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Items: 1 to 20 of 393

1.

rs1490954532 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:4463698 (GRCh38)
    16:4513699 (GRCh37)
    Canonical SPDI:
    NC_000016.10:4463697:G:A
    Gene:
    NMRAL1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000016.10:g.4463698G>A, NC_000016.9:g.4513699G>A, NT_187608.1:g.166021G>A, NM_020677.6:c.682C>T, NM_020677.5:c.682C>T, NM_020677.4:c.682C>T, NM_020677.3:c.682C>T, NM_001305141.3:c.682C>T, NM_001305141.2:c.682C>T, NM_001305141.1:c.682C>T, XM_017023486.3:c.682C>T, XM_017023486.2:c.790C>T, XM_017023486.1:c.790C>T, XM_017023488.3:c.682C>T, XM_017023488.2:c.682C>T, XM_017023488.1:c.682C>T, NM_001351994.2:c.682C>T, NM_001351994.1:c.682C>T, NM_001305142.3:c.682C>T, NM_001305142.2:c.682C>T, NM_001305142.1:c.682C>T, NM_001351995.2:c.493C>T, NM_001351995.1:c.493C>T, NR_147845.2:n.788C>T, NR_147845.1:n.1058C>T, XM_047434385.1:c.490C>T, XM_047434384.1:c.682C>T, XM_047434382.1:c.682C>T, XM_047434383.1:c.682C>T, XM_047434381.1:c.682C>T, NP_065728.1:p.Leu228Phe, NP_001292070.1:p.Leu228Phe, XP_016878975.2:p.Leu228Phe, XP_016878977.1:p.Leu228Phe, NP_001338923.1:p.Leu228Phe, NP_001292071.1:p.Leu228Phe, NP_001338924.1:p.Leu165Phe, XP_047290341.1:p.Leu164Phe, XP_047290340.1:p.Leu228Phe, XP_047290338.1:p.Leu228Phe, XP_047290339.1:p.Leu228Phe, XP_047290337.1:p.Leu228Phe

    2.

    rs1490233710 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      16:4469439 (GRCh38)
      16:4519440 (GRCh37)
      Canonical SPDI:
      NC_000016.10:4469438:T:C
      Gene:
      NMRAL1 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.4469439T>C, NC_000016.9:g.4519440T>C, NT_187608.1:g.171762T>C, NM_020677.6:c.67A>G, NM_020677.5:c.67A>G, NM_020677.4:c.67A>G, NM_020677.3:c.67A>G, NM_001305141.3:c.67A>G, NM_001305141.2:c.67A>G, NM_001305141.1:c.67A>G, XM_017023486.3:c.67A>G, XM_017023486.2:c.175A>G, XM_017023486.1:c.175A>G, XM_017023488.3:c.67A>G, XM_017023488.2:c.67A>G, XM_017023488.1:c.67A>G, NM_001351994.2:c.67A>G, NM_001351994.1:c.67A>G, NM_001305142.3:c.67A>G, NM_001305142.2:c.67A>G, NM_001305142.1:c.67A>G, NR_147845.2:n.173A>G, NR_147845.1:n.443A>G, NM_001351996.2:c.67A>G, NM_001351996.1:c.67A>G, XM_047434386.1:c.67A>G, XM_047434385.1:c.-126A>G, XM_047434387.1:c.67A>G, XM_047434384.1:c.67A>G, XM_047434382.1:c.67A>G, XM_047434383.1:c.67A>G, XM_047434381.1:c.67A>G, NP_065728.1:p.Thr23Ala, NP_001292070.1:p.Thr23Ala, XP_016878975.2:p.Thr23Ala, XP_016878977.1:p.Thr23Ala, NP_001338923.1:p.Thr23Ala, NP_001292071.1:p.Thr23Ala, NP_001338925.1:p.Thr23Ala, XP_047290342.1:p.Thr23Ala, XP_047290343.1:p.Thr23Ala, XP_047290340.1:p.Thr23Ala, XP_047290338.1:p.Thr23Ala, XP_047290339.1:p.Thr23Ala, XP_047290337.1:p.Thr23Ala

      3.

