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Items: 1 to 20 of 662

1.

rs1490605333 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    5:55702884 (GRCh38)
    5:54998712 (GRCh37)
    Canonical SPDI:
    NC_000005.10:55702883:G:A
    Gene:
    SLC38A9 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    A=0.000156/1 (1000Genomes)
    HGVS:
    NC_000005.10:g.55702884G>A, NC_000005.9:g.54998712G>A, XM_006714539.4:c.-180C>T, XM_006714539.3:c.-180C>T, XM_006714539.2:c.-180C>T, XM_006714539.1:c.-180C>T, XM_011543174.2:c.-180C>T, XM_011543174.1:c.-180C>T, XM_011543176.2:c.-180C>T, XM_011543176.1:c.-180C>T, XM_011543177.2:c.-180C>T, XM_011543177.1:c.-180C>T, XM_011543178.2:c.-180C>T, XM_011543178.1:c.-180C>T, XM_011543180.2:c.-180C>T, XM_011543180.1:c.-180C>T, XM_011543183.2:c.-180C>T, XM_011543183.1:c.-180C>T, XM_047416778.1:c.-180C>T, NM_001349382.1:c.-180C>T, NM_001349383.1:c.-180C>T, XM_047416780.1:c.-180C>T, XM_047416781.1:c.-180C>T, XM_047416784.1:c.-180C>T, XM_047416787.1:c.-180C>T, XM_047416788.1:c.-180C>T, XM_047416783.1:c.-180C>T, XM_047416790.1:c.-180C>T, XM_047416792.1:c.-180C>T, XM_047416786.1:c.-180C>T, XM_047416793.1:c.-180C>T, XM_047416795.1:c.-180C>T, XM_047416798.1:c.-180C>T

    2.

    rs1488636361 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      5:55669766 (GRCh38)
      5:54965594 (GRCh37)
      Canonical SPDI:
      NC_000005.10:55669765:T:A
      Gene:
      SLC38A9 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.55669766T>A, NC_000005.9:g.54965594T>A, XM_006714539.4:c.360A>T, XM_006714539.3:c.360A>T, XM_006714539.2:c.360A>T, XM_006714539.1:c.360A>T, NM_173514.4:c.360A>T, NM_173514.3:c.360A>T, XM_017009078.3:c.360A>T, XM_017009078.2:c.360A>T, XM_017009078.1:c.360A>T, XM_011543174.2:c.360A>T, XM_011543174.1:c.360A>T, XM_011543176.2:c.360A>T, XM_011543176.1:c.360A>T, XM_011543177.2:c.360A>T, XM_011543177.1:c.360A>T, XM_011543178.2:c.360A>T, XM_011543178.1:c.360A>T, XM_011543180.2:c.360A>T, XM_011543180.1:c.360A>T, XM_017009080.2:c.360A>T, XM_017009080.1:c.360A>T, XM_017009077.2:c.360A>T, XM_017009077.1:c.360A>T, XM_011543183.2:c.360A>T, XM_011543183.1:c.360A>T, XM_024454369.2:c.360A>T, XM_024454369.1:c.360A>T, XM_017009081.2:c.360A>T, XM_017009081.1:c.360A>T, XM_017009082.2:c.360A>T, XM_017009082.1:c.360A>T, XM_047416778.1:c.360A>T, NM_001349382.1:c.360A>T, NM_001349383.1:c.360A>T, XM_047416780.1:c.360A>T, XM_047416781.1:c.360A>T, NM_001258286.1:c.171A>T, NM_001258287.1:c.279A>T, NR_047649.1:n.711A>T, NM_001349384.1:c.360A>T, XM_047416784.1:c.360A>T, XM_047416787.1:c.360A>T, XM_047416788.1:c.360A>T, XM_047416783.1:c.360A>T, XM_047416779.1:c.360A>T, XM_047416790.1:c.360A>T, XM_047416782.1:c.360A>T, XM_047416792.1:c.360A>T, XM_047416786.1:c.360A>T, XM_047416793.1:c.360A>T, XM_047416795.1:c.360A>T, NR_146165.1:n.561A>T, XM_047416785.1:c.360A>T, NR_047650.1:n.428A>T, NM_001282429.1:c.-13A>T, XM_047416791.1:c.360A>T, XM_047416794.1:c.360A>T, NM_001349385.1:c.360A>T, XM_047416797.1:c.360A>T, XM_047416789.1:c.360A>T, XM_047416796.1:c.360A>T, XM_047416799.1:c.360A>T, XR_007058582.1:n.561A>T, XM_047416798.1:c.360A>T, XR_007058583.1:n.561A>T, XP_006714602.1:p.Leu120Phe, NP_775785.2:p.Leu120Phe, XP_016864567.1:p.Leu120Phe, XP_011541476.1:p.Leu120Phe, XP_011541478.1:p.Leu120Phe, XP_011541479.1:p.Leu120Phe, XP_011541480.1:p.Leu120Phe, XP_011541482.1:p.Leu120Phe, XP_016864569.1:p.Leu120Phe, XP_016864566.1:p.Leu120Phe, XP_011541485.1:p.Leu120Phe, XP_024310137.1:p.Leu120Phe, XP_016864570.1:p.Leu120Phe, XP_016864571.1:p.Leu120Phe, XP_047272734.1:p.Leu120Phe, NP_001336311.1:p.Leu120Phe, NP_001336312.1:p.Leu120Phe, XP_047272736.1:p.Leu120Phe, XP_047272737.1:p.Leu120Phe, NP_001245215.1:p.Leu57Phe, NP_001245216.1:p.Leu93Phe, NP_001336313.1:p.Leu120Phe, XP_047272740.1:p.Leu120Phe, XP_047272743.1:p.Leu120Phe, XP_047272744.1:p.Leu120Phe, XP_047272739.1:p.Leu120Phe, XP_047272735.1:p.Leu120Phe, XP_047272746.1:p.Leu120Phe, XP_047272738.1:p.Leu120Phe, XP_047272748.1:p.Leu120Phe, XP_047272742.1:p.Leu120Phe, XP_047272749.1:p.Leu120Phe, XP_047272751.1:p.Leu120Phe, XP_047272741.1:p.Leu120Phe, XP_047272747.1:p.Leu120Phe, XP_047272750.1:p.Leu120Phe, NP_001336314.1:p.Leu120Phe, XP_047272753.1:p.Leu120Phe, XP_047272745.1:p.Leu120Phe, XP_047272752.1:p.Leu120Phe, XP_047272755.1:p.Leu120Phe, XP_047272754.1:p.Leu120Phe

      3.

      rs1488115778 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:55627945 (GRCh38)
        5:54923773 (GRCh37)
        Canonical SPDI:
        NC_000005.10:55627944:A:G
        Gene:
        SLC38A9 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000005.10:g.55627945A>G, NC_000005.9:g.54923773A>G, XM_006714539.4:c.1466T>C, XM_006714539.3:c.1466T>C, XM_006714539.2:c.1466T>C, XM_006714539.1:c.1466T>C, NM_173514.4:c.1466T>C, NM_173514.3:c.1466T>C, XM_017009078.3:c.1295T>C, XM_017009078.2:c.1295T>C, XM_017009078.1:c.1295T>C, XM_011543174.2:c.1466T>C, XM_011543174.1:c.1466T>C, XM_011543177.2:c.1358T>C, XM_011543177.1:c.1358T>C, XM_011543178.2:c.1295T>C, XM_011543178.1:c.1295T>C, XM_011543180.2:c.1163T>C, XM_011543180.1:c.1163T>C, XM_017009080.2:c.1271T>C, XM_017009080.1:c.1271T>C, XM_011543183.2:c.1100T>C, XM_011543183.1:c.1100T>C, XM_024454369.2:c.1358T>C, XM_024454369.1:c.1358T>C, XM_017009082.2:c.1163T>C, XM_017009082.1:c.1163T>C, XM_047416778.1:c.1466T>C, NM_001349382.1:c.1466T>C, NM_001349383.1:c.1466T>C, XM_047416781.1:c.1358T>C, NM_001258286.1:c.1277T>C, NM_001258287.1:c.1277T>C, NR_047649.1:n.1782T>C, NM_001349384.1:c.1466T>C, XM_047416784.1:c.1295T>C, XM_047416787.1:c.1271T>C, XM_047416788.1:c.1271T>C, XM_047416783.1:c.1358T>C, XM_047416782.1:c.1358T>C, XM_047416792.1:c.1187T>C, XM_047416786.1:c.1295T>C, XM_047416795.1:c.1163T>C, NR_146165.1:n.1617T>C, XM_047416785.1:c.1295T>C, NR_047650.1:n.1534T>C, NM_001282429.1:c.1094T>C, XM_047416794.1:c.1163T>C, NM_001349385.1:c.1271T>C, XM_047416797.1:c.1100T>C, XM_047416796.1:c.1100T>C, XM_047416799.1:c.992T>C, XR_007058582.1:n.1726T>C, XR_007058583.1:n.1676T>C, XP_006714602.1:p.Val489Ala, NP_775785.2:p.Val489Ala, XP_016864567.1:p.Val432Ala, XP_011541476.1:p.Val489Ala, XP_011541479.1:p.Val453Ala, XP_011541480.1:p.Val432Ala, XP_011541482.1:p.Val388Ala, XP_016864569.1:p.Val424Ala, XP_011541485.1:p.Val367Ala, XP_024310137.1:p.Val453Ala, XP_016864571.1:p.Val388Ala, XP_047272734.1:p.Val489Ala, NP_001336311.1:p.Val489Ala, NP_001336312.1:p.Val489Ala, XP_047272737.1:p.Val453Ala, NP_001245215.1:p.Val426Ala, NP_001245216.1:p.Val426Ala, NP_001336313.1:p.Val489Ala, XP_047272740.1:p.Val432Ala, XP_047272743.1:p.Val424Ala, XP_047272744.1:p.Val424Ala, XP_047272739.1:p.Val453Ala, XP_047272738.1:p.Val453Ala, XP_047272748.1:p.Val396Ala, XP_047272742.1:p.Val432Ala, XP_047272751.1:p.Val388Ala, XP_047272741.1:p.Val432Ala, NP_001269358.1:p.Val365Ala, XP_047272750.1:p.Val388Ala, NP_001336314.1:p.Val424Ala, XP_047272753.1:p.Val367Ala, XP_047272752.1:p.Val367Ala, XP_047272755.1:p.Val331Ala

