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Items: 1 to 20 of 1185

1.

rs1490484948 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    22:50145793 (GRCh38)
    22:50584222 (GRCh37)
    Canonical SPDI:
    NC_000022.11:50145792:T:G
    Gene:
    MOV10L1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.50145793T>G, NC_000022.10:g.50584222T>G, XM_005261923.5:c.2550T>G, XM_005261923.4:c.2550T>G, XM_005261923.3:c.2550T>G, XM_005261923.2:c.2550T>G, XM_005261923.1:c.2550T>G, XM_011530700.3:c.2454T>G, XM_011530700.2:c.2454T>G, XM_011530700.1:c.2454T>G, NM_018995.3:c.2610T>G, NM_018995.2:c.2610T>G, XM_011530697.2:c.2550T>G, XM_011530697.1:c.2550T>G, NM_001164105.2:c.2550T>G, NM_001164105.1:c.2550T>G, XM_011530696.2:c.2610T>G, XM_011530696.1:c.2610T>G, XM_011530699.2:c.2454T>G, XM_011530699.1:c.2454T>G, XM_017028833.2:c.2610T>G, XM_017028833.1:c.2610T>G, XM_011530698.2:c.2469T>G, XM_011530698.1:c.2469T>G, NM_001164104.2:c.2610T>G, NM_001164104.1:c.2610T>G, XM_017028835.2:c.1032T>G, XM_017028835.1:c.1032T>G, XM_017028836.2:c.1032T>G, XM_017028836.1:c.1032T>G, XM_011530701.1:c.2610T>G, XM_047441413.1:c.1887T>G, XM_047441414.1:c.2610T>G, XM_047441415.1:c.1032T>G, XP_005261980.1:p.Phe850Leu, XP_011529002.1:p.Phe818Leu, NP_061868.1:p.Phe870Leu, XP_011528999.1:p.Phe850Leu, NP_001157577.1:p.Phe850Leu, XP_011528998.1:p.Phe870Leu, XP_011529001.1:p.Phe818Leu, XP_016884322.1:p.Phe870Leu, XP_011529000.1:p.Phe823Leu, NP_001157576.1:p.Phe870Leu, XP_016884324.1:p.Phe344Leu, XP_016884325.1:p.Phe344Leu, XP_011529003.1:p.Phe870Leu, XP_047297369.1:p.Phe629Leu, XP_047297370.1:p.Phe870Leu, XP_047297371.1:p.Phe344Leu

    2.

    rs1486898771 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      22:50145807 (GRCh38)
      22:50584236 (GRCh37)
      Canonical SPDI:
      NC_000022.11:50145806:T:G
      Gene:
      MOV10L1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.50145807T>G, NC_000022.10:g.50584236T>G, XM_005261923.5:c.2564T>G, XM_005261923.4:c.2564T>G, XM_005261923.3:c.2564T>G, XM_005261923.2:c.2564T>G, XM_005261923.1:c.2564T>G, XM_011530700.3:c.2468T>G, XM_011530700.2:c.2468T>G, XM_011530700.1:c.2468T>G, NM_018995.3:c.2624T>G, NM_018995.2:c.2624T>G, XM_011530697.2:c.2564T>G, XM_011530697.1:c.2564T>G, NM_001164105.2:c.2564T>G, NM_001164105.1:c.2564T>G, XM_011530696.2:c.2624T>G, XM_011530696.1:c.2624T>G, XM_011530699.2:c.2468T>G, XM_011530699.1:c.2468T>G, XM_017028833.2:c.2624T>G, XM_017028833.1:c.2624T>G, XM_011530698.2:c.2483T>G, XM_011530698.1:c.2483T>G, NM_001164104.2:c.2624T>G, NM_001164104.1:c.2624T>G, XM_017028835.2:c.1046T>G, XM_017028835.1:c.1046T>G, XM_017028836.2:c.1046T>G, XM_017028836.1:c.1046T>G, XM_011530701.1:c.2624T>G, XM_047441413.1:c.1901T>G, XM_047441414.1:c.2624T>G, XM_047441415.1:c.1046T>G, XP_005261980.1:p.Val855Gly, XP_011529002.1:p.Val823Gly, NP_061868.1:p.Val875Gly, XP_011528999.1:p.Val855Gly, NP_001157577.1:p.Val855Gly, XP_011528998.1:p.Val875Gly, XP_011529001.1:p.Val823Gly, XP_016884322.1:p.Val875Gly, XP_011529000.1:p.Val828Gly, NP_001157576.1:p.Val875Gly, XP_016884324.1:p.Val349Gly, XP_016884325.1:p.Val349Gly, XP_011529003.1:p.Val875Gly, XP_047297369.1:p.Val634Gly, XP_047297370.1:p.Val875Gly, XP_047297371.1:p.Val349Gly

      3.

