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Links from Protein

Items: 1 to 20 of 258

1.

rs1481875950 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    13:30952780 (GRCh38)
    13:31526917 (GRCh37)
    Canonical SPDI:
    NC_000013.11:30952779:TG:
    Gene:
    TEX26 (Varview)
    Functional Consequence:
    frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (GnomAD_exomes)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    NC_000013.11:g.30952780_30952781del, NC_000013.10:g.31526917_31526918del, XM_011534919.4:c.264_265del, XM_011534919.3:c.264_265del, XM_011534919.2:c.264_265del, XM_011534919.1:c.264_265del, XM_011534925.4:c.267_268del, XM_011534925.3:c.267_268del, XM_011534925.2:c.267_268del, XM_011534925.1:c.267_268del, XM_011534926.4:c.267_268del, XM_011534926.3:c.267_268del, XM_011534926.2:c.267_268del, XM_011534926.1:c.267_268del, XR_941493.4:n.327_328del, XR_941493.3:n.290_291del, XR_941493.2:n.350_351del, XR_941493.1:n.290_291del, XM_011534924.4:c.267_268del, XM_011534924.3:c.267_268del, XM_011534924.2:c.267_268del, XM_011534924.1:c.267_268del, XM_011534921.4:c.267_268del, XM_011534921.3:c.267_268del, XM_011534921.2:c.267_268del, XM_011534921.1:c.267_268del, XM_011534927.4:c.267_268del, XM_011534927.3:c.267_268del, XM_011534927.2:c.267_268del, XM_011534927.1:c.267_268del, XR_001749479.3:n.327_328del, XR_001749479.2:n.290_291del, XR_001749479.1:n.350_351del, NM_152325.3:c.267_268del, NM_152325.2:c.267_268del, NM_152325.1:c.267_268del, NM_001353388.2:c.-405_-404del, NM_001353388.1:c.-405_-404del, NM_001353389.2:c.-127_-126del, NM_001353389.1:c.-127_-126del, NR_148425.2:n.242_243del, NR_148425.1:n.201_202del, XM_047430094.1:c.171_172del, XP_011533221.1:p.Glu89fs, XP_011533227.1:p.Glu90fs, XP_011533228.1:p.Glu90fs, XP_011533226.1:p.Glu90fs, XP_011533223.1:p.Glu90fs, XP_011533229.1:p.Glu90fs, NP_689538.1:p.Glu90fs, XP_047286050.1:p.Glu58fs

    2.

    rs1474914867 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      13:30966241 (GRCh38)
      13:31540378 (GRCh37)
      Canonical SPDI:
      NC_000013.11:30966240:T:C,NC_000013.11:30966240:T:G
      Gene:
      TEX26 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000013.11:g.30966241T>C, NC_000013.11:g.30966241T>G, NC_000013.10:g.31540378T>C, NC_000013.10:g.31540378T>G, XM_011534919.4:c.486T>C, XM_011534919.4:c.486T>G, XM_011534919.3:c.486T>C, XM_011534919.3:c.486T>G, XM_011534919.2:c.486T>C, XM_011534919.2:c.486T>G, XM_011534919.1:c.486T>C, XM_011534919.1:c.486T>G, XM_011534925.4:c.489T>C, XM_011534925.4:c.489T>G, XM_011534925.3:c.489T>C, XM_011534925.3:c.489T>G, XM_011534925.2:c.489T>C, XM_011534925.2:c.489T>G, XM_011534925.1:c.489T>C, XM_011534925.1:c.489T>G, XR_941493.4:n.549T>C, XR_941493.4:n.549T>G, XR_941493.3:n.512T>C, XR_941493.3:n.512T>G, XR_941493.2:n.572T>C, XR_941493.2:n.572T>G, XR_941493.1:n.512T>C, XR_941493.1:n.512T>G, XM_011534924.4:c.489T>C, XM_011534924.4:c.489T>G, XM_011534924.3:c.489T>C, XM_011534924.3:c.489T>G, XM_011534924.2:c.489T>C, XM_011534924.2:c.489T>G, XM_011534924.1:c.489T>C, XM_011534924.1:c.489T>G, XM_011534921.4:c.489T>C, XM_011534921.4:c.489T>G, XM_011534921.3:c.489T>C, XM_011534921.3:c.489T>G, XM_011534921.2:c.489T>C, XM_011534921.2:c.489T>G, XM_011534921.1:c.489T>C, XM_011534921.1:c.489T>G, XR_001749479.3:n.549T>C, XR_001749479.3:n.549T>G, XR_001749479.2:n.512T>C, XR_001749479.2:n.512T>G, XR_001749479.1:n.572T>C, XR_001749479.1:n.572T>G, NM_152325.3:c.489T>C, NM_152325.3:c.489T>G, NM_152325.2:c.489T>C, NM_152325.2:c.489T>G, NM_152325.1:c.489T>C, NM_152325.1:c.489T>G, NM_001353388.2:c.96T>C, NM_001353388.2:c.96T>G, NM_001353388.1:c.96T>C, NM_001353388.1:c.96T>G, NM_001353389.2:c.96T>C, NM_001353389.2:c.96T>G, NM_001353389.1:c.96T>C, NM_001353389.1:c.96T>G, NM_001353391.2:c.96T>C, NM_001353391.2:c.96T>G, NM_001353391.1:c.96T>C, NM_001353391.1:c.96T>G, NM_001353390.2:c.96T>C, NM_001353390.2:c.96T>G, NM_001353390.1:c.96T>C, NM_001353390.1:c.96T>G, XM_047430094.1:c.393T>C, XM_047430094.1:c.393T>G, XP_011533221.1:p.Ser162Arg, XP_011533227.1:p.Ser163Arg, XP_011533226.1:p.Ser163Arg, XP_011533223.1:p.Ser163Arg, NP_689538.1:p.Ser163Arg, NP_001340317.1:p.Ser32Arg, NP_001340318.1:p.Ser32Arg, NP_001340320.1:p.Ser32Arg, NP_001340319.1:p.Ser32Arg, XP_047286050.1:p.Ser131Arg

      3.

