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Items: 1 to 20 of 628

1.

rs1488594404 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    21:45537929 (GRCh38)
    21:46957843 (GRCh37)
    Canonical SPDI:
    NC_000021.9:45537928:G:C
    Gene:
    SLC19A1 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000005/1 (GnomAD_exomes)
    C=0.000011/3 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    NC_000021.9:g.45537929G>C, NC_000021.8:g.46957843G>C, NG_028278.2:g.30215C>G, NM_194255.4:c.31C>G, NM_194255.3:c.31C>G, NM_194255.2:c.31C>G, NM_001205206.4:c.31C>G, NM_001205206.3:c.31C>G, NM_001205206.2:c.31C>G, NM_001205206.1:c.31C>G, NM_001352511.3:c.31C>G, NM_001352511.2:c.31C>G, NM_001352511.1:c.31C>G, NM_001352510.2:c.-328C>G, NM_001352510.1:c.-328C>G, NM_001352512.2:c.31C>G, NM_001352512.1:c.31C>G, NW_025791815.1:g.155155G>C, XM_011529696.3:c.322C>G, XM_011529696.2:c.322C>G, XM_011529696.1:c.322C>G, XM_011529698.3:c.97C>G, XM_011529698.2:c.97C>G, XM_011529698.1:c.97C>G, XM_011529700.3:c.31C>G, XM_011529700.2:c.31C>G, XM_011529700.1:c.31C>G, XM_011529703.3:c.31C>G, XM_011529703.2:c.31C>G, XM_011529703.1:c.31C>G, XM_011529702.3:c.31C>G, XM_011529702.2:c.31C>G, XM_011529702.1:c.31C>G, XM_017028443.2:c.31C>G, XM_017028443.1:c.235C>G, NM_003056.2:c.-328C>G, XM_047440956.1:c.160C>G, XM_047440958.1:c.31C>G, XM_047440955.1:c.97C>G, XM_047440960.1:c.31C>G, XM_047440957.1:c.97C>G, XM_047440963.1:c.31C>G, XM_047440964.1:c.31C>G, NM_003056.1:c.31C>G, XM_047440954.1:c.322C>G, XM_047440965.1:c.-328C>G, NP_919231.1:p.Gln11Glu, NP_001192135.1:p.Gln11Glu, NP_001339440.1:p.Gln11Glu, NP_001339441.1:p.Gln11Glu, XP_011527998.1:p.Gln108Glu, XP_011528000.1:p.Gln33Glu, XP_011528002.1:p.Gln11Glu, XP_011528005.1:p.Gln11Glu, XP_011528004.1:p.Gln11Glu, XP_016883932.2:p.Gln11Glu, XP_047296912.1:p.Gln54Glu, XP_047296914.1:p.Gln11Glu, XP_047296911.1:p.Gln33Glu, XP_047296916.1:p.Gln11Glu, XP_047296913.1:p.Gln33Glu, XP_047296919.1:p.Gln11Glu, XP_047296920.1:p.Gln11Glu, XP_047296910.1:p.Gln108Glu

    2.

    rs1486450479 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      21:45530893 (GRCh38)
      21:46950807 (GRCh37)
      Canonical SPDI:
      NC_000021.9:45530892:G:A
      Gene:
      SLC19A1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000021.9:g.45530893G>A, NC_000021.8:g.46950807G>A, NG_028278.2:g.37251C>T, NM_194255.4:c.1028C>T, NM_194255.3:c.1028C>T, NM_194255.2:c.1028C>T, NM_001205206.4:c.1028C>T, NM_001205206.3:c.1028C>T, NM_001205206.2:c.1028C>T, NM_001205206.1:c.1028C>T, NM_001205207.3:c.908C>T, NM_001205207.2:c.908C>T, NM_001205207.1:c.908C>T, NM_001352511.3:c.1028C>T, NM_001352511.2:c.1028C>T, NM_001352511.1:c.1028C>T, NM_001352510.2:c.674C>T, NM_001352510.1:c.674C>T, NM_001352512.2:c.1028C>T, NM_001352512.1:c.1028C>T, NW_025791815.1:g.148119G>A, XM_011529706.4:c.890C>T, XM_011529706.3:c.890C>T, XM_011529706.2:c.890C>T, XM_011529706.1:c.890C>T, XM_011529696.3:c.1319C>T, XM_011529696.2:c.1319C>T, XM_011529696.1:c.1319C>T, XM_011529698.3:c.1094C>T, XM_011529698.2:c.1094C>T, XM_011529698.1:c.1094C>T, XM_011529700.3:c.1028C>T, XM_011529700.2:c.1028C>T, XM_011529700.1:c.1028C>T, XM_011529703.3:c.1028C>T, XM_011529703.2:c.1028C>T, XM_011529703.1:c.1028C>T, NM_003056.2:c.674C>T, XM_011529702.3:c.1028C>T, XM_011529702.2:c.1028C>T, XM_011529702.1:c.1028C>T, XM_017028443.2:c.1028C>T, XM_017028443.1:c.1232C>T, XM_047440956.1:c.1157C>T, XM_047440954.1:c.1319C>T, XM_047440958.1:c.1028C>T, XM_047440960.1:c.1028C>T, XM_047440965.1:c.674C>T, XM_047440963.1:c.1028C>T, XM_047440961.1:c.674C>T, XM_047440964.1:c.1028C>T, NM_003056.1:c.1028C>T, XM_047440959.1:c.890C>T, XM_047440955.1:c.1094C>T, XM_047440962.1:c.908C>T, XM_047440957.1:c.1094C>T, NP_919231.1:p.Thr343Met, NP_001192135.1:p.Thr343Met, NP_001192136.1:p.Thr303Met, NP_001339440.1:p.Thr343Met, NP_001339439.1:p.Thr225Met, NP_001339441.1:p.Thr343Met, XP_011528008.1:p.Thr297Met, XP_011527998.1:p.Thr440Met, XP_011528000.1:p.Thr365Met, XP_011528002.1:p.Thr343Met, XP_011528005.1:p.Thr343Met, XP_011528004.1:p.Thr343Met, XP_016883932.2:p.Thr343Met, XP_047296912.1:p.Thr386Met, XP_047296910.1:p.Thr440Met, XP_047296914.1:p.Thr343Met, XP_047296916.1:p.Thr343Met, XP_047296921.1:p.Thr225Met, XP_047296919.1:p.Thr343Met, XP_047296917.1:p.Thr225Met, XP_047296920.1:p.Thr343Met, XP_047296915.1:p.Thr297Met, XP_047296911.1:p.Thr365Met, XP_047296918.1:p.Thr303Met, XP_047296913.1:p.Thr365Met

      3.

