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Items: 1 to 20 of 162

1.

rs1485228910 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:126899252 (GRCh38)
    2:127656828 (GRCh37)
    Canonical SPDI:
    NC_000002.12:126899251:T:C
    Gene:
    TEX51 (Varview), LOC105373603 (Varview)
    Functional Consequence:
    coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000008/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.126899252T>C, NC_000002.11:g.127656828T>C, XM_011512277.3:c.235T>C, XM_011512277.2:c.235T>C, XM_011512277.1:c.235T>C, XM_011512272.2:c.235T>C, XM_011512272.1:c.235T>C, XM_017003148.2:c.235T>C, XM_017003148.1:c.235T>C, XM_011512275.2:c.235T>C, XM_011512275.1:c.235T>C, XM_011512276.2:c.235T>C, XM_011512276.1:c.235T>C, XM_011512269.2:c.235T>C, XM_011512269.1:c.235T>C, XM_011512270.2:c.235T>C, XM_011512270.1:c.235T>C, XM_017003150.2:c.181T>C, XM_017003150.1:c.181T>C, NM_001322244.2:c.181T>C, NM_001322244.1:c.181T>C, XR_001738585.2:n.264T>C, XR_001738585.1:n.276T>C, XM_011512278.2:c.235T>C, XM_011512278.1:c.235T>C, XM_011512271.2:c.181T>C, XM_011512271.1:c.181T>C, XM_017003149.2:c.235T>C, XM_017003149.1:c.235T>C, NR_136239.2:n.210T>C, NR_136239.1:n.214T>C, XM_011512279.2:c.235T>C, XM_011512279.1:c.235T>C, XM_011512273.2:c.235T>C, XM_011512273.1:c.235T>C, XM_011512274.2:c.235T>C, XM_011512274.1:c.235T>C, XM_047442881.1:c.235T>C, NM_001410921.1:c.235T>C, XM_047442882.1:c.235T>C, XM_047442880.1:c.235T>C, XM_047442883.1:c.181T>C, XM_047442884.1:c.235T>C, XM_047442885.1:c.235T>C, XP_011510579.1:p.Phe79Leu, XP_011510574.1:p.Phe79Leu, XP_016858637.1:p.Phe79Leu, XP_011510577.1:p.Phe79Leu, XP_011510578.1:p.Phe79Leu, XP_011510571.1:p.Phe79Leu, XP_011510572.1:p.Phe79Leu, XP_016858639.1:p.Phe61Leu, NP_001309173.1:p.Phe61Leu, XP_011510580.1:p.Phe79Leu, XP_011510573.1:p.Phe61Leu, XP_016858638.1:p.Phe79Leu, XP_011510581.1:p.Phe79Leu, XP_011510575.1:p.Phe79Leu, XP_011510576.1:p.Phe79Leu, XP_047298837.1:p.Phe79Leu, XP_047298838.1:p.Phe79Leu, XP_047298836.1:p.Phe79Leu, XP_047298839.1:p.Phe61Leu, XP_047298840.1:p.Phe79Leu, XP_047298841.1:p.Phe79Leu

    2.

    rs1485126650 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:126901232 (GRCh38)
      2:127658808 (GRCh37)
      Canonical SPDI:
      NC_000002.12:126901231:G:A
      Gene:
      TEX51 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000017/2 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.126901232G>A, NC_000002.11:g.127658808G>A, XM_011512272.2:c.489G>A, XM_011512272.1:c.489G>A, XM_017003148.2:c.489G>A, XM_017003148.1:c.489G>A, XM_011512275.2:c.489G>A, XM_011512275.1:c.489G>A, XM_011512276.2:c.489G>A, XM_011512276.1:c.489G>A, XM_011512269.2:c.489G>A, XM_011512269.1:c.489G>A, XM_011512270.2:c.471G>A, XM_011512270.1:c.471G>A, XM_017003150.2:c.417G>A, XM_017003150.1:c.417G>A, NM_001322244.2:c.417G>A, NM_001322244.1:c.417G>A, XR_001738585.2:n.471G>A, XR_001738585.1:n.483G>A, XM_011512278.2:c.405G>A, XM_011512278.1:c.405G>A, XM_011512271.2:c.435G>A, XM_011512271.1:c.435G>A, XM_017003149.2:c.387G>A, XM_017003149.1:c.387G>A, NR_136239.2:n.417G>A, NR_136239.1:n.421G>A, XM_011512279.2:c.387G>A, XM_011512279.1:c.387G>A, XM_011512273.2:c.405G>A, XM_011512273.1:c.405G>A, XM_011512274.2:c.387G>A, XM_011512274.1:c.387G>A, XM_047442881.1:c.471G>A, NM_001410921.1:c.471G>A, XM_047442882.1:c.471G>A, XM_047442880.1:c.489G>A, XM_047442883.1:c.417G>A, XM_047442884.1:c.405G>A, XM_047442885.1:c.387G>A

      3.

      rs1484052654 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        2:126899237 (GRCh38)
        2:127656813 (GRCh37)
        Canonical SPDI:
        NC_000002.12:126899236:G:T
        Gene:
        TEX51 (Varview), LOC105373603 (Varview)
        Functional Consequence:
        upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.126899237G>T, NC_000002.11:g.127656813G>T, XM_011512277.3:c.220G>T, XM_011512277.2:c.220G>T, XM_011512277.1:c.220G>T, XM_011512272.2:c.220G>T, XM_011512272.1:c.220G>T, XM_017003148.2:c.220G>T, XM_017003148.1:c.220G>T, XM_011512275.2:c.220G>T, XM_011512275.1:c.220G>T, XM_011512276.2:c.220G>T, XM_011512276.1:c.220G>T, XM_011512269.2:c.220G>T, XM_011512269.1:c.220G>T, XM_011512270.2:c.220G>T, XM_011512270.1:c.220G>T, XM_017003150.2:c.166G>T, XM_017003150.1:c.166G>T, NM_001322244.2:c.166G>T, NM_001322244.1:c.166G>T, XR_001738585.2:n.249G>T, XR_001738585.1:n.261G>T, XM_011512278.2:c.220G>T, XM_011512278.1:c.220G>T, XM_011512271.2:c.166G>T, XM_011512271.1:c.166G>T, XM_017003149.2:c.220G>T, XM_017003149.1:c.220G>T, NR_136239.2:n.195G>T, NR_136239.1:n.199G>T, XM_011512279.2:c.220G>T, XM_011512279.1:c.220G>T, XM_011512273.2:c.220G>T, XM_011512273.1:c.220G>T, XM_011512274.2:c.220G>T, XM_011512274.1:c.220G>T, XM_047442881.1:c.220G>T, NM_001410921.1:c.220G>T, XM_047442882.1:c.220G>T, XM_047442880.1:c.220G>T, XM_047442883.1:c.166G>T, XM_047442884.1:c.220G>T, XM_047442885.1:c.220G>T, XP_011510579.1:p.Glu74Ter, XP_011510574.1:p.Glu74Ter, XP_016858637.1:p.Glu74Ter, XP_011510577.1:p.Glu74Ter, XP_011510578.1:p.Glu74Ter, XP_011510571.1:p.Glu74Ter, XP_011510572.1:p.Glu74Ter, XP_016858639.1:p.Glu56Ter, NP_001309173.1:p.Glu56Ter, XP_011510580.1:p.Glu74Ter, XP_011510573.1:p.Glu56Ter, XP_016858638.1:p.Glu74Ter, XP_011510581.1:p.Glu74Ter, XP_011510575.1:p.Glu74Ter, XP_011510576.1:p.Glu74Ter, XP_047298837.1:p.Glu74Ter, XP_047298838.1:p.Glu74Ter, XP_047298836.1:p.Glu74Ter, XP_047298839.1:p.Glu56Ter, XP_047298840.1:p.Glu74Ter, XP_047298841.1:p.Glu74Ter

