:g.45734365T>C, NC_000018.9:g.43314330T>C, NG_011775.4:g.52341T>C, NM_015865.7:c.433T>C, NM_015865.6:c.433T>C, NM_001128588.4:c.601T>C, NM_001128588.3:c.601T>C, NM_001146036.3:c.433T>C, NM_001146036.2:c.433T>C, NM_001308278.2:c.118T>C, NM_001308278.1:c.118T>C, NM_001308279.2:c.37T>C, NM_001308279.1:c.37T>C, NM_001146037.1:c.601T>C, XM_006722526.4:c.538T>C, XM_006722526.3:c.538T>C, XM_006722526.2:c.538T>C, XM_006722526.1:c.538T>C, XM_011526142.2:c.538T>C, XM_011526142.1:c.538T>C, XM_005258333.2:c.37T>C, XM_005258333.1:c.37T>C, XM_005258329.2:c.601T>C, XM_005258329.1:c.601T>C, XM_011526144.2:c.601T>C, XM_011526144.1:c.601T>C, XM_047437758.1:c.538T>C, XM_047437759.1:c.601T>C, NP_056949.4:p.Trp145Arg, NP_001122060.3:p.Trp201Arg, NP_001139508.2:p.Trp145Arg, NP_001295207.1:p.Trp40Arg, NP_001295208.1:p.Trp13Arg, NP_001139509.1:p.Trp201Arg, XP_006722589.1:p.Trp180Arg, XP_011524444.1:p.Trp180Arg, XP_005258390.1:p.Trp13Arg, XP_005258386.1:p.Trp201Arg, XP_011524446.1:p.Trp201Arg, XP_047293714.1:p.Trp180Arg, XP_047293715.1:p.Trp201Arg

    2.

    rs1485319745 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      18:45749805 (GRCh38)
      18:43329770 (GRCh37)
      Canonical SPDI:
      NC_000018.10:45749804:T:C
      Gene:
      SLC14A1 (Varview), LOC105372093 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000011/3 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000018.10:g.45749805T>C, NC_000018.9:g.43329770T>C, NG_011775.4:g.67781T>C, NM_015865.7:c.1024T>C, NM_015865.6:c.1024T>C, NM_001128588.4:c.1192T>C, NM_001128588.3:c.1192T>C, NM_001146036.3:c.1024T>C, NM_001146036.2:c.1024T>C, NM_001308278.2:c.709T>C, NM_001308278.1:c.709T>C, NM_001308279.2:c.628T>C, NM_001308279.1:c.628T>C, NM_001146037.1:c.1192T>C, XM_006722526.4:c.1129T>C, XM_006722526.3:c.1129T>C, XM_006722526.2:c.1129T>C, XM_006722526.1:c.1129T>C, XM_011526142.2:c.1129T>C, XM_011526142.1:c.1129T>C, XM_005258333.2:c.628T>C, XM_005258333.1:c.628T>C, XM_047437758.1:c.1129T>C, NP_056949.4:p.Phe342Leu, NP_001122060.3:p.Phe398Leu, NP_001139508.2:p.Phe342Leu, NP_001295207.1:p.Phe237Leu, NP_001295208.1:p.Phe210Leu, NP_001139509.1:p.Phe398Leu, XP_006722589.1:p.Phe377Leu, XP_011524444.1:p.Phe377Leu, XP_005258390.1:p.Phe210Leu, XP_047293714.1:p.Phe377Leu

      3.

      rs1485141896 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        18:45734390 (GRCh38)
        18:43314355 (GRCh37)
        Canonical SPDI:
        NC_000018.10:45734389:T:C
        Gene:
        SLC14A1 (Varview), LOC105372093 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        C=0.000035/1 (TOMMO)
        HGVS:
        NC_000018.10:g.45734390T>C, NC_000018.9:g.43314355T>C, NG_011775.4:g.52366T>C, NM_015865.7:c.458T>C, NM_015865.6:c.458T>C, NM_001128588.4:c.626T>C, NM_001128588.3:c.626T>C, NM_001146036.3:c.458T>C, NM_001146036.2:c.458T>C, NM_001308278.2:c.143T>C, NM_001308278.1:c.143T>C, NM_001308279.2:c.62T>C, NM_001308279.1:c.62T>C, NM_001146037.1:c.626T>C, XM_006722526.4:c.563T>C, XM_006722526.3:c.563T>C, XM_006722526.2:c.563T>C, XM_006722526.1:c.563T>C, XM_011526142.2:c.563T>C, XM_011526142.1:c.563T>C, XM_005258333.2:c.62T>C, XM_005258333.1:c.62T>C, XM_005258329.2:c.626T>C, XM_005258329.1:c.626T>C, XM_011526144.2:c.626T>C, XM_011526144.1:c.626T>C, XM_047437758.1:c.563T>C, XM_047437759.1:c.626T>C, NP_056949.4:p.Met153Thr, NP_001122060.3:p.Met209Thr, NP_001139508.2:p.Met153Thr, NP_001295207.1:p.Met48Thr, NP_001295208.1:p.Met21Thr, NP_001139509.1:p.Met209Thr, XP_006722589.1:p.Met188Thr, XP_011524444.1:p.Met188Thr, XP_005258390.1:p.Met21Thr, XP_005258386.1:p.Met209Thr, XP_011524446.1:p.Met209Thr, XP_047293714.1:p.Met188Thr, XP_047293715.1:p.Met209Thr