      rs1487050249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        16:4466246 (GRCh38)
        16:4516247 (GRCh37)
        Canonical SPDI:
        NC_000016.10:4466245:G:T
        Gene:
        NMRAL1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_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_000016.10:g.4466246G>T, NC_000016.9:g.4516247G>T, NT_187608.1:g.168569G>T, NM_020677.6:c.436C>A, NM_020677.5:c.436C>A, NM_020677.4:c.436C>A, NM_020677.3:c.436C>A, XM_017023486.3:c.436C>A, XM_017023486.2:c.544C>A, XM_017023486.1:c.544C>A, XM_017023488.3:c.436C>A, XM_017023488.2:c.436C>A, XM_017023488.1:c.436C>A, NM_001305142.3:c.436C>A, NM_001305142.2:c.436C>A, NM_001305142.1:c.436C>A, NM_001305141.3:c.436C>A, NM_001305141.2:c.436C>A, NM_001305141.1:c.436C>A, NM_001351994.2:c.436C>A, NM_001351994.1:c.436C>A, NM_001351996.2:c.436C>A, NM_001351996.1:c.436C>A, NM_001351995.2:c.247C>A, NM_001351995.1:c.247C>A, NR_147845.2:n.542C>A, NR_147845.1:n.812C>A, XM_047434387.1:c.436C>A, XM_047434384.1:c.436C>A, XM_047434386.1:c.436C>A, XM_047434385.1:c.244C>A, XM_047434381.1:c.436C>A, XM_047434382.1:c.436C>A, XM_047434383.1:c.436C>A, NP_065728.1:p.Pro146Thr, XP_016878975.2:p.Pro146Thr, XP_016878977.1:p.Pro146Thr, NP_001292071.1:p.Pro146Thr, NP_001292070.1:p.Pro146Thr, NP_001338923.1:p.Pro146Thr, NP_001338925.1:p.Pro146Thr, NP_001338924.1:p.Pro83Thr, XP_047290343.1:p.Pro146Thr, XP_047290340.1:p.Pro146Thr, XP_047290342.1:p.Pro146Thr, XP_047290341.1:p.Pro82Thr, XP_047290337.1:p.Pro146Thr, XP_047290338.1:p.Pro146Thr, XP_047290339.1:p.Pro146Thr

        4.

        rs1482981810 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          16:4469323 (GRCh38)
          16:4519324 (GRCh37)
          Canonical SPDI:
          NC_000016.10:4469322:G:A,NC_000016.10:4469322:G:C
          Gene:
          NMRAL1 (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          HGVS:
          NC_000016.10:g.4469323G>A, NC_000016.10:g.4469323G>C, NC_000016.9:g.4519324G>A, NC_000016.9:g.4519324G>C, NT_187608.1:g.171646G>A, NT_187608.1:g.171646G>C, NM_020677.6:c.183C>T, NM_020677.6:c.183C>G, NM_020677.5:c.183C>T, NM_020677.5:c.183C>G, NM_020677.4:c.183C>T, NM_020677.4:c.183C>G, NM_020677.3:c.183C>T, NM_020677.3:c.183C>G, NM_001305141.3:c.183C>T, NM_001305141.3:c.183C>G, NM_001305141.2:c.183C>T, NM_001305141.2:c.183C>G, NM_001305141.1:c.183C>T, NM_001305141.1:c.183C>G, XM_017023486.3:c.183C>T, XM_017023486.3:c.183C>G, XM_017023486.2:c.291C>T, XM_017023486.2:c.291C>G, XM_017023486.1:c.291C>T, XM_017023486.1:c.291C>G, XM_017023488.3:c.183C>T, XM_017023488.3:c.183C>G, XM_017023488.2:c.183C>T, XM_017023488.2:c.183C>G, XM_017023488.1:c.183C>T, XM_017023488.1:c.183C>G, NM_001351994.2:c.183C>T, NM_001351994.2:c.183C>G, NM_001351994.1:c.183C>T, NM_001351994.1:c.183C>G, NM_001305142.3:c.183C>T, NM_001305142.3:c.183C>G, NM_001305142.2:c.183C>T, NM_001305142.2:c.183C>G, NM_001305142.1:c.183C>T, NM_001305142.1:c.183C>G, NR_147845.2:n.289C>T, NR_147845.2:n.289C>G, NR_147845.1:n.559C>T, NR_147845.1:n.559C>G, NM_001351996.2:c.183C>T, NM_001351996.2:c.183C>G, NM_001351996.1:c.183C>T, NM_001351996.1:c.183C>G, XM_047434381.1:c.183C>T, XM_047434381.1:c.183C>G, XM_047434383.1:c.183C>T, XM_047434383.1:c.183C>G, XM_047434384.1:c.183C>T, XM_047434384.1:c.183C>G, XM_047434386.1:c.183C>T, XM_047434386.1:c.183C>G, XM_047434385.1:c.-10C>T, XM_047434385.1:c.-10C>G, XM_047434387.1:c.183C>T, XM_047434387.1:c.183C>G, XM_047434382.1:c.183C>T, XM_047434382.1:c.183C>G, NP_065728.1:p.Asp61Glu, NP_001292070.1:p.Asp61Glu, XP_016878975.2:p.Asp61Glu, XP_016878977.1:p.Asp61Glu, NP_001338923.1:p.Asp61Glu, NP_001292071.1:p.Asp61Glu, NP_001338925.1:p.Asp61Glu, XP_047290337.1:p.Asp61Glu, XP_047290339.1:p.Asp61Glu, XP_047290340.1:p.Asp61Glu, XP_047290342.1:p.Asp61Glu, XP_047290343.1:p.Asp61Glu, XP_047290338.1:p.Asp61Glu

          5.

