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Items: 1 to 20 of 461

1.

rs1490397626 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:25779062 (GRCh38)
    6:25779290 (GRCh37)
    Canonical SPDI:
    NC_000006.12:25779061:G:A
    Gene:
    SLC17A1 (Varview), SLC17A4 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000224/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000223/1 (Estonian)
    HGVS:

    2.

    rs1487036583 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      6:25770947 (GRCh38)
      6:25771175 (GRCh37)
      Canonical SPDI:
      NC_000006.12:25770946:T:G
      Gene:
      SLC17A1 (Varview), SLC17A4 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.25770947T>G, NC_000006.11:g.25771175T>G, NM_005495.3:c.641T>G, NM_005495.2:c.641T>G, XM_011514218.3:c.17T>G, XM_011514218.2:c.17T>G, XM_011514218.1:c.17T>G, XM_024446294.2:c.641T>G, XM_024446294.1:c.641T>G, XM_024446295.2:c.641T>G, XM_024446295.1:c.641T>G, XM_024446296.2:c.641T>G, XM_024446296.1:c.641T>G, XM_011514211.2:c.479T>G, XM_011514211.1:c.479T>G, XM_047418034.1:c.641T>G, XM_047418033.1:c.641T>G, NM_001286121.1:c.479T>G, XM_047418035.1:c.407T>G, XM_047418037.1:c.641T>G, XR_007059192.1:n.868T>G, XR_007059193.1:n.868T>G, XM_047418038.1:c.641T>G, XR_007059194.1:n.868T>G, XM_047418036.1:c.641T>G, XM_047418041.1:c.641T>G, NP_005486.1:p.Ile214Ser, XP_011512520.1:p.Ile6Ser, XP_024302062.1:p.Ile214Ser, XP_024302063.1:p.Ile214Ser, XP_024302064.1:p.Ile214Ser, XP_011512513.1:p.Ile160Ser, XP_047273990.1:p.Ile214Ser, XP_047273989.1:p.Ile214Ser, NP_001273050.1:p.Ile160Ser, XP_047273991.1:p.Ile136Ser, XP_047273993.1:p.Ile214Ser, XP_047273994.1:p.Ile214Ser, XP_047273992.1:p.Ile214Ser, XP_047273997.1:p.Ile214Ser

      3.

      rs1486958144 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        6:25776813 (GRCh38)
        6:25777041 (GRCh37)
        Canonical SPDI:
        NC_000006.12:25776812:G:T
        Gene:
        SLC17A1 (Varview), SLC17A4 (Varview)
        Functional Consequence:
        coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (GnomAD_exomes)
        T=0.000015/4 (TOPMED)
        T=0.000036/5 (GnomAD)
        HGVS:

        4.

        rs1482203503 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:25770072 (GRCh38)
          6:25770300 (GRCh37)
          Canonical SPDI:
          NC_000006.12:25770071:T:C
          Gene:
          SLC17A1 (Varview), SLC17A4 (Varview)
          Functional Consequence:
          coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1481563669 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:25773278 (GRCh38)
            6:25773506 (GRCh37)
            Canonical SPDI:
            NC_000006.12:25773277:G:A
            Gene:
            SLC17A1 (Varview), SLC17A4 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.25773278G>A, NC_000006.11:g.25773506G>A, NM_005495.3:c.710G>A, NM_005495.2:c.710G>A, XM_011514218.3:c.86G>A, XM_011514218.2:c.86G>A, XM_011514218.1:c.86G>A, XM_024446294.2:c.710G>A, XM_024446294.1:c.710G>A, XM_024446295.2:c.710G>A, XM_024446295.1:c.710G>A, XM_024446296.2:c.710G>A, XM_024446296.1:c.710G>A, XM_011514211.2:c.548G>A, XM_011514211.1:c.548G>A, XM_047418034.1:c.710G>A, XM_047418033.1:c.710G>A, NM_001286121.1:c.548G>A, XM_047418035.1:c.476G>A, XM_047418037.1:c.710G>A, XR_007059192.1:n.937G>A, XR_007059193.1:n.937G>A, XM_047418038.1:c.710G>A, XR_007059194.1:n.937G>A, XM_047418036.1:c.710G>A, NP_005486.1:p.Gly237Glu, XP_011512520.1:p.Gly29Glu, XP_024302062.1:p.Gly237Glu, XP_024302063.1:p.Gly237Glu, XP_024302064.1:p.Gly237Glu, XP_011512513.1:p.Gly183Glu, XP_047273990.1:p.Gly237Glu, XP_047273989.1:p.Gly237Glu, NP_001273050.1:p.Gly183Glu, XP_047273991.1:p.Gly159Glu, XP_047273993.1:p.Gly237Glu, XP_047273994.1:p.Gly237Glu, XP_047273992.1:p.Gly237Glu