        4.

        rs1486668492 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:55649215 (GRCh38)
          5:54945043 (GRCh37)
          Canonical SPDI:
          NC_000005.10:55649214:A:G
          Gene:
          SLC38A9 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000005.10:g.55649215A>G, NC_000005.9:g.54945043A>G, XM_006714539.4:c.1052T>C, XM_006714539.3:c.1052T>C, XM_006714539.2:c.1052T>C, XM_006714539.1:c.1052T>C, NM_173514.4:c.1052T>C, NM_173514.3:c.1052T>C, XM_017009078.3:c.881T>C, XM_017009078.2:c.881T>C, XM_017009078.1:c.881T>C, XM_011543174.2:c.1052T>C, XM_011543174.1:c.1052T>C, XM_011543176.2:c.1052T>C, XM_011543176.1:c.1052T>C, XM_011543178.2:c.881T>C, XM_011543178.1:c.881T>C, XM_017009080.2:c.857T>C, XM_017009080.1:c.857T>C, XM_017009077.2:c.1052T>C, XM_017009077.1:c.1052T>C, XM_011543183.2:c.686T>C, XM_011543183.1:c.686T>C, XM_017009081.2:c.857T>C, XM_017009081.1:c.857T>C, XM_047416778.1:c.1052T>C, NM_001349382.1:c.1052T>C, NM_001349383.1:c.1052T>C, XM_047416780.1:c.1052T>C, NM_001258286.1:c.863T>C, NR_047649.1:n.1403T>C, NM_001349384.1:c.1052T>C, XM_047416784.1:c.881T>C, XM_047416787.1:c.857T>C, XM_047416788.1:c.857T>C, XM_047416779.1:c.1052T>C, XM_047416790.1:c.881T>C, XM_047416786.1:c.881T>C, XM_047416793.1:c.857T>C, NR_146165.1:n.1253T>C, XM_047416785.1:c.881T>C, NR_047650.1:n.1120T>C, NM_001282429.1:c.680T>C, XM_047416791.1:c.881T>C, NM_001349385.1:c.857T>C, XM_047416797.1:c.686T>C, XM_047416789.1:c.881T>C, XM_047416796.1:c.686T>C, XR_007058582.1:n.1253T>C, XM_047416798.1:c.1052T>C, XR_007058583.1:n.1253T>C, XP_006714602.1:p.Phe351Ser, NP_775785.2:p.Phe351Ser, XP_016864567.1:p.Phe294Ser, XP_011541476.1:p.Phe351Ser, XP_011541478.1:p.Phe351Ser, XP_011541480.1:p.Phe294Ser, XP_016864569.1:p.Phe286Ser, XP_016864566.1:p.Phe351Ser, XP_011541485.1:p.Phe229Ser, XP_016864570.1:p.Phe286Ser, XP_047272734.1:p.Phe351Ser, NP_001336311.1:p.Phe351Ser, NP_001336312.1:p.Phe351Ser, XP_047272736.1:p.Phe351Ser, NP_001245215.1:p.Phe288Ser, NP_001336313.1:p.Phe351Ser, XP_047272740.1:p.Phe294Ser, XP_047272743.1:p.Phe286Ser, XP_047272744.1:p.Phe286Ser, XP_047272735.1:p.Phe351Ser, XP_047272746.1:p.Phe294Ser, XP_047272742.1:p.Phe294Ser, XP_047272749.1:p.Phe286Ser, XP_047272741.1:p.Phe294Ser, NP_001269358.1:p.Phe227Ser, XP_047272747.1:p.Phe294Ser, NP_001336314.1:p.Phe286Ser, XP_047272753.1:p.Phe229Ser, XP_047272745.1:p.Phe294Ser, XP_047272752.1:p.Phe229Ser, XP_047272754.1:p.Phe351Ser

          5.

          rs1486653573 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            5:55635652 (GRCh38)
            5:54931480 (GRCh37)
            Canonical SPDI:
            NC_000005.10:55635651:C:T
            Gene:
            SLC38A9 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000005.10:g.55635652C>T, NC_000005.9:g.54931480C>T, XM_006714539.4:c.1173G>A, XM_006714539.3:c.1173G>A, XM_006714539.2:c.1173G>A, XM_006714539.1:c.1173G>A, NM_173514.4:c.1173G>A, NM_173514.3:c.1173G>A, XM_017009078.3:c.1002G>A, XM_017009078.2:c.1002G>A, XM_017009078.1:c.1002G>A, XM_011543174.2:c.1173G>A, XM_011543174.1:c.1173G>A, XM_011543176.2:c.1173G>A, XM_011543176.1:c.1173G>A, XM_011543177.2:c.1065G>A, XM_011543177.1:c.1065G>A, XM_011543178.2:c.1002G>A, XM_011543178.1:c.1002G>A, XM_011543180.2:c.870G>A, XM_011543180.1:c.870G>A, XM_017009080.2:c.978G>A, XM_017009080.1:c.978G>A, XM_017009077.2:c.1173G>A, XM_017009077.1:c.1173G>A, XM_011543183.2:c.807G>A, XM_011543183.1:c.807G>A, XM_024454369.2:c.1065G>A, XM_024454369.1:c.1065G>A, XM_017009081.2:c.978G>A, XM_017009081.1:c.978G>A, XM_017009082.2:c.870G>A, XM_017009082.1:c.870G>A, XM_047416778.1:c.1173G>A, NM_001349382.1:c.1173G>A, NM_001349383.1:c.1173G>A, XM_047416780.1:c.1173G>A, XM_047416781.1:c.1065G>A, NM_001258286.1:c.984G>A, NM_001258287.1:c.984G>A, NR_047649.1:n.1524G>A, NM_001349384.1:c.1173G>A, XM_047416784.1:c.1002G>A, XM_047416787.1:c.978G>A, XM_047416788.1:c.978G>A, XM_047416783.1:c.1065G>A, XM_047416779.1:c.1173G>A, XM_047416790.1:c.1002G>A, XM_047416782.1:c.1065G>A, XM_047416792.1:c.894G>A, XM_047416786.1:c.1002G>A, XM_047416793.1:c.978G>A, XM_047416795.1:c.870G>A, NR_146165.1:n.1374G>A, XM_047416785.1:c.1002G>A, NR_047650.1:n.1241G>A, NM_001282429.1:c.801G>A, XM_047416791.1:c.1002G>A, XM_047416794.1:c.870G>A, NM_001349385.1:c.978G>A, XM_047416797.1:c.807G>A, XM_047416789.1:c.1002G>A, XM_047416796.1:c.807G>A, XM_047416799.1:c.699G>A, XR_007058582.1:n.1374G>A, XR_007058583.1:n.1374G>A

            6.