      rs1486618584 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        22:50143044 (GRCh38)
        22:50581473 (GRCh37)
        Canonical SPDI:
        NC_000022.11:50143043:A:G
        Gene:
        MOV10L1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,terminator_codon_variant,stop_lost
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000022.11:g.50143044A>G, NC_000022.10:g.50581473A>G, XM_005261923.5:c.2121A>G, XM_005261923.4:c.2121A>G, XM_005261923.3:c.2121A>G, XM_005261923.2:c.2121A>G, XM_005261923.1:c.2121A>G, XM_011530700.3:c.2025A>G, XM_011530700.2:c.2025A>G, XM_011530700.1:c.2025A>G, NM_018995.3:c.2181A>G, NM_018995.2:c.2181A>G, XM_011530697.2:c.2121A>G, XM_011530697.1:c.2121A>G, NM_001164105.2:c.2121A>G, NM_001164105.1:c.2121A>G, XM_011530696.2:c.2181A>G, XM_011530696.1:c.2181A>G, XM_011530699.2:c.2025A>G, XM_011530699.1:c.2025A>G, XM_017028833.2:c.2181A>G, XM_017028833.1:c.2181A>G, XM_011530698.2:c.2040A>G, XM_011530698.1:c.2040A>G, NM_001164104.2:c.2181A>G, NM_001164104.1:c.2181A>G, XM_017028835.2:c.603A>G, XM_017028835.1:c.603A>G, XM_017028836.2:c.603A>G, XM_017028836.1:c.603A>G, XM_011530701.1:c.2181A>G, XM_047441413.1:c.1458A>G, XM_047441414.1:c.2181A>G, XM_047441415.1:c.603A>G, XM_011530704.1:c.2072A>G, XP_011529006.1:p.Ter691Trp

        4.

        rs1485516213 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          22:50117247 (GRCh38)
          22:50555676 (GRCh37)
          Canonical SPDI:
          NC_000022.11:50117246:GG:G
          Gene:
          MOV10L1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.50117248del, NC_000022.10:g.50555677del, XM_005261923.5:c.1291del, XM_005261923.4:c.1291del, XM_005261923.3:c.1291del, XM_005261923.2:c.1291del, XM_005261923.1:c.1291del, XM_011530700.3:c.1195del, XM_011530700.2:c.1195del, XM_011530700.1:c.1195del, NM_018995.3:c.1351del, NM_018995.2:c.1351del, XM_011530697.2:c.1291del, XM_011530697.1:c.1291del, NM_001164105.2:c.1291del, NM_001164105.1:c.1291del, XM_011530696.2:c.1351del, XM_011530696.1:c.1351del, XM_011530699.2:c.1195del, XM_011530699.1:c.1195del, XM_017028833.2:c.1351del, XM_017028833.1:c.1351del, XM_011530698.2:c.1210del, XM_011530698.1:c.1210del, NM_001164104.2:c.1351del, NM_001164104.1:c.1351del, XM_017028834.2:c.1351del, XM_017028834.1:c.1351del, XM_011530701.1:c.1351del, XM_047441413.1:c.628del, XM_017028837.1:c.1351del, XM_047441414.1:c.1351del, XM_011530704.1:c.1351del, XP_005261980.1:p.Glu431fs, XP_011529002.1:p.Glu399fs, NP_061868.1:p.Glu451fs, XP_011528999.1:p.Glu431fs, NP_001157577.1:p.Glu431fs, XP_011528998.1:p.Glu451fs, XP_011529001.1:p.Glu399fs, XP_016884322.1:p.Glu451fs, XP_011529000.1:p.Glu404fs, NP_001157576.1:p.Glu451fs, XP_016884323.1:p.Glu451fs, XP_011529003.1:p.Glu451fs, XP_047297369.1:p.Glu210fs, XP_016884326.1:p.Glu451fs, XP_047297370.1:p.Glu451fs, XP_011529006.1:p.Glu451fs

          5.

          rs1485274015 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            22:50108669 (GRCh38)
            22:50547098 (GRCh37)
            Canonical SPDI:
            NC_000022.11:50108668:A:G
            Gene:
            MOV10L1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000022.11:g.50108669A>G, NC_000022.10:g.50547098A>G, XM_005261923.5:c.508A>G, XM_005261923.4:c.508A>G, XM_005261923.3:c.508A>G, XM_005261923.2:c.508A>G, XM_005261923.1:c.508A>G, XM_011530700.3:c.412A>G, XM_011530700.2:c.412A>G, XM_011530700.1:c.412A>G, NM_018995.3:c.568A>G, NM_018995.2:c.568A>G, XM_011530697.2:c.508A>G, XM_011530697.1:c.508A>G, NM_001164105.2:c.508A>G, NM_001164105.1:c.508A>G, XM_011530696.2:c.568A>G, XM_011530696.1:c.568A>G, XM_011530699.2:c.412A>G, XM_011530699.1:c.412A>G, XM_017028833.2:c.568A>G, XM_017028833.1:c.568A>G, XM_011530698.2:c.568A>G, XM_011530698.1:c.568A>G, NM_001164104.2:c.568A>G, NM_001164104.1:c.568A>G, XM_017028834.2:c.568A>G, XM_017028834.1:c.568A>G, XM_011530701.1:c.568A>G, XM_047441413.1:c.-156A>G, XM_017028837.1:c.568A>G, XM_047441414.1:c.568A>G, XM_011530704.1:c.568A>G, XP_005261980.1:p.Ser170Gly, XP_011529002.1:p.Ser138Gly, NP_061868.1:p.Ser190Gly, XP_011528999.1:p.Ser170Gly, NP_001157577.1:p.Ser170Gly, XP_011528998.1:p.Ser190Gly, XP_011529001.1:p.Ser138Gly, XP_016884322.1:p.Ser190Gly, XP_011529000.1:p.Ser190Gly, NP_001157576.1:p.Ser190Gly, XP_016884323.1:p.Ser190Gly, XP_011529003.1:p.Ser190Gly, XP_016884326.1:p.Ser190Gly, XP_047297370.1:p.Ser190Gly, XP_011529006.1:p.Ser190Gly