            6.

            rs1481170528 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:25770264 (GRCh38)
              6:25770492 (GRCh37)
              Canonical SPDI:
              NC_000006.12:25770263:G:A
              Gene:
              SLC17A1 (Varview), SLC17A4 (Varview)
              Functional Consequence:
              coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
              HGVS:

              7.

              rs1475508156 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:25770202 (GRCh38)
                6:25770430 (GRCh37)
                Canonical SPDI:
                NC_000006.12:25770201:T:C
                Gene:
                SLC17A1 (Varview), SLC17A4 (Varview)
                Functional Consequence:
                coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000028/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1471361235 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:25779096 (GRCh38)
                  6:25779324 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:25779095:G:A
                  Gene:
                  SLC17A1 (Varview), SLC17A4 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.25779096G>A, NC_000006.11:g.25779324G>A, NM_005495.3:c.1402G>A, NM_005495.2:c.1402G>A, XM_011514218.3:c.778G>A, XM_011514218.2:c.778G>A, XM_011514218.1:c.778G>A, XM_011514219.3:c.712G>A, XM_011514219.2:c.712G>A, XM_011514219.1:c.712G>A, XM_024446294.2:c.1402G>A, XM_024446294.1:c.1402G>A, XM_024446295.2:c.1402G>A, XM_024446295.1:c.1402G>A, XM_024446296.2:c.1402G>A, XM_024446296.1:c.1402G>A, XM_011514211.2:c.1240G>A, XM_011514211.1:c.1240G>A, XM_047418034.1:c.1402G>A, XM_047418033.1:c.1402G>A, NM_001286121.1:c.1240G>A, XM_047418035.1:c.1168G>A, XM_047418037.1:c.1121G>A, XM_047418039.1:c.874G>A, XM_047418040.1:c.712G>A, NP_005486.1:p.Ala468Thr, XP_011512520.1:p.Ala260Thr, XP_011512521.1:p.Ala238Thr, XP_024302062.1:p.Ala468Thr, XP_024302063.1:p.Ala468Thr, XP_024302064.1:p.Ala468Thr, XP_011512513.1:p.Ala414Thr, XP_047273990.1:p.Ala468Thr, XP_047273989.1:p.Ala468Thr, NP_001273050.1:p.Ala414Thr, XP_047273991.1:p.Ala390Thr, XP_047273993.1:p.Cys374Tyr, XP_047273995.1:p.Ala292Thr, XP_047273996.1:p.Ala238Thr

                  9.