            rs1486511363 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              5:55626622 (GRCh38)
              5:54922450 (GRCh37)
              Canonical SPDI:
              NC_000005.10:55626621:T:C,NC_000005.10:55626621:T:G
              Gene:
              SLC38A9 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              HGVS:
              NC_000005.10:g.55626622T>C, NC_000005.10:g.55626622T>G, NC_000005.9:g.54922450T>C, NC_000005.9:g.54922450T>G, XM_006714539.4:c.1558A>G, XM_006714539.4:c.1558A>C, XM_006714539.3:c.1558A>G, XM_006714539.3:c.1558A>C, XM_006714539.2:c.1558A>G, XM_006714539.2:c.1558A>C, XM_006714539.1:c.1558A>G, XM_006714539.1:c.1558A>C, NM_173514.4:c.1558A>G, NM_173514.4:c.1558A>C, NM_173514.3:c.1558A>G, NM_173514.3:c.1558A>C, XM_017009078.3:c.1387A>G, XM_017009078.3:c.1387A>C, XM_017009078.2:c.1387A>G, XM_017009078.2:c.1387A>C, XM_017009078.1:c.1387A>G, XM_017009078.1:c.1387A>C, XM_011543174.2:c.1558A>G, XM_011543174.2:c.1558A>C, XM_011543174.1:c.1558A>G, XM_011543174.1:c.1558A>C, XM_011543176.2:c.1468A>G, XM_011543176.2:c.1468A>C, XM_011543176.1:c.1468A>G, XM_011543176.1:c.1468A>C, XM_011543177.2:c.1450A>G, XM_011543177.2:c.1450A>C, XM_011543177.1:c.1450A>G, XM_011543177.1:c.1450A>C, XM_011543178.2:c.1387A>G, XM_011543178.2:c.1387A>C, XM_011543178.1:c.1387A>G, XM_011543178.1:c.1387A>C, XM_011543180.2:c.1255A>G, XM_011543180.2:c.1255A>C, XM_011543180.1:c.1255A>G, XM_011543180.1:c.1255A>C, XM_017009080.2:c.1363A>G, XM_017009080.2:c.1363A>C, XM_017009080.1:c.1363A>G, XM_017009080.1:c.1363A>C, XM_017009077.2:c.1468A>G, XM_017009077.2:c.1468A>C, XM_017009077.1:c.1468A>G, XM_017009077.1:c.1468A>C, XM_011543183.2:c.1192A>G, XM_011543183.2:c.1192A>C, XM_011543183.1:c.1192A>G, XM_011543183.1:c.1192A>C, XM_024454369.2:c.1450A>G, XM_024454369.2:c.1450A>C, XM_024454369.1:c.1450A>G, XM_024454369.1:c.1450A>C, XM_017009081.2:c.1273A>G, XM_017009081.2:c.1273A>C, XM_017009081.1:c.1273A>G, XM_017009081.1:c.1273A>C, XM_017009082.2:c.1255A>G, XM_017009082.2:c.1255A>C, XM_017009082.1:c.1255A>G, XM_017009082.1:c.1255A>C, XM_047416778.1:c.1558A>G, XM_047416778.1:c.1558A>C, NM_001349382.1:c.1558A>G, NM_001349382.1:c.1558A>C, NM_001349383.1:c.1558A>G, NM_001349383.1:c.1558A>C, XM_047416780.1:c.1468A>G, XM_047416780.1:c.1468A>C, XM_047416781.1:c.1450A>G, XM_047416781.1:c.1450A>C, NM_001258286.1:c.1369A>G, NM_001258286.1:c.1369A>C, NM_001258287.1:c.1369A>G, NM_001258287.1:c.1369A>C, NR_047649.1:n.1874A>G, NR_047649.1:n.1874A>C, NM_001349384.1:c.1558A>G, NM_001349384.1:c.1558A>C, XM_047416784.1:c.1387A>G, XM_047416784.1:c.1387A>C, XM_047416787.1:c.1363A>G, XM_047416787.1:c.1363A>C, XM_047416788.1:c.1363A>G, XM_047416788.1:c.1363A>C, XM_047416783.1:c.1450A>G, XM_047416783.1:c.1450A>C, XM_047416779.1:c.1468A>G, XM_047416779.1:c.1468A>C, XM_047416790.1:c.1297A>G, XM_047416790.1:c.1297A>C, XM_047416782.1:c.1450A>G, XM_047416782.1:c.1450A>C, XM_047416792.1:c.1279A>G, XM_047416792.1:c.1279A>C, XM_047416786.1:c.1387A>G, XM_047416786.1:c.1387A>C, XM_047416793.1:c.1273A>G, XM_047416793.1:c.1273A>C, XM_047416795.1:c.1255A>G, XM_047416795.1:c.1255A>C, NR_146165.1:n.1709A>G, NR_146165.1:n.1709A>C, XM_047416785.1:c.1387A>G, XM_047416785.1:c.1387A>C, NR_047650.1:n.1626A>G, NR_047650.1:n.1626A>C, NM_001282429.1:c.1186A>G, NM_001282429.1:c.1186A>C, XM_047416791.1:c.1297A>G, XM_047416791.1:c.1297A>C, XM_047416794.1:c.1255A>G, XM_047416794.1:c.1255A>C, NM_001349385.1:c.1363A>G, NM_001349385.1:c.1363A>C, XM_047416797.1:c.1192A>G, XM_047416797.1:c.1192A>C, XM_047416789.1:c.1297A>G, XM_047416789.1:c.1297A>C, XM_047416796.1:c.1192A>G, XM_047416796.1:c.1192A>C, XM_047416799.1:c.1084A>G, XM_047416799.1:c.1084A>C, XP_006714602.1:p.Ile520Val, XP_006714602.1:p.Ile520Leu, NP_775785.2:p.Ile520Val, NP_775785.2:p.Ile520Leu, XP_016864567.1:p.Ile463Val, XP_016864567.1:p.Ile463Leu, XP_011541476.1:p.Ile520Val, XP_011541476.1:p.Ile520Leu, XP_011541478.1:p.Ile490Val, XP_011541478.1:p.Ile490Leu, XP_011541479.1:p.Ile484Val, XP_011541479.1:p.Ile484Leu, XP_011541480.1:p.Ile463Val, XP_011541480.1:p.Ile463Leu, XP_011541482.1:p.Ile419Val, XP_011541482.1:p.Ile419Leu, XP_016864569.1:p.Ile455Val, XP_016864569.1:p.Ile455Leu, XP_016864566.1:p.Ile490Val, XP_016864566.1:p.Ile490Leu, XP_011541485.1:p.Ile398Val, XP_011541485.1:p.Ile398Leu, XP_024310137.1:p.Ile484Val, XP_024310137.1:p.Ile484Leu, XP_016864570.1:p.Ile425Val, XP_016864570.1:p.Ile425Leu, XP_016864571.1:p.Ile419Val, XP_016864571.1:p.Ile419Leu, XP_047272734.1:p.Ile520Val, XP_047272734.1:p.Ile520Leu, NP_001336311.1:p.Ile520Val, NP_001336311.1:p.Ile520Leu, NP_001336312.1:p.Ile520Val, NP_001336312.1:p.Ile520Leu, XP_047272736.1:p.Ile490Val, XP_047272736.1:p.Ile490Leu, XP_047272737.1:p.Ile484Val, XP_047272737.1:p.Ile484Leu, NP_001245215.1:p.Ile457Val, NP_001245215.1:p.Ile457Leu, NP_001245216.1:p.Ile457Val, NP_001245216.1:p.Ile457Leu, NP_001336313.1:p.Ile520Val, NP_001336313.1:p.Ile520Leu, XP_047272740.1:p.Ile463Val, XP_047272740.1:p.Ile463Leu, XP_047272743.1:p.Ile455Val, XP_047272743.1:p.Ile455Leu, XP_047272744.1:p.Ile455Val, XP_047272744.1:p.Ile455Leu, XP_047272739.1:p.Ile484Val, XP_047272739.1:p.Ile484Leu, XP_047272735.1:p.Ile490Val, XP_047272735.1:p.Ile490Leu, XP_047272746.1:p.Ile433Val, XP_047272746.1:p.Ile433Leu, XP_047272738.1:p.Ile484Val, XP_047272738.1:p.Ile484Leu, XP_047272748.1:p.Ile427Val, XP_047272748.1:p.Ile427Leu, XP_047272742.1:p.Ile463Val, XP_047272742.1:p.Ile463Leu, XP_047272749.1:p.Ile425Val, XP_047272749.1:p.Ile425Leu, XP_047272751.1:p.Ile419Val, XP_047272751.1:p.Ile419Leu, XP_047272741.1:p.Ile463Val, XP_047272741.1:p.Ile463Leu, NP_001269358.1:p.Ile396Val, NP_001269358.1:p.Ile396Leu, XP_047272747.1:p.Ile433Val, XP_047272747.1:p.Ile433Leu, XP_047272750.1:p.Ile419Val, XP_047272750.1:p.Ile419Leu, NP_001336314.1:p.Ile455Val, NP_001336314.1:p.Ile455Leu, XP_047272753.1:p.Ile398Val, XP_047272753.1:p.Ile398Leu, XP_047272745.1:p.Ile433Val, XP_047272745.1:p.Ile433Leu, XP_047272752.1:p.Ile398Val, XP_047272752.1:p.Ile398Leu, XP_047272755.1:p.Ile362Val, XP_047272755.1:p.Ile362Leu

              7.