        4.

        rs1481725130 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          2:126899838 (GRCh38)
          2:127657414 (GRCh37)
          Canonical SPDI:
          NC_000002.12:126899837:T:A
          Gene:
          TEX51 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/1 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000002.12:g.126899838T>A, NC_000002.11:g.127657414T>A, XM_011512277.3:c.367T>A, XM_011512277.2:c.367T>A, XM_011512277.1:c.367T>A, XM_011512272.2:c.367T>A, XM_011512272.1:c.367T>A, XM_017003148.2:c.367T>A, XM_017003148.1:c.367T>A, XM_011512275.2:c.367T>A, XM_011512275.1:c.367T>A, XM_011512276.2:c.367T>A, XM_011512276.1:c.367T>A, XM_011512269.2:c.367T>A, XM_011512269.1:c.367T>A, XR_001738585.2:n.433T>A, XR_001738585.1:n.445T>A, XM_011512278.2:c.367T>A, XM_011512278.1:c.367T>A, XM_011512271.2:c.313T>A, XM_011512271.1:c.313T>A, NR_136239.2:n.379T>A, NR_136239.1:n.383T>A, XM_011512273.2:c.367T>A, XM_011512273.1:c.367T>A, XM_047442880.1:c.367T>A, XM_047442884.1:c.367T>A, XP_011510579.1:p.Cys123Ser, XP_011510574.1:p.Cys123Ser, XP_016858637.1:p.Cys123Ser, XP_011510577.1:p.Cys123Ser, XP_011510578.1:p.Cys123Ser, XP_011510571.1:p.Cys123Ser, XP_011510580.1:p.Cys123Ser, XP_011510573.1:p.Cys105Ser, XP_011510575.1:p.Cys123Ser, XP_047298836.1:p.Cys123Ser, XP_047298840.1:p.Cys123Ser

          5.

          rs1478704254 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            2:126899286 (GRCh38)
            2:127656862 (GRCh37)
            Canonical SPDI:
            NC_000002.12:126899285:G:A,NC_000002.12:126899285:G:C
            Gene:
            TEX51 (Varview), LOC105373603 (Varview)
            Functional Consequence:
            upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000016/2 (GnomAD_exomes)
            A=0.000035/1 (TOMMO)
            HGVS:
            NC_000002.12:g.126899286G>A, NC_000002.12:g.126899286G>C, NC_000002.11:g.127656862G>A, NC_000002.11:g.127656862G>C, XM_011512277.3:c.269G>A, XM_011512277.3:c.269G>C, XM_011512277.2:c.269G>A, XM_011512277.2:c.269G>C, XM_011512277.1:c.269G>A, XM_011512277.1:c.269G>C, XM_011512272.2:c.269G>A, XM_011512272.2:c.269G>C, XM_011512272.1:c.269G>A, XM_011512272.1:c.269G>C, XM_017003148.2:c.269G>A, XM_017003148.2:c.269G>C, XM_017003148.1:c.269G>A, XM_017003148.1:c.269G>C, XM_011512275.2:c.269G>A, XM_011512275.2:c.269G>C, XM_011512275.1:c.269G>A, XM_011512275.1:c.269G>C, XM_011512276.2:c.269G>A, XM_011512276.2:c.269G>C, XM_011512276.1:c.269G>A, XM_011512276.1:c.269G>C, XM_011512269.2:c.269G>A, XM_011512269.2:c.269G>C, XM_011512269.1:c.269G>A, XM_011512269.1:c.269G>C, XM_011512270.2:c.269G>A, XM_011512270.2:c.269G>C, XM_011512270.1:c.269G>A, XM_011512270.1:c.269G>C, XM_017003150.2:c.215G>A, XM_017003150.2:c.215G>C, XM_017003150.1:c.215G>A, XM_017003150.1:c.215G>C, NM_001322244.2:c.215G>A, NM_001322244.2:c.215G>C, NM_001322244.1:c.215G>A, NM_001322244.1:c.215G>C, XR_001738585.2:n.298G>A, XR_001738585.2:n.298G>C, XR_001738585.1:n.310G>A, XR_001738585.1:n.310G>C, XM_011512278.2:c.269G>A, XM_011512278.2:c.269G>C, XM_011512278.1:c.269G>A, XM_011512278.1:c.269G>C, XM_011512271.2:c.215G>A, XM_011512271.2:c.215G>C, XM_011512271.1:c.215G>A, XM_011512271.1:c.215G>C, XM_017003149.2:c.269G>A, XM_017003149.2:c.269G>C, XM_017003149.1:c.269G>A, XM_017003149.1:c.269G>C, NR_136239.2:n.244G>A, NR_136239.2:n.244G>C, NR_136239.1:n.248G>A, NR_136239.1:n.248G>C, XM_011512279.2:c.269G>A, XM_011512279.2:c.269G>C, XM_011512279.1:c.269G>A, XM_011512279.1:c.269G>C, XM_011512273.2:c.269G>A, XM_011512273.2:c.269G>C, XM_011512273.1:c.269G>A, XM_011512273.1:c.269G>C, XM_011512274.2:c.269G>A, XM_011512274.2:c.269G>C, XM_011512274.1:c.269G>A, XM_011512274.1:c.269G>C, XM_047442881.1:c.269G>A, XM_047442881.1:c.269G>C, NM_001410921.1:c.269G>A, NM_001410921.1:c.269G>C, XM_047442882.1:c.269G>A, XM_047442882.1:c.269G>C, XM_047442880.1:c.269G>A, XM_047442880.1:c.269G>C, XM_047442883.1:c.215G>A, XM_047442883.1:c.215G>C, XM_047442884.1:c.269G>A, XM_047442884.1:c.269G>C, XM_047442885.1:c.269G>A, XM_047442885.1:c.269G>C, XP_011510579.1:p.Arg90Gln, XP_011510579.1:p.Arg90Pro, XP_011510574.1:p.Arg90Gln, XP_011510574.1:p.Arg90Pro, XP_016858637.1:p.Arg90Gln, XP_016858637.1:p.Arg90Pro, XP_011510577.1:p.Arg90Gln, XP_011510577.1:p.Arg90Pro, XP_011510578.1:p.Arg90Gln, XP_011510578.1:p.Arg90Pro, XP_011510571.1:p.Arg90Gln, XP_011510571.1:p.Arg90Pro, XP_011510572.1:p.Arg90Gln, XP_011510572.1:p.Arg90Pro, XP_016858639.1:p.Arg72Gln, XP_016858639.1:p.Arg72Pro, NP_001309173.1:p.Arg72Gln, NP_001309173.1:p.Arg72Pro, XP_011510580.1:p.Arg90Gln, XP_011510580.1:p.Arg90Pro, XP_011510573.1:p.Arg72Gln, XP_011510573.1:p.Arg72Pro, XP_016858638.1:p.Arg90Gln, XP_016858638.1:p.Arg90Pro, XP_011510581.1:p.Arg90Gln, XP_011510581.1:p.Arg90Pro, XP_011510575.1:p.Arg90Gln, XP_011510575.1:p.Arg90Pro, XP_011510576.1:p.Arg90Gln, XP_011510576.1:p.Arg90Pro, XP_047298837.1:p.Arg90Gln, XP_047298837.1:p.Arg90Pro, XP_047298838.1:p.Arg90Gln, XP_047298838.1:p.Arg90Pro, XP_047298836.1:p.Arg90Gln, XP_047298836.1:p.Arg90Pro, XP_047298839.1:p.Arg72Gln, XP_047298839.1:p.Arg72Pro, XP_047298840.1:p.Arg90Gln, XP_047298840.1:p.Arg90Pro, XP_047298841.1:p.Arg90Gln, XP_047298841.1:p.Arg90Pro