        4.

        rs1484816499 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          18:45736582 (GRCh38)
          18:43316547 (GRCh37)
          Canonical SPDI:
          NC_000018.10:45736581:A:C
          Gene:
          SLC14A1 (Varview), LOC105372093 (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1482857415 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            18:45748403 (GRCh38)
            18:43328368 (GRCh37)
            Canonical SPDI:
            NC_000018.10:45748402:G:T
            Gene:
            SLC14A1 (Varview), LOC105372093 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.45748403G>T, NC_000018.9:g.43328368G>T, NG_011775.4:g.66379G>T, NM_015865.7:c.974G>T, NM_015865.6:c.974G>T, NM_001128588.4:c.1142G>T, NM_001128588.3:c.1142G>T, NM_001146036.3:c.974G>T, NM_001146036.2:c.974G>T, NM_001308278.2:c.659G>T, NM_001308278.1:c.659G>T, NM_001308279.2:c.578G>T, NM_001308279.1:c.578G>T, NM_001146037.1:c.1142G>T, XM_006722526.4:c.1079G>T, XM_006722526.3:c.1079G>T, XM_006722526.2:c.1079G>T, XM_006722526.1:c.1079G>T, XM_011526142.2:c.1079G>T, XM_011526142.1:c.1079G>T, XM_005258333.2:c.578G>T, XM_005258333.1:c.578G>T, XM_005258329.2:c.1142G>T, XM_005258329.1:c.1142G>T, XM_047437758.1:c.1079G>T, NP_056949.4:p.Gly325Val, NP_001122060.3:p.Gly381Val, NP_001139508.2:p.Gly325Val, NP_001295207.1:p.Gly220Val, NP_001295208.1:p.Gly193Val, NP_001139509.1:p.Gly381Val, XP_006722589.1:p.Gly360Val, XP_011524444.1:p.Gly360Val, XP_005258390.1:p.Gly193Val, XP_005258386.1:p.Gly381Val, XP_047293714.1:p.Gly360Val

            6.

            rs1480243917 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              18:45739662 (GRCh38)
              18:43319627 (GRCh37)
              Canonical SPDI:
              NC_000018.10:45739661:G:T
              Gene:
              SLC14A1 (Varview), LOC105372093 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              HGVS:
              NC_000018.10:g.45739662G>T, NC_000018.9:g.43319627G>T, NG_011775.4:g.57638G>T, NM_015865.7:c.946G>T, NM_015865.6:c.946G>T, NM_001128588.4:c.1114G>T, NM_001128588.3:c.1114G>T, NM_001146036.3:c.946G>T, NM_001146036.2:c.946G>T, NM_001308278.2:c.631G>T, NM_001308278.1:c.631G>T, NM_001308279.2:c.550G>T, NM_001308279.1:c.550G>T, NM_001146037.1:c.1114G>T, XM_006722526.4:c.1051G>T, XM_006722526.3:c.1051G>T, XM_006722526.2:c.1051G>T, XM_006722526.1:c.1051G>T, XM_011526142.2:c.1051G>T, XM_011526142.1:c.1051G>T, XM_005258333.2:c.550G>T, XM_005258333.1:c.550G>T, XM_005258329.2:c.1114G>T, XM_005258329.1:c.1114G>T, XM_011526144.2:c.1114G>T, XM_011526144.1:c.1114G>T, XM_047437758.1:c.1051G>T, XM_047437759.1:c.1114G>T, NP_056949.4:p.Ala316Ser, NP_001122060.3:p.Ala372Ser, NP_001139508.2:p.Ala316Ser, NP_001295207.1:p.Ala211Ser, NP_001295208.1:p.Ala184Ser, NP_001139509.1:p.Ala372Ser, XP_006722589.1:p.Ala351Ser, XP_011524444.1:p.Ala351Ser, XP_005258390.1:p.Ala184Ser, XP_005258386.1:p.Ala372Ser, XP_011524446.1:p.Gly372Trp, XP_047293714.1:p.Ala351Ser, XP_047293715.1:p.Gly372Cys

              7.

