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Items: 1 to 20 of 1000

1.

rs1491003486 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:9262263 (GRCh38)
    1:9322322 (GRCh37)
    Canonical SPDI:
    NC_000001.11:9262262:G:A
    Gene:
    H6PD (Varview)
    Functional Consequence:
    missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.9262263G>A, NC_000001.10:g.9322322G>A, NG_012218.1:g.32460G>A, NM_004285.4:c.950G>A, NM_004285.3:c.950G>A, NM_001282587.2:c.983G>A, NM_001282587.1:c.983G>A, XM_005263540.6:c.977G>A, XM_005263540.5:c.977G>A, XM_005263540.4:c.977G>A, XM_005263540.3:c.977G>A, XM_005263540.2:c.977G>A, XM_005263540.1:c.977G>A, XM_006711052.5:c.950G>A, XM_006711052.4:c.950G>A, XM_006711052.3:c.950G>A, XM_006711052.2:c.950G>A, XM_006711052.1:c.950G>A, XM_017002865.3:c.950G>A, XM_017002865.2:c.950G>A, XM_017002865.1:c.950G>A, XM_017002866.3:c.-61G>A, XM_017002866.2:c.-61G>A, XM_017002866.1:c.-61G>A, XM_047435002.1:c.983G>A, XM_047435005.1:c.950G>A, XM_047435003.1:c.971G>A, NP_004276.2:p.Ser317Asn, NP_001269516.1:p.Ser328Asn, XP_005263597.1:p.Ser326Asn, XP_006711115.1:p.Ser317Asn, XP_016858354.1:p.Ser317Asn, XP_047290958.1:p.Ser328Asn, XP_047290961.1:p.Ser317Asn, XP_047290959.1:p.Ser324Asn

    2.

    rs1488942219 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:9263767 (GRCh38)
      1:9323826 (GRCh37)
      Canonical SPDI:
      NC_000001.11:9263766:C:T
      Gene:
      H6PD (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      T=0.000546/1 (Korea1K)
      HGVS:
      NC_000001.11:g.9263767C>T, NC_000001.10:g.9323826C>T, NG_012218.1:g.33964C>T, NM_004285.4:c.1274C>T, NM_004285.3:c.1274C>T, NM_001282587.2:c.1307C>T, NM_001282587.1:c.1307C>T, XM_005263540.6:c.1301C>T, XM_005263540.5:c.1301C>T, XM_005263540.4:c.1301C>T, XM_005263540.3:c.1301C>T, XM_005263540.2:c.1301C>T, XM_005263540.1:c.1301C>T, XM_006711052.5:c.1274C>T, XM_006711052.4:c.1274C>T, XM_006711052.3:c.1274C>T, XM_006711052.2:c.1274C>T, XM_006711052.1:c.1274C>T, XM_017002865.3:c.1274C>T, XM_017002865.2:c.1274C>T, XM_017002865.1:c.1274C>T, XM_017002866.3:c.206C>T, XM_017002866.2:c.206C>T, XM_017002866.1:c.206C>T, XM_047435002.1:c.1307C>T, XM_047435005.1:c.1274C>T, XM_047435003.1:c.1295C>T, NP_004276.2:p.Ser425Phe, NP_001269516.1:p.Ser436Phe, XP_005263597.1:p.Ser434Phe, XP_006711115.1:p.Ser425Phe, XP_016858354.1:p.Ser425Phe, XP_016858355.1:p.Ser69Phe, XP_047290958.1:p.Ser436Phe, XP_047290961.1:p.Ser425Phe, XP_047290959.1:p.Ser432Phe

      3.

      rs1488794038 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:9262257 (GRCh38)
        1:9322316 (GRCh37)
        Canonical SPDI:
        NC_000001.11:9262256:C:G
        Gene:
        H6PD (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.9262257C>G, NC_000001.10:g.9322316C>G, NG_012218.1:g.32454C>G, NM_004285.4:c.944C>G, NM_004285.3:c.944C>G, NM_001282587.2:c.977C>G, NM_001282587.1:c.977C>G, XM_005263540.6:c.971C>G, XM_005263540.5:c.971C>G, XM_005263540.4:c.971C>G, XM_005263540.3:c.971C>G, XM_005263540.2:c.971C>G, XM_005263540.1:c.971C>G, XM_006711052.5:c.944C>G, XM_006711052.4:c.944C>G, XM_006711052.3:c.944C>G, XM_006711052.2:c.944C>G, XM_006711052.1:c.944C>G, XM_017002865.3:c.944C>G, XM_017002865.2:c.944C>G, XM_017002865.1:c.944C>G, XM_017002866.3:c.-67C>G, XM_017002866.2:c.-67C>G, XM_017002866.1:c.-67C>G, XM_047435002.1:c.977C>G, XM_047435005.1:c.944C>G, XM_047435003.1:c.965C>G, NP_004276.2:p.Ser315Cys, NP_001269516.1:p.Ser326Cys, XP_005263597.1:p.Ser324Cys, XP_006711115.1:p.Ser315Cys, XP_016858354.1:p.Ser315Cys, XP_047290958.1:p.Ser326Cys, XP_047290961.1:p.Ser315Cys, XP_047290959.1:p.Ser322Cys