            6.

            rs1475644298 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:126899571 (GRCh38)
              2:127657147 (GRCh37)
              Canonical SPDI:
              NC_000002.12:126899570:C:G
              Gene:
              TEX51 (Varview), LOC105373603 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
              HGVS:
              NC_000002.12:g.126899571C>G, NC_000002.11:g.127657147C>G, XM_011512277.3:c.323C>G, XM_011512277.2:c.323C>G, XM_011512277.1:c.323C>G, XM_011512272.2:c.323C>G, XM_011512272.1:c.323C>G, XM_017003148.2:c.323C>G, XM_017003148.1:c.323C>G, XM_011512275.2:c.323C>G, XM_011512275.1:c.323C>G, XM_011512276.2:c.323C>G, XM_011512276.1:c.323C>G, XM_011512269.2:c.323C>G, XM_011512269.1:c.323C>G, XM_011512270.2:c.323C>G, XM_011512270.1:c.323C>G, XM_017003150.2:c.269C>G, XM_017003150.1:c.269C>G, NM_001322244.2:c.269C>G, NM_001322244.1:c.269C>G, XR_001738585.2:n.352C>G, XR_001738585.1:n.364C>G, XM_011512278.2:c.323C>G, XM_011512278.1:c.323C>G, XM_011512271.2:c.269C>G, XM_011512271.1:c.269C>G, XM_017003149.2:c.323C>G, XM_017003149.1:c.323C>G, NR_136239.2:n.298C>G, NR_136239.1:n.302C>G, XM_011512279.2:c.323C>G, XM_011512279.1:c.323C>G, XM_011512273.2:c.323C>G, XM_011512273.1:c.323C>G, XM_011512274.2:c.323C>G, XM_011512274.1:c.323C>G, XM_047442881.1:c.323C>G, NM_001410921.1:c.323C>G, XM_047442882.1:c.323C>G, XM_047442880.1:c.323C>G, XM_047442883.1:c.269C>G, XM_047442884.1:c.323C>G, XM_047442885.1:c.323C>G, XP_011510579.1:p.Thr108Ser, XP_011510574.1:p.Thr108Ser, XP_016858637.1:p.Thr108Ser, XP_011510577.1:p.Thr108Ser, XP_011510578.1:p.Thr108Ser, XP_011510571.1:p.Thr108Ser, XP_011510572.1:p.Thr108Ser, XP_016858639.1:p.Thr90Ser, NP_001309173.1:p.Thr90Ser, XP_011510580.1:p.Thr108Ser, XP_011510573.1:p.Thr90Ser, XP_016858638.1:p.Thr108Ser, XP_011510581.1:p.Thr108Ser, XP_011510575.1:p.Thr108Ser, XP_011510576.1:p.Thr108Ser, XP_047298837.1:p.Thr108Ser, XP_047298838.1:p.Thr108Ser, XP_047298836.1:p.Thr108Ser, XP_047298839.1:p.Thr90Ser, XP_047298840.1:p.Thr108Ser, XP_047298841.1:p.Thr108Ser

              7.