            6.

            rs1484906236 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:50113748 (GRCh38)
              22:50552177 (GRCh37)
              Canonical SPDI:
              NC_000022.11:50113747:C:T
              Gene:
              MOV10L1 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_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)
              HGVS:

              7.

              rs1484571924 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                22:50108717 (GRCh38)
                22:50547146 (GRCh37)
                Canonical SPDI:
                NC_000022.11:50108716:T:G
                Gene:
                MOV10L1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000014/2 (GnomAD)
                HGVS:
                NC_000022.11:g.50108717T>G, NC_000022.10:g.50547146T>G, XM_005261923.5:c.556T>G, XM_005261923.4:c.556T>G, XM_005261923.3:c.556T>G, XM_005261923.2:c.556T>G, XM_005261923.1:c.556T>G, XM_011530700.3:c.460T>G, XM_011530700.2:c.460T>G, XM_011530700.1:c.460T>G, NM_018995.3:c.616T>G, NM_018995.2:c.616T>G, XM_011530697.2:c.556T>G, XM_011530697.1:c.556T>G, NM_001164105.2:c.556T>G, NM_001164105.1:c.556T>G, XM_011530696.2:c.616T>G, XM_011530696.1:c.616T>G, XM_011530699.2:c.460T>G, XM_011530699.1:c.460T>G, XM_017028833.2:c.616T>G, XM_017028833.1:c.616T>G, XM_011530698.2:c.616T>G, XM_011530698.1:c.616T>G, NM_001164104.2:c.616T>G, NM_001164104.1:c.616T>G, XM_017028834.2:c.616T>G, XM_017028834.1:c.616T>G, XM_011530701.1:c.616T>G, XM_047441413.1:c.-108T>G, XM_017028837.1:c.616T>G, XM_047441414.1:c.616T>G, XM_011530704.1:c.616T>G, XP_005261980.1:p.Leu186Val, XP_011529002.1:p.Leu154Val, NP_061868.1:p.Leu206Val, XP_011528999.1:p.Leu186Val, NP_001157577.1:p.Leu186Val, XP_011528998.1:p.Leu206Val, XP_011529001.1:p.Leu154Val, XP_016884322.1:p.Leu206Val, XP_011529000.1:p.Leu206Val, NP_001157576.1:p.Leu206Val, XP_016884323.1:p.Leu206Val, XP_011529003.1:p.Leu206Val, XP_016884326.1:p.Leu206Val, XP_047297370.1:p.Leu206Val, XP_011529006.1:p.Leu206Val

                8.

                rs1484535481 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  22:50115118 (GRCh38)
                  22:50553547 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:50115117:T:C
                  Gene:
                  MOV10L1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
                  HGVS:
                  NC_000022.11:g.50115118T>C, NC_000022.10:g.50553547T>C, XM_005261923.5:c.1071T>C, XM_005261923.4:c.1071T>C, XM_005261923.3:c.1071T>C, XM_005261923.2:c.1071T>C, XM_005261923.1:c.1071T>C, XM_011530700.3:c.975T>C, XM_011530700.2:c.975T>C, XM_011530700.1:c.975T>C, NM_018995.3:c.1131T>C, NM_018995.2:c.1131T>C, XM_011530697.2:c.1071T>C, XM_011530697.1:c.1071T>C, NM_001164105.2:c.1071T>C, NM_001164105.1:c.1071T>C, XM_011530696.2:c.1131T>C, XM_011530696.1:c.1131T>C, XM_011530699.2:c.975T>C, XM_011530699.1:c.975T>C, XM_017028833.2:c.1131T>C, XM_017028833.1:c.1131T>C, XM_011530698.2:c.990T>C, XM_011530698.1:c.990T>C, NM_001164104.2:c.1131T>C, NM_001164104.1:c.1131T>C, XM_017028834.2:c.1131T>C, XM_017028834.1:c.1131T>C, XM_011530701.1:c.1131T>C, XM_047441413.1:c.408T>C, XM_017028837.1:c.1131T>C, XM_047441414.1:c.1131T>C, XM_011530704.1:c.1131T>C

                  9.

