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Items: 1 to 20 of 388

1.

rs1484917594 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:46197785 (GRCh38)
    12:46591568 (GRCh37)
    Canonical SPDI:
    NC_000012.12:46197784:G:A
    Gene:
    SLC38A1 (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_000012.12:g.46197785G>A, NC_000012.11:g.46591568G>A, NM_030674.4:c.1297C>T, NM_030674.3:c.1297C>T, XM_011538786.3:c.1297C>T, XM_011538786.2:c.1297C>T, XM_011538786.1:c.1297C>T, XM_011538787.3:c.1297C>T, XM_011538787.2:c.1297C>T, XM_011538787.1:c.1297C>T, XM_011538784.3:c.1297C>T, XM_011538784.2:c.1297C>T, XM_011538784.1:c.1297C>T, NM_001278387.2:c.1297C>T, NM_001278387.1:c.1297C>T, NM_001278388.2:c.1297C>T, NM_001278388.1:c.1297C>T, NM_001077484.2:c.1297C>T, NM_001077484.1:c.1297C>T, NM_001278389.2:c.1297C>T, NM_001278389.1:c.1297C>T, XM_017019990.2:c.1297C>T, XM_017019990.1:c.1297C>T, XM_047429597.1:c.1297C>T, XM_047429592.1:c.1297C>T, XM_047429594.1:c.1297C>T, XM_047429591.1:c.1297C>T, XM_047429588.1:c.1297C>T, XM_047429596.1:c.1297C>T, XM_047429595.1:c.1297C>T, XM_047429598.1:c.1297C>T, XM_047429593.1:c.1297C>T, XM_047429590.1:c.1297C>T, XM_047429589.1:c.1297C>T, XM_047429601.1:c.1297C>T, XM_047429610.1:c.1297C>T, XM_047429600.1:c.1297C>T, XM_047429608.1:c.1297C>T, XM_047429612.1:c.1297C>T, XM_047429599.1:c.1297C>T, XM_047429603.1:c.1297C>T, XM_047429611.1:c.1297C>T, XM_047429602.1:c.1297C>T, XM_047429609.1:c.1297C>T, XM_047429605.1:c.1297C>T, XM_047429616.1:c.1297C>T, XM_047429604.1:c.1297C>T, XM_047429613.1:c.1297C>T, XM_047429606.1:c.1297C>T, XM_047429607.1:c.1297C>T, XM_047429577.1:c.1297C>T, XM_047429614.1:c.1297C>T, XM_047429615.1:c.1297C>T, XM_047429576.1:c.1297C>T, XM_047429581.1:c.1297C>T, XM_047429575.1:c.1297C>T, XM_047429580.1:c.1297C>T, XM_047429587.1:c.1297C>T, XM_047429578.1:c.1297C>T, XM_047429582.1:c.1297C>T, XM_047429586.1:c.1297C>T, XM_047429583.1:c.1297C>T, XM_047429579.1:c.1297C>T, XM_047429584.1:c.1297C>T, XM_047429585.1:c.1297C>T, NM_001278390.1:c.1297C>T, NP_109599.3:p.Leu433Phe, XP_011537088.1:p.Leu433Phe, XP_011537089.1:p.Leu433Phe, XP_011537086.1:p.Leu433Phe, NP_001265316.1:p.Leu433Phe, NP_001265317.1:p.Leu433Phe, NP_001070952.1:p.Leu433Phe, NP_001265318.1:p.Leu433Phe, XP_016875479.1:p.Leu433Phe, XP_047285553.1:p.Leu433Phe, XP_047285548.1:p.Leu433Phe, XP_047285550.1:p.Leu433Phe, XP_047285547.1:p.Leu433Phe, XP_047285544.1:p.Leu433Phe, XP_047285552.1:p.Leu433Phe, XP_047285551.1:p.Leu433Phe, XP_047285554.1:p.Leu433Phe, XP_047285549.1:p.Leu433Phe, XP_047285546.1:p.Leu433Phe, XP_047285545.1:p.Leu433Phe, XP_047285557.1:p.Leu433Phe, XP_047285566.1:p.Leu433Phe, XP_047285556.1:p.Leu433Phe, XP_047285564.1:p.Leu433Phe, XP_047285568.1:p.Leu433Phe, XP_047285555.1:p.Leu433Phe, XP_047285559.1:p.Leu433Phe, XP_047285567.1:p.Leu433Phe, XP_047285558.1:p.Leu433Phe, XP_047285565.1:p.Leu433Phe, XP_047285561.1:p.Leu433Phe, XP_047285572.1:p.Leu433Phe, XP_047285560.1:p.Leu433Phe, XP_047285569.1:p.Leu433Phe, XP_047285562.1:p.Leu433Phe, XP_047285563.1:p.Leu433Phe, XP_047285533.1:p.Leu433Phe, XP_047285570.1:p.Leu433Phe, XP_047285571.1:p.Leu433Phe, XP_047285532.1:p.Leu433Phe, XP_047285537.1:p.Leu433Phe, XP_047285531.1:p.Leu433Phe, XP_047285536.1:p.Leu433Phe, XP_047285543.1:p.Leu433Phe, XP_047285534.1:p.Leu433Phe, XP_047285538.1:p.Leu433Phe, XP_047285542.1:p.Leu433Phe, XP_047285539.1:p.Leu433Phe, XP_047285535.1:p.Leu433Phe, XP_047285540.1:p.Leu433Phe, XP_047285541.1:p.Leu433Phe, NP_001265319.1:p.Leu433Phe

    2.

    rs1483977139 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:46189032 (GRCh38)
      12:46582815 (GRCh37)
      Canonical SPDI:
      NC_000012.12:46189031:C:T
      Gene:
      SLC38A1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.46189032C>T, NC_000012.11:g.46582815C>T, NM_030674.4:c.1402G>A, NM_030674.3:c.1402G>A, NM_001278387.2:c.1402G>A, NM_001278387.1:c.1402G>A, NM_001278388.2:c.1402G>A, NM_001278388.1:c.1402G>A, NM_001077484.2:c.1402G>A, NM_001077484.1:c.1402G>A, NM_001278389.2:c.1402G>A, NM_001278389.1:c.1402G>A, XM_047429597.1:c.1402G>A, XM_047429592.1:c.1402G>A, XM_047429594.1:c.1402G>A, XM_047429591.1:c.1402G>A, XM_047429588.1:c.1402G>A, XM_047429596.1:c.1402G>A, XM_047429595.1:c.1402G>A, XM_047429598.1:c.1402G>A, XM_047429593.1:c.1402G>A, XM_047429590.1:c.1402G>A, XM_047429589.1:c.1402G>A, NP_109599.3:p.Val468Ile, NP_001265316.1:p.Val468Ile, NP_001265317.1:p.Val468Ile, NP_001070952.1:p.Val468Ile, NP_001265318.1:p.Val468Ile, XP_047285553.1:p.Val468Ile, XP_047285548.1:p.Val468Ile, XP_047285550.1:p.Val468Ile, XP_047285547.1:p.Val468Ile, XP_047285544.1:p.Val468Ile, XP_047285552.1:p.Val468Ile, XP_047285551.1:p.Val468Ile, XP_047285554.1:p.Val468Ile, XP_047285549.1:p.Val468Ile, XP_047285546.1:p.Val468Ile, XP_047285545.1:p.Val468Ile

      3.

      rs1483572632 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:46197927 (GRCh38)
        12:46591710 (GRCh37)
        Canonical SPDI:
        NC_000012.12:46197926:C:T
        Gene:
        SLC38A1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_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_000012.12:g.46197927C>T, NC_000012.11:g.46591710C>T, NM_030674.4:c.1256G>A, NM_030674.3:c.1256G>A, XM_011538786.3:c.1256G>A, XM_011538786.2:c.1256G>A, XM_011538786.1:c.1256G>A, XM_011538787.3:c.1256G>A, XM_011538787.2:c.1256G>A, XM_011538787.1:c.1256G>A, XM_011538784.3:c.1256G>A, XM_011538784.2:c.1256G>A, XM_011538784.1:c.1256G>A, NM_001278387.2:c.1256G>A, NM_001278387.1:c.1256G>A, NM_001278388.2:c.1256G>A, NM_001278388.1:c.1256G>A, NM_001077484.2:c.1256G>A, NM_001077484.1:c.1256G>A, NM_001278389.2:c.1256G>A, NM_001278389.1:c.1256G>A, XM_017019990.2:c.1256G>A, XM_017019990.1:c.1256G>A, XM_047429597.1:c.1256G>A, XM_047429592.1:c.1256G>A, XM_047429594.1:c.1256G>A, XM_047429591.1:c.1256G>A, XM_047429588.1:c.1256G>A, XM_047429596.1:c.1256G>A, XM_047429595.1:c.1256G>A, XM_047429598.1:c.1256G>A, XM_047429593.1:c.1256G>A, XM_047429590.1:c.1256G>A, XM_047429589.1:c.1256G>A, XM_047429601.1:c.1256G>A, XM_047429610.1:c.1256G>A, XM_047429600.1:c.1256G>A, XM_047429608.1:c.1256G>A, XM_047429612.1:c.1256G>A, XM_047429599.1:c.1256G>A, XM_047429603.1:c.1256G>A, XM_047429611.1:c.1256G>A, XM_047429602.1:c.1256G>A, XM_047429609.1:c.1256G>A, XM_047429605.1:c.1256G>A, XM_047429616.1:c.1256G>A, XM_047429604.1:c.1256G>A, XM_047429613.1:c.1256G>A, XM_047429606.1:c.1256G>A, XM_047429607.1:c.1256G>A, XM_047429577.1:c.1256G>A, XM_047429614.1:c.1256G>A, XM_047429615.1:c.1256G>A, XM_047429576.1:c.1256G>A, XM_047429581.1:c.1256G>A, XM_047429575.1:c.1256G>A, XM_047429580.1:c.1256G>A, XM_047429587.1:c.1256G>A, XM_047429578.1:c.1256G>A, XM_047429582.1:c.1256G>A, XM_047429586.1:c.1256G>A, XM_047429583.1:c.1256G>A, XM_047429579.1:c.1256G>A, XM_047429584.1:c.1256G>A, XM_047429585.1:c.1256G>A, NM_001278390.1:c.1256G>A, NP_109599.3:p.Gly419Glu, XP_011537088.1:p.Gly419Glu, XP_011537089.1:p.Gly419Glu, XP_011537086.1:p.Gly419Glu, NP_001265316.1:p.Gly419Glu, NP_001265317.1:p.Gly419Glu, NP_001070952.1:p.Gly419Glu, NP_001265318.1:p.Gly419Glu, XP_016875479.1:p.Gly419Glu, XP_047285553.1:p.Gly419Glu, XP_047285548.1:p.Gly419Glu, XP_047285550.1:p.Gly419Glu, XP_047285547.1:p.Gly419Glu, XP_047285544.1:p.Gly419Glu, XP_047285552.1:p.Gly419Glu, XP_047285551.1:p.Gly419Glu, XP_047285554.1:p.Gly419Glu, XP_047285549.1:p.Gly419Glu, XP_047285546.1:p.Gly419Glu, XP_047285545.1:p.Gly419Glu, XP_047285557.1:p.Gly419Glu, XP_047285566.1:p.Gly419Glu, XP_047285556.1:p.Gly419Glu, XP_047285564.1:p.Gly419Glu, XP_047285568.1:p.Gly419Glu, XP_047285555.1:p.Gly419Glu, XP_047285559.1:p.Gly419Glu, XP_047285567.1:p.Gly419Glu, XP_047285558.1:p.Gly419Glu, XP_047285565.1:p.Gly419Glu, XP_047285561.1:p.Gly419Glu, XP_047285572.1:p.Gly419Glu, XP_047285560.1:p.Gly419Glu, XP_047285569.1:p.Gly419Glu, XP_047285562.1:p.Gly419Glu, XP_047285563.1:p.Gly419Glu, XP_047285533.1:p.Gly419Glu, XP_047285570.1:p.Gly419Glu, XP_047285571.1:p.Gly419Glu, XP_047285532.1:p.Gly419Glu, XP_047285537.1:p.Gly419Glu, XP_047285531.1:p.Gly419Glu, XP_047285536.1:p.Gly419Glu, XP_047285543.1:p.Gly419Glu, XP_047285534.1:p.Gly419Glu, XP_047285538.1:p.Gly419Glu, XP_047285542.1:p.Gly419Glu, XP_047285539.1:p.Gly419Glu, XP_047285535.1:p.Gly419Glu, XP_047285540.1:p.Gly419Glu, XP_047285541.1:p.Gly419Glu, NP_001265319.1:p.Gly419Glu

