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Items: 1 to 20 of 618

1.

rs1489128973 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:42417873 (GRCh38)
    8:42275391 (GRCh37)
    Canonical SPDI:
    NC_000008.11:42417872:A:G
    Gene:
    SLC20A2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.00006/1 (TOMMO)
    HGVS:
    NC_000008.11:g.42417873A>G, NC_000008.10:g.42275391A>G, NG_032161.1:g.126966T>C, NM_006749.5:c.1889T>C, NM_006749.4:c.1889T>C, NM_001257180.2:c.1889T>C, NM_001257180.1:c.1889T>C, NM_001257181.2:c.1889T>C, NM_001257181.1:c.1889T>C, XM_006716390.5:c.1748T>C, XM_006716390.4:c.1748T>C, XM_006716390.3:c.1748T>C, XM_006716390.2:c.1748T>C, XM_006716390.1:c.1748T>C, XM_005273613.4:c.1889T>C, XM_005273613.3:c.1889T>C, XM_005273613.2:c.1889T>C, XM_005273613.1:c.1889T>C, XM_017013752.3:c.1478T>C, XM_017013752.2:c.1478T>C, XM_017013752.1:c.1478T>C, XM_017013749.3:c.1748T>C, XM_017013749.2:c.1748T>C, XM_017013749.1:c.1748T>C, XM_024447235.2:c.1889T>C, XM_024447235.1:c.1889T>C, XM_024447236.2:c.1889T>C, XM_024447236.1:c.1889T>C, XM_017013748.2:c.1889T>C, XM_017013748.1:c.1889T>C, XM_024447237.2:c.1748T>C, XM_024447237.1:c.1748T>C, XM_047422123.1:c.1748T>C, XM_047422121.1:c.1889T>C, XM_047422120.1:c.1889T>C, XM_047422122.1:c.1889T>C, XM_047422124.1:c.1748T>C, NP_006740.1:p.Val630Ala, NP_001244109.1:p.Val630Ala, NP_001244110.1:p.Val630Ala, XP_006716453.1:p.Val583Ala, XP_005273670.1:p.Val630Ala, XP_016869241.1:p.Val493Ala, XP_016869238.1:p.Val583Ala, XP_024303003.1:p.Val630Ala, XP_024303004.1:p.Val630Ala, XP_016869237.1:p.Val630Ala, XP_024303005.1:p.Val583Ala, XP_047278079.1:p.Val583Ala, XP_047278077.1:p.Val630Ala, XP_047278076.1:p.Val630Ala, XP_047278078.1:p.Val630Ala, XP_047278080.1:p.Val583Ala

    2.

    rs1488264816 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      8:42472292 (GRCh38)
      8:42329810 (GRCh37)
      Canonical SPDI:
      NC_000008.11:42472291:A:G
      Gene:
      SLC20A2 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.42472292A>G, NC_000008.10:g.42329810A>G, NG_032161.1:g.72547T>C, NM_006749.5:c.99T>C, NM_006749.4:c.99T>C, NM_001257180.2:c.99T>C, NM_001257180.1:c.99T>C, NM_001257181.2:c.99T>C, NM_001257181.1:c.99T>C, XM_006716390.5:c.99T>C, XM_006716390.4:c.99T>C, XM_006716390.3:c.99T>C, XM_006716390.2:c.99T>C, XM_006716390.1:c.99T>C, XM_005273613.4:c.99T>C, XM_005273613.3:c.99T>C, XM_005273613.2:c.99T>C, XM_005273613.1:c.99T>C, XM_017013752.3:c.-448T>C, XM_017013752.2:c.-448T>C, XM_017013752.1:c.-448T>C, XM_017013749.3:c.99T>C, XM_017013749.2:c.99T>C, XM_017013749.1:c.99T>C, XM_024447235.2:c.99T>C, XM_024447235.1:c.99T>C, XM_024447236.2:c.99T>C, XM_024447236.1:c.99T>C, XM_017013748.2:c.99T>C, XM_017013748.1:c.99T>C, XM_024447237.2:c.99T>C, XM_024447237.1:c.99T>C, XM_047422123.1:c.99T>C, XM_047422121.1:c.99T>C, XM_047422120.1:c.99T>C, XM_047422122.1:c.99T>C, XM_047422124.1:c.99T>C

      3.

      rs1486605873 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:42437138 (GRCh38)
        8:42294656 (GRCh37)
        Canonical SPDI:
        NC_000008.11:42437137:C:T
        Gene:
        SLC20A2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000015/4 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        NC_000008.11:g.42437138C>T, NC_000008.10:g.42294656C>T, NG_032161.1:g.107701G>A, NM_006749.5:c.1374G>A, NM_006749.4:c.1374G>A, NM_001257180.2:c.1374G>A, NM_001257180.1:c.1374G>A, NM_001257181.2:c.1374G>A, NM_001257181.1:c.1374G>A, XM_006716390.5:c.1233G>A, XM_006716390.4:c.1233G>A, XM_006716390.3:c.1233G>A, XM_006716390.2:c.1233G>A, XM_006716390.1:c.1233G>A, XM_005273613.4:c.1374G>A, XM_005273613.3:c.1374G>A, XM_005273613.2:c.1374G>A, XM_005273613.1:c.1374G>A, XM_017013752.3:c.963G>A, XM_017013752.2:c.963G>A, XM_017013752.1:c.963G>A, XM_017013749.3:c.1233G>A, XM_017013749.2:c.1233G>A, XM_017013749.1:c.1233G>A, XM_024447235.2:c.1374G>A, XM_024447235.1:c.1374G>A, XM_024447236.2:c.1374G>A, XM_024447236.1:c.1374G>A, XM_017013748.2:c.1374G>A, XM_017013748.1:c.1374G>A, XM_024447237.2:c.1233G>A, XM_024447237.1:c.1233G>A, XM_047422123.1:c.1233G>A, XM_047422121.1:c.1374G>A, XM_047422120.1:c.1374G>A, XM_047422122.1:c.1374G>A, XM_047422124.1:c.1233G>A