        4.

        rs1488721994 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:9247051 (GRCh38)
          1:9307110 (GRCh37)
          Canonical SPDI:
          NC_000001.11:9247050:A:G
          Gene:
          H6PD (Varview)
          Functional Consequence:
          missense_variant,genic_upstream_transcript_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_000001.11:g.9247051A>G, NC_000001.10:g.9307110A>G, NG_012218.1:g.17248A>G, NM_004285.4:c.713A>G, NM_004285.3:c.713A>G, NM_001282587.2:c.746A>G, NM_001282587.1:c.746A>G, XM_005263540.6:c.740A>G, XM_005263540.5:c.740A>G, XM_005263540.4:c.740A>G, XM_005263540.3:c.740A>G, XM_005263540.2:c.740A>G, XM_005263540.1:c.740A>G, XM_006711052.5:c.713A>G, XM_006711052.4:c.713A>G, XM_006711052.3:c.713A>G, XM_006711052.2:c.713A>G, XM_006711052.1:c.713A>G, XM_017002865.3:c.713A>G, XM_017002865.2:c.713A>G, XM_017002865.1:c.713A>G, XM_047435002.1:c.746A>G, XM_047435005.1:c.713A>G, XM_047435003.1:c.734A>G, NP_004276.2:p.Glu238Gly, NP_001269516.1:p.Glu249Gly, XP_005263597.1:p.Glu247Gly, XP_006711115.1:p.Glu238Gly, XP_016858354.1:p.Glu238Gly, XP_047290958.1:p.Glu249Gly, XP_047290961.1:p.Glu238Gly, XP_047290959.1:p.Glu245Gly

          5.

          rs1487314796 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:9263911 (GRCh38)
            1:9323970 (GRCh37)
            Canonical SPDI:
            NC_000001.11:9263910:T:G
            Gene:
            H6PD (Varview)
            Functional Consequence:
            missense_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_000001.11:g.9263911T>G, NC_000001.10:g.9323970T>G, NG_012218.1:g.34108T>G, NM_004285.4:c.1418T>G, NM_004285.3:c.1418T>G, NM_001282587.2:c.1451T>G, NM_001282587.1:c.1451T>G, XM_005263540.6:c.1445T>G, XM_005263540.5:c.1445T>G, XM_005263540.4:c.1445T>G, XM_005263540.3:c.1445T>G, XM_005263540.2:c.1445T>G, XM_005263540.1:c.1445T>G, XM_006711052.5:c.1418T>G, XM_006711052.4:c.1418T>G, XM_006711052.3:c.1418T>G, XM_006711052.2:c.1418T>G, XM_006711052.1:c.1418T>G, XM_017002865.3:c.1418T>G, XM_017002865.2:c.1418T>G, XM_017002865.1:c.1418T>G, XM_017002866.3:c.350T>G, XM_017002866.2:c.350T>G, XM_017002866.1:c.350T>G, XM_047435002.1:c.1451T>G, XM_047435005.1:c.1418T>G, XM_047435003.1:c.1439T>G, NP_004276.2:p.Phe473Cys, NP_001269516.1:p.Phe484Cys, XP_005263597.1:p.Phe482Cys, XP_006711115.1:p.Phe473Cys, XP_016858354.1:p.Phe473Cys, XP_016858355.1:p.Phe117Cys, XP_047290958.1:p.Phe484Cys, XP_047290961.1:p.Phe473Cys, XP_047290959.1:p.Phe480Cys

            6.

