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Items: 1 to 20 of 753

1.

rs1489205367 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    8:131976098 (GRCh38)
    8:132988345 (GRCh37)
    Canonical SPDI:
    NC_000008.11:131976097:G:C
    Gene:
    EFR3A (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000008.11:g.131976098G>C, NC_000008.10:g.132988345G>C, NG_028112.2:g.76990G>C, NM_015137.6:c.1231G>C, NM_015137.5:c.1231G>C, NM_015137.4:c.1231G>C, NM_001323555.2:c.1123G>C, NM_001323555.1:c.1123G>C, NM_001323554.2:c.1123G>C, NM_001323554.1:c.1123G>C, NR_136615.2:n.1520G>C, NR_136615.1:n.1525G>C, NR_136616.2:n.1451G>C, NR_136616.1:n.1456G>C, NM_001323553.2:c.1123G>C, NM_001323553.1:c.1123G>C, NM_001323558.2:c.1231G>C, NM_001323558.1:c.1231G>C, NM_001323557.2:c.1123G>C, NM_001323557.1:c.1123G>C, NM_001323556.2:c.1123G>C, NM_001323556.1:c.1123G>C, XM_047421603.1:c.1300G>C, XM_047421604.1:c.1300G>C, NP_055952.2:p.Val411Leu, NP_001310484.1:p.Val375Leu, NP_001310483.1:p.Val375Leu, NP_001310482.1:p.Val375Leu, NP_001310487.1:p.Val411Leu, NP_001310486.1:p.Val375Leu, NP_001310485.1:p.Val375Leu, XP_047277559.1:p.Val434Leu, XP_047277560.1:p.Val434Leu

    2.

    rs1486061723 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      8:131984267 (GRCh38)
      8:132996515 (GRCh37)
      Canonical SPDI:
      NC_000008.11:131984267:A:AA
      Gene:
      EFR3A (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.131984268dup, NC_000008.10:g.132996515dup, NG_028112.2:g.85160dup, NM_015137.6:c.1705dup, NM_015137.5:c.1705dup, NM_015137.4:c.1705dup, NM_001323555.2:c.1597dup, NM_001323555.1:c.1597dup, NM_001323554.2:c.1597dup, NM_001323554.1:c.1597dup, NR_136615.2:n.1994dup, NR_136615.1:n.1999dup, NR_136616.2:n.1925dup, NR_136616.1:n.1930dup, NM_001323553.2:c.1597dup, NM_001323553.1:c.1597dup, NM_001323558.2:c.1705dup, NM_001323558.1:c.1705dup, NM_001323557.2:c.1597dup, NM_001323557.1:c.1597dup, NM_001323556.2:c.1597dup, NM_001323556.1:c.1597dup, XM_047421603.1:c.1774dup, XM_047421604.1:c.1774dup, NP_055952.2:p.Ile569fs, NP_001310484.1:p.Ile533fs, NP_001310483.1:p.Ile533fs, NP_001310482.1:p.Ile533fs, NP_001310487.1:p.Ile569fs, NP_001310486.1:p.Ile533fs, NP_001310485.1:p.Ile533fs, XP_047277559.1:p.Ile592fs, XP_047277560.1:p.Ile592fs

      3.

