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Items: 1 to 20 of 434

1.

rs1489759924 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    21:32412864 (GRCh38)
    21:33785172 (GRCh37)
    Canonical SPDI:
    NC_000021.9:32412863:C:T
    Gene:
    EVA1C (Varview)
    Functional Consequence:
    intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.0002/2 (ALFA)
    HGVS:
    NC_000021.9:g.32412864C>T, NC_000021.8:g.33785172C>T, NM_058187.5:c.11C>T, NM_058187.4:c.11C>T, NM_058187.3:c.11C>T, XM_005261019.5:c.11C>T, XM_005261019.4:c.11C>T, XM_005261019.3:c.11C>T, XM_005261019.2:c.11C>T, XM_005261019.1:c.11C>T, XM_006724038.4:c.11C>T, XM_006724038.3:c.11C>T, XM_006724038.2:c.11C>T, XM_006724038.1:c.11C>T, NR_135467.2:n.159C>T, NR_135467.1:n.484C>T, XM_017028418.2:c.11C>T, XM_017028418.1:c.11C>T, NM_001286556.2:c.11C>T, NM_001286556.1:c.11C>T, XM_017028419.2:c.11C>T, XM_017028419.1:c.11C>T, NR_104472.2:n.159C>T, NR_104472.1:n.428C>T, NM_001320744.2:c.11C>T, NM_001320744.1:c.11C>T, XM_017028422.2:c.11C>T, XM_017028422.1:c.11C>T, XM_017028423.2:c.11C>T, XM_017028423.1:c.11C>T, XR_001754885.2:n.159C>T, XR_001754885.1:n.549C>T, XM_047440933.1:c.11C>T, XM_047440934.1:c.11C>T, NP_478067.2:p.Pro4Leu, XP_005261076.1:p.Pro4Leu, XP_006724101.1:p.Pro4Leu, XP_016883907.1:p.Pro4Leu, NP_001273485.1:p.Pro4Leu, XP_016883908.1:p.Pro4Leu, NP_001307673.1:p.Pro4Leu, XP_016883911.1:p.Pro4Leu, XP_016883912.1:p.Pro4Leu, XP_047296889.1:p.Pro4Leu, XP_047296890.1:p.Pro4Leu

    2.

    rs1487791488 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      21:32457658 (GRCh38)
      21:33829966 (GRCh37)
      Canonical SPDI:
      NC_000021.9:32457657:T:C
      Gene:
      EVA1C (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000021.9:g.32457658T>C, NC_000021.8:g.33829966T>C, NM_058187.5:c.419T>C, NM_058187.4:c.419T>C, NM_058187.3:c.419T>C, XM_005261019.5:c.419T>C, XM_005261019.4:c.419T>C, XM_005261019.3:c.419T>C, XM_005261019.2:c.419T>C, XM_005261019.1:c.419T>C, XM_011529669.4:c.134T>C, XM_011529669.3:c.134T>C, XM_011529669.2:c.134T>C, XM_011529669.1:c.134T>C, XM_006724038.4:c.419T>C, XM_006724038.3:c.419T>C, XM_006724038.2:c.419T>C, XM_006724038.1:c.419T>C, XM_017028420.2:c.134T>C, XM_017028420.1:c.134T>C, NM_001320745.2:c.134T>C, NM_001320745.1:c.134T>C, NR_135467.2:n.567T>C, NR_135467.1:n.892T>C, XM_017028418.2:c.416T>C, XM_017028418.1:c.416T>C, NM_001286556.2:c.419T>C, NM_001286556.1:c.419T>C, XM_017028419.2:c.419T>C, XM_017028419.1:c.419T>C, NR_104472.2:n.370T>C, NR_104472.1:n.639T>C, XR_001754885.2:n.567T>C, XR_001754885.1:n.957T>C, XM_047440933.1:c.416T>C, XM_047440934.1:c.419T>C, NP_478067.2:p.Phe140Ser, XP_005261076.1:p.Phe140Ser, XP_011527971.1:p.Phe45Ser, XP_006724101.1:p.Phe140Ser, XP_016883909.1:p.Phe45Ser, NP_001307674.1:p.Phe45Ser, XP_016883907.1:p.Phe139Ser, NP_001273485.1:p.Phe140Ser, XP_016883908.1:p.Phe140Ser, XP_047296889.1:p.Phe139Ser, XP_047296890.1:p.Phe140Ser

      3.

