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Items: 1 to 20 of 553

1.

rs1490859797 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:28493783 (GRCh38)
    17:26820801 (GRCh37)
    Canonical SPDI:
    NC_000017.11:28493782:G:A
    Gene:
    SLC13A2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.28493783G>A, NC_000017.10:g.26820801G>A, NG_051960.1:g.25138G>A, NM_003984.4:c.1091G>A, NM_003984.3:c.1091G>A, NM_001346684.2:c.878G>A, NM_001346684.1:c.878G>A, NM_001145975.2:c.1238G>A, NM_001145975.1:c.1238G>A, NM_001346683.2:c.959G>A, NM_001346683.1:c.959G>A, NW_003871090.1:g.175644G>A, XM_011525450.4:c.1238G>A, XM_011525450.3:c.1238G>A, XM_011525450.2:c.1238G>A, XM_011525450.1:c.1238G>A, XM_011525454.4:c.1238G>A, XM_011525454.3:c.1238G>A, XM_011525454.2:c.1238G>A, XM_011525454.1:c.1238G>A, XM_011525452.2:c.1091G>A, XM_011525452.1:c.1091G>A, XM_047437011.1:c.1106G>A, NR_027384.1:n.1299G>A, NM_001145976.1:c.962G>A, NP_003975.1:p.Gly364Glu, NP_001333613.1:p.Gly293Glu, NP_001139447.1:p.Gly413Glu, NP_001333612.1:p.Gly320Glu, XP_011523752.1:p.Gly413Glu, XP_011523756.1:p.Gly413Glu, XP_011523754.1:p.Gly364Glu, XP_047292967.1:p.Gly369Glu

    2.

    rs1488673295 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:28495702 (GRCh38)
      17:26822720 (GRCh37)
      Canonical SPDI:
      NC_000017.11:28495701:G:A
      Gene:
      SLC13A2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1487606157 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:28494403 (GRCh38)
        17:26821421 (GRCh37)
        Canonical SPDI:
        NC_000017.11:28494402:A:G
        Gene:
        SLC13A2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000014/2 (GnomAD)
        G=0.000019/5 (TOPMED)
        HGVS:
        NC_000017.11:g.28494403A>G, NC_000017.10:g.26821421A>G, NG_051960.1:g.25758A>G, NM_003984.4:c.1199A>G, NM_003984.3:c.1199A>G, NM_001346684.2:c.986A>G, NM_001346684.1:c.986A>G, NM_001145975.2:c.1346A>G, NM_001145975.1:c.1346A>G, NM_001346683.2:c.1067A>G, NM_001346683.1:c.1067A>G, NW_003871090.1:g.176264A>G, XM_011525450.4:c.1349A>G, XM_011525450.3:c.1349A>G, XM_011525450.2:c.1349A>G, XM_011525450.1:c.1349A>G, XM_011525453.3:c.1130A>G, XM_011525453.2:c.1130A>G, XM_011525453.1:c.1130A>G, XM_011525452.2:c.1202A>G, XM_011525452.1:c.1202A>G, XM_047437011.1:c.1214A>G, NR_027384.1:n.1407A>G, NM_001145976.1:c.1070A>G, NP_003975.1:p.Lys400Arg, NP_001333613.1:p.Lys329Arg, NP_001139447.1:p.Lys449Arg, NP_001333612.1:p.Lys356Arg, XP_011523752.1:p.Lys450Arg, XP_011523755.1:p.Lys377Arg, XP_011523754.1:p.Lys401Arg, XP_047292967.1:p.Lys405Arg

        4.