      rs1471496876 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        13:30932748 (GRCh38)
        13:31506885 (GRCh37)
        Canonical SPDI:
        NC_000013.11:30932747:C:G
        Gene:
        TEX26 (Varview), TEX26-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        G=0.000012/3 (GnomAD_exomes)
        G=0.000342/1 (KOREAN)
        G=0.000354/6 (TOMMO)
        HGVS:
        NC_000013.11:g.30932748C>G, NC_000013.10:g.31506885C>G, XM_011534919.4:c.33C>G, XM_011534919.3:c.33C>G, XM_011534919.2:c.33C>G, XM_011534919.1:c.33C>G, XM_011534925.4:c.33C>G, XM_011534925.3:c.33C>G, XM_011534925.2:c.33C>G, XM_011534925.1:c.33C>G, XM_011534926.4:c.33C>G, XM_011534926.3:c.33C>G, XM_011534926.2:c.33C>G, XM_011534926.1:c.33C>G, XR_941493.4:n.93C>G, XR_941493.3:n.56C>G, XR_941493.2:n.116C>G, XR_941493.1:n.56C>G, XM_011534924.4:c.33C>G, XM_011534924.3:c.33C>G, XM_011534924.2:c.33C>G, XM_011534924.1:c.33C>G, XM_011534921.4:c.33C>G, XM_011534921.3:c.33C>G, XM_011534921.2:c.33C>G, XM_011534921.1:c.33C>G, XM_011534927.4:c.33C>G, XM_011534927.3:c.33C>G, XM_011534927.2:c.33C>G, XM_011534927.1:c.33C>G, XR_001749479.3:n.93C>G, XR_001749479.2:n.56C>G, XR_001749479.1:n.116C>G, NM_152325.3:c.33C>G, NM_152325.2:c.33C>G, NM_152325.1:c.33C>G, NM_001353388.2:c.-554C>G, NM_001353388.1:c.-554C>G, NM_001353389.2:c.-276C>G, NM_001353389.1:c.-276C>G, NM_001353391.2:c.-195C>G, NM_001353391.1:c.-195C>G, NM_001353390.2:c.-110C>G, NM_001353390.1:c.-110C>G, NR_148425.2:n.93C>G, NR_148425.1:n.52C>G, XM_047430094.1:c.-197C>G

        4.

        rs1470965534 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          13:30939722 (GRCh38)
          13:31513859 (GRCh37)
          Canonical SPDI:
          NC_000013.11:30939721:T:C
          Gene:
          TEX26 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000013.11:g.30939722T>C, NC_000013.10:g.31513859T>C, XM_011534919.4:c.87T>C, XM_011534919.3:c.87T>C, XM_011534919.2:c.87T>C, XM_011534919.1:c.87T>C, XM_011534925.4:c.90T>C, XM_011534925.3:c.90T>C, XM_011534925.2:c.90T>C, XM_011534925.1:c.90T>C, XM_011534926.4:c.90T>C, XM_011534926.3:c.90T>C, XM_011534926.2:c.90T>C, XM_011534926.1:c.90T>C, XR_941493.4:n.150T>C, XR_941493.3:n.113T>C, XR_941493.2:n.173T>C, XR_941493.1:n.113T>C, XM_011534924.4:c.90T>C, XM_011534924.3:c.90T>C, XM_011534924.2:c.90T>C, XM_011534924.1:c.90T>C, XM_011534921.4:c.90T>C, XM_011534921.3:c.90T>C, XM_011534921.2:c.90T>C, XM_011534921.1:c.90T>C, XM_011534927.4:c.90T>C, XM_011534927.3:c.90T>C, XM_011534927.2:c.90T>C, XM_011534927.1:c.90T>C, XR_001749479.3:n.150T>C, XR_001749479.2:n.113T>C, XR_001749479.1:n.173T>C, NM_152325.3:c.90T>C, NM_152325.2:c.90T>C, NM_152325.1:c.90T>C, NM_001353391.2:c.-138T>C, NM_001353391.1:c.-138T>C, XM_047430094.1:c.-7T>C

          5.

          rs1465722424 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            13:30966273 (GRCh38)
            13:31540410 (GRCh37)
            Canonical SPDI:
            NC_000013.11:30966272:T:G
            Gene:
            TEX26 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000224/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000223/1 (Estonian)
            HGVS:
            NC_000013.11:g.30966273T>G, NC_000013.10:g.31540410T>G, XM_011534919.4:c.518T>G, XM_011534919.3:c.518T>G, XM_011534919.2:c.518T>G, XM_011534919.1:c.518T>G, XM_011534925.4:c.521T>G, XM_011534925.3:c.521T>G, XM_011534925.2:c.521T>G, XM_011534925.1:c.521T>G, XR_941493.4:n.581T>G, XR_941493.3:n.544T>G, XR_941493.2:n.604T>G, XR_941493.1:n.544T>G, XM_011534924.4:c.521T>G, XM_011534924.3:c.521T>G, XM_011534924.2:c.521T>G, XM_011534924.1:c.521T>G, XM_011534921.4:c.521T>G, XM_011534921.3:c.521T>G, XM_011534921.2:c.521T>G, XM_011534921.1:c.521T>G, XR_001749479.3:n.581T>G, XR_001749479.2:n.544T>G, XR_001749479.1:n.604T>G, NM_152325.3:c.521T>G, NM_152325.2:c.521T>G, NM_152325.1:c.521T>G, NM_001353388.2:c.128T>G, NM_001353388.1:c.128T>G, NM_001353389.2:c.128T>G, NM_001353389.1:c.128T>G, NM_001353391.2:c.128T>G, NM_001353391.1:c.128T>G, NM_001353390.2:c.128T>G, NM_001353390.1:c.128T>G, XM_047430094.1:c.425T>G, XP_011533221.1:p.Leu173Arg, XP_011533227.1:p.Leu174Arg, XP_011533226.1:p.Leu174Arg, XP_011533223.1:p.Leu174Arg, NP_689538.1:p.Leu174Arg, NP_001340317.1:p.Leu43Arg, NP_001340318.1:p.Leu43Arg, NP_001340320.1:p.Leu43Arg, NP_001340319.1:p.Leu43Arg, XP_047286050.1:p.Leu142Arg

            6.

