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Items: 1 to 20 of 158

1.

rs1487004753 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    1:44339150 (GRCh38)
    1:44804822 (GRCh37)
    Canonical SPDI:
    NC_000001.11:44339149:A:C
    Gene:
    ERI3 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000066/2 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.44339150A>C, NC_000001.10:g.44804822A>C, NM_024066.3:c.384T>G, NM_024066.2:c.384T>G, NM_024066.1:c.384T>G, XM_005271186.3:c.384T>G, XM_005271186.2:c.384T>G, XM_005271186.1:c.384T>G, XM_017002303.3:c.150T>G, XM_017002303.2:c.150T>G, XM_017002303.1:c.150T>G, XM_017002301.2:c.378T>G, XM_017002301.1:c.378T>G, NM_001301698.2:c.150T>G, NM_001301698.1:c.150T>G, XM_024449712.2:c.150T>G, XM_024449712.1:c.150T>G, XM_017002302.2:c.150T>G, XM_017002302.1:c.150T>G, XM_047430146.1:c.297T>G, XM_047430139.1:c.438T>G, NM_001301699.1:c.150T>G, XM_047430144.1:c.150T>G, NM_001301700.1:c.150T>G, XM_047430152.1:c.150T>G, NP_076971.1:p.Phe128Leu, XP_005271243.1:p.Phe128Leu, XP_016857792.1:p.Phe50Leu, XP_016857790.1:p.Phe126Leu, NP_001288627.1:p.Phe50Leu, XP_024305480.1:p.Phe50Leu, XP_016857791.1:p.Phe50Leu, XP_047286102.1:p.Phe99Leu, XP_047286095.1:p.Phe146Leu, NP_001288628.1:p.Phe50Leu, XP_047286100.1:p.Phe50Leu, NP_001288629.1:p.Phe50Leu, XP_047286108.1:p.Phe50Leu

    2.

    rs1485999594 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:44339280 (GRCh38)
      1:44804952 (GRCh37)
      Canonical SPDI:
      NC_000001.11:44339279:G:A
      Gene:
      ERI3 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.44339280G>A, NC_000001.10:g.44804952G>A, NM_024066.3:c.254C>T, NM_024066.2:c.254C>T, NM_024066.1:c.254C>T, XM_005271186.3:c.254C>T, XM_005271186.2:c.254C>T, XM_005271186.1:c.254C>T, XM_017002303.3:c.20C>T, XM_017002303.2:c.20C>T, XM_017002303.1:c.20C>T, XM_017002301.2:c.248C>T, XM_017002301.1:c.248C>T, NM_001301698.2:c.20C>T, NM_001301698.1:c.20C>T, XM_024449712.2:c.20C>T, XM_024449712.1:c.20C>T, XM_017002302.2:c.20C>T, XM_017002302.1:c.20C>T, XM_047430146.1:c.167C>T, XM_047430139.1:c.308C>T, NM_001301699.1:c.20C>T, XM_047430144.1:c.20C>T, NM_001301700.1:c.20C>T, XM_047430152.1:c.20C>T, NP_076971.1:p.Thr85Ile, XP_005271243.1:p.Thr85Ile, XP_016857792.1:p.Thr7Ile, XP_016857790.1:p.Thr83Ile, NP_001288627.1:p.Thr7Ile, XP_024305480.1:p.Thr7Ile, XP_016857791.1:p.Thr7Ile, XP_047286102.1:p.Thr56Ile, XP_047286095.1:p.Thr103Ile, NP_001288628.1:p.Thr7Ile, XP_047286100.1:p.Thr7Ile, NP_001288629.1:p.Thr7Ile, XP_047286108.1:p.Thr7Ile

      3.