        rs1487571469 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          17:28493670 (GRCh38)
          17:26820688 (GRCh37)
          Canonical SPDI:
          NC_000017.11:28493669:C:G,NC_000017.11:28493669:C:T
          Gene:
          SLC13A2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.28493670C>G, NC_000017.11:g.28493670C>T, NC_000017.10:g.26820688C>G, NC_000017.10:g.26820688C>T, NG_051960.1:g.25025C>G, NG_051960.1:g.25025C>T, NM_003984.4:c.978C>G, NM_003984.4:c.978C>T, NM_003984.3:c.978C>G, NM_003984.3:c.978C>T, NM_001346684.2:c.765C>G, NM_001346684.2:c.765C>T, NM_001346684.1:c.765C>G, NM_001346684.1:c.765C>T, NM_001145975.2:c.1125C>G, NM_001145975.2:c.1125C>T, NM_001145975.1:c.1125C>G, NM_001145975.1:c.1125C>T, NM_001346683.2:c.846C>G, NM_001346683.2:c.846C>T, NM_001346683.1:c.846C>G, NM_001346683.1:c.846C>T, NW_003871090.1:g.175531C>G, NW_003871090.1:g.175531C>T, XM_011525450.4:c.1125C>G, XM_011525450.4:c.1125C>T, XM_011525450.3:c.1125C>G, XM_011525450.3:c.1125C>T, XM_011525450.2:c.1125C>G, XM_011525450.2:c.1125C>T, XM_011525450.1:c.1125C>G, XM_011525450.1:c.1125C>T, XM_011525454.4:c.1125C>G, XM_011525454.4:c.1125C>T, XM_011525454.3:c.1125C>G, XM_011525454.3:c.1125C>T, XM_011525454.2:c.1125C>G, XM_011525454.2:c.1125C>T, XM_011525454.1:c.1125C>G, XM_011525454.1:c.1125C>T, XM_011525452.2:c.978C>G, XM_011525452.2:c.978C>T, XM_011525452.1:c.978C>G, XM_011525452.1:c.978C>T, XM_047437011.1:c.993C>G, XM_047437011.1:c.993C>T, NR_027384.1:n.1186C>G, NR_027384.1:n.1186C>T, NM_001145976.1:c.849C>G, NM_001145976.1:c.849C>T

          5.

          rs1486711258 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            17:28490390 (GRCh38)
            17:26817408 (GRCh37)
            Canonical SPDI:
            NC_000017.11:28490389:C:A,NC_000017.11:28490389:C:T
            Gene:
            SLC13A2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.00003/1 (ALFA)
            HGVS:
            NC_000017.11:g.28490390C>A, NC_000017.11:g.28490390C>T, NC_000017.10:g.26817408C>A, NC_000017.10:g.26817408C>T, NG_051960.1:g.21745C>A, NG_051960.1:g.21745C>T, NM_001145975.2:c.315C>A, NM_001145975.2:c.315C>T, NM_001145975.1:c.315C>A, NM_001145975.1:c.315C>T, NW_003871090.1:g.172251C>A, NW_003871090.1:g.172251C>T, XM_011525450.4:c.315C>A, XM_011525450.4:c.315C>T, XM_011525450.3:c.315C>A, XM_011525450.3:c.315C>T, XM_011525450.2:c.315C>A, XM_011525450.2:c.315C>T, XM_011525450.1:c.315C>A, XM_011525450.1:c.315C>T, XM_011525454.4:c.315C>A, XM_011525454.4:c.315C>T, XM_011525454.3:c.315C>A, XM_011525454.3:c.315C>T, XM_011525454.2:c.315C>A, XM_011525454.2:c.315C>T, XM_011525454.1:c.315C>A, XM_011525454.1:c.315C>T, XM_011525453.3:c.315C>A, XM_011525453.3:c.315C>T, XM_011525453.2:c.315C>A, XM_011525453.2:c.315C>T, XM_011525453.1:c.315C>A, XM_011525453.1:c.315C>T, XM_047437011.1:c.183C>A, XM_047437011.1:c.183C>T, NP_001139447.1:p.Asn105Lys, XP_011523752.1:p.Asn105Lys, XP_011523756.1:p.Asn105Lys, XP_011523755.1:p.Asn105Lys, XP_047292967.1:p.Asn61Lys

            6.