                  rs1470498946 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    6:25776885 (GRCh38)
                    6:25777113 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:25776884:C:A,NC_000006.12:25776884:C:T
                    Gene:
                    SLC17A1 (Varview), SLC17A4 (Varview)
                    Functional Consequence:
                    missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    T=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000006.12:g.25776885C>A, NC_000006.12:g.25776885C>T, NC_000006.11:g.25777113C>A, NC_000006.11:g.25777113C>T, NM_005495.3:c.1194C>A, NM_005495.3:c.1194C>T, NM_005495.2:c.1194C>A, NM_005495.2:c.1194C>T, XM_011514218.3:c.570C>A, XM_011514218.3:c.570C>T, XM_011514218.2:c.570C>A, XM_011514218.2:c.570C>T, XM_011514218.1:c.570C>A, XM_011514218.1:c.570C>T, XM_011514219.3:c.504C>A, XM_011514219.3:c.504C>T, XM_011514219.2:c.504C>A, XM_011514219.2:c.504C>T, XM_011514219.1:c.504C>A, XM_011514219.1:c.504C>T, XM_024446294.2:c.1194C>A, XM_024446294.2:c.1194C>T, XM_024446294.1:c.1194C>A, XM_024446294.1:c.1194C>T, XM_024446295.2:c.1194C>A, XM_024446295.2:c.1194C>T, XM_024446295.1:c.1194C>A, XM_024446295.1:c.1194C>T, XM_024446296.2:c.1194C>A, XM_024446296.2:c.1194C>T, XM_024446296.1:c.1194C>A, XM_024446296.1:c.1194C>T, XM_011514211.2:c.1032C>A, XM_011514211.2:c.1032C>T, XM_011514211.1:c.1032C>A, XM_011514211.1:c.1032C>T, XM_047418034.1:c.1194C>A, XM_047418034.1:c.1194C>T, XM_047418033.1:c.1194C>A, XM_047418033.1:c.1194C>T, NM_001286121.1:c.1032C>A, NM_001286121.1:c.1032C>T, XM_047418035.1:c.960C>A, XM_047418035.1:c.960C>T, XM_047418039.1:c.666C>A, XM_047418039.1:c.666C>T, XM_047418040.1:c.504C>A, XM_047418040.1:c.504C>T, XR_007059192.1:n.1421C>A, XR_007059192.1:n.1421C>T, XR_007059193.1:n.1421C>A, XR_007059193.1:n.1421C>T, NP_005486.1:p.Phe398Leu, XP_011512520.1:p.Phe190Leu, XP_011512521.1:p.Phe168Leu, XP_024302062.1:p.Phe398Leu, XP_024302063.1:p.Phe398Leu, XP_024302064.1:p.Phe398Leu, XP_011512513.1:p.Phe344Leu, XP_047273990.1:p.Phe398Leu, XP_047273989.1:p.Phe398Leu, NP_001273050.1:p.Phe344Leu, XP_047273991.1:p.Phe320Leu, XP_047273995.1:p.Phe222Leu, XP_047273996.1:p.Phe168Leu

                    10.

                    rs1466780601 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      6:25773671 (GRCh38)
                      6:25773900 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:25773671:G:GG
                      Gene:
                      SLC17A1 (Varview), SLC17A4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GG=0./0 (ALFA)
                      HGVS:
                      NC_000006.12:g.25773672dup, NC_000006.11:g.25773900dup, NM_005495.3:c.985dup, NM_005495.2:c.985dup, XM_011514218.3:c.361dup, XM_011514218.2:c.361dup, XM_011514218.1:c.361dup, XM_024446294.2:c.985dup, XM_024446294.1:c.985dup, XM_024446295.2:c.985dup, XM_024446295.1:c.985dup, XM_024446296.2:c.985dup, XM_024446296.1:c.985dup, XM_011514211.2:c.823dup, XM_011514211.1:c.823dup, XM_047418034.1:c.985dup, XM_047418033.1:c.985dup, NM_001286121.1:c.823dup, XM_047418035.1:c.751dup, XM_047418037.1:c.985dup, XM_047418039.1:c.457dup, XR_007059192.1:n.1212dup, XR_007059193.1:n.1212dup, XM_047418038.1:c.985dup, XR_007059194.1:n.1212dup, XM_047418036.1:c.985dup, NP_005486.1:p.Asp329fs, XP_011512520.1:p.Asp121fs, XP_024302062.1:p.Asp329fs, XP_024302063.1:p.Asp329fs, XP_024302064.1:p.Asp329fs, XP_011512513.1:p.Asp275fs, XP_047273990.1:p.Asp329fs, XP_047273989.1:p.Asp329fs, NP_001273050.1:p.Asp275fs, XP_047273991.1:p.Asp251fs, XP_047273993.1:p.Asp329fs, XP_047273995.1:p.Asp153fs, XP_047273994.1:p.Asp329fs, XP_047273992.1:p.Asp329fs