      rs1475412945 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:44339169 (GRCh38)
        1:44804841 (GRCh37)
        Canonical SPDI:
        NC_000001.11:44339168:T:C
        Gene:
        ERI3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.44339169T>C, NC_000001.10:g.44804841T>C, NM_024066.3:c.365A>G, NM_024066.2:c.365A>G, NM_024066.1:c.365A>G, XM_005271186.3:c.365A>G, XM_005271186.2:c.365A>G, XM_005271186.1:c.365A>G, XM_017002303.3:c.131A>G, XM_017002303.2:c.131A>G, XM_017002303.1:c.131A>G, XM_017002301.2:c.359A>G, XM_017002301.1:c.359A>G, NM_001301698.2:c.131A>G, NM_001301698.1:c.131A>G, XM_024449712.2:c.131A>G, XM_024449712.1:c.131A>G, XM_017002302.2:c.131A>G, XM_017002302.1:c.131A>G, XM_047430146.1:c.278A>G, XM_047430139.1:c.419A>G, NM_001301699.1:c.131A>G, XM_047430144.1:c.131A>G, NM_001301700.1:c.131A>G, XM_047430152.1:c.131A>G, NP_076971.1:p.Lys122Arg, XP_005271243.1:p.Lys122Arg, XP_016857792.1:p.Lys44Arg, XP_016857790.1:p.Lys120Arg, NP_001288627.1:p.Lys44Arg, XP_024305480.1:p.Lys44Arg, XP_016857791.1:p.Lys44Arg, XP_047286102.1:p.Lys93Arg, XP_047286095.1:p.Lys140Arg, NP_001288628.1:p.Lys44Arg, XP_047286100.1:p.Lys44Arg, NP_001288629.1:p.Lys44Arg, XP_047286108.1:p.Lys44Arg

        4.

        rs1473533954 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:44339131 (GRCh38)
          1:44804803 (GRCh37)
          Canonical SPDI:
          NC_000001.11:44339130:T:C
          Gene:
          ERI3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          NC_000001.11:g.44339131T>C, NC_000001.10:g.44804803T>C, NM_024066.3:c.403A>G, NM_024066.2:c.403A>G, NM_024066.1:c.403A>G, XM_005271186.3:c.403A>G, XM_005271186.2:c.403A>G, XM_005271186.1:c.403A>G, XM_017002303.3:c.169A>G, XM_017002303.2:c.169A>G, XM_017002303.1:c.169A>G, XM_017002301.2:c.397A>G, XM_017002301.1:c.397A>G, NM_001301698.2:c.169A>G, NM_001301698.1:c.169A>G, XM_024449712.2:c.169A>G, XM_024449712.1:c.169A>G, XM_017002302.2:c.169A>G, XM_017002302.1:c.169A>G, XM_047430146.1:c.316A>G, XM_047430139.1:c.457A>G, NM_001301699.1:c.169A>G, XM_047430144.1:c.169A>G, NM_001301700.1:c.169A>G, XM_047430152.1:c.169A>G, NP_076971.1:p.Met135Val, XP_005271243.1:p.Met135Val, XP_016857792.1:p.Met57Val, XP_016857790.1:p.Met133Val, NP_001288627.1:p.Met57Val, XP_024305480.1:p.Met57Val, XP_016857791.1:p.Met57Val, XP_047286102.1:p.Met106Val, XP_047286095.1:p.Met153Val, NP_001288628.1:p.Met57Val, XP_047286100.1:p.Met57Val, NP_001288629.1:p.Met57Val, XP_047286108.1:p.Met57Val

          5.