            rs1485766801 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:28490478 (GRCh38)
              17:26817496 (GRCh37)
              Canonical SPDI:
              NC_000017.11:28490477:T:C
              Gene:
              SLC13A2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000017.11:g.28490478T>C, NC_000017.10:g.26817496T>C, NG_051960.1:g.21833T>C, NM_003984.4:c.256T>C, NM_003984.3:c.256T>C, NM_001346684.2:c.43T>C, NM_001346684.1:c.43T>C, NM_001145975.2:c.403T>C, NM_001145975.1:c.403T>C, NM_001346683.2:c.124T>C, NM_001346683.1:c.124T>C, NW_003871090.1:g.172339T>C, XM_011525450.4:c.403T>C, XM_011525450.3:c.403T>C, XM_011525450.2:c.403T>C, XM_011525450.1:c.403T>C, XM_011525454.4:c.403T>C, XM_011525454.3:c.403T>C, XM_011525454.2:c.403T>C, XM_011525454.1:c.403T>C, XM_011525453.3:c.403T>C, XM_011525453.2:c.403T>C, XM_011525453.1:c.403T>C, XM_011525452.2:c.256T>C, XM_011525452.1:c.256T>C, XM_047437011.1:c.271T>C, NR_027384.1:n.464T>C, NM_001145976.1:c.127T>C, NP_003975.1:p.Ser86Pro, NP_001333613.1:p.Ser15Pro, NP_001139447.1:p.Ser135Pro, NP_001333612.1:p.Ser42Pro, XP_011523752.1:p.Ser135Pro, XP_011523756.1:p.Ser135Pro, XP_011523755.1:p.Ser135Pro, XP_011523754.1:p.Ser86Pro, XP_047292967.1:p.Ser91Pro

              7.

              rs1485379916 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:28491755 (GRCh38)
                17:26818773 (GRCh37)
                Canonical SPDI:
                NC_000017.11:28491754:G:A
                Gene:
                SLC13A2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000028/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000017.11:g.28491755G>A, NC_000017.10:g.26818773G>A, NG_051960.1:g.23110G>A, NM_003984.4:c.781G>A, NM_003984.3:c.781G>A, NM_001346684.2:c.568G>A, NM_001346684.1:c.568G>A, NM_001145975.2:c.928G>A, NM_001145975.1:c.928G>A, NM_001346683.2:c.649G>A, NM_001346683.1:c.649G>A, NW_003871090.1:g.173616G>A, XM_011525450.4:c.928G>A, XM_011525450.3:c.928G>A, XM_011525450.2:c.928G>A, XM_011525450.1:c.928G>A, XM_011525454.4:c.928G>A, XM_011525454.3:c.928G>A, XM_011525454.2:c.928G>A, XM_011525454.1:c.928G>A, XM_011525453.3:c.928G>A, XM_011525453.2:c.928G>A, XM_011525453.1:c.928G>A, XM_011525452.2:c.781G>A, XM_011525452.1:c.781G>A, XM_047437011.1:c.796G>A, NR_027384.1:n.989G>A, NM_001145976.1:c.652G>A, NP_003975.1:p.Val261Met, NP_001333613.1:p.Val190Met, NP_001139447.1:p.Val310Met, NP_001333612.1:p.Val217Met, XP_011523752.1:p.Val310Met, XP_011523756.1:p.Val310Met, XP_011523755.1:p.Val310Met, XP_011523754.1:p.Val261Met, XP_047292967.1:p.Val266Met

                8.

                rs1483811008 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:28493575 (GRCh38)
                  17:26820593 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:28493574:C:T
                  Gene:
                  SLC13A2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000057/14 (GnomAD_exomes)
                  T=0.000219/58 (TOPMED)
                  T=0.000221/31 (GnomAD)
                  HGVS:
                  NC_000017.11:g.28493575C>T, NC_000017.10:g.26820593C>T, NG_051960.1:g.24930C>T, NM_003984.4:c.883C>T, NM_003984.3:c.883C>T, NM_001346684.2:c.670C>T, NM_001346684.1:c.670C>T, NM_001145975.2:c.1030C>T, NM_001145975.1:c.1030C>T, NM_001346683.2:c.751C>T, NM_001346683.1:c.751C>T, NW_003871090.1:g.175436C>T, XM_011525450.4:c.1030C>T, XM_011525450.3:c.1030C>T, XM_011525450.2:c.1030C>T, XM_011525450.1:c.1030C>T, XM_011525454.4:c.1030C>T, XM_011525454.3:c.1030C>T, XM_011525454.2:c.1030C>T, XM_011525454.1:c.1030C>T, XM_011525452.2:c.883C>T, XM_011525452.1:c.883C>T, XM_047437011.1:c.898C>T, NR_027384.1:n.1091C>T, NM_001145976.1:c.754C>T, NP_003975.1:p.Arg295Trp, NP_001333613.1:p.Arg224Trp, NP_001139447.1:p.Arg344Trp, NP_001333612.1:p.Arg251Trp, XP_011523752.1:p.Arg344Trp, XP_011523756.1:p.Arg344Trp, XP_011523754.1:p.Arg295Trp, XP_047292967.1:p.Arg300Trp