        4.

        rs1486349966 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:42472108 (GRCh38)
          8:42329626 (GRCh37)
          Canonical SPDI:
          NC_000008.11:42472107:T:C
          Gene:
          SLC20A2 (Varview)
          Functional Consequence:
          missense_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000056/2 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000008.11:g.42472108T>C, NC_000008.10:g.42329626T>C, NG_032161.1:g.72731A>G, NM_006749.5:c.283A>G, NM_006749.4:c.283A>G, NM_001257180.2:c.283A>G, NM_001257180.1:c.283A>G, NM_001257181.2:c.283A>G, NM_001257181.1:c.283A>G, XM_006716390.5:c.283A>G, XM_006716390.4:c.283A>G, XM_006716390.3:c.283A>G, XM_006716390.2:c.283A>G, XM_006716390.1:c.283A>G, XM_005273613.4:c.283A>G, XM_005273613.3:c.283A>G, XM_005273613.2:c.283A>G, XM_005273613.1:c.283A>G, XM_017013752.3:c.-264A>G, XM_017013752.2:c.-264A>G, XM_017013752.1:c.-264A>G, XM_017013749.3:c.283A>G, XM_017013749.2:c.283A>G, XM_017013749.1:c.283A>G, XM_024447235.2:c.283A>G, XM_024447235.1:c.283A>G, XM_024447236.2:c.283A>G, XM_024447236.1:c.283A>G, XM_017013748.2:c.283A>G, XM_017013748.1:c.283A>G, XM_024447237.2:c.283A>G, XM_024447237.1:c.283A>G, XM_047422123.1:c.283A>G, XM_047422121.1:c.283A>G, XM_047422120.1:c.283A>G, XM_047422122.1:c.283A>G, XM_047422124.1:c.283A>G, NP_006740.1:p.Met95Val, NP_001244109.1:p.Met95Val, NP_001244110.1:p.Met95Val, XP_006716453.1:p.Met95Val, XP_005273670.1:p.Met95Val, XP_016869238.1:p.Met95Val, XP_024303003.1:p.Met95Val, XP_024303004.1:p.Met95Val, XP_016869237.1:p.Met95Val, XP_024303005.1:p.Met95Val, XP_047278079.1:p.Met95Val, XP_047278077.1:p.Met95Val, XP_047278076.1:p.Met95Val, XP_047278078.1:p.Met95Val, XP_047278080.1:p.Met95Val

          5.

          rs1485119662 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            8:42437526 (GRCh38)
            8:42295044 (GRCh37)
            Canonical SPDI:
            NC_000008.11:42437525:C:A
            Gene:
            SLC20A2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            NC_000008.11:g.42437526C>A, NC_000008.10:g.42295044C>A, NG_032161.1:g.107313G>T, NM_006749.5:c.986G>T, NM_006749.4:c.986G>T, NM_001257180.2:c.986G>T, NM_001257180.1:c.986G>T, NM_001257181.2:c.986G>T, NM_001257181.1:c.986G>T, XM_006716390.5:c.845G>T, XM_006716390.4:c.845G>T, XM_006716390.3:c.845G>T, XM_006716390.2:c.845G>T, XM_006716390.1:c.845G>T, XM_005273613.4:c.986G>T, XM_005273613.3:c.986G>T, XM_005273613.2:c.986G>T, XM_005273613.1:c.986G>T, XM_017013752.3:c.575G>T, XM_017013752.2:c.575G>T, XM_017013752.1:c.575G>T, XM_017013749.3:c.845G>T, XM_017013749.2:c.845G>T, XM_017013749.1:c.845G>T, XM_024447235.2:c.986G>T, XM_024447235.1:c.986G>T, XM_024447236.2:c.986G>T, XM_024447236.1:c.986G>T, XM_017013748.2:c.986G>T, XM_017013748.1:c.986G>T, XM_024447237.2:c.845G>T, XM_024447237.1:c.845G>T, XM_047422123.1:c.845G>T, XM_047422121.1:c.986G>T, XM_047422120.1:c.986G>T, XM_047422122.1:c.986G>T, XM_047422124.1:c.845G>T, NP_006740.1:p.Gly329Val, NP_001244109.1:p.Gly329Val, NP_001244110.1:p.Gly329Val, XP_006716453.1:p.Gly282Val, XP_005273670.1:p.Gly329Val, XP_016869241.1:p.Gly192Val, XP_016869238.1:p.Gly282Val, XP_024303003.1:p.Gly329Val, XP_024303004.1:p.Gly329Val, XP_016869237.1:p.Gly329Val, XP_024303005.1:p.Gly282Val, XP_047278079.1:p.Gly282Val, XP_047278077.1:p.Gly329Val, XP_047278076.1:p.Gly329Val, XP_047278078.1:p.Gly329Val, XP_047278080.1:p.Gly282Val