                      11.

                      rs1464323222 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        6:25770196 (GRCh38)
                        6:25770424 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:25770195:G:T
                        Gene:
                        SLC17A1 (Varview), SLC17A4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0./0 (GnomAD)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000006.12:g.25770196G>T, NC_000006.11:g.25770424G>T, NM_005495.3:c.427G>T, NM_005495.2:c.427G>T, XM_024446294.2:c.427G>T, XM_024446294.1:c.427G>T, XM_024446295.2:c.427G>T, XM_024446295.1:c.427G>T, XM_024446296.2:c.427G>T, XM_024446296.1:c.427G>T, XM_011514211.2:c.265G>T, XM_011514211.1:c.265G>T, XM_047418034.1:c.427G>T, XM_047418033.1:c.427G>T, NM_001286121.1:c.265G>T, XM_047418037.1:c.427G>T, XR_007059192.1:n.654G>T, XR_007059193.1:n.654G>T, XM_047418038.1:c.427G>T, XR_007059194.1:n.654G>T, XM_047418036.1:c.427G>T, XM_047418041.1:c.427G>T, NP_005486.1:p.Ala143Ser, XP_024302062.1:p.Ala143Ser, XP_024302063.1:p.Ala143Ser, XP_024302064.1:p.Ala143Ser, XP_011512513.1:p.Ala89Ser, XP_047273990.1:p.Ala143Ser, XP_047273989.1:p.Ala143Ser, NP_001273050.1:p.Ala89Ser, XP_047273993.1:p.Ala143Ser, XP_047273994.1:p.Ala143Ser, XP_047273992.1:p.Ala143Ser, XP_047273997.1:p.Ala143Ser

                        12.