      rs1486330835 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        21:45531508 (GRCh38)
        21:46951422 (GRCh37)
        Canonical SPDI:
        NC_000021.9:45531507:T:C
        Gene:
        SLC19A1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000021.9:g.45531508T>C, NC_000021.8:g.46951422T>C, NG_028278.2:g.36636A>G, NM_194255.4:c.830A>G, NM_194255.3:c.830A>G, NM_194255.2:c.830A>G, NM_001205206.4:c.830A>G, NM_001205206.3:c.830A>G, NM_001205206.2:c.830A>G, NM_001205206.1:c.830A>G, NM_001205207.3:c.710A>G, NM_001205207.2:c.710A>G, NM_001205207.1:c.710A>G, NM_001352511.3:c.830A>G, NM_001352511.2:c.830A>G, NM_001352511.1:c.830A>G, NM_001352510.2:c.476A>G, NM_001352510.1:c.476A>G, NM_001352512.2:c.830A>G, NM_001352512.1:c.830A>G, NW_025791815.1:g.148734T>C, XM_011529706.4:c.692A>G, XM_011529706.3:c.692A>G, XM_011529706.2:c.692A>G, XM_011529706.1:c.692A>G, XM_011529696.3:c.1121A>G, XM_011529696.2:c.1121A>G, XM_011529696.1:c.1121A>G, XM_011529698.3:c.896A>G, XM_011529698.2:c.896A>G, XM_011529698.1:c.896A>G, XM_011529700.3:c.830A>G, XM_011529700.2:c.830A>G, XM_011529700.1:c.830A>G, XM_011529703.3:c.830A>G, XM_011529703.2:c.830A>G, XM_011529703.1:c.830A>G, NM_003056.2:c.476A>G, XM_011529702.3:c.830A>G, XM_011529702.2:c.830A>G, XM_011529702.1:c.830A>G, XM_017028443.2:c.830A>G, XM_017028443.1:c.1034A>G, XM_047440956.1:c.959A>G, XM_047440954.1:c.1121A>G, XM_047440958.1:c.830A>G, XM_047440960.1:c.830A>G, XM_047440965.1:c.476A>G, XM_047440963.1:c.830A>G, XM_047440961.1:c.476A>G, XM_047440964.1:c.830A>G, NM_003056.1:c.830A>G, XM_047440959.1:c.692A>G, XM_047440955.1:c.896A>G, XM_047440962.1:c.710A>G, XM_047440957.1:c.896A>G, NP_919231.1:p.Asn277Ser, NP_001192135.1:p.Asn277Ser, NP_001192136.1:p.Asn237Ser, NP_001339440.1:p.Asn277Ser, NP_001339439.1:p.Asn159Ser, NP_001339441.1:p.Asn277Ser, XP_011528008.1:p.Asn231Ser, XP_011527998.1:p.Asn374Ser, XP_011528000.1:p.Asn299Ser, XP_011528002.1:p.Asn277Ser, XP_011528005.1:p.Asn277Ser, XP_011528004.1:p.Asn277Ser, XP_016883932.2:p.Asn277Ser, XP_047296912.1:p.Asn320Ser, XP_047296910.1:p.Asn374Ser, XP_047296914.1:p.Asn277Ser, XP_047296916.1:p.Asn277Ser, XP_047296921.1:p.Asn159Ser, XP_047296919.1:p.Asn277Ser, XP_047296917.1:p.Asn159Ser, XP_047296920.1:p.Asn277Ser, XP_047296915.1:p.Asn231Ser, XP_047296911.1:p.Asn299Ser, XP_047296918.1:p.Asn237Ser, XP_047296913.1:p.Asn299Ser

        4.

        rs1485986891 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          21:45531438 (GRCh38)
          21:46951352 (GRCh37)
          Canonical SPDI:
          NC_000021.9:45531437:G:T
          Gene:
          SLC19A1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000021.9:g.45531438G>T, NC_000021.8:g.46951352G>T, NG_028278.2:g.36706C>A, NM_194255.4:c.900C>A, NM_194255.3:c.900C>A, NM_194255.2:c.900C>A, NM_001205206.4:c.900C>A, NM_001205206.3:c.900C>A, NM_001205206.2:c.900C>A, NM_001205206.1:c.900C>A, NM_001205207.3:c.780C>A, NM_001205207.2:c.780C>A, NM_001205207.1:c.780C>A, NM_001352511.3:c.900C>A, NM_001352511.2:c.900C>A, NM_001352511.1:c.900C>A, NM_001352510.2:c.546C>A, NM_001352510.1:c.546C>A, NM_001352512.2:c.900C>A, NM_001352512.1:c.900C>A, NW_025791815.1:g.148664G>T, XM_011529706.4:c.762C>A, XM_011529706.3:c.762C>A, XM_011529706.2:c.762C>A, XM_011529706.1:c.762C>A, XM_011529696.3:c.1191C>A, XM_011529696.2:c.1191C>A, XM_011529696.1:c.1191C>A, XM_011529698.3:c.966C>A, XM_011529698.2:c.966C>A, XM_011529698.1:c.966C>A, XM_011529700.3:c.900C>A, XM_011529700.2:c.900C>A, XM_011529700.1:c.900C>A, XM_011529703.3:c.900C>A, XM_011529703.2:c.900C>A, XM_011529703.1:c.900C>A, NM_003056.2:c.546C>A, XM_011529702.3:c.900C>A, XM_011529702.2:c.900C>A, XM_011529702.1:c.900C>A, XM_017028443.2:c.900C>A, XM_017028443.1:c.1104C>A, XM_047440956.1:c.1029C>A, XM_047440954.1:c.1191C>A, XM_047440958.1:c.900C>A, XM_047440960.1:c.900C>A, XM_047440965.1:c.546C>A, XM_047440963.1:c.900C>A, XM_047440961.1:c.546C>A, XM_047440964.1:c.900C>A, NM_003056.1:c.900C>A, XM_047440959.1:c.762C>A, XM_047440955.1:c.966C>A, XM_047440962.1:c.780C>A, XM_047440957.1:c.966C>A, NP_919231.1:p.Asn300Lys, NP_001192135.1:p.Asn300Lys, NP_001192136.1:p.Asn260Lys, NP_001339440.1:p.Asn300Lys, NP_001339439.1:p.Asn182Lys, NP_001339441.1:p.Asn300Lys, XP_011528008.1:p.Asn254Lys, XP_011527998.1:p.Asn397Lys, XP_011528000.1:p.Asn322Lys, XP_011528002.1:p.Asn300Lys, XP_011528005.1:p.Asn300Lys, XP_011528004.1:p.Asn300Lys, XP_016883932.2:p.Asn300Lys, XP_047296912.1:p.Asn343Lys, XP_047296910.1:p.Asn397Lys, XP_047296914.1:p.Asn300Lys, XP_047296916.1:p.Asn300Lys, XP_047296921.1:p.Asn182Lys, XP_047296919.1:p.Asn300Lys, XP_047296917.1:p.Asn182Lys, XP_047296920.1:p.Asn300Lys, XP_047296915.1:p.Asn254Lys, XP_047296911.1:p.Asn322Lys, XP_047296918.1:p.Asn260Lys, XP_047296913.1:p.Asn322Lys

          5.

          rs1484779331 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            21:45515033 (GRCh38)
            21:46934947 (GRCh37)
            Canonical SPDI:
            NC_000021.9:45515032:G:A
            Gene:
            SLC19A1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000007/1 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000021.9:g.45515033G>A, NC_000021.8:g.46934947G>A, NG_028278.2:g.53111C>T, NM_194255.4:c.*625C>T, NM_194255.3:c.*625C>T, NM_194255.2:c.*625C>T, NM_001205206.4:c.1413C>T, NM_001205206.3:c.1413C>T, NM_001205206.2:c.1413C>T, NM_001205206.1:c.1413C>T, NM_001205207.3:c.*625C>T, NM_001205207.2:c.*625C>T, NM_001205207.1:c.*625C>T, NM_001352511.3:c.1413C>T, NM_001352511.2:c.1413C>T, NM_001352511.1:c.1413C>T, NM_001352510.2:c.*625C>T, NM_001352510.1:c.*625C>T, NM_001352512.2:c.*625C>T, NM_001352512.1:c.*625C>T, NG_011903.1:g.114842G>A, NW_025791815.1:g.132259G>A, XM_011529706.4:c.*625C>T, XM_011529706.3:c.*625C>T, XM_011529706.2:c.*625C>T, XM_011529706.1:c.*625C>T, XM_011529696.3:c.*625C>T, XM_011529696.2:c.*625C>T, XM_011529696.1:c.*625C>T, XM_011529698.3:c.*625C>T, XM_011529698.2:c.*625C>T, XM_011529698.1:c.*625C>T, XM_011529700.3:c.*625C>T, XM_011529700.2:c.*625C>T, XM_011529700.1:c.*625C>T, XM_011529703.3:c.*625C>T, XM_011529703.2:c.*625C>T, XM_011529703.1:c.*625C>T, XM_011529702.3:c.*625C>T, XM_011529702.2:c.*625C>T, XM_011529702.1:c.*625C>T, XM_017028443.2:c.*625C>T, XM_017028443.1:c.*625C>T, NM_003056.2:c.*625C>T, XM_047440959.1:c.*625C>T, XM_047440961.1:c.*625C>T, XM_047440954.1:c.*625C>T, XM_047440955.1:c.1479C>T, XM_047440962.1:c.1293C>T, XM_047440960.1:c.1413C>T, XM_047440958.1:c.*625C>T, XM_047440965.1:c.1059C>T, NM_003056.1:c.*625C>T, XM_047440956.1:c.*625C>T