      rs1484789494 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        8:131955779 (GRCh38)
        8:132968026 (GRCh37)
        Canonical SPDI:
        NC_000008.11:131955778:C:G,NC_000008.11:131955778:C:T
        Gene:
        EFR3A (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000008.11:g.131955779C>G, NC_000008.11:g.131955779C>T, NC_000008.10:g.132968026C>G, NC_000008.10:g.132968026C>T, NG_028112.2:g.56671C>G, NG_028112.2:g.56671C>T, NM_015137.6:c.650C>G, NM_015137.6:c.650C>T, NM_015137.5:c.650C>G, NM_015137.5:c.650C>T, NM_015137.4:c.650C>G, NM_015137.4:c.650C>T, NM_001323555.2:c.542C>G, NM_001323555.2:c.542C>T, NM_001323555.1:c.542C>G, NM_001323555.1:c.542C>T, NM_001323554.2:c.542C>G, NM_001323554.2:c.542C>T, NM_001323554.1:c.542C>G, NM_001323554.1:c.542C>T, NR_136615.2:n.939C>G, NR_136615.2:n.939C>T, NR_136615.1:n.944C>G, NR_136615.1:n.944C>T, NR_136616.2:n.870C>G, NR_136616.2:n.870C>T, NR_136616.1:n.875C>G, NR_136616.1:n.875C>T, NM_001323553.2:c.542C>G, NM_001323553.2:c.542C>T, NM_001323553.1:c.542C>G, NM_001323553.1:c.542C>T, NM_001323558.2:c.650C>G, NM_001323558.2:c.650C>T, NM_001323558.1:c.650C>G, NM_001323558.1:c.650C>T, NM_001323557.2:c.542C>G, NM_001323557.2:c.542C>T, NM_001323557.1:c.542C>G, NM_001323557.1:c.542C>T, NM_001323556.2:c.542C>G, NM_001323556.2:c.542C>T, NM_001323556.1:c.542C>G, NM_001323556.1:c.542C>T, XM_047421603.1:c.719C>G, XM_047421603.1:c.719C>T, XM_047421604.1:c.719C>G, XM_047421604.1:c.719C>T, NP_055952.2:p.Pro217Arg, NP_055952.2:p.Pro217Leu, NP_001310484.1:p.Pro181Arg, NP_001310484.1:p.Pro181Leu, NP_001310483.1:p.Pro181Arg, NP_001310483.1:p.Pro181Leu, NP_001310482.1:p.Pro181Arg, NP_001310482.1:p.Pro181Leu, NP_001310487.1:p.Pro217Arg, NP_001310487.1:p.Pro217Leu, NP_001310486.1:p.Pro181Arg, NP_001310486.1:p.Pro181Leu, NP_001310485.1:p.Pro181Arg, NP_001310485.1:p.Pro181Leu, XP_047277559.1:p.Pro240Arg, XP_047277559.1:p.Pro240Leu, XP_047277560.1:p.Pro240Arg, XP_047277560.1:p.Pro240Leu

        4.

        rs1484363584 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->ACAAGAATTTTAA [Show Flanks]
          Chromosome:
          8:131955837 (GRCh38)
          8:132968085 (GRCh37)
          Canonical SPDI:
          NC_000008.11:131955837::ACAAGAATTTTAA
          Gene:
          EFR3A (Varview)
          Functional Consequence:
          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
          HGVS:
          NC_000008.11:g.131955837_131955838insACAAGAATTTTAA, NC_000008.10:g.132968084_132968085insACAAGAATTTTAA, NG_028112.2:g.56729_56730insACAAGAATTTTAA, NM_015137.6:c.708_709insACAAGAATTTTAA, NM_015137.5:c.708_709insACAAGAATTTTAA, NM_015137.4:c.708_709insACAAGAATTTTAA, NM_001323555.2:c.600_601insACAAGAATTTTAA, NM_001323555.1:c.600_601insACAAGAATTTTAA, NM_001323554.2:c.600_601insACAAGAATTTTAA, NM_001323554.1:c.600_601insACAAGAATTTTAA, NR_136615.2:n.997_998insACAAGAATTTTAA, NR_136615.1:n.1002_1003insACAAGAATTTTAA, NR_136616.2:n.928_929insACAAGAATTTTAA, NR_136616.1:n.933_934insACAAGAATTTTAA, NM_001323553.2:c.600_601insACAAGAATTTTAA, NM_001323553.1:c.600_601insACAAGAATTTTAA, NM_001323558.2:c.708_709insACAAGAATTTTAA, NM_001323558.1:c.708_709insACAAGAATTTTAA, NM_001323557.2:c.600_601insACAAGAATTTTAA, NM_001323557.1:c.600_601insACAAGAATTTTAA, NM_001323556.2:c.600_601insACAAGAATTTTAA, NM_001323556.1:c.600_601insACAAGAATTTTAA, XM_047421603.1:c.777_778insACAAGAATTTTAA, XM_047421604.1:c.777_778insACAAGAATTTTAA, NP_055952.2:p.Cys237fs, NP_001310484.1:p.Cys201fs, NP_001310483.1:p.Cys201fs, NP_001310482.1:p.Cys201fs, NP_001310487.1:p.Cys237fs, NP_001310486.1:p.Cys201fs, NP_001310485.1:p.Cys201fs, XP_047277559.1:p.Cys260fs, XP_047277560.1:p.Cys260fs

          5.