              rs1474722717 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                18:45739226 (GRCh38)
                18:43319191 (GRCh37)
                Canonical SPDI:
                NC_000018.10:45739225:G:A,NC_000018.10:45739225:G:C
                Gene:
                SLC14A1 (Varview), LOC105372093 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000054/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000223/1 (Estonian)
                HGVS:
                NC_000018.10:g.45739226G>A, NC_000018.10:g.45739226G>C, NC_000018.9:g.43319191G>A, NC_000018.9:g.43319191G>C, NG_011775.4:g.57202G>A, NG_011775.4:g.57202G>C, NM_015865.7:c.727G>A, NM_015865.7:c.727G>C, NM_015865.6:c.727G>A, NM_015865.6:c.727G>C, NM_001128588.4:c.895G>A, NM_001128588.4:c.895G>C, NM_001128588.3:c.895G>A, NM_001128588.3:c.895G>C, NM_001146036.3:c.727G>A, NM_001146036.3:c.727G>C, NM_001146036.2:c.727G>A, NM_001146036.2:c.727G>C, NM_001308278.2:c.412G>A, NM_001308278.2:c.412G>C, NM_001308278.1:c.412G>A, NM_001308278.1:c.412G>C, NM_001308279.2:c.331G>A, NM_001308279.2:c.331G>C, NM_001308279.1:c.331G>A, NM_001308279.1:c.331G>C, NM_001146037.1:c.895G>A, NM_001146037.1:c.895G>C, XM_006722526.4:c.832G>A, XM_006722526.4:c.832G>C, XM_006722526.3:c.832G>A, XM_006722526.3:c.832G>C, XM_006722526.2:c.832G>A, XM_006722526.2:c.832G>C, XM_006722526.1:c.832G>A, XM_006722526.1:c.832G>C, XM_011526142.2:c.832G>A, XM_011526142.2:c.832G>C, XM_011526142.1:c.832G>A, XM_011526142.1:c.832G>C, XM_005258333.2:c.331G>A, XM_005258333.2:c.331G>C, XM_005258333.1:c.331G>A, XM_005258333.1:c.331G>C, XM_005258329.2:c.895G>A, XM_005258329.2:c.895G>C, XM_005258329.1:c.895G>A, XM_005258329.1:c.895G>C, XM_011526144.2:c.895G>A, XM_011526144.2:c.895G>C, XM_011526144.1:c.895G>A, XM_011526144.1:c.895G>C, XM_047437758.1:c.832G>A, XM_047437758.1:c.832G>C, XM_047437759.1:c.895G>A, XM_047437759.1:c.895G>C, NP_056949.4:p.Gly243Ser, NP_056949.4:p.Gly243Arg, NP_001122060.3:p.Gly299Ser, NP_001122060.3:p.Gly299Arg, NP_001139508.2:p.Gly243Ser, NP_001139508.2:p.Gly243Arg, NP_001295207.1:p.Gly138Ser, NP_001295207.1:p.Gly138Arg, NP_001295208.1:p.Gly111Ser, NP_001295208.1:p.Gly111Arg, NP_001139509.1:p.Gly299Ser, NP_001139509.1:p.Gly299Arg, XP_006722589.1:p.Gly278Ser, XP_006722589.1:p.Gly278Arg, XP_011524444.1:p.Gly278Ser, XP_011524444.1:p.Gly278Arg, XP_005258390.1:p.Gly111Ser, XP_005258390.1:p.Gly111Arg, XP_005258386.1:p.Gly299Ser, XP_005258386.1:p.Gly299Arg, XP_011524446.1:p.Gly299Ser, XP_011524446.1:p.Gly299Arg, XP_047293714.1:p.Gly278Ser, XP_047293714.1:p.Gly278Arg, XP_047293715.1:p.Gly299Ser, XP_047293715.1:p.Gly299Arg

                8.

                rs1470584711 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  18:45739565 (GRCh38)
                  18:43319530 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:45739564:T:C
                  Gene:
                  SLC14A1 (Varview), LOC105372093 (Varview)
                  Functional Consequence:
                  synonymous_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1465374937 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    18:45739202 (GRCh38)
                    18:43319167 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:45739201:G:A
                    Gene:
                    SLC14A1 (Varview), LOC105372093 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000018.10:g.45739202G>A, NC_000018.9:g.43319167G>A, NG_011775.4:g.57178G>A, NM_015865.7:c.703G>A, NM_015865.6:c.703G>A, NM_001128588.4:c.871G>A, NM_001128588.3:c.871G>A, NM_001146036.3:c.703G>A, NM_001146036.2:c.703G>A, NM_001308278.2:c.388G>A, NM_001308278.1:c.388G>A, NM_001308279.2:c.307G>A, NM_001308279.1:c.307G>A, NM_001146037.1:c.871G>A, XM_006722526.4:c.808G>A, XM_006722526.3:c.808G>A, XM_006722526.2:c.808G>A, XM_006722526.1:c.808G>A, XM_011526142.2:c.808G>A, XM_011526142.1:c.808G>A, XM_005258333.2:c.307G>A, XM_005258333.1:c.307G>A, XM_005258329.2:c.871G>A, XM_005258329.1:c.871G>A, XM_011526144.2:c.871G>A, XM_011526144.1:c.871G>A, XM_047437758.1:c.808G>A, XM_047437759.1:c.871G>A, NP_056949.4:p.Gly235Ser, NP_001122060.3:p.Gly291Ser, NP_001139508.2:p.Gly235Ser, NP_001295207.1:p.Gly130Ser, NP_001295208.1:p.Gly103Ser, NP_001139509.1:p.Gly291Ser, XP_006722589.1:p.Gly270Ser, XP_011524444.1:p.Gly270Ser, XP_005258390.1:p.Gly103Ser, XP_005258386.1:p.Gly291Ser, XP_011524446.1:p.Gly291Ser, XP_047293714.1:p.Gly270Ser, XP_047293715.1:p.Gly291Ser