          rs1477162842 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AG>- [Show Flanks]
            Chromosome:
            16:4461883 (GRCh38)
            16:4511884 (GRCh37)
            Canonical SPDI:
            NC_000016.10:4461882:AG:
            Gene:
            NMRAL1 (Varview)
            Functional Consequence:
            frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000016.10:g.4461883_4461884del, NC_000016.9:g.4511884_4511885del, NT_187608.1:g.164206_164207del, NM_020677.6:c.796_797del, NM_020677.5:c.796_797del, NM_020677.4:c.796_797del, NM_020677.3:c.796_797del, NM_001305141.3:c.796_797del, NM_001305141.2:c.796_797del, NM_001305141.1:c.796_797del, NM_001305142.3:c.796_797del, NM_001305142.2:c.796_797del, NM_001305142.1:c.796_797del, NM_001351995.2:c.607_608del, NM_001351995.1:c.607_608del, NR_147845.2:n.995_996del, NR_147845.1:n.1265_1266del, NM_001351996.2:c.*65_*66del, NM_001351996.1:c.*65_*66del, NM_001351994.2:c.796_797del, NM_001351994.1:c.796_797del, XM_047434382.1:c.796_797del, XM_047434387.1:c.*65_*66del, XM_047434386.1:c.*65_*66del, XM_047434385.1:c.604_605del, XM_047434381.1:c.796_797del, NP_065728.1:p.Leu266fs, NP_001292070.1:p.Leu266fs, NP_001292071.1:p.Leu266fs, NP_001338924.1:p.Leu203fs, NP_001338923.1:p.Leu266fs, XP_047290338.1:p.Leu266fs, XP_047290341.1:p.Leu202fs, XP_047290337.1:p.Leu266fs

            6.

            rs1475842360 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              16:4469328 (GRCh38)
              16:4519329 (GRCh37)
              Canonical SPDI:
              NC_000016.10:4469327:C:G,NC_000016.10:4469327:C:T
              Gene:
              NMRAL1 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000035/1 (TOMMO)
              HGVS:
              NC_000016.10:g.4469328C>G, NC_000016.10:g.4469328C>T, NC_000016.9:g.4519329C>G, NC_000016.9:g.4519329C>T, NT_187608.1:g.171651C>G, NT_187608.1:g.171651C>T, NM_020677.6:c.178G>C, NM_020677.6:c.178G>A, NM_020677.5:c.178G>C, NM_020677.5:c.178G>A, NM_020677.4:c.178G>C, NM_020677.4:c.178G>A, NM_020677.3:c.178G>C, NM_020677.3:c.178G>A, NM_001305141.3:c.178G>C, NM_001305141.3:c.178G>A, NM_001305141.2:c.178G>C, NM_001305141.2:c.178G>A, NM_001305141.1:c.178G>C, NM_001305141.1:c.178G>A, XM_017023486.3:c.178G>C, XM_017023486.3:c.178G>A, XM_017023486.2:c.286G>C, XM_017023486.2:c.286G>A, XM_017023486.1:c.286G>C, XM_017023486.1:c.286G>A, XM_017023488.3:c.178G>C, XM_017023488.3:c.178G>A, XM_017023488.2:c.178G>C, XM_017023488.2:c.178G>A, XM_017023488.1:c.178G>C, XM_017023488.1:c.178G>A, NM_001351994.2:c.178G>C, NM_001351994.2:c.178G>A, NM_001351994.1:c.178G>C, NM_001351994.1:c.178G>A, NM_001305142.3:c.178G>C, NM_001305142.3:c.178G>A, NM_001305142.2:c.178G>C, NM_001305142.2:c.178G>A, NM_001305142.1:c.178G>C, NM_001305142.1:c.178G>A, NR_147845.2:n.284G>C, NR_147845.2:n.284G>A, NR_147845.1:n.554G>C, NR_147845.1:n.554G>A, NM_001351996.2:c.178G>C, NM_001351996.2:c.178G>A, NM_001351996.1:c.178G>C, NM_001351996.1:c.178G>A, XM_047434381.1:c.178G>C, XM_047434381.1:c.178G>A, XM_047434383.1:c.178G>C, XM_047434383.1:c.178G>A, XM_047434384.1:c.178G>C, XM_047434384.1:c.178G>A, XM_047434386.1:c.178G>C, XM_047434386.1:c.178G>A, XM_047434385.1:c.-15G>C, XM_047434385.1:c.-15G>A, XM_047434387.1:c.178G>C, XM_047434387.1:c.178G>A, XM_047434382.1:c.178G>C, XM_047434382.1:c.178G>A, NP_065728.1:p.Asp60His, NP_065728.1:p.Asp60Asn, NP_001292070.1:p.Asp60His, NP_001292070.1:p.Asp60Asn, XP_016878975.2:p.Asp60His, XP_016878975.2:p.Asp60Asn, XP_016878977.1:p.Asp60His, XP_016878977.1:p.Asp60Asn, NP_001338923.1:p.Asp60His, NP_001338923.1:p.Asp60Asn, NP_001292071.1:p.Asp60His, NP_001292071.1:p.Asp60Asn, NP_001338925.1:p.Asp60His, NP_001338925.1:p.Asp60Asn, XP_047290337.1:p.Asp60His, XP_047290337.1:p.Asp60Asn, XP_047290339.1:p.Asp60His, XP_047290339.1:p.Asp60Asn, XP_047290340.1:p.Asp60His, XP_047290340.1:p.Asp60Asn, XP_047290342.1:p.Asp60His, XP_047290342.1:p.Asp60Asn, XP_047290343.1:p.Asp60His, XP_047290343.1:p.Asp60Asn, XP_047290338.1:p.Asp60His, XP_047290338.1:p.Asp60Asn

