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Items: 1 to 20 of 1602

1.

rs1489409237 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:124405180 (GRCh38)
    X:123539030 (GRCh37)
    Canonical SPDI:
    NC_000023.11:124405179:C:T
    Gene:
    TENM1 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    HGVS:
    NC_000023.11:g.124405180C>T, NC_000023.10:g.123539030C>T, NG_013249.2:g.804132G>A, NG_013249.1:g.563637G>A, NM_014253.3:c.5221G>A, NM_001163278.2:c.5242G>A, NM_001163278.1:c.5242G>A, NM_001163279.1:c.5239G>A, NG_033796.2:g.449621C>T, XM_011531236.4:c.2947G>A, XM_011531236.3:c.2947G>A, XM_011531236.2:c.2947G>A, XM_011531236.1:c.1357G>A, XM_017029209.3:c.5341G>A, XM_017029209.2:c.5341G>A, XM_017029209.1:c.5341G>A, XM_017029211.3:c.5341G>A, XM_017029211.2:c.5341G>A, XM_017029211.1:c.5341G>A, XM_017029208.3:c.5341G>A, XM_017029208.2:c.5341G>A, XM_017029208.1:c.5341G>A, XM_017029213.3:c.5341G>A, XM_017029213.2:c.5341G>A, XM_017029213.1:c.5341G>A, XM_017029210.3:c.5341G>A, XM_017029210.2:c.5341G>A, XM_017029210.1:c.5341G>A, XM_017029214.3:c.5221G>A, XM_017029214.2:c.5221G>A, XM_017029214.1:c.5221G>A, XM_011531237.3:c.1246G>A, XM_011531237.2:c.1246G>A, XM_011531237.1:c.1246G>A, XM_047441759.1:c.5341G>A, XM_047441760.1:c.5197G>A, XM_047441761.1:c.1594G>A, XM_047441762.1:c.1495G>A, NP_055068.2:p.Glu1741Lys, NP_001156750.1:p.Glu1748Lys, NP_001156751.1:p.Glu1747Lys, XP_011529538.2:p.Glu983Lys, XP_016884698.1:p.Glu1781Lys, XP_016884700.1:p.Glu1781Lys, XP_016884697.1:p.Glu1781Lys, XP_016884702.1:p.Glu1781Lys, XP_016884699.1:p.Glu1781Lys, XP_016884703.1:p.Glu1741Lys, XP_011529539.1:p.Glu416Lys, XP_047297715.1:p.Glu1781Lys, XP_047297716.1:p.Glu1733Lys, XP_047297717.1:p.Glu532Lys, XP_047297718.1:p.Glu499Lys

    2.

    rs1489356775 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:124422342 (GRCh38)
      X:123556192 (GRCh37)
      Canonical SPDI:
      NC_000023.11:124422341:C:T
      Gene:
      TENM1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.00001/1 (GnomAD)
      T=0.000011/2 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.124422342C>T, NC_000023.10:g.123556192C>T, NG_013249.2:g.786970G>A, NG_013249.1:g.546475G>A, NM_014253.3:c.4380G>A, NM_001163278.2:c.4401G>A, NM_001163278.1:c.4401G>A, NM_001163279.1:c.4398G>A, NG_033796.2:g.466783C>T, XM_011531236.4:c.2106G>A, XM_011531236.3:c.2106G>A, XM_011531236.2:c.2106G>A, XM_011531236.1:c.516G>A, XM_017029209.3:c.4500G>A, XM_017029209.2:c.4500G>A, XM_017029209.1:c.4500G>A, XM_017029211.3:c.4500G>A, XM_017029211.2:c.4500G>A, XM_017029211.1:c.4500G>A, XM_017029208.3:c.4500G>A, XM_017029208.2:c.4500G>A, XM_017029208.1:c.4500G>A, XM_017029213.3:c.4500G>A, XM_017029213.2:c.4500G>A, XM_017029213.1:c.4500G>A, XM_017029210.3:c.4500G>A, XM_017029210.2:c.4500G>A, XM_017029210.1:c.4500G>A, XM_017029214.3:c.4380G>A, XM_017029214.2:c.4380G>A, XM_017029214.1:c.4380G>A, XM_011531237.3:c.405G>A, XM_011531237.2:c.405G>A, XM_011531237.1:c.405G>A, XM_047441759.1:c.4500G>A, XM_047441760.1:c.4356G>A, XM_047441761.1:c.753G>A, XM_047441762.1:c.654G>A

      3.