              rs1485673566 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                5:55649306 (GRCh38)
                5:54945134 (GRCh37)
                Canonical SPDI:
                NC_000005.10:55649305:A:T
                Gene:
                SLC38A9 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000005.10:g.55649306A>T, NC_000005.9:g.54945134A>T, XM_006714539.4:c.961T>A, XM_006714539.3:c.961T>A, XM_006714539.2:c.961T>A, XM_006714539.1:c.961T>A, NM_173514.4:c.961T>A, NM_173514.3:c.961T>A, XM_017009078.3:c.790T>A, XM_017009078.2:c.790T>A, XM_017009078.1:c.790T>A, XM_011543174.2:c.961T>A, XM_011543174.1:c.961T>A, XM_011543176.2:c.961T>A, XM_011543176.1:c.961T>A, XM_011543178.2:c.790T>A, XM_011543178.1:c.790T>A, XM_017009080.2:c.766T>A, XM_017009080.1:c.766T>A, XM_017009077.2:c.961T>A, XM_017009077.1:c.961T>A, XM_011543183.2:c.595T>A, XM_011543183.1:c.595T>A, XM_017009081.2:c.766T>A, XM_017009081.1:c.766T>A, XM_047416778.1:c.961T>A, NM_001349382.1:c.961T>A, NM_001349383.1:c.961T>A, XM_047416780.1:c.961T>A, NM_001258286.1:c.772T>A, NR_047649.1:n.1312T>A, NM_001349384.1:c.961T>A, XM_047416784.1:c.790T>A, XM_047416787.1:c.766T>A, XM_047416788.1:c.766T>A, XM_047416779.1:c.961T>A, XM_047416790.1:c.790T>A, XM_047416786.1:c.790T>A, XM_047416793.1:c.766T>A, NR_146165.1:n.1162T>A, XM_047416785.1:c.790T>A, NR_047650.1:n.1029T>A, NM_001282429.1:c.589T>A, XM_047416791.1:c.790T>A, NM_001349385.1:c.766T>A, XM_047416797.1:c.595T>A, XM_047416789.1:c.790T>A, XM_047416796.1:c.595T>A, XR_007058582.1:n.1162T>A, XM_047416798.1:c.961T>A, XR_007058583.1:n.1162T>A, XP_006714602.1:p.Ser321Thr, NP_775785.2:p.Ser321Thr, XP_016864567.1:p.Ser264Thr, XP_011541476.1:p.Ser321Thr, XP_011541478.1:p.Ser321Thr, XP_011541480.1:p.Ser264Thr, XP_016864569.1:p.Ser256Thr, XP_016864566.1:p.Ser321Thr, XP_011541485.1:p.Ser199Thr, XP_016864570.1:p.Ser256Thr, XP_047272734.1:p.Ser321Thr, NP_001336311.1:p.Ser321Thr, NP_001336312.1:p.Ser321Thr, XP_047272736.1:p.Ser321Thr, NP_001245215.1:p.Ser258Thr, NP_001336313.1:p.Ser321Thr, XP_047272740.1:p.Ser264Thr, XP_047272743.1:p.Ser256Thr, XP_047272744.1:p.Ser256Thr, XP_047272735.1:p.Ser321Thr, XP_047272746.1:p.Ser264Thr, XP_047272742.1:p.Ser264Thr, XP_047272749.1:p.Ser256Thr, XP_047272741.1:p.Ser264Thr, NP_001269358.1:p.Ser197Thr, XP_047272747.1:p.Ser264Thr, NP_001336314.1:p.Ser256Thr, XP_047272753.1:p.Ser199Thr, XP_047272745.1:p.Ser264Thr, XP_047272752.1:p.Ser199Thr, XP_047272754.1:p.Ser321Thr

                8.

                rs1485283533 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:55711457 (GRCh38)
                  5:55007285 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:55711456:G:A
                  Gene:
                  SLC38A9 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000005.10:g.55711457G>A, NC_000005.9:g.55007285G>A, XM_006714539.4:c.-196C>T, XM_006714539.3:c.-196C>T, XM_006714539.2:c.-196C>T, XM_006714539.1:c.-196C>T, NM_173514.4:c.-40C>T, NM_173514.3:c.-40C>T, XM_017009078.3:c.-40C>T, XM_017009078.2:c.-40C>T, XM_017009078.1:c.-40C>T, XM_011543174.2:c.-404C>T, XM_011543174.1:c.-404C>T, XM_011543176.2:c.-309C>T, XM_011543176.1:c.-309C>T, XM_011543177.2:c.-309C>T, XM_011543177.1:c.-309C>T, XM_011543178.2:c.-309C>T, XM_011543178.1:c.-309C>T, XM_011543180.2:c.-309C>T, XM_011543180.1:c.-309C>T, XM_017009080.2:c.-153C>T, XM_017009080.1:c.-153C>T, XM_017009077.2:c.-40C>T, XM_017009077.1:c.-40C>T, XM_011543183.2:c.-309C>T, XM_011543183.1:c.-309C>T, XM_024454369.2:c.-40C>T, XM_024454369.1:c.-40C>T, XM_017009081.2:c.-40C>T, XM_017009081.1:c.-40C>T, XM_017009082.2:c.-40C>T, XM_017009082.1:c.-40C>T, XM_047416778.1:c.-407C>T, NM_001349382.1:c.-309C>T, NM_001349383.1:c.-306C>T, XM_047416780.1:c.-306C>T, XM_047416781.1:c.-306C>T, NM_001349384.1:c.-153C>T, XM_047416784.1:c.-306C>T, XM_047416787.1:c.-309C>T, XM_047416788.1:c.-306C>T, XM_047416783.1:c.-196C>T, XM_047416779.1:c.-153C>T, XM_047416790.1:c.-306C>T, XM_047416782.1:c.-153C>T, XM_047416792.1:c.-309C>T, XM_047416786.1:c.-196C>T, XM_047416793.1:c.-309C>T, XM_047416795.1:c.-306C>T, NR_146165.1:n.162C>T, XM_047416785.1:c.-153C>T, NR_047650.1:n.162C>T, NM_001282429.1:c.-279C>T, XM_047416791.1:c.-153C>T, XM_047416794.1:c.-153C>T, NM_001349385.1:c.-40C>T, XM_047416797.1:c.-153C>T, XM_047416789.1:c.-40C>T, XM_047416796.1:c.-40C>T, XM_047416799.1:c.-40C>T, XR_007058582.1:n.162C>T, XM_047416798.1:c.-309C>T, XR_007058583.1:n.162C>T

                  9.

                  rs1484659054 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    5:55626322 (GRCh38)
                    5:54922150 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:55626321:C:G
                    Gene:
                    SLC38A9 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000005.10:g.55626322C>G, NC_000005.9:g.54922150C>G, XM_006714539.4:c.*172G>C, XM_006714539.3:c.*172G>C, XM_006714539.2:c.*172G>C, XM_006714539.1:c.*172G>C, NM_173514.4:c.*172G>C, NM_173514.3:c.*172G>C, XM_017009078.3:c.*172G>C, XM_017009078.2:c.*172G>C, XM_017009078.1:c.*172G>C, XM_011543174.2:c.*172G>C, XM_011543174.1:c.*172G>C, XM_011543176.2:c.*172G>C, XM_011543176.1:c.*172G>C, XM_011543177.2:c.*172G>C, XM_011543177.1:c.*172G>C, XM_011543178.2:c.*172G>C, XM_011543178.1:c.*172G>C, XM_011543180.2:c.*172G>C, XM_011543180.1:c.*172G>C, XM_017009080.2:c.*172G>C, XM_017009080.1:c.*172G>C, XM_017009077.2:c.*172G>C, XM_017009077.1:c.*172G>C, XM_011543183.2:c.*172G>C, XM_011543183.1:c.*172G>C, XM_024454369.2:c.*172G>C, XM_024454369.1:c.*172G>C, XM_017009081.2:c.*172G>C, XM_017009081.1:c.*172G>C, XM_017009082.2:c.*172G>C, XM_017009082.1:c.*172G>C, XM_047416778.1:c.*172G>C, NM_001349382.1:c.*172G>C, NM_001349383.1:c.*172G>C, XM_047416780.1:c.*172G>C, XM_047416781.1:c.*172G>C, NM_001258286.1:c.*172G>C, NM_001258287.1:c.*172G>C, NR_047649.1:n.2174G>C, NM_001349384.1:c.*172G>C, XM_047416784.1:c.*172G>C, XM_047416787.1:c.*172G>C, XM_047416788.1:c.*172G>C, XM_047416783.1:c.*172G>C, XM_047416779.1:c.*172G>C, XM_047416790.1:c.*172G>C, XM_047416782.1:c.*172G>C, XM_047416792.1:c.*172G>C, XM_047416786.1:c.*172G>C, XM_047416793.1:c.*172G>C, XM_047416795.1:c.*172G>C, NR_146165.1:n.2009G>C, XM_047416785.1:c.*172G>C, NR_047650.1:n.1926G>C, NM_001282429.1:c.*172G>C, XM_047416791.1:c.*172G>C, XM_047416794.1:c.*172G>C, NM_001349385.1:c.*172G>C, XM_047416797.1:c.*172G>C, XM_047416789.1:c.*172G>C, XM_047416796.1:c.*172G>C, XM_047416799.1:c.*172G>C

                    10.

