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Items: 1 to 20 of 805

1.

rs1490702146 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:682858 (GRCh38)
    4:676647 (GRCh37)
    Canonical SPDI:
    NC_000004.12:682857:A:G
    Gene:
    SLC49A3 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.682858A>G, NC_000004.11:g.676647A>G, NM_032219.4:c.1184T>C, NM_032219.3:c.1184T>C, NM_032219.2:c.1184T>C, XM_011513572.3:c.980T>C, XM_011513572.2:c.980T>C, XM_011513572.1:c.980T>C, NM_001294341.2:c.1187T>C, NM_001294341.1:c.1187T>C, XM_006713918.2:c.995T>C, XM_006713918.1:c.995T>C, NM_001294342.2:c.830T>C, NM_001294342.1:c.830T>C, XM_047416279.1:c.1145T>C, XM_047416281.1:c.1070T>C, XM_047416280.1:c.1079T>C, XM_047416284.1:c.1274T>C, XM_047416287.1:c.995T>C, XM_047416288.1:c.1187T>C, XM_047416286.1:c.995T>C, XM_047416282.1:c.1049T>C, XM_047416283.1:c.1019T>C, XM_047416289.1:c.953T>C, NM_001378061.1:c.950T>C, XM_047416291.1:c.980T>C, NM_001378059.1:c.896T>C, NM_001378060.1:c.893T>C, NM_001378062.1:c.827T>C, XM_047416290.1:c.1187T>C, XR_007057974.1:n.1207T>C, NP_115595.2:p.Met395Thr, XP_011511874.1:p.Met327Thr, NP_001281270.1:p.Met396Thr, XP_006713981.1:p.Met332Thr, NP_001281271.1:p.Met277Thr, XP_047272235.1:p.Met382Thr, XP_047272237.1:p.Met357Thr, XP_047272236.1:p.Met360Thr, XP_047272240.1:p.Met425Thr, XP_047272243.1:p.Met332Thr, XP_047272244.1:p.Met396Thr, XP_047272242.1:p.Met332Thr, XP_047272238.1:p.Met350Thr, XP_047272239.1:p.Met340Thr, XP_047272245.1:p.Met318Thr, NP_001364990.1:p.Met317Thr, XP_047272247.1:p.Met327Thr, NP_001364988.1:p.Met299Thr, NP_001364989.1:p.Met298Thr, NP_001364991.1:p.Met276Thr, XP_047272246.1:p.Met396Thr

    2.

    rs1490536753 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:686623 (GRCh38)
      4:680412 (GRCh37)
      Canonical SPDI:
      NC_000004.12:686622:A:G
      Gene:
      SLC49A3 (Varview), LOC124900643 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000011/3 (TOPMED)
      HGVS:
      NC_000004.12:g.686623A>G, NC_000004.11:g.680412A>G, NM_032219.4:c.203T>C, NM_032219.3:c.203T>C, NM_032219.2:c.203T>C, XM_011513572.3:c.290T>C, XM_011513572.2:c.290T>C, XM_011513572.1:c.290T>C, NM_001294341.2:c.203T>C, NM_001294341.1:c.203T>C, XM_006713918.2:c.11T>C, XM_006713918.1:c.11T>C, NM_001294342.2:c.137T>C, NM_001294342.1:c.137T>C, XM_047416279.1:c.319T>C, XM_047416281.1:c.244T>C, XM_047416280.1:c.253T>C, XM_047416284.1:c.290T>C, XM_047416287.1:c.11T>C, XM_047416288.1:c.203T>C, XM_047416286.1:c.11T>C, XM_047416282.1:c.203T>C, XM_047416283.1:c.203T>C, XM_047416289.1:c.203T>C, NM_001378061.1:c.203T>C, XM_047416291.1:c.290T>C, NM_001378059.1:c.203T>C, NM_001378060.1:c.203T>C, NM_001378062.1:c.137T>C, XM_047416290.1:c.203T>C, XR_007057974.1:n.227T>C, XR_007057975.1:n.227T>C, XR_007057976.1:n.227T>C, NP_115595.2:p.Ile68Thr, XP_011511874.1:p.Ile97Thr, NP_001281270.1:p.Ile68Thr, XP_006713981.1:p.Ile4Thr, NP_001281271.1:p.Ile46Thr, XP_047272235.1:p.Ser107Pro, XP_047272237.1:p.Ser82Pro, XP_047272236.1:p.Ser85Pro, XP_047272240.1:p.Ile97Thr, XP_047272243.1:p.Ile4Thr, XP_047272244.1:p.Ile68Thr, XP_047272242.1:p.Ile4Thr, XP_047272238.1:p.Ile68Thr, XP_047272239.1:p.Ile68Thr, XP_047272245.1:p.Ile68Thr, NP_001364990.1:p.Ile68Thr, XP_047272247.1:p.Ile97Thr, NP_001364988.1:p.Ile68Thr, NP_001364989.1:p.Ile68Thr, NP_001364991.1:p.Ile46Thr, XP_047272246.1:p.Ile68Thr

      3.