                  9.

                  rs1479849821 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:28494391 (GRCh38)
                    17:26821409 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:28494390:A:G
                    Gene:
                    SLC13A2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    NC_000017.11:g.28494391A>G, NC_000017.10:g.26821409A>G, NG_051960.1:g.25746A>G, NM_003984.4:c.1187A>G, NM_003984.3:c.1187A>G, NM_001346684.2:c.974A>G, NM_001346684.1:c.974A>G, NM_001145975.2:c.1334A>G, NM_001145975.1:c.1334A>G, NM_001346683.2:c.1055A>G, NM_001346683.1:c.1055A>G, NW_003871090.1:g.176252A>G, XM_011525450.4:c.1337A>G, XM_011525450.3:c.1337A>G, XM_011525450.2:c.1337A>G, XM_011525450.1:c.1337A>G, XM_011525453.3:c.1118A>G, XM_011525453.2:c.1118A>G, XM_011525453.1:c.1118A>G, XM_011525452.2:c.1190A>G, XM_011525452.1:c.1190A>G, XM_047437011.1:c.1202A>G, NR_027384.1:n.1395A>G, NM_001145976.1:c.1058A>G, NP_003975.1:p.Glu396Gly, NP_001333613.1:p.Glu325Gly, NP_001139447.1:p.Glu445Gly, NP_001333612.1:p.Glu352Gly, XP_011523752.1:p.Glu446Gly, XP_011523755.1:p.Glu373Gly, XP_011523754.1:p.Glu397Gly, XP_047292967.1:p.Glu401Gly

                    10.

                    rs1475986320 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:28490829 (GRCh38)
                      17:26817847 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:28490828:G:A
                      Gene:
                      SLC13A2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000017.11:g.28490829G>A, NC_000017.10:g.26817847G>A, NG_051960.1:g.22184G>A, NM_003984.4:c.497G>A, NM_003984.3:c.497G>A, NM_001346684.2:c.284G>A, NM_001346684.1:c.284G>A, NM_001145975.2:c.644G>A, NM_001145975.1:c.644G>A, NM_001346683.2:c.365G>A, NM_001346683.1:c.365G>A, NW_003871090.1:g.172690G>A, XM_011525450.4:c.644G>A, XM_011525450.3:c.644G>A, XM_011525450.2:c.644G>A, XM_011525450.1:c.644G>A, XM_011525454.4:c.644G>A, XM_011525454.3:c.644G>A, XM_011525454.2:c.644G>A, XM_011525454.1:c.644G>A, XM_011525453.3:c.644G>A, XM_011525453.2:c.644G>A, XM_011525453.1:c.644G>A, XM_011525452.2:c.497G>A, XM_011525452.1:c.497G>A, XM_047437011.1:c.512G>A, NR_027384.1:n.705G>A, NM_001145976.1:c.368G>A, NP_003975.1:p.Ser166Asn, NP_001333613.1:p.Ser95Asn, NP_001139447.1:p.Ser215Asn, NP_001333612.1:p.Ser122Asn, XP_011523752.1:p.Ser215Asn, XP_011523756.1:p.Ser215Asn, XP_011523755.1:p.Ser215Asn, XP_011523754.1:p.Ser166Asn, XP_047292967.1:p.Ser171Asn

                      11.