                    rs1484289111 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      T>C
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1484216229 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:55672590 (GRCh38)
                        5:54968418 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:55672589:C:T
                        Gene:
                        SLC38A9 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.00005/1 (ALFA)
                        HGVS:
                        NC_000005.10:g.55672590C>T, NC_000005.9:g.54968418C>T, XM_006714539.4:c.219G>A, XM_006714539.3:c.219G>A, XM_006714539.2:c.219G>A, XM_006714539.1:c.219G>A, NM_173514.4:c.219G>A, NM_173514.3:c.219G>A, XM_017009078.3:c.219G>A, XM_017009078.2:c.219G>A, XM_017009078.1:c.219G>A, XM_011543174.2:c.219G>A, XM_011543174.1:c.219G>A, XM_011543176.2:c.219G>A, XM_011543176.1:c.219G>A, XM_011543177.2:c.219G>A, XM_011543177.1:c.219G>A, XM_011543178.2:c.219G>A, XM_011543178.1:c.219G>A, XM_011543180.2:c.219G>A, XM_011543180.1:c.219G>A, XM_017009080.2:c.219G>A, XM_017009080.1:c.219G>A, XM_017009077.2:c.219G>A, XM_017009077.1:c.219G>A, XM_011543183.2:c.219G>A, XM_011543183.1:c.219G>A, XM_024454369.2:c.219G>A, XM_024454369.1:c.219G>A, XM_017009081.2:c.219G>A, XM_017009081.1:c.219G>A, XM_017009082.2:c.219G>A, XM_017009082.1:c.219G>A, XM_047416778.1:c.219G>A, NM_001349382.1:c.219G>A, NM_001349383.1:c.219G>A, XM_047416780.1:c.219G>A, XM_047416781.1:c.219G>A, NM_001258286.1:c.30G>A, NM_001258287.1:c.138G>A, NR_047649.1:n.570G>A, NM_001349384.1:c.219G>A, XM_047416784.1:c.219G>A, XM_047416787.1:c.219G>A, XM_047416788.1:c.219G>A, XM_047416783.1:c.219G>A, XM_047416779.1:c.219G>A, XM_047416790.1:c.219G>A, XM_047416782.1:c.219G>A, XM_047416792.1:c.219G>A, XM_047416786.1:c.219G>A, XM_047416793.1:c.219G>A, XM_047416795.1:c.219G>A, NR_146165.1:n.420G>A, XM_047416785.1:c.219G>A, XM_047416791.1:c.219G>A, XM_047416794.1:c.219G>A, NM_001349385.1:c.219G>A, XM_047416797.1:c.219G>A, XM_047416789.1:c.219G>A, XM_047416796.1:c.219G>A, XM_047416799.1:c.219G>A, XR_007058582.1:n.420G>A, XM_047416798.1:c.219G>A, XR_007058583.1:n.420G>A

                        12.

                        rs1483098162 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:55626577 (GRCh38)
                          5:54922405 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:55626576:G:A
                          Gene:
                          SLC38A9 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (GnomAD_exomes)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000005.10:g.55626577G>A, NC_000005.9:g.54922405G>A, XM_006714539.4:c.1603C>T, XM_006714539.3:c.1603C>T, XM_006714539.2:c.1603C>T, XM_006714539.1:c.1603C>T, NM_173514.4:c.1603C>T, NM_173514.3:c.1603C>T, XM_017009078.3:c.1432C>T, XM_017009078.2:c.1432C>T, XM_017009078.1:c.1432C>T, XM_011543174.2:c.1603C>T, XM_011543174.1:c.1603C>T, XM_011543176.2:c.1513C>T, XM_011543176.1:c.1513C>T, XM_011543177.2:c.1495C>T, XM_011543177.1:c.1495C>T, XM_011543178.2:c.1432C>T, XM_011543178.1:c.1432C>T, XM_011543180.2:c.1300C>T, XM_011543180.1:c.1300C>T, XM_017009080.2:c.1408C>T, XM_017009080.1:c.1408C>T, XM_017009077.2:c.1513C>T, XM_017009077.1:c.1513C>T, XM_011543183.2:c.1237C>T, XM_011543183.1:c.1237C>T, XM_024454369.2:c.1495C>T, XM_024454369.1:c.1495C>T, XM_017009081.2:c.1318C>T, XM_017009081.1:c.1318C>T, XM_017009082.2:c.1300C>T, XM_017009082.1:c.1300C>T, XM_047416778.1:c.1603C>T, NM_001349382.1:c.1603C>T, NM_001349383.1:c.1603C>T, XM_047416780.1:c.1513C>T, XM_047416781.1:c.1495C>T, NM_001258286.1:c.1414C>T, NM_001258287.1:c.1414C>T, NR_047649.1:n.1919C>T, NM_001349384.1:c.1603C>T, XM_047416784.1:c.1432C>T, XM_047416787.1:c.1408C>T, XM_047416788.1:c.1408C>T, XM_047416783.1:c.1495C>T, XM_047416779.1:c.1513C>T, XM_047416790.1:c.1342C>T, XM_047416782.1:c.1495C>T, XM_047416792.1:c.1324C>T, XM_047416786.1:c.1432C>T, XM_047416793.1:c.1318C>T, XM_047416795.1:c.1300C>T, NR_146165.1:n.1754C>T, XM_047416785.1:c.1432C>T, NR_047650.1:n.1671C>T, NM_001282429.1:c.1231C>T, XM_047416791.1:c.1342C>T, XM_047416794.1:c.1300C>T, NM_001349385.1:c.1408C>T, XM_047416797.1:c.1237C>T, XM_047416789.1:c.1342C>T, XM_047416796.1:c.1237C>T, XM_047416799.1:c.1129C>T, XP_006714602.1:p.Arg535Cys, NP_775785.2:p.Arg535Cys, XP_016864567.1:p.Arg478Cys, XP_011541476.1:p.Arg535Cys, XP_011541478.1:p.Arg505Cys, XP_011541479.1:p.Arg499Cys, XP_011541480.1:p.Arg478Cys, XP_011541482.1:p.Arg434Cys, XP_016864569.1:p.Arg470Cys, XP_016864566.1:p.Arg505Cys, XP_011541485.1:p.Arg413Cys, XP_024310137.1:p.Arg499Cys, XP_016864570.1:p.Arg440Cys, XP_016864571.1:p.Arg434Cys, XP_047272734.1:p.Arg535Cys, NP_001336311.1:p.Arg535Cys, NP_001336312.1:p.Arg535Cys, XP_047272736.1:p.Arg505Cys, XP_047272737.1:p.Arg499Cys, NP_001245215.1:p.Arg472Cys, NP_001245216.1:p.Arg472Cys, NP_001336313.1:p.Arg535Cys, XP_047272740.1:p.Arg478Cys, XP_047272743.1:p.Arg470Cys, XP_047272744.1:p.Arg470Cys, XP_047272739.1:p.Arg499Cys, XP_047272735.1:p.Arg505Cys, XP_047272746.1:p.Arg448Cys, XP_047272738.1:p.Arg499Cys, XP_047272748.1:p.Arg442Cys, XP_047272742.1:p.Arg478Cys, XP_047272749.1:p.Arg440Cys, XP_047272751.1:p.Arg434Cys, XP_047272741.1:p.Arg478Cys, NP_001269358.1:p.Arg411Cys, XP_047272747.1:p.Arg448Cys, XP_047272750.1:p.Arg434Cys, NP_001336314.1:p.Arg470Cys, XP_047272753.1:p.Arg413Cys, XP_047272745.1:p.Arg448Cys, XP_047272752.1:p.Arg413Cys, XP_047272755.1:p.Arg377Cys

                          13.

                          rs1483020460 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            5:55627897 (GRCh38)
                            5:54923725 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:55627896:AT:
                            Gene:
                            SLC38A9 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:
                            NC_000005.10:g.55627897_55627898del, NC_000005.9:g.54923725_54923726del, XM_006714539.4:c.1513_1514del, XM_006714539.3:c.1513_1514del, XM_006714539.2:c.1513_1514del, XM_006714539.1:c.1513_1514del, NM_173514.4:c.1513_1514del, NM_173514.3:c.1513_1514del, XM_017009078.3:c.1342_1343del, XM_017009078.2:c.1342_1343del, XM_017009078.1:c.1342_1343del, XM_011543174.2:c.1513_1514del, XM_011543174.1:c.1513_1514del, XM_011543177.2:c.1405_1406del, XM_011543177.1:c.1405_1406del, XM_011543178.2:c.1342_1343del, XM_011543178.1:c.1342_1343del, XM_011543180.2:c.1210_1211del, XM_011543180.1:c.1210_1211del, XM_017009080.2:c.1318_1319del, XM_017009080.1:c.1318_1319del, XM_011543183.2:c.1147_1148del, XM_011543183.1:c.1147_1148del, XM_024454369.2:c.1405_1406del, XM_024454369.1:c.1405_1406del, XM_017009082.2:c.1210_1211del, XM_017009082.1:c.1210_1211del, XM_047416778.1:c.1513_1514del, NM_001349382.1:c.1513_1514del, NM_001349383.1:c.1513_1514del, XM_047416781.1:c.1405_1406del, NM_001258286.1:c.1324_1325del, NM_001258287.1:c.1324_1325del, NR_047649.1:n.1829_1830del, NM_001349384.1:c.1513_1514del, XM_047416784.1:c.1342_1343del, XM_047416787.1:c.1318_1319del, XM_047416788.1:c.1318_1319del, XM_047416783.1:c.1405_1406del, XM_047416782.1:c.1405_1406del, XM_047416792.1:c.1234_1235del, XM_047416786.1:c.1342_1343del, XM_047416795.1:c.1210_1211del, NR_146165.1:n.1664_1665del, XM_047416785.1:c.1342_1343del, NR_047650.1:n.1581_1582del, NM_001282429.1:c.1141_1142del, XM_047416794.1:c.1210_1211del, NM_001349385.1:c.1318_1319del, XM_047416797.1:c.1147_1148del, XM_047416796.1:c.1147_1148del, XM_047416799.1:c.1039_1040del, XR_007058583.1:n.1723_1724del, XP_006714602.1:p.Ile505fs, NP_775785.2:p.Ile505fs, XP_016864567.1:p.Ile448fs, XP_011541476.1:p.Ile505fs, XP_011541479.1:p.Ile469fs, XP_011541480.1:p.Ile448fs, XP_011541482.1:p.Ile404fs, XP_016864569.1:p.Ile440fs, XP_011541485.1:p.Ile383fs, XP_024310137.1:p.Ile469fs, XP_016864571.1:p.Ile404fs, XP_047272734.1:p.Ile505fs, NP_001336311.1:p.Ile505fs, NP_001336312.1:p.Ile505fs, XP_047272737.1:p.Ile469fs, NP_001245215.1:p.Ile442fs, NP_001245216.1:p.Ile442fs, NP_001336313.1:p.Ile505fs, XP_047272740.1:p.Ile448fs, XP_047272743.1:p.Ile440fs, XP_047272744.1:p.Ile440fs, XP_047272739.1:p.Ile469fs, XP_047272738.1:p.Ile469fs, XP_047272748.1:p.Ile412fs, XP_047272742.1:p.Ile448fs, XP_047272751.1:p.Ile404fs, XP_047272741.1:p.Ile448fs, NP_001269358.1:p.Ile381fs, XP_047272750.1:p.Ile404fs, NP_001336314.1:p.Ile440fs, XP_047272753.1:p.Ile383fs, XP_047272752.1:p.Ile383fs, XP_047272755.1:p.Ile347fs