      rs1490304330 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        4:681979 (GRCh38)
        4:675768 (GRCh37)
        Canonical SPDI:
        NC_000004.12:681978:G:A,NC_000004.12:681978:G:C
        Gene:
        MYL5 (Varview), SLC49A3 (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.000562/1 (Korea1K)
        HGVS:
        NC_000004.12:g.681979G>A, NC_000004.12:g.681979G>C, NC_000004.11:g.675768G>A, NC_000004.11:g.675768G>C, NM_032219.4:c.1659C>T, NM_032219.4:c.1659C>G, NM_032219.3:c.1659C>T, NM_032219.3:c.1659C>G, NM_032219.2:c.1659C>T, NM_032219.2:c.1659C>G, XM_011513572.3:c.1455C>T, XM_011513572.3:c.1455C>G, XM_011513572.2:c.1455C>T, XM_011513572.2:c.1455C>G, XM_011513572.1:c.1455C>T, XM_011513572.1:c.1455C>G, NM_001294341.2:c.1662C>T, NM_001294341.2:c.1662C>G, NM_001294341.1:c.1662C>T, NM_001294341.1:c.1662C>G, XM_006713918.2:c.1470C>T, XM_006713918.2:c.1470C>G, XM_006713918.1:c.1470C>T, XM_006713918.1:c.1470C>G, NM_001294342.2:c.1305C>T, NM_001294342.2:c.1305C>G, NM_001294342.1:c.1305C>T, NM_001294342.1:c.1305C>G, NM_002477.2:c.507G>A, NM_002477.2:c.507G>C, NM_002477.1:c.507G>A, NM_002477.1:c.507G>C, NM_001363650.2:c.384G>A, NM_001363650.2:c.384G>C, NM_001363650.1:c.384G>A, NM_001363650.1:c.384G>C, XM_047415724.1:c.522G>A, XM_047415724.1:c.522G>C, XM_047415726.1:c.522G>A, XM_047415726.1:c.522G>C, XM_047415729.1:c.507G>A, XM_047415729.1:c.507G>C, XM_047415730.1:c.507G>A, XM_047415730.1:c.507G>C, XM_047415728.1:c.522G>A, XM_047415728.1:c.522G>C, XM_047415727.1:c.522G>A, XM_047415727.1:c.522G>C, XM_047415725.1:c.522G>A, XM_047415725.1:c.522G>C, XM_047416279.1:c.1620C>T, XM_047416279.1:c.1620C>G, XM_047416281.1:c.1545C>T, XM_047416281.1:c.1545C>G, NM_001395443.1:c.507G>A, NM_001395443.1:c.507G>C, NM_001395447.1:c.384G>A, NM_001395447.1:c.384G>C, NM_001395441.1:c.507G>A, NM_001395441.1:c.507G>C, NM_001395442.1:c.507G>A, NM_001395442.1:c.507G>C, XM_047416280.1:c.1554C>T, XM_047416280.1:c.1554C>G, NM_001395444.1:c.384G>A, NM_001395444.1:c.384G>C, NM_001395445.1:c.384G>A, NM_001395445.1:c.384G>C, XM_047416284.1:c.1749C>T, XM_047416284.1:c.1749C>G, XM_047416287.1:c.1470C>T, XM_047416287.1:c.1470C>G, XM_047416288.1:c.*164C>T, XM_047416288.1:c.*164C>G, XM_047416286.1:c.1470C>T, XM_047416286.1:c.1470C>G, XM_047416282.1:c.1524C>T, XM_047416282.1:c.1524C>G, XM_047416283.1:c.1494C>T, XM_047416283.1:c.1494C>G, XM_047416289.1:c.1428C>T, XM_047416289.1:c.1428C>G, NM_001378061.1:c.1425C>T, NM_001378061.1:c.1425C>G, XM_047416291.1:c.*164C>T, XM_047416291.1:c.*164C>G, NM_001378059.1:c.1371C>T, NM_001378059.1:c.1371C>G, NM_001378060.1:c.1368C>T, NM_001378060.1:c.1368C>G, NM_001378062.1:c.1302C>T, NM_001378062.1:c.1302C>G, NM_001395446.1:c.384G>A, NM_001395446.1:c.384G>C, NM_001395448.1:c.384G>A, NM_001395448.1:c.384G>C, NM_001395449.1:c.384G>A, NM_001395449.1:c.384G>C, NP_002468.1:p.Glu169Asp, NP_001350579.1:p.Glu128Asp, XP_047271680.1:p.Glu174Asp, XP_047271682.1:p.Glu174Asp, XP_047271685.1:p.Glu169Asp, XP_047271686.1:p.Glu169Asp, XP_047271684.1:p.Glu174Asp, XP_047271683.1:p.Glu174Asp, XP_047271681.1:p.Glu174Asp, NP_001382372.1:p.Glu169Asp, NP_001382376.1:p.Glu128Asp, NP_001382370.1:p.Glu169Asp, NP_001382371.1:p.Glu169Asp, NP_001382373.1:p.Glu128Asp, NP_001382374.1:p.Glu128Asp, NP_001382375.1:p.Glu128Asp, NP_001382377.1:p.Glu128Asp, NP_001382378.1:p.Glu128Asp

        4.

        rs1490223352 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          4:689006 (GRCh38)
          4:682795 (GRCh37)
          Canonical SPDI:
          NC_000004.12:689005:C:A
          Gene:
          SLC49A3 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.001566/7 (ALFA)
          A=0.000043/6 (GnomAD)
          A=0.001563/7 (Estonian)
          HGVS:
          NC_000004.12:g.689006C>A, NC_000004.11:g.682795C>A, NM_032219.4:c.122G>T, NM_032219.3:c.122G>T, NM_032219.2:c.122G>T, XM_011513572.3:c.122G>T, XM_011513572.2:c.122G>T, XM_011513572.1:c.122G>T, NM_001294341.2:c.122G>T, NM_001294341.1:c.122G>T, XM_006713918.2:c.-165G>T, NM_001294342.2:c.122G>T, NM_001294342.1:c.122G>T, XM_047416280.1:c.-350G>T, XM_047416284.1:c.122G>T, XM_047416288.1:c.122G>T, XM_047416282.1:c.122G>T, XM_047416283.1:c.122G>T, XM_047416289.1:c.122G>T, NM_001378061.1:c.122G>T, XM_047416291.1:c.122G>T, NM_001378059.1:c.122G>T, NM_001378060.1:c.122G>T, NM_001378062.1:c.122G>T, XM_047416290.1:c.122G>T, XR_007057974.1:n.146G>T, XR_007057975.1:n.146G>T, XR_007057976.1:n.146G>T, NP_115595.2:p.Cys41Phe, XP_011511874.1:p.Cys41Phe, NP_001281270.1:p.Cys41Phe, NP_001281271.1:p.Cys41Phe, XP_047272240.1:p.Cys41Phe, XP_047272244.1:p.Cys41Phe, XP_047272238.1:p.Cys41Phe, XP_047272239.1:p.Cys41Phe, XP_047272245.1:p.Cys41Phe, NP_001364990.1:p.Cys41Phe, XP_047272247.1:p.Cys41Phe, NP_001364988.1:p.Cys41Phe, NP_001364989.1:p.Cys41Phe, NP_001364991.1:p.Cys41Phe, XP_047272246.1:p.Cys41Phe

          5.