            rs1445648704 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              13:30939757 (GRCh38)
              13:31513894 (GRCh37)
              Canonical SPDI:
              NC_000013.11:30939756:G:A
              Gene:
              TEX26 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.00034/1 (KOREAN)
              A=0.00055/1 (Korea1K)
              HGVS:
              NC_000013.11:g.30939757G>A, NC_000013.10:g.31513894G>A, XM_011534919.4:c.122G>A, XM_011534919.3:c.122G>A, XM_011534919.2:c.122G>A, XM_011534919.1:c.122G>A, XM_011534925.4:c.125G>A, XM_011534925.3:c.125G>A, XM_011534925.2:c.125G>A, XM_011534925.1:c.125G>A, XM_011534926.4:c.125G>A, XM_011534926.3:c.125G>A, XM_011534926.2:c.125G>A, XM_011534926.1:c.125G>A, XR_941493.4:n.185G>A, XR_941493.3:n.148G>A, XR_941493.2:n.208G>A, XR_941493.1:n.148G>A, XM_011534924.4:c.125G>A, XM_011534924.3:c.125G>A, XM_011534924.2:c.125G>A, XM_011534924.1:c.125G>A, XM_011534921.4:c.125G>A, XM_011534921.3:c.125G>A, XM_011534921.2:c.125G>A, XM_011534921.1:c.125G>A, XM_011534927.4:c.125G>A, XM_011534927.3:c.125G>A, XM_011534927.2:c.125G>A, XM_011534927.1:c.125G>A, XR_001749479.3:n.185G>A, XR_001749479.2:n.148G>A, XR_001749479.1:n.208G>A, NM_152325.3:c.125G>A, NM_152325.2:c.125G>A, NM_152325.1:c.125G>A, NM_001353391.2:c.-103G>A, NM_001353391.1:c.-103G>A, XM_047430094.1:c.29G>A, XP_011533221.1:p.Gly41Glu, XP_011533227.1:p.Gly42Glu, XP_011533228.1:p.Gly42Glu, XP_011533226.1:p.Gly42Glu, XP_011533223.1:p.Gly42Glu, XP_011533229.1:p.Gly42Glu, NP_689538.1:p.Gly42Glu, XP_047286050.1:p.Gly10Glu

              7.

              rs1445403519 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                13:30952807 (GRCh38)
                13:31526944 (GRCh37)
                Canonical SPDI:
                NC_000013.11:30952806:C:A,NC_000013.11:30952806:C:T
                Gene:
                TEX26 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000011/3 (TOPMED)
                HGVS:
                NC_000013.11:g.30952807C>A, NC_000013.11:g.30952807C>T, NC_000013.10:g.31526944C>A, NC_000013.10:g.31526944C>T, XM_011534919.4:c.291C>A, XM_011534919.4:c.291C>T, XM_011534919.3:c.291C>A, XM_011534919.3:c.291C>T, XM_011534919.2:c.291C>A, XM_011534919.2:c.291C>T, XM_011534919.1:c.291C>A, XM_011534919.1:c.291C>T, XM_011534925.4:c.294C>A, XM_011534925.4:c.294C>T, XM_011534925.3:c.294C>A, XM_011534925.3:c.294C>T, XM_011534925.2:c.294C>A, XM_011534925.2:c.294C>T, XM_011534925.1:c.294C>A, XM_011534925.1:c.294C>T, XM_011534926.4:c.294C>A, XM_011534926.4:c.294C>T, XM_011534926.3:c.294C>A, XM_011534926.3:c.294C>T, XM_011534926.2:c.294C>A, XM_011534926.2:c.294C>T, XM_011534926.1:c.294C>A, XM_011534926.1:c.294C>T, XR_941493.4:n.354C>A, XR_941493.4:n.354C>T, XR_941493.3:n.317C>A, XR_941493.3:n.317C>T, XR_941493.2:n.377C>A, XR_941493.2:n.377C>T, XR_941493.1:n.317C>A, XR_941493.1:n.317C>T, XM_011534924.4:c.294C>A, XM_011534924.4:c.294C>T, XM_011534924.3:c.294C>A, XM_011534924.3:c.294C>T, XM_011534924.2:c.294C>A, XM_011534924.2:c.294C>T, XM_011534924.1:c.294C>A, XM_011534924.1:c.294C>T, XM_011534921.4:c.294C>A, XM_011534921.4:c.294C>T, XM_011534921.3:c.294C>A, XM_011534921.3:c.294C>T, XM_011534921.2:c.294C>A, XM_011534921.2:c.294C>T, XM_011534921.1:c.294C>A, XM_011534921.1:c.294C>T, XM_011534927.4:c.294C>A, XM_011534927.4:c.294C>T, XM_011534927.3:c.294C>A, XM_011534927.3:c.294C>T, XM_011534927.2:c.294C>A, XM_011534927.2:c.294C>T, XM_011534927.1:c.294C>A, XM_011534927.1:c.294C>T, XR_001749479.3:n.354C>A, XR_001749479.3:n.354C>T, XR_001749479.2:n.317C>A, XR_001749479.2:n.317C>T, XR_001749479.1:n.377C>A, XR_001749479.1:n.377C>T, NM_152325.3:c.294C>A, NM_152325.3:c.294C>T, NM_152325.2:c.294C>A, NM_152325.2:c.294C>T, NM_152325.1:c.294C>A, NM_152325.1:c.294C>T, NM_001353388.2:c.-378C>A, NM_001353388.2:c.-378C>T, NM_001353388.1:c.-378C>A, NM_001353388.1:c.-378C>T, NM_001353389.2:c.-100C>A, NM_001353389.2:c.-100C>T, NM_001353389.1:c.-100C>A, NM_001353389.1:c.-100C>T, NR_148425.2:n.269C>A, NR_148425.2:n.269C>T, NR_148425.1:n.228C>A, NR_148425.1:n.228C>T, XM_047430094.1:c.198C>A, XM_047430094.1:c.198C>T, XP_011533221.1:p.His97Gln, XP_011533227.1:p.His98Gln, XP_011533228.1:p.His98Gln, XP_011533226.1:p.His98Gln, XP_011533223.1:p.His98Gln, XP_011533229.1:p.His98Gln, NP_689538.1:p.His98Gln, XP_047286050.1:p.His66Gln