          rs1481340453 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:131984232 (GRCh38)
            8:132996479 (GRCh37)
            Canonical SPDI:
            NC_000008.11:131984231:C:T
            Gene:
            EFR3A (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.131984232C>T, NC_000008.10:g.132996479C>T, NG_028112.2:g.85124C>T, NM_015137.6:c.1669C>T, NM_015137.5:c.1669C>T, NM_015137.4:c.1669C>T, NM_001323555.2:c.1561C>T, NM_001323555.1:c.1561C>T, NM_001323554.2:c.1561C>T, NM_001323554.1:c.1561C>T, NR_136615.2:n.1958C>T, NR_136615.1:n.1963C>T, NR_136616.2:n.1889C>T, NR_136616.1:n.1894C>T, NM_001323553.2:c.1561C>T, NM_001323553.1:c.1561C>T, NM_001323558.2:c.1669C>T, NM_001323558.1:c.1669C>T, NM_001323557.2:c.1561C>T, NM_001323557.1:c.1561C>T, NM_001323556.2:c.1561C>T, NM_001323556.1:c.1561C>T, XM_047421603.1:c.1738C>T, XM_047421604.1:c.1738C>T, NP_055952.2:p.Leu557Phe, NP_001310484.1:p.Leu521Phe, NP_001310483.1:p.Leu521Phe, NP_001310482.1:p.Leu521Phe, NP_001310487.1:p.Leu557Phe, NP_001310486.1:p.Leu521Phe, NP_001310485.1:p.Leu521Phe, XP_047277559.1:p.Leu580Phe, XP_047277560.1:p.Leu580Phe

            6.

            rs1481017961 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:131978896 (GRCh38)
              8:132991143 (GRCh37)
              Canonical SPDI:
              NC_000008.11:131978895:C:T
              Gene:
              EFR3A (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000008.11:g.131978896C>T, NC_000008.10:g.132991143C>T, NG_028112.2:g.79788C>T, NM_015137.6:c.1376C>T, NM_015137.5:c.1376C>T, NM_015137.4:c.1376C>T, NM_001323555.2:c.1268C>T, NM_001323555.1:c.1268C>T, NM_001323554.2:c.1268C>T, NM_001323554.1:c.1268C>T, NR_136615.2:n.1665C>T, NR_136615.1:n.1670C>T, NR_136616.2:n.1596C>T, NR_136616.1:n.1601C>T, NM_001323553.2:c.1268C>T, NM_001323553.1:c.1268C>T, NM_001323558.2:c.1376C>T, NM_001323558.1:c.1376C>T, NM_001323557.2:c.1268C>T, NM_001323557.1:c.1268C>T, NM_001323556.2:c.1268C>T, NM_001323556.1:c.1268C>T, XM_047421603.1:c.1445C>T, XM_047421604.1:c.1445C>T, NP_055952.2:p.Ser459Phe, NP_001310484.1:p.Ser423Phe, NP_001310483.1:p.Ser423Phe, NP_001310482.1:p.Ser423Phe, NP_001310487.1:p.Ser459Phe, NP_001310486.1:p.Ser423Phe, NP_001310485.1:p.Ser423Phe, XP_047277559.1:p.Ser482Phe, XP_047277560.1:p.Ser482Phe

              7.

              rs1480649101 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                8:131968393 (GRCh38)
                8:132980640 (GRCh37)
                Canonical SPDI:
                NC_000008.11:131968392:G:C
                Gene:
                EFR3A (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1479830901 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  8:131987591 (GRCh38)
                  8:132999838 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:131987590:G:C
                  Gene:
                  EFR3A (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000008.11:g.131987591G>C, NC_000008.10:g.132999838G>C, NG_028112.2:g.88483G>C, NM_015137.6:c.1954G>C, NM_015137.5:c.1954G>C, NM_015137.4:c.1954G>C, NM_001323555.2:c.1846G>C, NM_001323555.1:c.1846G>C, NM_001323554.2:c.1846G>C, NM_001323554.1:c.1846G>C, NR_136615.2:n.2243G>C, NR_136615.1:n.2248G>C, NR_136616.2:n.2174G>C, NR_136616.1:n.2179G>C, NM_001323553.2:c.1846G>C, NM_001323553.1:c.1846G>C, NM_001323558.2:c.1954G>C, NM_001323558.1:c.1954G>C, NM_001323557.2:c.1846G>C, NM_001323557.1:c.1846G>C, NM_001323556.2:c.1846G>C, NM_001323556.1:c.1846G>C, XM_047421603.1:c.2023G>C, XM_047421604.1:c.2023G>C, NP_055952.2:p.Glu652Gln, NP_001310484.1:p.Glu616Gln, NP_001310483.1:p.Glu616Gln, NP_001310482.1:p.Glu616Gln, NP_001310487.1:p.Glu652Gln, NP_001310486.1:p.Glu616Gln, NP_001310485.1:p.Glu616Gln, XP_047277559.1:p.Glu675Gln, XP_047277560.1:p.Glu675Gln