      rs1486609956 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        21:32501468 (GRCh38)
        21:33873778 (GRCh37)
        Canonical SPDI:
        NC_000021.9:32501467:T:G
        Gene:
        EVA1C (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000011/3 (TOPMED)
        HGVS:
        NC_000021.9:g.32501468T>G, NC_000021.8:g.33873778T>G, NM_058187.5:c.832T>G, NM_058187.4:c.832T>G, NM_058187.3:c.832T>G, XM_011529669.4:c.547T>G, XM_011529669.3:c.547T>G, XM_011529669.2:c.547T>G, XM_011529669.1:c.547T>G, XM_006724038.4:c.829T>G, XM_006724038.3:c.829T>G, XM_006724038.2:c.829T>G, XM_006724038.1:c.829T>G, XM_017028420.2:c.547T>G, XM_017028420.1:c.547T>G, NM_001320745.2:c.547T>G, NM_001320745.1:c.547T>G, NR_135467.2:n.980T>G, NR_135467.1:n.1305T>G, XM_017028418.2:c.829T>G, XM_017028418.1:c.829T>G, NM_001286556.2:c.832T>G, NM_001286556.1:c.832T>G, NR_104472.2:n.783T>G, NR_104472.1:n.1052T>G, NM_001320744.2:c.511T>G, NM_001320744.1:c.511T>G, XM_017028422.2:c.511T>G, XM_017028422.1:c.511T>G, XM_047440933.1:c.829T>G, XM_047440934.1:c.832T>G, NP_478067.2:p.Ser278Ala, XP_011527971.1:p.Ser183Ala, XP_006724101.1:p.Ser277Ala, XP_016883909.1:p.Ser183Ala, NP_001307674.1:p.Ser183Ala, XP_016883907.1:p.Ser277Ala, NP_001273485.1:p.Ser278Ala, NP_001307673.1:p.Ser171Ala, XP_016883911.1:p.Ser171Ala, XP_047296889.1:p.Ser277Ala, XP_047296890.1:p.Ser278Ala

        4.

        rs1486223671 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          21:32495066 (GRCh38)
          21:33867376 (GRCh37)
          Canonical SPDI:
          NC_000021.9:32495065:G:A
          Gene:
          EVA1C (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000021.9:g.32495066G>A, NC_000021.8:g.33867376G>A, NG_081838.1:g.421G>A, NM_058187.5:c.674G>A, NM_058187.4:c.674G>A, NM_058187.3:c.674G>A, XM_005261019.5:c.674G>A, XM_005261019.4:c.674G>A, XM_005261019.3:c.674G>A, XM_005261019.2:c.674G>A, XM_005261019.1:c.674G>A, XM_011529669.4:c.389G>A, XM_011529669.3:c.389G>A, XM_011529669.2:c.389G>A, XM_011529669.1:c.389G>A, XM_006724038.4:c.671G>A, XM_006724038.3:c.671G>A, XM_006724038.2:c.671G>A, XM_006724038.1:c.671G>A, XM_017028420.2:c.389G>A, XM_017028420.1:c.389G>A, NM_001320745.2:c.389G>A, NM_001320745.1:c.389G>A, NR_135467.2:n.822G>A, NR_135467.1:n.1147G>A, XM_017028418.2:c.671G>A, XM_017028418.1:c.671G>A, NM_001286556.2:c.674G>A, NM_001286556.1:c.674G>A, XM_017028419.2:c.674G>A, XM_017028419.1:c.674G>A, NR_104472.2:n.625G>A, NR_104472.1:n.894G>A, NM_001320744.2:c.353G>A, NM_001320744.1:c.353G>A, XM_017028422.2:c.353G>A, XM_017028422.1:c.353G>A, XM_017028423.2:c.353G>A, XM_017028423.1:c.353G>A, XR_001754885.2:n.1036G>A, XR_001754885.1:n.1426G>A, XM_047440933.1:c.671G>A, XM_047440934.1:c.674G>A, NP_478067.2:p.Arg225Lys, XP_005261076.1:p.Arg225Lys, XP_011527971.1:p.Arg130Lys, XP_006724101.1:p.Arg224Lys, XP_016883909.1:p.Arg130Lys, NP_001307674.1:p.Arg130Lys, XP_016883907.1:p.Arg224Lys, NP_001273485.1:p.Arg225Lys, XP_016883908.1:p.Arg225Lys, NP_001307673.1:p.Arg118Lys, XP_016883911.1:p.Arg118Lys, XP_016883912.1:p.Arg118Lys, XP_047296889.1:p.Arg224Lys, XP_047296890.1:p.Arg225Lys

          5.

          rs1484740860 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:32453346 (GRCh38)
            21:33825654 (GRCh37)
            Canonical SPDI:
            NC_000021.9:32453345:C:T
            Gene:
            EVA1C (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000021.9:g.32453346C>T, NC_000021.8:g.33825654C>T, NM_058187.5:c.195C>T, NM_058187.4:c.195C>T, NM_058187.3:c.195C>T, XM_005261019.5:c.195C>T, XM_005261019.4:c.195C>T, XM_005261019.3:c.195C>T, XM_005261019.2:c.195C>T, XM_005261019.1:c.195C>T, XM_011529669.4:c.-91C>T, XM_011529669.3:c.-91C>T, XM_011529669.2:c.-91C>T, XM_011529669.1:c.-91C>T, XM_006724038.4:c.195C>T, XM_006724038.3:c.195C>T, XM_006724038.2:c.195C>T, XM_006724038.1:c.195C>T, XM_017028420.2:c.-91C>T, XM_017028420.1:c.-91C>T, NM_001320745.2:c.-91C>T, NM_001320745.1:c.-91C>T, NR_135467.2:n.343C>T, NR_135467.1:n.668C>T, XM_017028418.2:c.195C>T, XM_017028418.1:c.195C>T, NM_001286556.2:c.195C>T, NM_001286556.1:c.195C>T, XM_017028419.2:c.195C>T, XM_017028419.1:c.195C>T, XR_001754885.2:n.343C>T, XR_001754885.1:n.733C>T, XM_047440933.1:c.195C>T, XM_047440934.1:c.195C>T

            6.