              rs1474312845 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:126899057 (GRCh38)
                2:127656633 (GRCh37)
                Canonical SPDI:
                NC_000002.12:126899056:T:C
                Gene:
                TEX51 (Varview), LOC105373603 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.126899057T>C, NC_000002.11:g.127656633T>C, XM_011512277.3:c.139T>C, XM_011512277.2:c.139T>C, XM_011512277.1:c.139T>C, XM_011512272.2:c.139T>C, XM_011512272.1:c.139T>C, XM_017003148.2:c.139T>C, XM_017003148.1:c.139T>C, XM_011512275.2:c.139T>C, XM_011512275.1:c.139T>C, XM_011512276.2:c.139T>C, XM_011512276.1:c.139T>C, XM_011512269.2:c.139T>C, XM_011512269.1:c.139T>C, XM_011512270.2:c.139T>C, XM_011512270.1:c.139T>C, XM_017003150.2:c.139T>C, XM_017003150.1:c.139T>C, NM_001322244.2:c.139T>C, NM_001322244.1:c.139T>C, XR_001738585.2:n.168T>C, XR_001738585.1:n.180T>C, XM_011512278.2:c.139T>C, XM_011512278.1:c.139T>C, XM_011512271.2:c.139T>C, XM_011512271.1:c.139T>C, XM_017003149.2:c.139T>C, XM_017003149.1:c.139T>C, NR_136239.2:n.168T>C, NR_136239.1:n.172T>C, XM_011512279.2:c.139T>C, XM_011512279.1:c.139T>C, XM_011512273.2:c.139T>C, XM_011512273.1:c.139T>C, XM_011512274.2:c.139T>C, XM_011512274.1:c.139T>C, XM_047442881.1:c.139T>C, NM_001410921.1:c.139T>C, XM_047442882.1:c.139T>C, XM_047442880.1:c.139T>C, XM_047442883.1:c.139T>C, XM_047442884.1:c.139T>C, XM_047442885.1:c.139T>C, XP_011510579.1:p.Ser47Pro, XP_011510574.1:p.Ser47Pro, XP_016858637.1:p.Ser47Pro, XP_011510577.1:p.Ser47Pro, XP_011510578.1:p.Ser47Pro, XP_011510571.1:p.Ser47Pro, XP_011510572.1:p.Ser47Pro, XP_016858639.1:p.Ser47Pro, NP_001309173.1:p.Ser47Pro, XP_011510580.1:p.Ser47Pro, XP_011510573.1:p.Ser47Pro, XP_016858638.1:p.Ser47Pro, XP_011510581.1:p.Ser47Pro, XP_011510575.1:p.Ser47Pro, XP_011510576.1:p.Ser47Pro, XP_047298837.1:p.Ser47Pro, XP_047298838.1:p.Ser47Pro, XP_047298836.1:p.Ser47Pro, XP_047298839.1:p.Ser47Pro, XP_047298840.1:p.Ser47Pro, XP_047298841.1:p.Ser47Pro

                8.

                rs1470137139 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:126901266 (GRCh38)
                  2:127658842 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:126901265:G:A
                  Gene:
                  TEX51 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                  HGVS:
                  NC_000002.12:g.126901266G>A, NC_000002.11:g.127658842G>A, XM_011512272.2:c.523G>A, XM_011512272.1:c.523G>A, XM_017003148.2:c.523G>A, XM_017003148.1:c.523G>A, XM_011512275.2:c.523G>A, XM_011512275.1:c.523G>A, XM_011512276.2:c.523G>A, XM_011512276.1:c.523G>A, XM_011512269.2:c.523G>A, XM_011512269.1:c.523G>A, XM_011512270.2:c.505G>A, XM_011512270.1:c.505G>A, XM_017003150.2:c.451G>A, XM_017003150.1:c.451G>A, NM_001322244.2:c.451G>A, NM_001322244.1:c.451G>A, XR_001738585.2:n.505G>A, XR_001738585.1:n.517G>A, XM_011512278.2:c.439G>A, XM_011512278.1:c.439G>A, XM_011512271.2:c.469G>A, XM_011512271.1:c.469G>A, XM_017003149.2:c.421G>A, XM_017003149.1:c.421G>A, NR_136239.2:n.451G>A, NR_136239.1:n.455G>A, XM_011512279.2:c.421G>A, XM_011512279.1:c.421G>A, XM_011512273.2:c.439G>A, XM_011512273.1:c.439G>A, XM_011512274.2:c.421G>A, XM_011512274.1:c.421G>A, XM_047442881.1:c.505G>A, NM_001410921.1:c.505G>A, XM_047442882.1:c.505G>A, XM_047442880.1:c.523G>A, XM_047442883.1:c.451G>A, XM_047442884.1:c.439G>A, XM_047442885.1:c.421G>A, XP_011510574.1:p.Ala175Thr, XP_016858637.1:p.Ala175Thr, XP_011510577.1:p.Ala175Thr, XP_011510578.1:p.Ala175Thr, XP_011510571.1:p.Ala175Thr, XP_011510572.1:p.Ala169Thr, XP_016858639.1:p.Ala151Thr, NP_001309173.1:p.Ala151Thr, XP_011510580.1:p.Ala147Thr, XP_011510573.1:p.Ala157Thr, XP_016858638.1:p.Ala141Thr, XP_011510581.1:p.Ala141Thr, XP_011510575.1:p.Ala147Thr, XP_011510576.1:p.Ala141Thr, XP_047298837.1:p.Ala169Thr, XP_047298838.1:p.Ala169Thr, XP_047298836.1:p.Ala175Thr, XP_047298839.1:p.Ala151Thr, XP_047298840.1:p.Ala147Thr, XP_047298841.1:p.Ala141Thr

                  9.