            6.

            rs1483220132 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              21:45531803 (GRCh38)
              21:46951717 (GRCh37)
              Canonical SPDI:
              NC_000021.9:45531802:G:A
              Gene:
              SLC19A1 (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000028/6 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.45531803G>A, NC_000021.8:g.46951717G>A, NG_028278.2:g.36341C>T, NM_194255.4:c.535C>T, NM_194255.3:c.535C>T, NM_194255.2:c.535C>T, NM_001205206.4:c.535C>T, NM_001205206.3:c.535C>T, NM_001205206.2:c.535C>T, NM_001205206.1:c.535C>T, NM_001205207.3:c.415C>T, NM_001205207.2:c.415C>T, NM_001205207.1:c.415C>T, NM_001352511.3:c.535C>T, NM_001352511.2:c.535C>T, NM_001352511.1:c.535C>T, NM_001352510.2:c.181C>T, NM_001352510.1:c.181C>T, NM_001352512.2:c.535C>T, NM_001352512.1:c.535C>T, NW_025791815.1:g.149029G>A, XM_011529706.4:c.397C>T, XM_011529706.3:c.397C>T, XM_011529706.2:c.397C>T, XM_011529706.1:c.397C>T, XM_011529696.3:c.826C>T, XM_011529696.2:c.826C>T, XM_011529696.1:c.826C>T, XM_011529698.3:c.601C>T, XM_011529698.2:c.601C>T, XM_011529698.1:c.601C>T, XM_011529700.3:c.535C>T, XM_011529700.2:c.535C>T, XM_011529700.1:c.535C>T, XM_011529703.3:c.535C>T, XM_011529703.2:c.535C>T, XM_011529703.1:c.535C>T, NM_003056.2:c.181C>T, XM_011529702.3:c.535C>T, XM_011529702.2:c.535C>T, XM_011529702.1:c.535C>T, XM_017028443.2:c.535C>T, XM_017028443.1:c.739C>T, XM_047440956.1:c.664C>T, XM_047440954.1:c.826C>T, XM_047440958.1:c.535C>T, XM_047440960.1:c.535C>T, XM_047440965.1:c.181C>T, XM_047440963.1:c.535C>T, XM_047440961.1:c.181C>T, XM_047440964.1:c.535C>T, NM_003056.1:c.535C>T, XM_047440959.1:c.397C>T, XM_047440955.1:c.601C>T, XM_047440962.1:c.415C>T, XM_047440957.1:c.601C>T, NP_919231.1:p.Arg179Ter, NP_001192135.1:p.Arg179Ter, NP_001192136.1:p.Arg139Ter, NP_001339440.1:p.Arg179Ter, NP_001339439.1:p.Arg61Ter, NP_001339441.1:p.Arg179Ter, XP_011528008.1:p.Arg133Ter, XP_011527998.1:p.Arg276Ter, XP_011528000.1:p.Arg201Ter, XP_011528002.1:p.Arg179Ter, XP_011528005.1:p.Arg179Ter, XP_011528004.1:p.Arg179Ter, XP_016883932.2:p.Arg179Ter, XP_047296912.1:p.Arg222Ter, XP_047296910.1:p.Arg276Ter, XP_047296914.1:p.Arg179Ter, XP_047296916.1:p.Arg179Ter, XP_047296921.1:p.Arg61Ter, XP_047296919.1:p.Arg179Ter, XP_047296917.1:p.Arg61Ter, XP_047296920.1:p.Arg179Ter, XP_047296915.1:p.Arg133Ter, XP_047296911.1:p.Arg201Ter, XP_047296918.1:p.Arg139Ter, XP_047296913.1:p.Arg201Ter

              7.

              rs1483096861 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                21:45537839 (GRCh38)
                21:46957753 (GRCh37)
                Canonical SPDI:
                NC_000021.9:45537838:T:C
                Gene:
                SLC19A1 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000021.9:g.45537839T>C, NC_000021.8:g.46957753T>C, NG_028278.2:g.30305A>G, NM_194255.4:c.121A>G, NM_194255.3:c.121A>G, NM_194255.2:c.121A>G, NM_001205206.4:c.121A>G, NM_001205206.3:c.121A>G, NM_001205206.2:c.121A>G, NM_001205206.1:c.121A>G, NM_001352511.3:c.121A>G, NM_001352511.2:c.121A>G, NM_001352511.1:c.121A>G, NM_001352510.2:c.-238A>G, NM_001352510.1:c.-238A>G, NM_001352512.2:c.121A>G, NM_001352512.1:c.121A>G, NW_025791815.1:g.155065T>C, XM_011529696.3:c.412A>G, XM_011529696.2:c.412A>G, XM_011529696.1:c.412A>G, XM_011529698.3:c.187A>G, XM_011529698.2:c.187A>G, XM_011529698.1:c.187A>G, XM_011529700.3:c.121A>G, XM_011529700.2:c.121A>G, XM_011529700.1:c.121A>G, XM_011529703.3:c.121A>G, XM_011529703.2:c.121A>G, XM_011529703.1:c.121A>G, XM_011529702.3:c.121A>G, XM_011529702.2:c.121A>G, XM_011529702.1:c.121A>G, XM_017028443.2:c.121A>G, XM_017028443.1:c.325A>G, NM_003056.2:c.-238A>G, XM_047440956.1:c.250A>G, XM_047440958.1:c.121A>G, XM_047440955.1:c.187A>G, XM_047440960.1:c.121A>G, XM_047440957.1:c.187A>G, XM_047440963.1:c.121A>G, XM_047440964.1:c.121A>G, NM_003056.1:c.121A>G, XM_047440954.1:c.412A>G, XM_047440965.1:c.-238A>G, NP_919231.1:p.Ile41Val, NP_001192135.1:p.Ile41Val, NP_001339440.1:p.Ile41Val, NP_001339441.1:p.Ile41Val, XP_011527998.1:p.Ile138Val, XP_011528000.1:p.Ile63Val, XP_011528002.1:p.Ile41Val, XP_011528005.1:p.Ile41Val, XP_011528004.1:p.Ile41Val, XP_016883932.2:p.Ile41Val, XP_047296912.1:p.Ile84Val, XP_047296914.1:p.Ile41Val, XP_047296911.1:p.Ile63Val, XP_047296916.1:p.Ile41Val, XP_047296913.1:p.Ile63Val, XP_047296919.1:p.Ile41Val, XP_047296920.1:p.Ile41Val, XP_047296910.1:p.Ile138Val

                8.