          rs1469172906 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:44339045 (GRCh38)
            1:44804717 (GRCh37)
            Canonical SPDI:
            NC_000001.11:44339044:C:T
            Gene:
            ERI3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1461962887 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:44308336 (GRCh38)
              1:44774008 (GRCh37)
              Canonical SPDI:
              NC_000001.11:44308335:G:T
              Gene:
              ERI3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1461723758 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:44339098 (GRCh38)
                1:44804770 (GRCh37)
                Canonical SPDI:
                NC_000001.11:44339097:A:G
                Gene:
                ERI3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.44339098A>G, NC_000001.10:g.44804770A>G, NM_024066.3:c.436T>C, NM_024066.2:c.436T>C, NM_024066.1:c.436T>C, XM_005271186.3:c.436T>C, XM_005271186.2:c.436T>C, XM_005271186.1:c.436T>C, XM_017002303.3:c.202T>C, XM_017002303.2:c.202T>C, XM_017002303.1:c.202T>C, XM_017002301.2:c.430T>C, XM_017002301.1:c.430T>C, NM_001301698.2:c.202T>C, NM_001301698.1:c.202T>C, XM_024449712.2:c.202T>C, XM_024449712.1:c.202T>C, XM_017002302.2:c.202T>C, XM_017002302.1:c.202T>C, XM_047430146.1:c.349T>C, XM_047430139.1:c.490T>C, NM_001301699.1:c.202T>C, XM_047430144.1:c.202T>C, NM_001301700.1:c.202T>C, XM_047430152.1:c.202T>C, NP_076971.1:p.Phe146Leu, XP_005271243.1:p.Phe146Leu, XP_016857792.1:p.Phe68Leu, XP_016857790.1:p.Phe144Leu, NP_001288627.1:p.Phe68Leu, XP_024305480.1:p.Phe68Leu, XP_016857791.1:p.Phe68Leu, XP_047286102.1:p.Phe117Leu, XP_047286095.1:p.Phe164Leu, NP_001288628.1:p.Phe68Leu, XP_047286100.1:p.Phe68Leu, NP_001288629.1:p.Phe68Leu, XP_047286108.1:p.Phe68Leu

                8.

                rs1460867530 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:44339151 (GRCh38)
                  1:44804823 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:44339150:A:C
                  Gene:
                  ERI3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000001.11:g.44339151A>C, NC_000001.10:g.44804823A>C, NM_024066.3:c.383T>G, NM_024066.2:c.383T>G, NM_024066.1:c.383T>G, XM_005271186.3:c.383T>G, XM_005271186.2:c.383T>G, XM_005271186.1:c.383T>G, XM_017002303.3:c.149T>G, XM_017002303.2:c.149T>G, XM_017002303.1:c.149T>G, XM_017002301.2:c.377T>G, XM_017002301.1:c.377T>G, NM_001301698.2:c.149T>G, NM_001301698.1:c.149T>G, XM_024449712.2:c.149T>G, XM_024449712.1:c.149T>G, XM_017002302.2:c.149T>G, XM_017002302.1:c.149T>G, XM_047430146.1:c.296T>G, XM_047430139.1:c.437T>G, NM_001301699.1:c.149T>G, XM_047430144.1:c.149T>G, NM_001301700.1:c.149T>G, XM_047430152.1:c.149T>G, NP_076971.1:p.Phe128Cys, XP_005271243.1:p.Phe128Cys, XP_016857792.1:p.Phe50Cys, XP_016857790.1:p.Phe126Cys, NP_001288627.1:p.Phe50Cys, XP_024305480.1:p.Phe50Cys, XP_016857791.1:p.Phe50Cys, XP_047286102.1:p.Phe99Cys, XP_047286095.1:p.Phe146Cys, NP_001288628.1:p.Phe50Cys, XP_047286100.1:p.Phe50Cys, NP_001288629.1:p.Phe50Cys, XP_047286108.1:p.Phe50Cys

                  9.