              7.

              rs1474293855 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:4461901 (GRCh38)
                16:4511902 (GRCh37)
                Canonical SPDI:
                NC_000016.10:4461900:A:G
                Gene:
                NMRAL1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.4461901A>G, NC_000016.9:g.4511902A>G, NT_187608.1:g.164224A>G, NM_020677.6:c.779T>C, NM_020677.5:c.779T>C, NM_020677.4:c.779T>C, NM_020677.3:c.779T>C, NM_001305141.3:c.779T>C, NM_001305141.2:c.779T>C, NM_001305141.1:c.779T>C, NM_001305142.3:c.779T>C, NM_001305142.2:c.779T>C, NM_001305142.1:c.779T>C, NM_001351995.2:c.590T>C, NM_001351995.1:c.590T>C, NR_147845.2:n.978T>C, NR_147845.1:n.1248T>C, NM_001351996.2:c.*48T>C, NM_001351996.1:c.*48T>C, XM_047434381.1:c.779T>C, NM_001351994.2:c.779T>C, NM_001351994.1:c.779T>C, XM_047434382.1:c.779T>C, XM_047434387.1:c.*48T>C, XM_047434386.1:c.*48T>C, XM_047434385.1:c.587T>C, NP_065728.1:p.Met260Thr, NP_001292070.1:p.Met260Thr, NP_001292071.1:p.Met260Thr, NP_001338924.1:p.Met197Thr, XP_047290337.1:p.Met260Thr, NP_001338923.1:p.Met260Thr, XP_047290338.1:p.Met260Thr, XP_047290341.1:p.Met196Thr

                8.

                rs1473690562 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:4469272 (GRCh38)
                  16:4519273 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:4469271:C:T
                  Gene:
                  NMRAL1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_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=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1471606259 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:4463749 (GRCh38)
                    16:4513750 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:4463748:T:C
                    Gene:
                    NMRAL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.4463749T>C, NC_000016.9:g.4513750T>C, NT_187608.1:g.166072T>C, NM_020677.6:c.631A>G, NM_020677.5:c.631A>G, NM_020677.4:c.631A>G, NM_020677.3:c.631A>G, NM_001305141.3:c.631A>G, NM_001305141.2:c.631A>G, NM_001305141.1:c.631A>G, XM_017023486.3:c.631A>G, XM_017023486.2:c.739A>G, XM_017023486.1:c.739A>G, XM_017023488.3:c.631A>G, XM_017023488.2:c.631A>G, XM_017023488.1:c.631A>G, NM_001351994.2:c.631A>G, NM_001351994.1:c.631A>G, NM_001305142.3:c.631A>G, NM_001305142.2:c.631A>G, NM_001305142.1:c.631A>G, NM_001351995.2:c.442A>G, NM_001351995.1:c.442A>G, NR_147845.2:n.737A>G, NR_147845.1:n.1007A>G, XM_047434385.1:c.439A>G, XM_047434384.1:c.631A>G, XM_047434382.1:c.631A>G, XM_047434383.1:c.631A>G, XM_047434381.1:c.631A>G, NP_065728.1:p.Asn211Asp, NP_001292070.1:p.Asn211Asp, XP_016878975.2:p.Asn211Asp, XP_016878977.1:p.Asn211Asp, NP_001338923.1:p.Asn211Asp, NP_001292071.1:p.Asn211Asp, NP_001338924.1:p.Asn148Asp, XP_047290341.1:p.Asn147Asp, XP_047290340.1:p.Asn211Asp, XP_047290338.1:p.Asn211Asp, XP_047290339.1:p.Asn211Asp, XP_047290337.1:p.Asn211Asp

                    10.