      rs1488695739 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:124384732 (GRCh38)
        X:123518582 (GRCh37)
        Canonical SPDI:
        NC_000023.11:124384731:A:G
        Gene:
        TENM1 (Varview), LOC105373331 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.00001/1 (GnomAD)
        HGVS:
        NC_000023.11:g.124384732A>G, NC_000023.10:g.123518582A>G, NG_013249.2:g.824580T>C, NG_013249.1:g.584085T>C, NM_014253.3:c.6178T>C, NM_001163278.2:c.6199T>C, NM_001163278.1:c.6199T>C, NM_001163279.1:c.6196T>C, NG_033796.2:g.429173A>G, XM_011531236.4:c.3904T>C, XM_011531236.3:c.3904T>C, XM_011531236.2:c.3904T>C, XM_011531236.1:c.2314T>C, XM_017029209.3:c.6298T>C, XM_017029209.2:c.6298T>C, XM_017029209.1:c.6298T>C, XM_017029211.3:c.6298T>C, XM_017029211.2:c.6298T>C, XM_017029211.1:c.6298T>C, XM_017029208.3:c.6298T>C, XM_017029208.2:c.6298T>C, XM_017029208.1:c.6298T>C, XM_017029213.3:c.6298T>C, XM_017029213.2:c.6298T>C, XM_017029213.1:c.6298T>C, XM_017029210.3:c.6298T>C, XM_017029210.2:c.6298T>C, XM_017029210.1:c.6298T>C, XM_017029214.3:c.6178T>C, XM_017029214.2:c.6178T>C, XM_017029214.1:c.6178T>C, XM_011531237.3:c.2203T>C, XM_011531237.2:c.2203T>C, XM_011531237.1:c.2203T>C, XM_047441759.1:c.6298T>C, XM_047441760.1:c.6154T>C, XM_047441761.1:c.2551T>C, XM_047441762.1:c.2452T>C

        4.

        rs1488373358 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:124453454 (GRCh38)
          X:123587304 (GRCh37)
          Canonical SPDI:
          NC_000023.11:124453453:C:T
          Gene:
          TENM1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          T=0.000011/2 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.124453454C>T, NC_000023.10:g.123587304C>T, NG_013249.2:g.755858G>A, NG_013249.1:g.515363G>A, NM_014253.3:c.3966G>A, NM_001163278.2:c.3987G>A, NM_001163278.1:c.3987G>A, NM_001163279.1:c.3984G>A, XM_011531236.4:c.1692G>A, XM_011531236.3:c.1692G>A, XM_011531236.2:c.1692G>A, XM_011531236.1:c.102G>A, XM_017029209.3:c.4086G>A, XM_017029209.2:c.4086G>A, XM_017029209.1:c.4086G>A, XM_017029211.3:c.4086G>A, XM_017029211.2:c.4086G>A, XM_017029211.1:c.4086G>A, XM_017029208.3:c.4086G>A, XM_017029208.2:c.4086G>A, XM_017029208.1:c.4086G>A, XM_017029213.3:c.4086G>A, XM_017029213.2:c.4086G>A, XM_017029213.1:c.4086G>A, XM_017029210.3:c.4086G>A, XM_017029210.2:c.4086G>A, XM_017029210.1:c.4086G>A, XM_017029214.3:c.3966G>A, XM_017029214.2:c.3966G>A, XM_017029214.1:c.3966G>A, XM_011531237.3:c.-10G>A, XM_011531237.2:c.-10G>A, XM_011531237.1:c.-10G>A, XM_047441759.1:c.4086G>A, XM_047441760.1:c.3942G>A, XM_047441761.1:c.339G>A, XM_047441762.1:c.240G>A

          5.

          rs1488298232 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            X:124481927 (GRCh38)
            X:123615777 (GRCh37)
            Canonical SPDI:
            NC_000023.11:124481926:G:T
            Gene:
            TENM1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000011/2 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.124481927G>T, NC_000023.10:g.123615777G>T, NG_013249.2:g.727385C>A, NG_013249.1:g.486890C>A, NM_014253.3:c.3733C>A, NM_001163278.2:c.3754C>A, NM_001163278.1:c.3754C>A, NM_001163279.1:c.3751C>A, XM_011531236.4:c.1360C>A, XM_011531236.3:c.1360C>A, XM_011531236.2:c.1360C>A, XM_017029209.3:c.3754C>A, XM_017029209.2:c.3754C>A, XM_017029209.1:c.3754C>A, XM_017029211.3:c.3754C>A, XM_017029211.2:c.3754C>A, XM_017029211.1:c.3754C>A, XM_017029208.3:c.3754C>A, XM_017029208.2:c.3754C>A, XM_017029208.1:c.3754C>A, XM_017029213.3:c.3754C>A, XM_017029213.2:c.3754C>A, XM_017029213.1:c.3754C>A, XM_017029210.3:c.3754C>A, XM_017029210.2:c.3754C>A, XM_017029210.1:c.3754C>A, XM_017029214.3:c.3733C>A, XM_017029214.2:c.3733C>A, XM_017029214.1:c.3733C>A, XM_047441759.1:c.3754C>A, XM_047441760.1:c.3709C>A, XM_047441761.1:c.7C>A, XM_047441762.1:c.7C>A, NP_055068.2:p.Pro1245Thr, NP_001156750.1:p.Pro1252Thr, NP_001156751.1:p.Pro1251Thr, XP_011529538.2:p.Pro454Thr, XP_016884698.1:p.Pro1252Thr, XP_016884700.1:p.Pro1252Thr, XP_016884697.1:p.Pro1252Thr, XP_016884702.1:p.Pro1252Thr, XP_016884699.1:p.Pro1252Thr, XP_016884703.1:p.Pro1245Thr, XP_047297715.1:p.Pro1252Thr, XP_047297716.1:p.Pro1237Thr, XP_047297717.1:p.Pro3Thr, XP_047297718.1:p.Pro3Thr

            6.