                    10.

                    rs1460927307 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      18:45734342 (GRCh38)
                      18:43314307 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:45734341:C:G,NC_000018.10:45734341:C:T
                      Gene:
                      SLC14A1 (Varview), LOC105372093 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.45734342C>G, NC_000018.10:g.45734342C>T, NC_000018.9:g.43314307C>G, NC_000018.9:g.43314307C>T, NG_011775.4:g.52318C>G, NG_011775.4:g.52318C>T, NM_015865.7:c.410C>G, NM_015865.7:c.410C>T, NM_015865.6:c.410C>G, NM_015865.6:c.410C>T, NM_001128588.4:c.578C>G, NM_001128588.4:c.578C>T, NM_001128588.3:c.578C>G, NM_001128588.3:c.578C>T, NM_001146036.3:c.410C>G, NM_001146036.3:c.410C>T, NM_001146036.2:c.410C>G, NM_001146036.2:c.410C>T, NM_001308278.2:c.95C>G, NM_001308278.2:c.95C>T, NM_001308278.1:c.95C>G, NM_001308278.1:c.95C>T, NM_001308279.2:c.14C>G, NM_001308279.2:c.14C>T, NM_001308279.1:c.14C>G, NM_001308279.1:c.14C>T, NM_001146037.1:c.578C>G, NM_001146037.1:c.578C>T, XM_006722526.4:c.515C>G, XM_006722526.4:c.515C>T, XM_006722526.3:c.515C>G, XM_006722526.3:c.515C>T, XM_006722526.2:c.515C>G, XM_006722526.2:c.515C>T, XM_006722526.1:c.515C>G, XM_006722526.1:c.515C>T, XM_011526142.2:c.515C>G, XM_011526142.2:c.515C>T, XM_011526142.1:c.515C>G, XM_011526142.1:c.515C>T, XM_005258333.2:c.14C>G, XM_005258333.2:c.14C>T, XM_005258333.1:c.14C>G, XM_005258333.1:c.14C>T, XM_005258329.2:c.578C>G, XM_005258329.2:c.578C>T, XM_005258329.1:c.578C>G, XM_005258329.1:c.578C>T, XM_011526144.2:c.578C>G, XM_011526144.2:c.578C>T, XM_011526144.1:c.578C>G, XM_011526144.1:c.578C>T, XM_047437758.1:c.515C>G, XM_047437758.1:c.515C>T, XM_047437759.1:c.578C>G, XM_047437759.1:c.578C>T, NP_056949.4:p.Ser137Trp, NP_056949.4:p.Ser137Leu, NP_001122060.3:p.Ser193Trp, NP_001122060.3:p.Ser193Leu, NP_001139508.2:p.Ser137Trp, NP_001139508.2:p.Ser137Leu, NP_001295207.1:p.Ser32Trp, NP_001295207.1:p.Ser32Leu, NP_001295208.1:p.Ser5Trp, NP_001295208.1:p.Ser5Leu, NP_001139509.1:p.Ser193Trp, NP_001139509.1:p.Ser193Leu, XP_006722589.1:p.Ser172Trp, XP_006722589.1:p.Ser172Leu, XP_011524444.1:p.Ser172Trp, XP_011524444.1:p.Ser172Leu, XP_005258390.1:p.Ser5Trp, XP_005258390.1:p.Ser5Leu, XP_005258386.1:p.Ser193Trp, XP_005258386.1:p.Ser193Leu, XP_011524446.1:p.Ser193Trp, XP_011524446.1:p.Ser193Leu, XP_047293714.1:p.Ser172Trp, XP_047293714.1:p.Ser172Leu, XP_047293715.1:p.Ser193Trp, XP_047293715.1:p.Ser193Leu

                      11.