                rs1482775926 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  21:45515127 (GRCh38)
                  21:46935041 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:45515126:A:G
                  Gene:
                  SLC19A1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  NC_000021.9:g.45515127A>G, NC_000021.8:g.46935041A>G, NG_028278.2:g.53017T>C, NM_194255.4:c.*531T>C, NM_194255.3:c.*531T>C, NM_194255.2:c.*531T>C, NM_001205206.4:c.1319T>C, NM_001205206.3:c.1319T>C, NM_001205206.2:c.1319T>C, NM_001205206.1:c.1319T>C, NM_001205207.3:c.*531T>C, NM_001205207.2:c.*531T>C, NM_001205207.1:c.*531T>C, NM_001352511.3:c.1319T>C, NM_001352511.2:c.1319T>C, NM_001352511.1:c.1319T>C, NM_001352510.2:c.*531T>C, NM_001352510.1:c.*531T>C, NM_001352512.2:c.*531T>C, NM_001352512.1:c.*531T>C, NG_011903.1:g.114936A>G, NW_025791815.1:g.132353A>G, XM_011529706.4:c.*531T>C, XM_011529706.3:c.*531T>C, XM_011529706.2:c.*531T>C, XM_011529706.1:c.*531T>C, XM_011529696.3:c.*531T>C, XM_011529696.2:c.*531T>C, XM_011529696.1:c.*531T>C, XM_011529698.3:c.*531T>C, XM_011529698.2:c.*531T>C, XM_011529698.1:c.*531T>C, XM_011529700.3:c.*531T>C, XM_011529700.2:c.*531T>C, XM_011529700.1:c.*531T>C, XM_011529703.3:c.*531T>C, XM_011529703.2:c.*531T>C, XM_011529703.1:c.*531T>C, XM_011529702.3:c.*531T>C, XM_011529702.2:c.*531T>C, XM_011529702.1:c.*531T>C, XM_017028443.2:c.*531T>C, XM_017028443.1:c.*531T>C, NM_003056.2:c.*531T>C, XM_047440959.1:c.*531T>C, XM_047440961.1:c.*531T>C, XM_047440954.1:c.*531T>C, XM_047440955.1:c.1385T>C, XM_047440962.1:c.1199T>C, XM_047440960.1:c.1319T>C, XM_047440958.1:c.*531T>C, XM_047440965.1:c.965T>C, NM_003056.1:c.*531T>C, XM_047440956.1:c.*531T>C, NP_001192135.1:p.Leu440Pro, NP_001339440.1:p.Leu440Pro, XP_047296911.1:p.Leu462Pro, XP_047296918.1:p.Leu400Pro, XP_047296916.1:p.Leu440Pro, XP_047296921.1:p.Leu322Pro

                  9.

                  rs1482122121 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:45532066 (GRCh38)
                    21:46951980 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:45532065:C:T
                    Gene:
                    SLC19A1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000021.9:g.45532066C>T, NC_000021.8:g.46951980C>T, NG_028278.2:g.36078G>A, NM_194255.4:c.272G>A, NM_194255.3:c.272G>A, NM_194255.2:c.272G>A, NM_001205206.4:c.272G>A, NM_001205206.3:c.272G>A, NM_001205206.2:c.272G>A, NM_001205206.1:c.272G>A, NM_001205207.3:c.152G>A, NM_001205207.2:c.152G>A, NM_001205207.1:c.152G>A, NM_001352511.3:c.272G>A, NM_001352511.2:c.272G>A, NM_001352511.1:c.272G>A, NM_001352510.2:c.-83G>A, NM_001352510.1:c.-83G>A, NM_001352512.2:c.272G>A, NM_001352512.1:c.272G>A, NW_025791815.1:g.149292C>T, XM_011529706.4:c.134G>A, XM_011529706.3:c.134G>A, XM_011529706.2:c.134G>A, XM_011529706.1:c.134G>A, XM_011529696.3:c.563G>A, XM_011529696.2:c.563G>A, XM_011529696.1:c.563G>A, XM_011529698.3:c.338G>A, XM_011529698.2:c.338G>A, XM_011529698.1:c.338G>A, XM_011529700.3:c.272G>A, XM_011529700.2:c.272G>A, XM_011529700.1:c.272G>A, XM_011529703.3:c.272G>A, XM_011529703.2:c.272G>A, XM_011529703.1:c.272G>A, NM_003056.2:c.-83G>A, XM_011529702.3:c.272G>A, XM_011529702.2:c.272G>A, XM_011529702.1:c.272G>A, XM_017028443.2:c.272G>A, XM_017028443.1:c.476G>A, XM_047440956.1:c.401G>A, XM_047440954.1:c.563G>A, XM_047440958.1:c.272G>A, XM_047440960.1:c.272G>A, XM_047440965.1:c.-83G>A, XM_047440963.1:c.272G>A, XM_047440961.1:c.-83G>A, XM_047440964.1:c.272G>A, NM_003056.1:c.272G>A, XM_047440959.1:c.134G>A, XM_047440955.1:c.338G>A, XM_047440962.1:c.152G>A, XM_047440957.1:c.338G>A, NP_919231.1:p.Arg91His, NP_001192135.1:p.Arg91His, NP_001192136.1:p.Arg51His, NP_001339440.1:p.Arg91His, NP_001339441.1:p.Arg91His, XP_011528008.1:p.Arg45His, XP_011527998.1:p.Arg188His, XP_011528000.1:p.Arg113His, XP_011528002.1:p.Arg91His, XP_011528005.1:p.Arg91His, XP_011528004.1:p.Arg91His, XP_016883932.2:p.Arg91His, XP_047296912.1:p.Arg134His, XP_047296910.1:p.Arg188His, XP_047296914.1:p.Arg91His, XP_047296916.1:p.Arg91His, XP_047296919.1:p.Arg91His, XP_047296920.1:p.Arg91His, XP_047296915.1:p.Arg45His, XP_047296911.1:p.Arg113His, XP_047296918.1:p.Arg51His, XP_047296913.1:p.Arg113His

                    10.

                    rs1481908333 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAG>- [Show Flanks]
                      Chromosome:
                      21:45514996 (GRCh38)
                      21:46934910 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:45514993:AGAAG:AG
                      Gene:
                      SLC19A1 (Varview)
                      Functional Consequence:
                      inframe_deletion,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AG=0./0 (ALFA)
                      HGVS:
                      NC_000021.9:g.45514996_45514998del, NC_000021.8:g.46934910_46934912del, NG_028278.2:g.53148_53150del, NM_194255.4:c.*662_*664del, NM_194255.3:c.*662_*664del, NM_194255.2:c.*662_*664del, NM_001205206.4:c.1450_1452del, NM_001205206.3:c.1450_1452del, NM_001205206.2:c.1450_1452del, NM_001205206.1:c.1450_1452del, NM_001205207.3:c.*662_*664del, NM_001205207.2:c.*662_*664del, NM_001205207.1:c.*662_*664del, NM_001352511.3:c.1450_1452del, NM_001352511.2:c.1450_1452del, NM_001352511.1:c.1450_1452del, NM_001352510.2:c.*662_*664del, NM_001352510.1:c.*662_*664del, NM_001352512.2:c.*662_*664del, NM_001352512.1:c.*662_*664del, NG_011903.1:g.114805_114807del, NW_025791815.1:g.132222_132224del, XM_011529706.4:c.*662_*664del, XM_011529706.3:c.*662_*664del, XM_011529706.2:c.*662_*664del, XM_011529706.1:c.*662_*664del, XM_011529696.3:c.*662_*664del, XM_011529696.2:c.*662_*664del, XM_011529696.1:c.*662_*664del, XM_011529698.3:c.*662_*664del, XM_011529698.2:c.*662_*664del, XM_011529698.1:c.*662_*664del, XM_011529700.3:c.*662_*664del, XM_011529700.2:c.*662_*664del, XM_011529700.1:c.*662_*664del, XM_011529703.3:c.*662_*664del, XM_011529703.2:c.*662_*664del, XM_011529703.1:c.*662_*664del, XM_011529702.3:c.*662_*664del, XM_011529702.2:c.*662_*664del, XM_011529702.1:c.*662_*664del, XM_017028443.2:c.*662_*664del, XM_017028443.1:c.*662_*664del, NM_003056.2:c.*662_*664del, XM_047440959.1:c.*662_*664del, XM_047440961.1:c.*662_*664del, XM_047440954.1:c.*662_*664del, XM_047440955.1:c.1516_1518del, XM_047440962.1:c.1330_1332del, XM_047440960.1:c.1450_1452del, XM_047440958.1:c.*662_*664del, XM_047440965.1:c.1096_1098del, NM_003056.1:c.*662_*664del, XM_047440956.1:c.*662_*664del, NP_001192135.1:p.Ser484del, NP_001339440.1:p.Ser484del, XP_047296911.1:p.Ser506del, XP_047296918.1:p.Ser444del, XP_047296916.1:p.Ser484del, XP_047296921.1:p.Ser366del