                  rs1468886392 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:126899597 (GRCh38)
                    2:127657173 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:126899596:G:A
                    Gene:
                    TEX51 (Varview), LOC105373603 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000002.12:g.126899597G>A, NC_000002.11:g.127657173G>A, XM_011512277.3:c.349G>A, XM_011512277.2:c.349G>A, XM_011512277.1:c.349G>A, XM_011512272.2:c.349G>A, XM_011512272.1:c.349G>A, XM_017003148.2:c.349G>A, XM_017003148.1:c.349G>A, XM_011512275.2:c.349G>A, XM_011512275.1:c.349G>A, XM_011512276.2:c.349G>A, XM_011512276.1:c.349G>A, XM_011512269.2:c.349G>A, XM_011512269.1:c.349G>A, XM_011512270.2:c.349G>A, XM_011512270.1:c.349G>A, XM_017003150.2:c.295G>A, XM_017003150.1:c.295G>A, NM_001322244.2:c.295G>A, NM_001322244.1:c.295G>A, XR_001738585.2:n.378G>A, XR_001738585.1:n.390G>A, XM_011512278.2:c.349G>A, XM_011512278.1:c.349G>A, XM_011512271.2:c.295G>A, XM_011512271.1:c.295G>A, XM_017003149.2:c.349G>A, XM_017003149.1:c.349G>A, NR_136239.2:n.324G>A, NR_136239.1:n.328G>A, XM_011512279.2:c.349G>A, XM_011512279.1:c.349G>A, XM_011512273.2:c.349G>A, XM_011512273.1:c.349G>A, XM_011512274.2:c.349G>A, XM_011512274.1:c.349G>A, XM_047442881.1:c.349G>A, NM_001410921.1:c.349G>A, XM_047442882.1:c.349G>A, XM_047442880.1:c.349G>A, XM_047442883.1:c.295G>A, XM_047442884.1:c.349G>A, XM_047442885.1:c.349G>A, XP_011510579.1:p.Gly117Arg, XP_011510574.1:p.Gly117Arg, XP_016858637.1:p.Gly117Arg, XP_011510577.1:p.Gly117Arg, XP_011510578.1:p.Gly117Arg, XP_011510571.1:p.Gly117Arg, XP_011510572.1:p.Gly117Arg, XP_016858639.1:p.Gly99Arg, NP_001309173.1:p.Gly99Arg, XP_011510580.1:p.Gly117Arg, XP_011510573.1:p.Gly99Arg, XP_016858638.1:p.Gly117Arg, XP_011510581.1:p.Gly117Arg, XP_011510575.1:p.Gly117Arg, XP_011510576.1:p.Gly117Arg, XP_047298837.1:p.Gly117Arg, XP_047298838.1:p.Gly117Arg, XP_047298836.1:p.Gly117Arg, XP_047298839.1:p.Gly99Arg, XP_047298840.1:p.Gly117Arg, XP_047298841.1:p.Gly117Arg

                    10.

                    rs1466713158 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:126899551 (GRCh38)
                      2:127657127 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:126899550:C:T
                      Gene:
                      TEX51 (Varview), LOC105373603 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                      HGVS:
                      NC_000002.12:g.126899551C>T, NC_000002.11:g.127657127C>T, XM_011512277.3:c.303C>T, XM_011512277.2:c.303C>T, XM_011512277.1:c.303C>T, XM_011512272.2:c.303C>T, XM_011512272.1:c.303C>T, XM_017003148.2:c.303C>T, XM_017003148.1:c.303C>T, XM_011512275.2:c.303C>T, XM_011512275.1:c.303C>T, XM_011512276.2:c.303C>T, XM_011512276.1:c.303C>T, XM_011512269.2:c.303C>T, XM_011512269.1:c.303C>T, XM_011512270.2:c.303C>T, XM_011512270.1:c.303C>T, XM_017003150.2:c.249C>T, XM_017003150.1:c.249C>T, NM_001322244.2:c.249C>T, NM_001322244.1:c.249C>T, XR_001738585.2:n.332C>T, XR_001738585.1:n.344C>T, XM_011512278.2:c.303C>T, XM_011512278.1:c.303C>T, XM_011512271.2:c.249C>T, XM_011512271.1:c.249C>T, XM_017003149.2:c.303C>T, XM_017003149.1:c.303C>T, NR_136239.2:n.278C>T, NR_136239.1:n.282C>T, XM_011512279.2:c.303C>T, XM_011512279.1:c.303C>T, XM_011512273.2:c.303C>T, XM_011512273.1:c.303C>T, XM_011512274.2:c.303C>T, XM_011512274.1:c.303C>T, XM_047442881.1:c.303C>T, NM_001410921.1:c.303C>T, XM_047442882.1:c.303C>T, XM_047442880.1:c.303C>T, XM_047442883.1:c.249C>T, XM_047442884.1:c.303C>T, XM_047442885.1:c.303C>T

                      11.

                      rs1465367366 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:126899043 (GRCh38)
                        2:127656619 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:126899042:C:T
                        Gene:
                        TEX51 (Varview), LOC105373603 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000008/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.126899043C>T, NC_000002.11:g.127656619C>T, XM_011512277.3:c.125C>T, XM_011512277.2:c.125C>T, XM_011512277.1:c.125C>T, XM_011512272.2:c.125C>T, XM_011512272.1:c.125C>T, XM_017003148.2:c.125C>T, XM_017003148.1:c.125C>T, XM_011512275.2:c.125C>T, XM_011512275.1:c.125C>T, XM_011512276.2:c.125C>T, XM_011512276.1:c.125C>T, XM_011512269.2:c.125C>T, XM_011512269.1:c.125C>T, XM_011512270.2:c.125C>T, XM_011512270.1:c.125C>T, XM_017003150.2:c.125C>T, XM_017003150.1:c.125C>T, NM_001322244.2:c.125C>T, NM_001322244.1:c.125C>T, XR_001738585.2:n.154C>T, XR_001738585.1:n.166C>T, XM_011512278.2:c.125C>T, XM_011512278.1:c.125C>T, XM_011512271.2:c.125C>T, XM_011512271.1:c.125C>T, XM_017003149.2:c.125C>T, XM_017003149.1:c.125C>T, NR_136239.2:n.154C>T, NR_136239.1:n.158C>T, XM_011512279.2:c.125C>T, XM_011512279.1:c.125C>T, XM_011512273.2:c.125C>T, XM_011512273.1:c.125C>T, XM_011512274.2:c.125C>T, XM_011512274.1:c.125C>T, XM_047442881.1:c.125C>T, NM_001410921.1:c.125C>T, XM_047442882.1:c.125C>T, XM_047442880.1:c.125C>T, XM_047442883.1:c.125C>T, XM_047442884.1:c.125C>T, XM_047442885.1:c.125C>T, XP_011510579.1:p.Pro42Leu, XP_011510574.1:p.Pro42Leu, XP_016858637.1:p.Pro42Leu, XP_011510577.1:p.Pro42Leu, XP_011510578.1:p.Pro42Leu, XP_011510571.1:p.Pro42Leu, XP_011510572.1:p.Pro42Leu, XP_016858639.1:p.Pro42Leu, NP_001309173.1:p.Pro42Leu, XP_011510580.1:p.Pro42Leu, XP_011510573.1:p.Pro42Leu, XP_016858638.1:p.Pro42Leu, XP_011510581.1:p.Pro42Leu, XP_011510575.1:p.Pro42Leu, XP_011510576.1:p.Pro42Leu, XP_047298837.1:p.Pro42Leu, XP_047298838.1:p.Pro42Leu, XP_047298836.1:p.Pro42Leu, XP_047298839.1:p.Pro42Leu, XP_047298840.1:p.Pro42Leu, XP_047298841.1:p.Pro42Leu

                        12.