                            14.

                            rs1482948774 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GT [Show Flanks]
                              Chromosome:
                              5:55697989 (GRCh38)
                              5:54993818 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:55697989:GT:GTGT
                              Gene:
                              SLC38A9 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GTGT=0./0 (ALFA)
                              GT=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.55697990_55697991dup, NC_000005.9:g.54993818_54993819dup, XM_006714539.4:c.-33_-32dup, XM_006714539.3:c.-33_-32dup, XM_006714539.2:c.-33_-32dup, XM_006714539.1:c.-33_-32dup, NM_173514.4:c.-33_-32dup, NM_173514.3:c.-33_-32dup, XM_017009078.3:c.-33_-32dup, XM_017009078.2:c.-33_-32dup, XM_017009078.1:c.-33_-32dup, XM_011543174.2:c.-33_-32dup, XM_011543174.1:c.-33_-32dup, XM_011543176.2:c.-33_-32dup, XM_011543176.1:c.-33_-32dup, XM_011543177.2:c.-33_-32dup, XM_011543177.1:c.-33_-32dup, XM_011543178.2:c.-33_-32dup, XM_011543178.1:c.-33_-32dup, XM_011543180.2:c.-33_-32dup, XM_011543180.1:c.-33_-32dup, XM_017009080.2:c.-33_-32dup, XM_017009080.1:c.-33_-32dup, XM_017009077.2:c.-33_-32dup, XM_017009077.1:c.-33_-32dup, XM_011543183.2:c.-33_-32dup, XM_011543183.1:c.-33_-32dup, XM_024454369.2:c.-33_-32dup, XM_024454369.1:c.-33_-32dup, XM_017009081.2:c.-33_-32dup, XM_017009081.1:c.-33_-32dup, XM_017009082.2:c.-33_-32dup, XM_017009082.1:c.-33_-32dup, XM_047416778.1:c.-33_-32dup, NM_001349382.1:c.-33_-32dup, NM_001349383.1:c.-33_-32dup, XM_047416780.1:c.-33_-32dup, XM_047416781.1:c.-33_-32dup, NM_001349384.1:c.-33_-32dup, XM_047416784.1:c.-33_-32dup, XM_047416787.1:c.-33_-32dup, XM_047416788.1:c.-33_-32dup, XM_047416783.1:c.-33_-32dup, XM_047416779.1:c.-33_-32dup, XM_047416790.1:c.-33_-32dup, XM_047416782.1:c.-33_-32dup, XM_047416792.1:c.-33_-32dup, XM_047416786.1:c.-33_-32dup, XM_047416793.1:c.-33_-32dup, XM_047416795.1:c.-33_-32dup, NR_146165.1:n.169_170dup, XM_047416785.1:c.-33_-32dup, NR_047650.1:n.169_170dup, NM_001282429.1:c.-272_-271dup, XM_047416791.1:c.-33_-32dup, XM_047416794.1:c.-33_-32dup, NM_001349385.1:c.-33_-32dup, XM_047416797.1:c.-33_-32dup, XM_047416789.1:c.-33_-32dup, XM_047416796.1:c.-33_-32dup, XM_047416799.1:c.-33_-32dup, XR_007058582.1:n.169_170dup, XM_047416798.1:c.-33_-32dup, XR_007058583.1:n.169_170dup

                              15.

                              rs1481696623 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                5:55702831 (GRCh38)
                                5:54998659 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:55702830:C:T
                                Gene:
                                SLC38A9 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000066/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000223/1 (Estonian)
                                HGVS:
                                NC_000005.10:g.55702831C>T, NC_000005.9:g.54998659C>T, XM_006714539.4:c.-127G>A, XM_006714539.3:c.-127G>A, XM_006714539.2:c.-127G>A, XM_006714539.1:c.-127G>A, XM_011543174.2:c.-127G>A, XM_011543174.1:c.-127G>A, XM_011543176.2:c.-127G>A, XM_011543176.1:c.-127G>A, XM_011543177.2:c.-127G>A, XM_011543177.1:c.-127G>A, XM_011543178.2:c.-127G>A, XM_011543178.1:c.-127G>A, XM_011543180.2:c.-127G>A, XM_011543180.1:c.-127G>A, XM_011543183.2:c.-127G>A, XM_011543183.1:c.-127G>A, XM_047416778.1:c.-127G>A, NM_001349382.1:c.-127G>A, NM_001349383.1:c.-127G>A, XM_047416780.1:c.-127G>A, XM_047416781.1:c.-127G>A, XM_047416784.1:c.-127G>A, XM_047416787.1:c.-127G>A, XM_047416788.1:c.-127G>A, XM_047416783.1:c.-127G>A, XM_047416790.1:c.-127G>A, XM_047416792.1:c.-127G>A, XM_047416786.1:c.-127G>A, XM_047416793.1:c.-127G>A, XM_047416795.1:c.-127G>A, XM_047416798.1:c.-127G>A

                                16.

                                rs1478522462 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  5:55664822 (GRCh38)
                                  5:54960650 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:55664821:T:A
                                  Gene:
                                  SLC38A9 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.00005/1 (ALFA)
                                  HGVS:
                                  NC_000005.10:g.55664822T>A, NC_000005.9:g.54960650T>A, XM_006714539.4:c.568A>T, XM_006714539.3:c.568A>T, XM_006714539.2:c.568A>T, XM_006714539.1:c.568A>T, NM_173514.4:c.568A>T, NM_173514.3:c.568A>T, XM_011543174.2:c.568A>T, XM_011543174.1:c.568A>T, XM_011543176.2:c.568A>T, XM_011543176.1:c.568A>T, XM_011543177.2:c.568A>T, XM_011543177.1:c.568A>T, XM_011543180.2:c.568A>T, XM_011543180.1:c.568A>T, XM_017009080.2:c.568A>T, XM_017009080.1:c.568A>T, XM_017009077.2:c.568A>T, XM_017009077.1:c.568A>T, XM_024454369.2:c.568A>T, XM_024454369.1:c.568A>T, XM_017009081.2:c.568A>T, XM_017009081.1:c.568A>T, XM_017009082.2:c.568A>T, XM_017009082.1:c.568A>T, XM_047416778.1:c.568A>T, NM_001349382.1:c.568A>T, NM_001349383.1:c.568A>T, XM_047416780.1:c.568A>T, XM_047416781.1:c.568A>T, NM_001258286.1:c.379A>T, NM_001258287.1:c.487A>T, NR_047649.1:n.919A>T, NM_001349384.1:c.568A>T, XM_047416787.1:c.568A>T, XM_047416788.1:c.568A>T, XM_047416783.1:c.568A>T, XM_047416779.1:c.568A>T, XM_047416782.1:c.568A>T, XM_047416793.1:c.568A>T, XM_047416795.1:c.568A>T, NR_146165.1:n.769A>T, NR_047650.1:n.636A>T, NM_001282429.1:c.196A>T, XM_047416794.1:c.568A>T, NM_001349385.1:c.568A>T, XR_007058582.1:n.769A>T, XM_047416798.1:c.568A>T, XR_007058583.1:n.769A>T, XP_006714602.1:p.Arg190Ter, NP_775785.2:p.Arg190Ter, XP_011541476.1:p.Arg190Ter, XP_011541478.1:p.Arg190Ter, XP_011541479.1:p.Arg190Ter, XP_011541482.1:p.Arg190Ter, XP_016864569.1:p.Arg190Ter, XP_016864566.1:p.Arg190Ter, XP_024310137.1:p.Arg190Ter, XP_016864570.1:p.Arg190Ter, XP_016864571.1:p.Arg190Ter, XP_047272734.1:p.Arg190Ter, NP_001336311.1:p.Arg190Ter, NP_001336312.1:p.Arg190Ter, XP_047272736.1:p.Arg190Ter, XP_047272737.1:p.Arg190Ter, NP_001245215.1:p.Arg127Ter, NP_001245216.1:p.Arg163Ter, NP_001336313.1:p.Arg190Ter, XP_047272743.1:p.Arg190Ter, XP_047272744.1:p.Arg190Ter, XP_047272739.1:p.Arg190Ter, XP_047272735.1:p.Arg190Ter, XP_047272738.1:p.Arg190Ter, XP_047272749.1:p.Arg190Ter, XP_047272751.1:p.Arg190Ter, NP_001269358.1:p.Arg66Ter, XP_047272750.1:p.Arg190Ter, NP_001336314.1:p.Arg190Ter, XP_047272754.1:p.Arg190Ter

                                  17.