        4.

        rs1479986058 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          12:46201129 (GRCh38)
          12:46594912 (GRCh37)
          Canonical SPDI:
          NC_000012.12:46201128:C:G
          Gene:
          SLC38A1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000047/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.46201129C>G, NC_000012.11:g.46594912C>G, NM_030674.4:c.972G>C, NM_030674.3:c.972G>C, XM_011538786.3:c.972G>C, XM_011538786.2:c.972G>C, XM_011538786.1:c.972G>C, XM_011538787.3:c.972G>C, XM_011538787.2:c.972G>C, XM_011538787.1:c.972G>C, XM_011538784.3:c.972G>C, XM_011538784.2:c.972G>C, XM_011538784.1:c.972G>C, NM_001278387.2:c.972G>C, NM_001278387.1:c.972G>C, NM_001278388.2:c.972G>C, NM_001278388.1:c.972G>C, NM_001077484.2:c.972G>C, NM_001077484.1:c.972G>C, NM_001278389.2:c.972G>C, NM_001278389.1:c.972G>C, XM_017019990.2:c.972G>C, XM_017019990.1:c.972G>C, XM_047429597.1:c.972G>C, XM_047429592.1:c.972G>C, XM_047429594.1:c.972G>C, XM_047429591.1:c.972G>C, XM_047429588.1:c.972G>C, XM_047429596.1:c.972G>C, XM_047429595.1:c.972G>C, XM_047429598.1:c.972G>C, XM_047429593.1:c.972G>C, XM_047429590.1:c.972G>C, XM_047429589.1:c.972G>C, XM_047429601.1:c.972G>C, XM_047429610.1:c.972G>C, XM_047429600.1:c.972G>C, XM_047429608.1:c.972G>C, XM_047429612.1:c.972G>C, XM_047429599.1:c.972G>C, XM_047429603.1:c.972G>C, XM_047429611.1:c.972G>C, XM_047429602.1:c.972G>C, XM_047429609.1:c.972G>C, XM_047429605.1:c.972G>C, XM_047429616.1:c.972G>C, XM_047429604.1:c.972G>C, XM_047429613.1:c.972G>C, XM_047429606.1:c.972G>C, XM_047429607.1:c.972G>C, XM_047429577.1:c.972G>C, XM_047429614.1:c.972G>C, XM_047429615.1:c.972G>C, XM_047429576.1:c.972G>C, XM_047429581.1:c.972G>C, XM_047429575.1:c.972G>C, XM_047429580.1:c.972G>C, XM_047429587.1:c.972G>C, XM_047429578.1:c.972G>C, XM_047429582.1:c.972G>C, XM_047429586.1:c.972G>C, XM_047429583.1:c.972G>C, XM_047429579.1:c.972G>C, XM_047429584.1:c.972G>C, XM_047429585.1:c.972G>C, NM_001278390.1:c.972G>C, NP_109599.3:p.Leu324Phe, XP_011537088.1:p.Leu324Phe, XP_011537089.1:p.Leu324Phe, XP_011537086.1:p.Leu324Phe, NP_001265316.1:p.Leu324Phe, NP_001265317.1:p.Leu324Phe, NP_001070952.1:p.Leu324Phe, NP_001265318.1:p.Leu324Phe, XP_016875479.1:p.Leu324Phe, XP_047285553.1:p.Leu324Phe, XP_047285548.1:p.Leu324Phe, XP_047285550.1:p.Leu324Phe, XP_047285547.1:p.Leu324Phe, XP_047285544.1:p.Leu324Phe, XP_047285552.1:p.Leu324Phe, XP_047285551.1:p.Leu324Phe, XP_047285554.1:p.Leu324Phe, XP_047285549.1:p.Leu324Phe, XP_047285546.1:p.Leu324Phe, XP_047285545.1:p.Leu324Phe, XP_047285557.1:p.Leu324Phe, XP_047285566.1:p.Leu324Phe, XP_047285556.1:p.Leu324Phe, XP_047285564.1:p.Leu324Phe, XP_047285568.1:p.Leu324Phe, XP_047285555.1:p.Leu324Phe, XP_047285559.1:p.Leu324Phe, XP_047285567.1:p.Leu324Phe, XP_047285558.1:p.Leu324Phe, XP_047285565.1:p.Leu324Phe, XP_047285561.1:p.Leu324Phe, XP_047285572.1:p.Leu324Phe, XP_047285560.1:p.Leu324Phe, XP_047285569.1:p.Leu324Phe, XP_047285562.1:p.Leu324Phe, XP_047285563.1:p.Leu324Phe, XP_047285533.1:p.Leu324Phe, XP_047285570.1:p.Leu324Phe, XP_047285571.1:p.Leu324Phe, XP_047285532.1:p.Leu324Phe, XP_047285537.1:p.Leu324Phe, XP_047285531.1:p.Leu324Phe, XP_047285536.1:p.Leu324Phe, XP_047285543.1:p.Leu324Phe, XP_047285534.1:p.Leu324Phe, XP_047285538.1:p.Leu324Phe, XP_047285542.1:p.Leu324Phe, XP_047285539.1:p.Leu324Phe, XP_047285535.1:p.Leu324Phe, XP_047285540.1:p.Leu324Phe, XP_047285541.1:p.Leu324Phe, NP_001265319.1:p.Leu324Phe

          5.

          rs1478588904 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            12:46239758 (GRCh38)
            12:46633541 (GRCh37)
            Canonical SPDI:
            NC_000012.12:46239757:T:G
            Gene:
            SLC38A1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.46239758T>G, NC_000012.11:g.46633541T>G, NM_030674.4:c.43A>C, NM_030674.3:c.43A>C, XM_011538786.3:c.43A>C, XM_011538786.2:c.43A>C, XM_011538786.1:c.43A>C, XM_011538787.3:c.43A>C, XM_011538787.2:c.43A>C, XM_011538787.1:c.43A>C, XM_011538784.3:c.43A>C, XM_011538784.2:c.43A>C, XM_011538784.1:c.43A>C, NM_001278387.2:c.43A>C, NM_001278387.1:c.43A>C, NM_001278388.2:c.43A>C, NM_001278388.1:c.43A>C, NM_001077484.2:c.43A>C, NM_001077484.1:c.43A>C, NM_001278389.2:c.43A>C, NM_001278389.1:c.43A>C, XM_017019990.2:c.43A>C, XM_017019990.1:c.43A>C, XM_047429597.1:c.43A>C, XM_047429592.1:c.43A>C, XM_047429594.1:c.43A>C, XM_047429591.1:c.43A>C, XM_047429588.1:c.43A>C, XM_047429596.1:c.43A>C, XM_047429595.1:c.43A>C, XM_047429598.1:c.43A>C, XM_047429593.1:c.43A>C, XM_047429590.1:c.43A>C, XM_047429589.1:c.43A>C, XM_047429601.1:c.43A>C, XM_047429610.1:c.43A>C, XM_047429600.1:c.43A>C, XM_047429608.1:c.43A>C, XM_047429612.1:c.43A>C, XM_047429599.1:c.43A>C, XM_047429603.1:c.43A>C, XM_047429611.1:c.43A>C, XM_047429602.1:c.43A>C, XM_047429609.1:c.43A>C, XM_047429605.1:c.43A>C, XM_047429616.1:c.43A>C, XM_047429604.1:c.43A>C, XM_047429613.1:c.43A>C, XM_047429606.1:c.43A>C, XM_047429607.1:c.43A>C, XM_047429577.1:c.43A>C, XM_047429614.1:c.43A>C, XM_047429615.1:c.43A>C, XM_047429576.1:c.43A>C, XM_047429581.1:c.43A>C, XM_047429575.1:c.43A>C, XM_047429580.1:c.43A>C, XM_047429587.1:c.43A>C, XM_047429578.1:c.43A>C, XM_047429582.1:c.43A>C, XM_047429586.1:c.43A>C, XM_047429583.1:c.43A>C, XM_047429579.1:c.43A>C, XM_047429584.1:c.43A>C, XM_047429585.1:c.43A>C, NM_001278390.1:c.43A>C, NP_109599.3:p.Asn15His, XP_011537088.1:p.Asn15His, XP_011537089.1:p.Asn15His, XP_011537086.1:p.Asn15His, NP_001265316.1:p.Asn15His, NP_001265317.1:p.Asn15His, NP_001070952.1:p.Asn15His, NP_001265318.1:p.Asn15His, XP_016875479.1:p.Asn15His, XP_047285553.1:p.Asn15His, XP_047285548.1:p.Asn15His, XP_047285550.1:p.Asn15His, XP_047285547.1:p.Asn15His, XP_047285544.1:p.Asn15His, XP_047285552.1:p.Asn15His, XP_047285551.1:p.Asn15His, XP_047285554.1:p.Asn15His, XP_047285549.1:p.Asn15His, XP_047285546.1:p.Asn15His, XP_047285545.1:p.Asn15His, XP_047285557.1:p.Asn15His, XP_047285566.1:p.Asn15His, XP_047285556.1:p.Asn15His, XP_047285564.1:p.Asn15His, XP_047285568.1:p.Asn15His, XP_047285555.1:p.Asn15His, XP_047285559.1:p.Asn15His, XP_047285567.1:p.Asn15His, XP_047285558.1:p.Asn15His, XP_047285565.1:p.Asn15His, XP_047285561.1:p.Asn15His, XP_047285572.1:p.Asn15His, XP_047285560.1:p.Asn15His, XP_047285569.1:p.Asn15His, XP_047285562.1:p.Asn15His, XP_047285563.1:p.Asn15His, XP_047285533.1:p.Asn15His, XP_047285570.1:p.Asn15His, XP_047285571.1:p.Asn15His, XP_047285532.1:p.Asn15His, XP_047285537.1:p.Asn15His, XP_047285531.1:p.Asn15His, XP_047285536.1:p.Asn15His, XP_047285543.1:p.Asn15His, XP_047285534.1:p.Asn15His, XP_047285538.1:p.Asn15His, XP_047285542.1:p.Asn15His, XP_047285539.1:p.Asn15His, XP_047285535.1:p.Asn15His, XP_047285540.1:p.Asn15His, XP_047285541.1:p.Asn15His, NP_001265319.1:p.Asn15His

            6.