            rs1487956192 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:124380668 (GRCh38)
              X:123514518 (GRCh37)
              Canonical SPDI:
              NC_000023.11:124380667:C:T
              Gene:
              TENM1 (Varview), LOC105373331 (Varview)
              Functional Consequence:
              upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000023.11:g.124380668C>T, NC_000023.10:g.123514518C>T, NG_013249.2:g.828644G>A, NG_013249.1:g.588149G>A, NM_014253.3:c.8046G>A, NM_001163278.2:c.8067G>A, NM_001163278.1:c.8067G>A, NM_001163279.1:c.8064G>A, NG_033796.2:g.425109C>T, XM_011531236.4:c.5772G>A, XM_011531236.3:c.5772G>A, XM_011531236.2:c.5772G>A, XM_011531236.1:c.4182G>A, XM_017029209.3:c.8166G>A, XM_017029209.2:c.8166G>A, XM_017029209.1:c.8166G>A, XM_017029211.3:c.8166G>A, XM_017029211.2:c.8166G>A, XM_017029211.1:c.8166G>A, XM_017029208.3:c.8166G>A, XM_017029208.2:c.8166G>A, XM_017029208.1:c.8166G>A, XM_017029213.3:c.8166G>A, XM_017029213.2:c.8166G>A, XM_017029213.1:c.8166G>A, XM_017029210.3:c.8166G>A, XM_017029210.2:c.8166G>A, XM_017029210.1:c.8166G>A, XM_017029214.3:c.8046G>A, XM_017029214.2:c.8046G>A, XM_017029214.1:c.8046G>A, XM_011531237.3:c.4071G>A, XM_011531237.2:c.4071G>A, XM_011531237.1:c.4071G>A, XM_047441759.1:c.8166G>A, XM_047441760.1:c.8022G>A, XM_047441761.1:c.4419G>A, XM_047441762.1:c.4320G>A

              7.

              rs1487283805 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:124422465 (GRCh38)
                X:123556315 (GRCh37)
                Canonical SPDI:
                NC_000023.11:124422464:T:C
                Gene:
                TENM1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.00001/1 (GnomAD)
                HGVS:
                NC_000023.11:g.124422465T>C, NC_000023.10:g.123556315T>C, NG_013249.2:g.786847A>G, NG_013249.1:g.546352A>G, NM_014253.3:c.4257A>G, NM_001163278.2:c.4278A>G, NM_001163278.1:c.4278A>G, NM_001163279.1:c.4275A>G, NG_033796.2:g.466906T>C, XM_011531236.4:c.1983A>G, XM_011531236.3:c.1983A>G, XM_011531236.2:c.1983A>G, XM_011531236.1:c.393A>G, XM_017029209.3:c.4377A>G, XM_017029209.2:c.4377A>G, XM_017029209.1:c.4377A>G, XM_017029211.3:c.4377A>G, XM_017029211.2:c.4377A>G, XM_017029211.1:c.4377A>G, XM_017029208.3:c.4377A>G, XM_017029208.2:c.4377A>G, XM_017029208.1:c.4377A>G, XM_017029213.3:c.4377A>G, XM_017029213.2:c.4377A>G, XM_017029213.1:c.4377A>G, XM_017029210.3:c.4377A>G, XM_017029210.2:c.4377A>G, XM_017029210.1:c.4377A>G, XM_017029214.3:c.4257A>G, XM_017029214.2:c.4257A>G, XM_017029214.1:c.4257A>G, XM_011531237.3:c.282A>G, XM_011531237.2:c.282A>G, XM_011531237.1:c.282A>G, XM_047441759.1:c.4377A>G, XM_047441760.1:c.4233A>G, XM_047441761.1:c.630A>G, XM_047441762.1:c.531A>G

                8.

                rs1486393547 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:124963612 (GRCh38)
                  X:124097461 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:124963611:C:T
                  Gene:
                  TENM1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000005/1 (GnomAD_exomes)
                  T=0.00001/1 (GnomAD)
                  T=0.000045/12 (TOPMED)
                  HGVS:
                  NC_000023.11:g.124963612C>T, NC_000023.10:g.124097461C>T, NG_013249.2:g.245700G>A, NG_013249.1:g.5206G>A, NM_014253.3:c.142G>A, NM_001163278.2:c.142G>A, NM_001163278.1:c.142G>A, NM_001163279.1:c.142G>A, XM_017029209.3:c.142G>A, XM_017029209.2:c.142G>A, XM_017029209.1:c.142G>A, XM_017029211.3:c.142G>A, XM_017029211.2:c.142G>A, XM_017029211.1:c.142G>A, XM_017029208.3:c.142G>A, XM_017029208.2:c.142G>A, XM_017029208.1:c.142G>A, XM_017029213.3:c.142G>A, XM_017029213.2:c.142G>A, XM_017029213.1:c.142G>A, XM_017029210.3:c.142G>A, XM_017029210.2:c.142G>A, XM_017029210.1:c.142G>A, XM_017029214.3:c.142G>A, XM_017029214.2:c.142G>A, XM_017029214.1:c.142G>A, XM_017029215.3:c.142G>A, XM_017029215.2:c.142G>A, XM_017029215.1:c.142G>A, XM_017029216.3:c.142G>A, XM_017029216.2:c.142G>A, XM_017029216.1:c.142G>A, XM_047441759.1:c.142G>A, XM_047441760.1:c.142G>A, NP_055068.2:p.Glu48Lys, NP_001156750.1:p.Glu48Lys, NP_001156751.1:p.Glu48Lys, XP_016884698.1:p.Glu48Lys, XP_016884700.1:p.Glu48Lys, XP_016884697.1:p.Glu48Lys, XP_016884702.1:p.Glu48Lys, XP_016884699.1:p.Glu48Lys, XP_016884703.1:p.Glu48Lys, XP_016884704.1:p.Glu48Lys, XP_016884705.1:p.Glu48Lys, XP_047297715.1:p.Glu48Lys, XP_047297716.1:p.Glu48Lys