                8.

                rs1442285499 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  13:30956944 (GRCh38)
                  13:31531081 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:30956943:C:A
                  Gene:
                  TEX26 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000013.11:g.30956944C>A, NC_000013.10:g.31531081C>A, XM_011534919.4:c.381C>A, XM_011534919.3:c.381C>A, XM_011534919.2:c.381C>A, XM_011534919.1:c.381C>A, XM_011534925.4:c.384C>A, XM_011534925.3:c.384C>A, XM_011534925.2:c.384C>A, XM_011534925.1:c.384C>A, XM_011534926.4:c.384C>A, XM_011534926.3:c.384C>A, XM_011534926.2:c.384C>A, XM_011534926.1:c.384C>A, XR_941493.4:n.444C>A, XR_941493.3:n.407C>A, XR_941493.2:n.467C>A, XR_941493.1:n.407C>A, XM_011534924.4:c.384C>A, XM_011534924.3:c.384C>A, XM_011534924.2:c.384C>A, XM_011534924.1:c.384C>A, XM_011534921.4:c.384C>A, XM_011534921.3:c.384C>A, XM_011534921.2:c.384C>A, XM_011534921.1:c.384C>A, XM_011534927.4:c.384C>A, XM_011534927.3:c.384C>A, XM_011534927.2:c.384C>A, XM_011534927.1:c.384C>A, XR_001749479.3:n.444C>A, XR_001749479.2:n.407C>A, XR_001749479.1:n.467C>A, NM_152325.3:c.384C>A, NM_152325.2:c.384C>A, NM_152325.1:c.384C>A, NM_001353388.2:c.-10C>A, NM_001353388.1:c.-10C>A, NM_001353389.2:c.-10C>A, NM_001353389.1:c.-10C>A, NM_001353391.2:c.-10C>A, NM_001353391.1:c.-10C>A, NM_001353390.2:c.-10C>A, NM_001353390.1:c.-10C>A, NR_148425.2:n.359C>A, NR_148425.1:n.318C>A, XM_047430094.1:c.288C>A

                  9.

                  rs1428442932 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:30939706 (GRCh38)
                    13:31513843 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:30939705:A:G
                    Gene:
                    TEX26 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000013.11:g.30939706A>G, NC_000013.10:g.31513843A>G, XM_011534919.4:c.71A>G, XM_011534919.3:c.71A>G, XM_011534919.2:c.71A>G, XM_011534919.1:c.71A>G, XM_011534925.4:c.74A>G, XM_011534925.3:c.74A>G, XM_011534925.2:c.74A>G, XM_011534925.1:c.74A>G, XM_011534926.4:c.74A>G, XM_011534926.3:c.74A>G, XM_011534926.2:c.74A>G, XM_011534926.1:c.74A>G, XR_941493.4:n.134A>G, XR_941493.3:n.97A>G, XR_941493.2:n.157A>G, XR_941493.1:n.97A>G, XM_011534924.4:c.74A>G, XM_011534924.3:c.74A>G, XM_011534924.2:c.74A>G, XM_011534924.1:c.74A>G, XM_011534921.4:c.74A>G, XM_011534921.3:c.74A>G, XM_011534921.2:c.74A>G, XM_011534921.1:c.74A>G, XM_011534927.4:c.74A>G, XM_011534927.3:c.74A>G, XM_011534927.2:c.74A>G, XM_011534927.1:c.74A>G, XR_001749479.3:n.134A>G, XR_001749479.2:n.97A>G, XR_001749479.1:n.157A>G, NM_152325.3:c.74A>G, NM_152325.2:c.74A>G, NM_152325.1:c.74A>G, NM_001353391.2:c.-154A>G, NM_001353391.1:c.-154A>G, XM_047430094.1:c.-23A>G, XP_011533221.1:p.Asn24Ser, XP_011533227.1:p.Asn25Ser, XP_011533228.1:p.Asn25Ser, XP_011533226.1:p.Asn25Ser, XP_011533223.1:p.Asn25Ser, XP_011533229.1:p.Asn25Ser, NP_689538.1:p.Asn25Ser

                    10.

                    rs1426554366 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      13:30966393 (GRCh38)
                      13:31540530 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:30966392:G:T
                      Gene:
                      TEX26 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000022/3 (GnomAD)
                      HGVS:
                      NC_000013.11:g.30966393G>T, NC_000013.10:g.31540530G>T, XM_011534919.4:c.638G>T, XM_011534919.3:c.638G>T, XM_011534919.2:c.638G>T, XM_011534919.1:c.638G>T, XM_011534925.4:c.641G>T, XM_011534925.3:c.641G>T, XM_011534925.2:c.641G>T, XM_011534925.1:c.641G>T, XR_941493.4:n.701G>T, XR_941493.3:n.664G>T, XR_941493.2:n.724G>T, XR_941493.1:n.664G>T, XM_011534924.4:c.641G>T, XM_011534924.3:c.641G>T, XM_011534924.2:c.641G>T, XM_011534924.1:c.641G>T, XM_011534921.4:c.641G>T, XM_011534921.3:c.641G>T, XM_011534921.2:c.641G>T, XM_011534921.1:c.641G>T, XR_001749479.3:n.701G>T, XR_001749479.2:n.664G>T, XR_001749479.1:n.724G>T, NM_152325.3:c.641G>T, NM_152325.2:c.641G>T, NM_152325.1:c.641G>T, NM_001353388.2:c.248G>T, NM_001353388.1:c.248G>T, NM_001353389.2:c.248G>T, NM_001353389.1:c.248G>T, NM_001353391.2:c.248G>T, NM_001353391.1:c.248G>T, NM_001353390.2:c.248G>T, NM_001353390.1:c.248G>T, XM_047430094.1:c.545G>T, XP_011533221.1:p.Gly213Val, XP_011533227.1:p.Gly214Val, XP_011533226.1:p.Gly214Val, XP_011533223.1:p.Gly214Val, NP_689538.1:p.Gly214Val, NP_001340317.1:p.Gly83Val, NP_001340318.1:p.Gly83Val, NP_001340320.1:p.Gly83Val, NP_001340319.1:p.Gly83Val, XP_047286050.1:p.Gly182Val