            rs1478384944 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              12:46189054 (GRCh38)
              12:46582837 (GRCh37)
              Canonical SPDI:
              NC_000012.12:46189053:G:C
              Gene:
              SLC38A1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1476685725 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:46197817 (GRCh38)
                12:46591600 (GRCh37)
                Canonical SPDI:
                NC_000012.12:46197816:C:T
                Gene:
                SLC38A1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by cluster
                HGVS:
                NC_000012.12:g.46197817C>T, NC_000012.11:g.46591600C>T, NM_030674.4:c.1265G>A, NM_030674.3:c.1265G>A, XM_011538786.3:c.1265G>A, XM_011538786.2:c.1265G>A, XM_011538786.1:c.1265G>A, XM_011538787.3:c.1265G>A, XM_011538787.2:c.1265G>A, XM_011538787.1:c.1265G>A, XM_011538784.3:c.1265G>A, XM_011538784.2:c.1265G>A, XM_011538784.1:c.1265G>A, NM_001278387.2:c.1265G>A, NM_001278387.1:c.1265G>A, NM_001278388.2:c.1265G>A, NM_001278388.1:c.1265G>A, NM_001077484.2:c.1265G>A, NM_001077484.1:c.1265G>A, NM_001278389.2:c.1265G>A, NM_001278389.1:c.1265G>A, XM_017019990.2:c.1265G>A, XM_017019990.1:c.1265G>A, XM_047429597.1:c.1265G>A, XM_047429592.1:c.1265G>A, XM_047429594.1:c.1265G>A, XM_047429591.1:c.1265G>A, XM_047429588.1:c.1265G>A, XM_047429596.1:c.1265G>A, XM_047429595.1:c.1265G>A, XM_047429598.1:c.1265G>A, XM_047429593.1:c.1265G>A, XM_047429590.1:c.1265G>A, XM_047429589.1:c.1265G>A, XM_047429601.1:c.1265G>A, XM_047429610.1:c.1265G>A, XM_047429600.1:c.1265G>A, XM_047429608.1:c.1265G>A, XM_047429612.1:c.1265G>A, XM_047429599.1:c.1265G>A, XM_047429603.1:c.1265G>A, XM_047429611.1:c.1265G>A, XM_047429602.1:c.1265G>A, XM_047429609.1:c.1265G>A, XM_047429605.1:c.1265G>A, XM_047429616.1:c.1265G>A, XM_047429604.1:c.1265G>A, XM_047429613.1:c.1265G>A, XM_047429606.1:c.1265G>A, XM_047429607.1:c.1265G>A, XM_047429577.1:c.1265G>A, XM_047429614.1:c.1265G>A, XM_047429615.1:c.1265G>A, XM_047429576.1:c.1265G>A, XM_047429581.1:c.1265G>A, XM_047429575.1:c.1265G>A, XM_047429580.1:c.1265G>A, XM_047429587.1:c.1265G>A, XM_047429578.1:c.1265G>A, XM_047429582.1:c.1265G>A, XM_047429586.1:c.1265G>A, XM_047429583.1:c.1265G>A, XM_047429579.1:c.1265G>A, XM_047429584.1:c.1265G>A, XM_047429585.1:c.1265G>A, NM_001278390.1:c.1265G>A, NP_109599.3:p.Gly422Glu, XP_011537088.1:p.Gly422Glu, XP_011537089.1:p.Gly422Glu, XP_011537086.1:p.Gly422Glu, NP_001265316.1:p.Gly422Glu, NP_001265317.1:p.Gly422Glu, NP_001070952.1:p.Gly422Glu, NP_001265318.1:p.Gly422Glu, XP_016875479.1:p.Gly422Glu, XP_047285553.1:p.Gly422Glu, XP_047285548.1:p.Gly422Glu, XP_047285550.1:p.Gly422Glu, XP_047285547.1:p.Gly422Glu, XP_047285544.1:p.Gly422Glu, XP_047285552.1:p.Gly422Glu, XP_047285551.1:p.Gly422Glu, XP_047285554.1:p.Gly422Glu, XP_047285549.1:p.Gly422Glu, XP_047285546.1:p.Gly422Glu, XP_047285545.1:p.Gly422Glu, XP_047285557.1:p.Gly422Glu, XP_047285566.1:p.Gly422Glu, XP_047285556.1:p.Gly422Glu, XP_047285564.1:p.Gly422Glu, XP_047285568.1:p.Gly422Glu, XP_047285555.1:p.Gly422Glu, XP_047285559.1:p.Gly422Glu, XP_047285567.1:p.Gly422Glu, XP_047285558.1:p.Gly422Glu, XP_047285565.1:p.Gly422Glu, XP_047285561.1:p.Gly422Glu, XP_047285572.1:p.Gly422Glu, XP_047285560.1:p.Gly422Glu, XP_047285569.1:p.Gly422Glu, XP_047285562.1:p.Gly422Glu, XP_047285563.1:p.Gly422Glu, XP_047285533.1:p.Gly422Glu, XP_047285570.1:p.Gly422Glu, XP_047285571.1:p.Gly422Glu, XP_047285532.1:p.Gly422Glu, XP_047285537.1:p.Gly422Glu, XP_047285531.1:p.Gly422Glu, XP_047285536.1:p.Gly422Glu, XP_047285543.1:p.Gly422Glu, XP_047285534.1:p.Gly422Glu, XP_047285538.1:p.Gly422Glu, XP_047285542.1:p.Gly422Glu, XP_047285539.1:p.Gly422Glu, XP_047285535.1:p.Gly422Glu, XP_047285540.1:p.Gly422Glu, XP_047285541.1:p.Gly422Glu, NP_001265319.1:p.Gly422Glu

                8.

                rs1475749804 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  12:46239792 (GRCh38)
                  12:46633575 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:46239791:A:G,NC_000012.12:46239791:A:T
                  Gene:
                  SLC38A1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  G=0.000071/1 (TOMMO)
                  HGVS:
                  NC_000012.12:g.46239792A>G, NC_000012.12:g.46239792A>T, NC_000012.11:g.46633575A>G, NC_000012.11:g.46633575A>T, NM_030674.4:c.9T>C, NM_030674.4:c.9T>A, NM_030674.3:c.9T>C, NM_030674.3:c.9T>A, XM_011538786.3:c.9T>C, XM_011538786.3:c.9T>A, XM_011538786.2:c.9T>C, XM_011538786.2:c.9T>A, XM_011538786.1:c.9T>C, XM_011538786.1:c.9T>A, XM_011538787.3:c.9T>C, XM_011538787.3:c.9T>A, XM_011538787.2:c.9T>C, XM_011538787.2:c.9T>A, XM_011538787.1:c.9T>C, XM_011538787.1:c.9T>A, XM_011538784.3:c.9T>C, XM_011538784.3:c.9T>A, XM_011538784.2:c.9T>C, XM_011538784.2:c.9T>A, XM_011538784.1:c.9T>C, XM_011538784.1:c.9T>A, NM_001278387.2:c.9T>C, NM_001278387.2:c.9T>A, NM_001278387.1:c.9T>C, NM_001278387.1:c.9T>A, NM_001278388.2:c.9T>C, NM_001278388.2:c.9T>A, NM_001278388.1:c.9T>C, NM_001278388.1:c.9T>A, NM_001077484.2:c.9T>C, NM_001077484.2:c.9T>A, NM_001077484.1:c.9T>C, NM_001077484.1:c.9T>A, NM_001278389.2:c.9T>C, NM_001278389.2:c.9T>A, NM_001278389.1:c.9T>C, NM_001278389.1:c.9T>A, XM_017019990.2:c.9T>C, XM_017019990.2:c.9T>A, XM_017019990.1:c.9T>C, XM_017019990.1:c.9T>A, XM_047429597.1:c.9T>C, XM_047429597.1:c.9T>A, XM_047429592.1:c.9T>C, XM_047429592.1:c.9T>A, XM_047429594.1:c.9T>C, XM_047429594.1:c.9T>A, XM_047429591.1:c.9T>C, XM_047429591.1:c.9T>A, XM_047429588.1:c.9T>C, XM_047429588.1:c.9T>A, XM_047429596.1:c.9T>C, XM_047429596.1:c.9T>A, XM_047429595.1:c.9T>C, XM_047429595.1:c.9T>A, XM_047429598.1:c.9T>C, XM_047429598.1:c.9T>A, XM_047429593.1:c.9T>C, XM_047429593.1:c.9T>A, XM_047429590.1:c.9T>C, XM_047429590.1:c.9T>A, XM_047429589.1:c.9T>C, XM_047429589.1:c.9T>A, XM_047429601.1:c.9T>C, XM_047429601.1:c.9T>A, XM_047429610.1:c.9T>C, XM_047429610.1:c.9T>A, XM_047429600.1:c.9T>C, XM_047429600.1:c.9T>A, XM_047429608.1:c.9T>C, XM_047429608.1:c.9T>A, XM_047429612.1:c.9T>C, XM_047429612.1:c.9T>A, XM_047429599.1:c.9T>C, XM_047429599.1:c.9T>A, XM_047429603.1:c.9T>C, XM_047429603.1:c.9T>A, XM_047429611.1:c.9T>C, XM_047429611.1:c.9T>A, XM_047429602.1:c.9T>C, XM_047429602.1:c.9T>A, XM_047429609.1:c.9T>C, XM_047429609.1:c.9T>A, XM_047429605.1:c.9T>C, XM_047429605.1:c.9T>A, XM_047429616.1:c.9T>C, XM_047429616.1:c.9T>A, XM_047429604.1:c.9T>C, XM_047429604.1:c.9T>A, XM_047429613.1:c.9T>C, XM_047429613.1:c.9T>A, XM_047429606.1:c.9T>C, XM_047429606.1:c.9T>A, XM_047429607.1:c.9T>C, XM_047429607.1:c.9T>A, XM_047429577.1:c.9T>C, XM_047429577.1:c.9T>A, XM_047429614.1:c.9T>C, XM_047429614.1:c.9T>A, XM_047429615.1:c.9T>C, XM_047429615.1:c.9T>A, XM_047429576.1:c.9T>C, XM_047429576.1:c.9T>A, XM_047429581.1:c.9T>C, XM_047429581.1:c.9T>A, XM_047429575.1:c.9T>C, XM_047429575.1:c.9T>A, XM_047429580.1:c.9T>C, XM_047429580.1:c.9T>A, XM_047429587.1:c.9T>C, XM_047429587.1:c.9T>A, XM_047429578.1:c.9T>C, XM_047429578.1:c.9T>A, XM_047429582.1:c.9T>C, XM_047429582.1:c.9T>A, XM_047429586.1:c.9T>C, XM_047429586.1:c.9T>A, XM_047429583.1:c.9T>C, XM_047429583.1:c.9T>A, XM_047429579.1:c.9T>C, XM_047429579.1:c.9T>A, XM_047429584.1:c.9T>C, XM_047429584.1:c.9T>A, XM_047429585.1:c.9T>C, XM_047429585.1:c.9T>A, NM_001278390.1:c.9T>C, NM_001278390.1:c.9T>A, NP_109599.3:p.His3Gln, XP_011537088.1:p.His3Gln, XP_011537089.1:p.His3Gln, XP_011537086.1:p.His3Gln, NP_001265316.1:p.His3Gln, NP_001265317.1:p.His3Gln, NP_001070952.1:p.His3Gln, NP_001265318.1:p.His3Gln, XP_016875479.1:p.His3Gln, XP_047285553.1:p.His3Gln, XP_047285548.1:p.His3Gln, XP_047285550.1:p.His3Gln, XP_047285547.1:p.His3Gln, XP_047285544.1:p.His3Gln, XP_047285552.1:p.His3Gln, XP_047285551.1:p.His3Gln, XP_047285554.1:p.His3Gln, XP_047285549.1:p.His3Gln, XP_047285546.1:p.His3Gln, XP_047285545.1:p.His3Gln, XP_047285557.1:p.His3Gln, XP_047285566.1:p.His3Gln, XP_047285556.1:p.His3Gln, XP_047285564.1:p.His3Gln, XP_047285568.1:p.His3Gln, XP_047285555.1:p.His3Gln, XP_047285559.1:p.His3Gln, XP_047285567.1:p.His3Gln, XP_047285558.1:p.His3Gln, XP_047285565.1:p.His3Gln, XP_047285561.1:p.His3Gln, XP_047285572.1:p.His3Gln, XP_047285560.1:p.His3Gln, XP_047285569.1:p.His3Gln, XP_047285562.1:p.His3Gln, XP_047285563.1:p.His3Gln, XP_047285533.1:p.His3Gln, XP_047285570.1:p.His3Gln, XP_047285571.1:p.His3Gln, XP_047285532.1:p.His3Gln, XP_047285537.1:p.His3Gln, XP_047285531.1:p.His3Gln, XP_047285536.1:p.His3Gln, XP_047285543.1:p.His3Gln, XP_047285534.1:p.His3Gln, XP_047285538.1:p.His3Gln, XP_047285542.1:p.His3Gln, XP_047285539.1:p.His3Gln, XP_047285535.1:p.His3Gln, XP_047285540.1:p.His3Gln, XP_047285541.1:p.His3Gln, NP_001265319.1:p.His3Gln