                  9.

                  rs1485918162 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    X:124383999 (GRCh38)
                    X:123517849 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:124383998:G:C
                    Gene:
                    TENM1 (Varview), LOC105373331 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.00001/1 (GnomAD)
                    HGVS:
                    NC_000023.11:g.124383999G>C, NC_000023.10:g.123517849G>C, NG_013249.2:g.825313C>G, NG_013249.1:g.584818C>G, NM_014253.3:c.6911C>G, NM_001163278.2:c.6932C>G, NM_001163278.1:c.6932C>G, NM_001163279.1:c.6929C>G, NG_033796.2:g.428440G>C, XM_011531236.4:c.4637C>G, XM_011531236.3:c.4637C>G, XM_011531236.2:c.4637C>G, XM_011531236.1:c.3047C>G, XM_017029209.3:c.7031C>G, XM_017029209.2:c.7031C>G, XM_017029209.1:c.7031C>G, XM_017029211.3:c.7031C>G, XM_017029211.2:c.7031C>G, XM_017029211.1:c.7031C>G, XM_017029208.3:c.7031C>G, XM_017029208.2:c.7031C>G, XM_017029208.1:c.7031C>G, XM_017029213.3:c.7031C>G, XM_017029213.2:c.7031C>G, XM_017029213.1:c.7031C>G, XM_017029210.3:c.7031C>G, XM_017029210.2:c.7031C>G, XM_017029210.1:c.7031C>G, XM_017029214.3:c.6911C>G, XM_017029214.2:c.6911C>G, XM_017029214.1:c.6911C>G, XM_011531237.3:c.2936C>G, XM_011531237.2:c.2936C>G, XM_011531237.1:c.2936C>G, XM_047441759.1:c.7031C>G, XM_047441760.1:c.6887C>G, XM_047441761.1:c.3284C>G, XM_047441762.1:c.3185C>G, NP_055068.2:p.Ala2304Gly, NP_001156750.1:p.Ala2311Gly, NP_001156751.1:p.Ala2310Gly, XP_011529538.2:p.Ala1546Gly, XP_016884698.1:p.Ala2344Gly, XP_016884700.1:p.Ala2344Gly, XP_016884697.1:p.Ala2344Gly, XP_016884702.1:p.Ala2344Gly, XP_016884699.1:p.Ala2344Gly, XP_016884703.1:p.Ala2304Gly, XP_011529539.1:p.Ala979Gly, XP_047297715.1:p.Ala2344Gly, XP_047297716.1:p.Ala2296Gly, XP_047297717.1:p.Ala1095Gly, XP_047297718.1:p.Ala1062Gly

                    10.

                    rs1485554170 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:124383866 (GRCh38)
                      X:123517716 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:124383865:G:A
                      Gene:
                      TENM1 (Varview), LOC105373331 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000142/2 (ALFA)
                      A=0.00001/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000023.11:g.124383866G>A, NC_000023.10:g.123517716G>A, NG_013249.2:g.825446C>T, NG_013249.1:g.584951C>T, NM_014253.3:c.7044C>T, NM_001163278.2:c.7065C>T, NM_001163278.1:c.7065C>T, NM_001163279.1:c.7062C>T, NG_033796.2:g.428307G>A, XM_011531236.4:c.4770C>T, XM_011531236.3:c.4770C>T, XM_011531236.2:c.4770C>T, XM_011531236.1:c.3180C>T, XM_017029209.3:c.7164C>T, XM_017029209.2:c.7164C>T, XM_017029209.1:c.7164C>T, XM_017029211.3:c.7164C>T, XM_017029211.2:c.7164C>T, XM_017029211.1:c.7164C>T, XM_017029208.3:c.7164C>T, XM_017029208.2:c.7164C>T, XM_017029208.1:c.7164C>T, XM_017029213.3:c.7164C>T, XM_017029213.2:c.7164C>T, XM_017029213.1:c.7164C>T, XM_017029210.3:c.7164C>T, XM_017029210.2:c.7164C>T, XM_017029210.1:c.7164C>T, XM_017029214.3:c.7044C>T, XM_017029214.2:c.7044C>T, XM_017029214.1:c.7044C>T, XM_011531237.3:c.3069C>T, XM_011531237.2:c.3069C>T, XM_011531237.1:c.3069C>T, XM_047441759.1:c.7164C>T, XM_047441760.1:c.7020C>T, XM_047441761.1:c.3417C>T, XM_047441762.1:c.3318C>T

                      11.