                      rs1459787548 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        18:45749784 (GRCh38)
                        18:43329749 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:45749783:T:A,NC_000018.10:45749783:T:C
                        Gene:
                        SLC14A1 (Varview), LOC105372093 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        T=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000018.10:g.45749784T>A, NC_000018.10:g.45749784T>C, NC_000018.9:g.43329749T>A, NC_000018.9:g.43329749T>C, NG_011775.4:g.67760T>A, NG_011775.4:g.67760T>C, NM_015865.7:c.1003T>A, NM_015865.7:c.1003T>C, NM_015865.6:c.1003T>A, NM_015865.6:c.1003T>C, NM_001128588.4:c.1171T>A, NM_001128588.4:c.1171T>C, NM_001128588.3:c.1171T>A, NM_001128588.3:c.1171T>C, NM_001146036.3:c.1003T>A, NM_001146036.3:c.1003T>C, NM_001146036.2:c.1003T>A, NM_001146036.2:c.1003T>C, NM_001308278.2:c.688T>A, NM_001308278.2:c.688T>C, NM_001308278.1:c.688T>A, NM_001308278.1:c.688T>C, NM_001308279.2:c.607T>A, NM_001308279.2:c.607T>C, NM_001308279.1:c.607T>A, NM_001308279.1:c.607T>C, NM_001146037.1:c.1171T>A, NM_001146037.1:c.1171T>C, XM_006722526.4:c.1108T>A, XM_006722526.4:c.1108T>C, XM_006722526.3:c.1108T>A, XM_006722526.3:c.1108T>C, XM_006722526.2:c.1108T>A, XM_006722526.2:c.1108T>C, XM_006722526.1:c.1108T>A, XM_006722526.1:c.1108T>C, XM_011526142.2:c.1108T>A, XM_011526142.2:c.1108T>C, XM_011526142.1:c.1108T>A, XM_011526142.1:c.1108T>C, XM_005258333.2:c.607T>A, XM_005258333.2:c.607T>C, XM_005258333.1:c.607T>A, XM_005258333.1:c.607T>C, XM_047437758.1:c.1108T>A, XM_047437758.1:c.1108T>C, NP_056949.4:p.Leu335Met, NP_001122060.3:p.Leu391Met, NP_001139508.2:p.Leu335Met, NP_001295207.1:p.Leu230Met, NP_001295208.1:p.Leu203Met, NP_001139509.1:p.Leu391Met, XP_006722589.1:p.Leu370Met, XP_011524444.1:p.Leu370Met, XP_005258390.1:p.Leu203Met, XP_047293714.1:p.Leu370Met

                        12.

                        rs1455081495 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:45749819 (GRCh38)
                          18:43329784 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:45749818:G:A
                          Gene:
                          SLC14A1 (Varview), LOC105372093 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000028/1 (ALFA)
                          A=0.000012/3 (GnomAD_exomes)
                          A=0.000019/5 (TOPMED)
                          A=0.000036/5 (GnomAD)
                          A=0.000106/2 (TOMMO)
                          HGVS:

                          13.

                          rs1454626837 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            18:45736549 (GRCh38)
                            18:43316514 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:45736548:T:C
                            Gene:
                            SLC14A1 (Varview), LOC105372093 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1451683369 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              18:45739596 (GRCh38)
                              18:43319561 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:45739595:T:G
                              Gene:
                              SLC14A1 (Varview), LOC105372093 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000111/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.45739596T>G, NC_000018.9:g.43319561T>G, NG_011775.4:g.57572T>G, NM_015865.7:c.880T>G, NM_015865.6:c.880T>G, NM_001128588.4:c.1048T>G, NM_001128588.3:c.1048T>G, NM_001146036.3:c.880T>G, NM_001146036.2:c.880T>G, NM_001308278.2:c.565T>G, NM_001308278.1:c.565T>G, NM_001308279.2:c.484T>G, NM_001308279.1:c.484T>G, NM_001146037.1:c.1048T>G, XM_006722526.4:c.985T>G, XM_006722526.3:c.985T>G, XM_006722526.2:c.985T>G, XM_006722526.1:c.985T>G, XM_011526142.2:c.985T>G, XM_011526142.1:c.985T>G, XM_005258333.2:c.484T>G, XM_005258333.1:c.484T>G, XM_005258329.2:c.1048T>G, XM_005258329.1:c.1048T>G, XM_011526144.2:c.1048T>G, XM_011526144.1:c.1048T>G, XM_047437758.1:c.985T>G, XM_047437759.1:c.1048T>G, NP_056949.4:p.Cys294Gly, NP_001122060.3:p.Cys350Gly, NP_001139508.2:p.Cys294Gly, NP_001295207.1:p.Cys189Gly, NP_001295208.1:p.Cys162Gly, NP_001139509.1:p.Cys350Gly, XP_006722589.1:p.Cys329Gly, XP_011524444.1:p.Cys329Gly, XP_005258390.1:p.Cys162Gly, XP_005258386.1:p.Cys350Gly, XP_011524446.1:p.Cys350Gly, XP_047293714.1:p.Cys329Gly, XP_047293715.1:p.Cys350Gly

                              15.

                              rs1449549100 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                18:45736634 (GRCh38)
                                18:43316599 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:45736633:C:T
                                Gene:
                                SLC14A1 (Varview), LOC105372093 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000018.10:g.45736634C>T, NC_000018.9:g.43316599C>T, NG_011775.4:g.54610C>T, NM_015865.7:c.649C>T, NM_015865.6:c.649C>T, NM_001128588.4:c.817C>T, NM_001128588.3:c.817C>T, NM_001146036.3:c.649C>T, NM_001146036.2:c.649C>T, NM_001308278.2:c.334C>T, NM_001308278.1:c.334C>T, NM_001308279.2:c.253C>T, NM_001308279.1:c.253C>T, NM_001146037.1:c.817C>T, XM_006722526.4:c.754C>T, XM_006722526.3:c.754C>T, XM_006722526.2:c.754C>T, XM_006722526.1:c.754C>T, XM_011526142.2:c.754C>T, XM_011526142.1:c.754C>T, XM_005258333.2:c.253C>T, XM_005258333.1:c.253C>T, XM_005258329.2:c.817C>T, XM_005258329.1:c.817C>T, XM_011526144.2:c.817C>T, XM_011526144.1:c.817C>T, XM_047437758.1:c.754C>T, XM_047437759.1:c.817C>T, NP_056949.4:p.Leu217Phe, NP_001122060.3:p.Leu273Phe, NP_001139508.2:p.Leu217Phe, NP_001295207.1:p.Leu112Phe, NP_001295208.1:p.Leu85Phe, NP_001139509.1:p.Leu273Phe, XP_006722589.1:p.Leu252Phe, XP_011524444.1:p.Leu252Phe, XP_005258390.1:p.Leu85Phe, XP_005258386.1:p.Leu273Phe, XP_011524446.1:p.Leu273Phe, XP_047293714.1:p.Leu252Phe, XP_047293715.1:p.Leu273Phe