                      11.

                      rs1425843302 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:30932757 (GRCh38)
                        13:31506894 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:30932756:C:T
                        Gene:
                        TEX26 (Varview), TEX26-AS1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000031/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000013.11:g.30932757C>T, NC_000013.10:g.31506894C>T, XM_011534919.4:c.42C>T, XM_011534919.3:c.42C>T, XM_011534919.2:c.42C>T, XM_011534919.1:c.42C>T, XM_011534925.4:c.42C>T, XM_011534925.3:c.42C>T, XM_011534925.2:c.42C>T, XM_011534925.1:c.42C>T, XM_011534926.4:c.42C>T, XM_011534926.3:c.42C>T, XM_011534926.2:c.42C>T, XM_011534926.1:c.42C>T, XR_941493.4:n.102C>T, XR_941493.3:n.65C>T, XR_941493.2:n.125C>T, XR_941493.1:n.65C>T, XM_011534924.4:c.42C>T, XM_011534924.3:c.42C>T, XM_011534924.2:c.42C>T, XM_011534924.1:c.42C>T, XM_011534921.4:c.42C>T, XM_011534921.3:c.42C>T, XM_011534921.2:c.42C>T, XM_011534921.1:c.42C>T, XM_011534927.4:c.42C>T, XM_011534927.3:c.42C>T, XM_011534927.2:c.42C>T, XM_011534927.1:c.42C>T, XR_001749479.3:n.102C>T, XR_001749479.2:n.65C>T, XR_001749479.1:n.125C>T, NM_152325.3:c.42C>T, NM_152325.2:c.42C>T, NM_152325.1:c.42C>T, NM_001353388.2:c.-545C>T, NM_001353388.1:c.-545C>T, NM_001353389.2:c.-267C>T, NM_001353389.1:c.-267C>T, NM_001353391.2:c.-186C>T, NM_001353391.1:c.-186C>T, NM_001353390.2:c.-101C>T, NM_001353390.1:c.-101C>T, NR_148425.2:n.102C>T, NR_148425.1:n.61C>T, XM_047430094.1:c.-188C>T

                        12.

                        rs1423915344 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:30966396 (GRCh38)
                          13:31540533 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:30966395:T:C
                          Gene:
                          TEX26 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000047/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.30966396T>C, NC_000013.10:g.31540533T>C, XM_011534919.4:c.641T>C, XM_011534919.3:c.641T>C, XM_011534919.2:c.641T>C, XM_011534919.1:c.641T>C, XM_011534925.4:c.644T>C, XM_011534925.3:c.644T>C, XM_011534925.2:c.644T>C, XM_011534925.1:c.644T>C, XR_941493.4:n.704T>C, XR_941493.3:n.667T>C, XR_941493.2:n.727T>C, XR_941493.1:n.667T>C, XM_011534924.4:c.644T>C, XM_011534924.3:c.644T>C, XM_011534924.2:c.644T>C, XM_011534924.1:c.644T>C, XM_011534921.4:c.644T>C, XM_011534921.3:c.644T>C, XM_011534921.2:c.644T>C, XM_011534921.1:c.644T>C, XR_001749479.3:n.704T>C, XR_001749479.2:n.667T>C, XR_001749479.1:n.727T>C, NM_152325.3:c.644T>C, NM_152325.2:c.644T>C, NM_152325.1:c.644T>C, NM_001353388.2:c.251T>C, NM_001353388.1:c.251T>C, NM_001353389.2:c.251T>C, NM_001353389.1:c.251T>C, NM_001353391.2:c.251T>C, NM_001353391.1:c.251T>C, NM_001353390.2:c.251T>C, NM_001353390.1:c.251T>C, XM_047430094.1:c.548T>C, XP_011533221.1:p.Leu214Pro, XP_011533227.1:p.Leu215Pro, XP_011533226.1:p.Leu215Pro, XP_011533223.1:p.Leu215Pro, NP_689538.1:p.Leu215Pro, NP_001340317.1:p.Leu84Pro, NP_001340318.1:p.Leu84Pro, NP_001340320.1:p.Leu84Pro, NP_001340319.1:p.Leu84Pro, XP_047286050.1:p.Leu183Pro

                          13.

                          rs1422050574 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:30956887 (GRCh38)
                            13:31531024 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:30956886:G:A
                            Gene:
                            TEX26 (Varview)
                            Functional Consequence:
                            stop_gained,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.30956887G>A, NC_000013.10:g.31531024G>A, XM_011534919.4:c.324G>A, XM_011534919.3:c.324G>A, XM_011534919.2:c.324G>A, XM_011534919.1:c.324G>A, XM_011534925.4:c.327G>A, XM_011534925.3:c.327G>A, XM_011534925.2:c.327G>A, XM_011534925.1:c.327G>A, XM_011534926.4:c.327G>A, XM_011534926.3:c.327G>A, XM_011534926.2:c.327G>A, XM_011534926.1:c.327G>A, XR_941493.4:n.387G>A, XR_941493.3:n.350G>A, XR_941493.2:n.410G>A, XR_941493.1:n.350G>A, XM_011534924.4:c.327G>A, XM_011534924.3:c.327G>A, XM_011534924.2:c.327G>A, XM_011534924.1:c.327G>A, XM_011534921.4:c.327G>A, XM_011534921.3:c.327G>A, XM_011534921.2:c.327G>A, XM_011534921.1:c.327G>A, XM_011534927.4:c.327G>A, XM_011534927.3:c.327G>A, XM_011534927.2:c.327G>A, XM_011534927.1:c.327G>A, XR_001749479.3:n.387G>A, XR_001749479.2:n.350G>A, XR_001749479.1:n.410G>A, NM_152325.3:c.327G>A, NM_152325.2:c.327G>A, NM_152325.1:c.327G>A, NM_001353388.2:c.-67G>A, NM_001353388.1:c.-67G>A, NM_001353389.2:c.-67G>A, NM_001353389.1:c.-67G>A, NM_001353391.2:c.-67G>A, NM_001353391.1:c.-67G>A, NM_001353390.2:c.-67G>A, NM_001353390.1:c.-67G>A, NR_148425.2:n.302G>A, NR_148425.1:n.261G>A, XM_047430094.1:c.231G>A, XP_011533221.1:p.Trp108Ter, XP_011533227.1:p.Trp109Ter, XP_011533228.1:p.Trp109Ter, XP_011533226.1:p.Trp109Ter, XP_011533223.1:p.Trp109Ter, XP_011533229.1:p.Trp109Ter, NP_689538.1:p.Trp109Ter, XP_047286050.1:p.Trp77Ter

                            14.