                  9.

                  rs1479820308 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:131979397 (GRCh38)
                    8:132991644 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:131979396:A:G
                    Gene:
                    EFR3A (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.00005/1 (ALFA)
                    G=0.00004/1 (TOMMO)
                    HGVS:

                    10.

                    rs1479619177 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      8:131950036 (GRCh38)
                      8:132962283 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:131950035:C:G,NC_000008.11:131950035:C:T
                      Gene:
                      EFR3A (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000008.11:g.131950036C>G, NC_000008.11:g.131950036C>T, NC_000008.10:g.132962283C>G, NC_000008.10:g.132962283C>T, NG_028112.2:g.50928C>G, NG_028112.2:g.50928C>T, NM_015137.6:c.434C>G, NM_015137.6:c.434C>T, NM_015137.5:c.434C>G, NM_015137.5:c.434C>T, NM_015137.4:c.434C>G, NM_015137.4:c.434C>T, NM_001323555.2:c.326C>G, NM_001323555.2:c.326C>T, NM_001323555.1:c.326C>G, NM_001323555.1:c.326C>T, NM_001323554.2:c.326C>G, NM_001323554.2:c.326C>T, NM_001323554.1:c.326C>G, NM_001323554.1:c.326C>T, NR_136615.2:n.723C>G, NR_136615.2:n.723C>T, NR_136615.1:n.728C>G, NR_136615.1:n.728C>T, NR_136616.2:n.654C>G, NR_136616.2:n.654C>T, NR_136616.1:n.659C>G, NR_136616.1:n.659C>T, NM_001323553.2:c.326C>G, NM_001323553.2:c.326C>T, NM_001323553.1:c.326C>G, NM_001323553.1:c.326C>T, NM_001323558.2:c.434C>G, NM_001323558.2:c.434C>T, NM_001323558.1:c.434C>G, NM_001323558.1:c.434C>T, NM_001323557.2:c.326C>G, NM_001323557.2:c.326C>T, NM_001323557.1:c.326C>G, NM_001323557.1:c.326C>T, NM_001323556.2:c.326C>G, NM_001323556.2:c.326C>T, NM_001323556.1:c.326C>G, NM_001323556.1:c.326C>T, XM_047421603.1:c.503C>G, XM_047421603.1:c.503C>T, XM_047421604.1:c.503C>G, XM_047421604.1:c.503C>T, NP_055952.2:p.Ser145Cys, NP_055952.2:p.Ser145Phe, NP_001310484.1:p.Ser109Cys, NP_001310484.1:p.Ser109Phe, NP_001310483.1:p.Ser109Cys, NP_001310483.1:p.Ser109Phe, NP_001310482.1:p.Ser109Cys, NP_001310482.1:p.Ser109Phe, NP_001310487.1:p.Ser145Cys, NP_001310487.1:p.Ser145Phe, NP_001310486.1:p.Ser109Cys, NP_001310486.1:p.Ser109Phe, NP_001310485.1:p.Ser109Cys, NP_001310485.1:p.Ser109Phe, XP_047277559.1:p.Ser168Cys, XP_047277559.1:p.Ser168Phe, XP_047277560.1:p.Ser168Cys, XP_047277560.1:p.Ser168Phe

                      11.