            rs1486414921 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:9245229 (GRCh38)
              1:9305288 (GRCh37)
              Canonical SPDI:
              NC_000001.11:9245228:A:G
              Gene:
              H6PD (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              HGVS:
              NC_000001.11:g.9245229A>G, NC_000001.10:g.9305288A>G, NG_012218.1:g.15426A>G, NM_004285.4:c.295A>G, NM_004285.3:c.295A>G, NM_001282587.2:c.328A>G, NM_001282587.1:c.328A>G, XM_005263540.6:c.322A>G, XM_005263540.5:c.322A>G, XM_005263540.4:c.322A>G, XM_005263540.3:c.322A>G, XM_005263540.2:c.322A>G, XM_005263540.1:c.322A>G, XM_006711052.5:c.295A>G, XM_006711052.4:c.295A>G, XM_006711052.3:c.295A>G, XM_006711052.2:c.295A>G, XM_006711052.1:c.295A>G, XM_017002865.3:c.295A>G, XM_017002865.2:c.295A>G, XM_017002865.1:c.295A>G, XM_047435002.1:c.328A>G, XM_047435005.1:c.295A>G, XM_047435003.1:c.316A>G, NP_004276.2:p.Lys99Glu, NP_001269516.1:p.Lys110Glu, XP_005263597.1:p.Lys108Glu, XP_006711115.1:p.Lys99Glu, XP_016858354.1:p.Lys99Glu, XP_047290958.1:p.Lys110Glu, XP_047290961.1:p.Lys99Glu, XP_047290959.1:p.Lys106Glu

              7.

              rs1486085781 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                1:9262101 (GRCh38)
                1:9322160 (GRCh37)
                Canonical SPDI:
                NC_000001.11:9262100:T:A
                Gene:
                H6PD (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.9262101T>A, NC_000001.10:g.9322160T>A, NG_012218.1:g.32298T>A, NM_004285.4:c.788T>A, NM_004285.3:c.788T>A, NM_001282587.2:c.821T>A, NM_001282587.1:c.821T>A, XM_005263540.6:c.815T>A, XM_005263540.5:c.815T>A, XM_005263540.4:c.815T>A, XM_005263540.3:c.815T>A, XM_005263540.2:c.815T>A, XM_005263540.1:c.815T>A, XM_006711052.5:c.788T>A, XM_006711052.4:c.788T>A, XM_006711052.3:c.788T>A, XM_006711052.2:c.788T>A, XM_006711052.1:c.788T>A, XM_017002865.3:c.788T>A, XM_017002865.2:c.788T>A, XM_017002865.1:c.788T>A, XM_047435002.1:c.821T>A, XM_047435005.1:c.788T>A, XM_047435003.1:c.809T>A, NP_004276.2:p.Val263Asp, NP_001269516.1:p.Val274Asp, XP_005263597.1:p.Val272Asp, XP_006711115.1:p.Val263Asp, XP_016858354.1:p.Val263Asp, XP_047290958.1:p.Val274Asp, XP_047290961.1:p.Val263Asp, XP_047290959.1:p.Val270Asp

                8.

                rs1484938352 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  1:9264672 (GRCh38)
                  1:9324731 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:9264671:C:A,NC_000001.11:9264671:C:T
                  Gene:
                  H6PD (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.00021/4 (TOMMO)
                  A=0.00034/1 (KOREAN)
                  HGVS:
                  NC_000001.11:g.9264672C>A, NC_000001.11:g.9264672C>T, NC_000001.10:g.9324731C>A, NC_000001.10:g.9324731C>T, NG_012218.1:g.34869C>A, NG_012218.1:g.34869C>T, NM_004285.4:c.2179C>A, NM_004285.4:c.2179C>T, NM_004285.3:c.2179C>A, NM_004285.3:c.2179C>T, NM_001282587.2:c.2212C>A, NM_001282587.2:c.2212C>T, NM_001282587.1:c.2212C>A, NM_001282587.1:c.2212C>T, XM_005263540.6:c.2206C>A, XM_005263540.6:c.2206C>T, XM_005263540.5:c.2206C>A, XM_005263540.5:c.2206C>T, XM_005263540.4:c.2206C>A, XM_005263540.4:c.2206C>T, XM_005263540.3:c.2206C>A, XM_005263540.3:c.2206C>T, XM_005263540.2:c.2206C>A, XM_005263540.2:c.2206C>T, XM_005263540.1:c.2206C>A, XM_005263540.1:c.2206C>T, XM_006711052.5:c.2179C>A, XM_006711052.5:c.2179C>T, XM_006711052.4:c.2179C>A, XM_006711052.4:c.2179C>T, XM_006711052.3:c.2179C>A, XM_006711052.3:c.2179C>T, XM_006711052.2:c.2179C>A, XM_006711052.2:c.2179C>T, XM_006711052.1:c.2179C>A, XM_006711052.1:c.2179C>T, XM_017002865.3:c.2179C>A, XM_017002865.3:c.2179C>T, XM_017002865.2:c.2179C>A, XM_017002865.2:c.2179C>T, XM_017002865.1:c.2179C>A, XM_017002865.1:c.2179C>T, XM_017002866.3:c.1111C>A, XM_017002866.3:c.1111C>T, XM_017002866.2:c.1111C>A, XM_017002866.2:c.1111C>T, XM_017002866.1:c.1111C>A, XM_017002866.1:c.1111C>T, XM_047435002.1:c.2212C>A, XM_047435002.1:c.2212C>T, XM_047435005.1:c.2179C>A, XM_047435005.1:c.2179C>T, XM_047435003.1:c.2200C>A, XM_047435003.1:c.2200C>T, NP_004276.2:p.Arg727Ser, NP_004276.2:p.Arg727Cys, NP_001269516.1:p.Arg738Ser, NP_001269516.1:p.Arg738Cys, XP_005263597.1:p.Arg736Ser, XP_005263597.1:p.Arg736Cys, XP_006711115.1:p.Arg727Ser, XP_006711115.1:p.Arg727Cys, XP_016858354.1:p.Arg727Ser, XP_016858354.1:p.Arg727Cys, XP_016858355.1:p.Arg371Ser, XP_016858355.1:p.Arg371Cys, XP_047290958.1:p.Arg738Ser, XP_047290958.1:p.Arg738Cys, XP_047290961.1:p.Arg727Ser, XP_047290961.1:p.Arg727Cys, XP_047290959.1:p.Arg734Ser, XP_047290959.1:p.Arg734Cys