                      rs1471784029 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        17:28494066 (GRCh38)
                        17:26821084 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:28494065:A:C,NC_000017.11:28494065:A:G,NC_000017.11:28494065:A:T
                        Gene:
                        SLC13A2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.28494066A>C, NC_000017.11:g.28494066A>G, NC_000017.11:g.28494066A>T, NC_000017.10:g.26821084A>C, NC_000017.10:g.26821084A>G, NC_000017.10:g.26821084A>T, NG_051960.1:g.25421A>C, NG_051960.1:g.25421A>G, NG_051960.1:g.25421A>T, NM_003984.4:c.1147A>C, NM_003984.4:c.1147A>G, NM_003984.4:c.1147A>T, NM_003984.3:c.1147A>C, NM_003984.3:c.1147A>G, NM_003984.3:c.1147A>T, NM_001346684.2:c.934A>C, NM_001346684.2:c.934A>G, NM_001346684.2:c.934A>T, NM_001346684.1:c.934A>C, NM_001346684.1:c.934A>G, NM_001346684.1:c.934A>T, NM_001145975.2:c.1294A>C, NM_001145975.2:c.1294A>G, NM_001145975.2:c.1294A>T, NM_001145975.1:c.1294A>C, NM_001145975.1:c.1294A>G, NM_001145975.1:c.1294A>T, NM_001346683.2:c.1015A>C, NM_001346683.2:c.1015A>G, NM_001346683.2:c.1015A>T, NM_001346683.1:c.1015A>C, NM_001346683.1:c.1015A>G, NM_001346683.1:c.1015A>T, NW_003871090.1:g.175927A>C, NW_003871090.1:g.175927A>G, NW_003871090.1:g.175927A>T, XM_011525450.4:c.1294A>C, XM_011525450.4:c.1294A>G, XM_011525450.4:c.1294A>T, XM_011525450.3:c.1294A>C, XM_011525450.3:c.1294A>G, XM_011525450.3:c.1294A>T, XM_011525450.2:c.1294A>C, XM_011525450.2:c.1294A>G, XM_011525450.2:c.1294A>T, XM_011525450.1:c.1294A>C, XM_011525450.1:c.1294A>G, XM_011525450.1:c.1294A>T, XM_011525454.4:c.1294A>C, XM_011525454.4:c.1294A>G, XM_011525454.4:c.1294A>T, XM_011525454.3:c.1294A>C, XM_011525454.3:c.1294A>G, XM_011525454.3:c.1294A>T, XM_011525454.2:c.1294A>C, XM_011525454.2:c.1294A>G, XM_011525454.2:c.1294A>T, XM_011525454.1:c.1294A>C, XM_011525454.1:c.1294A>G, XM_011525454.1:c.1294A>T, XM_011525453.3:c.1075A>C, XM_011525453.3:c.1075A>G, XM_011525453.3:c.1075A>T, XM_011525453.2:c.1075A>C, XM_011525453.2:c.1075A>G, XM_011525453.2:c.1075A>T, XM_011525453.1:c.1075A>C, XM_011525453.1:c.1075A>G, XM_011525453.1:c.1075A>T, XM_011525452.2:c.1147A>C, XM_011525452.2:c.1147A>G, XM_011525452.2:c.1147A>T, XM_011525452.1:c.1147A>C, XM_011525452.1:c.1147A>G, XM_011525452.1:c.1147A>T, XM_047437011.1:c.1162A>C, XM_047437011.1:c.1162A>G, XM_047437011.1:c.1162A>T, NR_027384.1:n.1355A>C, NR_027384.1:n.1355A>G, NR_027384.1:n.1355A>T, NM_001145976.1:c.1018A>C, NM_001145976.1:c.1018A>G, NM_001145976.1:c.1018A>T, NP_003975.1:p.Ile383Leu, NP_003975.1:p.Ile383Val, NP_003975.1:p.Ile383Phe, NP_001333613.1:p.Ile312Leu, NP_001333613.1:p.Ile312Val, NP_001333613.1:p.Ile312Phe, NP_001139447.1:p.Ile432Leu, NP_001139447.1:p.Ile432Val, NP_001139447.1:p.Ile432Phe, NP_001333612.1:p.Ile339Leu, NP_001333612.1:p.Ile339Val, NP_001333612.1:p.Ile339Phe, XP_011523752.1:p.Ile432Leu, XP_011523752.1:p.Ile432Val, XP_011523752.1:p.Ile432Phe, XP_011523756.1:p.Ile432Leu, XP_011523756.1:p.Ile432Val, XP_011523756.1:p.Ile432Phe, XP_011523755.1:p.Ile359Leu, XP_011523755.1:p.Ile359Val, XP_011523755.1:p.Ile359Phe, XP_011523754.1:p.Ile383Leu, XP_011523754.1:p.Ile383Val, XP_011523754.1:p.Ile383Phe, XP_047292967.1:p.Ile388Leu, XP_047292967.1:p.Ile388Val, XP_047292967.1:p.Ile388Phe