          rs1488024247 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            4:684516 (GRCh38)
            4:678305 (GRCh37)
            Canonical SPDI:
            NC_000004.12:684515:C:A,NC_000004.12:684515:C:T
            Gene:
            SLC49A3 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000004.12:g.684516C>A, NC_000004.12:g.684516C>T, NC_000004.11:g.678305C>A, NC_000004.11:g.678305C>T, NM_032219.4:c.807G>T, NM_032219.4:c.807G>A, NM_032219.3:c.807G>T, NM_032219.3:c.807G>A, NM_032219.2:c.807G>T, NM_032219.2:c.807G>A, XM_011513572.3:c.603G>T, XM_011513572.3:c.603G>A, XM_011513572.2:c.603G>T, XM_011513572.2:c.603G>A, XM_011513572.1:c.603G>T, XM_011513572.1:c.603G>A, NM_001294341.2:c.810G>T, NM_001294341.2:c.810G>A, NM_001294341.1:c.810G>T, NM_001294341.1:c.810G>A, XM_006713918.2:c.618G>T, XM_006713918.2:c.618G>A, XM_006713918.1:c.618G>T, XM_006713918.1:c.618G>A, NM_001294342.2:c.453G>T, NM_001294342.2:c.453G>A, NM_001294342.1:c.453G>T, NM_001294342.1:c.453G>A, XM_047416279.1:c.768G>T, XM_047416279.1:c.768G>A, XM_047416281.1:c.693G>T, XM_047416281.1:c.693G>A, XM_047416280.1:c.702G>T, XM_047416280.1:c.702G>A, XM_047416284.1:c.897G>T, XM_047416284.1:c.897G>A, XM_047416287.1:c.618G>T, XM_047416287.1:c.618G>A, XM_047416288.1:c.810G>T, XM_047416288.1:c.810G>A, XM_047416286.1:c.618G>T, XM_047416286.1:c.618G>A, XM_047416282.1:c.672G>T, XM_047416282.1:c.672G>A, XM_047416283.1:c.642G>T, XM_047416283.1:c.642G>A, XM_047416289.1:c.576G>T, XM_047416289.1:c.576G>A, NM_001378061.1:c.573G>T, NM_001378061.1:c.573G>A, XM_047416291.1:c.603G>T, XM_047416291.1:c.603G>A, NM_001378059.1:c.519G>T, NM_001378059.1:c.519G>A, NM_001378060.1:c.516G>T, NM_001378060.1:c.516G>A, NM_001378062.1:c.450G>T, NM_001378062.1:c.450G>A, XM_047416290.1:c.810G>T, XM_047416290.1:c.810G>A, XR_007057974.1:n.834G>T, XR_007057974.1:n.834G>A, XR_007057975.1:n.814G>T, XR_007057975.1:n.814G>A, XR_007057976.1:n.811G>T, XR_007057976.1:n.811G>A

            6.

            rs1487720405 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:684722 (GRCh38)
              4:678511 (GRCh37)
              Canonical SPDI:
              NC_000004.12:684721:C:T
              Gene:
              SLC49A3 (Varview), LOC124900643 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              NC_000004.12:g.684722C>T, NC_000004.11:g.678511C>T, NM_032219.4:c.720G>A, NM_032219.3:c.720G>A, NM_032219.2:c.720G>A, XM_011513572.3:c.516G>A, XM_011513572.2:c.516G>A, XM_011513572.1:c.516G>A, NM_001294341.2:c.720G>A, NM_001294341.1:c.720G>A, XM_006713918.2:c.528G>A, XM_006713918.1:c.528G>A, NM_001294342.2:c.363G>A, NM_001294342.1:c.363G>A, XM_047416279.1:c.678G>A, XM_047416281.1:c.603G>A, XM_047416280.1:c.612G>A, XM_047416284.1:c.807G>A, XM_047416287.1:c.528G>A, XM_047416288.1:c.720G>A, XM_047416286.1:c.528G>A, XM_047416282.1:c.582G>A, XM_047416283.1:c.552G>A, XM_047416289.1:c.486G>A, NM_001378061.1:c.486G>A, XM_047416291.1:c.516G>A, NM_001378059.1:c.429G>A, NM_001378060.1:c.429G>A, NM_001378062.1:c.363G>A, XM_047416290.1:c.720G>A, XR_007057974.1:n.744G>A, XR_007057975.1:n.724G>A, XR_007057976.1:n.724G>A

              7.

              rs1486792610 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:686573 (GRCh38)
                4:680362 (GRCh37)
                Canonical SPDI:
                NC_000004.12:686572:C:T
                Gene:
                SLC49A3 (Varview), LOC124900643 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained,non_coding_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                T=0.000029/4 (GnomAD)
                HGVS:
                NC_000004.12:g.686573C>T, NC_000004.11:g.680362C>T, NM_032219.4:c.253G>A, NM_032219.3:c.253G>A, NM_032219.2:c.253G>A, XM_011513572.3:c.340G>A, XM_011513572.2:c.340G>A, XM_011513572.1:c.340G>A, NM_001294341.2:c.253G>A, NM_001294341.1:c.253G>A, XM_006713918.2:c.61G>A, XM_006713918.1:c.61G>A, NM_001294342.2:c.187G>A, NM_001294342.1:c.187G>A, XM_047416279.1:c.369G>A, XM_047416281.1:c.294G>A, XM_047416280.1:c.303G>A, XM_047416284.1:c.340G>A, XM_047416287.1:c.61G>A, XM_047416288.1:c.253G>A, XM_047416286.1:c.61G>A, XM_047416282.1:c.253G>A, XM_047416283.1:c.253G>A, XM_047416289.1:c.253G>A, NM_001378061.1:c.253G>A, XM_047416291.1:c.340G>A, NM_001378059.1:c.253G>A, NM_001378060.1:c.253G>A, NM_001378062.1:c.187G>A, XM_047416290.1:c.253G>A, XR_007057974.1:n.277G>A, XR_007057975.1:n.277G>A, XR_007057976.1:n.277G>A, NP_115595.2:p.Ala85Thr, XP_011511874.1:p.Ala114Thr, NP_001281270.1:p.Ala85Thr, XP_006713981.1:p.Ala21Thr, NP_001281271.1:p.Ala63Thr, XP_047272235.1:p.Trp123Ter, XP_047272237.1:p.Trp98Ter, XP_047272236.1:p.Trp101Ter, XP_047272240.1:p.Ala114Thr, XP_047272243.1:p.Ala21Thr, XP_047272244.1:p.Ala85Thr, XP_047272242.1:p.Ala21Thr, XP_047272238.1:p.Ala85Thr, XP_047272239.1:p.Ala85Thr, XP_047272245.1:p.Ala85Thr, NP_001364990.1:p.Ala85Thr, XP_047272247.1:p.Ala114Thr, NP_001364988.1:p.Ala85Thr, NP_001364989.1:p.Ala85Thr, NP_001364991.1:p.Ala63Thr, XP_047272246.1:p.Ala85Thr

                8.