                    rs1471544472 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      16:4463750 (GRCh38)
                      16:4513751 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:4463749:C:G
                      Gene:
                      NMRAL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000324/6 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000008/2 (GnomAD_exomes)
                      G=0.000021/3 (GnomAD)
                      G=0.001339/6 (Estonian)
                      HGVS:
                      NC_000016.10:g.4463750C>G, NC_000016.9:g.4513751C>G, NT_187608.1:g.166073C>G, NM_020677.6:c.630G>C, NM_020677.5:c.630G>C, NM_020677.4:c.630G>C, NM_020677.3:c.630G>C, XM_017023486.3:c.630G>C, XM_017023486.2:c.738G>C, XM_017023486.1:c.738G>C, XM_017023488.3:c.630G>C, XM_017023488.2:c.630G>C, XM_017023488.1:c.630G>C, NM_001305142.3:c.630G>C, NM_001305142.2:c.630G>C, NM_001305142.1:c.630G>C, NM_001305141.3:c.630G>C, NM_001305141.2:c.630G>C, NM_001305141.1:c.630G>C, NM_001351994.2:c.630G>C, NM_001351994.1:c.630G>C, NM_001351995.2:c.441G>C, NM_001351995.1:c.441G>C, NR_147845.2:n.736G>C, NR_147845.1:n.1006G>C, XM_047434384.1:c.630G>C, XM_047434385.1:c.438G>C, XM_047434381.1:c.630G>C, XM_047434382.1:c.630G>C, XM_047434383.1:c.630G>C, NP_065728.1:p.Gln210His, XP_016878975.2:p.Gln210His, XP_016878977.1:p.Gln210His, NP_001292071.1:p.Gln210His, NP_001292070.1:p.Gln210His, NP_001338923.1:p.Gln210His, NP_001338924.1:p.Gln147His, XP_047290340.1:p.Gln210His, XP_047290341.1:p.Gln146His, XP_047290337.1:p.Gln210His, XP_047290338.1:p.Gln210His, XP_047290339.1:p.Gln210His

                      11.

                      rs1458771640 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:4466296 (GRCh38)
                        16:4516297 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:4466295:T:C
                        Gene:
                        NMRAL1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000016.10:g.4466296T>C, NC_000016.9:g.4516297T>C, NT_187608.1:g.168619T>C, NM_020677.6:c.386A>G, NM_020677.5:c.386A>G, NM_020677.4:c.386A>G, NM_020677.3:c.386A>G, NM_001305141.3:c.386A>G, NM_001305141.2:c.386A>G, NM_001305141.1:c.386A>G, XM_017023486.3:c.386A>G, XM_017023486.2:c.494A>G, XM_017023486.1:c.494A>G, XM_017023488.3:c.386A>G, XM_017023488.2:c.386A>G, XM_017023488.1:c.386A>G, NM_001351994.2:c.386A>G, NM_001351994.1:c.386A>G, NM_001305142.3:c.386A>G, NM_001305142.2:c.386A>G, NM_001305142.1:c.386A>G, NM_001351995.2:c.197A>G, NM_001351995.1:c.197A>G, NR_147845.2:n.492A>G, NR_147845.1:n.762A>G, NM_001351996.2:c.386A>G, NM_001351996.1:c.386A>G, XM_047434386.1:c.386A>G, XM_047434385.1:c.194A>G, XM_047434387.1:c.386A>G, XM_047434384.1:c.386A>G, XM_047434382.1:c.386A>G, XM_047434383.1:c.386A>G, XM_047434381.1:c.386A>G, NP_065728.1:p.His129Arg, NP_001292070.1:p.His129Arg, XP_016878975.2:p.His129Arg, XP_016878977.1:p.His129Arg, NP_001338923.1:p.His129Arg, NP_001292071.1:p.His129Arg, NP_001338924.1:p.His66Arg, NP_001338925.1:p.His129Arg, XP_047290342.1:p.His129Arg, XP_047290341.1:p.His65Arg, XP_047290343.1:p.His129Arg, XP_047290340.1:p.His129Arg, XP_047290338.1:p.His129Arg, XP_047290339.1:p.His129Arg, XP_047290337.1:p.His129Arg

                        12.

                        rs1457284378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:4466389 (GRCh38)
                          16:4516390 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:4466388:G:A
                          Gene:
                          NMRAL1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.4466389G>A, NC_000016.9:g.4516390G>A, NT_187608.1:g.168712G>A, NM_020677.6:c.293C>T, NM_020677.5:c.293C>T, NM_020677.4:c.293C>T, NM_020677.3:c.293C>T, XM_017023486.3:c.293C>T, XM_017023486.2:c.401C>T, XM_017023486.1:c.401C>T, XM_017023488.3:c.293C>T, XM_017023488.2:c.293C>T, XM_017023488.1:c.293C>T, NM_001305142.3:c.293C>T, NM_001305142.2:c.293C>T, NM_001305142.1:c.293C>T, NM_001305141.3:c.293C>T, NM_001305141.2:c.293C>T, NM_001305141.1:c.293C>T, NM_001351994.2:c.293C>T, NM_001351994.1:c.293C>T, NM_001351996.2:c.293C>T, NM_001351996.1:c.293C>T, NM_001351995.2:c.104C>T, NM_001351995.1:c.104C>T, NR_147845.2:n.399C>T, NR_147845.1:n.669C>T, XM_047434387.1:c.293C>T, XM_047434384.1:c.293C>T, XM_047434386.1:c.293C>T, XM_047434385.1:c.101C>T, XM_047434381.1:c.293C>T, XM_047434382.1:c.293C>T, XM_047434383.1:c.293C>T, NP_065728.1:p.Ala98Val, XP_016878975.2:p.Ala98Val, XP_016878977.1:p.Ala98Val, NP_001292071.1:p.Ala98Val, NP_001292070.1:p.Ala98Val, NP_001338923.1:p.Ala98Val, NP_001338925.1:p.Ala98Val, NP_001338924.1:p.Ala35Val, XP_047290343.1:p.Ala98Val, XP_047290340.1:p.Ala98Val, XP_047290342.1:p.Ala98Val, XP_047290341.1:p.Ala34Val, XP_047290337.1:p.Ala98Val, XP_047290338.1:p.Ala98Val, XP_047290339.1:p.Ala98Val