                            rs1420219389 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              13:30966247 (GRCh38)
                              13:31540384 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:30966246:C:T
                              Gene:
                              TEX26 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_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:
                              NC_000013.11:g.30966247C>T, NC_000013.10:g.31540384C>T, XM_011534919.4:c.492C>T, XM_011534919.3:c.492C>T, XM_011534919.2:c.492C>T, XM_011534919.1:c.492C>T, XM_011534925.4:c.495C>T, XM_011534925.3:c.495C>T, XM_011534925.2:c.495C>T, XM_011534925.1:c.495C>T, XR_941493.4:n.555C>T, XR_941493.3:n.518C>T, XR_941493.2:n.578C>T, XR_941493.1:n.518C>T, XM_011534924.4:c.495C>T, XM_011534924.3:c.495C>T, XM_011534924.2:c.495C>T, XM_011534924.1:c.495C>T, XM_011534921.4:c.495C>T, XM_011534921.3:c.495C>T, XM_011534921.2:c.495C>T, XM_011534921.1:c.495C>T, XR_001749479.3:n.555C>T, XR_001749479.2:n.518C>T, XR_001749479.1:n.578C>T, NM_152325.3:c.495C>T, NM_152325.2:c.495C>T, NM_152325.1:c.495C>T, NM_001353388.2:c.102C>T, NM_001353388.1:c.102C>T, NM_001353389.2:c.102C>T, NM_001353389.1:c.102C>T, NM_001353391.2:c.102C>T, NM_001353391.1:c.102C>T, NM_001353390.2:c.102C>T, NM_001353390.1:c.102C>T, XM_047430094.1:c.399C>T

                              15.

                              rs1411081445 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                13:30956934 (GRCh38)
                                13:31531071 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:30956933:C:G
                                Gene:
                                TEX26 (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                NC_000013.11:g.30956934C>G, NC_000013.10:g.31531071C>G, XM_011534919.4:c.371C>G, XM_011534919.3:c.371C>G, XM_011534919.2:c.371C>G, XM_011534919.1:c.371C>G, XM_011534925.4:c.374C>G, XM_011534925.3:c.374C>G, XM_011534925.2:c.374C>G, XM_011534925.1:c.374C>G, XM_011534926.4:c.374C>G, XM_011534926.3:c.374C>G, XM_011534926.2:c.374C>G, XM_011534926.1:c.374C>G, XR_941493.4:n.434C>G, XR_941493.3:n.397C>G, XR_941493.2:n.457C>G, XR_941493.1:n.397C>G, XM_011534924.4:c.374C>G, XM_011534924.3:c.374C>G, XM_011534924.2:c.374C>G, XM_011534924.1:c.374C>G, XM_011534921.4:c.374C>G, XM_011534921.3:c.374C>G, XM_011534921.2:c.374C>G, XM_011534921.1:c.374C>G, XM_011534927.4:c.374C>G, XM_011534927.3:c.374C>G, XM_011534927.2:c.374C>G, XM_011534927.1:c.374C>G, XR_001749479.3:n.434C>G, XR_001749479.2:n.397C>G, XR_001749479.1:n.457C>G, NM_152325.3:c.374C>G, NM_152325.2:c.374C>G, NM_152325.1:c.374C>G, NM_001353388.2:c.-20C>G, NM_001353388.1:c.-20C>G, NM_001353389.2:c.-20C>G, NM_001353389.1:c.-20C>G, NM_001353391.2:c.-20C>G, NM_001353391.1:c.-20C>G, NM_001353390.2:c.-20C>G, NM_001353390.1:c.-20C>G, NR_148425.2:n.349C>G, NR_148425.1:n.308C>G, XM_047430094.1:c.278C>G, XP_011533221.1:p.Pro124Arg, XP_011533227.1:p.Pro125Arg, XP_011533228.1:p.Pro125Arg, XP_011533226.1:p.Pro125Arg, XP_011533223.1:p.Pro125Arg, XP_011533229.1:p.Pro125Arg, NP_689538.1:p.Pro125Arg, XP_047286050.1:p.Pro93Arg

                                16.