                rs1486094355 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  4:686648 (GRCh38)
                  4:680437 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:686647:C:G
                  Gene:
                  SLC49A3 (Varview), LOC124900643 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  G=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.686648C>G, NC_000004.11:g.680437C>G, NM_032219.4:c.178G>C, NM_032219.3:c.178G>C, NM_032219.2:c.178G>C, XM_011513572.3:c.265G>C, XM_011513572.2:c.265G>C, XM_011513572.1:c.265G>C, NM_001294341.2:c.178G>C, NM_001294341.1:c.178G>C, XM_006713918.2:c.-15G>C, XM_006713918.1:c.-15G>C, XM_047416279.1:c.294G>C, XM_047416281.1:c.219G>C, XM_047416280.1:c.228G>C, XM_047416284.1:c.265G>C, XM_047416287.1:c.-15G>C, XM_047416288.1:c.178G>C, XM_047416286.1:c.-15G>C, XM_047416282.1:c.178G>C, XM_047416283.1:c.178G>C, XM_047416289.1:c.178G>C, NM_001378061.1:c.178G>C, XM_047416291.1:c.265G>C, NM_001378059.1:c.178G>C, NM_001378060.1:c.178G>C, XM_047416290.1:c.178G>C, XR_007057974.1:n.202G>C, XR_007057975.1:n.202G>C, XR_007057976.1:n.202G>C, NP_115595.2:p.Asp60His, XP_011511874.1:p.Asp89His, NP_001281270.1:p.Asp60His, XP_047272235.1:p.Arg98Ser, XP_047272237.1:p.Arg73Ser, XP_047272236.1:p.Arg76Ser, XP_047272240.1:p.Asp89His, XP_047272244.1:p.Asp60His, XP_047272238.1:p.Asp60His, XP_047272239.1:p.Asp60His, XP_047272245.1:p.Asp60His, NP_001364990.1:p.Asp60His, XP_047272247.1:p.Asp89His, NP_001364988.1:p.Asp60His, NP_001364989.1:p.Asp60His, XP_047272246.1:p.Asp60His

                  9.

                  rs1485760019 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    4:686190 (GRCh38)
                    4:679979 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:686189:C:G,NC_000004.12:686189:C:T
                    Gene:
                    SLC49A3 (Varview), LOC124900643 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000004.12:g.686190C>G, NC_000004.12:g.686190C>T, NC_000004.11:g.679979C>G, NC_000004.11:g.679979C>T, NM_032219.4:c.407G>C, NM_032219.4:c.407G>A, NM_032219.3:c.407G>C, NM_032219.3:c.407G>A, NM_032219.2:c.407G>C, NM_032219.2:c.407G>A, NM_001294341.2:c.407G>C, NM_001294341.2:c.407G>A, NM_001294341.1:c.407G>C, NM_001294341.1:c.407G>A, XM_006713918.2:c.215G>C, XM_006713918.2:c.215G>A, XM_006713918.1:c.215G>C, XM_006713918.1:c.215G>A, XM_047416284.1:c.494G>C, XM_047416284.1:c.494G>A, XM_047416287.1:c.215G>C, XM_047416287.1:c.215G>A, XM_047416288.1:c.407G>C, XM_047416288.1:c.407G>A, XM_047416286.1:c.215G>C, XM_047416286.1:c.215G>A, XM_047416290.1:c.407G>C, XM_047416290.1:c.407G>A, XR_007057974.1:n.431G>C, XR_007057974.1:n.431G>A, XR_007057975.1:n.431G>C, XR_007057975.1:n.431G>A, XR_007057976.1:n.431G>C, XR_007057976.1:n.431G>A, NP_115595.2:p.Cys136Ser, NP_115595.2:p.Cys136Tyr, NP_001281270.1:p.Cys136Ser, NP_001281270.1:p.Cys136Tyr, XP_006713981.1:p.Cys72Ser, XP_006713981.1:p.Cys72Tyr, XP_047272240.1:p.Cys165Ser, XP_047272240.1:p.Cys165Tyr, XP_047272243.1:p.Cys72Ser, XP_047272243.1:p.Cys72Tyr, XP_047272244.1:p.Cys136Ser, XP_047272244.1:p.Cys136Tyr, XP_047272242.1:p.Cys72Ser, XP_047272242.1:p.Cys72Tyr, XP_047272246.1:p.Cys136Ser, XP_047272246.1:p.Cys136Tyr

                    10.