            rs1478586968 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              21:32515006 (GRCh38)
              21:33887316 (GRCh37)
              Canonical SPDI:
              NC_000021.9:32515005:C:T
              Gene:
              EVA1C (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000021.9:g.32515006C>T, NC_000021.8:g.33887316C>T, NM_058187.5:c.1142C>T, NM_058187.4:c.1142C>T, NM_058187.3:c.1142C>T, XM_005261019.5:c.971C>T, XM_005261019.4:c.971C>T, XM_005261019.3:c.971C>T, XM_005261019.2:c.971C>T, XM_005261019.1:c.971C>T, XM_011529669.4:c.857C>T, XM_011529669.3:c.857C>T, XM_011529669.2:c.857C>T, XM_011529669.1:c.857C>T, XM_006724038.4:c.1139C>T, XM_006724038.3:c.1139C>T, XM_006724038.2:c.1139C>T, XM_006724038.1:c.1139C>T, XM_017028420.2:c.857C>T, XM_017028420.1:c.857C>T, NM_001320745.2:c.857C>T, NM_001320745.1:c.857C>T, NR_135467.2:n.1333C>T, NR_135467.1:n.1658C>T, XM_017028418.2:c.1139C>T, XM_017028418.1:c.1139C>T, NM_001286556.2:c.1133C>T, NM_001286556.1:c.1133C>T, XM_017028419.2:c.1061C>T, XM_017028419.1:c.1061C>T, NR_104472.2:n.1084C>T, NR_104472.1:n.1353C>T, NM_001320744.2:c.821C>T, NM_001320744.1:c.821C>T, XM_017028422.2:c.812C>T, XM_017028422.1:c.812C>T, XM_017028423.2:c.740C>T, XM_017028423.1:c.740C>T, XM_047440933.1:c.1130C>T, NP_478067.2:p.Pro381Leu, XP_005261076.1:p.Pro324Leu, XP_011527971.1:p.Pro286Leu, XP_006724101.1:p.Pro380Leu, XP_016883909.1:p.Pro286Leu, NP_001307674.1:p.Pro286Leu, XP_016883907.1:p.Pro380Leu, NP_001273485.1:p.Pro378Leu, XP_016883908.1:p.Pro354Leu, NP_001307673.1:p.Pro274Leu, XP_016883911.1:p.Pro271Leu, XP_016883912.1:p.Pro247Leu, XP_047296889.1:p.Pro377Leu

              7.

              rs1477197184 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                21:32457609 (GRCh38)
                21:33829917 (GRCh37)
                Canonical SPDI:
                NC_000021.9:32457608:G:A
                Gene:
                EVA1C (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.32457609G>A, NC_000021.8:g.33829917G>A, NM_058187.5:c.370G>A, NM_058187.4:c.370G>A, NM_058187.3:c.370G>A, XM_005261019.5:c.370G>A, XM_005261019.4:c.370G>A, XM_005261019.3:c.370G>A, XM_005261019.2:c.370G>A, XM_005261019.1:c.370G>A, XM_011529669.4:c.85G>A, XM_011529669.3:c.85G>A, XM_011529669.2:c.85G>A, XM_011529669.1:c.85G>A, XM_006724038.4:c.370G>A, XM_006724038.3:c.370G>A, XM_006724038.2:c.370G>A, XM_006724038.1:c.370G>A, XM_017028420.2:c.85G>A, XM_017028420.1:c.85G>A, NM_001320745.2:c.85G>A, NM_001320745.1:c.85G>A, NR_135467.2:n.518G>A, NR_135467.1:n.843G>A, XM_017028418.2:c.367G>A, XM_017028418.1:c.367G>A, NM_001286556.2:c.370G>A, NM_001286556.1:c.370G>A, XM_017028419.2:c.370G>A, XM_017028419.1:c.370G>A, NR_104472.2:n.321G>A, NR_104472.1:n.590G>A, XR_001754885.2:n.518G>A, XR_001754885.1:n.908G>A, XM_047440933.1:c.367G>A, XM_047440934.1:c.370G>A, NP_478067.2:p.Glu124Lys, XP_005261076.1:p.Glu124Lys, XP_011527971.1:p.Glu29Lys, XP_006724101.1:p.Glu124Lys, XP_016883909.1:p.Glu29Lys, NP_001307674.1:p.Glu29Lys, XP_016883907.1:p.Glu123Lys, NP_001273485.1:p.Glu124Lys, XP_016883908.1:p.Glu124Lys, XP_047296889.1:p.Glu123Lys, XP_047296890.1:p.Glu124Lys

                8.

                rs1476774917 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  21:32457674 (GRCh38)
                  21:33829982 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:32457673:T:C
                  Gene:
                  EVA1C (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000021.9:g.32457674T>C, NC_000021.8:g.33829982T>C, NM_058187.5:c.435T>C, NM_058187.4:c.435T>C, NM_058187.3:c.435T>C, XM_005261019.5:c.435T>C, XM_005261019.4:c.435T>C, XM_005261019.3:c.435T>C, XM_005261019.2:c.435T>C, XM_005261019.1:c.435T>C, XM_011529669.4:c.150T>C, XM_011529669.3:c.150T>C, XM_011529669.2:c.150T>C, XM_011529669.1:c.150T>C, XM_006724038.4:c.435T>C, XM_006724038.3:c.435T>C, XM_006724038.2:c.435T>C, XM_006724038.1:c.435T>C, XM_017028420.2:c.150T>C, XM_017028420.1:c.150T>C, NM_001320745.2:c.150T>C, NM_001320745.1:c.150T>C, NR_135467.2:n.583T>C, NR_135467.1:n.908T>C, XM_017028418.2:c.432T>C, XM_017028418.1:c.432T>C, NM_001286556.2:c.435T>C, NM_001286556.1:c.435T>C, XM_017028419.2:c.435T>C, XM_017028419.1:c.435T>C, NR_104472.2:n.386T>C, NR_104472.1:n.655T>C, XR_001754885.2:n.583T>C, XR_001754885.1:n.973T>C, XM_047440933.1:c.432T>C, XM_047440934.1:c.435T>C