                        rs1462883968 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:126901401 (GRCh38)
                          2:127658977 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:126901400:A:G
                          Gene:
                          TEX51 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,terminator_codon_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1462092460 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            2:126899525 (GRCh38)
                            2:127657101 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:126899524:AAAA:AAA
                            Gene:
                            TEX51 (Varview), LOC105373603 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000002.12:g.126899528del, NC_000002.11:g.127657104del, XM_011512277.3:c.280del, XM_011512277.2:c.280del, XM_011512277.1:c.280del, XM_011512272.2:c.280del, XM_011512272.1:c.280del, XM_017003148.2:c.280del, XM_017003148.1:c.280del, XM_011512275.2:c.280del, XM_011512275.1:c.280del, XM_011512276.2:c.280del, XM_011512276.1:c.280del, XM_011512269.2:c.280del, XM_011512269.1:c.280del, XM_011512270.2:c.280del, XM_011512270.1:c.280del, XM_017003150.2:c.226del, XM_017003150.1:c.226del, NM_001322244.2:c.226del, NM_001322244.1:c.226del, XR_001738585.2:n.309del, XR_001738585.1:n.321del, XM_011512278.2:c.280del, XM_011512278.1:c.280del, XM_011512271.2:c.226del, XM_011512271.1:c.226del, XM_017003149.2:c.280del, XM_017003149.1:c.280del, NR_136239.2:n.255del, NR_136239.1:n.259del, XM_011512279.2:c.280del, XM_011512279.1:c.280del, XM_011512273.2:c.280del, XM_011512273.1:c.280del, XM_011512274.2:c.280del, XM_011512274.1:c.280del, XM_047442881.1:c.280del, NM_001410921.1:c.280del, XM_047442882.1:c.280del, XM_047442880.1:c.280del, XM_047442883.1:c.226del, XM_047442884.1:c.280del, XM_047442885.1:c.280del, XP_011510579.1:p.Thr94fs, XP_011510574.1:p.Thr94fs, XP_016858637.1:p.Thr94fs, XP_011510577.1:p.Thr94fs, XP_011510578.1:p.Thr94fs, XP_011510571.1:p.Thr94fs, XP_011510572.1:p.Thr94fs, XP_016858639.1:p.Thr76fs, NP_001309173.1:p.Thr76fs, XP_011510580.1:p.Thr94fs, XP_011510573.1:p.Thr76fs, XP_016858638.1:p.Thr94fs, XP_011510581.1:p.Thr94fs, XP_011510575.1:p.Thr94fs, XP_011510576.1:p.Thr94fs, XP_047298837.1:p.Thr94fs, XP_047298838.1:p.Thr94fs, XP_047298836.1:p.Thr94fs, XP_047298839.1:p.Thr76fs, XP_047298840.1:p.Thr94fs, XP_047298841.1:p.Thr94fs

                            14.

                            rs1460565598 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:126899082 (GRCh38)
                              2:127656658 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:126899081:T:C
                              Gene:
                              TEX51 (Varview), LOC105373603 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000008/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.126899082T>C, NC_000002.11:g.127656658T>C, XM_011512277.3:c.164T>C, XM_011512277.2:c.164T>C, XM_011512277.1:c.164T>C, XM_011512272.2:c.164T>C, XM_011512272.1:c.164T>C, XM_017003148.2:c.164T>C, XM_017003148.1:c.164T>C, XM_011512275.2:c.164T>C, XM_011512275.1:c.164T>C, XM_011512276.2:c.164T>C, XM_011512276.1:c.164T>C, XM_011512269.2:c.164T>C, XM_011512269.1:c.164T>C, XM_011512270.2:c.164T>C, XM_011512270.1:c.164T>C, XR_001738585.2:n.193T>C, XR_001738585.1:n.205T>C, XM_011512278.2:c.164T>C, XM_011512278.1:c.164T>C, XM_017003149.2:c.164T>C, XM_017003149.1:c.164T>C, XM_011512279.2:c.164T>C, XM_011512279.1:c.164T>C, XM_011512273.2:c.164T>C, XM_011512273.1:c.164T>C, XM_011512274.2:c.164T>C, XM_011512274.1:c.164T>C, XM_047442881.1:c.164T>C, NM_001410921.1:c.164T>C, XM_047442882.1:c.164T>C, XM_047442880.1:c.164T>C, XM_047442884.1:c.164T>C, XM_047442885.1:c.164T>C, XP_011510579.1:p.Leu55Pro, XP_011510574.1:p.Leu55Pro, XP_016858637.1:p.Leu55Pro, XP_011510577.1:p.Leu55Pro, XP_011510578.1:p.Leu55Pro, XP_011510571.1:p.Leu55Pro, XP_011510572.1:p.Leu55Pro, XP_011510580.1:p.Leu55Pro, XP_016858638.1:p.Leu55Pro, XP_011510581.1:p.Leu55Pro, XP_011510575.1:p.Leu55Pro, XP_011510576.1:p.Leu55Pro, XP_047298837.1:p.Leu55Pro, XP_047298838.1:p.Leu55Pro, XP_047298836.1:p.Leu55Pro, XP_047298840.1:p.Leu55Pro, XP_047298841.1:p.Leu55Pro

                              15.