            6.

            rs1484831902 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:42437071 (GRCh38)
              8:42294589 (GRCh37)
              Canonical SPDI:
              NC_000008.11:42437070:G:A
              Gene:
              SLC20A2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.42437071G>A, NC_000008.10:g.42294589G>A, NG_032161.1:g.107768C>T, NM_006749.5:c.1441C>T, NM_006749.4:c.1441C>T, NM_001257180.2:c.1441C>T, NM_001257180.1:c.1441C>T, NM_001257181.2:c.1441C>T, NM_001257181.1:c.1441C>T, XM_006716390.5:c.1300C>T, XM_006716390.4:c.1300C>T, XM_006716390.3:c.1300C>T, XM_006716390.2:c.1300C>T, XM_006716390.1:c.1300C>T, XM_005273613.4:c.1441C>T, XM_005273613.3:c.1441C>T, XM_005273613.2:c.1441C>T, XM_005273613.1:c.1441C>T, XM_017013752.3:c.1030C>T, XM_017013752.2:c.1030C>T, XM_017013752.1:c.1030C>T, XM_017013749.3:c.1300C>T, XM_017013749.2:c.1300C>T, XM_017013749.1:c.1300C>T, XM_024447235.2:c.1441C>T, XM_024447235.1:c.1441C>T, XM_024447236.2:c.1441C>T, XM_024447236.1:c.1441C>T, XM_017013748.2:c.1441C>T, XM_017013748.1:c.1441C>T, XM_024447237.2:c.1300C>T, XM_024447237.1:c.1300C>T, XM_047422123.1:c.1300C>T, XM_047422121.1:c.1441C>T, XM_047422120.1:c.1441C>T, XM_047422122.1:c.1441C>T, XM_047422124.1:c.1300C>T, NP_006740.1:p.Pro481Ser, NP_001244109.1:p.Pro481Ser, NP_001244110.1:p.Pro481Ser, XP_006716453.1:p.Pro434Ser, XP_005273670.1:p.Pro481Ser, XP_016869241.1:p.Pro344Ser, XP_016869238.1:p.Pro434Ser, XP_024303003.1:p.Pro481Ser, XP_024303004.1:p.Pro481Ser, XP_016869237.1:p.Pro481Ser, XP_024303005.1:p.Pro434Ser, XP_047278079.1:p.Pro434Ser, XP_047278077.1:p.Pro481Ser, XP_047278076.1:p.Pro481Ser, XP_047278078.1:p.Pro481Ser, XP_047278080.1:p.Pro434Ser

              7.

              rs1484532440 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                8:42439521 (GRCh38)
                8:42297039 (GRCh37)
                Canonical SPDI:
                NC_000008.11:42439520:G:A,NC_000008.11:42439520:G:C
                Gene:
                SLC20A2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000049/2 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000008.11:g.42439521G>A, NC_000008.11:g.42439521G>C, NC_000008.10:g.42297039G>A, NC_000008.10:g.42297039G>C, NG_032161.1:g.105318C>T, NG_032161.1:g.105318C>G, NM_006749.5:c.863C>T, NM_006749.5:c.863C>G, NM_006749.4:c.863C>T, NM_006749.4:c.863C>G, NM_001257180.2:c.863C>T, NM_001257180.2:c.863C>G, NM_001257180.1:c.863C>T, NM_001257180.1:c.863C>G, NM_001257181.2:c.863C>T, NM_001257181.2:c.863C>G, NM_001257181.1:c.863C>T, NM_001257181.1:c.863C>G, XM_006716390.5:c.722C>T, XM_006716390.5:c.722C>G, XM_006716390.4:c.722C>T, XM_006716390.4:c.722C>G, XM_006716390.3:c.722C>T, XM_006716390.3:c.722C>G, XM_006716390.2:c.722C>T, XM_006716390.2:c.722C>G, XM_006716390.1:c.722C>T, XM_006716390.1:c.722C>G, XM_005273613.4:c.863C>T, XM_005273613.4:c.863C>G, XM_005273613.3:c.863C>T, XM_005273613.3:c.863C>G, XM_005273613.2:c.863C>T, XM_005273613.2:c.863C>G, XM_005273613.1:c.863C>T, XM_005273613.1:c.863C>G, XM_017013752.3:c.452C>T, XM_017013752.3:c.452C>G, XM_017013752.2:c.452C>T, XM_017013752.2:c.452C>G, XM_017013752.1:c.452C>T, XM_017013752.1:c.452C>G, XM_017013749.3:c.722C>T, XM_017013749.3:c.722C>G, XM_017013749.2:c.722C>T, XM_017013749.2:c.722C>G, XM_017013749.1:c.722C>T, XM_017013749.1:c.722C>G, XM_024447235.2:c.863C>T, XM_024447235.2:c.863C>G, XM_024447235.1:c.863C>T, XM_024447235.1:c.863C>G, XM_024447236.2:c.863C>T, XM_024447236.2:c.863C>G, XM_024447236.1:c.863C>T, XM_024447236.1:c.863C>G, XM_017013748.2:c.863C>T, XM_017013748.2:c.863C>G, XM_017013748.1:c.863C>T, XM_017013748.1:c.863C>G, XM_024447237.2:c.722C>T, XM_024447237.2:c.722C>G, XM_024447237.1:c.722C>T, XM_024447237.1:c.722C>G, XM_047422123.1:c.722C>T, XM_047422123.1:c.722C>G, XM_047422121.1:c.863C>T, XM_047422121.1:c.863C>G, XM_047422120.1:c.863C>T, XM_047422120.1:c.863C>G, XM_047422122.1:c.863C>T, XM_047422122.1:c.863C>G, XM_047422124.1:c.722C>T, XM_047422124.1:c.722C>G, NP_006740.1:p.Thr288Met, NP_006740.1:p.Thr288Arg, NP_001244109.1:p.Thr288Met, NP_001244109.1:p.Thr288Arg, NP_001244110.1:p.Thr288Met, NP_001244110.1:p.Thr288Arg, XP_006716453.1:p.Thr241Met, XP_006716453.1:p.Thr241Arg, XP_005273670.1:p.Thr288Met, XP_005273670.1:p.Thr288Arg, XP_016869241.1:p.Thr151Met, XP_016869241.1:p.Thr151Arg, XP_016869238.1:p.Thr241Met, XP_016869238.1:p.Thr241Arg, XP_024303003.1:p.Thr288Met, XP_024303003.1:p.Thr288Arg, XP_024303004.1:p.Thr288Met, XP_024303004.1:p.Thr288Arg, XP_016869237.1:p.Thr288Met, XP_016869237.1:p.Thr288Arg, XP_024303005.1:p.Thr241Met, XP_024303005.1:p.Thr241Arg, XP_047278079.1:p.Thr241Met, XP_047278079.1:p.Thr241Arg, XP_047278077.1:p.Thr288Met, XP_047278077.1:p.Thr288Arg, XP_047278076.1:p.Thr288Met, XP_047278076.1:p.Thr288Arg, XP_047278078.1:p.Thr288Met, XP_047278078.1:p.Thr288Arg, XP_047278080.1:p.Thr241Met, XP_047278080.1:p.Thr241Arg