                        rs1457078376 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:25776831 (GRCh38)
                          6:25777059 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:25776830:G:A
                          Gene:
                          SLC17A1 (Varview), SLC17A4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1455102526 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            6:25770980 (GRCh38)
                            6:25771208 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:25770979:C:G,NC_000006.12:25770979:C:T
                            Gene:
                            SLC17A1 (Varview), SLC17A4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.25770980C>G, NC_000006.12:g.25770980C>T, NC_000006.11:g.25771208C>G, NC_000006.11:g.25771208C>T, NM_005495.3:c.674C>G, NM_005495.3:c.674C>T, NM_005495.2:c.674C>G, NM_005495.2:c.674C>T, XM_011514218.3:c.50C>G, XM_011514218.3:c.50C>T, XM_011514218.2:c.50C>G, XM_011514218.2:c.50C>T, XM_011514218.1:c.50C>G, XM_011514218.1:c.50C>T, XM_024446294.2:c.674C>G, XM_024446294.2:c.674C>T, XM_024446294.1:c.674C>G, XM_024446294.1:c.674C>T, XM_024446295.2:c.674C>G, XM_024446295.2:c.674C>T, XM_024446295.1:c.674C>G, XM_024446295.1:c.674C>T, XM_024446296.2:c.674C>G, XM_024446296.2:c.674C>T, XM_024446296.1:c.674C>G, XM_024446296.1:c.674C>T, XM_011514211.2:c.512C>G, XM_011514211.2:c.512C>T, XM_011514211.1:c.512C>G, XM_011514211.1:c.512C>T, XM_047418034.1:c.674C>G, XM_047418034.1:c.674C>T, XM_047418033.1:c.674C>G, XM_047418033.1:c.674C>T, NM_001286121.1:c.512C>G, NM_001286121.1:c.512C>T, XM_047418035.1:c.440C>G, XM_047418035.1:c.440C>T, XM_047418037.1:c.674C>G, XM_047418037.1:c.674C>T, XR_007059192.1:n.901C>G, XR_007059192.1:n.901C>T, XR_007059193.1:n.901C>G, XR_007059193.1:n.901C>T, XM_047418038.1:c.674C>G, XM_047418038.1:c.674C>T, XR_007059194.1:n.901C>G, XR_007059194.1:n.901C>T, XM_047418036.1:c.674C>G, XM_047418036.1:c.674C>T, XM_047418041.1:c.674C>G, XM_047418041.1:c.674C>T, NP_005486.1:p.Thr225Ser, NP_005486.1:p.Thr225Ile, XP_011512520.1:p.Thr17Ser, XP_011512520.1:p.Thr17Ile, XP_024302062.1:p.Thr225Ser, XP_024302062.1:p.Thr225Ile, XP_024302063.1:p.Thr225Ser, XP_024302063.1:p.Thr225Ile, XP_024302064.1:p.Thr225Ser, XP_024302064.1:p.Thr225Ile, XP_011512513.1:p.Thr171Ser, XP_011512513.1:p.Thr171Ile, XP_047273990.1:p.Thr225Ser, XP_047273990.1:p.Thr225Ile, XP_047273989.1:p.Thr225Ser, XP_047273989.1:p.Thr225Ile, NP_001273050.1:p.Thr171Ser, NP_001273050.1:p.Thr171Ile, XP_047273991.1:p.Thr147Ser, XP_047273991.1:p.Thr147Ile, XP_047273993.1:p.Thr225Ser, XP_047273993.1:p.Thr225Ile, XP_047273994.1:p.Thr225Ser, XP_047273994.1:p.Thr225Ile, XP_047273992.1:p.Thr225Ser, XP_047273992.1:p.Thr225Ile, XP_047273997.1:p.Thr225Ser, XP_047273997.1:p.Thr225Ile

                            14.

                            rs1454856939 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              6:25773351 (GRCh38)
                              6:25773579 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:25773350:T:G
                              Gene:
                              SLC17A1 (Varview), SLC17A4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000006.12:g.25773351T>G, NC_000006.11:g.25773579T>G, NM_005495.3:c.783T>G, NM_005495.2:c.783T>G, XM_011514218.3:c.159T>G, XM_011514218.2:c.159T>G, XM_011514218.1:c.159T>G, XM_024446294.2:c.783T>G, XM_024446294.1:c.783T>G, XM_024446295.2:c.783T>G, XM_024446295.1:c.783T>G, XM_024446296.2:c.783T>G, XM_024446296.1:c.783T>G, XM_011514211.2:c.621T>G, XM_011514211.1:c.621T>G, XM_047418034.1:c.783T>G, XM_047418033.1:c.783T>G, NM_001286121.1:c.621T>G, XM_047418035.1:c.549T>G, XM_047418037.1:c.783T>G, XR_007059192.1:n.1010T>G, XR_007059193.1:n.1010T>G, XM_047418038.1:c.783T>G, XR_007059194.1:n.1010T>G, XM_047418036.1:c.783T>G, NP_005486.1:p.Ser261Arg, XP_011512520.1:p.Ser53Arg, XP_024302062.1:p.Ser261Arg, XP_024302063.1:p.Ser261Arg, XP_024302064.1:p.Ser261Arg, XP_011512513.1:p.Ser207Arg, XP_047273990.1:p.Ser261Arg, XP_047273989.1:p.Ser261Arg, NP_001273050.1:p.Ser207Arg, XP_047273991.1:p.Ser183Arg, XP_047273993.1:p.Ser261Arg, XP_047273994.1:p.Ser261Arg, XP_047273992.1:p.Ser261Arg

                              15.