                    rs1485193303 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      4:681974 (GRCh38)
                      4:675763 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:681973:G:A,NC_000004.12:681973:G:T
                      Gene:
                      MYL5 (Varview), SLC49A3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000004.12:g.681974G>A, NC_000004.12:g.681974G>T, NC_000004.11:g.675763G>A, NC_000004.11:g.675763G>T, NM_032219.4:c.1664C>T, NM_032219.4:c.1664C>A, NM_032219.3:c.1664C>T, NM_032219.3:c.1664C>A, NM_032219.2:c.1664C>T, NM_032219.2:c.1664C>A, XM_011513572.3:c.1460C>T, XM_011513572.3:c.1460C>A, XM_011513572.2:c.1460C>T, XM_011513572.2:c.1460C>A, XM_011513572.1:c.1460C>T, XM_011513572.1:c.1460C>A, NM_001294341.2:c.1667C>T, NM_001294341.2:c.1667C>A, NM_001294341.1:c.1667C>T, NM_001294341.1:c.1667C>A, XM_006713918.2:c.1475C>T, XM_006713918.2:c.1475C>A, XM_006713918.1:c.1475C>T, XM_006713918.1:c.1475C>A, NM_001294342.2:c.1310C>T, NM_001294342.2:c.1310C>A, NM_001294342.1:c.1310C>T, NM_001294342.1:c.1310C>A, NM_002477.2:c.502G>A, NM_002477.2:c.502G>T, NM_002477.1:c.502G>A, NM_002477.1:c.502G>T, NM_001363650.2:c.379G>A, NM_001363650.2:c.379G>T, NM_001363650.1:c.379G>A, NM_001363650.1:c.379G>T, XM_047415724.1:c.517G>A, XM_047415724.1:c.517G>T, XM_047415726.1:c.517G>A, XM_047415726.1:c.517G>T, XM_047415729.1:c.502G>A, XM_047415729.1:c.502G>T, XM_047415730.1:c.502G>A, XM_047415730.1:c.502G>T, XM_047415728.1:c.517G>A, XM_047415728.1:c.517G>T, XM_047415727.1:c.517G>A, XM_047415727.1:c.517G>T, XM_047415725.1:c.517G>A, XM_047415725.1:c.517G>T, XM_047416279.1:c.1625C>T, XM_047416279.1:c.1625C>A, XM_047416281.1:c.1550C>T, XM_047416281.1:c.1550C>A, NM_001395443.1:c.502G>A, NM_001395443.1:c.502G>T, NM_001395447.1:c.379G>A, NM_001395447.1:c.379G>T, NM_001395441.1:c.502G>A, NM_001395441.1:c.502G>T, NM_001395442.1:c.502G>A, NM_001395442.1:c.502G>T, XM_047416280.1:c.1559C>T, XM_047416280.1:c.1559C>A, NM_001395444.1:c.379G>A, NM_001395444.1:c.379G>T, NM_001395445.1:c.379G>A, NM_001395445.1:c.379G>T, XM_047416284.1:c.1754C>T, XM_047416284.1:c.1754C>A, XM_047416287.1:c.1475C>T, XM_047416287.1:c.1475C>A, XM_047416288.1:c.*169C>T, XM_047416288.1:c.*169C>A, XM_047416286.1:c.1475C>T, XM_047416286.1:c.1475C>A, XM_047416282.1:c.1529C>T, XM_047416282.1:c.1529C>A, XM_047416283.1:c.1499C>T, XM_047416283.1:c.1499C>A, XM_047416289.1:c.1433C>T, XM_047416289.1:c.1433C>A, NM_001378061.1:c.1430C>T, NM_001378061.1:c.1430C>A, XM_047416291.1:c.*169C>T, XM_047416291.1:c.*169C>A, NM_001378059.1:c.1376C>T, NM_001378059.1:c.1376C>A, NM_001378060.1:c.1373C>T, NM_001378060.1:c.1373C>A, NM_001378062.1:c.1307C>T, NM_001378062.1:c.1307C>A, NM_001395446.1:c.379G>A, NM_001395446.1:c.379G>T, NM_001395448.1:c.379G>A, NM_001395448.1:c.379G>T, NM_001395449.1:c.379G>A, NM_001395449.1:c.379G>T, NP_115595.2:p.Pro555Leu, NP_115595.2:p.Pro555Gln, XP_011511874.1:p.Pro487Leu, XP_011511874.1:p.Pro487Gln, NP_001281270.1:p.Pro556Leu, NP_001281270.1:p.Pro556Gln, XP_006713981.1:p.Pro492Leu, XP_006713981.1:p.Pro492Gln, NP_001281271.1:p.Pro437Leu, NP_001281271.1:p.Pro437Gln, NP_002468.1:p.Gly168Arg, NP_002468.1:p.Gly168Trp, NP_001350579.1:p.Gly127Arg, NP_001350579.1:p.Gly127Trp, XP_047271680.1:p.Gly173Arg, XP_047271680.1:p.Gly173Trp, XP_047271682.1:p.Gly173Arg, XP_047271682.1:p.Gly173Trp, XP_047271685.1:p.Gly168Arg, XP_047271685.1:p.Gly168Trp, XP_047271686.1:p.Gly168Arg, XP_047271686.1:p.Gly168Trp, XP_047271684.1:p.Gly173Arg, XP_047271684.1:p.Gly173Trp, XP_047271683.1:p.Gly173Arg, XP_047271683.1:p.Gly173Trp, XP_047271681.1:p.Gly173Arg, XP_047271681.1:p.Gly173Trp, XP_047272235.1:p.Pro542Leu, XP_047272235.1:p.Pro542Gln, XP_047272237.1:p.Pro517Leu, XP_047272237.1:p.Pro517Gln, NP_001382372.1:p.Gly168Arg, NP_001382372.1:p.Gly168Trp, NP_001382376.1:p.Gly127Arg, NP_001382376.1:p.Gly127Trp, NP_001382370.1:p.Gly168Arg, NP_001382370.1:p.Gly168Trp, NP_001382371.1:p.Gly168Arg, NP_001382371.1:p.Gly168Trp, XP_047272236.1:p.Pro520Leu, XP_047272236.1:p.Pro520Gln, NP_001382373.1:p.Gly127Arg, NP_001382373.1:p.Gly127Trp, NP_001382374.1:p.Gly127Arg, NP_001382374.1:p.Gly127Trp, XP_047272240.1:p.Pro585Leu, XP_047272240.1:p.Pro585Gln, XP_047272243.1:p.Pro492Leu, XP_047272243.1:p.Pro492Gln, XP_047272242.1:p.Pro492Leu, XP_047272242.1:p.Pro492Gln, XP_047272238.1:p.Pro510Leu, XP_047272238.1:p.Pro510Gln, XP_047272239.1:p.Pro500Leu, XP_047272239.1:p.Pro500Gln, XP_047272245.1:p.Pro478Leu, XP_047272245.1:p.Pro478Gln, NP_001364990.1:p.Pro477Leu, NP_001364990.1:p.Pro477Gln, NP_001364988.1:p.Pro459Leu, NP_001364988.1:p.Pro459Gln, NP_001364989.1:p.Pro458Leu, NP_001364989.1:p.Pro458Gln, NP_001364991.1:p.Pro436Leu, NP_001364991.1:p.Pro436Gln, NP_001382375.1:p.Gly127Arg, NP_001382375.1:p.Gly127Trp, NP_001382377.1:p.Gly127Arg, NP_001382377.1:p.Gly127Trp, NP_001382378.1:p.Gly127Arg, NP_001382378.1:p.Gly127Trp

                      11.

                      rs1482500167 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        4:686185 (GRCh38)
                        4:679974 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:686184:G:C
                        Gene:
                        SLC49A3 (Varview), LOC124900643 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1481400920 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:688993 (GRCh38)
                          4:682782 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:688992:C:T
                          Gene:
                          SLC49A3 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.00005/1 (ALFA)
                          HGVS:

                          13.