                8.

                rs1484483677 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:42459897 (GRCh38)
                  8:42317415 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:42459896:T:C
                  Gene:
                  SLC20A2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.42459897T>C, NC_000008.10:g.42317415T>C, NG_032161.1:g.84942A>G, NM_006749.5:c.612A>G, NM_006749.4:c.612A>G, NM_001257180.2:c.612A>G, NM_001257180.1:c.612A>G, NM_001257181.2:c.612A>G, NM_001257181.1:c.612A>G, XM_006716390.5:c.471A>G, XM_006716390.4:c.471A>G, XM_006716390.3:c.471A>G, XM_006716390.2:c.471A>G, XM_006716390.1:c.471A>G, XM_005273613.4:c.612A>G, XM_005273613.3:c.612A>G, XM_005273613.2:c.612A>G, XM_005273613.1:c.612A>G, XM_017013752.3:c.201A>G, XM_017013752.2:c.201A>G, XM_017013752.1:c.201A>G, XM_017013749.3:c.471A>G, XM_017013749.2:c.471A>G, XM_017013749.1:c.471A>G, XM_024447235.2:c.612A>G, XM_024447235.1:c.612A>G, XM_024447236.2:c.612A>G, XM_024447236.1:c.612A>G, XM_017013748.2:c.612A>G, XM_017013748.1:c.612A>G, XM_024447237.2:c.471A>G, XM_024447237.1:c.471A>G, XM_047422123.1:c.471A>G, XM_047422121.1:c.612A>G, XM_047422120.1:c.612A>G, XM_047422122.1:c.612A>G, XM_047422124.1:c.471A>G

                  9.

                  rs1481755490 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:42439472 (GRCh38)
                    8:42296990 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:42439471:G:A
                    Gene:
                    SLC20A2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000008.11:g.42439472G>A, NC_000008.10:g.42296990G>A, NG_032161.1:g.105367C>T, NM_006749.5:c.912C>T, NM_006749.4:c.912C>T, NM_001257180.2:c.912C>T, NM_001257180.1:c.912C>T, NM_001257181.2:c.912C>T, NM_001257181.1:c.912C>T, XM_006716390.5:c.771C>T, XM_006716390.4:c.771C>T, XM_006716390.3:c.771C>T, XM_006716390.2:c.771C>T, XM_006716390.1:c.771C>T, XM_005273613.4:c.912C>T, XM_005273613.3:c.912C>T, XM_005273613.2:c.912C>T, XM_005273613.1:c.912C>T, XM_017013752.3:c.501C>T, XM_017013752.2:c.501C>T, XM_017013752.1:c.501C>T, XM_017013749.3:c.771C>T, XM_017013749.2:c.771C>T, XM_017013749.1:c.771C>T, XM_024447235.2:c.912C>T, XM_024447235.1:c.912C>T, XM_024447236.2:c.912C>T, XM_024447236.1:c.912C>T, XM_017013748.2:c.912C>T, XM_017013748.1:c.912C>T, XM_024447237.2:c.771C>T, XM_024447237.1:c.771C>T, XM_047422123.1:c.771C>T, XM_047422121.1:c.912C>T, XM_047422120.1:c.912C>T, XM_047422122.1:c.912C>T, XM_047422124.1:c.771C>T