                  9.

                  rs1476238612 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:32514816 (GRCh38)
                    21:33887126 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:32514815:C:T
                    Gene:
                    EVA1C (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000021/3 (GnomAD)
                    T=0.000026/7 (TOPMED)
                    HGVS:
                    NC_000021.9:g.32514816C>T, NC_000021.8:g.33887126C>T, NM_058187.5:c.952C>T, NM_058187.4:c.952C>T, NM_058187.3:c.952C>T, XM_005261019.5:c.781C>T, XM_005261019.4:c.781C>T, XM_005261019.3:c.781C>T, XM_005261019.2:c.781C>T, XM_005261019.1:c.781C>T, XM_011529669.4:c.667C>T, XM_011529669.3:c.667C>T, XM_011529669.2:c.667C>T, XM_011529669.1:c.667C>T, XM_006724038.4:c.949C>T, XM_006724038.3:c.949C>T, XM_006724038.2:c.949C>T, XM_006724038.1:c.949C>T, XM_017028420.2:c.667C>T, XM_017028420.1:c.667C>T, NM_001320745.2:c.667C>T, NM_001320745.1:c.667C>T, NR_135467.2:n.1143C>T, NR_135467.1:n.1468C>T, XM_017028418.2:c.949C>T, XM_017028418.1:c.949C>T, NM_001286556.2:c.943C>T, NM_001286556.1:c.943C>T, XM_017028419.2:c.871C>T, XM_017028419.1:c.871C>T, NR_104472.2:n.894C>T, NR_104472.1:n.1163C>T, NM_001320744.2:c.631C>T, NM_001320744.1:c.631C>T, XM_017028422.2:c.622C>T, XM_017028422.1:c.622C>T, XM_017028423.2:c.550C>T, XM_017028423.1:c.550C>T, XM_047440933.1:c.940C>T, NP_478067.2:p.His318Tyr, XP_005261076.1:p.His261Tyr, XP_011527971.1:p.His223Tyr, XP_006724101.1:p.His317Tyr, XP_016883909.1:p.His223Tyr, NP_001307674.1:p.His223Tyr, XP_016883907.1:p.His317Tyr, NP_001273485.1:p.His315Tyr, XP_016883908.1:p.His291Tyr, NP_001307673.1:p.His211Tyr, XP_016883911.1:p.His208Tyr, XP_016883912.1:p.His184Tyr, XP_047296889.1:p.His314Tyr

                    10.

                    rs1474174643 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AG>- [Show Flanks]
                      Chromosome:
                      21:32514898 (GRCh38)
                      21:33887208 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:32514893:AGAGAG:AGAG
                      Gene:
                      EVA1C (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AGAG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000021.9:g.32514894AG[2], NC_000021.8:g.33887204AG[2], NM_058187.5:c.1034_1035del, NM_058187.4:c.1034_1035del, NM_058187.3:c.1034_1035del, XM_005261019.5:c.863_864del, XM_005261019.4:c.863_864del, XM_005261019.3:c.863_864del, XM_005261019.2:c.863_864del, XM_005261019.1:c.863_864del, XM_011529669.4:c.749_750del, XM_011529669.3:c.749_750del, XM_011529669.2:c.749_750del, XM_011529669.1:c.749_750del, XM_006724038.4:c.1031_1032del, XM_006724038.3:c.1031_1032del, XM_006724038.2:c.1031_1032del, XM_006724038.1:c.1031_1032del, XM_017028420.2:c.749_750del, XM_017028420.1:c.749_750del, NM_001320745.2:c.749_750del, NM_001320745.1:c.749_750del, NR_135467.2:n.1221AG[2], NR_135467.1:n.1546AG[2], XM_017028418.2:c.1031_1032del, XM_017028418.1:c.1031_1032del, NM_001286556.2:c.1025_1026del, NM_001286556.1:c.1025_1026del, XM_017028419.2:c.953_954del, XM_017028419.1:c.953_954del, NR_104472.2:n.972AG[2], NR_104472.1:n.1241AG[2], NM_001320744.2:c.713_714del, NM_001320744.1:c.713_714del, XM_017028422.2:c.704_705del, XM_017028422.1:c.704_705del, XM_017028423.2:c.632_633del, XM_017028423.1:c.632_633del, XM_047440933.1:c.1022_1023del, NP_478067.2:p.Glu345fs, XP_005261076.1:p.Glu288fs, XP_011527971.1:p.Glu250fs, XP_006724101.1:p.Glu344fs, XP_016883909.1:p.Glu250fs, NP_001307674.1:p.Glu250fs, XP_016883907.1:p.Glu344fs, NP_001273485.1:p.Glu342fs, XP_016883908.1:p.Glu318fs, NP_001307673.1:p.Glu238fs, XP_016883911.1:p.Glu235fs, XP_016883912.1:p.Glu211fs, XP_047296889.1:p.Glu341fs