                          rs1476739788 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            4:681997 (GRCh38)
                            4:675786 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:681996:C:G,NC_000004.12:681996:C:T
                            Gene:
                            MYL5 (Varview), SLC49A3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            NC_000004.12:g.681997C>G, NC_000004.12:g.681997C>T, NC_000004.11:g.675786C>G, NC_000004.11:g.675786C>T, NM_032219.4:c.1641G>C, NM_032219.4:c.1641G>A, NM_032219.3:c.1641G>C, NM_032219.3:c.1641G>A, NM_032219.2:c.1641G>C, NM_032219.2:c.1641G>A, XM_011513572.3:c.1437G>C, XM_011513572.3:c.1437G>A, XM_011513572.2:c.1437G>C, XM_011513572.2:c.1437G>A, XM_011513572.1:c.1437G>C, XM_011513572.1:c.1437G>A, NM_001294341.2:c.1644G>C, NM_001294341.2:c.1644G>A, NM_001294341.1:c.1644G>C, NM_001294341.1:c.1644G>A, XM_006713918.2:c.1452G>C, XM_006713918.2:c.1452G>A, XM_006713918.1:c.1452G>C, XM_006713918.1:c.1452G>A, NM_001294342.2:c.1287G>C, NM_001294342.2:c.1287G>A, NM_001294342.1:c.1287G>C, NM_001294342.1:c.1287G>A, NM_002477.2:c.*3C>G, NM_002477.2:c.*3C>T, NM_002477.1:c.*3C>G, NM_002477.1:c.*3C>T, NM_001363650.2:c.*3C>G, NM_001363650.2:c.*3C>T, NM_001363650.1:c.*3C>G, NM_001363650.1:c.*3C>T, XM_047415724.1:c.*3C>G, XM_047415724.1:c.*3C>T, XM_047415726.1:c.*3C>G, XM_047415726.1:c.*3C>T, XM_047415729.1:c.*3C>G, XM_047415729.1:c.*3C>T, XM_047415730.1:c.*3C>G, XM_047415730.1:c.*3C>T, XM_047415728.1:c.*3C>G, XM_047415728.1:c.*3C>T, XM_047415727.1:c.*3C>G, XM_047415727.1:c.*3C>T, XM_047415725.1:c.*3C>G, XM_047415725.1:c.*3C>T, XM_047416279.1:c.1602G>C, XM_047416279.1:c.1602G>A, XM_047416281.1:c.1527G>C, XM_047416281.1:c.1527G>A, NM_001395443.1:c.*3C>G, NM_001395443.1:c.*3C>T, NM_001395447.1:c.*3C>G, NM_001395447.1:c.*3C>T, NM_001395441.1:c.*3C>G, NM_001395441.1:c.*3C>T, NM_001395442.1:c.*3C>G, NM_001395442.1:c.*3C>T, XM_047416280.1:c.1536G>C, XM_047416280.1:c.1536G>A, NM_001395444.1:c.*3C>G, NM_001395444.1:c.*3C>T, NM_001395445.1:c.*3C>G, NM_001395445.1:c.*3C>T, XM_047416284.1:c.1731G>C, XM_047416284.1:c.1731G>A, XM_047416287.1:c.1452G>C, XM_047416287.1:c.1452G>A, XM_047416288.1:c.*146G>C, XM_047416288.1:c.*146G>A, XM_047416286.1:c.1452G>C, XM_047416286.1:c.1452G>A, XM_047416282.1:c.1506G>C, XM_047416282.1:c.1506G>A, XM_047416283.1:c.1476G>C, XM_047416283.1:c.1476G>A, XM_047416289.1:c.1410G>C, XM_047416289.1:c.1410G>A, NM_001378061.1:c.1407G>C, NM_001378061.1:c.1407G>A, XM_047416291.1:c.*146G>C, XM_047416291.1:c.*146G>A, NM_001378059.1:c.1353G>C, NM_001378059.1:c.1353G>A, NM_001378060.1:c.1350G>C, NM_001378060.1:c.1350G>A, NM_001378062.1:c.1284G>C, NM_001378062.1:c.1284G>A, NM_001395446.1:c.*3C>G, NM_001395446.1:c.*3C>T, NM_001395448.1:c.*3C>G, NM_001395448.1:c.*3C>T, NM_001395449.1:c.*3C>G, NM_001395449.1:c.*3C>T

                            14.

                            rs1476632167 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              4:684731 (GRCh38)
                              4:678520 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:684730:A:C
                              Gene:
                              SLC49A3 (Varview), LOC124900643 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.684731A>C, NC_000004.11:g.678520A>C, NM_032219.4:c.711T>G, NM_032219.3:c.711T>G, NM_032219.2:c.711T>G, XM_011513572.3:c.507T>G, XM_011513572.2:c.507T>G, XM_011513572.1:c.507T>G, NM_001294341.2:c.711T>G, NM_001294341.1:c.711T>G, XM_006713918.2:c.519T>G, XM_006713918.1:c.519T>G, NM_001294342.2:c.354T>G, NM_001294342.1:c.354T>G, XM_047416279.1:c.669T>G, XM_047416281.1:c.594T>G, XM_047416280.1:c.603T>G, XM_047416284.1:c.798T>G, XM_047416287.1:c.519T>G, XM_047416288.1:c.711T>G, XM_047416286.1:c.519T>G, XM_047416282.1:c.573T>G, XM_047416283.1:c.543T>G, XM_047416289.1:c.477T>G, NM_001378061.1:c.477T>G, XM_047416291.1:c.507T>G, NM_001378059.1:c.420T>G, NM_001378060.1:c.420T>G, NM_001378062.1:c.354T>G, XM_047416290.1:c.711T>G, XR_007057974.1:n.735T>G, XR_007057975.1:n.715T>G, XR_007057976.1:n.715T>G, NP_115595.2:p.Asp237Glu, XP_011511874.1:p.Asp169Glu, NP_001281270.1:p.Asp237Glu, XP_006713981.1:p.Asp173Glu, NP_001281271.1:p.Asp118Glu, XP_047272235.1:p.Asp223Glu, XP_047272237.1:p.Asp198Glu, XP_047272236.1:p.Asp201Glu, XP_047272240.1:p.Asp266Glu, XP_047272243.1:p.Asp173Glu, XP_047272244.1:p.Asp237Glu, XP_047272242.1:p.Asp173Glu, XP_047272238.1:p.Asp191Glu, XP_047272239.1:p.Asp181Glu, XP_047272245.1:p.Asp159Glu, NP_001364990.1:p.Asp159Glu, XP_047272247.1:p.Asp169Glu, NP_001364988.1:p.Asp140Glu, NP_001364989.1:p.Asp140Glu, NP_001364991.1:p.Asp118Glu, XP_047272246.1:p.Asp237Glu

                              15.