                        12.

                        rs1468996455 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:28494490 (GRCh38)
                          17:26821508 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:28494489:A:G
                          Gene:
                          SLC13A2 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000017.11:g.28494490A>G, NC_000017.10:g.26821508A>G, NG_051960.1:g.25845A>G, NM_003984.4:c.1286A>G, NM_003984.3:c.1286A>G, NM_001346684.2:c.1073A>G, NM_001346684.1:c.1073A>G, NM_001145975.2:c.1433A>G, NM_001145975.1:c.1433A>G, NM_001346683.2:c.1154A>G, NM_001346683.1:c.1154A>G, NW_003871090.1:g.176351A>G, XM_011525450.4:c.1436A>G, XM_011525450.3:c.1436A>G, XM_011525450.2:c.1436A>G, XM_011525450.1:c.1436A>G, XM_011525453.3:c.1217A>G, XM_011525453.2:c.1217A>G, XM_011525453.1:c.1217A>G, XM_011525452.2:c.1289A>G, XM_011525452.1:c.1289A>G, XM_047437011.1:c.1301A>G, NR_027384.1:n.1494A>G, NM_001145976.1:c.1157A>G, NP_003975.1:p.Tyr429Cys, NP_001333613.1:p.Tyr358Cys, NP_001139447.1:p.Tyr478Cys, NP_001333612.1:p.Tyr385Cys, XP_011523752.1:p.Tyr479Cys, XP_011523755.1:p.Tyr406Cys, XP_011523754.1:p.Tyr430Cys, XP_047292967.1:p.Tyr434Cys

                          13.

                          rs1463411310 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:28490538 (GRCh38)
                            17:26817556 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:28490537:C:T
                            Gene:
                            SLC13A2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000017.11:g.28490538C>T, NC_000017.10:g.26817556C>T, NG_051960.1:g.21893C>T, NM_003984.4:c.316C>T, NM_003984.3:c.316C>T, NM_001346684.2:c.103C>T, NM_001346684.1:c.103C>T, NM_001145975.2:c.463C>T, NM_001145975.1:c.463C>T, NM_001346683.2:c.184C>T, NM_001346683.1:c.184C>T, NW_003871090.1:g.172399C>T, XM_011525450.4:c.463C>T, XM_011525450.3:c.463C>T, XM_011525450.2:c.463C>T, XM_011525450.1:c.463C>T, XM_011525454.4:c.463C>T, XM_011525454.3:c.463C>T, XM_011525454.2:c.463C>T, XM_011525454.1:c.463C>T, XM_011525453.3:c.463C>T, XM_011525453.2:c.463C>T, XM_011525453.1:c.463C>T, XM_011525452.2:c.316C>T, XM_011525452.1:c.316C>T, XM_047437011.1:c.331C>T, NR_027384.1:n.524C>T, NM_001145976.1:c.187C>T, NP_003975.1:p.His106Tyr, NP_001333613.1:p.His35Tyr, NP_001139447.1:p.His155Tyr, NP_001333612.1:p.His62Tyr, XP_011523752.1:p.His155Tyr, XP_011523756.1:p.His155Tyr, XP_011523755.1:p.His155Tyr, XP_011523754.1:p.His106Tyr, XP_047292967.1:p.His111Tyr

                            14.