                      rs1484963306 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:124405074 (GRCh38)
                        X:123538924 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:124405073:T:C
                        Gene:
                        TENM1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.124405074T>C, NC_000023.10:g.123538924T>C, NG_013249.2:g.804238A>G, NG_013249.1:g.563743A>G, NM_014253.3:c.5327A>G, NM_001163278.2:c.5348A>G, NM_001163278.1:c.5348A>G, NM_001163279.1:c.5345A>G, NG_033796.2:g.449515T>C, XM_011531236.4:c.3053A>G, XM_011531236.3:c.3053A>G, XM_011531236.2:c.3053A>G, XM_011531236.1:c.1463A>G, XM_017029209.3:c.5447A>G, XM_017029209.2:c.5447A>G, XM_017029209.1:c.5447A>G, XM_017029211.3:c.5447A>G, XM_017029211.2:c.5447A>G, XM_017029211.1:c.5447A>G, XM_017029208.3:c.5447A>G, XM_017029208.2:c.5447A>G, XM_017029208.1:c.5447A>G, XM_017029213.3:c.5447A>G, XM_017029213.2:c.5447A>G, XM_017029213.1:c.5447A>G, XM_017029210.3:c.5447A>G, XM_017029210.2:c.5447A>G, XM_017029210.1:c.5447A>G, XM_017029214.3:c.5327A>G, XM_017029214.2:c.5327A>G, XM_017029214.1:c.5327A>G, XM_011531237.3:c.1352A>G, XM_011531237.2:c.1352A>G, XM_011531237.1:c.1352A>G, XM_047441759.1:c.5447A>G, XM_047441760.1:c.5303A>G, XM_047441761.1:c.1700A>G, XM_047441762.1:c.1601A>G, NP_055068.2:p.Glu1776Gly, NP_001156750.1:p.Glu1783Gly, NP_001156751.1:p.Glu1782Gly, XP_011529538.2:p.Glu1018Gly, XP_016884698.1:p.Glu1816Gly, XP_016884700.1:p.Glu1816Gly, XP_016884697.1:p.Glu1816Gly, XP_016884702.1:p.Glu1816Gly, XP_016884699.1:p.Glu1816Gly, XP_016884703.1:p.Glu1776Gly, XP_011529539.1:p.Glu451Gly, XP_047297715.1:p.Glu1816Gly, XP_047297716.1:p.Glu1768Gly, XP_047297717.1:p.Glu567Gly, XP_047297718.1:p.Glu534Gly

                        12.

                        rs1483884869 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:124422363 (GRCh38)
                          X:123556213 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:124422362:C:T
                          Gene:
                          TENM1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                          HGVS:
                          NC_000023.11:g.124422363C>T, NC_000023.10:g.123556213C>T, NG_013249.2:g.786949G>A, NG_013249.1:g.546454G>A, NM_014253.3:c.4359G>A, NM_001163278.2:c.4380G>A, NM_001163278.1:c.4380G>A, NM_001163279.1:c.4377G>A, NG_033796.2:g.466804C>T, XM_011531236.4:c.2085G>A, XM_011531236.3:c.2085G>A, XM_011531236.2:c.2085G>A, XM_011531236.1:c.495G>A, XM_017029209.3:c.4479G>A, XM_017029209.2:c.4479G>A, XM_017029209.1:c.4479G>A, XM_017029211.3:c.4479G>A, XM_017029211.2:c.4479G>A, XM_017029211.1:c.4479G>A, XM_017029208.3:c.4479G>A, XM_017029208.2:c.4479G>A, XM_017029208.1:c.4479G>A, XM_017029213.3:c.4479G>A, XM_017029213.2:c.4479G>A, XM_017029213.1:c.4479G>A, XM_017029210.3:c.4479G>A, XM_017029210.2:c.4479G>A, XM_017029210.1:c.4479G>A, XM_017029214.3:c.4359G>A, XM_017029214.2:c.4359G>A, XM_017029214.1:c.4359G>A, XM_011531237.3:c.384G>A, XM_011531237.2:c.384G>A, XM_011531237.1:c.384G>A, XM_047441759.1:c.4479G>A, XM_047441760.1:c.4335G>A, XM_047441761.1:c.732G>A, XM_047441762.1:c.633G>A

                          13.

                          rs1483578327 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:124646739 (GRCh38)
                            X:123780589 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:124646738:G:A
                            Gene:
                            TENM1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.124646739G>A, NC_000023.10:g.123780589G>A, NG_013249.2:g.562573C>T, NG_013249.1:g.322078C>T, NM_014253.3:c.1651C>T, NM_001163278.2:c.1651C>T, NM_001163278.1:c.1651C>T, NM_001163279.1:c.1648C>T, XM_017029209.3:c.1651C>T, XM_017029209.2:c.1651C>T, XM_017029209.1:c.1651C>T, XM_017029211.3:c.1651C>T, XM_017029211.2:c.1651C>T, XM_017029211.1:c.1651C>T, XM_017029208.3:c.1651C>T, XM_017029208.2:c.1651C>T, XM_017029208.1:c.1651C>T, XM_017029213.3:c.1651C>T, XM_017029213.2:c.1651C>T, XM_017029213.1:c.1651C>T, XM_017029210.3:c.1651C>T, XM_017029210.2:c.1651C>T, XM_017029210.1:c.1651C>T, XM_017029214.3:c.1651C>T, XM_017029214.2:c.1651C>T, XM_017029214.1:c.1651C>T, XM_017029215.3:c.1651C>T, XM_017029215.2:c.1651C>T, XM_017029215.1:c.1651C>T, XM_017029216.3:c.1651C>T, XM_017029216.2:c.1651C>T, XM_017029216.1:c.1651C>T, XM_047441759.1:c.1651C>T, XM_047441760.1:c.1651C>T, NP_055068.2:p.Pro551Ser, NP_001156750.1:p.Pro551Ser, NP_001156751.1:p.Pro550Ser, XP_016884698.1:p.Pro551Ser, XP_016884700.1:p.Pro551Ser, XP_016884697.1:p.Pro551Ser, XP_016884702.1:p.Pro551Ser, XP_016884699.1:p.Pro551Ser, XP_016884703.1:p.Pro551Ser, XP_016884704.1:p.Pro551Ser, XP_016884705.1:p.Pro551Ser, XP_047297715.1:p.Pro551Ser, XP_047297716.1:p.Pro551Ser

                            14.