                                  rs1475761093 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    5:55652608 (GRCh38)
                                    5:54948436 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:55652607:G:A,NC_000005.10:55652607:G:C
                                    Gene:
                                    SLC38A9 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000111/1 (ALFA)
                                    A=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.55652608G>A, NC_000005.10:g.55652608G>C, NC_000005.9:g.54948436G>A, NC_000005.9:g.54948436G>C, XM_006714539.4:c.873C>T, XM_006714539.4:c.873C>G, XM_006714539.3:c.873C>T, XM_006714539.3:c.873C>G, XM_006714539.2:c.873C>T, XM_006714539.2:c.873C>G, XM_006714539.1:c.873C>T, XM_006714539.1:c.873C>G, NM_173514.4:c.873C>T, NM_173514.4:c.873C>G, NM_173514.3:c.873C>T, NM_173514.3:c.873C>G, XM_017009078.3:c.702C>T, XM_017009078.3:c.702C>G, XM_017009078.2:c.702C>T, XM_017009078.2:c.702C>G, XM_017009078.1:c.702C>T, XM_017009078.1:c.702C>G, XM_011543174.2:c.873C>T, XM_011543174.2:c.873C>G, XM_011543174.1:c.873C>T, XM_011543174.1:c.873C>G, XM_011543176.2:c.873C>T, XM_011543176.2:c.873C>G, XM_011543176.1:c.873C>T, XM_011543176.1:c.873C>G, XM_011543177.2:c.873C>T, XM_011543177.2:c.873C>G, XM_011543177.1:c.873C>T, XM_011543177.1:c.873C>G, XM_011543178.2:c.702C>T, XM_011543178.2:c.702C>G, XM_011543178.1:c.702C>T, XM_011543178.1:c.702C>G, XM_017009077.2:c.873C>T, XM_017009077.2:c.873C>G, XM_017009077.1:c.873C>T, XM_017009077.1:c.873C>G, XM_024454369.2:c.873C>T, XM_024454369.2:c.873C>G, XM_024454369.1:c.873C>T, XM_024454369.1:c.873C>G, XM_047416778.1:c.873C>T, XM_047416778.1:c.873C>G, NM_001349382.1:c.873C>T, NM_001349382.1:c.873C>G, NM_001349383.1:c.873C>T, NM_001349383.1:c.873C>G, XM_047416780.1:c.873C>T, XM_047416780.1:c.873C>G, XM_047416781.1:c.873C>T, XM_047416781.1:c.873C>G, NM_001258286.1:c.684C>T, NM_001258286.1:c.684C>G, NM_001258287.1:c.792C>T, NM_001258287.1:c.792C>G, NR_047649.1:n.1224C>T, NR_047649.1:n.1224C>G, NM_001349384.1:c.873C>T, NM_001349384.1:c.873C>G, XM_047416784.1:c.702C>T, XM_047416784.1:c.702C>G, XM_047416783.1:c.873C>T, XM_047416783.1:c.873C>G, XM_047416779.1:c.873C>T, XM_047416779.1:c.873C>G, XM_047416790.1:c.702C>T, XM_047416790.1:c.702C>G, XM_047416782.1:c.873C>T, XM_047416782.1:c.873C>G, XM_047416792.1:c.702C>T, XM_047416792.1:c.702C>G, XM_047416786.1:c.702C>T, XM_047416786.1:c.702C>G, NR_146165.1:n.1074C>T, NR_146165.1:n.1074C>G, XM_047416785.1:c.702C>T, XM_047416785.1:c.702C>G, NR_047650.1:n.941C>T, NR_047650.1:n.941C>G, NM_001282429.1:c.501C>T, NM_001282429.1:c.501C>G, XM_047416791.1:c.702C>T, XM_047416791.1:c.702C>G, XM_047416789.1:c.702C>T, XM_047416789.1:c.702C>G, XR_007058582.1:n.1074C>T, XR_007058582.1:n.1074C>G, XM_047416798.1:c.873C>T, XM_047416798.1:c.873C>G, XR_007058583.1:n.1074C>T, XR_007058583.1:n.1074C>G

                                    18.

                                    rs1472872565 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      5:55626607 (GRCh38)
                                      5:54922435 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:55626606:T:A
                                      Gene:
                                      SLC38A9 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000005.10:g.55626607T>A, NC_000005.9:g.54922435T>A, XM_006714539.4:c.1573A>T, XM_006714539.3:c.1573A>T, XM_006714539.2:c.1573A>T, XM_006714539.1:c.1573A>T, NM_173514.4:c.1573A>T, NM_173514.3:c.1573A>T, XM_017009078.3:c.1402A>T, XM_017009078.2:c.1402A>T, XM_017009078.1:c.1402A>T, XM_011543174.2:c.1573A>T, XM_011543174.1:c.1573A>T, XM_011543176.2:c.1483A>T, XM_011543176.1:c.1483A>T, XM_011543177.2:c.1465A>T, XM_011543177.1:c.1465A>T, XM_011543178.2:c.1402A>T, XM_011543178.1:c.1402A>T, XM_011543180.2:c.1270A>T, XM_011543180.1:c.1270A>T, XM_017009080.2:c.1378A>T, XM_017009080.1:c.1378A>T, XM_017009077.2:c.1483A>T, XM_017009077.1:c.1483A>T, XM_011543183.2:c.1207A>T, XM_011543183.1:c.1207A>T, XM_024454369.2:c.1465A>T, XM_024454369.1:c.1465A>T, XM_017009081.2:c.1288A>T, XM_017009081.1:c.1288A>T, XM_017009082.2:c.1270A>T, XM_017009082.1:c.1270A>T, XM_047416778.1:c.1573A>T, NM_001349382.1:c.1573A>T, NM_001349383.1:c.1573A>T, XM_047416780.1:c.1483A>T, XM_047416781.1:c.1465A>T, NM_001258286.1:c.1384A>T, NM_001258287.1:c.1384A>T, NR_047649.1:n.1889A>T, NM_001349384.1:c.1573A>T, XM_047416784.1:c.1402A>T, XM_047416787.1:c.1378A>T, XM_047416788.1:c.1378A>T, XM_047416783.1:c.1465A>T, XM_047416779.1:c.1483A>T, XM_047416790.1:c.1312A>T, XM_047416782.1:c.1465A>T, XM_047416792.1:c.1294A>T, XM_047416786.1:c.1402A>T, XM_047416793.1:c.1288A>T, XM_047416795.1:c.1270A>T, NR_146165.1:n.1724A>T, XM_047416785.1:c.1402A>T, NR_047650.1:n.1641A>T, NM_001282429.1:c.1201A>T, XM_047416791.1:c.1312A>T, XM_047416794.1:c.1270A>T, NM_001349385.1:c.1378A>T, XM_047416797.1:c.1207A>T, XM_047416789.1:c.1312A>T, XM_047416796.1:c.1207A>T, XM_047416799.1:c.1099A>T, XP_006714602.1:p.Ile525Phe, NP_775785.2:p.Ile525Phe, XP_016864567.1:p.Ile468Phe, XP_011541476.1:p.Ile525Phe, XP_011541478.1:p.Ile495Phe, XP_011541479.1:p.Ile489Phe, XP_011541480.1:p.Ile468Phe, XP_011541482.1:p.Ile424Phe, XP_016864569.1:p.Ile460Phe, XP_016864566.1:p.Ile495Phe, XP_011541485.1:p.Ile403Phe, XP_024310137.1:p.Ile489Phe, XP_016864570.1:p.Ile430Phe, XP_016864571.1:p.Ile424Phe, XP_047272734.1:p.Ile525Phe, NP_001336311.1:p.Ile525Phe, NP_001336312.1:p.Ile525Phe, XP_047272736.1:p.Ile495Phe, XP_047272737.1:p.Ile489Phe, NP_001245215.1:p.Ile462Phe, NP_001245216.1:p.Ile462Phe, NP_001336313.1:p.Ile525Phe, XP_047272740.1:p.Ile468Phe, XP_047272743.1:p.Ile460Phe, XP_047272744.1:p.Ile460Phe, XP_047272739.1:p.Ile489Phe, XP_047272735.1:p.Ile495Phe, XP_047272746.1:p.Ile438Phe, XP_047272738.1:p.Ile489Phe, XP_047272748.1:p.Ile432Phe, XP_047272742.1:p.Ile468Phe, XP_047272749.1:p.Ile430Phe, XP_047272751.1:p.Ile424Phe, XP_047272741.1:p.Ile468Phe, NP_001269358.1:p.Ile401Phe, XP_047272747.1:p.Ile438Phe, XP_047272750.1:p.Ile424Phe, NP_001336314.1:p.Ile460Phe, XP_047272753.1:p.Ile403Phe, XP_047272745.1:p.Ile438Phe, XP_047272752.1:p.Ile403Phe, XP_047272755.1:p.Ile367Phe

                                      19.