                  9.

                  rs1475406990 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:46207167 (GRCh38)
                    12:46600950 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:46207166:T:C
                    Gene:
                    SLC38A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.46207167T>C, NC_000012.11:g.46600950T>C, NM_030674.4:c.551A>G, NM_030674.3:c.551A>G, XM_011538786.3:c.551A>G, XM_011538786.2:c.551A>G, XM_011538786.1:c.551A>G, XM_011538787.3:c.551A>G, XM_011538787.2:c.551A>G, XM_011538787.1:c.551A>G, XM_011538784.3:c.551A>G, XM_011538784.2:c.551A>G, XM_011538784.1:c.551A>G, NM_001278387.2:c.551A>G, NM_001278387.1:c.551A>G, NM_001278388.2:c.551A>G, NM_001278388.1:c.551A>G, NM_001077484.2:c.551A>G, NM_001077484.1:c.551A>G, NM_001278389.2:c.551A>G, NM_001278389.1:c.551A>G, XM_017019990.2:c.551A>G, XM_017019990.1:c.551A>G, XM_047429597.1:c.551A>G, XM_047429592.1:c.551A>G, XM_047429594.1:c.551A>G, XM_047429591.1:c.551A>G, XM_047429588.1:c.551A>G, XM_047429596.1:c.551A>G, XM_047429595.1:c.551A>G, XM_047429598.1:c.551A>G, XM_047429593.1:c.551A>G, XM_047429590.1:c.551A>G, XM_047429589.1:c.551A>G, XM_047429601.1:c.551A>G, XM_047429610.1:c.551A>G, XM_047429600.1:c.551A>G, XM_047429608.1:c.551A>G, XM_047429612.1:c.551A>G, XM_047429599.1:c.551A>G, XM_047429603.1:c.551A>G, XM_047429611.1:c.551A>G, XM_047429602.1:c.551A>G, XM_047429609.1:c.551A>G, XM_047429605.1:c.551A>G, XM_047429616.1:c.551A>G, XM_047429604.1:c.551A>G, XM_047429613.1:c.551A>G, XM_047429606.1:c.551A>G, XM_047429607.1:c.551A>G, XM_047429577.1:c.551A>G, XM_047429614.1:c.551A>G, XM_047429615.1:c.551A>G, XM_047429576.1:c.551A>G, XM_047429581.1:c.551A>G, XM_047429575.1:c.551A>G, XM_047429580.1:c.551A>G, XM_047429587.1:c.551A>G, XM_047429578.1:c.551A>G, XM_047429582.1:c.551A>G, XM_047429586.1:c.551A>G, XM_047429583.1:c.551A>G, XM_047429579.1:c.551A>G, XM_047429584.1:c.551A>G, XM_047429585.1:c.551A>G, NM_001278390.1:c.551A>G, NP_109599.3:p.Glu184Gly, XP_011537088.1:p.Glu184Gly, XP_011537089.1:p.Glu184Gly, XP_011537086.1:p.Glu184Gly, NP_001265316.1:p.Glu184Gly, NP_001265317.1:p.Glu184Gly, NP_001070952.1:p.Glu184Gly, NP_001265318.1:p.Glu184Gly, XP_016875479.1:p.Glu184Gly, XP_047285553.1:p.Glu184Gly, XP_047285548.1:p.Glu184Gly, XP_047285550.1:p.Glu184Gly, XP_047285547.1:p.Glu184Gly, XP_047285544.1:p.Glu184Gly, XP_047285552.1:p.Glu184Gly, XP_047285551.1:p.Glu184Gly, XP_047285554.1:p.Glu184Gly, XP_047285549.1:p.Glu184Gly, XP_047285546.1:p.Glu184Gly, XP_047285545.1:p.Glu184Gly, XP_047285557.1:p.Glu184Gly, XP_047285566.1:p.Glu184Gly, XP_047285556.1:p.Glu184Gly, XP_047285564.1:p.Glu184Gly, XP_047285568.1:p.Glu184Gly, XP_047285555.1:p.Glu184Gly, XP_047285559.1:p.Glu184Gly, XP_047285567.1:p.Glu184Gly, XP_047285558.1:p.Glu184Gly, XP_047285565.1:p.Glu184Gly, XP_047285561.1:p.Glu184Gly, XP_047285572.1:p.Glu184Gly, XP_047285560.1:p.Glu184Gly, XP_047285569.1:p.Glu184Gly, XP_047285562.1:p.Glu184Gly, XP_047285563.1:p.Glu184Gly, XP_047285533.1:p.Glu184Gly, XP_047285570.1:p.Glu184Gly, XP_047285571.1:p.Glu184Gly, XP_047285532.1:p.Glu184Gly, XP_047285537.1:p.Glu184Gly, XP_047285531.1:p.Glu184Gly, XP_047285536.1:p.Glu184Gly, XP_047285543.1:p.Glu184Gly, XP_047285534.1:p.Glu184Gly, XP_047285538.1:p.Glu184Gly, XP_047285542.1:p.Glu184Gly, XP_047285539.1:p.Glu184Gly, XP_047285535.1:p.Glu184Gly, XP_047285540.1:p.Glu184Gly, XP_047285541.1:p.Glu184Gly, NP_001265319.1:p.Glu184Gly

                    10.

                    rs1473090106 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:46229193 (GRCh38)
                      12:46622976 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:46229192:G:A
                      Gene:
                      SLC38A1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000012.12:g.46229193G>A, NC_000012.11:g.46622976G>A, NM_030674.4:c.274C>T, NM_030674.3:c.274C>T, XM_011538786.3:c.274C>T, XM_011538786.2:c.274C>T, XM_011538786.1:c.274C>T, XM_011538787.3:c.274C>T, XM_011538787.2:c.274C>T, XM_011538787.1:c.274C>T, XM_011538784.3:c.274C>T, XM_011538784.2:c.274C>T, XM_011538784.1:c.274C>T, NM_001278387.2:c.274C>T, NM_001278387.1:c.274C>T, NM_001278388.2:c.274C>T, NM_001278388.1:c.274C>T, NM_001077484.2:c.274C>T, NM_001077484.1:c.274C>T, NM_001278389.2:c.274C>T, NM_001278389.1:c.274C>T, XM_017019990.2:c.274C>T, XM_017019990.1:c.274C>T, XM_047429597.1:c.274C>T, XM_047429592.1:c.274C>T, XM_047429594.1:c.274C>T, XM_047429591.1:c.274C>T, XM_047429588.1:c.274C>T, XM_047429596.1:c.274C>T, XM_047429595.1:c.274C>T, XM_047429598.1:c.274C>T, XM_047429593.1:c.274C>T, XM_047429590.1:c.274C>T, XM_047429589.1:c.274C>T, XM_047429601.1:c.274C>T, XM_047429610.1:c.274C>T, XM_047429600.1:c.274C>T, XM_047429608.1:c.274C>T, XM_047429612.1:c.274C>T, XM_047429599.1:c.274C>T, XM_047429603.1:c.274C>T, XM_047429611.1:c.274C>T, XM_047429602.1:c.274C>T, XM_047429609.1:c.274C>T, XM_047429605.1:c.274C>T, XM_047429616.1:c.274C>T, XM_047429604.1:c.274C>T, XM_047429613.1:c.274C>T, XM_047429606.1:c.274C>T, XM_047429607.1:c.274C>T, XM_047429577.1:c.274C>T, XM_047429614.1:c.274C>T, XM_047429615.1:c.274C>T, XM_047429576.1:c.274C>T, XM_047429581.1:c.274C>T, XM_047429575.1:c.274C>T, XM_047429580.1:c.274C>T, XM_047429587.1:c.274C>T, XM_047429578.1:c.274C>T, XM_047429582.1:c.274C>T, XM_047429586.1:c.274C>T, XM_047429583.1:c.274C>T, XM_047429579.1:c.274C>T, XM_047429584.1:c.274C>T, XM_047429585.1:c.274C>T, NM_001278390.1:c.274C>T, NP_109599.3:p.Leu92Phe, XP_011537088.1:p.Leu92Phe, XP_011537089.1:p.Leu92Phe, XP_011537086.1:p.Leu92Phe, NP_001265316.1:p.Leu92Phe, NP_001265317.1:p.Leu92Phe, NP_001070952.1:p.Leu92Phe, NP_001265318.1:p.Leu92Phe, XP_016875479.1:p.Leu92Phe, XP_047285553.1:p.Leu92Phe, XP_047285548.1:p.Leu92Phe, XP_047285550.1:p.Leu92Phe, XP_047285547.1:p.Leu92Phe, XP_047285544.1:p.Leu92Phe, XP_047285552.1:p.Leu92Phe, XP_047285551.1:p.Leu92Phe, XP_047285554.1:p.Leu92Phe, XP_047285549.1:p.Leu92Phe, XP_047285546.1:p.Leu92Phe, XP_047285545.1:p.Leu92Phe, XP_047285557.1:p.Leu92Phe, XP_047285566.1:p.Leu92Phe, XP_047285556.1:p.Leu92Phe, XP_047285564.1:p.Leu92Phe, XP_047285568.1:p.Leu92Phe, XP_047285555.1:p.Leu92Phe, XP_047285559.1:p.Leu92Phe, XP_047285567.1:p.Leu92Phe, XP_047285558.1:p.Leu92Phe, XP_047285565.1:p.Leu92Phe, XP_047285561.1:p.Leu92Phe, XP_047285572.1:p.Leu92Phe, XP_047285560.1:p.Leu92Phe, XP_047285569.1:p.Leu92Phe, XP_047285562.1:p.Leu92Phe, XP_047285563.1:p.Leu92Phe, XP_047285533.1:p.Leu92Phe, XP_047285570.1:p.Leu92Phe, XP_047285571.1:p.Leu92Phe, XP_047285532.1:p.Leu92Phe, XP_047285537.1:p.Leu92Phe, XP_047285531.1:p.Leu92Phe, XP_047285536.1:p.Leu92Phe, XP_047285543.1:p.Leu92Phe, XP_047285534.1:p.Leu92Phe, XP_047285538.1:p.Leu92Phe, XP_047285542.1:p.Leu92Phe, XP_047285539.1:p.Leu92Phe, XP_047285535.1:p.Leu92Phe, XP_047285540.1:p.Leu92Phe, XP_047285541.1:p.Leu92Phe, NP_001265319.1:p.Leu92Phe