                  rs1455062124 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    1:44339194 (GRCh38)
                    1:44804866 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:44339193:C:A,NC_000001.11:44339193:C:T
                    Gene:
                    ERI3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant,stop_gained
                    HGVS:
                    NC_000001.11:g.44339194C>A, NC_000001.11:g.44339194C>T, NC_000001.10:g.44804866C>A, NC_000001.10:g.44804866C>T, NM_024066.3:c.340G>T, NM_024066.3:c.340G>A, NM_024066.2:c.340G>T, NM_024066.2:c.340G>A, NM_024066.1:c.340G>T, NM_024066.1:c.340G>A, XM_005271186.3:c.340G>T, XM_005271186.3:c.340G>A, XM_005271186.2:c.340G>T, XM_005271186.2:c.340G>A, XM_005271186.1:c.340G>T, XM_005271186.1:c.340G>A, XM_017002303.3:c.106G>T, XM_017002303.3:c.106G>A, XM_017002303.2:c.106G>T, XM_017002303.2:c.106G>A, XM_017002303.1:c.106G>T, XM_017002303.1:c.106G>A, XM_017002301.2:c.334G>T, XM_017002301.2:c.334G>A, XM_017002301.1:c.334G>T, XM_017002301.1:c.334G>A, NM_001301698.2:c.106G>T, NM_001301698.2:c.106G>A, NM_001301698.1:c.106G>T, NM_001301698.1:c.106G>A, XM_024449712.2:c.106G>T, XM_024449712.2:c.106G>A, XM_024449712.1:c.106G>T, XM_024449712.1:c.106G>A, XM_017002302.2:c.106G>T, XM_017002302.2:c.106G>A, XM_017002302.1:c.106G>T, XM_017002302.1:c.106G>A, XM_047430146.1:c.253G>T, XM_047430146.1:c.253G>A, XM_047430139.1:c.394G>T, XM_047430139.1:c.394G>A, NM_001301699.1:c.106G>T, NM_001301699.1:c.106G>A, XM_047430144.1:c.106G>T, XM_047430144.1:c.106G>A, NM_001301700.1:c.106G>T, NM_001301700.1:c.106G>A, XM_047430152.1:c.106G>T, XM_047430152.1:c.106G>A, NP_076971.1:p.Glu114Ter, NP_076971.1:p.Glu114Lys, XP_005271243.1:p.Glu114Ter, XP_005271243.1:p.Glu114Lys, XP_016857792.1:p.Glu36Ter, XP_016857792.1:p.Glu36Lys, XP_016857790.1:p.Glu112Ter, XP_016857790.1:p.Glu112Lys, NP_001288627.1:p.Glu36Ter, NP_001288627.1:p.Glu36Lys, XP_024305480.1:p.Glu36Ter, XP_024305480.1:p.Glu36Lys, XP_016857791.1:p.Glu36Ter, XP_016857791.1:p.Glu36Lys, XP_047286102.1:p.Glu85Ter, XP_047286102.1:p.Glu85Lys, XP_047286095.1:p.Glu132Ter, XP_047286095.1:p.Glu132Lys, NP_001288628.1:p.Glu36Ter, NP_001288628.1:p.Glu36Lys, XP_047286100.1:p.Glu36Ter, XP_047286100.1:p.Glu36Lys, NP_001288629.1:p.Glu36Ter, NP_001288629.1:p.Glu36Lys, XP_047286108.1:p.Glu36Ter, XP_047286108.1:p.Glu36Lys

                    10.

                    rs1439055030 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:44319653 (GRCh38)
                      1:44785325 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:44319652:G:C
                      Gene:
                      ERI3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.44319653G>C, NC_000001.10:g.44785325G>C, NM_024066.3:c.581C>G, NM_024066.2:c.581C>G, NM_024066.1:c.581C>G, XM_005271186.3:c.581C>G, XM_005271186.2:c.581C>G, XM_005271186.1:c.581C>G, XM_017002303.3:c.347C>G, XM_017002303.2:c.347C>G, XM_017002303.1:c.347C>G, XM_017002304.3:c.227C>G, XM_017002304.2:c.227C>G, XM_017002304.1:c.227C>G, XM_017002301.2:c.575C>G, XM_017002301.1:c.575C>G, NM_001301698.2:c.347C>G, NM_001301698.1:c.347C>G, XM_024449712.2:c.347C>G, XM_024449712.1:c.347C>G, XM_017002302.2:c.347C>G, XM_017002302.1:c.347C>G, XM_017002305.2:c.50C>G, XM_017002305.1:c.50C>G, XM_047430146.1:c.494C>G, XM_047430139.1:c.635C>G, NM_001301699.1:c.347C>G, XM_047430144.1:c.347C>G, NM_001301700.1:c.347C>G, XM_047430152.1:c.347C>G, NM_001301701.1:c.50C>G, NP_076971.1:p.Pro194Arg, XP_005271243.1:p.Pro194Arg, XP_016857792.1:p.Pro116Arg, XP_016857793.1:p.Pro76Arg, XP_016857790.1:p.Pro192Arg, NP_001288627.1:p.Pro116Arg, XP_024305480.1:p.Pro116Arg, XP_016857791.1:p.Pro116Arg, XP_016857794.1:p.Pro17Arg, XP_047286102.1:p.Pro165Arg, XP_047286095.1:p.Pro212Arg, NP_001288628.1:p.Pro116Arg, XP_047286100.1:p.Pro116Arg, NP_001288629.1:p.Pro116Arg, XP_047286108.1:p.Pro116Arg, NP_001288630.1:p.Pro17Arg