                            rs1457541689 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:28493662 (GRCh38)
                              17:26820680 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:28493661:C:T
                              Gene:
                              SLC13A2 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.28493662C>T, NC_000017.10:g.26820680C>T, NG_051960.1:g.25017C>T, NM_003984.4:c.970C>T, NM_003984.3:c.970C>T, NM_001346684.2:c.757C>T, NM_001346684.1:c.757C>T, NM_001145975.2:c.1117C>T, NM_001145975.1:c.1117C>T, NM_001346683.2:c.838C>T, NM_001346683.1:c.838C>T, NW_003871090.1:g.175523C>T, XM_011525450.4:c.1117C>T, XM_011525450.3:c.1117C>T, XM_011525450.2:c.1117C>T, XM_011525450.1:c.1117C>T, XM_011525454.4:c.1117C>T, XM_011525454.3:c.1117C>T, XM_011525454.2:c.1117C>T, XM_011525454.1:c.1117C>T, XM_011525452.2:c.970C>T, XM_011525452.1:c.970C>T, XM_047437011.1:c.985C>T, NR_027384.1:n.1178C>T, NM_001145976.1:c.841C>T, NP_003975.1:p.Pro324Ser, NP_001333613.1:p.Pro253Ser, NP_001139447.1:p.Pro373Ser, NP_001333612.1:p.Pro280Ser, XP_011523752.1:p.Pro373Ser, XP_011523756.1:p.Pro373Ser, XP_011523754.1:p.Pro324Ser, XP_047292967.1:p.Pro329Ser

                              15.

                              rs1445798910 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                17:28493649 (GRCh38)
                                17:26820667 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:28493648:C:G
                                Gene:
                                SLC13A2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000021/3 (GnomAD)
                                G=0.00003/8 (TOPMED)
                                HGVS:
                                NC_000017.11:g.28493649C>G, NC_000017.10:g.26820667C>G, NG_051960.1:g.25004C>G, NM_003984.4:c.957C>G, NM_003984.3:c.957C>G, NM_001346684.2:c.744C>G, NM_001346684.1:c.744C>G, NM_001145975.2:c.1104C>G, NM_001145975.1:c.1104C>G, NM_001346683.2:c.825C>G, NM_001346683.1:c.825C>G, NW_003871090.1:g.175510C>G, XM_011525450.4:c.1104C>G, XM_011525450.3:c.1104C>G, XM_011525450.2:c.1104C>G, XM_011525450.1:c.1104C>G, XM_011525454.4:c.1104C>G, XM_011525454.3:c.1104C>G, XM_011525454.2:c.1104C>G, XM_011525454.1:c.1104C>G, XM_011525452.2:c.957C>G, XM_011525452.1:c.957C>G, XM_047437011.1:c.972C>G, NR_027384.1:n.1165C>G, NM_001145976.1:c.828C>G, NP_003975.1:p.His319Gln, NP_001333613.1:p.His248Gln, NP_001139447.1:p.His368Gln, NP_001333612.1:p.His275Gln, XP_011523752.1:p.His368Gln, XP_011523756.1:p.His368Gln, XP_011523754.1:p.His319Gln, XP_047292967.1:p.His324Gln

                                16.

                                rs1444236573 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:28493617 (GRCh38)
                                  17:26820635 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:28493616:C:G
                                  Gene:
                                  SLC13A2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.28493617C>G, NC_000017.10:g.26820635C>G, NG_051960.1:g.24972C>G, NM_003984.4:c.925C>G, NM_003984.3:c.925C>G, NM_001346684.2:c.712C>G, NM_001346684.1:c.712C>G, NM_001145975.2:c.1072C>G, NM_001145975.1:c.1072C>G, NM_001346683.2:c.793C>G, NM_001346683.1:c.793C>G, NW_003871090.1:g.175478C>G, XM_011525450.4:c.1072C>G, XM_011525450.3:c.1072C>G, XM_011525450.2:c.1072C>G, XM_011525450.1:c.1072C>G, XM_011525454.4:c.1072C>G, XM_011525454.3:c.1072C>G, XM_011525454.2:c.1072C>G, XM_011525454.1:c.1072C>G, XM_011525452.2:c.925C>G, XM_011525452.1:c.925C>G, XM_047437011.1:c.940C>G, NR_027384.1:n.1133C>G, NM_001145976.1:c.796C>G, NP_003975.1:p.Gln309Glu, NP_001333613.1:p.Gln238Glu, NP_001139447.1:p.Gln358Glu, NP_001333612.1:p.Gln265Glu, XP_011523752.1:p.Gln358Glu, XP_011523756.1:p.Gln358Glu, XP_011523754.1:p.Gln309Glu, XP_047292967.1:p.Gln314Glu

                                  17.