                          13.

                          rs1457230659 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:4474114 (GRCh38)
                            16:4524115 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:4474113:C:T
                            Gene:
                            HMOX2 (Varview), NMRAL1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.00004/1 (TOMMO)
                            HGVS:
                            NC_000016.10:g.4474114C>T, NC_000016.9:g.4524115C>T, NT_187608.1:g.176437C>T, NM_020677.6:c.19G>A, NM_020677.5:c.19G>A, NM_020677.4:c.19G>A, NM_020677.3:c.19G>A, XM_017023486.3:c.19G>A, XM_017023486.2:c.127G>A, XM_017023486.1:c.127G>A, XM_017023488.3:c.19G>A, XM_017023488.2:c.19G>A, XM_017023488.1:c.19G>A, NM_001305141.3:c.19G>A, NM_001305141.2:c.19G>A, NM_001305141.1:c.19G>A, NM_001305142.3:c.19G>A, NM_001305142.2:c.19G>A, NM_001305142.1:c.19G>A, NM_001351994.2:c.19G>A, NM_001351994.1:c.19G>A, NM_001351995.2:c.-127G>A, NM_001351995.1:c.-127G>A, NR_147845.2:n.125G>A, NR_147845.1:n.395G>A, NM_001351996.2:c.19G>A, NM_001351996.1:c.19G>A, XM_047434384.1:c.19G>A, XM_047434383.1:c.19G>A, XM_047434382.1:c.19G>A, XM_047434387.1:c.19G>A, XM_047434386.1:c.19G>A, XM_047434381.1:c.19G>A, NP_065728.1:p.Val7Met, XP_016878975.2:p.Val7Met, XP_016878977.1:p.Val7Met, NP_001292070.1:p.Val7Met, NP_001292071.1:p.Val7Met, NP_001338923.1:p.Val7Met, NP_001338925.1:p.Val7Met, XP_047290340.1:p.Val7Met, XP_047290339.1:p.Val7Met, XP_047290338.1:p.Val7Met, XP_047290343.1:p.Val7Met, XP_047290342.1:p.Val7Met, XP_047290337.1:p.Val7Met

                            14.

                            rs1456785820 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:4469437 (GRCh38)
                              16:4519438 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:4469436:T:C
                              Gene:
                              NMRAL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.00007/2 (TOMMO)
                              HGVS:

                              15.

                              rs1455773448 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:4466169 (GRCh38)
                                16:4516170 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:4466168:T:C
                                Gene:
                                NMRAL1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000047/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.4466169T>C, NC_000016.9:g.4516170T>C, NT_187608.1:g.168492T>C, NM_020677.6:c.513A>G, NM_020677.5:c.513A>G, NM_020677.4:c.513A>G, NM_020677.3:c.513A>G, NM_001305141.3:c.513A>G, NM_001305141.2:c.513A>G, NM_001305141.1:c.513A>G, XM_017023486.3:c.513A>G, XM_017023486.2:c.621A>G, XM_017023486.1:c.621A>G, XM_017023488.3:c.513A>G, XM_017023488.2:c.513A>G, XM_017023488.1:c.513A>G, NM_001351994.2:c.513A>G, NM_001351994.1:c.513A>G, NM_001305142.3:c.513A>G, NM_001305142.2:c.513A>G, NM_001305142.1:c.513A>G, NM_001351995.2:c.324A>G, NM_001351995.1:c.324A>G, NR_147845.2:n.619A>G, NR_147845.1:n.889A>G, NM_001351996.2:c.513A>G, NM_001351996.1:c.513A>G, XM_047434386.1:c.513A>G, XM_047434385.1:c.321A>G, XM_047434387.1:c.513A>G, XM_047434384.1:c.513A>G, XM_047434382.1:c.513A>G, XM_047434383.1:c.513A>G, XM_047434381.1:c.513A>G

                                16.