                      rs1478846975 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        8:131996495 (GRCh38)
                        8:133008742 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:131996494:G:A,NC_000008.11:131996494:G:T
                        Gene:
                        EFR3A (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000008.11:g.131996495G>A, NC_000008.11:g.131996495G>T, NC_000008.10:g.133008742G>A, NC_000008.10:g.133008742G>T, NG_028112.2:g.97387G>A, NG_028112.2:g.97387G>T, NM_015137.6:c.2155G>A, NM_015137.6:c.2155G>T, NM_015137.5:c.2155G>A, NM_015137.5:c.2155G>T, NM_015137.4:c.2155G>A, NM_015137.4:c.2155G>T, NM_001323555.2:c.2047G>A, NM_001323555.2:c.2047G>T, NM_001323555.1:c.2047G>A, NM_001323555.1:c.2047G>T, NM_001323554.2:c.2047G>A, NM_001323554.2:c.2047G>T, NM_001323554.1:c.2047G>A, NM_001323554.1:c.2047G>T, NR_136615.2:n.2444G>A, NR_136615.2:n.2444G>T, NR_136615.1:n.2449G>A, NR_136615.1:n.2449G>T, NR_136616.2:n.2375G>A, NR_136616.2:n.2375G>T, NR_136616.1:n.2380G>A, NR_136616.1:n.2380G>T, NM_001323553.2:c.2047G>A, NM_001323553.2:c.2047G>T, NM_001323553.1:c.2047G>A, NM_001323553.1:c.2047G>T, NM_001323558.2:c.2206G>A, NM_001323558.2:c.2206G>T, NM_001323558.1:c.2206G>A, NM_001323558.1:c.2206G>T, NM_001323557.2:c.2047G>A, NM_001323557.2:c.2047G>T, NM_001323557.1:c.2047G>A, NM_001323557.1:c.2047G>T, NM_001323556.2:c.2047G>A, NM_001323556.2:c.2047G>T, NM_001323556.1:c.2047G>A, NM_001323556.1:c.2047G>T, XM_047421603.1:c.2224G>A, XM_047421603.1:c.2224G>T, XM_047421604.1:c.2224G>A, XM_047421604.1:c.2224G>T, NP_055952.2:p.Val719Met, NP_055952.2:p.Val719Leu, NP_001310484.1:p.Val683Met, NP_001310484.1:p.Val683Leu, NP_001310483.1:p.Val683Met, NP_001310483.1:p.Val683Leu, NP_001310482.1:p.Val683Met, NP_001310482.1:p.Val683Leu, NP_001310487.1:p.Val736Met, NP_001310487.1:p.Val736Leu, NP_001310486.1:p.Val683Met, NP_001310486.1:p.Val683Leu, NP_001310485.1:p.Val683Met, NP_001310485.1:p.Val683Leu, XP_047277559.1:p.Val742Met, XP_047277559.1:p.Val742Leu, XP_047277560.1:p.Val742Met, XP_047277560.1:p.Val742Leu

                        12.

                        rs1478553812 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          8:131953918 (GRCh38)
                          8:132966165 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:131953917:A:T
                          Gene:
                          EFR3A (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_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)
                          T=0.00001/2 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.131953918A>T, NC_000008.10:g.132966165A>T, NG_028112.2:g.54810A>T, NM_015137.6:c.589A>T, NM_015137.5:c.589A>T, NM_015137.4:c.589A>T, NM_001323555.2:c.481A>T, NM_001323555.1:c.481A>T, NM_001323554.2:c.481A>T, NM_001323554.1:c.481A>T, NR_136615.2:n.878A>T, NR_136615.1:n.883A>T, NR_136616.2:n.809A>T, NR_136616.1:n.814A>T, NM_001323553.2:c.481A>T, NM_001323553.1:c.481A>T, NM_001323558.2:c.589A>T, NM_001323558.1:c.589A>T, NM_001323557.2:c.481A>T, NM_001323557.1:c.481A>T, NM_001323556.2:c.481A>T, NM_001323556.1:c.481A>T, XM_047421603.1:c.658A>T, XM_047421604.1:c.658A>T, NP_055952.2:p.Ile197Phe, NP_001310484.1:p.Ile161Phe, NP_001310483.1:p.Ile161Phe, NP_001310482.1:p.Ile161Phe, NP_001310487.1:p.Ile197Phe, NP_001310486.1:p.Ile161Phe, NP_001310485.1:p.Ile161Phe, XP_047277559.1:p.Ile220Phe, XP_047277560.1:p.Ile220Phe

                          13.