                              rs1454017701 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                6:25776710 (GRCh38)
                                6:25776938 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:25776709:A:C
                                Gene:
                                SLC17A1 (Varview), SLC17A4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000006.12:g.25776710A>C, NC_000006.11:g.25776938A>C, NM_005495.3:c.1103A>C, NM_005495.2:c.1103A>C, XM_011514218.3:c.479A>C, XM_011514218.2:c.479A>C, XM_011514218.1:c.479A>C, XM_011514219.3:c.413A>C, XM_011514219.2:c.413A>C, XM_011514219.1:c.413A>C, XM_024446294.2:c.1103A>C, XM_024446294.1:c.1103A>C, XM_024446295.2:c.1103A>C, XM_024446295.1:c.1103A>C, XM_024446296.2:c.1103A>C, XM_024446296.1:c.1103A>C, XM_011514211.2:c.941A>C, XM_011514211.1:c.941A>C, XM_047418034.1:c.1103A>C, XM_047418033.1:c.1103A>C, NM_001286121.1:c.941A>C, XM_047418035.1:c.869A>C, XM_047418039.1:c.575A>C, XM_047418040.1:c.413A>C, XR_007059192.1:n.1330A>C, XR_007059193.1:n.1330A>C, XM_047418036.1:c.1103A>C, NP_005486.1:p.Lys368Thr, XP_011512520.1:p.Lys160Thr, XP_011512521.1:p.Lys138Thr, XP_024302062.1:p.Lys368Thr, XP_024302063.1:p.Lys368Thr, XP_024302064.1:p.Lys368Thr, XP_011512513.1:p.Lys314Thr, XP_047273990.1:p.Lys368Thr, XP_047273989.1:p.Lys368Thr, NP_001273050.1:p.Lys314Thr, XP_047273991.1:p.Lys290Thr, XP_047273995.1:p.Lys192Thr, XP_047273996.1:p.Lys138Thr, XP_047273992.1:p.Lys368Thr

                                16.

                                rs1450761659 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:25770108 (GRCh38)
                                  6:25770336 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:25770107:C:T
                                  Gene:
                                  SLC17A1 (Varview), SLC17A4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                  HGVS:

                                  17.

                                  rs1447330857 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:25770258 (GRCh38)
                                    6:25770486 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:25770257:G:A
                                    Gene:
                                    SLC17A1 (Varview), SLC17A4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1447197107 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:25773603 (GRCh38)
                                      6:25773831 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:25773602:T:C
                                      Gene:
                                      SLC17A1 (Varview), SLC17A4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.25773603T>C, NC_000006.11:g.25773831T>C, NM_005495.3:c.916T>C, NM_005495.2:c.916T>C, XM_011514218.3:c.292T>C, XM_011514218.2:c.292T>C, XM_011514218.1:c.292T>C, XM_024446294.2:c.916T>C, XM_024446294.1:c.916T>C, XM_024446295.2:c.916T>C, XM_024446295.1:c.916T>C, XM_024446296.2:c.916T>C, XM_024446296.1:c.916T>C, XM_011514211.2:c.754T>C, XM_011514211.1:c.754T>C, XM_047418034.1:c.916T>C, XM_047418033.1:c.916T>C, NM_001286121.1:c.754T>C, XM_047418035.1:c.682T>C, XM_047418037.1:c.916T>C, XM_047418039.1:c.388T>C, XR_007059192.1:n.1143T>C, XR_007059193.1:n.1143T>C, XM_047418038.1:c.916T>C, XR_007059194.1:n.1143T>C, XM_047418036.1:c.916T>C, NP_005486.1:p.Trp306Arg, XP_011512520.1:p.Trp98Arg, XP_024302062.1:p.Trp306Arg, XP_024302063.1:p.Trp306Arg, XP_024302064.1:p.Trp306Arg, XP_011512513.1:p.Trp252Arg, XP_047273990.1:p.Trp306Arg, XP_047273989.1:p.Trp306Arg, NP_001273050.1:p.Trp252Arg, XP_047273991.1:p.Trp228Arg, XP_047273993.1:p.Trp306Arg, XP_047273995.1:p.Trp130Arg, XP_047273994.1:p.Trp306Arg, XP_047273992.1:p.Trp306Arg

                                      19.