                  9.

                  rs1482255069 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    1:9244975 (GRCh38)
                    1:9305034 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:9244974:T:A,NC_000001.11:9244974:T:C
                    Gene:
                    H6PD (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    A=0.00006/1 (TOMMO)
                    HGVS:
                    NC_000001.11:g.9244975T>A, NC_000001.11:g.9244975T>C, NC_000001.10:g.9305034T>A, NC_000001.10:g.9305034T>C, NG_012218.1:g.15172T>A, NG_012218.1:g.15172T>C, NM_004285.4:c.41T>A, NM_004285.4:c.41T>C, NM_004285.3:c.41T>A, NM_004285.3:c.41T>C, NM_001282587.2:c.74T>A, NM_001282587.2:c.74T>C, NM_001282587.1:c.74T>A, NM_001282587.1:c.74T>C, XM_005263540.6:c.68T>A, XM_005263540.6:c.68T>C, XM_005263540.5:c.68T>A, XM_005263540.5:c.68T>C, XM_005263540.4:c.68T>A, XM_005263540.4:c.68T>C, XM_005263540.3:c.68T>A, XM_005263540.3:c.68T>C, XM_005263540.2:c.68T>A, XM_005263540.2:c.68T>C, XM_005263540.1:c.68T>A, XM_005263540.1:c.68T>C, XM_006711052.5:c.41T>A, XM_006711052.5:c.41T>C, XM_006711052.4:c.41T>A, XM_006711052.4:c.41T>C, XM_006711052.3:c.41T>A, XM_006711052.3:c.41T>C, XM_006711052.2:c.41T>A, XM_006711052.2:c.41T>C, XM_006711052.1:c.41T>A, XM_006711052.1:c.41T>C, XM_017002865.3:c.41T>A, XM_017002865.3:c.41T>C, XM_017002865.2:c.41T>A, XM_017002865.2:c.41T>C, XM_017002865.1:c.41T>A, XM_017002865.1:c.41T>C, XM_047435002.1:c.74T>A, XM_047435002.1:c.74T>C, XM_047435005.1:c.41T>A, XM_047435005.1:c.41T>C, XM_047435003.1:c.62T>A, XM_047435003.1:c.62T>C, NP_004276.2:p.Leu14Gln, NP_004276.2:p.Leu14Pro, NP_001269516.1:p.Leu25Gln, NP_001269516.1:p.Leu25Pro, XP_005263597.1:p.Leu23Gln, XP_005263597.1:p.Leu23Pro, XP_006711115.1:p.Leu14Gln, XP_006711115.1:p.Leu14Pro, XP_016858354.1:p.Leu14Gln, XP_016858354.1:p.Leu14Pro, XP_047290958.1:p.Leu25Gln, XP_047290958.1:p.Leu25Pro, XP_047290961.1:p.Leu14Gln, XP_047290961.1:p.Leu14Pro, XP_047290959.1:p.Leu21Gln, XP_047290959.1:p.Leu21Pro