                      11.

                      rs1480070261 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        21:45537819 (GRCh38)
                        21:46957733 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:45537818:G:A
                        Gene:
                        SLC19A1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000021.9:g.45537819G>A, NC_000021.8:g.46957733G>A, NG_028278.2:g.30325C>T, NM_194255.4:c.141C>T, NM_194255.3:c.141C>T, NM_194255.2:c.141C>T, NM_001205206.4:c.141C>T, NM_001205206.3:c.141C>T, NM_001205206.2:c.141C>T, NM_001205206.1:c.141C>T, NM_001352511.3:c.141C>T, NM_001352511.2:c.141C>T, NM_001352511.1:c.141C>T, NM_001352510.2:c.-218C>T, NM_001352510.1:c.-218C>T, NM_001352512.2:c.141C>T, NM_001352512.1:c.141C>T, NW_025791815.1:g.155045G>A, XM_011529696.3:c.432C>T, XM_011529696.2:c.432C>T, XM_011529696.1:c.432C>T, XM_011529698.3:c.207C>T, XM_011529698.2:c.207C>T, XM_011529698.1:c.207C>T, XM_011529700.3:c.141C>T, XM_011529700.2:c.141C>T, XM_011529700.1:c.141C>T, XM_011529703.3:c.141C>T, XM_011529703.2:c.141C>T, XM_011529703.1:c.141C>T, XM_011529702.3:c.141C>T, XM_011529702.2:c.141C>T, XM_011529702.1:c.141C>T, XM_017028443.2:c.141C>T, XM_017028443.1:c.345C>T, NM_003056.2:c.-218C>T, XM_047440956.1:c.270C>T, XM_047440958.1:c.141C>T, XM_047440955.1:c.207C>T, XM_047440960.1:c.141C>T, XM_047440957.1:c.207C>T, XM_047440963.1:c.141C>T, XM_047440964.1:c.141C>T, NM_003056.1:c.141C>T, XM_047440954.1:c.432C>T, XM_047440965.1:c.-218C>T

                        12.

                        rs1478061984 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          21:45537825 (GRCh38)
                          21:46957739 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:45537824:C:T
                          Gene:
                          SLC19A1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000021.9:g.45537825C>T, NC_000021.8:g.46957739C>T, NG_028278.2:g.30319G>A, NM_194255.4:c.135G>A, NM_194255.3:c.135G>A, NM_194255.2:c.135G>A, NM_001205206.4:c.135G>A, NM_001205206.3:c.135G>A, NM_001205206.2:c.135G>A, NM_001205206.1:c.135G>A, NM_001352511.3:c.135G>A, NM_001352511.2:c.135G>A, NM_001352511.1:c.135G>A, NM_001352510.2:c.-224G>A, NM_001352510.1:c.-224G>A, NM_001352512.2:c.135G>A, NM_001352512.1:c.135G>A, NW_025791815.1:g.155051C>T, XM_011529696.3:c.426G>A, XM_011529696.2:c.426G>A, XM_011529696.1:c.426G>A, XM_011529698.3:c.201G>A, XM_011529698.2:c.201G>A, XM_011529698.1:c.201G>A, XM_011529700.3:c.135G>A, XM_011529700.2:c.135G>A, XM_011529700.1:c.135G>A, XM_011529703.3:c.135G>A, XM_011529703.2:c.135G>A, XM_011529703.1:c.135G>A, XM_011529702.3:c.135G>A, XM_011529702.2:c.135G>A, XM_011529702.1:c.135G>A, XM_017028443.2:c.135G>A, XM_017028443.1:c.339G>A, NM_003056.2:c.-224G>A, XM_047440956.1:c.264G>A, XM_047440958.1:c.135G>A, XM_047440955.1:c.201G>A, XM_047440960.1:c.135G>A, XM_047440957.1:c.201G>A, XM_047440963.1:c.135G>A, XM_047440964.1:c.135G>A, NM_003056.1:c.135G>A, XM_047440954.1:c.426G>A, XM_047440965.1:c.-224G>A

                          13.

                          rs1476161842 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            21:45531455 (GRCh38)
                            21:46951369 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:45531454:C:T
                            Gene:
                            SLC19A1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.45531455C>T, NC_000021.8:g.46951369C>T, NG_028278.2:g.36689G>A, NM_194255.4:c.883G>A, NM_194255.3:c.883G>A, NM_194255.2:c.883G>A, NM_001205206.4:c.883G>A, NM_001205206.3:c.883G>A, NM_001205206.2:c.883G>A, NM_001205206.1:c.883G>A, NM_001205207.3:c.763G>A, NM_001205207.2:c.763G>A, NM_001205207.1:c.763G>A, NM_001352511.3:c.883G>A, NM_001352511.2:c.883G>A, NM_001352511.1:c.883G>A, NM_001352510.2:c.529G>A, NM_001352510.1:c.529G>A, NM_001352512.2:c.883G>A, NM_001352512.1:c.883G>A, NW_025791815.1:g.148681C>T, XM_011529706.4:c.745G>A, XM_011529706.3:c.745G>A, XM_011529706.2:c.745G>A, XM_011529706.1:c.745G>A, XM_011529696.3:c.1174G>A, XM_011529696.2:c.1174G>A, XM_011529696.1:c.1174G>A, XM_011529698.3:c.949G>A, XM_011529698.2:c.949G>A, XM_011529698.1:c.949G>A, XM_011529700.3:c.883G>A, XM_011529700.2:c.883G>A, XM_011529700.1:c.883G>A, XM_011529703.3:c.883G>A, XM_011529703.2:c.883G>A, XM_011529703.1:c.883G>A, NM_003056.2:c.529G>A, XM_011529702.3:c.883G>A, XM_011529702.2:c.883G>A, XM_011529702.1:c.883G>A, XM_017028443.2:c.883G>A, XM_017028443.1:c.1087G>A, XM_047440956.1:c.1012G>A, XM_047440954.1:c.1174G>A, XM_047440958.1:c.883G>A, XM_047440960.1:c.883G>A, XM_047440965.1:c.529G>A, XM_047440963.1:c.883G>A, XM_047440961.1:c.529G>A, XM_047440964.1:c.883G>A, NM_003056.1:c.883G>A, XM_047440959.1:c.745G>A, XM_047440955.1:c.949G>A, XM_047440962.1:c.763G>A, XM_047440957.1:c.949G>A, NP_919231.1:p.Val295Met, NP_001192135.1:p.Val295Met, NP_001192136.1:p.Val255Met, NP_001339440.1:p.Val295Met, NP_001339439.1:p.Val177Met, NP_001339441.1:p.Val295Met, XP_011528008.1:p.Val249Met, XP_011527998.1:p.Val392Met, XP_011528000.1:p.Val317Met, XP_011528002.1:p.Val295Met, XP_011528005.1:p.Val295Met, XP_011528004.1:p.Val295Met, XP_016883932.2:p.Val295Met, XP_047296912.1:p.Val338Met, XP_047296910.1:p.Val392Met, XP_047296914.1:p.Val295Met, XP_047296916.1:p.Val295Met, XP_047296921.1:p.Val177Met, XP_047296919.1:p.Val295Met, XP_047296917.1:p.Val177Met, XP_047296920.1:p.Val295Met, XP_047296915.1:p.Val249Met, XP_047296911.1:p.Val317Met, XP_047296918.1:p.Val255Met, XP_047296913.1:p.Val317Met

                            14.