                                rs1455459728 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  16:4461953 (GRCh38)
                                  16:4511954 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:4461952:G:C,NC_000016.10:4461952:G:T
                                  Gene:
                                  NMRAL1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000047/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.4461953G>C, NC_000016.10:g.4461953G>T, NC_000016.9:g.4511954G>C, NC_000016.9:g.4511954G>T, NT_187608.1:g.164276G>C, NT_187608.1:g.164276G>T, NM_020677.6:c.727C>G, NM_020677.6:c.727C>A, NM_020677.5:c.727C>G, NM_020677.5:c.727C>A, NM_020677.4:c.727C>G, NM_020677.4:c.727C>A, NM_020677.3:c.727C>G, NM_020677.3:c.727C>A, NM_001305141.3:c.727C>G, NM_001305141.3:c.727C>A, NM_001305141.2:c.727C>G, NM_001305141.2:c.727C>A, NM_001305141.1:c.727C>G, NM_001305141.1:c.727C>A, NM_001305142.3:c.727C>G, NM_001305142.3:c.727C>A, NM_001305142.2:c.727C>G, NM_001305142.2:c.727C>A, NM_001305142.1:c.727C>G, NM_001305142.1:c.727C>A, NM_001351995.2:c.538C>G, NM_001351995.2:c.538C>A, NM_001351995.1:c.538C>G, NM_001351995.1:c.538C>A, NR_147845.2:n.926C>G, NR_147845.2:n.926C>A, NR_147845.1:n.1196C>G, NR_147845.1:n.1196C>A, NM_001351996.2:c.536C>G, NM_001351996.2:c.536C>A, NM_001351996.1:c.536C>G, NM_001351996.1:c.536C>A, NM_001351994.2:c.727C>G, NM_001351994.2:c.727C>A, NM_001351994.1:c.727C>G, NM_001351994.1:c.727C>A, XM_047434382.1:c.727C>G, XM_047434382.1:c.727C>A, XM_047434387.1:c.536C>G, XM_047434387.1:c.536C>A, XM_047434386.1:c.536C>G, XM_047434386.1:c.536C>A, XM_047434385.1:c.535C>G, XM_047434385.1:c.535C>A, XM_047434381.1:c.727C>G, XM_047434381.1:c.727C>A, NP_065728.1:p.Pro243Ala, NP_065728.1:p.Pro243Thr, NP_001292070.1:p.Pro243Ala, NP_001292070.1:p.Pro243Thr, NP_001292071.1:p.Pro243Ala, NP_001292071.1:p.Pro243Thr, NP_001338924.1:p.Pro180Ala, NP_001338924.1:p.Pro180Thr, NP_001338925.1:p.Ser179Cys, NP_001338925.1:p.Ser179Tyr, NP_001338923.1:p.Pro243Ala, NP_001338923.1:p.Pro243Thr, XP_047290338.1:p.Pro243Ala, XP_047290338.1:p.Pro243Thr, XP_047290343.1:p.Ser179Cys, XP_047290343.1:p.Ser179Tyr, XP_047290342.1:p.Ser179Cys, XP_047290342.1:p.Ser179Tyr, XP_047290341.1:p.Pro179Ala, XP_047290341.1:p.Pro179Thr, XP_047290337.1:p.Pro243Ala, XP_047290337.1:p.Pro243Thr

                                  17.

                                  rs1450804334 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:4461929 (GRCh38)
                                    16:4511930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:4461928:A:G
                                    Gene:
                                    NMRAL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.4461929A>G, NC_000016.9:g.4511930A>G, NT_187608.1:g.164252A>G, NM_020677.6:c.751T>C, NM_020677.5:c.751T>C, NM_020677.4:c.751T>C, NM_020677.3:c.751T>C, NM_001305141.3:c.751T>C, NM_001305141.2:c.751T>C, NM_001305141.1:c.751T>C, NM_001305142.3:c.751T>C, NM_001305142.2:c.751T>C, NM_001305142.1:c.751T>C, NM_001351995.2:c.562T>C, NM_001351995.1:c.562T>C, NR_147845.2:n.950T>C, NR_147845.1:n.1220T>C, NM_001351996.2:c.*20T>C, NM_001351996.1:c.*20T>C, NM_001351994.2:c.751T>C, NM_001351994.1:c.751T>C, XM_047434382.1:c.751T>C, XM_047434387.1:c.*20T>C, XM_047434386.1:c.*20T>C, XM_047434385.1:c.559T>C, XM_047434381.1:c.751T>C, NP_065728.1:p.Phe251Leu, NP_001292070.1:p.Phe251Leu, NP_001292071.1:p.Phe251Leu, NP_001338924.1:p.Phe188Leu, NP_001338923.1:p.Phe251Leu, XP_047290338.1:p.Phe251Leu, XP_047290341.1:p.Phe187Leu, XP_047290337.1:p.Phe251Leu

                                    18.