                                  rs1438966286 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    17:28473727 (GRCh38)
                                    17:26800745 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:28473726:G:T
                                    Gene:
                                    SLC13A2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000017.11:g.28473727G>T, NC_000017.10:g.26800745G>T, NG_051960.1:g.5082G>T, NM_003984.4:c.15G>T, NM_003984.3:c.15G>T, NM_001346684.2:c.-402G>T, NM_001346684.1:c.-402G>T, NM_001145975.2:c.15G>T, NM_001145975.1:c.15G>T, NM_001346683.2:c.-259G>T, NM_001346683.1:c.-259G>T, NW_003871090.1:g.155588G>T, XM_011525450.4:c.15G>T, XM_011525450.3:c.15G>T, XM_011525450.2:c.15G>T, XM_011525450.1:c.15G>T, XM_011525454.4:c.15G>T, XM_011525454.3:c.15G>T, XM_011525454.2:c.15G>T, XM_011525454.1:c.15G>T, XM_011525453.3:c.15G>T, XM_011525453.2:c.15G>T, XM_011525453.1:c.15G>T, XM_011525452.2:c.15G>T, XM_011525452.1:c.15G>T, XM_047437011.1:c.-259G>T, NR_027384.1:n.82G>T, NM_001145976.1:c.15G>T, NP_003975.1:p.Trp5Cys, NP_001139447.1:p.Trp5Cys, XP_011523752.1:p.Trp5Cys, XP_011523756.1:p.Trp5Cys, XP_011523755.1:p.Trp5Cys, XP_011523754.1:p.Trp5Cys

                                    18.

                                    rs1436007229 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:28490798 (GRCh38)
                                      17:26817816 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:28490797:C:T
                                      Gene:
                                      SLC13A2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1430153076 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        17:28490471 (GRCh38)
                                        17:26817490 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:28490471:AA:AAA
                                        Gene:
                                        SLC13A2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAA=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.28490473dup, NC_000017.10:g.26817491dup, NG_051960.1:g.21828dup, NM_003984.4:c.251dup, NM_003984.3:c.251dup, NM_001346684.2:c.38dup, NM_001346684.1:c.38dup, NM_001145975.2:c.398dup, NM_001145975.1:c.398dup, NM_001346683.2:c.119dup, NM_001346683.1:c.119dup, NW_003871090.1:g.172334dup, XM_011525450.4:c.398dup, XM_011525450.3:c.398dup, XM_011525450.2:c.398dup, XM_011525450.1:c.398dup, XM_011525454.4:c.398dup, XM_011525454.3:c.398dup, XM_011525454.2:c.398dup, XM_011525454.1:c.398dup, XM_011525453.3:c.398dup, XM_011525453.2:c.398dup, XM_011525453.1:c.398dup, XM_011525452.2:c.251dup, XM_011525452.1:c.251dup, XM_047437011.1:c.266dup, NR_027384.1:n.459dup, NM_001145976.1:c.122dup, NP_003975.1:p.Asp85fs, NP_001333613.1:p.Asp14fs, NP_001139447.1:p.Asp134fs, NP_001333612.1:p.Asp41fs, XP_011523752.1:p.Asp134fs, XP_011523756.1:p.Asp134fs, XP_011523755.1:p.Asp134fs, XP_011523754.1:p.Asp85fs, XP_047292967.1:p.Asp90fs

                                        20.

                                        rs1424330385 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:28473781 (GRCh38)
                                          17:26800799 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:28473780:C:T
                                          Gene:
                                          SLC13A2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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