                  rs1483805389 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:50117305 (GRCh38)
                    22:50555734 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:50117304:G:A
                    Gene:
                    MOV10L1 (Varview)
                    Functional Consequence:
                    intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000022.11:g.50117305G>A, NC_000022.10:g.50555734G>A, XM_005261923.5:c.1348G>A, XM_005261923.4:c.1348G>A, XM_005261923.3:c.1348G>A, XM_005261923.2:c.1348G>A, XM_005261923.1:c.1348G>A, XM_011530700.3:c.1252G>A, XM_011530700.2:c.1252G>A, XM_011530700.1:c.1252G>A, NM_018995.3:c.1408G>A, NM_018995.2:c.1408G>A, XM_011530697.2:c.1348G>A, XM_011530697.1:c.1348G>A, NM_001164105.2:c.1348G>A, NM_001164105.1:c.1348G>A, XM_011530696.2:c.1408G>A, XM_011530696.1:c.1408G>A, XM_011530699.2:c.1252G>A, XM_011530699.1:c.1252G>A, XM_017028833.2:c.1408G>A, XM_017028833.1:c.1408G>A, XM_011530698.2:c.1267G>A, XM_011530698.1:c.1267G>A, NM_001164104.2:c.1408G>A, NM_001164104.1:c.1408G>A, XM_017028834.2:c.1408G>A, XM_017028834.1:c.1408G>A, XM_011530701.1:c.1408G>A, XM_047441413.1:c.685G>A, XM_017028837.1:c.1408G>A, XM_047441414.1:c.1408G>A, XM_047441415.1:c.-56G>A, XM_011530704.1:c.1408G>A, XP_005261980.1:p.Ala450Thr, XP_011529002.1:p.Ala418Thr, NP_061868.1:p.Ala470Thr, XP_011528999.1:p.Ala450Thr, NP_001157577.1:p.Ala450Thr, XP_011528998.1:p.Ala470Thr, XP_011529001.1:p.Ala418Thr, XP_016884322.1:p.Ala470Thr, XP_011529000.1:p.Ala423Thr, NP_001157576.1:p.Ala470Thr, XP_016884323.1:p.Ala470Thr, XP_011529003.1:p.Ala470Thr, XP_047297369.1:p.Ala229Thr, XP_016884326.1:p.Ala470Thr, XP_047297370.1:p.Ala470Thr, XP_011529006.1:p.Ala470Thr

                    10.

                    rs1482907604 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:50099477 (GRCh38)
                      22:50537906 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:50099476:G:A
                      Gene:
                      MOV10L1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000022.11:g.50099477G>A, NC_000022.10:g.50537906G>A, XM_005261923.5:c.257G>A, XM_005261923.4:c.257G>A, XM_005261923.3:c.257G>A, XM_005261923.2:c.257G>A, XM_005261923.1:c.257G>A, XM_011530700.3:c.161G>A, XM_011530700.2:c.161G>A, XM_011530700.1:c.161G>A, NM_018995.3:c.317G>A, NM_018995.2:c.317G>A, XM_011530697.2:c.257G>A, XM_011530697.1:c.257G>A, NM_001164105.2:c.257G>A, NM_001164105.1:c.257G>A, XM_011530696.2:c.317G>A, XM_011530696.1:c.317G>A, XM_011530699.2:c.161G>A, XM_011530699.1:c.161G>A, XM_017028833.2:c.317G>A, XM_017028833.1:c.317G>A, XM_011530698.2:c.317G>A, XM_011530698.1:c.317G>A, NM_001164104.2:c.317G>A, NM_001164104.1:c.317G>A, XM_017028834.2:c.317G>A, XM_017028834.1:c.317G>A, XM_011530701.1:c.317G>A, XM_017028837.1:c.317G>A, XM_047441414.1:c.317G>A, XM_011530704.1:c.317G>A, XP_005261980.1:p.Ser86Asn, XP_011529002.1:p.Ser54Asn, NP_061868.1:p.Ser106Asn, XP_011528999.1:p.Ser86Asn, NP_001157577.1:p.Ser86Asn, XP_011528998.1:p.Ser106Asn, XP_011529001.1:p.Ser54Asn, XP_016884322.1:p.Ser106Asn, XP_011529000.1:p.Ser106Asn, NP_001157576.1:p.Ser106Asn, XP_016884323.1:p.Ser106Asn, XP_011529003.1:p.Ser106Asn, XP_016884326.1:p.Ser106Asn, XP_047297370.1:p.Ser106Asn, XP_011529006.1:p.Ser106Asn

                      11.

                      rs1481999101 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,T [Show Flanks]
                        Chromosome:
                        22:50099514 (GRCh38)
                        22:50537943 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:50099513:A:C,NC_000022.11:50099513:A:T
                        Gene:
                        MOV10L1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000022.11:g.50099514A>C, NC_000022.11:g.50099514A>T, NC_000022.10:g.50537943A>C, NC_000022.10:g.50537943A>T, XM_005261923.5:c.294A>C, XM_005261923.5:c.294A>T, XM_005261923.4:c.294A>C, XM_005261923.4:c.294A>T, XM_005261923.3:c.294A>C, XM_005261923.3:c.294A>T, XM_005261923.2:c.294A>C, XM_005261923.2:c.294A>T, XM_005261923.1:c.294A>C, XM_005261923.1:c.294A>T, XM_011530700.3:c.198A>C, XM_011530700.3:c.198A>T, XM_011530700.2:c.198A>C, XM_011530700.2:c.198A>T, XM_011530700.1:c.198A>C, XM_011530700.1:c.198A>T, NM_018995.3:c.354A>C, NM_018995.3:c.354A>T, NM_018995.2:c.354A>C, NM_018995.2:c.354A>T, XM_011530697.2:c.294A>C, XM_011530697.2:c.294A>T, XM_011530697.1:c.294A>C, XM_011530697.1:c.294A>T, NM_001164105.2:c.294A>C, NM_001164105.2:c.294A>T, NM_001164105.1:c.294A>C, NM_001164105.1:c.294A>T, XM_011530696.2:c.354A>C, XM_011530696.2:c.354A>T, XM_011530696.1:c.354A>C, XM_011530696.1:c.354A>T, XM_011530699.2:c.198A>C, XM_011530699.2:c.198A>T, XM_011530699.1:c.198A>C, XM_011530699.1:c.198A>T, XM_017028833.2:c.354A>C, XM_017028833.2:c.354A>T, XM_017028833.1:c.354A>C, XM_017028833.1:c.354A>T, XM_011530698.2:c.354A>C, XM_011530698.2:c.354A>T, XM_011530698.1:c.354A>C, XM_011530698.1:c.354A>T, NM_001164104.2:c.354A>C, NM_001164104.2:c.354A>T, NM_001164104.1:c.354A>C, NM_001164104.1:c.354A>T, XM_017028834.2:c.354A>C, XM_017028834.2:c.354A>T, XM_017028834.1:c.354A>C, XM_017028834.1:c.354A>T, XM_011530701.1:c.354A>C, XM_011530701.1:c.354A>T, XM_017028837.1:c.354A>C, XM_017028837.1:c.354A>T, XM_047441414.1:c.354A>C, XM_047441414.1:c.354A>T, XM_011530704.1:c.354A>C, XM_011530704.1:c.354A>T