                              rs1458830996 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                2:126899588 (GRCh38)
                                2:127657164 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:126899587:A:C,NC_000002.12:126899587:A:G
                                Gene:
                                TEX51 (Varview), LOC105373603 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                G=0.000008/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.126899588A>C, NC_000002.12:g.126899588A>G, NC_000002.11:g.127657164A>C, NC_000002.11:g.127657164A>G, XM_011512277.3:c.340A>C, XM_011512277.3:c.340A>G, XM_011512277.2:c.340A>C, XM_011512277.2:c.340A>G, XM_011512277.1:c.340A>C, XM_011512277.1:c.340A>G, XM_011512272.2:c.340A>C, XM_011512272.2:c.340A>G, XM_011512272.1:c.340A>C, XM_011512272.1:c.340A>G, XM_017003148.2:c.340A>C, XM_017003148.2:c.340A>G, XM_017003148.1:c.340A>C, XM_017003148.1:c.340A>G, XM_011512275.2:c.340A>C, XM_011512275.2:c.340A>G, XM_011512275.1:c.340A>C, XM_011512275.1:c.340A>G, XM_011512276.2:c.340A>C, XM_011512276.2:c.340A>G, XM_011512276.1:c.340A>C, XM_011512276.1:c.340A>G, XM_011512269.2:c.340A>C, XM_011512269.2:c.340A>G, XM_011512269.1:c.340A>C, XM_011512269.1:c.340A>G, XM_011512270.2:c.340A>C, XM_011512270.2:c.340A>G, XM_011512270.1:c.340A>C, XM_011512270.1:c.340A>G, XM_017003150.2:c.286A>C, XM_017003150.2:c.286A>G, XM_017003150.1:c.286A>C, XM_017003150.1:c.286A>G, NM_001322244.2:c.286A>C, NM_001322244.2:c.286A>G, NM_001322244.1:c.286A>C, NM_001322244.1:c.286A>G, XR_001738585.2:n.369A>C, XR_001738585.2:n.369A>G, XR_001738585.1:n.381A>C, XR_001738585.1:n.381A>G, XM_011512278.2:c.340A>C, XM_011512278.2:c.340A>G, XM_011512278.1:c.340A>C, XM_011512278.1:c.340A>G, XM_011512271.2:c.286A>C, XM_011512271.2:c.286A>G, XM_011512271.1:c.286A>C, XM_011512271.1:c.286A>G, XM_017003149.2:c.340A>C, XM_017003149.2:c.340A>G, XM_017003149.1:c.340A>C, XM_017003149.1:c.340A>G, NR_136239.2:n.315A>C, NR_136239.2:n.315A>G, NR_136239.1:n.319A>C, NR_136239.1:n.319A>G, XM_011512279.2:c.340A>C, XM_011512279.2:c.340A>G, XM_011512279.1:c.340A>C, XM_011512279.1:c.340A>G, XM_011512273.2:c.340A>C, XM_011512273.2:c.340A>G, XM_011512273.1:c.340A>C, XM_011512273.1:c.340A>G, XM_011512274.2:c.340A>C, XM_011512274.2:c.340A>G, XM_011512274.1:c.340A>C, XM_011512274.1:c.340A>G, XM_047442881.1:c.340A>C, XM_047442881.1:c.340A>G, NM_001410921.1:c.340A>C, NM_001410921.1:c.340A>G, XM_047442882.1:c.340A>C, XM_047442882.1:c.340A>G, XM_047442880.1:c.340A>C, XM_047442880.1:c.340A>G, XM_047442883.1:c.286A>C, XM_047442883.1:c.286A>G, XM_047442884.1:c.340A>C, XM_047442884.1:c.340A>G, XM_047442885.1:c.340A>C, XM_047442885.1:c.340A>G, XP_011510579.1:p.Ile114Leu, XP_011510579.1:p.Ile114Val, XP_011510574.1:p.Ile114Leu, XP_011510574.1:p.Ile114Val, XP_016858637.1:p.Ile114Leu, XP_016858637.1:p.Ile114Val, XP_011510577.1:p.Ile114Leu, XP_011510577.1:p.Ile114Val, XP_011510578.1:p.Ile114Leu, XP_011510578.1:p.Ile114Val, XP_011510571.1:p.Ile114Leu, XP_011510571.1:p.Ile114Val, XP_011510572.1:p.Ile114Leu, XP_011510572.1:p.Ile114Val, XP_016858639.1:p.Ile96Leu, XP_016858639.1:p.Ile96Val, NP_001309173.1:p.Ile96Leu, NP_001309173.1:p.Ile96Val, XP_011510580.1:p.Ile114Leu, XP_011510580.1:p.Ile114Val, XP_011510573.1:p.Ile96Leu, XP_011510573.1:p.Ile96Val, XP_016858638.1:p.Ile114Leu, XP_016858638.1:p.Ile114Val, XP_011510581.1:p.Ile114Leu, XP_011510581.1:p.Ile114Val, XP_011510575.1:p.Ile114Leu, XP_011510575.1:p.Ile114Val, XP_011510576.1:p.Ile114Leu, XP_011510576.1:p.Ile114Val, XP_047298837.1:p.Ile114Leu, XP_047298837.1:p.Ile114Val, XP_047298838.1:p.Ile114Leu, XP_047298838.1:p.Ile114Val, XP_047298836.1:p.Ile114Leu, XP_047298836.1:p.Ile114Val, XP_047298839.1:p.Ile96Leu, XP_047298839.1:p.Ile96Val, XP_047298840.1:p.Ile114Leu, XP_047298840.1:p.Ile114Val, XP_047298841.1:p.Ile114Leu, XP_047298841.1:p.Ile114Val

                                16.

                                rs1451605823 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:126899289 (GRCh38)
                                  2:127656865 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:126899288:A:G
                                  Gene:
                                  TEX51 (Varview), LOC105373603 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.126899289A>G, NC_000002.11:g.127656865A>G, XM_011512277.3:c.272A>G, XM_011512277.2:c.272A>G, XM_011512277.1:c.272A>G, XM_011512272.2:c.272A>G, XM_011512272.1:c.272A>G, XM_017003148.2:c.272A>G, XM_017003148.1:c.272A>G, XM_011512275.2:c.272A>G, XM_011512275.1:c.272A>G, XM_011512276.2:c.272A>G, XM_011512276.1:c.272A>G, XM_011512269.2:c.272A>G, XM_011512269.1:c.272A>G, XM_011512270.2:c.272A>G, XM_011512270.1:c.272A>G, XM_017003150.2:c.218A>G, XM_017003150.1:c.218A>G, NM_001322244.2:c.218A>G, NM_001322244.1:c.218A>G, XR_001738585.2:n.301A>G, XR_001738585.1:n.313A>G, XM_011512278.2:c.272A>G, XM_011512278.1:c.272A>G, XM_011512271.2:c.218A>G, XM_011512271.1:c.218A>G, XM_017003149.2:c.272A>G, XM_017003149.1:c.272A>G, NR_136239.2:n.247A>G, NR_136239.1:n.251A>G, XM_011512279.2:c.272A>G, XM_011512279.1:c.272A>G, XM_011512273.2:c.272A>G, XM_011512273.1:c.272A>G, XM_011512274.2:c.272A>G, XM_011512274.1:c.272A>G, XM_047442881.1:c.272A>G, NM_001410921.1:c.272A>G, XM_047442882.1:c.272A>G, XM_047442880.1:c.272A>G, XM_047442883.1:c.218A>G, XM_047442884.1:c.272A>G, XM_047442885.1:c.272A>G, XP_011510579.1:p.Asp91Gly, XP_011510574.1:p.Asp91Gly, XP_016858637.1:p.Asp91Gly, XP_011510577.1:p.Asp91Gly, XP_011510578.1:p.Asp91Gly, XP_011510571.1:p.Asp91Gly, XP_011510572.1:p.Asp91Gly, XP_016858639.1:p.Asp73Gly, NP_001309173.1:p.Asp73Gly, XP_011510580.1:p.Asp91Gly, XP_011510573.1:p.Asp73Gly, XP_016858638.1:p.Asp91Gly, XP_011510581.1:p.Asp91Gly, XP_011510575.1:p.Asp91Gly, XP_011510576.1:p.Asp91Gly, XP_047298837.1:p.Asp91Gly, XP_047298838.1:p.Asp91Gly, XP_047298836.1:p.Asp91Gly, XP_047298839.1:p.Asp73Gly, XP_047298840.1:p.Asp91Gly, XP_047298841.1:p.Asp91Gly