                      11.

                      rs1469080344 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        12:46197969 (GRCh38)
                        12:46591752 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:46197968:T:A,NC_000012.12:46197968:T:C
                        Gene:
                        SLC38A1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        C=0.000012/3 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.46197969T>A, NC_000012.12:g.46197969T>C, NC_000012.11:g.46591752T>A, NC_000012.11:g.46591752T>C, NM_030674.4:c.1214A>T, NM_030674.4:c.1214A>G, NM_030674.3:c.1214A>T, NM_030674.3:c.1214A>G, XM_011538786.3:c.1214A>T, XM_011538786.3:c.1214A>G, XM_011538786.2:c.1214A>T, XM_011538786.2:c.1214A>G, XM_011538786.1:c.1214A>T, XM_011538786.1:c.1214A>G, XM_011538787.3:c.1214A>T, XM_011538787.3:c.1214A>G, XM_011538787.2:c.1214A>T, XM_011538787.2:c.1214A>G, XM_011538787.1:c.1214A>T, XM_011538787.1:c.1214A>G, XM_011538784.3:c.1214A>T, XM_011538784.3:c.1214A>G, XM_011538784.2:c.1214A>T, XM_011538784.2:c.1214A>G, XM_011538784.1:c.1214A>T, XM_011538784.1:c.1214A>G, NM_001278387.2:c.1214A>T, NM_001278387.2:c.1214A>G, NM_001278387.1:c.1214A>T, NM_001278387.1:c.1214A>G, NM_001278388.2:c.1214A>T, NM_001278388.2:c.1214A>G, NM_001278388.1:c.1214A>T, NM_001278388.1:c.1214A>G, NM_001077484.2:c.1214A>T, NM_001077484.2:c.1214A>G, NM_001077484.1:c.1214A>T, NM_001077484.1:c.1214A>G, NM_001278389.2:c.1214A>T, NM_001278389.2:c.1214A>G, NM_001278389.1:c.1214A>T, NM_001278389.1:c.1214A>G, XM_017019990.2:c.1214A>T, XM_017019990.2:c.1214A>G, XM_017019990.1:c.1214A>T, XM_017019990.1:c.1214A>G, XM_047429597.1:c.1214A>T, XM_047429597.1:c.1214A>G, XM_047429592.1:c.1214A>T, XM_047429592.1:c.1214A>G, XM_047429594.1:c.1214A>T, XM_047429594.1:c.1214A>G, XM_047429591.1:c.1214A>T, XM_047429591.1:c.1214A>G, XM_047429588.1:c.1214A>T, XM_047429588.1:c.1214A>G, XM_047429596.1:c.1214A>T, XM_047429596.1:c.1214A>G, XM_047429595.1:c.1214A>T, XM_047429595.1:c.1214A>G, XM_047429598.1:c.1214A>T, XM_047429598.1:c.1214A>G, XM_047429593.1:c.1214A>T, XM_047429593.1:c.1214A>G, XM_047429590.1:c.1214A>T, XM_047429590.1:c.1214A>G, XM_047429589.1:c.1214A>T, XM_047429589.1:c.1214A>G, XM_047429601.1:c.1214A>T, XM_047429601.1:c.1214A>G, XM_047429610.1:c.1214A>T, XM_047429610.1:c.1214A>G, XM_047429600.1:c.1214A>T, XM_047429600.1:c.1214A>G, XM_047429608.1:c.1214A>T, XM_047429608.1:c.1214A>G, XM_047429612.1:c.1214A>T, XM_047429612.1:c.1214A>G, XM_047429599.1:c.1214A>T, XM_047429599.1:c.1214A>G, XM_047429603.1:c.1214A>T, XM_047429603.1:c.1214A>G, XM_047429611.1:c.1214A>T, XM_047429611.1:c.1214A>G, XM_047429602.1:c.1214A>T, XM_047429602.1:c.1214A>G, XM_047429609.1:c.1214A>T, XM_047429609.1:c.1214A>G, XM_047429605.1:c.1214A>T, XM_047429605.1:c.1214A>G, XM_047429616.1:c.1214A>T, XM_047429616.1:c.1214A>G, XM_047429604.1:c.1214A>T, XM_047429604.1:c.1214A>G, XM_047429613.1:c.1214A>T, XM_047429613.1:c.1214A>G, XM_047429606.1:c.1214A>T, XM_047429606.1:c.1214A>G, XM_047429607.1:c.1214A>T, XM_047429607.1:c.1214A>G, XM_047429577.1:c.1214A>T, XM_047429577.1:c.1214A>G, XM_047429614.1:c.1214A>T, XM_047429614.1:c.1214A>G, XM_047429615.1:c.1214A>T, XM_047429615.1:c.1214A>G, XM_047429576.1:c.1214A>T, XM_047429576.1:c.1214A>G, XM_047429581.1:c.1214A>T, XM_047429581.1:c.1214A>G, XM_047429575.1:c.1214A>T, XM_047429575.1:c.1214A>G, XM_047429580.1:c.1214A>T, XM_047429580.1:c.1214A>G, XM_047429587.1:c.1214A>T, XM_047429587.1:c.1214A>G, XM_047429578.1:c.1214A>T, XM_047429578.1:c.1214A>G, XM_047429582.1:c.1214A>T, XM_047429582.1:c.1214A>G, XM_047429586.1:c.1214A>T, XM_047429586.1:c.1214A>G, XM_047429583.1:c.1214A>T, XM_047429583.1:c.1214A>G, XM_047429579.1:c.1214A>T, XM_047429579.1:c.1214A>G, XM_047429584.1:c.1214A>T, XM_047429584.1:c.1214A>G, XM_047429585.1:c.1214A>T, XM_047429585.1:c.1214A>G, NM_001278390.1:c.1214A>T, NM_001278390.1:c.1214A>G, NP_109599.3:p.Asn405Ile, NP_109599.3:p.Asn405Ser, XP_011537088.1:p.Asn405Ile, XP_011537088.1:p.Asn405Ser, XP_011537089.1:p.Asn405Ile, XP_011537089.1:p.Asn405Ser, XP_011537086.1:p.Asn405Ile, XP_011537086.1:p.Asn405Ser, NP_001265316.1:p.Asn405Ile, NP_001265316.1:p.Asn405Ser, NP_001265317.1:p.Asn405Ile, NP_001265317.1:p.Asn405Ser, NP_001070952.1:p.Asn405Ile, NP_001070952.1:p.Asn405Ser, NP_001265318.1:p.Asn405Ile, NP_001265318.1:p.Asn405Ser, XP_016875479.1:p.Asn405Ile, XP_016875479.1:p.Asn405Ser, XP_047285553.1:p.Asn405Ile, XP_047285553.1:p.Asn405Ser, XP_047285548.1:p.Asn405Ile, XP_047285548.1:p.Asn405Ser, XP_047285550.1:p.Asn405Ile, XP_047285550.1:p.Asn405Ser, XP_047285547.1:p.Asn405Ile, XP_047285547.1:p.Asn405Ser, XP_047285544.1:p.Asn405Ile, XP_047285544.1:p.Asn405Ser, XP_047285552.1:p.Asn405Ile, XP_047285552.1:p.Asn405Ser, XP_047285551.1:p.Asn405Ile, XP_047285551.1:p.Asn405Ser, XP_047285554.1:p.Asn405Ile, XP_047285554.1:p.Asn405Ser, XP_047285549.1:p.Asn405Ile, XP_047285549.1:p.Asn405Ser, XP_047285546.1:p.Asn405Ile, XP_047285546.1:p.Asn405Ser, XP_047285545.1:p.Asn405Ile, XP_047285545.1:p.Asn405Ser, XP_047285557.1:p.Asn405Ile, XP_047285557.1:p.Asn405Ser, XP_047285566.1:p.Asn405Ile, XP_047285566.1:p.Asn405Ser, XP_047285556.1:p.Asn405Ile, XP_047285556.1:p.Asn405Ser, XP_047285564.1:p.Asn405Ile, XP_047285564.1:p.Asn405Ser, XP_047285568.1:p.Asn405Ile, XP_047285568.1:p.Asn405Ser, XP_047285555.1:p.Asn405Ile, XP_047285555.1:p.Asn405Ser, XP_047285559.1:p.Asn405Ile, XP_047285559.1:p.Asn405Ser, XP_047285567.1:p.Asn405Ile, XP_047285567.1:p.Asn405Ser, XP_047285558.1:p.Asn405Ile, XP_047285558.1:p.Asn405Ser, XP_047285565.1:p.Asn405Ile, XP_047285565.1:p.Asn405Ser, XP_047285561.1:p.Asn405Ile, XP_047285561.1:p.Asn405Ser, XP_047285572.1:p.Asn405Ile, XP_047285572.1:p.Asn405Ser, XP_047285560.1:p.Asn405Ile, XP_047285560.1:p.Asn405Ser, XP_047285569.1:p.Asn405Ile, XP_047285569.1:p.Asn405Ser, XP_047285562.1:p.Asn405Ile, XP_047285562.1:p.Asn405Ser, XP_047285563.1:p.Asn405Ile, XP_047285563.1:p.Asn405Ser, XP_047285533.1:p.Asn405Ile, XP_047285533.1:p.Asn405Ser, XP_047285570.1:p.Asn405Ile, XP_047285570.1:p.Asn405Ser, XP_047285571.1:p.Asn405Ile, XP_047285571.1:p.Asn405Ser, XP_047285532.1:p.Asn405Ile, XP_047285532.1:p.Asn405Ser, XP_047285537.1:p.Asn405Ile, XP_047285537.1:p.Asn405Ser, XP_047285531.1:p.Asn405Ile, XP_047285531.1:p.Asn405Ser, XP_047285536.1:p.Asn405Ile, XP_047285536.1:p.Asn405Ser, XP_047285543.1:p.Asn405Ile, XP_047285543.1:p.Asn405Ser, XP_047285534.1:p.Asn405Ile, XP_047285534.1:p.Asn405Ser, XP_047285538.1:p.Asn405Ile, XP_047285538.1:p.Asn405Ser, XP_047285542.1:p.Asn405Ile, XP_047285542.1:p.Asn405Ser, XP_047285539.1:p.Asn405Ile, XP_047285539.1:p.Asn405Ser, XP_047285535.1:p.Asn405Ile, XP_047285535.1:p.Asn405Ser, XP_047285540.1:p.Asn405Ile, XP_047285540.1:p.Asn405Ser, XP_047285541.1:p.Asn405Ile, XP_047285541.1:p.Asn405Ser, NP_001265319.1:p.Asn405Ile, NP_001265319.1:p.Asn405Ser

                        12.