                        12.

                        rs1481947251 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:50108760 (GRCh38)
                          22:50547189 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:50108759:G:A
                          Gene:
                          MOV10L1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.50108760G>A, NC_000022.10:g.50547189G>A, XM_005261923.5:c.599G>A, XM_005261923.4:c.599G>A, XM_005261923.3:c.599G>A, XM_005261923.2:c.599G>A, XM_005261923.1:c.599G>A, XM_011530700.3:c.503G>A, XM_011530700.2:c.503G>A, XM_011530700.1:c.503G>A, NM_018995.3:c.659G>A, NM_018995.2:c.659G>A, XM_011530697.2:c.599G>A, XM_011530697.1:c.599G>A, NM_001164105.2:c.599G>A, NM_001164105.1:c.599G>A, XM_011530696.2:c.659G>A, XM_011530696.1:c.659G>A, XM_011530699.2:c.503G>A, XM_011530699.1:c.503G>A, XM_017028833.2:c.659G>A, XM_017028833.1:c.659G>A, XM_011530698.2:c.659G>A, XM_011530698.1:c.659G>A, NM_001164104.2:c.659G>A, NM_001164104.1:c.659G>A, XM_017028834.2:c.659G>A, XM_017028834.1:c.659G>A, XM_011530701.1:c.659G>A, XM_047441413.1:c.-65G>A, XM_017028837.1:c.659G>A, XM_047441414.1:c.659G>A, XM_011530704.1:c.659G>A, XP_005261980.1:p.Gly200Asp, XP_011529002.1:p.Gly168Asp, NP_061868.1:p.Gly220Asp, XP_011528999.1:p.Gly200Asp, NP_001157577.1:p.Gly200Asp, XP_011528998.1:p.Gly220Asp, XP_011529001.1:p.Gly168Asp, XP_016884322.1:p.Gly220Asp, XP_011529000.1:p.Gly220Asp, NP_001157576.1:p.Gly220Asp, XP_016884323.1:p.Gly220Asp, XP_011529003.1:p.Gly220Asp, XP_016884326.1:p.Gly220Asp, XP_047297370.1:p.Gly220Asp, XP_011529006.1:p.Gly220Asp

                          13.

                          rs1481848979 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:50114485 (GRCh38)
                            22:50552914 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:50114484:C:T
                            Gene:
                            MOV10L1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000022.11:g.50114485C>T, NC_000022.10:g.50552914C>T, XM_005261923.5:c.929C>T, XM_005261923.4:c.929C>T, XM_005261923.3:c.929C>T, XM_005261923.2:c.929C>T, XM_005261923.1:c.929C>T, XM_011530700.3:c.833C>T, XM_011530700.2:c.833C>T, XM_011530700.1:c.833C>T, NM_018995.3:c.989C>T, NM_018995.2:c.989C>T, XM_011530697.2:c.929C>T, XM_011530697.1:c.929C>T, NM_001164105.2:c.929C>T, NM_001164105.1:c.929C>T, XM_011530696.2:c.989C>T, XM_011530696.1:c.989C>T, XM_011530699.2:c.833C>T, XM_011530699.1:c.833C>T, XM_017028833.2:c.989C>T, XM_017028833.1:c.989C>T, XM_011530698.2:c.848C>T, XM_011530698.1:c.848C>T, NM_001164104.2:c.989C>T, NM_001164104.1:c.989C>T, XM_017028834.2:c.989C>T, XM_017028834.1:c.989C>T, XM_011530701.1:c.989C>T, XM_047441413.1:c.266C>T, XM_017028837.1:c.989C>T, XM_047441414.1:c.989C>T, XM_011530704.1:c.989C>T, XP_005261980.1:p.Pro310Leu, XP_011529002.1:p.Pro278Leu, NP_061868.1:p.Pro330Leu, XP_011528999.1:p.Pro310Leu, NP_001157577.1:p.Pro310Leu, XP_011528998.1:p.Pro330Leu, XP_011529001.1:p.Pro278Leu, XP_016884322.1:p.Pro330Leu, XP_011529000.1:p.Pro283Leu, NP_001157576.1:p.Pro330Leu, XP_016884323.1:p.Pro330Leu, XP_011529003.1:p.Pro330Leu, XP_047297369.1:p.Pro89Leu, XP_016884326.1:p.Pro330Leu, XP_047297370.1:p.Pro330Leu, XP_011529006.1:p.Pro330Leu

                            14.