                              rs1473299254 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                ACA>- [Show Flanks]
                                Chromosome:
                                4:683688 (GRCh38)
                                4:677477 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:683687:ACA:
                                Gene:
                                SLC49A3 (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant,non_coding_transcript_variant,inframe_indel
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000004.12:g.683688_683690del, NC_000004.11:g.677477_677479del, NM_032219.4:c.912_914del, NM_032219.3:c.912_914del, NM_032219.2:c.912_914del, XM_011513572.3:c.708_710del, XM_011513572.2:c.708_710del, XM_011513572.1:c.708_710del, NM_001294341.2:c.915_917del, NM_001294341.1:c.915_917del, XM_006713918.2:c.723_725del, XM_006713918.1:c.723_725del, NM_001294342.2:c.558_560del, NM_001294342.1:c.558_560del, XM_047416279.1:c.873_875del, XM_047416281.1:c.798_800del, XM_047416280.1:c.807_809del, XM_047416284.1:c.1002_1004del, XM_047416287.1:c.723_725del, XM_047416288.1:c.915_917del, XM_047416286.1:c.723_725del, XM_047416282.1:c.777_779del, XM_047416283.1:c.747_749del, XM_047416289.1:c.681_683del, NM_001378061.1:c.678_680del, XM_047416291.1:c.708_710del, NM_001378059.1:c.624_626del, NM_001378060.1:c.621_623del, NM_001378062.1:c.555_557del, XM_047416290.1:c.915_917del, XR_007057974.1:n.939_941del, XR_007057975.1:n.919_921del, XR_007057976.1:n.916_918del, NP_115595.2:p.Tyr304_Val305delinsTer, XP_011511874.1:p.Tyr236_Val237delinsTer, NP_001281270.1:p.Tyr305_Val306delinsTer, XP_006713981.1:p.Tyr241_Val242delinsTer, NP_001281271.1:p.Tyr186_Val187delinsTer, XP_047272235.1:p.Tyr291_Val292delinsTer, XP_047272237.1:p.Tyr266_Val267delinsTer, XP_047272236.1:p.Tyr269_Val270delinsTer, XP_047272240.1:p.Tyr334_Val335delinsTer, XP_047272243.1:p.Tyr241_Val242delinsTer, XP_047272244.1:p.Tyr305_Val306delinsTer, XP_047272242.1:p.Tyr241_Val242delinsTer, XP_047272238.1:p.Tyr259_Val260delinsTer, XP_047272239.1:p.Tyr249_Val250delinsTer, XP_047272245.1:p.Tyr227_Val228delinsTer, NP_001364990.1:p.Tyr226_Val227delinsTer, XP_047272247.1:p.Tyr236_Val237delinsTer, NP_001364988.1:p.Tyr208_Val209delinsTer, NP_001364989.1:p.Tyr207_Val208delinsTer, NP_001364991.1:p.Tyr185_Val186delinsTer, XP_047272246.1:p.Tyr305_Val306delinsTer

                                16.

                                rs1472825624 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:683341 (GRCh38)
                                  4:677130 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:683340:A:G
                                  Gene:
                                  SLC49A3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000004.12:g.683341A>G, NC_000004.11:g.677130A>G, NM_032219.4:c.1020T>C, NM_032219.3:c.1020T>C, NM_032219.2:c.1020T>C, XM_011513572.3:c.816T>C, XM_011513572.2:c.816T>C, XM_011513572.1:c.816T>C, NM_001294341.2:c.1023T>C, NM_001294341.1:c.1023T>C, XM_006713918.2:c.831T>C, XM_006713918.1:c.831T>C, NM_001294342.2:c.666T>C, NM_001294342.1:c.666T>C, XM_047416279.1:c.981T>C, XM_047416281.1:c.906T>C, XM_047416280.1:c.915T>C, XM_047416284.1:c.1110T>C, XM_047416287.1:c.831T>C, XM_047416288.1:c.1023T>C, XM_047416286.1:c.831T>C, XM_047416282.1:c.885T>C, XM_047416283.1:c.855T>C, XM_047416289.1:c.789T>C, NM_001378061.1:c.786T>C, XM_047416291.1:c.816T>C, NM_001378059.1:c.732T>C, NM_001378060.1:c.729T>C, NM_001378062.1:c.663T>C, XM_047416290.1:c.1023T>C, XR_007057974.1:n.1047T>C, XR_007057975.1:n.1027T>C, XR_007057976.1:n.1024T>C

                                  17.

                                  rs1472021484 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    4:682097 (GRCh38)
                                    4:675886 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:682096:G:A,NC_000004.12:682096:G:T
                                    Gene:
                                    MYL5 (Varview), SLC49A3 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    NC_000004.12:g.682097G>A, NC_000004.12:g.682097G>T, NC_000004.11:g.675886G>A, NC_000004.11:g.675886G>T, NM_032219.4:c.1541C>T, NM_032219.4:c.1541C>A, NM_032219.3:c.1541C>T, NM_032219.3:c.1541C>A, NM_032219.2:c.1541C>T, NM_032219.2:c.1541C>A, XM_011513572.3:c.1337C>T, XM_011513572.3:c.1337C>A, XM_011513572.2:c.1337C>T, XM_011513572.2:c.1337C>A, XM_011513572.1:c.1337C>T, XM_011513572.1:c.1337C>A, NM_001294341.2:c.1544C>T, NM_001294341.2:c.1544C>A, NM_001294341.1:c.1544C>T, NM_001294341.1:c.1544C>A, XM_006713918.2:c.1352C>T, XM_006713918.2:c.1352C>A, XM_006713918.1:c.1352C>T, XM_006713918.1:c.1352C>A, NM_001294342.2:c.1187C>T, NM_001294342.2:c.1187C>A, NM_001294342.1:c.1187C>T, NM_001294342.1:c.1187C>A, XM_047416279.1:c.1502C>T, XM_047416279.1:c.1502C>A, XM_047416281.1:c.1427C>T, XM_047416281.1:c.1427C>A, XM_047416280.1:c.1436C>T, XM_047416280.1:c.1436C>A, XM_047416284.1:c.1631C>T, XM_047416284.1:c.1631C>A, XM_047416287.1:c.1352C>T, XM_047416287.1:c.1352C>A, XM_047416288.1:c.*46C>T, XM_047416288.1:c.*46C>A, XM_047416286.1:c.1352C>T, XM_047416286.1:c.1352C>A, XM_047416282.1:c.1406C>T, XM_047416282.1:c.1406C>A, XM_047416283.1:c.1376C>T, XM_047416283.1:c.1376C>A, XM_047416289.1:c.1310C>T, XM_047416289.1:c.1310C>A, NM_001378061.1:c.1307C>T, NM_001378061.1:c.1307C>A, XM_047416291.1:c.*46C>T, XM_047416291.1:c.*46C>A, NM_001378059.1:c.1253C>T, NM_001378059.1:c.1253C>A, NM_001378060.1:c.1250C>T, NM_001378060.1:c.1250C>A, NM_001378062.1:c.1184C>T, NM_001378062.1:c.1184C>A, NP_115595.2:p.Ala514Val, NP_115595.2:p.Ala514Glu, XP_011511874.1:p.Ala446Val, XP_011511874.1:p.Ala446Glu, NP_001281270.1:p.Ala515Val, NP_001281270.1:p.Ala515Glu, XP_006713981.1:p.Ala451Val, XP_006713981.1:p.Ala451Glu, NP_001281271.1:p.Ala396Val, NP_001281271.1:p.Ala396Glu, XP_047272235.1:p.Ala501Val, XP_047272235.1:p.Ala501Glu, XP_047272237.1:p.Ala476Val, XP_047272237.1:p.Ala476Glu, XP_047272236.1:p.Ala479Val, XP_047272236.1:p.Ala479Glu, XP_047272240.1:p.Ala544Val, XP_047272240.1:p.Ala544Glu, XP_047272243.1:p.Ala451Val, XP_047272243.1:p.Ala451Glu, XP_047272242.1:p.Ala451Val, XP_047272242.1:p.Ala451Glu, XP_047272238.1:p.Ala469Val, XP_047272238.1:p.Ala469Glu, XP_047272239.1:p.Ala459Val, XP_047272239.1:p.Ala459Glu, XP_047272245.1:p.Ala437Val, XP_047272245.1:p.Ala437Glu, NP_001364990.1:p.Ala436Val, NP_001364990.1:p.Ala436Glu, NP_001364988.1:p.Ala418Val, NP_001364988.1:p.Ala418Glu, NP_001364989.1:p.Ala417Val, NP_001364989.1:p.Ala417Glu, NP_001364991.1:p.Ala395Val, NP_001364991.1:p.Ala395Glu