                            rs1483461766 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              X:124653676 (GRCh38)
                              X:123787526 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:124653675:G:T
                              Gene:
                              TENM1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.0001/1 (ALFA)
                              HGVS:
                              NC_000023.11:g.124653676G>T, NC_000023.10:g.123787526G>T, NG_013249.2:g.555636C>A, NG_013249.1:g.315141C>A, NM_014253.3:c.1276C>A, NM_001163278.2:c.1276C>A, NM_001163278.1:c.1276C>A, NM_001163279.1:c.1273C>A, XM_017029209.3:c.1276C>A, XM_017029209.2:c.1276C>A, XM_017029209.1:c.1276C>A, XM_017029211.3:c.1276C>A, XM_017029211.2:c.1276C>A, XM_017029211.1:c.1276C>A, XM_017029208.3:c.1276C>A, XM_017029208.2:c.1276C>A, XM_017029208.1:c.1276C>A, XM_017029213.3:c.1276C>A, XM_017029213.2:c.1276C>A, XM_017029213.1:c.1276C>A, XM_017029210.3:c.1276C>A, XM_017029210.2:c.1276C>A, XM_017029210.1:c.1276C>A, XM_017029214.3:c.1276C>A, XM_017029214.2:c.1276C>A, XM_017029214.1:c.1276C>A, XM_017029215.3:c.1276C>A, XM_017029215.2:c.1276C>A, XM_017029215.1:c.1276C>A, XM_017029216.3:c.1276C>A, XM_017029216.2:c.1276C>A, XM_017029216.1:c.1276C>A, XM_047441759.1:c.1276C>A, XM_047441760.1:c.1276C>A, NP_055068.2:p.His426Asn, NP_001156750.1:p.His426Asn, NP_001156751.1:p.His425Asn, XP_016884698.1:p.His426Asn, XP_016884700.1:p.His426Asn, XP_016884697.1:p.His426Asn, XP_016884702.1:p.His426Asn, XP_016884699.1:p.His426Asn, XP_016884703.1:p.His426Asn, XP_016884704.1:p.His426Asn, XP_016884705.1:p.His426Asn, XP_047297715.1:p.His426Asn, XP_047297716.1:p.His426Asn

                              15.

                              rs1481614188 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                X:124383670 (GRCh38)
                                X:123517520 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:124383669:C:G
                                Gene:
                                TENM1 (Varview), LOC105373331 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.00001/1 (GnomAD)
                                HGVS:
                                NC_000023.11:g.124383670C>G, NC_000023.10:g.123517520C>G, NG_013249.2:g.825642G>C, NG_013249.1:g.585147G>C, NM_014253.3:c.7240G>C, NM_001163278.2:c.7261G>C, NM_001163278.1:c.7261G>C, NM_001163279.1:c.7258G>C, NG_033796.2:g.428111C>G, XM_011531236.4:c.4966G>C, XM_011531236.3:c.4966G>C, XM_011531236.2:c.4966G>C, XM_011531236.1:c.3376G>C, XM_017029209.3:c.7360G>C, XM_017029209.2:c.7360G>C, XM_017029209.1:c.7360G>C, XM_017029211.3:c.7360G>C, XM_017029211.2:c.7360G>C, XM_017029211.1:c.7360G>C, XM_017029208.3:c.7360G>C, XM_017029208.2:c.7360G>C, XM_017029208.1:c.7360G>C, XM_017029213.3:c.7360G>C, XM_017029213.2:c.7360G>C, XM_017029213.1:c.7360G>C, XM_017029210.3:c.7360G>C, XM_017029210.2:c.7360G>C, XM_017029210.1:c.7360G>C, XM_017029214.3:c.7240G>C, XM_017029214.2:c.7240G>C, XM_017029214.1:c.7240G>C, XM_011531237.3:c.3265G>C, XM_011531237.2:c.3265G>C, XM_011531237.1:c.3265G>C, XM_047441759.1:c.7360G>C, XM_047441760.1:c.7216G>C, XM_047441761.1:c.3613G>C, XM_047441762.1:c.3514G>C, NP_055068.2:p.Val2414Leu, NP_001156750.1:p.Val2421Leu, NP_001156751.1:p.Val2420Leu, XP_011529538.2:p.Val1656Leu, XP_016884698.1:p.Val2454Leu, XP_016884700.1:p.Val2454Leu, XP_016884697.1:p.Val2454Leu, XP_016884702.1:p.Val2454Leu, XP_016884699.1:p.Val2454Leu, XP_016884703.1:p.Val2414Leu, XP_011529539.1:p.Val1089Leu, XP_047297715.1:p.Val2454Leu, XP_047297716.1:p.Val2406Leu, XP_047297717.1:p.Val1205Leu, XP_047297718.1:p.Val1172Leu

                                16.