                          rs1478158677 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            8:131984986 (GRCh38)
                            8:132997233 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:131984985:G:A,NC_000008.11:131984985:G:T
                            Gene:
                            EFR3A (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000008.11:g.131984986G>A, NC_000008.11:g.131984986G>T, NC_000008.10:g.132997233G>A, NC_000008.10:g.132997233G>T, NG_028112.2:g.85878G>A, NG_028112.2:g.85878G>T, NM_015137.6:c.1795G>A, NM_015137.6:c.1795G>T, NM_015137.5:c.1795G>A, NM_015137.5:c.1795G>T, NM_015137.4:c.1795G>A, NM_015137.4:c.1795G>T, NM_001323555.2:c.1687G>A, NM_001323555.2:c.1687G>T, NM_001323555.1:c.1687G>A, NM_001323555.1:c.1687G>T, NM_001323554.2:c.1687G>A, NM_001323554.2:c.1687G>T, NM_001323554.1:c.1687G>A, NM_001323554.1:c.1687G>T, NR_136615.2:n.2084G>A, NR_136615.2:n.2084G>T, NR_136615.1:n.2089G>A, NR_136615.1:n.2089G>T, NR_136616.2:n.2015G>A, NR_136616.2:n.2015G>T, NR_136616.1:n.2020G>A, NR_136616.1:n.2020G>T, NM_001323553.2:c.1687G>A, NM_001323553.2:c.1687G>T, NM_001323553.1:c.1687G>A, NM_001323553.1:c.1687G>T, NM_001323558.2:c.1795G>A, NM_001323558.2:c.1795G>T, NM_001323558.1:c.1795G>A, NM_001323558.1:c.1795G>T, NM_001323557.2:c.1687G>A, NM_001323557.2:c.1687G>T, NM_001323557.1:c.1687G>A, NM_001323557.1:c.1687G>T, NM_001323556.2:c.1687G>A, NM_001323556.2:c.1687G>T, NM_001323556.1:c.1687G>A, NM_001323556.1:c.1687G>T, XM_047421603.1:c.1864G>A, XM_047421603.1:c.1864G>T, XM_047421604.1:c.1864G>A, XM_047421604.1:c.1864G>T, NP_055952.2:p.Ala599Thr, NP_055952.2:p.Ala599Ser, NP_001310484.1:p.Ala563Thr, NP_001310484.1:p.Ala563Ser, NP_001310483.1:p.Ala563Thr, NP_001310483.1:p.Ala563Ser, NP_001310482.1:p.Ala563Thr, NP_001310482.1:p.Ala563Ser, NP_001310487.1:p.Ala599Thr, NP_001310487.1:p.Ala599Ser, NP_001310486.1:p.Ala563Thr, NP_001310486.1:p.Ala563Ser, NP_001310485.1:p.Ala563Thr, NP_001310485.1:p.Ala563Ser, XP_047277559.1:p.Ala622Thr, XP_047277559.1:p.Ala622Ser, XP_047277560.1:p.Ala622Thr, XP_047277560.1:p.Ala622Ser

                            14.

                            rs1478120692 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              8:132001777 (GRCh38)
                              8:133014024 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:132001776:A:C
                              Gene:
                              EFR3A (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000008.11:g.132001777A>C, NC_000008.10:g.133014024A>C, NG_028112.2:g.102669A>C, NM_015137.6:c.2176A>C, NM_015137.5:c.2176A>C, NM_015137.4:c.2176A>C, NM_001323555.2:c.2068A>C, NM_001323555.1:c.2068A>C, NM_001323554.2:c.2068A>C, NM_001323554.1:c.2068A>C, NR_136615.2:n.2695A>C, NR_136615.1:n.2700A>C, NR_136616.2:n.2626A>C, NR_136616.1:n.2631A>C, NM_001323553.2:c.2068A>C, NM_001323553.1:c.2068A>C, NM_001323558.2:c.2227A>C, NM_001323558.1:c.2227A>C, NM_001323557.2:c.2068A>C, NM_001323557.1:c.2068A>C, NM_001323556.2:c.2068A>C, NM_001323556.1:c.2068A>C, XM_047421603.1:c.2245A>C, NP_055952.2:p.Ile726Leu, NP_001310484.1:p.Ile690Leu, NP_001310483.1:p.Ile690Leu, NP_001310482.1:p.Ile690Leu, NP_001310487.1:p.Ile743Leu, NP_001310486.1:p.Ile690Leu, NP_001310485.1:p.Ile690Leu, XP_047277559.1:p.Ile749Leu

                              15.