                                16.

                                rs1444093504 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  18:45739572 (GRCh38)
                                  18:43319537 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:45739571:T:
                                  Gene:
                                  SLC14A1 (Varview), LOC105372093 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000018.10:g.45739572del, NC_000018.9:g.43319537del, NG_011775.4:g.57548del, NM_015865.7:c.856del, NM_015865.6:c.856del, NM_001128588.4:c.1024del, NM_001128588.3:c.1024del, NM_001146036.3:c.856del, NM_001146036.2:c.856del, NM_001308278.2:c.541del, NM_001308278.1:c.541del, NM_001308279.2:c.460del, NM_001308279.1:c.460del, NM_001146037.1:c.1024del, XM_006722526.4:c.961del, XM_006722526.3:c.961del, XM_006722526.2:c.961del, XM_006722526.1:c.961del, XM_011526142.2:c.961del, XM_011526142.1:c.961del, XM_005258333.2:c.460del, XM_005258333.1:c.460del, XM_005258329.2:c.1024del, XM_005258329.1:c.1024del, XM_011526144.2:c.1024del, XM_011526144.1:c.1024del, XM_047437758.1:c.961del, XM_047437759.1:c.1024del, NP_056949.4:p.Trp286fs, NP_001122060.3:p.Trp342fs, NP_001139508.2:p.Trp286fs, NP_001295207.1:p.Trp181fs, NP_001295208.1:p.Trp154fs, NP_001139509.1:p.Trp342fs, XP_006722589.1:p.Trp321fs, XP_011524444.1:p.Trp321fs, XP_005258390.1:p.Trp154fs, XP_005258386.1:p.Trp342fs, XP_011524446.1:p.Trp342fs, XP_047293714.1:p.Trp321fs, XP_047293715.1:p.Trp342fs

                                  17.

                                  rs1442650884 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    18:45749868 (GRCh38)
                                    18:43329833 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:45749867:C:A,NC_000018.10:45749867:C:T
                                    Gene:
                                    SLC14A1 (Varview), LOC105372093 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000018.10:g.45749868C>A, NC_000018.10:g.45749868C>T, NC_000018.9:g.43329833C>A, NC_000018.9:g.43329833C>T, NG_011775.4:g.67844C>A, NG_011775.4:g.67844C>T, NM_015865.7:c.1087C>A, NM_015865.7:c.1087C>T, NM_015865.6:c.1087C>A, NM_015865.6:c.1087C>T, NM_001128588.4:c.1255C>A, NM_001128588.4:c.1255C>T, NM_001128588.3:c.1255C>A, NM_001128588.3:c.1255C>T, NM_001146036.3:c.1087C>A, NM_001146036.3:c.1087C>T, NM_001146036.2:c.1087C>A, NM_001146036.2:c.1087C>T, NM_001308278.2:c.772C>A, NM_001308278.2:c.772C>T, NM_001308278.1:c.772C>A, NM_001308278.1:c.772C>T, NM_001308279.2:c.691C>A, NM_001308279.2:c.691C>T, NM_001308279.1:c.691C>A, NM_001308279.1:c.691C>T, NM_001146037.1:c.1255C>A, NM_001146037.1:c.1255C>T, XM_006722526.4:c.1192C>A, XM_006722526.4:c.1192C>T, XM_006722526.3:c.1192C>A, XM_006722526.3:c.1192C>T, XM_006722526.2:c.1192C>A, XM_006722526.2:c.1192C>T, XM_006722526.1:c.1192C>A, XM_006722526.1:c.1192C>T, XM_011526142.2:c.1192C>A, XM_011526142.2:c.1192C>T, XM_011526142.1:c.1192C>A, XM_011526142.1:c.1192C>T, XM_005258333.2:c.691C>A, XM_005258333.2:c.691C>T, XM_005258333.1:c.691C>A, XM_005258333.1:c.691C>T, XM_047437758.1:c.1192C>A, XM_047437758.1:c.1192C>T, NP_056949.4:p.Pro363Thr, NP_056949.4:p.Pro363Ser, NP_001122060.3:p.Pro419Thr, NP_001122060.3:p.Pro419Ser, NP_001139508.2:p.Pro363Thr, NP_001139508.2:p.Pro363Ser, NP_001295207.1:p.Pro258Thr, NP_001295207.1:p.Pro258Ser, NP_001295208.1:p.Pro231Thr, NP_001295208.1:p.Pro231Ser, NP_001139509.1:p.Pro419Thr, NP_001139509.1:p.Pro419Ser, XP_006722589.1:p.Pro398Thr, XP_006722589.1:p.Pro398Ser, XP_011524444.1:p.Pro398Thr, XP_011524444.1:p.Pro398Ser, XP_005258390.1:p.Pro231Thr, XP_005258390.1:p.Pro231Ser, XP_047293714.1:p.Pro398Thr, XP_047293714.1:p.Pro398Ser

                                    18.