                      11.

                      rs1431719220 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:44284853 (GRCh38)
                        1:44750525 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:44284852:C:T
                        Gene:
                        ERI3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1430387130 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          1:44339054 (GRCh38)
                          1:44804726 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:44339053:A:C,NC_000001.11:44339053:A:G
                          Gene:
                          ERI3 (Varview)
                          Functional Consequence:
                          synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.44339054A>C, NC_000001.11:g.44339054A>G, NC_000001.10:g.44804726A>C, NC_000001.10:g.44804726A>G, NM_024066.3:c.480T>G, NM_024066.3:c.480T>C, NM_024066.2:c.480T>G, NM_024066.2:c.480T>C, NM_024066.1:c.480T>G, NM_024066.1:c.480T>C, XM_005271186.3:c.480T>G, XM_005271186.3:c.480T>C, XM_005271186.2:c.480T>G, XM_005271186.2:c.480T>C, XM_005271186.1:c.480T>G, XM_005271186.1:c.480T>C, XM_017002303.3:c.246T>G, XM_017002303.3:c.246T>C, XM_017002303.2:c.246T>G, XM_017002303.2:c.246T>C, XM_017002303.1:c.246T>G, XM_017002303.1:c.246T>C, XM_017002301.2:c.474T>G, XM_017002301.2:c.474T>C, XM_017002301.1:c.474T>G, XM_017002301.1:c.474T>C, NM_001301698.2:c.246T>G, NM_001301698.2:c.246T>C, NM_001301698.1:c.246T>G, NM_001301698.1:c.246T>C, XM_024449712.2:c.246T>G, XM_024449712.2:c.246T>C, XM_024449712.1:c.246T>G, XM_024449712.1:c.246T>C, XM_017002302.2:c.246T>G, XM_017002302.2:c.246T>C, XM_017002302.1:c.246T>G, XM_017002302.1:c.246T>C, XM_047430146.1:c.393T>G, XM_047430146.1:c.393T>C, XM_047430139.1:c.534T>G, XM_047430139.1:c.534T>C, NM_001301699.1:c.246T>G, NM_001301699.1:c.246T>C, XM_047430144.1:c.246T>G, XM_047430144.1:c.246T>C, NM_001301700.1:c.246T>G, NM_001301700.1:c.246T>C, XM_047430152.1:c.246T>G, XM_047430152.1:c.246T>C, NP_076971.1:p.Ile160Met, XP_005271243.1:p.Ile160Met, XP_016857792.1:p.Ile82Met, XP_016857790.1:p.Ile158Met, NP_001288627.1:p.Ile82Met, XP_024305480.1:p.Ile82Met, XP_016857791.1:p.Ile82Met, XP_047286102.1:p.Ile131Met, XP_047286095.1:p.Ile178Met, NP_001288628.1:p.Ile82Met, XP_047286100.1:p.Ile82Met, NP_001288629.1:p.Ile82Met, XP_047286108.1:p.Ile82Met

                          13.