                        rs1469047235 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          12:46198696 (GRCh38)
                          12:46592479 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:46198695:T:A
                          Gene:
                          SLC38A1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000012.12:g.46198696T>A, NC_000012.11:g.46592479T>A, NM_030674.4:c.1051A>T, NM_030674.3:c.1051A>T, XM_011538786.3:c.1051A>T, XM_011538786.2:c.1051A>T, XM_011538786.1:c.1051A>T, XM_011538787.3:c.1051A>T, XM_011538787.2:c.1051A>T, XM_011538787.1:c.1051A>T, XM_011538784.3:c.1051A>T, XM_011538784.2:c.1051A>T, XM_011538784.1:c.1051A>T, NM_001278387.2:c.1051A>T, NM_001278387.1:c.1051A>T, NM_001278388.2:c.1051A>T, NM_001278388.1:c.1051A>T, NM_001077484.2:c.1051A>T, NM_001077484.1:c.1051A>T, NM_001278389.2:c.1051A>T, NM_001278389.1:c.1051A>T, XM_017019990.2:c.1051A>T, XM_017019990.1:c.1051A>T, XM_047429597.1:c.1051A>T, XM_047429592.1:c.1051A>T, XM_047429594.1:c.1051A>T, XM_047429591.1:c.1051A>T, XM_047429588.1:c.1051A>T, XM_047429596.1:c.1051A>T, XM_047429595.1:c.1051A>T, XM_047429598.1:c.1051A>T, XM_047429593.1:c.1051A>T, XM_047429590.1:c.1051A>T, XM_047429589.1:c.1051A>T, XM_047429601.1:c.1051A>T, XM_047429610.1:c.1051A>T, XM_047429600.1:c.1051A>T, XM_047429608.1:c.1051A>T, XM_047429612.1:c.1051A>T, XM_047429599.1:c.1051A>T, XM_047429603.1:c.1051A>T, XM_047429611.1:c.1051A>T, XM_047429602.1:c.1051A>T, XM_047429609.1:c.1051A>T, XM_047429605.1:c.1051A>T, XM_047429616.1:c.1051A>T, XM_047429604.1:c.1051A>T, XM_047429613.1:c.1051A>T, XM_047429606.1:c.1051A>T, XM_047429607.1:c.1051A>T, XM_047429577.1:c.1051A>T, XM_047429614.1:c.1051A>T, XM_047429615.1:c.1051A>T, XM_047429576.1:c.1051A>T, XM_047429581.1:c.1051A>T, XM_047429575.1:c.1051A>T, XM_047429580.1:c.1051A>T, XM_047429587.1:c.1051A>T, XM_047429578.1:c.1051A>T, XM_047429582.1:c.1051A>T, XM_047429586.1:c.1051A>T, XM_047429583.1:c.1051A>T, XM_047429579.1:c.1051A>T, XM_047429584.1:c.1051A>T, XM_047429585.1:c.1051A>T, NM_001278390.1:c.1051A>T, NP_109599.3:p.Ile351Phe, XP_011537088.1:p.Ile351Phe, XP_011537089.1:p.Ile351Phe, XP_011537086.1:p.Ile351Phe, NP_001265316.1:p.Ile351Phe, NP_001265317.1:p.Ile351Phe, NP_001070952.1:p.Ile351Phe, NP_001265318.1:p.Ile351Phe, XP_016875479.1:p.Ile351Phe, XP_047285553.1:p.Ile351Phe, XP_047285548.1:p.Ile351Phe, XP_047285550.1:p.Ile351Phe, XP_047285547.1:p.Ile351Phe, XP_047285544.1:p.Ile351Phe, XP_047285552.1:p.Ile351Phe, XP_047285551.1:p.Ile351Phe, XP_047285554.1:p.Ile351Phe, XP_047285549.1:p.Ile351Phe, XP_047285546.1:p.Ile351Phe, XP_047285545.1:p.Ile351Phe, XP_047285557.1:p.Ile351Phe, XP_047285566.1:p.Ile351Phe, XP_047285556.1:p.Ile351Phe, XP_047285564.1:p.Ile351Phe, XP_047285568.1:p.Ile351Phe, XP_047285555.1:p.Ile351Phe, XP_047285559.1:p.Ile351Phe, XP_047285567.1:p.Ile351Phe, XP_047285558.1:p.Ile351Phe, XP_047285565.1:p.Ile351Phe, XP_047285561.1:p.Ile351Phe, XP_047285572.1:p.Ile351Phe, XP_047285560.1:p.Ile351Phe, XP_047285569.1:p.Ile351Phe, XP_047285562.1:p.Ile351Phe, XP_047285563.1:p.Ile351Phe, XP_047285533.1:p.Ile351Phe, XP_047285570.1:p.Ile351Phe, XP_047285571.1:p.Ile351Phe, XP_047285532.1:p.Ile351Phe, XP_047285537.1:p.Ile351Phe, XP_047285531.1:p.Ile351Phe, XP_047285536.1:p.Ile351Phe, XP_047285543.1:p.Ile351Phe, XP_047285534.1:p.Ile351Phe, XP_047285538.1:p.Ile351Phe, XP_047285542.1:p.Ile351Phe, XP_047285539.1:p.Ile351Phe, XP_047285535.1:p.Ile351Phe, XP_047285540.1:p.Ile351Phe, XP_047285541.1:p.Ile351Phe, NP_001265319.1:p.Ile351Phe

                          13.

                          rs1466417043 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:46188972 (GRCh38)
                            12:46582755 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:46188971:A:G
                            Gene:
                            SLC38A1 (Varview)
                            Functional Consequence:
                            stop_lost,terminator_codon_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.46188972A>G, NC_000012.11:g.46582755A>G, NM_030674.4:c.1462T>C, NM_030674.3:c.1462T>C, NM_001278387.2:c.1462T>C, NM_001278387.1:c.1462T>C, NM_001278388.2:c.1462T>C, NM_001278388.1:c.1462T>C, NM_001077484.2:c.1462T>C, NM_001077484.1:c.1462T>C, NM_001278389.2:c.1462T>C, NM_001278389.1:c.1462T>C, XM_047429597.1:c.1462T>C, XM_047429592.1:c.1462T>C, XM_047429594.1:c.1462T>C, XM_047429591.1:c.1462T>C, XM_047429588.1:c.1462T>C, XM_047429596.1:c.1462T>C, XM_047429595.1:c.1462T>C, XM_047429598.1:c.1462T>C, XM_047429593.1:c.1462T>C, XM_047429590.1:c.1462T>C, XM_047429589.1:c.1462T>C, NP_109599.3:p.Ter488Arg, NP_001265316.1:p.Ter488Arg, NP_001265317.1:p.Ter488Arg, NP_001070952.1:p.Ter488Arg, NP_001265318.1:p.Ter488Arg, XP_047285553.1:p.Ter488Arg, XP_047285548.1:p.Ter488Arg, XP_047285550.1:p.Ter488Arg, XP_047285547.1:p.Ter488Arg, XP_047285544.1:p.Ter488Arg, XP_047285552.1:p.Ter488Arg, XP_047285551.1:p.Ter488Arg, XP_047285554.1:p.Ter488Arg, XP_047285549.1:p.Ter488Arg, XP_047285546.1:p.Ter488Arg, XP_047285545.1:p.Ter488Arg

                            14.

                            rs1465329843 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              12:46197721 (GRCh38)
                              12:46591504 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:46197720:C:A
                              Gene:
                              SLC38A1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000019/5 (TOPMED)
                              A=0.000031/7 (GnomAD_exomes)
                              A=0.000043/6 (GnomAD)
                              HGVS:
                              NC_000012.12:g.46197721C>A, NC_000012.11:g.46591504C>A, NM_030674.4:c.1361G>T, NM_030674.3:c.1361G>T, XM_011538786.3:c.1361G>T, XM_011538786.2:c.1361G>T, XM_011538786.1:c.1361G>T, XM_011538787.3:c.1361G>T, XM_011538787.2:c.1361G>T, XM_011538787.1:c.1361G>T, XM_011538784.3:c.1361G>T, XM_011538784.2:c.1361G>T, XM_011538784.1:c.1361G>T, NM_001278387.2:c.1361G>T, NM_001278387.1:c.1361G>T, NM_001278388.2:c.1361G>T, NM_001278388.1:c.1361G>T, NM_001077484.2:c.1361G>T, NM_001077484.1:c.1361G>T, NM_001278389.2:c.1361G>T, NM_001278389.1:c.1361G>T, XM_017019990.2:c.1361G>T, XM_017019990.1:c.1361G>T, XM_047429597.1:c.1361G>T, XM_047429592.1:c.1361G>T, XM_047429594.1:c.1361G>T, XM_047429591.1:c.1361G>T, XM_047429588.1:c.1361G>T, XM_047429596.1:c.1361G>T, XM_047429595.1:c.1361G>T, XM_047429598.1:c.1361G>T, XM_047429593.1:c.1361G>T, XM_047429590.1:c.1361G>T, XM_047429589.1:c.1361G>T, XM_047429601.1:c.1361G>T, XM_047429610.1:c.1361G>T, XM_047429600.1:c.1361G>T, XM_047429608.1:c.1361G>T, XM_047429612.1:c.1361G>T, XM_047429599.1:c.1361G>T, XM_047429603.1:c.1361G>T, XM_047429611.1:c.1361G>T, XM_047429602.1:c.1361G>T, XM_047429609.1:c.1361G>T, XM_047429605.1:c.1361G>T, XM_047429616.1:c.1361G>T, XM_047429604.1:c.1361G>T, XM_047429613.1:c.1361G>T, XM_047429606.1:c.1361G>T, XM_047429607.1:c.1361G>T, XM_047429577.1:c.1361G>T, XM_047429614.1:c.1361G>T, XM_047429615.1:c.1361G>T, XM_047429576.1:c.1361G>T, XM_047429581.1:c.1361G>T, XM_047429575.1:c.1361G>T, XM_047429580.1:c.1361G>T, XM_047429587.1:c.1361G>T, XM_047429578.1:c.1361G>T, XM_047429582.1:c.1361G>T, XM_047429586.1:c.1361G>T, XM_047429583.1:c.1361G>T, XM_047429579.1:c.1361G>T, XM_047429584.1:c.1361G>T, XM_047429585.1:c.1361G>T, NM_001278390.1:c.1361G>T, NP_109599.3:p.Trp454Leu, XP_011537088.1:p.Trp454Leu, XP_011537089.1:p.Trp454Leu, XP_011537086.1:p.Trp454Leu, NP_001265316.1:p.Trp454Leu, NP_001265317.1:p.Trp454Leu, NP_001070952.1:p.Trp454Leu, NP_001265318.1:p.Trp454Leu, XP_016875479.1:p.Trp454Leu, XP_047285553.1:p.Trp454Leu, XP_047285548.1:p.Trp454Leu, XP_047285550.1:p.Trp454Leu, XP_047285547.1:p.Trp454Leu, XP_047285544.1:p.Trp454Leu, XP_047285552.1:p.Trp454Leu, XP_047285551.1:p.Trp454Leu, XP_047285554.1:p.Trp454Leu, XP_047285549.1:p.Trp454Leu, XP_047285546.1:p.Trp454Leu, XP_047285545.1:p.Trp454Leu, XP_047285557.1:p.Trp454Leu, XP_047285566.1:p.Trp454Leu, XP_047285556.1:p.Trp454Leu, XP_047285564.1:p.Trp454Leu, XP_047285568.1:p.Trp454Leu, XP_047285555.1:p.Trp454Leu, XP_047285559.1:p.Trp454Leu, XP_047285567.1:p.Trp454Leu, XP_047285558.1:p.Trp454Leu, XP_047285565.1:p.Trp454Leu, XP_047285561.1:p.Trp454Leu, XP_047285572.1:p.Trp454Leu, XP_047285560.1:p.Trp454Leu, XP_047285569.1:p.Trp454Leu, XP_047285562.1:p.Trp454Leu, XP_047285563.1:p.Trp454Leu, XP_047285533.1:p.Trp454Leu, XP_047285570.1:p.Trp454Leu, XP_047285571.1:p.Trp454Leu, XP_047285532.1:p.Trp454Leu, XP_047285537.1:p.Trp454Leu, XP_047285531.1:p.Trp454Leu, XP_047285536.1:p.Trp454Leu, XP_047285543.1:p.Trp454Leu, XP_047285534.1:p.Trp454Leu, XP_047285538.1:p.Trp454Leu, XP_047285542.1:p.Trp454Leu, XP_047285539.1:p.Trp454Leu, XP_047285535.1:p.Trp454Leu, XP_047285540.1:p.Trp454Leu, XP_047285541.1:p.Trp454Leu, NP_001265319.1:p.Trp454Leu

                              15.