                    10.

                    rs1478767588 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:9264253 (GRCh38)
                      1:9324312 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:9264252:T:C
                      Gene:
                      H6PD (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.9264253T>C, NC_000001.10:g.9324312T>C, NG_012218.1:g.34450T>C, NM_004285.4:c.1760T>C, NM_004285.3:c.1760T>C, NM_001282587.2:c.1793T>C, NM_001282587.1:c.1793T>C, XM_005263540.6:c.1787T>C, XM_005263540.5:c.1787T>C, XM_005263540.4:c.1787T>C, XM_005263540.3:c.1787T>C, XM_005263540.2:c.1787T>C, XM_005263540.1:c.1787T>C, XM_006711052.5:c.1760T>C, XM_006711052.4:c.1760T>C, XM_006711052.3:c.1760T>C, XM_006711052.2:c.1760T>C, XM_006711052.1:c.1760T>C, XM_017002865.3:c.1760T>C, XM_017002865.2:c.1760T>C, XM_017002865.1:c.1760T>C, XM_017002866.3:c.692T>C, XM_017002866.2:c.692T>C, XM_017002866.1:c.692T>C, XM_047435002.1:c.1793T>C, XM_047435005.1:c.1760T>C, XM_047435003.1:c.1781T>C, NP_004276.2:p.Leu587Pro, NP_001269516.1:p.Leu598Pro, XP_005263597.1:p.Leu596Pro, XP_006711115.1:p.Leu587Pro, XP_016858354.1:p.Leu587Pro, XP_016858355.1:p.Leu231Pro, XP_047290958.1:p.Leu598Pro, XP_047290961.1:p.Leu587Pro, XP_047290959.1:p.Leu594Pro

                      11.

                      rs1476628014 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:9264280 (GRCh38)
                        1:9324339 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:9264279:T:C
                        Gene:
                        H6PD (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000001.11:g.9264280T>C, NC_000001.10:g.9324339T>C, NG_012218.1:g.34477T>C, NM_004285.4:c.1787T>C, NM_004285.3:c.1787T>C, NM_001282587.2:c.1820T>C, NM_001282587.1:c.1820T>C, XM_005263540.6:c.1814T>C, XM_005263540.5:c.1814T>C, XM_005263540.4:c.1814T>C, XM_005263540.3:c.1814T>C, XM_005263540.2:c.1814T>C, XM_005263540.1:c.1814T>C, XM_006711052.5:c.1787T>C, XM_006711052.4:c.1787T>C, XM_006711052.3:c.1787T>C, XM_006711052.2:c.1787T>C, XM_006711052.1:c.1787T>C, XM_017002865.3:c.1787T>C, XM_017002865.2:c.1787T>C, XM_017002865.1:c.1787T>C, XM_017002866.3:c.719T>C, XM_017002866.2:c.719T>C, XM_017002866.1:c.719T>C, XM_047435002.1:c.1820T>C, XM_047435005.1:c.1787T>C, XM_047435003.1:c.1808T>C, NP_004276.2:p.Val596Ala, NP_001269516.1:p.Val607Ala, XP_005263597.1:p.Val605Ala, XP_006711115.1:p.Val596Ala, XP_016858354.1:p.Val596Ala, XP_016858355.1:p.Val240Ala, XP_047290958.1:p.Val607Ala, XP_047290961.1:p.Val596Ala, XP_047290959.1:p.Val603Ala

                        12.

                        rs1476108133 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:9262191 (GRCh38)
                          1:9322250 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:9262190:A:C
                          Gene:
                          H6PD (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.9262191A>C, NC_000001.10:g.9322250A>C, NG_012218.1:g.32388A>C, NM_004285.4:c.878A>C, NM_004285.3:c.878A>C, NM_001282587.2:c.911A>C, NM_001282587.1:c.911A>C, XM_005263540.6:c.905A>C, XM_005263540.5:c.905A>C, XM_005263540.4:c.905A>C, XM_005263540.3:c.905A>C, XM_005263540.2:c.905A>C, XM_005263540.1:c.905A>C, XM_006711052.5:c.878A>C, XM_006711052.4:c.878A>C, XM_006711052.3:c.878A>C, XM_006711052.2:c.878A>C, XM_006711052.1:c.878A>C, XM_017002865.3:c.878A>C, XM_017002865.2:c.878A>C, XM_017002865.1:c.878A>C, XM_017002866.3:c.-133A>C, XM_017002866.2:c.-133A>C, XM_017002866.1:c.-133A>C, XM_047435002.1:c.911A>C, XM_047435005.1:c.878A>C, XM_047435003.1:c.899A>C, NP_004276.2:p.Lys293Thr, NP_001269516.1:p.Lys304Thr, XP_005263597.1:p.Lys302Thr, XP_006711115.1:p.Lys293Thr, XP_016858354.1:p.Lys293Thr, XP_047290958.1:p.Lys304Thr, XP_047290961.1:p.Lys293Thr, XP_047290959.1:p.Lys300Thr

                          13.