                            rs1481717410 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              22:50153066 (GRCh38)
                              22:50591495 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:50153065:T:A
                              Gene:
                              MOV10L1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000022.11:g.50153066T>A, NC_000022.10:g.50591495T>A, XM_005261923.5:c.2854T>A, XM_005261923.4:c.2854T>A, XM_005261923.3:c.2854T>A, XM_005261923.2:c.2854T>A, XM_005261923.1:c.2854T>A, XM_011530700.3:c.2758T>A, XM_011530700.2:c.2758T>A, XM_011530700.1:c.2758T>A, NM_018995.3:c.2914T>A, NM_018995.2:c.2914T>A, XM_011530697.2:c.2854T>A, XM_011530697.1:c.2854T>A, NM_001164105.2:c.2854T>A, NM_001164105.1:c.2854T>A, XM_011530696.2:c.2914T>A, XM_011530696.1:c.2914T>A, XM_011530699.2:c.2758T>A, XM_011530699.1:c.2758T>A, XM_017028833.2:c.2914T>A, XM_017028833.1:c.2914T>A, XM_011530698.2:c.2773T>A, XM_011530698.1:c.2773T>A, NM_001164104.2:c.2914T>A, NM_001164104.1:c.2914T>A, XM_017028835.2:c.1336T>A, XM_017028835.1:c.1336T>A, XM_017028836.2:c.1336T>A, XM_017028836.1:c.1336T>A, XM_011530701.1:c.2914T>A, XM_047441413.1:c.2191T>A, XM_047441414.1:c.*6T>A, XM_047441415.1:c.1336T>A, NM_001164106.1:c.295T>A, XP_005261980.1:p.Tyr952Asn, XP_011529002.1:p.Tyr920Asn, NP_061868.1:p.Tyr972Asn, XP_011528999.1:p.Tyr952Asn, NP_001157577.1:p.Tyr952Asn, XP_011528998.1:p.Tyr972Asn, XP_011529001.1:p.Tyr920Asn, XP_016884322.1:p.Tyr972Asn, XP_011529000.1:p.Tyr925Asn, NP_001157576.1:p.Tyr972Asn, XP_016884324.1:p.Tyr446Asn, XP_016884325.1:p.Tyr446Asn, XP_011529003.1:p.Tyr972Asn, XP_047297369.1:p.Tyr731Asn, XP_047297371.1:p.Tyr446Asn, NP_001157578.1:p.Tyr99Asn

                              15.

                              rs1480758812 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                22:50145723 (GRCh38)
                                22:50584152 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:50145722:A:G
                                Gene:
                                MOV10L1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000022.11:g.50145723A>G, NC_000022.10:g.50584152A>G, XM_005261923.5:c.2480A>G, XM_005261923.4:c.2480A>G, XM_005261923.3:c.2480A>G, XM_005261923.2:c.2480A>G, XM_005261923.1:c.2480A>G, XM_011530700.3:c.2384A>G, XM_011530700.2:c.2384A>G, XM_011530700.1:c.2384A>G, NM_018995.3:c.2540A>G, NM_018995.2:c.2540A>G, XM_011530697.2:c.2480A>G, XM_011530697.1:c.2480A>G, NM_001164105.2:c.2480A>G, NM_001164105.1:c.2480A>G, XM_011530696.2:c.2540A>G, XM_011530696.1:c.2540A>G, XM_011530699.2:c.2384A>G, XM_011530699.1:c.2384A>G, XM_017028833.2:c.2540A>G, XM_017028833.1:c.2540A>G, XM_011530698.2:c.2399A>G, XM_011530698.1:c.2399A>G, NM_001164104.2:c.2540A>G, NM_001164104.1:c.2540A>G, XM_017028835.2:c.962A>G, XM_017028835.1:c.962A>G, XM_017028836.2:c.962A>G, XM_017028836.1:c.962A>G, XM_011530701.1:c.2540A>G, XM_047441413.1:c.1817A>G, XM_047441414.1:c.2540A>G, XM_047441415.1:c.962A>G, XP_005261980.1:p.Asp827Gly, XP_011529002.1:p.Asp795Gly, NP_061868.1:p.Asp847Gly, XP_011528999.1:p.Asp827Gly, NP_001157577.1:p.Asp827Gly, XP_011528998.1:p.Asp847Gly, XP_011529001.1:p.Asp795Gly, XP_016884322.1:p.Asp847Gly, XP_011529000.1:p.Asp800Gly, NP_001157576.1:p.Asp847Gly, XP_016884324.1:p.Asp321Gly, XP_016884325.1:p.Asp321Gly, XP_011529003.1:p.Asp847Gly, XP_047297369.1:p.Asp606Gly, XP_047297370.1:p.Asp847Gly, XP_047297371.1:p.Asp321Gly

                                16.