                                    rs1436983981 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      18:45739200 (GRCh38)
                                      18:43319165 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:45739199:A:C,NC_000018.10:45739199:A:G
                                      Gene:
                                      SLC14A1 (Varview), LOC105372093 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000018.10:g.45739200A>C, NC_000018.10:g.45739200A>G, NC_000018.9:g.43319165A>C, NC_000018.9:g.43319165A>G, NG_011775.4:g.57176A>C, NG_011775.4:g.57176A>G, NM_015865.7:c.701A>C, NM_015865.7:c.701A>G, NM_015865.6:c.701A>C, NM_015865.6:c.701A>G, NM_001128588.4:c.869A>C, NM_001128588.4:c.869A>G, NM_001128588.3:c.869A>C, NM_001128588.3:c.869A>G, NM_001146036.3:c.701A>C, NM_001146036.3:c.701A>G, NM_001146036.2:c.701A>C, NM_001146036.2:c.701A>G, NM_001308278.2:c.386A>C, NM_001308278.2:c.386A>G, NM_001308278.1:c.386A>C, NM_001308278.1:c.386A>G, NM_001308279.2:c.305A>C, NM_001308279.2:c.305A>G, NM_001308279.1:c.305A>C, NM_001308279.1:c.305A>G, NM_001146037.1:c.869A>C, NM_001146037.1:c.869A>G, XM_006722526.4:c.806A>C, XM_006722526.4:c.806A>G, XM_006722526.3:c.806A>C, XM_006722526.3:c.806A>G, XM_006722526.2:c.806A>C, XM_006722526.2:c.806A>G, XM_006722526.1:c.806A>C, XM_006722526.1:c.806A>G, XM_011526142.2:c.806A>C, XM_011526142.2:c.806A>G, XM_011526142.1:c.806A>C, XM_011526142.1:c.806A>G, XM_005258333.2:c.305A>C, XM_005258333.2:c.305A>G, XM_005258333.1:c.305A>C, XM_005258333.1:c.305A>G, XM_005258329.2:c.869A>C, XM_005258329.2:c.869A>G, XM_005258329.1:c.869A>C, XM_005258329.1:c.869A>G, XM_011526144.2:c.869A>C, XM_011526144.2:c.869A>G, XM_011526144.1:c.869A>C, XM_011526144.1:c.869A>G, XM_047437758.1:c.806A>C, XM_047437758.1:c.806A>G, XM_047437759.1:c.869A>C, XM_047437759.1:c.869A>G, NP_056949.4:p.Tyr234Ser, NP_056949.4:p.Tyr234Cys, NP_001122060.3:p.Tyr290Ser, NP_001122060.3:p.Tyr290Cys, NP_001139508.2:p.Tyr234Ser, NP_001139508.2:p.Tyr234Cys, NP_001295207.1:p.Tyr129Ser, NP_001295207.1:p.Tyr129Cys, NP_001295208.1:p.Tyr102Ser, NP_001295208.1:p.Tyr102Cys, NP_001139509.1:p.Tyr290Ser, NP_001139509.1:p.Tyr290Cys, XP_006722589.1:p.Tyr269Ser, XP_006722589.1:p.Tyr269Cys, XP_011524444.1:p.Tyr269Ser, XP_011524444.1:p.Tyr269Cys, XP_005258390.1:p.Tyr102Ser, XP_005258390.1:p.Tyr102Cys, XP_005258386.1:p.Tyr290Ser, XP_005258386.1:p.Tyr290Cys, XP_011524446.1:p.Tyr290Ser, XP_011524446.1:p.Tyr290Cys, XP_047293714.1:p.Tyr269Ser, XP_047293714.1:p.Tyr269Cys, XP_047293715.1:p.Tyr290Ser, XP_047293715.1:p.Tyr290Cys

                                      19.