                            rs1475178734 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              21:45530886 (GRCh38)
                              21:46950800 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:45530885:C:T
                              Gene:
                              SLC19A1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000015/2 (GnomAD_exomes)
                              HGVS:
                              NC_000021.9:g.45530886C>T, NC_000021.8:g.46950800C>T, NG_028278.2:g.37258G>A, NM_194255.4:c.1035G>A, NM_194255.3:c.1035G>A, NM_194255.2:c.1035G>A, NM_001205206.4:c.1035G>A, NM_001205206.3:c.1035G>A, NM_001205206.2:c.1035G>A, NM_001205206.1:c.1035G>A, NM_001205207.3:c.915G>A, NM_001205207.2:c.915G>A, NM_001205207.1:c.915G>A, NM_001352511.3:c.1035G>A, NM_001352511.2:c.1035G>A, NM_001352511.1:c.1035G>A, NM_001352510.2:c.681G>A, NM_001352510.1:c.681G>A, NM_001352512.2:c.1035G>A, NM_001352512.1:c.1035G>A, NW_025791815.1:g.148112C>T, XM_011529706.4:c.897G>A, XM_011529706.3:c.897G>A, XM_011529706.2:c.897G>A, XM_011529706.1:c.897G>A, XM_011529696.3:c.1326G>A, XM_011529696.2:c.1326G>A, XM_011529696.1:c.1326G>A, XM_011529698.3:c.1101G>A, XM_011529698.2:c.1101G>A, XM_011529698.1:c.1101G>A, XM_011529700.3:c.1035G>A, XM_011529700.2:c.1035G>A, XM_011529700.1:c.1035G>A, XM_011529703.3:c.1035G>A, XM_011529703.2:c.1035G>A, XM_011529703.1:c.1035G>A, NM_003056.2:c.681G>A, XM_011529702.3:c.1035G>A, XM_011529702.2:c.1035G>A, XM_011529702.1:c.1035G>A, XM_017028443.2:c.1035G>A, XM_017028443.1:c.1239G>A, XM_047440956.1:c.1164G>A, XM_047440954.1:c.1326G>A, XM_047440958.1:c.1035G>A, XM_047440960.1:c.1035G>A, XM_047440965.1:c.681G>A, XM_047440963.1:c.1035G>A, XM_047440961.1:c.681G>A, XM_047440964.1:c.1035G>A, NM_003056.1:c.1035G>A, XM_047440959.1:c.897G>A, XM_047440955.1:c.1101G>A, XM_047440962.1:c.915G>A, XM_047440957.1:c.1101G>A

                              15.

                              rs1474434132 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                21:45530804 (GRCh38)
                                21:46950718 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:45530803:G:A
                                Gene:
                                SLC19A1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000029/1 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000021.9:g.45530804G>A, NC_000021.8:g.46950718G>A, NG_028278.2:g.37340C>T, NM_194255.4:c.1117C>T, NM_194255.3:c.1117C>T, NM_194255.2:c.1117C>T, NM_001205206.4:c.1117C>T, NM_001205206.3:c.1117C>T, NM_001205206.2:c.1117C>T, NM_001205206.1:c.1117C>T, NM_001205207.3:c.997C>T, NM_001205207.2:c.997C>T, NM_001205207.1:c.997C>T, NM_001352511.3:c.1117C>T, NM_001352511.2:c.1117C>T, NM_001352511.1:c.1117C>T, NM_001352510.2:c.763C>T, NM_001352510.1:c.763C>T, NM_001352512.2:c.1117C>T, NM_001352512.1:c.1117C>T, NW_025791815.1:g.148030G>A, XM_011529706.4:c.979C>T, XM_011529706.3:c.979C>T, XM_011529706.2:c.979C>T, XM_011529706.1:c.979C>T, XM_011529696.3:c.1408C>T, XM_011529696.2:c.1408C>T, XM_011529696.1:c.1408C>T, XM_011529698.3:c.1183C>T, XM_011529698.2:c.1183C>T, XM_011529698.1:c.1183C>T, XM_011529700.3:c.1117C>T, XM_011529700.2:c.1117C>T, XM_011529700.1:c.1117C>T, XM_011529703.3:c.1117C>T, XM_011529703.2:c.1117C>T, XM_011529703.1:c.1117C>T, NM_003056.2:c.763C>T, XM_011529702.3:c.1117C>T, XM_011529702.2:c.1117C>T, XM_011529702.1:c.1117C>T, XM_017028443.2:c.1117C>T, XM_017028443.1:c.1321C>T, XM_047440956.1:c.1246C>T, XM_047440954.1:c.1408C>T, XM_047440958.1:c.1117C>T, XM_047440960.1:c.1117C>T, XM_047440965.1:c.763C>T, XM_047440963.1:c.1117C>T, XM_047440961.1:c.763C>T, XM_047440964.1:c.1117C>T, NM_003056.1:c.1117C>T, XM_047440959.1:c.979C>T, XM_047440955.1:c.1183C>T, XM_047440962.1:c.997C>T, XM_047440957.1:c.1183C>T, NP_919231.1:p.Arg373Cys, NP_001192135.1:p.Arg373Cys, NP_001192136.1:p.Arg333Cys, NP_001339440.1:p.Arg373Cys, NP_001339439.1:p.Arg255Cys, NP_001339441.1:p.Arg373Cys, XP_011528008.1:p.Arg327Cys, XP_011527998.1:p.Arg470Cys, XP_011528000.1:p.Arg395Cys, XP_011528002.1:p.Arg373Cys, XP_011528005.1:p.Arg373Cys, XP_011528004.1:p.Arg373Cys, XP_016883932.2:p.Arg373Cys, XP_047296912.1:p.Arg416Cys, XP_047296910.1:p.Arg470Cys, XP_047296914.1:p.Arg373Cys, XP_047296916.1:p.Arg373Cys, XP_047296921.1:p.Arg255Cys, XP_047296919.1:p.Arg373Cys, XP_047296917.1:p.Arg255Cys, XP_047296920.1:p.Arg373Cys, XP_047296915.1:p.Arg327Cys, XP_047296911.1:p.Arg395Cys, XP_047296918.1:p.Arg333Cys, XP_047296913.1:p.Arg395Cys

                                16.