                                    rs1447592325 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:4461791 (GRCh38)
                                      16:4511792 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:4461790:T:C
                                      Gene:
                                      NMRAL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.4461791T>C, NC_000016.9:g.4511792T>C, NT_187608.1:g.164114T>C, NM_020677.6:c.889A>G, NM_020677.5:c.889A>G, NM_020677.4:c.889A>G, NM_020677.3:c.889A>G, NM_001305141.3:c.889A>G, NM_001305141.2:c.889A>G, NM_001305141.1:c.889A>G, NM_001305142.3:c.889A>G, NM_001305142.2:c.889A>G, NM_001305142.1:c.889A>G, NM_001351995.2:c.700A>G, NM_001351995.1:c.700A>G, NR_147845.2:n.1088A>G, NR_147845.1:n.1358A>G, NM_001351996.2:c.*158A>G, NM_001351996.1:c.*158A>G, NM_001351994.2:c.889A>G, NM_001351994.1:c.889A>G, XM_047434382.1:c.889A>G, XM_047434387.1:c.*158A>G, XM_047434386.1:c.*158A>G, XM_047434385.1:c.697A>G, XM_047434381.1:c.889A>G, NP_065728.1:p.Asn297Asp, NP_001292070.1:p.Asn297Asp, NP_001292071.1:p.Asn297Asp, NP_001338924.1:p.Asn234Asp, NP_001338923.1:p.Asn297Asp, XP_047290338.1:p.Asn297Asp, XP_047290341.1:p.Asn233Asp, XP_047290337.1:p.Asn297Asp

                                      19.

                                      rs1447163931 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        16:4461898 (GRCh38)
                                        16:4511899 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:4461897:A:C
                                        Gene:
                                        NMRAL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.4461898A>C, NC_000016.9:g.4511899A>C, NT_187608.1:g.164221A>C, NM_020677.6:c.782T>G, NM_020677.5:c.782T>G, NM_020677.4:c.782T>G, NM_020677.3:c.782T>G, NM_001305141.3:c.782T>G, NM_001305141.2:c.782T>G, NM_001305141.1:c.782T>G, NM_001305142.3:c.782T>G, NM_001305142.2:c.782T>G, NM_001305142.1:c.782T>G, NM_001351995.2:c.593T>G, NM_001351995.1:c.593T>G, NR_147845.2:n.981T>G, NR_147845.1:n.1251T>G, NM_001351996.2:c.*51T>G, NM_001351996.1:c.*51T>G, NM_001351994.2:c.782T>G, NM_001351994.1:c.782T>G, XM_047434382.1:c.782T>G, XM_047434387.1:c.*51T>G, XM_047434386.1:c.*51T>G, XM_047434385.1:c.590T>G, XM_047434381.1:c.782T>G, NP_065728.1:p.Phe261Cys, NP_001292070.1:p.Phe261Cys, NP_001292071.1:p.Phe261Cys, NP_001338924.1:p.Phe198Cys, NP_001338923.1:p.Phe261Cys, XP_047290338.1:p.Phe261Cys, XP_047290341.1:p.Phe197Cys, XP_047290337.1:p.Phe261Cys

                                        20.

                                        rs1445771339 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          16:4466235 (GRCh38)
                                          16:4516236 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:4466234:A:T
                                          Gene:
                                          NMRAL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.4466235A>T, NC_000016.9:g.4516236A>T, NT_187608.1:g.168558A>T, NM_020677.6:c.447T>A, NM_020677.5:c.447T>A, NM_020677.4:c.447T>A, NM_020677.3:c.447T>A, NM_001305141.3:c.447T>A, NM_001305141.2:c.447T>A, NM_001305141.1:c.447T>A, XM_017023486.3:c.447T>A, XM_017023486.2:c.555T>A, XM_017023486.1:c.555T>A, XM_017023488.3:c.447T>A, XM_017023488.2:c.447T>A, XM_017023488.1:c.447T>A, NM_001351994.2:c.447T>A, NM_001351994.1:c.447T>A, NM_001305142.3:c.447T>A, NM_001305142.2:c.447T>A, NM_001305142.1:c.447T>A, NM_001351995.2:c.258T>A, NM_001351995.1:c.258T>A, NR_147845.2:n.553T>A, NR_147845.1:n.823T>A, NM_001351996.2:c.447T>A, NM_001351996.1:c.447T>A, XM_047434381.1:c.447T>A, XM_047434383.1:c.447T>A, XM_047434384.1:c.447T>A, XM_047434386.1:c.447T>A, XM_047434385.1:c.255T>A, XM_047434387.1:c.447T>A, XM_047434382.1:c.447T>A, NP_065728.1:p.Ser149Arg, NP_001292070.1:p.Ser149Arg, XP_016878975.2:p.Ser149Arg, XP_016878977.1:p.Ser149Arg, NP_001338923.1:p.Ser149Arg, NP_001292071.1:p.Ser149Arg, NP_001338924.1:p.Ser86Arg, NP_001338925.1:p.Ser149Arg, XP_047290337.1:p.Ser149Arg, XP_047290339.1:p.Ser149Arg, XP_047290340.1:p.Ser149Arg, XP_047290342.1:p.Ser149Arg, XP_047290341.1:p.Ser85Arg, XP_047290343.1:p.Ser149Arg, XP_047290338.1:p.Ser149Arg

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