                    10.

                    rs1479493634 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      8:42437094 (GRCh38)
                      8:42294612 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:42437093:T:A
                      Gene:
                      SLC20A2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000008.11:g.42437094T>A, NC_000008.10:g.42294612T>A, NG_032161.1:g.107745A>T, NM_006749.5:c.1418A>T, NM_006749.4:c.1418A>T, NM_001257180.2:c.1418A>T, NM_001257180.1:c.1418A>T, NM_001257181.2:c.1418A>T, NM_001257181.1:c.1418A>T, XM_006716390.5:c.1277A>T, XM_006716390.4:c.1277A>T, XM_006716390.3:c.1277A>T, XM_006716390.2:c.1277A>T, XM_006716390.1:c.1277A>T, XM_005273613.4:c.1418A>T, XM_005273613.3:c.1418A>T, XM_005273613.2:c.1418A>T, XM_005273613.1:c.1418A>T, XM_017013752.3:c.1007A>T, XM_017013752.2:c.1007A>T, XM_017013752.1:c.1007A>T, XM_017013749.3:c.1277A>T, XM_017013749.2:c.1277A>T, XM_017013749.1:c.1277A>T, XM_024447235.2:c.1418A>T, XM_024447235.1:c.1418A>T, XM_024447236.2:c.1418A>T, XM_024447236.1:c.1418A>T, XM_017013748.2:c.1418A>T, XM_017013748.1:c.1418A>T, XM_024447237.2:c.1277A>T, XM_024447237.1:c.1277A>T, XM_047422123.1:c.1277A>T, XM_047422121.1:c.1418A>T, XM_047422120.1:c.1418A>T, XM_047422122.1:c.1418A>T, XM_047422124.1:c.1277A>T, NP_006740.1:p.Glu473Val, NP_001244109.1:p.Glu473Val, NP_001244110.1:p.Glu473Val, XP_006716453.1:p.Glu426Val, XP_005273670.1:p.Glu473Val, XP_016869241.1:p.Glu336Val, XP_016869238.1:p.Glu426Val, XP_024303003.1:p.Glu473Val, XP_024303004.1:p.Glu473Val, XP_016869237.1:p.Glu473Val, XP_024303005.1:p.Glu426Val, XP_047278079.1:p.Glu426Val, XP_047278077.1:p.Glu473Val, XP_047278076.1:p.Glu473Val, XP_047278078.1:p.Glu473Val, XP_047278080.1:p.Glu426Val

                      11.

                      rs1477753053 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:42437191 (GRCh38)
                        8:42294709 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:42437190:C:T
                        Gene:
                        SLC20A2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000008.11:g.42437191C>T, NC_000008.10:g.42294709C>T, NG_032161.1:g.107648G>A, NM_006749.5:c.1321G>A, NM_006749.4:c.1321G>A, NM_001257180.2:c.1321G>A, NM_001257180.1:c.1321G>A, NM_001257181.2:c.1321G>A, NM_001257181.1:c.1321G>A, XM_006716390.5:c.1180G>A, XM_006716390.4:c.1180G>A, XM_006716390.3:c.1180G>A, XM_006716390.2:c.1180G>A, XM_006716390.1:c.1180G>A, XM_005273613.4:c.1321G>A, XM_005273613.3:c.1321G>A, XM_005273613.2:c.1321G>A, XM_005273613.1:c.1321G>A, XM_017013752.3:c.910G>A, XM_017013752.2:c.910G>A, XM_017013752.1:c.910G>A, XM_017013749.3:c.1180G>A, XM_017013749.2:c.1180G>A, XM_017013749.1:c.1180G>A, XM_024447235.2:c.1321G>A, XM_024447235.1:c.1321G>A, XM_024447236.2:c.1321G>A, XM_024447236.1:c.1321G>A, XM_017013748.2:c.1321G>A, XM_017013748.1:c.1321G>A, XM_024447237.2:c.1180G>A, XM_024447237.1:c.1180G>A, XM_047422123.1:c.1180G>A, XM_047422121.1:c.1321G>A, XM_047422120.1:c.1321G>A, XM_047422122.1:c.1321G>A, XM_047422124.1:c.1180G>A, NP_006740.1:p.Ala441Thr, NP_001244109.1:p.Ala441Thr, NP_001244110.1:p.Ala441Thr, XP_006716453.1:p.Ala394Thr, XP_005273670.1:p.Ala441Thr, XP_016869241.1:p.Ala304Thr, XP_016869238.1:p.Ala394Thr, XP_024303003.1:p.Ala441Thr, XP_024303004.1:p.Ala441Thr, XP_016869237.1:p.Ala441Thr, XP_024303005.1:p.Ala394Thr, XP_047278079.1:p.Ala394Thr, XP_047278077.1:p.Ala441Thr, XP_047278076.1:p.Ala441Thr, XP_047278078.1:p.Ala441Thr, XP_047278080.1:p.Ala394Thr

                        12.