                                rs1473719777 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  21:45532013 (GRCh38)
                                  21:46951927 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:45532012:G:A
                                  Gene:
                                  SLC19A1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000017/4 (GnomAD_exomes)
                                  HGVS:
                                  NC_000021.9:g.45532013G>A, NC_000021.8:g.46951927G>A, NG_028278.2:g.36131C>T, NM_194255.4:c.325C>T, NM_194255.3:c.325C>T, NM_194255.2:c.325C>T, NM_001205206.4:c.325C>T, NM_001205206.3:c.325C>T, NM_001205206.2:c.325C>T, NM_001205206.1:c.325C>T, NM_001205207.3:c.205C>T, NM_001205207.2:c.205C>T, NM_001205207.1:c.205C>T, NM_001352511.3:c.325C>T, NM_001352511.2:c.325C>T, NM_001352511.1:c.325C>T, NM_001352510.2:c.-30C>T, NM_001352510.1:c.-30C>T, NM_001352512.2:c.325C>T, NM_001352512.1:c.325C>T, NW_025791815.1:g.149239G>A, XM_011529706.4:c.187C>T, XM_011529706.3:c.187C>T, XM_011529706.2:c.187C>T, XM_011529706.1:c.187C>T, XM_011529696.3:c.616C>T, XM_011529696.2:c.616C>T, XM_011529696.1:c.616C>T, XM_011529698.3:c.391C>T, XM_011529698.2:c.391C>T, XM_011529698.1:c.391C>T, XM_011529700.3:c.325C>T, XM_011529700.2:c.325C>T, XM_011529700.1:c.325C>T, XM_011529703.3:c.325C>T, XM_011529703.2:c.325C>T, XM_011529703.1:c.325C>T, NM_003056.2:c.-30C>T, XM_011529702.3:c.325C>T, XM_011529702.2:c.325C>T, XM_011529702.1:c.325C>T, XM_017028443.2:c.325C>T, XM_017028443.1:c.529C>T, XM_047440956.1:c.454C>T, XM_047440954.1:c.616C>T, XM_047440958.1:c.325C>T, XM_047440960.1:c.325C>T, XM_047440965.1:c.-30C>T, XM_047440963.1:c.325C>T, XM_047440961.1:c.-30C>T, XM_047440964.1:c.325C>T, NM_003056.1:c.325C>T, XM_047440959.1:c.187C>T, XM_047440955.1:c.391C>T, XM_047440962.1:c.205C>T, XM_047440957.1:c.391C>T

                                  17.

                                  rs1473140778 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    21:45537911 (GRCh38)
                                    21:46957825 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:45537910:C:T
                                    Gene:
                                    SLC19A1 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_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_000021.9:g.45537911C>T, NC_000021.8:g.46957825C>T, NG_028278.2:g.30233G>A, NM_194255.4:c.49G>A, NM_194255.3:c.49G>A, NM_194255.2:c.49G>A, NM_001205206.4:c.49G>A, NM_001205206.3:c.49G>A, NM_001205206.2:c.49G>A, NM_001205206.1:c.49G>A, NM_001352511.3:c.49G>A, NM_001352511.2:c.49G>A, NM_001352511.1:c.49G>A, NM_001352510.2:c.-310G>A, NM_001352510.1:c.-310G>A, NM_001352512.2:c.49G>A, NM_001352512.1:c.49G>A, NW_025791815.1:g.155137C>T, XM_011529696.3:c.340G>A, XM_011529696.2:c.340G>A, XM_011529696.1:c.340G>A, XM_011529698.3:c.115G>A, XM_011529698.2:c.115G>A, XM_011529698.1:c.115G>A, XM_011529700.3:c.49G>A, XM_011529700.2:c.49G>A, XM_011529700.1:c.49G>A, XM_011529703.3:c.49G>A, XM_011529703.2:c.49G>A, XM_011529703.1:c.49G>A, XM_011529702.3:c.49G>A, XM_011529702.2:c.49G>A, XM_011529702.1:c.49G>A, XM_017028443.2:c.49G>A, XM_017028443.1:c.253G>A, NM_003056.2:c.-310G>A, XM_047440956.1:c.178G>A, XM_047440958.1:c.49G>A, XM_047440955.1:c.115G>A, XM_047440960.1:c.49G>A, XM_047440957.1:c.115G>A, XM_047440963.1:c.49G>A, XM_047440964.1:c.49G>A, NM_003056.1:c.49G>A, XM_047440954.1:c.340G>A, XM_047440965.1:c.-310G>A, NP_919231.1:p.Gly17Arg, NP_001192135.1:p.Gly17Arg, NP_001339440.1:p.Gly17Arg, NP_001339441.1:p.Gly17Arg, XP_011527998.1:p.Gly114Arg, XP_011528000.1:p.Gly39Arg, XP_011528002.1:p.Gly17Arg, XP_011528005.1:p.Gly17Arg, XP_011528004.1:p.Gly17Arg, XP_016883932.2:p.Gly17Arg, XP_047296912.1:p.Gly60Arg, XP_047296914.1:p.Gly17Arg, XP_047296911.1:p.Gly39Arg, XP_047296916.1:p.Gly17Arg, XP_047296913.1:p.Gly39Arg, XP_047296919.1:p.Gly17Arg, XP_047296920.1:p.Gly17Arg, XP_047296910.1:p.Gly114Arg

                                    18.

                                    rs1472964953 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      21:45515150 (GRCh38)
                                      21:46935064 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:45515149:A:C
                                      Gene:
                                      SLC19A1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.00001/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000021.9:g.45515150A>C, NC_000021.8:g.46935064A>C, NG_028278.2:g.52994T>G, NM_194255.4:c.*508T>G, NM_194255.3:c.*508T>G, NM_194255.2:c.*508T>G, NM_001205206.4:c.1296T>G, NM_001205206.3:c.1296T>G, NM_001205206.2:c.1296T>G, NM_001205206.1:c.1296T>G, NM_001205207.3:c.*508T>G, NM_001205207.2:c.*508T>G, NM_001205207.1:c.*508T>G, NM_001352511.3:c.1296T>G, NM_001352511.2:c.1296T>G, NM_001352511.1:c.1296T>G, NM_001352510.2:c.*508T>G, NM_001352510.1:c.*508T>G, NM_001352512.2:c.*508T>G, NM_001352512.1:c.*508T>G, NG_011903.1:g.114959A>C, NW_025791815.1:g.132376A>C, XM_011529706.4:c.*508T>G, XM_011529706.3:c.*508T>G, XM_011529706.2:c.*508T>G, XM_011529706.1:c.*508T>G, XM_011529696.3:c.*508T>G, XM_011529696.2:c.*508T>G, XM_011529696.1:c.*508T>G, XM_011529698.3:c.*508T>G, XM_011529698.2:c.*508T>G, XM_011529698.1:c.*508T>G, XM_011529700.3:c.*508T>G, XM_011529700.2:c.*508T>G, XM_011529700.1:c.*508T>G, XM_011529703.3:c.*508T>G, XM_011529703.2:c.*508T>G, XM_011529703.1:c.*508T>G, XM_011529702.3:c.*508T>G, XM_011529702.2:c.*508T>G, XM_011529702.1:c.*508T>G, XM_017028443.2:c.*508T>G, XM_017028443.1:c.*508T>G, NM_003056.2:c.*508T>G, XM_047440959.1:c.*508T>G, XM_047440961.1:c.*508T>G, XM_047440954.1:c.*508T>G, XM_047440955.1:c.1362T>G, XM_047440962.1:c.1176T>G, XM_047440960.1:c.1296T>G, XM_047440958.1:c.*508T>G, XM_047440965.1:c.942T>G, NM_003056.1:c.*508T>G, XM_047440956.1:c.*508T>G, NP_001192135.1:p.Asn432Lys, NP_001339440.1:p.Asn432Lys, XP_047296911.1:p.Asn454Lys, XP_047296918.1:p.Asn392Lys, XP_047296916.1:p.Asn432Lys, XP_047296921.1:p.Asn314Lys

                                      19.