                                rs1479684172 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  22:50144185 (GRCh38)
                                  22:50582614 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:50144184:G:T
                                  Gene:
                                  MOV10L1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                  Clinical significance:
                                  pathogenic
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000022.11:g.50144185G>T, NC_000022.10:g.50582614G>T, XM_005261923.5:c.2387G>T, XM_005261923.4:c.2387G>T, XM_005261923.3:c.2387G>T, XM_005261923.2:c.2387G>T, XM_005261923.1:c.2387G>T, XM_011530700.3:c.2291G>T, XM_011530700.2:c.2291G>T, XM_011530700.1:c.2291G>T, NM_018995.3:c.2447G>T, NM_018995.2:c.2447G>T, XM_011530697.2:c.2387G>T, XM_011530697.1:c.2387G>T, NM_001164105.2:c.2387G>T, NM_001164105.1:c.2387G>T, XM_011530696.2:c.2447G>T, XM_011530696.1:c.2447G>T, XM_011530699.2:c.2291G>T, XM_011530699.1:c.2291G>T, XM_017028833.2:c.2447G>T, XM_017028833.1:c.2447G>T, XM_011530698.2:c.2306G>T, XM_011530698.1:c.2306G>T, NM_001164104.2:c.2447G>T, NM_001164104.1:c.2447G>T, XM_017028835.2:c.869G>T, XM_017028835.1:c.869G>T, XM_017028836.2:c.869G>T, XM_017028836.1:c.869G>T, XM_011530701.1:c.2447G>T, XM_047441413.1:c.1724G>T, XM_047441414.1:c.2447G>T, XM_047441415.1:c.869G>T, XP_005261980.1:p.Ser796Ile, XP_011529002.1:p.Ser764Ile, NP_061868.1:p.Ser816Ile, XP_011528999.1:p.Ser796Ile, NP_001157577.1:p.Ser796Ile, XP_011528998.1:p.Ser816Ile, XP_011529001.1:p.Ser764Ile, XP_016884322.1:p.Ser816Ile, XP_011529000.1:p.Ser769Ile, NP_001157576.1:p.Ser816Ile, XP_016884324.1:p.Ser290Ile, XP_016884325.1:p.Ser290Ile, XP_011529003.1:p.Ser816Ile, XP_047297369.1:p.Ser575Ile, XP_047297370.1:p.Ser816Ile, XP_047297371.1:p.Ser290Ile

                                  17.

                                  rs1479462872 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:50159699 (GRCh38)
                                    22:50598128 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:50159698:T:C
                                    Gene:
                                    MOV10L1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    NC_000022.11:g.50159699T>C, NC_000022.10:g.50598128T>C, XM_005261923.5:c.3178T>C, XM_005261923.4:c.3178T>C, XM_005261923.3:c.3178T>C, XM_005261923.2:c.3178T>C, XM_005261923.1:c.3178T>C, XM_011530700.3:c.3217T>C, XM_011530700.2:c.3217T>C, XM_011530700.1:c.3217T>C, NM_018995.3:c.3238T>C, NM_018995.2:c.3238T>C, XM_011530697.2:c.3313T>C, XM_011530697.1:c.3313T>C, NM_001164105.2:c.3178T>C, NM_001164105.1:c.3178T>C, XM_011530696.2:c.3373T>C, XM_011530696.1:c.3373T>C, XM_011530699.2:c.3217T>C, XM_011530699.1:c.3217T>C, XM_017028833.2:c.3373T>C, XM_017028833.1:c.3373T>C, XM_011530698.2:c.3232T>C, XM_011530698.1:c.3232T>C, NM_001164104.2:c.3238T>C, NM_001164104.1:c.3238T>C, XM_017028835.2:c.1795T>C, XM_017028835.1:c.1795T>C, XM_017028836.2:c.1795T>C, XM_017028836.1:c.1795T>C, XM_047441413.1:c.2515T>C, XM_047441415.1:c.1795T>C, NM_001164106.1:c.619T>C

                                    18.

                                    rs1478696777 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      22:50120534 (GRCh38)
                                      22:50558963 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:50120533:C:T
                                      Gene:
                                      MOV10L1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000047/1 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000022.11:g.50120534C>T, NC_000022.10:g.50558963C>T, XM_005261923.5:c.1427C>T, XM_005261923.4:c.1427C>T, XM_005261923.3:c.1427C>T, XM_005261923.2:c.1427C>T, XM_005261923.1:c.1427C>T, XM_011530700.3:c.1331C>T, XM_011530700.2:c.1331C>T, XM_011530700.1:c.1331C>T, NM_018995.3:c.1487C>T, NM_018995.2:c.1487C>T, XM_011530697.2:c.1427C>T, XM_011530697.1:c.1427C>T, NM_001164105.2:c.1427C>T, NM_001164105.1:c.1427C>T, XM_011530696.2:c.1487C>T, XM_011530696.1:c.1487C>T, XM_011530699.2:c.1331C>T, XM_011530699.1:c.1331C>T, XM_017028833.2:c.1487C>T, XM_017028833.1:c.1487C>T, XM_011530698.2:c.1346C>T, XM_011530698.1:c.1346C>T, NM_001164104.2:c.1487C>T, NM_001164104.1:c.1487C>T, XM_017028834.2:c.1487C>T, XM_017028834.1:c.1487C>T, XM_011530701.1:c.1487C>T, XM_047441413.1:c.764C>T, XM_017028837.1:c.1487C>T, XM_047441414.1:c.1487C>T, XM_011530704.1:c.1487C>T, XP_005261980.1:p.Pro476Leu, XP_011529002.1:p.Pro444Leu, NP_061868.1:p.Pro496Leu, XP_011528999.1:p.Pro476Leu, NP_001157577.1:p.Pro476Leu, XP_011528998.1:p.Pro496Leu, XP_011529001.1:p.Pro444Leu, XP_016884322.1:p.Pro496Leu, XP_011529000.1:p.Pro449Leu, NP_001157576.1:p.Pro496Leu, XP_016884323.1:p.Pro496Leu, XP_011529003.1:p.Pro496Leu, XP_047297369.1:p.Pro255Leu, XP_016884326.1:p.Pro496Leu, XP_047297370.1:p.Pro496Leu, XP_011529006.1:p.Pro496Leu