                          rs1428045631 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:44339235 (GRCh38)
                            1:44804907 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:44339234:T:C
                            Gene:
                            ERI3 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.44339235T>C, NC_000001.10:g.44804907T>C, NM_024066.3:c.299A>G, NM_024066.2:c.299A>G, NM_024066.1:c.299A>G, XM_005271186.3:c.299A>G, XM_005271186.2:c.299A>G, XM_005271186.1:c.299A>G, XM_017002303.3:c.65A>G, XM_017002303.2:c.65A>G, XM_017002303.1:c.65A>G, XM_017002301.2:c.293A>G, XM_017002301.1:c.293A>G, NM_001301698.2:c.65A>G, NM_001301698.1:c.65A>G, XM_024449712.2:c.65A>G, XM_024449712.1:c.65A>G, XM_017002302.2:c.65A>G, XM_017002302.1:c.65A>G, XM_047430146.1:c.212A>G, XM_047430139.1:c.353A>G, NM_001301699.1:c.65A>G, XM_047430144.1:c.65A>G, NM_001301700.1:c.65A>G, XM_047430152.1:c.65A>G, NP_076971.1:p.Lys100Arg, XP_005271243.1:p.Lys100Arg, XP_016857792.1:p.Lys22Arg, XP_016857790.1:p.Lys98Arg, NP_001288627.1:p.Lys22Arg, XP_024305480.1:p.Lys22Arg, XP_016857791.1:p.Lys22Arg, XP_047286102.1:p.Lys71Arg, XP_047286095.1:p.Lys118Arg, NP_001288628.1:p.Lys22Arg, XP_047286100.1:p.Lys22Arg, NP_001288629.1:p.Lys22Arg, XP_047286108.1:p.Lys22Arg

                            14.

                            rs1420606364 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:44339295 (GRCh38)
                              1:44804967 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:44339294:A:G
                              Gene:
                              ERI3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.0001/1 (ALFA)
                              HGVS:
                              NC_000001.11:g.44339295A>G, NC_000001.10:g.44804967A>G, NM_024066.3:c.239T>C, NM_024066.2:c.239T>C, NM_024066.1:c.239T>C, XM_005271186.3:c.239T>C, XM_005271186.2:c.239T>C, XM_005271186.1:c.239T>C, XM_017002303.3:c.5T>C, XM_017002303.2:c.5T>C, XM_017002303.1:c.5T>C, XM_017002301.2:c.233T>C, XM_017002301.1:c.233T>C, NM_001301698.2:c.5T>C, NM_001301698.1:c.5T>C, XM_024449712.2:c.5T>C, XM_024449712.1:c.5T>C, XM_017002302.2:c.5T>C, XM_017002302.1:c.5T>C, XM_047430146.1:c.152T>C, XM_047430139.1:c.293T>C, NM_001301699.1:c.5T>C, XM_047430144.1:c.5T>C, NM_001301700.1:c.5T>C, XM_047430152.1:c.5T>C, NP_076971.1:p.Leu80Pro, XP_005271243.1:p.Leu80Pro, XP_016857792.1:p.Leu2Pro, XP_016857790.1:p.Leu78Pro, NP_001288627.1:p.Leu2Pro, XP_024305480.1:p.Leu2Pro, XP_016857791.1:p.Leu2Pro, XP_047286102.1:p.Leu51Pro, XP_047286095.1:p.Leu98Pro, NP_001288628.1:p.Leu2Pro, XP_047286100.1:p.Leu2Pro, NP_001288629.1:p.Leu2Pro, XP_047286108.1:p.Leu2Pro

                              15.