                                rs1409592018 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  13:30956956 (GRCh38)
                                  13:31531093 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:30956955:G:A,NC_000013.11:30956955:G:C
                                  Gene:
                                  TEX26 (Varview)
                                  Functional Consequence:
                                  initiator_codon_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000013.11:g.30956956G>A, NC_000013.11:g.30956956G>C, NC_000013.10:g.31531093G>A, NC_000013.10:g.31531093G>C, XM_011534919.4:c.393G>A, XM_011534919.4:c.393G>C, XM_011534919.3:c.393G>A, XM_011534919.3:c.393G>C, XM_011534919.2:c.393G>A, XM_011534919.2:c.393G>C, XM_011534919.1:c.393G>A, XM_011534919.1:c.393G>C, XM_011534925.4:c.396G>A, XM_011534925.4:c.396G>C, XM_011534925.3:c.396G>A, XM_011534925.3:c.396G>C, XM_011534925.2:c.396G>A, XM_011534925.2:c.396G>C, XM_011534925.1:c.396G>A, XM_011534925.1:c.396G>C, XM_011534926.4:c.396G>A, XM_011534926.4:c.396G>C, XM_011534926.3:c.396G>A, XM_011534926.3:c.396G>C, XM_011534926.2:c.396G>A, XM_011534926.2:c.396G>C, XM_011534926.1:c.396G>A, XM_011534926.1:c.396G>C, XR_941493.4:n.456G>A, XR_941493.4:n.456G>C, XR_941493.3:n.419G>A, XR_941493.3:n.419G>C, XR_941493.2:n.479G>A, XR_941493.2:n.479G>C, XR_941493.1:n.419G>A, XR_941493.1:n.419G>C, XM_011534924.4:c.396G>A, XM_011534924.4:c.396G>C, XM_011534924.3:c.396G>A, XM_011534924.3:c.396G>C, XM_011534924.2:c.396G>A, XM_011534924.2:c.396G>C, XM_011534924.1:c.396G>A, XM_011534924.1:c.396G>C, XM_011534921.4:c.396G>A, XM_011534921.4:c.396G>C, XM_011534921.3:c.396G>A, XM_011534921.3:c.396G>C, XM_011534921.2:c.396G>A, XM_011534921.2:c.396G>C, XM_011534921.1:c.396G>A, XM_011534921.1:c.396G>C, XM_011534927.4:c.396G>A, XM_011534927.4:c.396G>C, XM_011534927.3:c.396G>A, XM_011534927.3:c.396G>C, XM_011534927.2:c.396G>A, XM_011534927.2:c.396G>C, XM_011534927.1:c.396G>A, XM_011534927.1:c.396G>C, XR_001749479.3:n.456G>A, XR_001749479.3:n.456G>C, XR_001749479.2:n.419G>A, XR_001749479.2:n.419G>C, XR_001749479.1:n.479G>A, XR_001749479.1:n.479G>C, NM_152325.3:c.396G>A, NM_152325.3:c.396G>C, NM_152325.2:c.396G>A, NM_152325.2:c.396G>C, NM_152325.1:c.396G>A, NM_152325.1:c.396G>C, NM_001353388.2:c.3G>A, NM_001353388.2:c.3G>C, NM_001353388.1:c.3G>A, NM_001353388.1:c.3G>C, NM_001353389.2:c.3G>A, NM_001353389.2:c.3G>C, NM_001353389.1:c.3G>A, NM_001353389.1:c.3G>C, NM_001353391.2:c.3G>A, NM_001353391.2:c.3G>C, NM_001353391.1:c.3G>A, NM_001353391.1:c.3G>C, NM_001353390.2:c.3G>A, NM_001353390.2:c.3G>C, NM_001353390.1:c.3G>A, NM_001353390.1:c.3G>C, NR_148425.2:n.371G>A, NR_148425.2:n.371G>C, NR_148425.1:n.330G>A, NR_148425.1:n.330G>C, XM_047430094.1:c.300G>A, XM_047430094.1:c.300G>C, XP_011533221.1:p.Met131Ile, XP_011533221.1:p.Met131Ile, XP_011533227.1:p.Met132Ile, XP_011533227.1:p.Met132Ile, XP_011533228.1:p.Met132Ile, XP_011533228.1:p.Met132Ile, XP_011533226.1:p.Met132Ile, XP_011533226.1:p.Met132Ile, XP_011533223.1:p.Met132Ile, XP_011533223.1:p.Met132Ile, XP_011533229.1:p.Met132Ile, XP_011533229.1:p.Met132Ile, NP_689538.1:p.Met132Ile, NP_689538.1:p.Met132Ile, NP_001340317.1:p.Met1Ile, NP_001340317.1:p.Met1Ile, NP_001340318.1:p.Met1Ile, NP_001340318.1:p.Met1Ile, NP_001340320.1:p.Met1Ile, NP_001340320.1:p.Met1Ile, NP_001340319.1:p.Met1Ile, NP_001340319.1:p.Met1Ile, XP_047286050.1:p.Met100Ile, XP_047286050.1:p.Met100Ile

                                  17.

                                  rs1407949602 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    13:30952678 (GRCh38)
                                    13:31526815 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:30952677:A:T
                                    Gene:
                                    TEX26 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000031/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000013.11:g.30952678A>T, NC_000013.10:g.31526815A>T, XM_011534919.4:c.162A>T, XM_011534919.3:c.162A>T, XM_011534919.2:c.162A>T, XM_011534919.1:c.162A>T, XM_011534925.4:c.165A>T, XM_011534925.3:c.165A>T, XM_011534925.2:c.165A>T, XM_011534925.1:c.165A>T, XM_011534926.4:c.165A>T, XM_011534926.3:c.165A>T, XM_011534926.2:c.165A>T, XM_011534926.1:c.165A>T, XR_941493.4:n.225A>T, XR_941493.3:n.188A>T, XR_941493.2:n.248A>T, XR_941493.1:n.188A>T, XM_011534924.4:c.165A>T, XM_011534924.3:c.165A>T, XM_011534924.2:c.165A>T, XM_011534924.1:c.165A>T, XM_011534921.4:c.165A>T, XM_011534921.3:c.165A>T, XM_011534921.2:c.165A>T, XM_011534921.1:c.165A>T, XM_011534927.4:c.165A>T, XM_011534927.3:c.165A>T, XM_011534927.2:c.165A>T, XM_011534927.1:c.165A>T, XR_001749479.3:n.225A>T, XR_001749479.2:n.188A>T, XR_001749479.1:n.248A>T, NM_152325.3:c.165A>T, NM_152325.2:c.165A>T, NM_152325.1:c.165A>T, NM_001353388.2:c.-507A>T, NM_001353388.1:c.-507A>T, NM_001353389.2:c.-229A>T, NM_001353389.1:c.-229A>T, NR_148425.2:n.140A>T, NR_148425.1:n.99A>T, XM_047430094.1:c.69A>T, XP_011533221.1:p.Arg54Ser, XP_011533227.1:p.Arg55Ser, XP_011533228.1:p.Arg55Ser, XP_011533226.1:p.Arg55Ser, XP_011533223.1:p.Arg55Ser, XP_011533229.1:p.Arg55Ser, NP_689538.1:p.Arg55Ser, XP_047286050.1:p.Arg23Ser

                                    18.