                        rs1477069804 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:42430117 (GRCh38)
                          8:42287635 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:42430116:C:T
                          Gene:
                          SLC20A2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000047/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.42430117C>T, NC_000008.10:g.42287635C>T, NG_032161.1:g.114722G>A, NM_006749.5:c.1656G>A, NM_006749.4:c.1656G>A, NM_001257180.2:c.1656G>A, NM_001257180.1:c.1656G>A, NM_001257181.2:c.1656G>A, NM_001257181.1:c.1656G>A, XM_006716390.5:c.1515G>A, XM_006716390.4:c.1515G>A, XM_006716390.3:c.1515G>A, XM_006716390.2:c.1515G>A, XM_006716390.1:c.1515G>A, XM_005273613.4:c.1656G>A, XM_005273613.3:c.1656G>A, XM_005273613.2:c.1656G>A, XM_005273613.1:c.1656G>A, XM_017013752.3:c.1245G>A, XM_017013752.2:c.1245G>A, XM_017013752.1:c.1245G>A, XM_017013749.3:c.1515G>A, XM_017013749.2:c.1515G>A, XM_017013749.1:c.1515G>A, XM_024447235.2:c.1656G>A, XM_024447235.1:c.1656G>A, XM_024447236.2:c.1656G>A, XM_024447236.1:c.1656G>A, XM_017013748.2:c.1656G>A, XM_017013748.1:c.1656G>A, XM_024447237.2:c.1515G>A, XM_024447237.1:c.1515G>A, XM_047422123.1:c.1515G>A, XM_047422121.1:c.1656G>A, XM_047422120.1:c.1656G>A, XM_047422122.1:c.1656G>A, XM_047422124.1:c.1515G>A

                          13.

                          rs1475349657 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:42430087 (GRCh38)
                            8:42287605 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:42430086:G:A
                            Gene:
                            SLC20A2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000008.11:g.42430087G>A, NC_000008.10:g.42287605G>A, NG_032161.1:g.114752C>T, NM_006749.5:c.1686C>T, NM_006749.4:c.1686C>T, NM_001257180.2:c.1686C>T, NM_001257180.1:c.1686C>T, NM_001257181.2:c.1686C>T, NM_001257181.1:c.1686C>T, XM_006716390.5:c.1545C>T, XM_006716390.4:c.1545C>T, XM_006716390.3:c.1545C>T, XM_006716390.2:c.1545C>T, XM_006716390.1:c.1545C>T, XM_005273613.4:c.1686C>T, XM_005273613.3:c.1686C>T, XM_005273613.2:c.1686C>T, XM_005273613.1:c.1686C>T, XM_017013752.3:c.1275C>T, XM_017013752.2:c.1275C>T, XM_017013752.1:c.1275C>T, XM_017013749.3:c.1545C>T, XM_017013749.2:c.1545C>T, XM_017013749.1:c.1545C>T, XM_024447235.2:c.1686C>T, XM_024447235.1:c.1686C>T, XM_024447236.2:c.1686C>T, XM_024447236.1:c.1686C>T, XM_017013748.2:c.1686C>T, XM_017013748.1:c.1686C>T, XM_024447237.2:c.1545C>T, XM_024447237.1:c.1545C>T, XM_047422123.1:c.1545C>T, XM_047422121.1:c.1686C>T, XM_047422120.1:c.1686C>T, XM_047422122.1:c.1686C>T, XM_047422124.1:c.1545C>T

                            14.

                            rs1474069766 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:42437006 (GRCh38)
                              8:42294524 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:42437005:G:A
                              Gene:
                              SLC20A2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000008.11:g.42437006G>A, NC_000008.10:g.42294524G>A, NG_032161.1:g.107833C>T, NM_006749.5:c.1506C>T, NM_006749.4:c.1506C>T, NM_001257180.2:c.1506C>T, NM_001257180.1:c.1506C>T, NM_001257181.2:c.1506C>T, NM_001257181.1:c.1506C>T, XM_006716390.5:c.1365C>T, XM_006716390.4:c.1365C>T, XM_006716390.3:c.1365C>T, XM_006716390.2:c.1365C>T, XM_006716390.1:c.1365C>T, XM_005273613.4:c.1506C>T, XM_005273613.3:c.1506C>T, XM_005273613.2:c.1506C>T, XM_005273613.1:c.1506C>T, XM_017013752.3:c.1095C>T, XM_017013752.2:c.1095C>T, XM_017013752.1:c.1095C>T, XM_017013749.3:c.1365C>T, XM_017013749.2:c.1365C>T, XM_017013749.1:c.1365C>T, XM_024447235.2:c.1506C>T, XM_024447235.1:c.1506C>T, XM_024447236.2:c.1506C>T, XM_024447236.1:c.1506C>T, XM_017013748.2:c.1506C>T, XM_017013748.1:c.1506C>T, XM_024447237.2:c.1365C>T, XM_024447237.1:c.1365C>T, XM_047422123.1:c.1365C>T, XM_047422121.1:c.1506C>T, XM_047422120.1:c.1506C>T, XM_047422122.1:c.1506C>T, XM_047422124.1:c.1365C>T

                              15.