                                      19.

                                      rs1478144026 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        22:50120519 (GRCh38)
                                        22:50558948 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:50120518:T:A
                                        Gene:
                                        MOV10L1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.50120519T>A, NC_000022.10:g.50558948T>A, XM_005261923.5:c.1412T>A, XM_005261923.4:c.1412T>A, XM_005261923.3:c.1412T>A, XM_005261923.2:c.1412T>A, XM_005261923.1:c.1412T>A, XM_011530700.3:c.1316T>A, XM_011530700.2:c.1316T>A, XM_011530700.1:c.1316T>A, NM_018995.3:c.1472T>A, NM_018995.2:c.1472T>A, XM_011530697.2:c.1412T>A, XM_011530697.1:c.1412T>A, NM_001164105.2:c.1412T>A, NM_001164105.1:c.1412T>A, XM_011530696.2:c.1472T>A, XM_011530696.1:c.1472T>A, XM_011530699.2:c.1316T>A, XM_011530699.1:c.1316T>A, XM_017028833.2:c.1472T>A, XM_017028833.1:c.1472T>A, XM_011530698.2:c.1331T>A, XM_011530698.1:c.1331T>A, NM_001164104.2:c.1472T>A, NM_001164104.1:c.1472T>A, XM_017028834.2:c.1472T>A, XM_017028834.1:c.1472T>A, XM_011530701.1:c.1472T>A, XM_047441413.1:c.749T>A, XM_017028837.1:c.1472T>A, XM_047441414.1:c.1472T>A, XM_011530704.1:c.1472T>A, XP_005261980.1:p.Leu471His, XP_011529002.1:p.Leu439His, NP_061868.1:p.Leu491His, XP_011528999.1:p.Leu471His, NP_001157577.1:p.Leu471His, XP_011528998.1:p.Leu491His, XP_011529001.1:p.Leu439His, XP_016884322.1:p.Leu491His, XP_011529000.1:p.Leu444His, NP_001157576.1:p.Leu491His, XP_016884323.1:p.Leu491His, XP_011529003.1:p.Leu491His, XP_047297369.1:p.Leu250His, XP_016884326.1:p.Leu491His, XP_047297370.1:p.Leu491His, XP_011529006.1:p.Leu491His

                                        20.

                                        rs1477433279 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:50114575 (GRCh38)
                                          22:50553004 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:50114574:C:T
                                          Gene:
                                          MOV10L1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.50114575C>T, NC_000022.10:g.50553004C>T, XM_005261923.5:c.1019C>T, XM_005261923.4:c.1019C>T, XM_005261923.3:c.1019C>T, XM_005261923.2:c.1019C>T, XM_005261923.1:c.1019C>T, XM_011530700.3:c.923C>T, XM_011530700.2:c.923C>T, XM_011530700.1:c.923C>T, NM_018995.3:c.1079C>T, NM_018995.2:c.1079C>T, XM_011530697.2:c.1019C>T, XM_011530697.1:c.1019C>T, NM_001164105.2:c.1019C>T, NM_001164105.1:c.1019C>T, XM_011530696.2:c.1079C>T, XM_011530696.1:c.1079C>T, XM_011530699.2:c.923C>T, XM_011530699.1:c.923C>T, XM_017028833.2:c.1079C>T, XM_017028833.1:c.1079C>T, XM_011530698.2:c.938C>T, XM_011530698.1:c.938C>T, NM_001164104.2:c.1079C>T, NM_001164104.1:c.1079C>T, XM_017028834.2:c.1079C>T, XM_017028834.1:c.1079C>T, XM_011530701.1:c.1079C>T, XM_047441413.1:c.356C>T, XM_017028837.1:c.1079C>T, XM_047441414.1:c.1079C>T, XM_011530704.1:c.1079C>T, XP_005261980.1:p.Ser340Phe, XP_011529002.1:p.Ser308Phe, NP_061868.1:p.Ser360Phe, XP_011528999.1:p.Ser340Phe, NP_001157577.1:p.Ser340Phe, XP_011528998.1:p.Ser360Phe, XP_011529001.1:p.Ser308Phe, XP_016884322.1:p.Ser360Phe, XP_011529000.1:p.Ser313Phe, NP_001157576.1:p.Ser360Phe, XP_016884323.1:p.Ser360Phe, XP_011529003.1:p.Ser360Phe, XP_047297369.1:p.Ser119Phe, XP_016884326.1:p.Ser360Phe, XP_047297370.1:p.Ser360Phe, XP_011529006.1:p.Ser360Phe

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