                                      rs1445593120 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:25770444 (GRCh38)
                                        6:25770672 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:25770443:A:G
                                        Gene:
                                        SLC17A1 (Varview), SLC17A4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (GnomAD_exomes)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.25770444A>G, NC_000006.11:g.25770672A>G, NM_005495.3:c.592A>G, NM_005495.2:c.592A>G, XM_024446294.2:c.592A>G, XM_024446294.1:c.592A>G, XM_024446295.2:c.592A>G, XM_024446295.1:c.592A>G, XM_024446296.2:c.592A>G, XM_024446296.1:c.592A>G, XM_011514211.2:c.430A>G, XM_011514211.1:c.430A>G, XM_047418034.1:c.592A>G, XM_047418033.1:c.592A>G, NM_001286121.1:c.430A>G, XM_047418035.1:c.358A>G, XM_047418037.1:c.592A>G, XR_007059192.1:n.819A>G, XR_007059193.1:n.819A>G, XM_047418038.1:c.592A>G, XR_007059194.1:n.819A>G, XM_047418036.1:c.592A>G, XM_047418041.1:c.592A>G, NP_005486.1:p.Ser198Gly, XP_024302062.1:p.Ser198Gly, XP_024302063.1:p.Ser198Gly, XP_024302064.1:p.Ser198Gly, XP_011512513.1:p.Ser144Gly, XP_047273990.1:p.Ser198Gly, XP_047273989.1:p.Ser198Gly, NP_001273050.1:p.Ser144Gly, XP_047273991.1:p.Ser120Gly, XP_047273993.1:p.Ser198Gly, XP_047273994.1:p.Ser198Gly, XP_047273992.1:p.Ser198Gly, XP_047273997.1:p.Ser198Gly

                                        20.

                                        rs1445530836 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:25769077 (GRCh38)
                                          6:25769305 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:25769076:C:T
                                          Gene:
                                          SLC17A1 (Varview), SLC17A4 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.25769077C>T, NC_000006.11:g.25769305C>T, NM_005495.3:c.184C>T, NM_005495.2:c.184C>T, XM_011514219.3:c.184C>T, XM_011514219.2:c.184C>T, XM_011514219.1:c.184C>T, XM_024446294.2:c.184C>T, XM_024446294.1:c.184C>T, XM_024446295.2:c.184C>T, XM_024446295.1:c.184C>T, XM_024446296.2:c.184C>T, XM_024446296.1:c.184C>T, XM_011514211.2:c.22C>T, XM_011514211.1:c.22C>T, XM_047418034.1:c.184C>T, XM_047418033.1:c.184C>T, NM_001286121.1:c.22C>T, XM_047418035.1:c.184C>T, XM_047418037.1:c.184C>T, XM_047418039.1:c.184C>T, XM_047418040.1:c.184C>T, XR_007059192.1:n.411C>T, XR_007059193.1:n.411C>T, XM_047418038.1:c.184C>T, XR_007059194.1:n.411C>T, XM_047418036.1:c.184C>T, XM_047418041.1:c.184C>T, NP_005486.1:p.Pro62Ser, XP_011512521.1:p.Pro62Ser, XP_024302062.1:p.Pro62Ser, XP_024302063.1:p.Pro62Ser, XP_024302064.1:p.Pro62Ser, XP_011512513.1:p.Pro8Ser, XP_047273990.1:p.Pro62Ser, XP_047273989.1:p.Pro62Ser, NP_001273050.1:p.Pro8Ser, XP_047273991.1:p.Pro62Ser, XP_047273993.1:p.Pro62Ser, XP_047273995.1:p.Pro62Ser, XP_047273996.1:p.Pro62Ser, XP_047273994.1:p.Pro62Ser, XP_047273992.1:p.Pro62Ser, XP_047273997.1:p.Pro62Ser

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