                              rs1419886419 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:44339165 (GRCh38)
                                1:44804837 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:44339164:C:T
                                Gene:
                                ERI3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1409996204 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  1:44319633 (GRCh38)
                                  1:44785305 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:44319632:T:A
                                  Gene:
                                  ERI3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.44319633T>A, NC_000001.10:g.44785305T>A, NM_024066.3:c.601A>T, NM_024066.2:c.601A>T, NM_024066.1:c.601A>T, XM_005271186.3:c.601A>T, XM_005271186.2:c.601A>T, XM_005271186.1:c.601A>T, XM_017002303.3:c.367A>T, XM_017002303.2:c.367A>T, XM_017002303.1:c.367A>T, XM_017002304.3:c.247A>T, XM_017002304.2:c.247A>T, XM_017002304.1:c.247A>T, XM_017002301.2:c.595A>T, XM_017002301.1:c.595A>T, NM_001301698.2:c.367A>T, NM_001301698.1:c.367A>T, XM_024449712.2:c.367A>T, XM_024449712.1:c.367A>T, XM_017002302.2:c.367A>T, XM_017002302.1:c.367A>T, XM_017002305.2:c.70A>T, XM_017002305.1:c.70A>T, XM_047430146.1:c.514A>T, XM_047430139.1:c.655A>T, NM_001301699.1:c.367A>T, XM_047430144.1:c.367A>T, NM_001301700.1:c.367A>T, XM_047430152.1:c.367A>T, NM_001301701.1:c.70A>T, NP_076971.1:p.Thr201Ser, XP_005271243.1:p.Thr201Ser, XP_016857792.1:p.Thr123Ser, XP_016857793.1:p.Thr83Ser, XP_016857790.1:p.Thr199Ser, NP_001288627.1:p.Thr123Ser, XP_024305480.1:p.Thr123Ser, XP_016857791.1:p.Thr123Ser, XP_016857794.1:p.Thr24Ser, XP_047286102.1:p.Thr172Ser, XP_047286095.1:p.Thr219Ser, NP_001288628.1:p.Thr123Ser, XP_047286100.1:p.Thr123Ser, NP_001288629.1:p.Thr123Ser, XP_047286108.1:p.Thr123Ser, NP_001288630.1:p.Thr24Ser

                                  17.

                                  rs1406568845 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:44248027 (GRCh38)
                                    1:44713699 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:44248026:G:A
                                    Gene:
                                    ERI3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1406405056 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:44248018 (GRCh38)
                                      1:44713690 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:44248017:G:A
                                      Gene:
                                      ERI3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1398650985 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AGCT>- [Show Flanks]
                                        Chromosome:
                                        1:44339270 (GRCh38)
                                        1:44804942 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:44339269:AGCT:
                                        Gene:
                                        ERI3 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.44339270_44339273del, NC_000001.10:g.44804942_44804945del, NM_024066.3:c.261_264del, NM_024066.2:c.261_264del, NM_024066.1:c.261_264del, XM_005271186.3:c.261_264del, XM_005271186.2:c.261_264del, XM_005271186.1:c.261_264del, XM_017002303.3:c.27_30del, XM_017002303.2:c.27_30del, XM_017002303.1:c.27_30del, XM_017002301.2:c.255_258del, XM_017002301.1:c.255_258del, NM_001301698.2:c.27_30del, NM_001301698.1:c.27_30del, XM_024449712.2:c.27_30del, XM_024449712.1:c.27_30del, XM_017002302.2:c.27_30del, XM_017002302.1:c.27_30del, XM_047430146.1:c.174_177del, XM_047430139.1:c.315_318del, NM_001301699.1:c.27_30del, XM_047430144.1:c.27_30del, NM_001301700.1:c.27_30del, XM_047430152.1:c.27_30del, NP_076971.1:p.Ala88fs, XP_005271243.1:p.Ala88fs, XP_016857792.1:p.Ala10fs, XP_016857790.1:p.Ala86fs, NP_001288627.1:p.Ala10fs, XP_024305480.1:p.Ala10fs, XP_016857791.1:p.Ala10fs, XP_047286102.1:p.Ala59fs, XP_047286095.1:p.Ala106fs, NP_001288628.1:p.Ala10fs, XP_047286100.1:p.Ala10fs, NP_001288629.1:p.Ala10fs, XP_047286108.1:p.Ala10fs

                                        20.

                                        rs1397546240 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:44339207 (GRCh38)
                                          1:44804879 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:44339206:G:A
                                          Gene:
                                          ERI3 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000012/3 (GnomAD_exomes)
                                          HGVS:

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