                      11.

                      rs1469425122 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        21:32467770 (GRCh38)
                        21:33840078 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:32467769:A:G
                        Gene:
                        EVA1C (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000021.9:g.32467770A>G, NC_000021.8:g.33840078A>G, NM_058187.5:c.556A>G, NM_058187.4:c.556A>G, NM_058187.3:c.556A>G, XM_005261019.5:c.556A>G, XM_005261019.4:c.556A>G, XM_005261019.3:c.556A>G, XM_005261019.2:c.556A>G, XM_005261019.1:c.556A>G, XM_011529669.4:c.271A>G, XM_011529669.3:c.271A>G, XM_011529669.2:c.271A>G, XM_011529669.1:c.271A>G, XM_006724038.4:c.553A>G, XM_006724038.3:c.553A>G, XM_006724038.2:c.553A>G, XM_006724038.1:c.553A>G, XM_017028420.2:c.271A>G, XM_017028420.1:c.271A>G, NM_001320745.2:c.271A>G, NM_001320745.1:c.271A>G, NR_135467.2:n.704A>G, NR_135467.1:n.1029A>G, XM_017028418.2:c.553A>G, XM_017028418.1:c.553A>G, NM_001286556.2:c.556A>G, NM_001286556.1:c.556A>G, XM_017028419.2:c.556A>G, XM_017028419.1:c.556A>G, NR_104472.2:n.507A>G, NR_104472.1:n.776A>G, NM_001320744.2:c.235A>G, NM_001320744.1:c.235A>G, XM_017028422.2:c.235A>G, XM_017028422.1:c.235A>G, XM_017028423.2:c.235A>G, XM_017028423.1:c.235A>G, XR_001754885.2:n.704A>G, XR_001754885.1:n.1094A>G, XM_047440933.1:c.553A>G, XM_047440934.1:c.556A>G, NP_478067.2:p.Ile186Val, XP_005261076.1:p.Ile186Val, XP_011527971.1:p.Ile91Val, XP_006724101.1:p.Ile185Val, XP_016883909.1:p.Ile91Val, NP_001307674.1:p.Ile91Val, XP_016883907.1:p.Ile185Val, NP_001273485.1:p.Ile186Val, XP_016883908.1:p.Ile186Val, NP_001307673.1:p.Ile79Val, XP_016883911.1:p.Ile79Val, XP_016883912.1:p.Ile79Val, XP_047296889.1:p.Ile185Val, XP_047296890.1:p.Ile186Val

                        12.

                        rs1465912620 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          21:32514969 (GRCh38)
                          21:33887279 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:32514968:G:A
                          Gene:
                          EVA1C (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000021.9:g.32514969G>A, NC_000021.8:g.33887279G>A, NM_058187.5:c.1105G>A, NM_058187.4:c.1105G>A, NM_058187.3:c.1105G>A, XM_005261019.5:c.934G>A, XM_005261019.4:c.934G>A, XM_005261019.3:c.934G>A, XM_005261019.2:c.934G>A, XM_005261019.1:c.934G>A, XM_011529669.4:c.820G>A, XM_011529669.3:c.820G>A, XM_011529669.2:c.820G>A, XM_011529669.1:c.820G>A, XM_006724038.4:c.1102G>A, XM_006724038.3:c.1102G>A, XM_006724038.2:c.1102G>A, XM_006724038.1:c.1102G>A, XM_017028420.2:c.820G>A, XM_017028420.1:c.820G>A, NM_001320745.2:c.820G>A, NM_001320745.1:c.820G>A, NR_135467.2:n.1296G>A, NR_135467.1:n.1621G>A, XM_017028418.2:c.1102G>A, XM_017028418.1:c.1102G>A, NM_001286556.2:c.1096G>A, NM_001286556.1:c.1096G>A, XM_017028419.2:c.1024G>A, XM_017028419.1:c.1024G>A, NR_104472.2:n.1047G>A, NR_104472.1:n.1316G>A, NM_001320744.2:c.784G>A, NM_001320744.1:c.784G>A, XM_017028422.2:c.775G>A, XM_017028422.1:c.775G>A, XM_017028423.2:c.703G>A, XM_017028423.1:c.703G>A, XM_047440933.1:c.1093G>A, NP_478067.2:p.Glu369Lys, XP_005261076.1:p.Glu312Lys, XP_011527971.1:p.Glu274Lys, XP_006724101.1:p.Glu368Lys, XP_016883909.1:p.Glu274Lys, NP_001307674.1:p.Glu274Lys, XP_016883907.1:p.Glu368Lys, NP_001273485.1:p.Glu366Lys, XP_016883908.1:p.Glu342Lys, NP_001307673.1:p.Glu262Lys, XP_016883911.1:p.Glu259Lys, XP_016883912.1:p.Glu235Lys, XP_047296889.1:p.Glu365Lys

                          13.