                              rs1464486965 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:46239749 (GRCh38)
                                12:46633532 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:46239748:C:T
                                Gene:
                                SLC38A1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.46239749C>T, NC_000012.11:g.46633532C>T, NM_030674.4:c.52G>A, NM_030674.3:c.52G>A, XM_011538786.3:c.52G>A, XM_011538786.2:c.52G>A, XM_011538786.1:c.52G>A, XM_011538787.3:c.52G>A, XM_011538787.2:c.52G>A, XM_011538787.1:c.52G>A, XM_011538784.3:c.52G>A, XM_011538784.2:c.52G>A, XM_011538784.1:c.52G>A, NM_001278387.2:c.52G>A, NM_001278387.1:c.52G>A, NM_001278388.2:c.52G>A, NM_001278388.1:c.52G>A, NM_001077484.2:c.52G>A, NM_001077484.1:c.52G>A, NM_001278389.2:c.52G>A, NM_001278389.1:c.52G>A, XM_017019990.2:c.52G>A, XM_017019990.1:c.52G>A, XM_047429597.1:c.52G>A, XM_047429592.1:c.52G>A, XM_047429594.1:c.52G>A, XM_047429591.1:c.52G>A, XM_047429588.1:c.52G>A, XM_047429596.1:c.52G>A, XM_047429595.1:c.52G>A, XM_047429598.1:c.52G>A, XM_047429593.1:c.52G>A, XM_047429590.1:c.52G>A, XM_047429589.1:c.52G>A, XM_047429601.1:c.52G>A, XM_047429610.1:c.52G>A, XM_047429600.1:c.52G>A, XM_047429608.1:c.52G>A, XM_047429612.1:c.52G>A, XM_047429599.1:c.52G>A, XM_047429603.1:c.52G>A, XM_047429611.1:c.52G>A, XM_047429602.1:c.52G>A, XM_047429609.1:c.52G>A, XM_047429605.1:c.52G>A, XM_047429616.1:c.52G>A, XM_047429604.1:c.52G>A, XM_047429613.1:c.52G>A, XM_047429606.1:c.52G>A, XM_047429607.1:c.52G>A, XM_047429577.1:c.52G>A, XM_047429614.1:c.52G>A, XM_047429615.1:c.52G>A, XM_047429576.1:c.52G>A, XM_047429581.1:c.52G>A, XM_047429575.1:c.52G>A, XM_047429580.1:c.52G>A, XM_047429587.1:c.52G>A, XM_047429578.1:c.52G>A, XM_047429582.1:c.52G>A, XM_047429586.1:c.52G>A, XM_047429583.1:c.52G>A, XM_047429579.1:c.52G>A, XM_047429584.1:c.52G>A, XM_047429585.1:c.52G>A, NM_001278390.1:c.52G>A, NP_109599.3:p.Val18Met, XP_011537088.1:p.Val18Met, XP_011537089.1:p.Val18Met, XP_011537086.1:p.Val18Met, NP_001265316.1:p.Val18Met, NP_001265317.1:p.Val18Met, NP_001070952.1:p.Val18Met, NP_001265318.1:p.Val18Met, XP_016875479.1:p.Val18Met, XP_047285553.1:p.Val18Met, XP_047285548.1:p.Val18Met, XP_047285550.1:p.Val18Met, XP_047285547.1:p.Val18Met, XP_047285544.1:p.Val18Met, XP_047285552.1:p.Val18Met, XP_047285551.1:p.Val18Met, XP_047285554.1:p.Val18Met, XP_047285549.1:p.Val18Met, XP_047285546.1:p.Val18Met, XP_047285545.1:p.Val18Met, XP_047285557.1:p.Val18Met, XP_047285566.1:p.Val18Met, XP_047285556.1:p.Val18Met, XP_047285564.1:p.Val18Met, XP_047285568.1:p.Val18Met, XP_047285555.1:p.Val18Met, XP_047285559.1:p.Val18Met, XP_047285567.1:p.Val18Met, XP_047285558.1:p.Val18Met, XP_047285565.1:p.Val18Met, XP_047285561.1:p.Val18Met, XP_047285572.1:p.Val18Met, XP_047285560.1:p.Val18Met, XP_047285569.1:p.Val18Met, XP_047285562.1:p.Val18Met, XP_047285563.1:p.Val18Met, XP_047285533.1:p.Val18Met, XP_047285570.1:p.Val18Met, XP_047285571.1:p.Val18Met, XP_047285532.1:p.Val18Met, XP_047285537.1:p.Val18Met, XP_047285531.1:p.Val18Met, XP_047285536.1:p.Val18Met, XP_047285543.1:p.Val18Met, XP_047285534.1:p.Val18Met, XP_047285538.1:p.Val18Met, XP_047285542.1:p.Val18Met, XP_047285539.1:p.Val18Met, XP_047285535.1:p.Val18Met, XP_047285540.1:p.Val18Met, XP_047285541.1:p.Val18Met, NP_001265319.1:p.Val18Met

                                16.

                                rs1463537838 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:46239760 (GRCh38)
                                  12:46633543 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:46239759:T:C
                                  Gene:
                                  SLC38A1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.46239760T>C, NC_000012.11:g.46633543T>C, NM_030674.4:c.41A>G, NM_030674.3:c.41A>G, XM_011538786.3:c.41A>G, XM_011538786.2:c.41A>G, XM_011538786.1:c.41A>G, XM_011538787.3:c.41A>G, XM_011538787.2:c.41A>G, XM_011538787.1:c.41A>G, XM_011538784.3:c.41A>G, XM_011538784.2:c.41A>G, XM_011538784.1:c.41A>G, NM_001278387.2:c.41A>G, NM_001278387.1:c.41A>G, NM_001278388.2:c.41A>G, NM_001278388.1:c.41A>G, NM_001077484.2:c.41A>G, NM_001077484.1:c.41A>G, NM_001278389.2:c.41A>G, NM_001278389.1:c.41A>G, XM_017019990.2:c.41A>G, XM_017019990.1:c.41A>G, XM_047429597.1:c.41A>G, XM_047429592.1:c.41A>G, XM_047429594.1:c.41A>G, XM_047429591.1:c.41A>G, XM_047429588.1:c.41A>G, XM_047429596.1:c.41A>G, XM_047429595.1:c.41A>G, XM_047429598.1:c.41A>G, XM_047429593.1:c.41A>G, XM_047429590.1:c.41A>G, XM_047429589.1:c.41A>G, XM_047429601.1:c.41A>G, XM_047429610.1:c.41A>G, XM_047429600.1:c.41A>G, XM_047429608.1:c.41A>G, XM_047429612.1:c.41A>G, XM_047429599.1:c.41A>G, XM_047429603.1:c.41A>G, XM_047429611.1:c.41A>G, XM_047429602.1:c.41A>G, XM_047429609.1:c.41A>G, XM_047429605.1:c.41A>G, XM_047429616.1:c.41A>G, XM_047429604.1:c.41A>G, XM_047429613.1:c.41A>G, XM_047429606.1:c.41A>G, XM_047429607.1:c.41A>G, XM_047429577.1:c.41A>G, XM_047429614.1:c.41A>G, XM_047429615.1:c.41A>G, XM_047429576.1:c.41A>G, XM_047429581.1:c.41A>G, XM_047429575.1:c.41A>G, XM_047429580.1:c.41A>G, XM_047429587.1:c.41A>G, XM_047429578.1:c.41A>G, XM_047429582.1:c.41A>G, XM_047429586.1:c.41A>G, XM_047429583.1:c.41A>G, XM_047429579.1:c.41A>G, XM_047429584.1:c.41A>G, XM_047429585.1:c.41A>G, NM_001278390.1:c.41A>G, NP_109599.3:p.Gln14Arg, XP_011537088.1:p.Gln14Arg, XP_011537089.1:p.Gln14Arg, XP_011537086.1:p.Gln14Arg, NP_001265316.1:p.Gln14Arg, NP_001265317.1:p.Gln14Arg, NP_001070952.1:p.Gln14Arg, NP_001265318.1:p.Gln14Arg, XP_016875479.1:p.Gln14Arg, XP_047285553.1:p.Gln14Arg, XP_047285548.1:p.Gln14Arg, XP_047285550.1:p.Gln14Arg, XP_047285547.1:p.Gln14Arg, XP_047285544.1:p.Gln14Arg, XP_047285552.1:p.Gln14Arg, XP_047285551.1:p.Gln14Arg, XP_047285554.1:p.Gln14Arg, XP_047285549.1:p.Gln14Arg, XP_047285546.1:p.Gln14Arg, XP_047285545.1:p.Gln14Arg, XP_047285557.1:p.Gln14Arg, XP_047285566.1:p.Gln14Arg, XP_047285556.1:p.Gln14Arg, XP_047285564.1:p.Gln14Arg, XP_047285568.1:p.Gln14Arg, XP_047285555.1:p.Gln14Arg, XP_047285559.1:p.Gln14Arg, XP_047285567.1:p.Gln14Arg, XP_047285558.1:p.Gln14Arg, XP_047285565.1:p.Gln14Arg, XP_047285561.1:p.Gln14Arg, XP_047285572.1:p.Gln14Arg, XP_047285560.1:p.Gln14Arg, XP_047285569.1:p.Gln14Arg, XP_047285562.1:p.Gln14Arg, XP_047285563.1:p.Gln14Arg, XP_047285533.1:p.Gln14Arg, XP_047285570.1:p.Gln14Arg, XP_047285571.1:p.Gln14Arg, XP_047285532.1:p.Gln14Arg, XP_047285537.1:p.Gln14Arg, XP_047285531.1:p.Gln14Arg, XP_047285536.1:p.Gln14Arg, XP_047285543.1:p.Gln14Arg, XP_047285534.1:p.Gln14Arg, XP_047285538.1:p.Gln14Arg, XP_047285542.1:p.Gln14Arg, XP_047285539.1:p.Gln14Arg, XP_047285535.1:p.Gln14Arg, XP_047285540.1:p.Gln14Arg, XP_047285541.1:p.Gln14Arg, NP_001265319.1:p.Gln14Arg

                                  17.