                          rs1475306702 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            1:9263720 (GRCh38)
                            1:9323779 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:9263719:C:A,NC_000001.11:9263719:C:T
                            Gene:
                            H6PD (Varview)
                            Functional Consequence:
                            synonymous_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000028/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000011/3 (TOPMED)
                            C=0.5/1 (SGDP_PRJ)
                            HGVS:
                            NC_000001.11:g.9263720C>A, NC_000001.11:g.9263720C>T, NC_000001.10:g.9323779C>A, NC_000001.10:g.9323779C>T, NG_012218.1:g.33917C>A, NG_012218.1:g.33917C>T, NM_004285.4:c.1227C>A, NM_004285.4:c.1227C>T, NM_004285.3:c.1227C>A, NM_004285.3:c.1227C>T, NM_001282587.2:c.1260C>A, NM_001282587.2:c.1260C>T, NM_001282587.1:c.1260C>A, NM_001282587.1:c.1260C>T, XM_005263540.6:c.1254C>A, XM_005263540.6:c.1254C>T, XM_005263540.5:c.1254C>A, XM_005263540.5:c.1254C>T, XM_005263540.4:c.1254C>A, XM_005263540.4:c.1254C>T, XM_005263540.3:c.1254C>A, XM_005263540.3:c.1254C>T, XM_005263540.2:c.1254C>A, XM_005263540.2:c.1254C>T, XM_005263540.1:c.1254C>A, XM_005263540.1:c.1254C>T, XM_006711052.5:c.1227C>A, XM_006711052.5:c.1227C>T, XM_006711052.4:c.1227C>A, XM_006711052.4:c.1227C>T, XM_006711052.3:c.1227C>A, XM_006711052.3:c.1227C>T, XM_006711052.2:c.1227C>A, XM_006711052.2:c.1227C>T, XM_006711052.1:c.1227C>A, XM_006711052.1:c.1227C>T, XM_017002865.3:c.1227C>A, XM_017002865.3:c.1227C>T, XM_017002865.2:c.1227C>A, XM_017002865.2:c.1227C>T, XM_017002865.1:c.1227C>A, XM_017002865.1:c.1227C>T, XM_017002866.3:c.159C>A, XM_017002866.3:c.159C>T, XM_017002866.2:c.159C>A, XM_017002866.2:c.159C>T, XM_017002866.1:c.159C>A, XM_017002866.1:c.159C>T, XM_047435002.1:c.1260C>A, XM_047435002.1:c.1260C>T, XM_047435005.1:c.1227C>A, XM_047435005.1:c.1227C>T, XM_047435003.1:c.1248C>A, XM_047435003.1:c.1248C>T, NP_004276.2:p.Ser409Arg, NP_001269516.1:p.Ser420Arg, XP_005263597.1:p.Ser418Arg, XP_006711115.1:p.Ser409Arg, XP_016858354.1:p.Ser409Arg, XP_016858355.1:p.Ser53Arg, XP_047290958.1:p.Ser420Arg, XP_047290961.1:p.Ser409Arg, XP_047290959.1:p.Ser416Arg

                            14.

                            rs1474142048 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:9264310 (GRCh38)
                              1:9324369 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:9264309:A:G
                              Gene:
                              H6PD (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.00006/1 (TOMMO)
                              HGVS:
                              NC_000001.11:g.9264310A>G, NC_000001.10:g.9324369A>G, NG_012218.1:g.34507A>G, NM_004285.4:c.1817A>G, NM_004285.3:c.1817A>G, NM_001282587.2:c.1850A>G, NM_001282587.1:c.1850A>G, XM_005263540.6:c.1844A>G, XM_005263540.5:c.1844A>G, XM_005263540.4:c.1844A>G, XM_005263540.3:c.1844A>G, XM_005263540.2:c.1844A>G, XM_005263540.1:c.1844A>G, XM_006711052.5:c.1817A>G, XM_006711052.4:c.1817A>G, XM_006711052.3:c.1817A>G, XM_006711052.2:c.1817A>G, XM_006711052.1:c.1817A>G, XM_017002865.3:c.1817A>G, XM_017002865.2:c.1817A>G, XM_017002865.1:c.1817A>G, XM_017002866.3:c.749A>G, XM_017002866.2:c.749A>G, XM_017002866.1:c.749A>G, XM_047435002.1:c.1850A>G, XM_047435005.1:c.1817A>G, XM_047435003.1:c.1838A>G, NP_004276.2:p.His606Arg, NP_001269516.1:p.His617Arg, XP_005263597.1:p.His615Arg, XP_006711115.1:p.His606Arg, XP_016858354.1:p.His606Arg, XP_016858355.1:p.His250Arg, XP_047290958.1:p.His617Arg, XP_047290961.1:p.His606Arg, XP_047290959.1:p.His613Arg