                          rs1463098637 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            21:32467801 (GRCh38)
                            21:33840109 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:32467800:A:G
                            Gene:
                            EVA1C (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.32467801A>G, NC_000021.8:g.33840109A>G, NM_058187.5:c.587A>G, NM_058187.4:c.587A>G, NM_058187.3:c.587A>G, XM_005261019.5:c.587A>G, XM_005261019.4:c.587A>G, XM_005261019.3:c.587A>G, XM_005261019.2:c.587A>G, XM_005261019.1:c.587A>G, XM_011529669.4:c.302A>G, XM_011529669.3:c.302A>G, XM_011529669.2:c.302A>G, XM_011529669.1:c.302A>G, XM_006724038.4:c.584A>G, XM_006724038.3:c.584A>G, XM_006724038.2:c.584A>G, XM_006724038.1:c.584A>G, XM_017028420.2:c.302A>G, XM_017028420.1:c.302A>G, NM_001320745.2:c.302A>G, NM_001320745.1:c.302A>G, NR_135467.2:n.735A>G, NR_135467.1:n.1060A>G, XM_017028418.2:c.584A>G, XM_017028418.1:c.584A>G, NM_001286556.2:c.587A>G, NM_001286556.1:c.587A>G, XM_017028419.2:c.587A>G, XM_017028419.1:c.587A>G, NR_104472.2:n.538A>G, NR_104472.1:n.807A>G, NM_001320744.2:c.266A>G, NM_001320744.1:c.266A>G, XM_017028422.2:c.266A>G, XM_017028422.1:c.266A>G, XM_017028423.2:c.266A>G, XM_017028423.1:c.266A>G, XR_001754885.2:n.735A>G, XR_001754885.1:n.1125A>G, XM_047440933.1:c.584A>G, XM_047440934.1:c.587A>G, NP_478067.2:p.Gln196Arg, XP_005261076.1:p.Gln196Arg, XP_011527971.1:p.Gln101Arg, XP_006724101.1:p.Gln195Arg, XP_016883909.1:p.Gln101Arg, NP_001307674.1:p.Gln101Arg, XP_016883907.1:p.Gln195Arg, NP_001273485.1:p.Gln196Arg, XP_016883908.1:p.Gln196Arg, NP_001307673.1:p.Gln89Arg, XP_016883911.1:p.Gln89Arg, XP_016883912.1:p.Gln89Arg, XP_047296889.1:p.Gln195Arg, XP_047296890.1:p.Gln196Arg

                            14.

                            rs1461820500 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              21:32412871 (GRCh38)
                              21:33785179 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:32412870:C:
                              Gene:
                              EVA1C (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000021.9:g.32412871del, NC_000021.8:g.33785179del, NM_058187.5:c.18del, NM_058187.4:c.18del, NM_058187.3:c.18del, XM_005261019.5:c.18del, XM_005261019.4:c.18del, XM_005261019.3:c.18del, XM_005261019.2:c.18del, XM_005261019.1:c.18del, XM_006724038.4:c.18del, XM_006724038.3:c.18del, XM_006724038.2:c.18del, XM_006724038.1:c.18del, NR_135467.2:n.166del, NR_135467.1:n.491del, XM_017028418.2:c.18del, XM_017028418.1:c.18del, NM_001286556.2:c.18del, NM_001286556.1:c.18del, XM_017028419.2:c.18del, XM_017028419.1:c.18del, NR_104472.2:n.166del, NR_104472.1:n.435del, NM_001320744.2:c.18del, NM_001320744.1:c.18del, XM_017028422.2:c.18del, XM_017028422.1:c.18del, XM_017028423.2:c.18del, XM_017028423.1:c.18del, XR_001754885.2:n.166del, XR_001754885.1:n.556del, XM_047440933.1:c.18del, XM_047440934.1:c.18del, NP_478067.2:p.Ala7fs, XP_005261076.1:p.Ala7fs, XP_006724101.1:p.Ala7fs, XP_016883907.1:p.Ala7fs, NP_001273485.1:p.Ala7fs, XP_016883908.1:p.Ala7fs, NP_001307673.1:p.Ala7fs, XP_016883911.1:p.Ala7fs, XP_016883912.1:p.Ala7fs, XP_047296889.1:p.Ala7fs, XP_047296890.1:p.Ala7fs

                              15.

                              rs1457832502 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->CTG [Show Flanks]
                                Chromosome:
                                21:32412976 (GRCh38)
                                21:33785285 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:32412976::CTG
                                Gene:
                                EVA1C (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,inframe_insertion,coding_sequence_variant,non_coding_transcript_variant
                                HGVS:
                                NC_000021.9:g.32412976_32412977insCTG, NC_000021.8:g.33785284_33785285insCTG, NM_058187.5:c.123_124insCTG, NM_058187.4:c.123_124insCTG, NM_058187.3:c.123_124insCTG, XM_005261019.5:c.123_124insCTG, XM_005261019.4:c.123_124insCTG, XM_005261019.3:c.123_124insCTG, XM_005261019.2:c.123_124insCTG, XM_005261019.1:c.123_124insCTG, XM_006724038.4:c.123_124insCTG, XM_006724038.3:c.123_124insCTG, XM_006724038.2:c.123_124insCTG, XM_006724038.1:c.123_124insCTG, NR_135467.2:n.271_272insCTG, NR_135467.1:n.596_597insCTG, XM_017028418.2:c.123_124insCTG, XM_017028418.1:c.123_124insCTG, NM_001286556.2:c.123_124insCTG, NM_001286556.1:c.123_124insCTG, XM_017028419.2:c.123_124insCTG, XM_017028419.1:c.123_124insCTG, NR_104472.2:n.271_272insCTG, NR_104472.1:n.540_541insCTG, NM_001320744.2:c.123_124insCTG, NM_001320744.1:c.123_124insCTG, XM_017028422.2:c.123_124insCTG, XM_017028422.1:c.123_124insCTG, XM_017028423.2:c.123_124insCTG, XM_017028423.1:c.123_124insCTG, XR_001754885.2:n.271_272insCTG, XR_001754885.1:n.661_662insCTG, XM_047440933.1:c.123_124insCTG, XM_047440934.1:c.123_124insCTG, NP_478067.2:p.Cys42_Ser43insLeu, XP_005261076.1:p.Cys42_Ser43insLeu, XP_006724101.1:p.Cys42_Ser43insLeu, XP_016883907.1:p.Cys42_Ser43insLeu, NP_001273485.1:p.Cys42_Ser43insLeu, XP_016883908.1:p.Cys42_Ser43insLeu, NP_001307673.1:p.Cys42_Ser43insLeu, XP_016883911.1:p.Cys42_Ser43insLeu, XP_016883912.1:p.Cys42_Ser43insLeu, XP_047296889.1:p.Cys42_Ser43insLeu, XP_047296890.1:p.Cys42_Ser43insLeu