                                      rs1472934719 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        21:45515064 (GRCh38)
                                        21:46934978 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:45515063:C:G,NC_000021.9:45515063:C:T
                                        Gene:
                                        SLC19A1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.00004/1 (TOMMO)
                                        HGVS:
                                        NC_000021.9:g.45515064C>G, NC_000021.9:g.45515064C>T, NC_000021.8:g.46934978C>G, NC_000021.8:g.46934978C>T, NG_028278.2:g.53080G>C, NG_028278.2:g.53080G>A, NM_194255.4:c.*594G>C, NM_194255.4:c.*594G>A, NM_194255.3:c.*594G>C, NM_194255.3:c.*594G>A, NM_194255.2:c.*594G>C, NM_194255.2:c.*594G>A, NM_001205206.4:c.1382G>C, NM_001205206.4:c.1382G>A, NM_001205206.3:c.1382G>C, NM_001205206.3:c.1382G>A, NM_001205206.2:c.1382G>C, NM_001205206.2:c.1382G>A, NM_001205206.1:c.1382G>C, NM_001205206.1:c.1382G>A, NM_001205207.3:c.*594G>C, NM_001205207.3:c.*594G>A, NM_001205207.2:c.*594G>C, NM_001205207.2:c.*594G>A, NM_001205207.1:c.*594G>C, NM_001205207.1:c.*594G>A, NM_001352511.3:c.1382G>C, NM_001352511.3:c.1382G>A, NM_001352511.2:c.1382G>C, NM_001352511.2:c.1382G>A, NM_001352511.1:c.1382G>C, NM_001352511.1:c.1382G>A, NM_001352510.2:c.*594G>C, NM_001352510.2:c.*594G>A, NM_001352510.1:c.*594G>C, NM_001352510.1:c.*594G>A, NM_001352512.2:c.*594G>C, NM_001352512.2:c.*594G>A, NM_001352512.1:c.*594G>C, NM_001352512.1:c.*594G>A, NG_011903.1:g.114873C>G, NG_011903.1:g.114873C>T, NW_025791815.1:g.132290C>G, NW_025791815.1:g.132290C>T, XM_011529706.4:c.*594G>C, XM_011529706.4:c.*594G>A, XM_011529706.3:c.*594G>C, XM_011529706.3:c.*594G>A, XM_011529706.2:c.*594G>C, XM_011529706.2:c.*594G>A, XM_011529706.1:c.*594G>C, XM_011529706.1:c.*594G>A, XM_011529696.3:c.*594G>C, XM_011529696.3:c.*594G>A, XM_011529696.2:c.*594G>C, XM_011529696.2:c.*594G>A, XM_011529696.1:c.*594G>C, XM_011529696.1:c.*594G>A, XM_011529698.3:c.*594G>C, XM_011529698.3:c.*594G>A, XM_011529698.2:c.*594G>C, XM_011529698.2:c.*594G>A, XM_011529698.1:c.*594G>C, XM_011529698.1:c.*594G>A, XM_011529700.3:c.*594G>C, XM_011529700.3:c.*594G>A, XM_011529700.2:c.*594G>C, XM_011529700.2:c.*594G>A, XM_011529700.1:c.*594G>C, XM_011529700.1:c.*594G>A, XM_011529703.3:c.*594G>C, XM_011529703.3:c.*594G>A, XM_011529703.2:c.*594G>C, XM_011529703.2:c.*594G>A, XM_011529703.1:c.*594G>C, XM_011529703.1:c.*594G>A, XM_011529702.3:c.*594G>C, XM_011529702.3:c.*594G>A, XM_011529702.2:c.*594G>C, XM_011529702.2:c.*594G>A, XM_011529702.1:c.*594G>C, XM_011529702.1:c.*594G>A, XM_017028443.2:c.*594G>C, XM_017028443.2:c.*594G>A, XM_017028443.1:c.*594G>C, XM_017028443.1:c.*594G>A, NM_003056.2:c.*594G>C, NM_003056.2:c.*594G>A, XM_047440959.1:c.*594G>C, XM_047440959.1:c.*594G>A, XM_047440961.1:c.*594G>C, XM_047440961.1:c.*594G>A, XM_047440954.1:c.*594G>C, XM_047440954.1:c.*594G>A, XM_047440955.1:c.1448G>C, XM_047440955.1:c.1448G>A, XM_047440962.1:c.1262G>C, XM_047440962.1:c.1262G>A, XM_047440960.1:c.1382G>C, XM_047440960.1:c.1382G>A, XM_047440958.1:c.*594G>C, XM_047440958.1:c.*594G>A, XM_047440965.1:c.1028G>C, XM_047440965.1:c.1028G>A, NM_003056.1:c.*594G>C, NM_003056.1:c.*594G>A, XM_047440956.1:c.*594G>C, XM_047440956.1:c.*594G>A, NP_001192135.1:p.Gly461Ala, NP_001192135.1:p.Gly461Asp, NP_001339440.1:p.Gly461Ala, NP_001339440.1:p.Gly461Asp, XP_047296911.1:p.Gly483Ala, XP_047296911.1:p.Gly483Asp, XP_047296918.1:p.Gly421Ala, XP_047296918.1:p.Gly421Asp, XP_047296916.1:p.Gly461Ala, XP_047296916.1:p.Gly461Asp, XP_047296921.1:p.Gly343Ala, XP_047296921.1:p.Gly343Asp

                                        20.

                                        rs1468926685 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          21:45530946 (GRCh38)
                                          21:46950860 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:45530945:G:A
                                          Gene:
                                          SLC19A1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          A=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000021.9:g.45530946G>A, NC_000021.8:g.46950860G>A, NG_028278.2:g.37198C>T, NM_194255.4:c.975C>T, NM_194255.3:c.975C>T, NM_194255.2:c.975C>T, NM_001205206.4:c.975C>T, NM_001205206.3:c.975C>T, NM_001205206.2:c.975C>T, NM_001205206.1:c.975C>T, NM_001205207.3:c.855C>T, NM_001205207.2:c.855C>T, NM_001205207.1:c.855C>T, NM_001352511.3:c.975C>T, NM_001352511.2:c.975C>T, NM_001352511.1:c.975C>T, NM_001352510.2:c.621C>T, NM_001352510.1:c.621C>T, NM_001352512.2:c.975C>T, NM_001352512.1:c.975C>T, NW_025791815.1:g.148172G>A, XM_011529706.4:c.837C>T, XM_011529706.3:c.837C>T, XM_011529706.2:c.837C>T, XM_011529706.1:c.837C>T, XM_011529696.3:c.1266C>T, XM_011529696.2:c.1266C>T, XM_011529696.1:c.1266C>T, XM_011529698.3:c.1041C>T, XM_011529698.2:c.1041C>T, XM_011529698.1:c.1041C>T, XM_011529700.3:c.975C>T, XM_011529700.2:c.975C>T, XM_011529700.1:c.975C>T, XM_011529703.3:c.975C>T, XM_011529703.2:c.975C>T, XM_011529703.1:c.975C>T, NM_003056.2:c.621C>T, XM_011529702.3:c.975C>T, XM_011529702.2:c.975C>T, XM_011529702.1:c.975C>T, XM_017028443.2:c.975C>T, XM_017028443.1:c.1179C>T, XM_047440956.1:c.1104C>T, XM_047440954.1:c.1266C>T, XM_047440958.1:c.975C>T, XM_047440960.1:c.975C>T, XM_047440965.1:c.621C>T, XM_047440963.1:c.975C>T, XM_047440961.1:c.621C>T, XM_047440964.1:c.975C>T, NM_003056.1:c.975C>T, XM_047440959.1:c.837C>T, XM_047440955.1:c.1041C>T, XM_047440962.1:c.855C>T, XM_047440957.1:c.1041C>T

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