                              rs1470682552 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:42437270 (GRCh38)
                                8:42294788 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:42437269:C:T
                                Gene:
                                SLC20A2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000084/1 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000026/7 (TOPMED)
                                T=0.000032/8 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.42437270C>T, NC_000008.10:g.42294788C>T, NG_032161.1:g.107569G>A, NM_006749.5:c.1242G>A, NM_006749.4:c.1242G>A, NM_001257180.2:c.1242G>A, NM_001257180.1:c.1242G>A, NM_001257181.2:c.1242G>A, NM_001257181.1:c.1242G>A, XM_006716390.5:c.1101G>A, XM_006716390.4:c.1101G>A, XM_006716390.3:c.1101G>A, XM_006716390.2:c.1101G>A, XM_006716390.1:c.1101G>A, XM_005273613.4:c.1242G>A, XM_005273613.3:c.1242G>A, XM_005273613.2:c.1242G>A, XM_005273613.1:c.1242G>A, XM_017013752.3:c.831G>A, XM_017013752.2:c.831G>A, XM_017013752.1:c.831G>A, XM_017013749.3:c.1101G>A, XM_017013749.2:c.1101G>A, XM_017013749.1:c.1101G>A, XM_024447235.2:c.1242G>A, XM_024447235.1:c.1242G>A, XM_024447236.2:c.1242G>A, XM_024447236.1:c.1242G>A, XM_017013748.2:c.1242G>A, XM_017013748.1:c.1242G>A, XM_024447237.2:c.1101G>A, XM_024447237.1:c.1101G>A, XM_047422123.1:c.1101G>A, XM_047422121.1:c.1242G>A, XM_047422120.1:c.1242G>A, XM_047422122.1:c.1242G>A, XM_047422124.1:c.1101G>A

                                16.

                                rs1469371046 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:42444692 (GRCh38)
                                  8:42302210 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:42444691:A:G
                                  Gene:
                                  SLC20A2 (Varview)
                                  Functional Consequence:
                                  synonymous_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_000008.11:g.42444692A>G, NC_000008.10:g.42302210A>G, NG_032161.1:g.100147T>C, NM_006749.5:c.684T>C, NM_006749.4:c.684T>C, NM_001257180.2:c.684T>C, NM_001257180.1:c.684T>C, NM_001257181.2:c.684T>C, NM_001257181.1:c.684T>C, XM_006716390.5:c.543T>C, XM_006716390.4:c.543T>C, XM_006716390.3:c.543T>C, XM_006716390.2:c.543T>C, XM_006716390.1:c.543T>C, XM_005273613.4:c.684T>C, XM_005273613.3:c.684T>C, XM_005273613.2:c.684T>C, XM_005273613.1:c.684T>C, XM_017013752.3:c.273T>C, XM_017013752.2:c.273T>C, XM_017013752.1:c.273T>C, XM_017013749.3:c.543T>C, XM_017013749.2:c.543T>C, XM_017013749.1:c.543T>C, XM_024447235.2:c.684T>C, XM_024447235.1:c.684T>C, XM_024447236.2:c.684T>C, XM_024447236.1:c.684T>C, XM_017013748.2:c.684T>C, XM_017013748.1:c.684T>C, XM_024447237.2:c.543T>C, XM_024447237.1:c.543T>C, XM_047422123.1:c.543T>C, XM_047422121.1:c.684T>C, XM_047422120.1:c.684T>C, XM_047422122.1:c.684T>C, XM_047422124.1:c.543T>C

                                  17.

                                  rs1465059269 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    8:42437026 (GRCh38)
                                    8:42294544 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:42437025:A:T
                                    Gene:
                                    SLC20A2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000008.11:g.42437026A>T, NC_000008.10:g.42294544A>T, NG_032161.1:g.107813T>A, NM_006749.5:c.1486T>A, NM_006749.4:c.1486T>A, NM_001257180.2:c.1486T>A, NM_001257180.1:c.1486T>A, NM_001257181.2:c.1486T>A, NM_001257181.1:c.1486T>A, XM_006716390.5:c.1345T>A, XM_006716390.4:c.1345T>A, XM_006716390.3:c.1345T>A, XM_006716390.2:c.1345T>A, XM_006716390.1:c.1345T>A, XM_005273613.4:c.1486T>A, XM_005273613.3:c.1486T>A, XM_005273613.2:c.1486T>A, XM_005273613.1:c.1486T>A, XM_017013752.3:c.1075T>A, XM_017013752.2:c.1075T>A, XM_017013752.1:c.1075T>A, XM_017013749.3:c.1345T>A, XM_017013749.2:c.1345T>A, XM_017013749.1:c.1345T>A, XM_024447235.2:c.1486T>A, XM_024447235.1:c.1486T>A, XM_024447236.2:c.1486T>A, XM_024447236.1:c.1486T>A, XM_017013748.2:c.1486T>A, XM_017013748.1:c.1486T>A, XM_024447237.2:c.1345T>A, XM_024447237.1:c.1345T>A, XM_047422123.1:c.1345T>A, XM_047422121.1:c.1486T>A, XM_047422120.1:c.1486T>A, XM_047422122.1:c.1486T>A, XM_047422124.1:c.1345T>A, NP_006740.1:p.Cys496Ser, NP_001244109.1:p.Cys496Ser, NP_001244110.1:p.Cys496Ser, XP_006716453.1:p.Cys449Ser, XP_005273670.1:p.Cys496Ser, XP_016869241.1:p.Cys359Ser, XP_016869238.1:p.Cys449Ser, XP_024303003.1:p.Cys496Ser, XP_024303004.1:p.Cys496Ser, XP_016869237.1:p.Cys496Ser, XP_024303005.1:p.Cys449Ser, XP_047278079.1:p.Cys449Ser, XP_047278077.1:p.Cys496Ser, XP_047278076.1:p.Cys496Ser, XP_047278078.1:p.Cys496Ser, XP_047278080.1:p.Cys449Ser

                                    18.