                                16.

                                rs1457054668 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  21:32453352 (GRCh38)
                                  21:33825660 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:32453351:C:T
                                  Gene:
                                  EVA1C (Varview)
                                  Functional Consequence:
                                  intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000021.9:g.32453352C>T, NC_000021.8:g.33825660C>T, NM_058187.5:c.201C>T, NM_058187.4:c.201C>T, NM_058187.3:c.201C>T, XM_005261019.5:c.201C>T, XM_005261019.4:c.201C>T, XM_005261019.3:c.201C>T, XM_005261019.2:c.201C>T, XM_005261019.1:c.201C>T, XM_011529669.4:c.-85C>T, XM_011529669.3:c.-85C>T, XM_011529669.2:c.-85C>T, XM_011529669.1:c.-85C>T, XM_006724038.4:c.201C>T, XM_006724038.3:c.201C>T, XM_006724038.2:c.201C>T, XM_006724038.1:c.201C>T, XM_017028420.2:c.-85C>T, XM_017028420.1:c.-85C>T, NM_001320745.2:c.-85C>T, NM_001320745.1:c.-85C>T, NR_135467.2:n.349C>T, NR_135467.1:n.674C>T, XM_017028418.2:c.201C>T, XM_017028418.1:c.201C>T, NM_001286556.2:c.201C>T, NM_001286556.1:c.201C>T, XM_017028419.2:c.201C>T, XM_017028419.1:c.201C>T, XR_001754885.2:n.349C>T, XR_001754885.1:n.739C>T, XM_047440933.1:c.201C>T, XM_047440934.1:c.201C>T

                                  17.

                                  rs1454935730 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    21:32515009 (GRCh38)
                                    21:33887319 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:32515008:C:A
                                    Gene:
                                    EVA1C (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000021.9:g.32515009C>A, NC_000021.8:g.33887319C>A, NM_058187.5:c.1145C>A, NM_058187.4:c.1145C>A, NM_058187.3:c.1145C>A, XM_005261019.5:c.974C>A, XM_005261019.4:c.974C>A, XM_005261019.3:c.974C>A, XM_005261019.2:c.974C>A, XM_005261019.1:c.974C>A, XM_011529669.4:c.860C>A, XM_011529669.3:c.860C>A, XM_011529669.2:c.860C>A, XM_011529669.1:c.860C>A, XM_006724038.4:c.1142C>A, XM_006724038.3:c.1142C>A, XM_006724038.2:c.1142C>A, XM_006724038.1:c.1142C>A, XM_017028420.2:c.860C>A, XM_017028420.1:c.860C>A, NM_001320745.2:c.860C>A, NM_001320745.1:c.860C>A, NR_135467.2:n.1336C>A, NR_135467.1:n.1661C>A, XM_017028418.2:c.1142C>A, XM_017028418.1:c.1142C>A, NM_001286556.2:c.1136C>A, NM_001286556.1:c.1136C>A, XM_017028419.2:c.1064C>A, XM_017028419.1:c.1064C>A, NR_104472.2:n.1087C>A, NR_104472.1:n.1356C>A, NM_001320744.2:c.824C>A, NM_001320744.1:c.824C>A, XM_017028422.2:c.815C>A, XM_017028422.1:c.815C>A, XM_017028423.2:c.743C>A, XM_017028423.1:c.743C>A, XM_047440933.1:c.1133C>A, NP_478067.2:p.Ser382Tyr, XP_005261076.1:p.Ser325Tyr, XP_011527971.1:p.Ser287Tyr, XP_006724101.1:p.Ser381Tyr, XP_016883909.1:p.Ser287Tyr, NP_001307674.1:p.Ser287Tyr, XP_016883907.1:p.Ser381Tyr, NP_001273485.1:p.Ser379Tyr, XP_016883908.1:p.Ser355Tyr, NP_001307673.1:p.Ser275Tyr, XP_016883911.1:p.Ser272Tyr, XP_016883912.1:p.Ser248Tyr, XP_047296889.1:p.Ser378Tyr

                                    18.