                              rs1474784988 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                8:131953819 (GRCh38)
                                8:132966066 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:131953818:A:G,NC_000008.11:131953818:A:T
                                Gene:
                                EFR3A (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.00003/1 (ALFA)
                                HGVS:
                                NC_000008.11:g.131953819A>G, NC_000008.11:g.131953819A>T, NC_000008.10:g.132966066A>G, NC_000008.10:g.132966066A>T, NG_028112.2:g.54711A>G, NG_028112.2:g.54711A>T, NM_015137.6:c.490A>G, NM_015137.6:c.490A>T, NM_015137.5:c.490A>G, NM_015137.5:c.490A>T, NM_015137.4:c.490A>G, NM_015137.4:c.490A>T, NM_001323555.2:c.382A>G, NM_001323555.2:c.382A>T, NM_001323555.1:c.382A>G, NM_001323555.1:c.382A>T, NM_001323554.2:c.382A>G, NM_001323554.2:c.382A>T, NM_001323554.1:c.382A>G, NM_001323554.1:c.382A>T, NR_136615.2:n.779A>G, NR_136615.2:n.779A>T, NR_136615.1:n.784A>G, NR_136615.1:n.784A>T, NR_136616.2:n.710A>G, NR_136616.2:n.710A>T, NR_136616.1:n.715A>G, NR_136616.1:n.715A>T, NM_001323553.2:c.382A>G, NM_001323553.2:c.382A>T, NM_001323553.1:c.382A>G, NM_001323553.1:c.382A>T, NM_001323558.2:c.490A>G, NM_001323558.2:c.490A>T, NM_001323558.1:c.490A>G, NM_001323558.1:c.490A>T, NM_001323557.2:c.382A>G, NM_001323557.2:c.382A>T, NM_001323557.1:c.382A>G, NM_001323557.1:c.382A>T, NM_001323556.2:c.382A>G, NM_001323556.2:c.382A>T, NM_001323556.1:c.382A>G, NM_001323556.1:c.382A>T, XM_047421603.1:c.559A>G, XM_047421603.1:c.559A>T, XM_047421604.1:c.559A>G, XM_047421604.1:c.559A>T, NP_055952.2:p.Ile164Val, NP_055952.2:p.Ile164Leu, NP_001310484.1:p.Ile128Val, NP_001310484.1:p.Ile128Leu, NP_001310483.1:p.Ile128Val, NP_001310483.1:p.Ile128Leu, NP_001310482.1:p.Ile128Val, NP_001310482.1:p.Ile128Leu, NP_001310487.1:p.Ile164Val, NP_001310487.1:p.Ile164Leu, NP_001310486.1:p.Ile128Val, NP_001310486.1:p.Ile128Leu, NP_001310485.1:p.Ile128Val, NP_001310485.1:p.Ile128Leu, XP_047277559.1:p.Ile187Val, XP_047277559.1:p.Ile187Leu, XP_047277560.1:p.Ile187Val, XP_047277560.1:p.Ile187Leu

                                16.

                                rs1473482447 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:132002641 (GRCh38)
                                  8:133014888 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:132002640:C:T
                                  Gene:
                                  EFR3A (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.132002641C>T, NC_000008.10:g.133014888C>T, NG_028112.2:g.103533C>T, NM_015137.6:c.2245C>T, NM_015137.5:c.2245C>T, NM_015137.4:c.2245C>T, NM_001323555.2:c.2137C>T, NM_001323555.1:c.2137C>T, NM_001323554.2:c.2137C>T, NM_001323554.1:c.2137C>T, NR_136615.2:n.2764C>T, NR_136615.1:n.2769C>T, NR_136616.2:n.2695C>T, NR_136616.1:n.2700C>T, NM_001323553.2:c.2137C>T, NM_001323553.1:c.2137C>T, NM_001323558.2:c.2296C>T, NM_001323558.1:c.2296C>T, NM_001323557.2:c.2137C>T, NM_001323557.1:c.2137C>T, NM_001323556.2:c.2137C>T, NM_001323556.1:c.2137C>T, XM_047421603.1:c.2314C>T, NP_055952.2:p.Arg749Cys, NP_001310484.1:p.Arg713Cys, NP_001310483.1:p.Arg713Cys, NP_001310482.1:p.Arg713Cys, NP_001310487.1:p.Arg766Cys, NP_001310486.1:p.Arg713Cys, NP_001310485.1:p.Arg713Cys, XP_047277559.1:p.Arg772Cys

                                  17.