                                      rs1432855271 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        18:45739624 (GRCh38)
                                        18:43319589 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:45739623:C:A,NC_000018.10:45739623:C:T
                                        Gene:
                                        SLC14A1 (Varview), LOC105372093 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000018.10:g.45739624C>A, NC_000018.10:g.45739624C>T, NC_000018.9:g.43319589C>A, NC_000018.9:g.43319589C>T, NG_011775.4:g.57600C>A, NG_011775.4:g.57600C>T, NM_015865.7:c.908C>A, NM_015865.7:c.908C>T, NM_015865.6:c.908C>A, NM_015865.6:c.908C>T, NM_001128588.4:c.1076C>A, NM_001128588.4:c.1076C>T, NM_001128588.3:c.1076C>A, NM_001128588.3:c.1076C>T, NM_001146036.3:c.908C>A, NM_001146036.3:c.908C>T, NM_001146036.2:c.908C>A, NM_001146036.2:c.908C>T, NM_001308278.2:c.593C>A, NM_001308278.2:c.593C>T, NM_001308278.1:c.593C>A, NM_001308278.1:c.593C>T, NM_001308279.2:c.512C>A, NM_001308279.2:c.512C>T, NM_001308279.1:c.512C>A, NM_001308279.1:c.512C>T, NM_001146037.1:c.1076C>A, NM_001146037.1:c.1076C>T, XM_006722526.4:c.1013C>A, XM_006722526.4:c.1013C>T, XM_006722526.3:c.1013C>A, XM_006722526.3:c.1013C>T, XM_006722526.2:c.1013C>A, XM_006722526.2:c.1013C>T, XM_006722526.1:c.1013C>A, XM_006722526.1:c.1013C>T, XM_011526142.2:c.1013C>A, XM_011526142.2:c.1013C>T, XM_011526142.1:c.1013C>A, XM_011526142.1:c.1013C>T, XM_005258333.2:c.512C>A, XM_005258333.2:c.512C>T, XM_005258333.1:c.512C>A, XM_005258333.1:c.512C>T, XM_005258329.2:c.1076C>A, XM_005258329.2:c.1076C>T, XM_005258329.1:c.1076C>A, XM_005258329.1:c.1076C>T, XM_011526144.2:c.1076C>A, XM_011526144.2:c.1076C>T, XM_011526144.1:c.1076C>A, XM_011526144.1:c.1076C>T, XM_047437758.1:c.1013C>A, XM_047437758.1:c.1013C>T, XM_047437759.1:c.1076C>A, XM_047437759.1:c.1076C>T, NP_056949.4:p.Ala303Glu, NP_056949.4:p.Ala303Val, NP_001122060.3:p.Ala359Glu, NP_001122060.3:p.Ala359Val, NP_001139508.2:p.Ala303Glu, NP_001139508.2:p.Ala303Val, NP_001295207.1:p.Ala198Glu, NP_001295207.1:p.Ala198Val, NP_001295208.1:p.Ala171Glu, NP_001295208.1:p.Ala171Val, NP_001139509.1:p.Ala359Glu, NP_001139509.1:p.Ala359Val, XP_006722589.1:p.Ala338Glu, XP_006722589.1:p.Ala338Val, XP_011524444.1:p.Ala338Glu, XP_011524444.1:p.Ala338Val, XP_005258390.1:p.Ala171Glu, XP_005258390.1:p.Ala171Val, XP_005258386.1:p.Ala359Glu, XP_005258386.1:p.Ala359Val, XP_011524446.1:p.Ala359Glu, XP_011524446.1:p.Ala359Val, XP_047293714.1:p.Ala338Glu, XP_047293714.1:p.Ala338Val, XP_047293715.1:p.Ala359Glu, XP_047293715.1:p.Ala359Val

                                        20.

                                        rs1432656598 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          18:45736544 (GRCh38)
                                          18:43316509 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:45736543:T:C
                                          Gene:
                                          SLC14A1 (Varview), LOC105372093 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000018.10:g.45736544T>C, NC_000018.9:g.43316509T>C, NG_011775.4:g.54520T>C, NM_015865.7:c.559T>C, NM_015865.6:c.559T>C, NM_001128588.4:c.727T>C, NM_001128588.3:c.727T>C, NM_001146036.3:c.559T>C, NM_001146036.2:c.559T>C, NM_001308278.2:c.244T>C, NM_001308278.1:c.244T>C, NM_001308279.2:c.163T>C, NM_001308279.1:c.163T>C, NM_001146037.1:c.727T>C, XM_006722526.4:c.664T>C, XM_006722526.3:c.664T>C, XM_006722526.2:c.664T>C, XM_006722526.1:c.664T>C, XM_011526142.2:c.664T>C, XM_011526142.1:c.664T>C, XM_005258333.2:c.163T>C, XM_005258333.1:c.163T>C, XM_005258329.2:c.727T>C, XM_005258329.1:c.727T>C, XM_011526144.2:c.727T>C, XM_011526144.1:c.727T>C, XM_047437758.1:c.664T>C, XM_047437759.1:c.727T>C, NP_056949.4:p.Tyr187His, NP_001122060.3:p.Tyr243His, NP_001139508.2:p.Tyr187His, NP_001295207.1:p.Tyr82His, NP_001295208.1:p.Tyr55His, NP_001139509.1:p.Tyr243His, XP_006722589.1:p.Tyr222His, XP_011524444.1:p.Tyr222His, XP_005258390.1:p.Tyr55His, XP_005258386.1:p.Tyr243His, XP_011524446.1:p.Tyr243His, XP_047293714.1:p.Tyr222His, XP_047293715.1:p.Tyr243His

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