                              15.

                              rs1473929627 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:9264639 (GRCh38)
                                1:9324698 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:9264638:G:A
                                Gene:
                                H6PD (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.9264639G>A, NC_000001.10:g.9324698G>A, NG_012218.1:g.34836G>A, NM_004285.4:c.2146G>A, NM_004285.3:c.2146G>A, NM_001282587.2:c.2179G>A, NM_001282587.1:c.2179G>A, XM_005263540.6:c.2173G>A, XM_005263540.5:c.2173G>A, XM_005263540.4:c.2173G>A, XM_005263540.3:c.2173G>A, XM_005263540.2:c.2173G>A, XM_005263540.1:c.2173G>A, XM_006711052.5:c.2146G>A, XM_006711052.4:c.2146G>A, XM_006711052.3:c.2146G>A, XM_006711052.2:c.2146G>A, XM_006711052.1:c.2146G>A, XM_017002865.3:c.2146G>A, XM_017002865.2:c.2146G>A, XM_017002865.1:c.2146G>A, XM_017002866.3:c.1078G>A, XM_017002866.2:c.1078G>A, XM_017002866.1:c.1078G>A, XM_047435002.1:c.2179G>A, XM_047435005.1:c.2146G>A, XM_047435003.1:c.2167G>A, NP_004276.2:p.Val716Ile, NP_001269516.1:p.Val727Ile, XP_005263597.1:p.Val725Ile, XP_006711115.1:p.Val716Ile, XP_016858354.1:p.Val716Ile, XP_016858355.1:p.Val360Ile, XP_047290958.1:p.Val727Ile, XP_047290961.1:p.Val716Ile, XP_047290959.1:p.Val723Ile

                                16.

                                rs1471281752 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:9245500 (GRCh38)
                                  1:9305559 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:9245499:A:G
                                  Gene:
                                  H6PD (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.9245500A>G, NC_000001.10:g.9305559A>G, NG_012218.1:g.15697A>G, NM_004285.4:c.566A>G, NM_004285.3:c.566A>G, NM_001282587.2:c.599A>G, NM_001282587.1:c.599A>G, XM_005263540.6:c.593A>G, XM_005263540.5:c.593A>G, XM_005263540.4:c.593A>G, XM_005263540.3:c.593A>G, XM_005263540.2:c.593A>G, XM_005263540.1:c.593A>G, XM_006711052.5:c.566A>G, XM_006711052.4:c.566A>G, XM_006711052.3:c.566A>G, XM_006711052.2:c.566A>G, XM_006711052.1:c.566A>G, XM_017002865.3:c.566A>G, XM_017002865.2:c.566A>G, XM_017002865.1:c.566A>G, XM_047435002.1:c.599A>G, XM_047435005.1:c.566A>G, XM_047435003.1:c.587A>G, NP_004276.2:p.Glu189Gly, NP_001269516.1:p.Glu200Gly, XP_005263597.1:p.Glu198Gly, XP_006711115.1:p.Glu189Gly, XP_016858354.1:p.Glu189Gly, XP_047290958.1:p.Glu200Gly, XP_047290961.1:p.Glu189Gly, XP_047290959.1:p.Glu196Gly

                                  17.