                                    rs1405969492 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:30956894 (GRCh38)
                                      13:31531031 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:30956893:C:T
                                      Gene:
                                      TEX26 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000013.11:g.30956894C>T, NC_000013.10:g.31531031C>T, XM_011534919.4:c.331C>T, XM_011534919.3:c.331C>T, XM_011534919.2:c.331C>T, XM_011534919.1:c.331C>T, XM_011534925.4:c.334C>T, XM_011534925.3:c.334C>T, XM_011534925.2:c.334C>T, XM_011534925.1:c.334C>T, XM_011534926.4:c.334C>T, XM_011534926.3:c.334C>T, XM_011534926.2:c.334C>T, XM_011534926.1:c.334C>T, XR_941493.4:n.394C>T, XR_941493.3:n.357C>T, XR_941493.2:n.417C>T, XR_941493.1:n.357C>T, XM_011534924.4:c.334C>T, XM_011534924.3:c.334C>T, XM_011534924.2:c.334C>T, XM_011534924.1:c.334C>T, XM_011534921.4:c.334C>T, XM_011534921.3:c.334C>T, XM_011534921.2:c.334C>T, XM_011534921.1:c.334C>T, XM_011534927.4:c.334C>T, XM_011534927.3:c.334C>T, XM_011534927.2:c.334C>T, XM_011534927.1:c.334C>T, XR_001749479.3:n.394C>T, XR_001749479.2:n.357C>T, XR_001749479.1:n.417C>T, NM_152325.3:c.334C>T, NM_152325.2:c.334C>T, NM_152325.1:c.334C>T, NM_001353388.2:c.-60C>T, NM_001353388.1:c.-60C>T, NM_001353389.2:c.-60C>T, NM_001353389.1:c.-60C>T, NM_001353391.2:c.-60C>T, NM_001353391.1:c.-60C>T, NM_001353390.2:c.-60C>T, NM_001353390.1:c.-60C>T, NR_148425.2:n.309C>T, NR_148425.1:n.268C>T, XM_047430094.1:c.238C>T, XP_011533221.1:p.Pro111Ser, XP_011533227.1:p.Pro112Ser, XP_011533228.1:p.Pro112Ser, XP_011533226.1:p.Pro112Ser, XP_011533223.1:p.Pro112Ser, XP_011533229.1:p.Pro112Ser, NP_689538.1:p.Pro112Ser, XP_047286050.1:p.Pro80Ser

                                      19.

                                      rs1404932003 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        13:30952753 (GRCh38)
                                        13:31526890 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:30952752:A:C
                                        Gene:
                                        TEX26 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000177/3 (TOMMO)
                                        HGVS:
                                        NC_000013.11:g.30952753A>C, NC_000013.10:g.31526890A>C, XM_011534919.4:c.237A>C, XM_011534919.3:c.237A>C, XM_011534919.2:c.237A>C, XM_011534919.1:c.237A>C, XM_011534925.4:c.240A>C, XM_011534925.3:c.240A>C, XM_011534925.2:c.240A>C, XM_011534925.1:c.240A>C, XM_011534926.4:c.240A>C, XM_011534926.3:c.240A>C, XM_011534926.2:c.240A>C, XM_011534926.1:c.240A>C, XR_941493.4:n.300A>C, XR_941493.3:n.263A>C, XR_941493.2:n.323A>C, XR_941493.1:n.263A>C, XM_011534924.4:c.240A>C, XM_011534924.3:c.240A>C, XM_011534924.2:c.240A>C, XM_011534924.1:c.240A>C, XM_011534921.4:c.240A>C, XM_011534921.3:c.240A>C, XM_011534921.2:c.240A>C, XM_011534921.1:c.240A>C, XM_011534927.4:c.240A>C, XM_011534927.3:c.240A>C, XM_011534927.2:c.240A>C, XM_011534927.1:c.240A>C, XR_001749479.3:n.300A>C, XR_001749479.2:n.263A>C, XR_001749479.1:n.323A>C, NM_152325.3:c.240A>C, NM_152325.2:c.240A>C, NM_152325.1:c.240A>C, NM_001353388.2:c.-432A>C, NM_001353388.1:c.-432A>C, NM_001353389.2:c.-154A>C, NM_001353389.1:c.-154A>C, NR_148425.2:n.215A>C, NR_148425.1:n.174A>C, XM_047430094.1:c.144A>C

                                        20.

                                        rs1391218980 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          13:30932768 (GRCh38)
                                          13:31506905 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:30932767:T:A
                                          Gene:
                                          TEX26 (Varview), TEX26-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000013.11:g.30932768T>A, NC_000013.10:g.31506905T>A, XM_011534919.4:c.53T>A, XM_011534919.3:c.53T>A, XM_011534919.2:c.53T>A, XM_011534919.1:c.53T>A, XM_011534925.4:c.53T>A, XM_011534925.3:c.53T>A, XM_011534925.2:c.53T>A, XM_011534925.1:c.53T>A, XM_011534926.4:c.53T>A, XM_011534926.3:c.53T>A, XM_011534926.2:c.53T>A, XM_011534926.1:c.53T>A, XR_941493.4:n.113T>A, XR_941493.3:n.76T>A, XR_941493.2:n.136T>A, XR_941493.1:n.76T>A, XM_011534924.4:c.53T>A, XM_011534924.3:c.53T>A, XM_011534924.2:c.53T>A, XM_011534924.1:c.53T>A, XM_011534921.4:c.53T>A, XM_011534921.3:c.53T>A, XM_011534921.2:c.53T>A, XM_011534921.1:c.53T>A, XM_011534927.4:c.53T>A, XM_011534927.3:c.53T>A, XM_011534927.2:c.53T>A, XM_011534927.1:c.53T>A, XR_001749479.3:n.113T>A, XR_001749479.2:n.76T>A, XR_001749479.1:n.136T>A, NM_152325.3:c.53T>A, NM_152325.2:c.53T>A, NM_152325.1:c.53T>A, NM_001353388.2:c.-534T>A, NM_001353388.1:c.-534T>A, NM_001353389.2:c.-256T>A, NM_001353389.1:c.-256T>A, NM_001353391.2:c.-175T>A, NM_001353391.1:c.-175T>A, NM_001353390.2:c.-90T>A, NM_001353390.1:c.-90T>A, NR_148425.2:n.113T>A, NR_148425.1:n.72T>A, XM_047430094.1:c.-177T>A, XP_011533221.1:p.Leu18His, XP_011533227.1:p.Leu18His, XP_011533228.1:p.Leu18His, XP_011533226.1:p.Leu18His, XP_011533223.1:p.Leu18His, XP_011533229.1:p.Leu18His, NP_689538.1:p.Leu18His

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