                                    rs1452783948 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      21:32412919 (GRCh38)
                                      21:33785227 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:32412918:C:T
                                      Gene:
                                      EVA1C (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000021.9:g.32412919C>T, NC_000021.8:g.33785227C>T, NM_058187.5:c.66C>T, NM_058187.4:c.66C>T, NM_058187.3:c.66C>T, XM_005261019.5:c.66C>T, XM_005261019.4:c.66C>T, XM_005261019.3:c.66C>T, XM_005261019.2:c.66C>T, XM_005261019.1:c.66C>T, XM_006724038.4:c.66C>T, XM_006724038.3:c.66C>T, XM_006724038.2:c.66C>T, XM_006724038.1:c.66C>T, NR_135467.2:n.214C>T, NR_135467.1:n.539C>T, XM_017028418.2:c.66C>T, XM_017028418.1:c.66C>T, NM_001286556.2:c.66C>T, NM_001286556.1:c.66C>T, XM_017028419.2:c.66C>T, XM_017028419.1:c.66C>T, NR_104472.2:n.214C>T, NR_104472.1:n.483C>T, NM_001320744.2:c.66C>T, NM_001320744.1:c.66C>T, XM_017028422.2:c.66C>T, XM_017028422.1:c.66C>T, XM_017028423.2:c.66C>T, XM_017028423.1:c.66C>T, XR_001754885.2:n.214C>T, XR_001754885.1:n.604C>T, XM_047440933.1:c.66C>T, XM_047440934.1:c.66C>T

                                      19.

                                      rs1452753152 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        21:32412962 (GRCh38)
                                        21:33785270 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:32412961:T:C
                                        Gene:
                                        EVA1C (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_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_000021.9:g.32412962T>C, NC_000021.8:g.33785270T>C, NM_058187.5:c.109T>C, NM_058187.4:c.109T>C, NM_058187.3:c.109T>C, XM_005261019.5:c.109T>C, XM_005261019.4:c.109T>C, XM_005261019.3:c.109T>C, XM_005261019.2:c.109T>C, XM_005261019.1:c.109T>C, XM_006724038.4:c.109T>C, XM_006724038.3:c.109T>C, XM_006724038.2:c.109T>C, XM_006724038.1:c.109T>C, NR_135467.2:n.257T>C, NR_135467.1:n.582T>C, XM_017028418.2:c.109T>C, XM_017028418.1:c.109T>C, NM_001286556.2:c.109T>C, NM_001286556.1:c.109T>C, XM_017028419.2:c.109T>C, XM_017028419.1:c.109T>C, NR_104472.2:n.257T>C, NR_104472.1:n.526T>C, NM_001320744.2:c.109T>C, NM_001320744.1:c.109T>C, XM_017028422.2:c.109T>C, XM_017028422.1:c.109T>C, XM_017028423.2:c.109T>C, XM_017028423.1:c.109T>C, XR_001754885.2:n.257T>C, XR_001754885.1:n.647T>C, XM_047440933.1:c.109T>C, XM_047440934.1:c.109T>C, NP_478067.2:p.Cys37Arg, XP_005261076.1:p.Cys37Arg, XP_006724101.1:p.Cys37Arg, XP_016883907.1:p.Cys37Arg, NP_001273485.1:p.Cys37Arg, XP_016883908.1:p.Cys37Arg, NP_001307673.1:p.Cys37Arg, XP_016883911.1:p.Cys37Arg, XP_016883912.1:p.Cys37Arg, XP_047296889.1:p.Cys37Arg, XP_047296890.1:p.Cys37Arg

                                        20.

                                        rs1452089593 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          21:32412968 (GRCh38)
                                          21:33785276 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:32412967:G:T
                                          Gene:
                                          EVA1C (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000021.9:g.32412968G>T, NC_000021.8:g.33785276G>T, NM_058187.5:c.115G>T, NM_058187.4:c.115G>T, NM_058187.3:c.115G>T, XM_005261019.5:c.115G>T, XM_005261019.4:c.115G>T, XM_005261019.3:c.115G>T, XM_005261019.2:c.115G>T, XM_005261019.1:c.115G>T, XM_006724038.4:c.115G>T, XM_006724038.3:c.115G>T, XM_006724038.2:c.115G>T, XM_006724038.1:c.115G>T, NR_135467.2:n.263G>T, NR_135467.1:n.588G>T, XM_017028418.2:c.115G>T, XM_017028418.1:c.115G>T, NM_001286556.2:c.115G>T, NM_001286556.1:c.115G>T, XM_017028419.2:c.115G>T, XM_017028419.1:c.115G>T, NR_104472.2:n.263G>T, NR_104472.1:n.532G>T, NM_001320744.2:c.115G>T, NM_001320744.1:c.115G>T, XM_017028422.2:c.115G>T, XM_017028422.1:c.115G>T, XM_017028423.2:c.115G>T, XM_017028423.1:c.115G>T, XR_001754885.2:n.263G>T, XR_001754885.1:n.653G>T, XM_047440933.1:c.115G>T, XM_047440934.1:c.115G>T, NP_478067.2:p.Val39Phe, XP_005261076.1:p.Val39Phe, XP_006724101.1:p.Val39Phe, XP_016883907.1:p.Val39Phe, NP_001273485.1:p.Val39Phe, XP_016883908.1:p.Val39Phe, NP_001307673.1:p.Val39Phe, XP_016883911.1:p.Val39Phe, XP_016883912.1:p.Val39Phe, XP_047296889.1:p.Val39Phe, XP_047296890.1:p.Val39Phe

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