                                  rs1470165248 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    1:9262188 (GRCh38)
                                    1:9322247 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:9262187:A:T
                                    Gene:
                                    H6PD (Varview)
                                    Functional Consequence:
                                    missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.9262188A>T, NC_000001.10:g.9322247A>T, NG_012218.1:g.32385A>T, NM_004285.4:c.875A>T, NM_004285.3:c.875A>T, NM_001282587.2:c.908A>T, NM_001282587.1:c.908A>T, XM_005263540.6:c.902A>T, XM_005263540.5:c.902A>T, XM_005263540.4:c.902A>T, XM_005263540.3:c.902A>T, XM_005263540.2:c.902A>T, XM_005263540.1:c.902A>T, XM_006711052.5:c.875A>T, XM_006711052.4:c.875A>T, XM_006711052.3:c.875A>T, XM_006711052.2:c.875A>T, XM_006711052.1:c.875A>T, XM_017002865.3:c.875A>T, XM_017002865.2:c.875A>T, XM_017002865.1:c.875A>T, XM_017002866.3:c.-136A>T, XM_017002866.2:c.-136A>T, XM_017002866.1:c.-136A>T, XM_047435002.1:c.908A>T, XM_047435005.1:c.875A>T, XM_047435003.1:c.896A>T, NP_004276.2:p.His292Leu, NP_001269516.1:p.His303Leu, XP_005263597.1:p.His301Leu, XP_006711115.1:p.His292Leu, XP_016858354.1:p.His292Leu, XP_047290958.1:p.His303Leu, XP_047290961.1:p.His292Leu, XP_047290959.1:p.His299Leu

                                    18.

                                    rs1469638040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:9264795 (GRCh38)
                                      1:9324854 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:9264794:T:C
                                      Gene:
                                      H6PD (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000077/2 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000001.11:g.9264795T>C, NC_000001.10:g.9324854T>C, NG_012218.1:g.34992T>C, NM_004285.4:c.2302T>C, NM_004285.3:c.2302T>C, NM_001282587.2:c.2335T>C, NM_001282587.1:c.2335T>C, XM_005263540.6:c.2329T>C, XM_005263540.5:c.2329T>C, XM_005263540.4:c.2329T>C, XM_005263540.3:c.2329T>C, XM_005263540.2:c.2329T>C, XM_005263540.1:c.2329T>C, XM_006711052.5:c.2302T>C, XM_006711052.4:c.2302T>C, XM_006711052.3:c.2302T>C, XM_006711052.2:c.2302T>C, XM_006711052.1:c.2302T>C, XM_017002865.3:c.2302T>C, XM_017002865.2:c.2302T>C, XM_017002865.1:c.2302T>C, XM_017002866.3:c.1234T>C, XM_017002866.2:c.1234T>C, XM_017002866.1:c.1234T>C, XM_047435002.1:c.2335T>C, XM_047435005.1:c.2302T>C, XM_047435003.1:c.2323T>C, NP_004276.2:p.Trp768Arg, NP_001269516.1:p.Trp779Arg, XP_005263597.1:p.Trp777Arg, XP_006711115.1:p.Trp768Arg, XP_016858354.1:p.Trp768Arg, XP_016858355.1:p.Trp412Arg, XP_047290958.1:p.Trp779Arg, XP_047290961.1:p.Trp768Arg, XP_047290959.1:p.Trp775Arg

                                      19.

                                      rs1469026866 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:9264617 (GRCh38)
                                        1:9324676 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:9264616:T:C
                                        Gene:
                                        H6PD (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1466522348 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:9245472 (GRCh38)
                                          1:9305531 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:9245471:C:G
                                          Gene:
                                          H6PD (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.0011/2 (Korea1K)
                                          HGVS:
                                          NC_000001.11:g.9245472C>G, NC_000001.10:g.9305531C>G, NG_012218.1:g.15669C>G, NM_004285.4:c.538C>G, NM_004285.3:c.538C>G, NM_001282587.2:c.571C>G, NM_001282587.1:c.571C>G, XM_005263540.6:c.565C>G, XM_005263540.5:c.565C>G, XM_005263540.4:c.565C>G, XM_005263540.3:c.565C>G, XM_005263540.2:c.565C>G, XM_005263540.1:c.565C>G, XM_006711052.5:c.538C>G, XM_006711052.4:c.538C>G, XM_006711052.3:c.538C>G, XM_006711052.2:c.538C>G, XM_006711052.1:c.538C>G, XM_017002865.3:c.538C>G, XM_017002865.2:c.538C>G, XM_017002865.1:c.538C>G, XM_047435002.1:c.571C>G, XM_047435005.1:c.538C>G, XM_047435003.1:c.559C>G, NP_004276.2:p.His180Asp, NP_001269516.1:p.His191Asp, XP_005263597.1:p.His189Asp, XP_006711115.1:p.His180Asp, XP_016858354.1:p.His180Asp, XP_047290958.1:p.His191Asp, XP_047290961.1:p.His180Asp, XP_047290959.1:p.His187Asp

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