                                rs1481502627 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  X:124653718 (GRCh38)
                                  X:123787568 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:124653717:T:G
                                  Gene:
                                  TENM1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.00001/1 (GnomAD)
                                  HGVS:
                                  NC_000023.11:g.124653718T>G, NC_000023.10:g.123787568T>G, NG_013249.2:g.555594A>C, NG_013249.1:g.315099A>C, NM_014253.3:c.1234A>C, NM_001163278.2:c.1234A>C, NM_001163278.1:c.1234A>C, NM_001163279.1:c.1231A>C, XM_017029209.3:c.1234A>C, XM_017029209.2:c.1234A>C, XM_017029209.1:c.1234A>C, XM_017029211.3:c.1234A>C, XM_017029211.2:c.1234A>C, XM_017029211.1:c.1234A>C, XM_017029208.3:c.1234A>C, XM_017029208.2:c.1234A>C, XM_017029208.1:c.1234A>C, XM_017029213.3:c.1234A>C, XM_017029213.2:c.1234A>C, XM_017029213.1:c.1234A>C, XM_017029210.3:c.1234A>C, XM_017029210.2:c.1234A>C, XM_017029210.1:c.1234A>C, XM_017029214.3:c.1234A>C, XM_017029214.2:c.1234A>C, XM_017029214.1:c.1234A>C, XM_017029215.3:c.1234A>C, XM_017029215.2:c.1234A>C, XM_017029215.1:c.1234A>C, XM_017029216.3:c.1234A>C, XM_017029216.2:c.1234A>C, XM_017029216.1:c.1234A>C, XM_047441759.1:c.1234A>C, XM_047441760.1:c.1234A>C, NP_055068.2:p.Ile412Leu, NP_001156750.1:p.Ile412Leu, NP_001156751.1:p.Ile411Leu, XP_016884698.1:p.Ile412Leu, XP_016884700.1:p.Ile412Leu, XP_016884697.1:p.Ile412Leu, XP_016884702.1:p.Ile412Leu, XP_016884699.1:p.Ile412Leu, XP_016884703.1:p.Ile412Leu, XP_016884704.1:p.Ile412Leu, XP_016884705.1:p.Ile412Leu, XP_047297715.1:p.Ile412Leu, XP_047297716.1:p.Ile412Leu

                                  17.

                                  rs1481281334 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:124497192 (GRCh38)
                                    X:123631042 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:124497191:A:G
                                    Gene:
                                    TENM1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000023.11:g.124497192A>G, NC_000023.10:g.123631042A>G, NG_013249.2:g.712120T>C, NG_013249.1:g.471625T>C, NM_014253.3:c.3519T>C, NM_001163278.2:c.3519T>C, NM_001163278.1:c.3519T>C, NM_001163279.1:c.3516T>C, XM_011531236.4:c.1125T>C, XM_011531236.3:c.1125T>C, XM_011531236.2:c.1125T>C, XM_017029209.3:c.3519T>C, XM_017029209.2:c.3519T>C, XM_017029209.1:c.3519T>C, XM_017029211.3:c.3519T>C, XM_017029211.2:c.3519T>C, XM_017029211.1:c.3519T>C, XM_017029208.3:c.3519T>C, XM_017029208.2:c.3519T>C, XM_017029208.1:c.3519T>C, XM_017029213.3:c.3519T>C, XM_017029213.2:c.3519T>C, XM_017029213.1:c.3519T>C, XM_017029210.3:c.3519T>C, XM_017029210.2:c.3519T>C, XM_017029210.1:c.3519T>C, XM_017029214.3:c.3519T>C, XM_017029214.2:c.3519T>C, XM_017029214.1:c.3519T>C, XM_017029215.3:c.3519T>C, XM_017029215.2:c.3519T>C, XM_017029215.1:c.3519T>C, XM_017029216.3:c.3519T>C, XM_017029216.2:c.3519T>C, XM_017029216.1:c.3519T>C, XM_047441759.1:c.3519T>C, XM_047441760.1:c.3495T>C

                                    18.