                                    rs1465003120 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:42465913 (GRCh38)
                                      8:42323431 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:42465912:G:A
                                      Gene:
                                      SLC20A2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000031/1 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      A=0.00002/5 (GnomAD_exomes)
                                      A=0.000021/3 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1463457442 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:42437292 (GRCh38)
                                        8:42294810 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:42437291:G:A
                                        Gene:
                                        SLC20A2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.42437292G>A, NC_000008.10:g.42294810G>A, NG_032161.1:g.107547C>T, NM_006749.5:c.1220C>T, NM_006749.4:c.1220C>T, NM_001257180.2:c.1220C>T, NM_001257180.1:c.1220C>T, NM_001257181.2:c.1220C>T, NM_001257181.1:c.1220C>T, XM_006716390.5:c.1079C>T, XM_006716390.4:c.1079C>T, XM_006716390.3:c.1079C>T, XM_006716390.2:c.1079C>T, XM_006716390.1:c.1079C>T, XM_005273613.4:c.1220C>T, XM_005273613.3:c.1220C>T, XM_005273613.2:c.1220C>T, XM_005273613.1:c.1220C>T, XM_017013752.3:c.809C>T, XM_017013752.2:c.809C>T, XM_017013752.1:c.809C>T, XM_017013749.3:c.1079C>T, XM_017013749.2:c.1079C>T, XM_017013749.1:c.1079C>T, XM_024447235.2:c.1220C>T, XM_024447235.1:c.1220C>T, XM_024447236.2:c.1220C>T, XM_024447236.1:c.1220C>T, XM_017013748.2:c.1220C>T, XM_017013748.1:c.1220C>T, XM_024447237.2:c.1079C>T, XM_024447237.1:c.1079C>T, XM_047422123.1:c.1079C>T, XM_047422121.1:c.1220C>T, XM_047422120.1:c.1220C>T, XM_047422122.1:c.1220C>T, XM_047422124.1:c.1079C>T, NP_006740.1:p.Ser407Leu, NP_001244109.1:p.Ser407Leu, NP_001244110.1:p.Ser407Leu, XP_006716453.1:p.Ser360Leu, XP_005273670.1:p.Ser407Leu, XP_016869241.1:p.Ser270Leu, XP_016869238.1:p.Ser360Leu, XP_024303003.1:p.Ser407Leu, XP_024303004.1:p.Ser407Leu, XP_016869237.1:p.Ser407Leu, XP_024303005.1:p.Ser360Leu, XP_047278079.1:p.Ser360Leu, XP_047278077.1:p.Ser407Leu, XP_047278076.1:p.Ser407Leu, XP_047278078.1:p.Ser407Leu, XP_047278080.1:p.Ser360Leu

                                        20.

                                        rs1462676972 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:42472219 (GRCh38)
                                          8:42329737 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:42472218:C:T
                                          Gene:
                                          SLC20A2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.42472219C>T, NC_000008.10:g.42329737C>T, NG_032161.1:g.72620G>A, NM_006749.5:c.172G>A, NM_006749.4:c.172G>A, NM_001257180.2:c.172G>A, NM_001257180.1:c.172G>A, NM_001257181.2:c.172G>A, NM_001257181.1:c.172G>A, XM_006716390.5:c.172G>A, XM_006716390.4:c.172G>A, XM_006716390.3:c.172G>A, XM_006716390.2:c.172G>A, XM_006716390.1:c.172G>A, XM_005273613.4:c.172G>A, XM_005273613.3:c.172G>A, XM_005273613.2:c.172G>A, XM_005273613.1:c.172G>A, XM_017013752.3:c.-375G>A, XM_017013752.2:c.-375G>A, XM_017013752.1:c.-375G>A, XM_017013749.3:c.172G>A, XM_017013749.2:c.172G>A, XM_017013749.1:c.172G>A, XM_024447235.2:c.172G>A, XM_024447235.1:c.172G>A, XM_024447236.2:c.172G>A, XM_024447236.1:c.172G>A, XM_017013748.2:c.172G>A, XM_017013748.1:c.172G>A, XM_024447237.2:c.172G>A, XM_024447237.1:c.172G>A, XM_047422123.1:c.172G>A, XM_047422121.1:c.172G>A, XM_047422120.1:c.172G>A, XM_047422122.1:c.172G>A, XM_047422124.1:c.172G>A, NP_006740.1:p.Gly58Ser, NP_001244109.1:p.Gly58Ser, NP_001244110.1:p.Gly58Ser, XP_006716453.1:p.Gly58Ser, XP_005273670.1:p.Gly58Ser, XP_016869238.1:p.Gly58Ser, XP_024303003.1:p.Gly58Ser, XP_024303004.1:p.Gly58Ser, XP_016869237.1:p.Gly58Ser, XP_024303005.1:p.Gly58Ser, XP_047278079.1:p.Gly58Ser, XP_047278077.1:p.Gly58Ser, XP_047278076.1:p.Gly58Ser, XP_047278078.1:p.Gly58Ser, XP_047278080.1:p.Gly58Ser

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