                                  rs1461926817 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:46207201 (GRCh38)
                                    12:46600984 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:46207200:G:A
                                    Gene:
                                    SLC38A1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000047/1 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.46207201G>A, NC_000012.11:g.46600984G>A, NM_030674.4:c.517C>T, NM_030674.3:c.517C>T, XM_011538786.3:c.517C>T, XM_011538786.2:c.517C>T, XM_011538786.1:c.517C>T, XM_011538787.3:c.517C>T, XM_011538787.2:c.517C>T, XM_011538787.1:c.517C>T, XM_011538784.3:c.517C>T, XM_011538784.2:c.517C>T, XM_011538784.1:c.517C>T, NM_001278387.2:c.517C>T, NM_001278387.1:c.517C>T, NM_001278388.2:c.517C>T, NM_001278388.1:c.517C>T, NM_001077484.2:c.517C>T, NM_001077484.1:c.517C>T, NM_001278389.2:c.517C>T, NM_001278389.1:c.517C>T, XM_017019990.2:c.517C>T, XM_017019990.1:c.517C>T, XM_047429597.1:c.517C>T, XM_047429592.1:c.517C>T, XM_047429594.1:c.517C>T, XM_047429591.1:c.517C>T, XM_047429588.1:c.517C>T, XM_047429596.1:c.517C>T, XM_047429595.1:c.517C>T, XM_047429598.1:c.517C>T, XM_047429593.1:c.517C>T, XM_047429590.1:c.517C>T, XM_047429589.1:c.517C>T, XM_047429601.1:c.517C>T, XM_047429610.1:c.517C>T, XM_047429600.1:c.517C>T, XM_047429608.1:c.517C>T, XM_047429612.1:c.517C>T, XM_047429599.1:c.517C>T, XM_047429603.1:c.517C>T, XM_047429611.1:c.517C>T, XM_047429602.1:c.517C>T, XM_047429609.1:c.517C>T, XM_047429605.1:c.517C>T, XM_047429616.1:c.517C>T, XM_047429604.1:c.517C>T, XM_047429613.1:c.517C>T, XM_047429606.1:c.517C>T, XM_047429607.1:c.517C>T, XM_047429577.1:c.517C>T, XM_047429614.1:c.517C>T, XM_047429615.1:c.517C>T, XM_047429576.1:c.517C>T, XM_047429581.1:c.517C>T, XM_047429575.1:c.517C>T, XM_047429580.1:c.517C>T, XM_047429587.1:c.517C>T, XM_047429578.1:c.517C>T, XM_047429582.1:c.517C>T, XM_047429586.1:c.517C>T, XM_047429583.1:c.517C>T, XM_047429579.1:c.517C>T, XM_047429584.1:c.517C>T, XM_047429585.1:c.517C>T, NM_001278390.1:c.517C>T

                                    18.

                                    rs1455276241 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      12:46207564 (GRCh38)
                                      12:46601347 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:46207563:A:G
                                      Gene:
                                      SLC38A1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.46207564A>G, NC_000012.11:g.46601347A>G, NM_030674.4:c.446T>C, NM_030674.3:c.446T>C, XM_011538786.3:c.446T>C, XM_011538786.2:c.446T>C, XM_011538786.1:c.446T>C, XM_011538787.3:c.446T>C, XM_011538787.2:c.446T>C, XM_011538787.1:c.446T>C, XM_011538784.3:c.446T>C, XM_011538784.2:c.446T>C, XM_011538784.1:c.446T>C, NM_001278387.2:c.446T>C, NM_001278387.1:c.446T>C, NM_001278388.2:c.446T>C, NM_001278388.1:c.446T>C, NM_001077484.2:c.446T>C, NM_001077484.1:c.446T>C, NM_001278389.2:c.446T>C, NM_001278389.1:c.446T>C, XM_017019990.2:c.446T>C, XM_017019990.1:c.446T>C, XM_047429597.1:c.446T>C, XM_047429592.1:c.446T>C, XM_047429594.1:c.446T>C, XM_047429591.1:c.446T>C, XM_047429588.1:c.446T>C, XM_047429596.1:c.446T>C, XM_047429595.1:c.446T>C, XM_047429598.1:c.446T>C, XM_047429593.1:c.446T>C, XM_047429590.1:c.446T>C, XM_047429589.1:c.446T>C, XM_047429601.1:c.446T>C, XM_047429610.1:c.446T>C, XM_047429600.1:c.446T>C, XM_047429608.1:c.446T>C, XM_047429612.1:c.446T>C, XM_047429599.1:c.446T>C, XM_047429603.1:c.446T>C, XM_047429611.1:c.446T>C, XM_047429602.1:c.446T>C, XM_047429609.1:c.446T>C, XM_047429605.1:c.446T>C, XM_047429616.1:c.446T>C, XM_047429604.1:c.446T>C, XM_047429613.1:c.446T>C, XM_047429606.1:c.446T>C, XM_047429607.1:c.446T>C, XM_047429577.1:c.446T>C, XM_047429614.1:c.446T>C, XM_047429615.1:c.446T>C, XM_047429576.1:c.446T>C, XM_047429581.1:c.446T>C, XM_047429575.1:c.446T>C, XM_047429580.1:c.446T>C, XM_047429587.1:c.446T>C, XM_047429578.1:c.446T>C, XM_047429582.1:c.446T>C, XM_047429586.1:c.446T>C, XM_047429583.1:c.446T>C, XM_047429579.1:c.446T>C, XM_047429584.1:c.446T>C, XM_047429585.1:c.446T>C, NM_001278390.1:c.446T>C, NP_109599.3:p.Val149Ala, XP_011537088.1:p.Val149Ala, XP_011537089.1:p.Val149Ala, XP_011537086.1:p.Val149Ala, NP_001265316.1:p.Val149Ala, NP_001265317.1:p.Val149Ala, NP_001070952.1:p.Val149Ala, NP_001265318.1:p.Val149Ala, XP_016875479.1:p.Val149Ala, XP_047285553.1:p.Val149Ala, XP_047285548.1:p.Val149Ala, XP_047285550.1:p.Val149Ala, XP_047285547.1:p.Val149Ala, XP_047285544.1:p.Val149Ala, XP_047285552.1:p.Val149Ala, XP_047285551.1:p.Val149Ala, XP_047285554.1:p.Val149Ala, XP_047285549.1:p.Val149Ala, XP_047285546.1:p.Val149Ala, XP_047285545.1:p.Val149Ala, XP_047285557.1:p.Val149Ala, XP_047285566.1:p.Val149Ala, XP_047285556.1:p.Val149Ala, XP_047285564.1:p.Val149Ala, XP_047285568.1:p.Val149Ala, XP_047285555.1:p.Val149Ala, XP_047285559.1:p.Val149Ala, XP_047285567.1:p.Val149Ala, XP_047285558.1:p.Val149Ala, XP_047285565.1:p.Val149Ala, XP_047285561.1:p.Val149Ala, XP_047285572.1:p.Val149Ala, XP_047285560.1:p.Val149Ala, XP_047285569.1:p.Val149Ala, XP_047285562.1:p.Val149Ala, XP_047285563.1:p.Val149Ala, XP_047285533.1:p.Val149Ala, XP_047285570.1:p.Val149Ala, XP_047285571.1:p.Val149Ala, XP_047285532.1:p.Val149Ala, XP_047285537.1:p.Val149Ala, XP_047285531.1:p.Val149Ala, XP_047285536.1:p.Val149Ala, XP_047285543.1:p.Val149Ala, XP_047285534.1:p.Val149Ala, XP_047285538.1:p.Val149Ala, XP_047285542.1:p.Val149Ala, XP_047285539.1:p.Val149Ala, XP_047285535.1:p.Val149Ala, XP_047285540.1:p.Val149Ala, XP_047285541.1:p.Val149Ala, NP_001265319.1:p.Val149Ala

                                      19.

                                      rs1455052480 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:46209082 (GRCh38)
                                        12:46602865 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:46209081:G:A
                                        Gene:
                                        SLC38A1 (Varview)
                                        Functional Consequence:
                                        synonymous_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_000012.12:g.46209082G>A, NC_000012.11:g.46602865G>A, NM_030674.4:c.360C>T, NM_030674.3:c.360C>T, XM_011538786.3:c.360C>T, XM_011538786.2:c.360C>T, XM_011538786.1:c.360C>T, XM_011538787.3:c.360C>T, XM_011538787.2:c.360C>T, XM_011538787.1:c.360C>T, XM_011538784.3:c.360C>T, XM_011538784.2:c.360C>T, XM_011538784.1:c.360C>T, NM_001278387.2:c.360C>T, NM_001278387.1:c.360C>T, NM_001278388.2:c.360C>T, NM_001278388.1:c.360C>T, NM_001077484.2:c.360C>T, NM_001077484.1:c.360C>T, NM_001278389.2:c.360C>T, NM_001278389.1:c.360C>T, XM_017019990.2:c.360C>T, XM_017019990.1:c.360C>T, XM_047429597.1:c.360C>T, XM_047429592.1:c.360C>T, XM_047429594.1:c.360C>T, XM_047429591.1:c.360C>T, XM_047429588.1:c.360C>T, XM_047429596.1:c.360C>T, XM_047429595.1:c.360C>T, XM_047429598.1:c.360C>T, XM_047429593.1:c.360C>T, XM_047429590.1:c.360C>T, XM_047429589.1:c.360C>T, XM_047429601.1:c.360C>T, XM_047429610.1:c.360C>T, XM_047429600.1:c.360C>T, XM_047429608.1:c.360C>T, XM_047429612.1:c.360C>T, XM_047429599.1:c.360C>T, XM_047429603.1:c.360C>T, XM_047429611.1:c.360C>T, XM_047429602.1:c.360C>T, XM_047429609.1:c.360C>T, XM_047429605.1:c.360C>T, XM_047429616.1:c.360C>T, XM_047429604.1:c.360C>T, XM_047429613.1:c.360C>T, XM_047429606.1:c.360C>T, XM_047429607.1:c.360C>T, XM_047429577.1:c.360C>T, XM_047429614.1:c.360C>T, XM_047429615.1:c.360C>T, XM_047429576.1:c.360C>T, XM_047429581.1:c.360C>T, XM_047429575.1:c.360C>T, XM_047429580.1:c.360C>T, XM_047429587.1:c.360C>T, XM_047429578.1:c.360C>T, XM_047429582.1:c.360C>T, XM_047429586.1:c.360C>T, XM_047429583.1:c.360C>T, XM_047429579.1:c.360C>T, XM_047429584.1:c.360C>T, XM_047429585.1:c.360C>T, NM_001278390.1:c.360C>T

                                        20.

                                        rs1454160678 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          12:46188977 (GRCh38)
                                          12:46582760 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:46188976:C:A
                                          Gene:
                                          SLC38A1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000111/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.46188977C>A, NC_000012.11:g.46582760C>A, NM_030674.4:c.1457G>T, NM_030674.3:c.1457G>T, NM_001278387.2:c.1457G>T, NM_001278387.1:c.1457G>T, NM_001278388.2:c.1457G>T, NM_001278388.1:c.1457G>T, NM_001077484.2:c.1457G>T, NM_001077484.1:c.1457G>T, NM_001278389.2:c.1457G>T, NM_001278389.1:c.1457G>T, XM_047429597.1:c.1457G>T, XM_047429592.1:c.1457G>T, XM_047429594.1:c.1457G>T, XM_047429591.1:c.1457G>T, XM_047429588.1:c.1457G>T, XM_047429596.1:c.1457G>T, XM_047429595.1:c.1457G>T, XM_047429598.1:c.1457G>T, XM_047429593.1:c.1457G>T, XM_047429590.1:c.1457G>T, XM_047429589.1:c.1457G>T, NP_109599.3:p.Gly486Val, NP_001265316.1:p.Gly486Val, NP_001265317.1:p.Gly486Val, NP_001070952.1:p.Gly486Val, NP_001265318.1:p.Gly486Val, XP_047285553.1:p.Gly486Val, XP_047285548.1:p.Gly486Val, XP_047285550.1:p.Gly486Val, XP_047285547.1:p.Gly486Val, XP_047285544.1:p.Gly486Val, XP_047285552.1:p.Gly486Val, XP_047285551.1:p.Gly486Val, XP_047285554.1:p.Gly486Val, XP_047285549.1:p.Gly486Val, XP_047285546.1:p.Gly486Val, XP_047285545.1:p.Gly486Val

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