                                    rs1480981067 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->AAAA [Show Flanks]
                                      Chromosome:
                                      X:124520778 (GRCh38)
                                      X:123654629 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:124520778::AAAA
                                      Gene:
                                      TENM1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
                                      HGVS:
                                      NC_000023.11:g.124520778_124520779insAAAA, NC_000023.10:g.123654628_123654629insAAAA, NG_013249.2:g.688533_688534insTTTT, NG_013249.1:g.448038_448039insTTTT, NM_014253.3:c.3039_3040insTTTT, NM_001163278.2:c.3039_3040insTTTT, NM_001163278.1:c.3039_3040insTTTT, NM_001163279.1:c.3036_3037insTTTT, XM_011531236.4:c.645_646insTTTT, XM_011531236.3:c.645_646insTTTT, XM_011531236.2:c.645_646insTTTT, XM_017029209.3:c.3039_3040insTTTT, XM_017029209.2:c.3039_3040insTTTT, XM_017029209.1:c.3039_3040insTTTT, XM_017029211.3:c.3039_3040insTTTT, XM_017029211.2:c.3039_3040insTTTT, XM_017029211.1:c.3039_3040insTTTT, XM_017029208.3:c.3039_3040insTTTT, XM_017029208.2:c.3039_3040insTTTT, XM_017029208.1:c.3039_3040insTTTT, XM_017029213.3:c.3039_3040insTTTT, XM_017029213.2:c.3039_3040insTTTT, XM_017029213.1:c.3039_3040insTTTT, XM_017029210.3:c.3039_3040insTTTT, XM_017029210.2:c.3039_3040insTTTT, XM_017029210.1:c.3039_3040insTTTT, XM_017029214.3:c.3039_3040insTTTT, XM_017029214.2:c.3039_3040insTTTT, XM_017029214.1:c.3039_3040insTTTT, XM_017029215.3:c.3039_3040insTTTT, XM_017029215.2:c.3039_3040insTTTT, XM_017029215.1:c.3039_3040insTTTT, XM_017029216.3:c.3039_3040insTTTT, XM_017029216.2:c.3039_3040insTTTT, XM_017029216.1:c.3039_3040insTTTT, XM_047441759.1:c.3039_3040insTTTT, XM_047441760.1:c.3015_3016insTTTT, NP_055068.2:p.Gln1014fs, NP_001156750.1:p.Gln1014fs, NP_001156751.1:p.Gln1013fs, XP_011529538.2:p.Gln216fs, XP_016884698.1:p.Gln1014fs, XP_016884700.1:p.Gln1014fs, XP_016884697.1:p.Gln1014fs, XP_016884702.1:p.Gln1014fs, XP_016884699.1:p.Gln1014fs, XP_016884703.1:p.Gln1014fs, XP_016884704.1:p.Gln1014fs, XP_016884705.1:p.Gln1014fs, XP_047297715.1:p.Gln1014fs, XP_047297716.1:p.Gln1006fs

                                      19.

                                      rs1480372034 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        X:124561747 (GRCh38)
                                        X:123695597 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:124561746:A:G
                                        Gene:
                                        TENM1 (Varview)
                                        Functional Consequence:
                                        synonymous_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=0.000005/1 (GnomAD_exomes)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000023.11:g.124561747A>G, NC_000023.10:g.123695597A>G, NG_013249.2:g.647565T>C, NG_013249.1:g.407070T>C, NM_014253.3:c.2358T>C, NM_001163278.2:c.2358T>C, NM_001163278.1:c.2358T>C, NM_001163279.1:c.2355T>C, XM_011531236.4:c.-37T>C, XM_011531236.3:c.-37T>C, XM_011531236.2:c.-37T>C, XM_017029209.3:c.2358T>C, XM_017029209.2:c.2358T>C, XM_017029209.1:c.2358T>C, XM_017029211.3:c.2358T>C, XM_017029211.2:c.2358T>C, XM_017029211.1:c.2358T>C, XM_017029208.3:c.2358T>C, XM_017029208.2:c.2358T>C, XM_017029208.1:c.2358T>C, XM_017029213.3:c.2358T>C, XM_017029213.2:c.2358T>C, XM_017029213.1:c.2358T>C, XM_017029210.3:c.2358T>C, XM_017029210.2:c.2358T>C, XM_017029210.1:c.2358T>C, XM_017029214.3:c.2358T>C, XM_017029214.2:c.2358T>C, XM_017029214.1:c.2358T>C, XM_017029215.3:c.2358T>C, XM_017029215.2:c.2358T>C, XM_017029215.1:c.2358T>C, XM_017029216.3:c.2358T>C, XM_017029216.2:c.2358T>C, XM_017029216.1:c.2358T>C, XM_047441759.1:c.2358T>C, XM_047441760.1:c.2334T>C

                                        20.

                                        rs1480315080 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:124645219 (GRCh38)
                                          X:123779069 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:124645218:T:C
                                          Gene:
                                          TENM1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.00001/1 (GnomAD)
                                          HGVS:
                                          NC_000023.11:g.124645219T>C, NC_000023.10:g.123779069T>C, NG_013249.2:g.564093A>G, NG_013249.1:g.323598A>G, NM_014253.3:c.1800A>G, NM_001163278.2:c.1800A>G, NM_001163278.1:c.1800A>G, NM_001163279.1:c.1797A>G, XM_017029209.3:c.1800A>G, XM_017029209.2:c.1800A>G, XM_017029209.1:c.1800A>G, XM_017029211.3:c.1800A>G, XM_017029211.2:c.1800A>G, XM_017029211.1:c.1800A>G, XM_017029208.3:c.1800A>G, XM_017029208.2:c.1800A>G, XM_017029208.1:c.1800A>G, XM_017029213.3:c.1800A>G, XM_017029213.2:c.1800A>G, XM_017029213.1:c.1800A>G, XM_017029210.3:c.1800A>G, XM_017029210.2:c.1800A>G, XM_017029210.1:c.1800A>G, XM_017029214.3:c.1800A>G, XM_017029214.2:c.1800A>G, XM_017029214.1:c.1800A>G, XM_017029215.3:c.1800A>G, XM_017029215.2:c.1800A>G, XM_017029215.1:c.1800A>G, XM_017029216.3:c.1800A>G, XM_017029216.2:c.1800A>G, XM_017029216.1:c.1800A>G, XM_047441759.1:c.1800A>G, XM_047441760.1:c.1800A>G

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