                                    18.

                                    rs1471527782 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:684764 (GRCh38)
                                      4:678553 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:684763:C:T
                                      Gene:
                                      SLC49A3 (Varview), LOC124900643 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000004.12:g.684764C>T, NC_000004.11:g.678553C>T, NM_032219.4:c.678G>A, NM_032219.3:c.678G>A, NM_032219.2:c.678G>A, XM_011513572.3:c.474G>A, XM_011513572.2:c.474G>A, XM_011513572.1:c.474G>A, NM_001294341.2:c.678G>A, NM_001294341.1:c.678G>A, XM_006713918.2:c.486G>A, XM_006713918.1:c.486G>A, NM_001294342.2:c.321G>A, NM_001294342.1:c.321G>A, XM_047416279.1:c.636G>A, XM_047416281.1:c.561G>A, XM_047416280.1:c.570G>A, XM_047416284.1:c.765G>A, XM_047416287.1:c.486G>A, XM_047416288.1:c.678G>A, XM_047416286.1:c.486G>A, XM_047416282.1:c.540G>A, XM_047416283.1:c.510G>A, XM_047416289.1:c.444G>A, NM_001378061.1:c.444G>A, XM_047416291.1:c.474G>A, NM_001378059.1:c.387G>A, NM_001378060.1:c.387G>A, NM_001378062.1:c.321G>A, XM_047416290.1:c.678G>A, XR_007057974.1:n.702G>A, XR_007057975.1:n.682G>A, XR_007057976.1:n.682G>A

                                      19.

                                      rs1470100618 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        4:683612 (GRCh38)
                                        4:677401 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:683611:G:A,NC_000004.12:683611:G:T
                                        Gene:
                                        SLC49A3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000004.12:g.683612G>A, NC_000004.12:g.683612G>T, NC_000004.11:g.677401G>A, NC_000004.11:g.677401G>T, NM_032219.4:c.990C>T, NM_032219.4:c.990C>A, NM_032219.3:c.990C>T, NM_032219.3:c.990C>A, NM_032219.2:c.990C>T, NM_032219.2:c.990C>A, XM_011513572.3:c.786C>T, XM_011513572.3:c.786C>A, XM_011513572.2:c.786C>T, XM_011513572.2:c.786C>A, XM_011513572.1:c.786C>T, XM_011513572.1:c.786C>A, NM_001294341.2:c.993C>T, NM_001294341.2:c.993C>A, NM_001294341.1:c.993C>T, NM_001294341.1:c.993C>A, XM_006713918.2:c.801C>T, XM_006713918.2:c.801C>A, XM_006713918.1:c.801C>T, XM_006713918.1:c.801C>A, NM_001294342.2:c.636C>T, NM_001294342.2:c.636C>A, NM_001294342.1:c.636C>T, NM_001294342.1:c.636C>A, XM_047416279.1:c.951C>T, XM_047416279.1:c.951C>A, XM_047416281.1:c.876C>T, XM_047416281.1:c.876C>A, XM_047416280.1:c.885C>T, XM_047416280.1:c.885C>A, XM_047416284.1:c.1080C>T, XM_047416284.1:c.1080C>A, XM_047416287.1:c.801C>T, XM_047416287.1:c.801C>A, XM_047416288.1:c.993C>T, XM_047416288.1:c.993C>A, XM_047416286.1:c.801C>T, XM_047416286.1:c.801C>A, XM_047416282.1:c.855C>T, XM_047416282.1:c.855C>A, XM_047416283.1:c.825C>T, XM_047416283.1:c.825C>A, XM_047416289.1:c.759C>T, XM_047416289.1:c.759C>A, NM_001378061.1:c.756C>T, NM_001378061.1:c.756C>A, XM_047416291.1:c.786C>T, XM_047416291.1:c.786C>A, NM_001378059.1:c.702C>T, NM_001378059.1:c.702C>A, NM_001378060.1:c.699C>T, NM_001378060.1:c.699C>A, NM_001378062.1:c.633C>T, NM_001378062.1:c.633C>A, XM_047416290.1:c.993C>T, XM_047416290.1:c.993C>A, XR_007057974.1:n.1017C>T, XR_007057974.1:n.1017C>A, XR_007057975.1:n.997C>T, XR_007057975.1:n.997C>A, XR_007057976.1:n.994C>T, XR_007057976.1:n.994C>A

                                        20.

                                        rs1469996708 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:682833 (GRCh38)
                                          4:676622 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:682832:C:T
                                          Gene:
                                          SLC49A3 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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