                                  rs1473377038 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    8:131959649 (GRCh38)
                                    8:132971896 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:131959648:A:G
                                    Gene:
                                    EFR3A (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.131959649A>G, NC_000008.10:g.132971896A>G, NG_028112.2:g.60541A>G, NM_015137.6:c.841A>G, NM_015137.5:c.841A>G, NM_015137.4:c.841A>G, NM_001323555.2:c.733A>G, NM_001323555.1:c.733A>G, NM_001323554.2:c.733A>G, NM_001323554.1:c.733A>G, NR_136615.2:n.1130A>G, NR_136615.1:n.1135A>G, NR_136616.2:n.1061A>G, NR_136616.1:n.1066A>G, NM_001323553.2:c.733A>G, NM_001323553.1:c.733A>G, NM_001323558.2:c.841A>G, NM_001323558.1:c.841A>G, NM_001323557.2:c.733A>G, NM_001323557.1:c.733A>G, NM_001323556.2:c.733A>G, NM_001323556.1:c.733A>G, XM_047421603.1:c.910A>G, XM_047421604.1:c.910A>G, NP_055952.2:p.Met281Val, NP_001310484.1:p.Met245Val, NP_001310483.1:p.Met245Val, NP_001310482.1:p.Met245Val, NP_001310487.1:p.Met281Val, NP_001310486.1:p.Met245Val, NP_001310485.1:p.Met245Val, XP_047277559.1:p.Met304Val, XP_047277560.1:p.Met304Val

                                    18.

                                    rs1473346793 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      8:131950040 (GRCh38)
                                      8:132962287 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:131950039:A:T
                                      Gene:
                                      EFR3A (Varview)
                                      Functional Consequence:
                                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1472417814 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:131970489 (GRCh38)
                                        8:132982736 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:131970488:G:A
                                        Gene:
                                        EFR3A (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1469862321 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          8:131944871 (GRCh38)
                                          8:132957118 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:131944870:G:A,NC_000008.11:131944870:G:C
                                          Gene:
                                          EFR3A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_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_000008.11:g.131944871G>A, NC_000008.11:g.131944871G>C, NC_000008.10:g.132957118G>A, NC_000008.10:g.132957118G>C, NG_028112.2:g.45763G>A, NG_028112.2:g.45763G>C, NM_015137.6:c.214G>A, NM_015137.6:c.214G>C, NM_015137.5:c.214G>A, NM_015137.5:c.214G>C, NM_015137.4:c.214G>A, NM_015137.4:c.214G>C, NM_001323555.2:c.106G>A, NM_001323555.2:c.106G>C, NM_001323555.1:c.106G>A, NM_001323555.1:c.106G>C, NM_001323554.2:c.106G>A, NM_001323554.2:c.106G>C, NM_001323554.1:c.106G>A, NM_001323554.1:c.106G>C, NR_136615.2:n.503G>A, NR_136615.2:n.503G>C, NR_136615.1:n.508G>A, NR_136615.1:n.508G>C, NR_136616.2:n.434G>A, NR_136616.2:n.434G>C, NR_136616.1:n.439G>A, NR_136616.1:n.439G>C, NM_001323553.2:c.106G>A, NM_001323553.2:c.106G>C, NM_001323553.1:c.106G>A, NM_001323553.1:c.106G>C, NM_001323558.2:c.214G>A, NM_001323558.2:c.214G>C, NM_001323558.1:c.214G>A, NM_001323558.1:c.214G>C, NM_001323557.2:c.106G>A, NM_001323557.2:c.106G>C, NM_001323557.1:c.106G>A, NM_001323557.1:c.106G>C, NM_001323556.2:c.106G>A, NM_001323556.2:c.106G>C, NM_001323556.1:c.106G>A, NM_001323556.1:c.106G>C, XM_047421603.1:c.283G>A, XM_047421603.1:c.283G>C, XM_047421604.1:c.283G>A, XM_047421604.1:c.283G>C, NP_055952.2:p.Gly72Arg, NP_055952.2:p.Gly72Arg, NP_001310484.1:p.Gly36Arg, NP_001310484.1:p.Gly36Arg, NP_001310483.1:p.Gly36Arg, NP_001310483.1:p.Gly36Arg, NP_001310482.1:p.Gly36Arg, NP_001310482.1:p.Gly36Arg, NP_001310487.1:p.Gly72Arg, NP_001310487.1:p.Gly72Arg, NP_001310486.1:p.Gly36Arg, NP_001310486.1:p.Gly36Arg, NP_001310485.1:p.Gly36Arg, NP_001310485.1:p.Gly36Arg, XP_047277559.1:p.Gly95Arg, XP_047277559.1:p.Gly95Arg, XP_047277560.1:p.Gly95Arg, XP_047277560.1:p.Gly95Arg

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