                                      rs1470968943 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:55669310 (GRCh38)
                                        5:54965138 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:55669309:A:G
                                        Gene:
                                        SLC38A9 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.55669310A>G, NC_000005.9:g.54965138A>G, XM_006714539.4:c.444T>C, XM_006714539.3:c.444T>C, XM_006714539.2:c.444T>C, XM_006714539.1:c.444T>C, NM_173514.4:c.444T>C, NM_173514.3:c.444T>C, XM_017009078.3:c.444T>C, XM_017009078.2:c.444T>C, XM_017009078.1:c.444T>C, XM_011543174.2:c.444T>C, XM_011543174.1:c.444T>C, XM_011543176.2:c.444T>C, XM_011543176.1:c.444T>C, XM_011543177.2:c.444T>C, XM_011543177.1:c.444T>C, XM_011543178.2:c.444T>C, XM_011543178.1:c.444T>C, XM_011543180.2:c.444T>C, XM_011543180.1:c.444T>C, XM_017009080.2:c.444T>C, XM_017009080.1:c.444T>C, XM_017009077.2:c.444T>C, XM_017009077.1:c.444T>C, XM_011543183.2:c.444T>C, XM_011543183.1:c.444T>C, XM_024454369.2:c.444T>C, XM_024454369.1:c.444T>C, XM_017009081.2:c.444T>C, XM_017009081.1:c.444T>C, XM_017009082.2:c.444T>C, XM_017009082.1:c.444T>C, XM_047416778.1:c.444T>C, NM_001349382.1:c.444T>C, NM_001349383.1:c.444T>C, XM_047416780.1:c.444T>C, XM_047416781.1:c.444T>C, NM_001258286.1:c.255T>C, NM_001258287.1:c.363T>C, NR_047649.1:n.795T>C, NM_001349384.1:c.444T>C, XM_047416784.1:c.444T>C, XM_047416787.1:c.444T>C, XM_047416788.1:c.444T>C, XM_047416783.1:c.444T>C, XM_047416779.1:c.444T>C, XM_047416790.1:c.444T>C, XM_047416782.1:c.444T>C, XM_047416792.1:c.444T>C, XM_047416786.1:c.444T>C, XM_047416793.1:c.444T>C, XM_047416795.1:c.444T>C, NR_146165.1:n.645T>C, XM_047416785.1:c.444T>C, NR_047650.1:n.512T>C, NM_001282429.1:c.72T>C, XM_047416791.1:c.444T>C, XM_047416794.1:c.444T>C, NM_001349385.1:c.444T>C, XM_047416797.1:c.444T>C, XM_047416789.1:c.444T>C, XM_047416796.1:c.444T>C, XM_047416799.1:c.444T>C, XR_007058582.1:n.645T>C, XM_047416798.1:c.444T>C, XR_007058583.1:n.645T>C

                                        20.

                                        rs1470062834 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          5:55711479 (GRCh38)
                                          5:55007307 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:55711478:G:A,NC_000005.10:55711478:G:C
                                          Gene:
                                          SLC38A9 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000531/9 (TOMMO)
                                          HGVS:
                                          NC_000005.10:g.55711479G>A, NC_000005.10:g.55711479G>C, NC_000005.9:g.55007307G>A, NC_000005.9:g.55007307G>C, XM_006714539.4:c.-218C>T, XM_006714539.4:c.-218C>G, XM_006714539.3:c.-218C>T, XM_006714539.3:c.-218C>G, XM_006714539.2:c.-218C>T, XM_006714539.2:c.-218C>G, XM_006714539.1:c.-218C>T, XM_006714539.1:c.-218C>G, NM_173514.4:c.-62C>T, NM_173514.4:c.-62C>G, NM_173514.3:c.-62C>T, NM_173514.3:c.-62C>G, XM_017009078.3:c.-62C>T, XM_017009078.3:c.-62C>G, XM_017009078.2:c.-62C>T, XM_017009078.2:c.-62C>G, XM_017009078.1:c.-62C>T, XM_017009078.1:c.-62C>G, XM_011543174.2:c.-426C>T, XM_011543174.2:c.-426C>G, XM_011543174.1:c.-426C>T, XM_011543174.1:c.-426C>G, XM_011543176.2:c.-331C>T, XM_011543176.2:c.-331C>G, XM_011543176.1:c.-331C>T, XM_011543176.1:c.-331C>G, XM_011543177.2:c.-331C>T, XM_011543177.2:c.-331C>G, XM_011543177.1:c.-331C>T, XM_011543177.1:c.-331C>G, XM_011543178.2:c.-331C>T, XM_011543178.2:c.-331C>G, XM_011543178.1:c.-331C>T, XM_011543178.1:c.-331C>G, XM_011543180.2:c.-331C>T, XM_011543180.2:c.-331C>G, XM_011543180.1:c.-331C>T, XM_011543180.1:c.-331C>G, XM_017009080.2:c.-175C>T, XM_017009080.2:c.-175C>G, XM_017009080.1:c.-175C>T, XM_017009080.1:c.-175C>G, XM_017009077.2:c.-62C>T, XM_017009077.2:c.-62C>G, XM_017009077.1:c.-62C>T, XM_017009077.1:c.-62C>G, XM_011543183.2:c.-331C>T, XM_011543183.2:c.-331C>G, XM_011543183.1:c.-331C>T, XM_011543183.1:c.-331C>G, XM_024454369.2:c.-62C>T, XM_024454369.2:c.-62C>G, XM_024454369.1:c.-62C>T, XM_024454369.1:c.-62C>G, XM_017009081.2:c.-62C>T, XM_017009081.2:c.-62C>G, XM_017009081.1:c.-62C>T, XM_017009081.1:c.-62C>G, XM_017009082.2:c.-62C>T, XM_017009082.2:c.-62C>G, XM_017009082.1:c.-62C>T, XM_017009082.1:c.-62C>G, XM_047416778.1:c.-429C>T, XM_047416778.1:c.-429C>G, NM_001349382.1:c.-331C>T, NM_001349382.1:c.-331C>G, NM_001349383.1:c.-328C>T, NM_001349383.1:c.-328C>G, XM_047416780.1:c.-328C>T, XM_047416780.1:c.-328C>G, XM_047416781.1:c.-328C>T, XM_047416781.1:c.-328C>G, NM_001349384.1:c.-175C>T, NM_001349384.1:c.-175C>G, XM_047416784.1:c.-328C>T, XM_047416784.1:c.-328C>G, XM_047416787.1:c.-331C>T, XM_047416787.1:c.-331C>G, XM_047416788.1:c.-328C>T, XM_047416788.1:c.-328C>G, XM_047416783.1:c.-218C>T, XM_047416783.1:c.-218C>G, XM_047416779.1:c.-175C>T, XM_047416779.1:c.-175C>G, XM_047416790.1:c.-328C>T, XM_047416790.1:c.-328C>G, XM_047416782.1:c.-175C>T, XM_047416782.1:c.-175C>G, XM_047416792.1:c.-331C>T, XM_047416792.1:c.-331C>G, XM_047416786.1:c.-218C>T, XM_047416786.1:c.-218C>G, XM_047416793.1:c.-331C>T, XM_047416793.1:c.-331C>G, XM_047416795.1:c.-328C>T, XM_047416795.1:c.-328C>G, NR_146165.1:n.140C>T, NR_146165.1:n.140C>G, XM_047416785.1:c.-175C>T, XM_047416785.1:c.-175C>G, NR_047650.1:n.140C>T, NR_047650.1:n.140C>G, NM_001282429.1:c.-301C>T, NM_001282429.1:c.-301C>G, XM_047416791.1:c.-175C>T, XM_047416791.1:c.-175C>G, XM_047416794.1:c.-175C>T, XM_047416794.1:c.-175C>G, NM_001349385.1:c.-62C>T, NM_001349385.1:c.-62C>G, XM_047416797.1:c.-175C>T, XM_047416797.1:c.-175C>G, XM_047416789.1:c.-62C>T, XM_047416789.1:c.-62C>G, XM_047416796.1:c.-62C>T, XM_047416796.1:c.-62C>G, XM_047416799.1:c.-62C>T, XM_047416799.1:c.-62C>G, XR_007058582.1:n.140C>T, XR_007058582.1:n.140C>G, XM_047416798.1:c.-331C>T, XM_047416798.1:c.-331C>G, XR_007058583.1:n.140C>T, XR_007058583.1:n.140C>G

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