                                  17.

                                  rs1450950654 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:126901270 (GRCh38)
                                    2:127658846 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:126901269:T:C
                                    Gene:
                                    TEX51 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.126901270T>C, NC_000002.11:g.127658846T>C, XM_011512272.2:c.527T>C, XM_011512272.1:c.527T>C, XM_017003148.2:c.527T>C, XM_017003148.1:c.527T>C, XM_011512275.2:c.527T>C, XM_011512275.1:c.527T>C, XM_011512276.2:c.527T>C, XM_011512276.1:c.527T>C, XM_011512269.2:c.527T>C, XM_011512269.1:c.527T>C, XM_011512270.2:c.509T>C, XM_011512270.1:c.509T>C, XM_017003150.2:c.455T>C, XM_017003150.1:c.455T>C, NM_001322244.2:c.455T>C, NM_001322244.1:c.455T>C, XR_001738585.2:n.509T>C, XR_001738585.1:n.521T>C, XM_011512278.2:c.443T>C, XM_011512278.1:c.443T>C, XM_011512271.2:c.473T>C, XM_011512271.1:c.473T>C, XM_017003149.2:c.425T>C, XM_017003149.1:c.425T>C, NR_136239.2:n.455T>C, NR_136239.1:n.459T>C, XM_011512279.2:c.425T>C, XM_011512279.1:c.425T>C, XM_011512273.2:c.443T>C, XM_011512273.1:c.443T>C, XM_011512274.2:c.425T>C, XM_011512274.1:c.425T>C, XM_047442881.1:c.509T>C, NM_001410921.1:c.509T>C, XM_047442882.1:c.509T>C, XM_047442880.1:c.527T>C, XM_047442883.1:c.455T>C, XM_047442884.1:c.443T>C, XM_047442885.1:c.425T>C, XP_011510574.1:p.Ile176Thr, XP_016858637.1:p.Ile176Thr, XP_011510577.1:p.Ile176Thr, XP_011510578.1:p.Ile176Thr, XP_011510571.1:p.Ile176Thr, XP_011510572.1:p.Ile170Thr, XP_016858639.1:p.Ile152Thr, NP_001309173.1:p.Ile152Thr, XP_011510580.1:p.Ile148Thr, XP_011510573.1:p.Ile158Thr, XP_016858638.1:p.Ile142Thr, XP_011510581.1:p.Ile142Thr, XP_011510575.1:p.Ile148Thr, XP_011510576.1:p.Ile142Thr, XP_047298837.1:p.Ile170Thr, XP_047298838.1:p.Ile170Thr, XP_047298836.1:p.Ile176Thr, XP_047298839.1:p.Ile152Thr, XP_047298840.1:p.Ile148Thr, XP_047298841.1:p.Ile142Thr

                                    18.

                                    rs1447944833 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:126898944 (GRCh38)
                                      2:127656520 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:126898943:T:C
                                      Gene:
                                      TEX51 (Varview), LOC105373603 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      C=0.001638/3 (Korea1K)
                                      HGVS:
                                      NC_000002.12:g.126898944T>C, NC_000002.11:g.127656520T>C, XM_011512277.3:c.26T>C, XM_011512277.2:c.26T>C, XM_011512277.1:c.26T>C, XM_011512272.2:c.26T>C, XM_011512272.1:c.26T>C, XM_017003148.2:c.26T>C, XM_017003148.1:c.26T>C, XM_011512275.2:c.26T>C, XM_011512275.1:c.26T>C, XM_011512276.2:c.26T>C, XM_011512276.1:c.26T>C, XM_011512269.2:c.26T>C, XM_011512269.1:c.26T>C, XM_011512270.2:c.26T>C, XM_011512270.1:c.26T>C, XM_017003150.2:c.26T>C, XM_017003150.1:c.26T>C, NM_001322244.2:c.26T>C, NM_001322244.1:c.26T>C, XR_001738585.2:n.55T>C, XR_001738585.1:n.67T>C, XM_011512278.2:c.26T>C, XM_011512278.1:c.26T>C, XM_011512271.2:c.26T>C, XM_011512271.1:c.26T>C, XM_017003149.2:c.26T>C, XM_017003149.1:c.26T>C, NR_136239.2:n.55T>C, NR_136239.1:n.59T>C, XM_011512279.2:c.26T>C, XM_011512279.1:c.26T>C, XM_011512273.2:c.26T>C, XM_011512273.1:c.26T>C, XM_011512274.2:c.26T>C, XM_011512274.1:c.26T>C, XM_047442881.1:c.26T>C, NM_001410921.1:c.26T>C, XM_047442882.1:c.26T>C, XM_047442880.1:c.26T>C, XM_047442883.1:c.26T>C, XM_047442884.1:c.26T>C, XM_047442885.1:c.26T>C, XP_011510579.1:p.Leu9Pro, XP_011510574.1:p.Leu9Pro, XP_016858637.1:p.Leu9Pro, XP_011510577.1:p.Leu9Pro, XP_011510578.1:p.Leu9Pro, XP_011510571.1:p.Leu9Pro, XP_011510572.1:p.Leu9Pro, XP_016858639.1:p.Leu9Pro, NP_001309173.1:p.Leu9Pro, XP_011510580.1:p.Leu9Pro, XP_011510573.1:p.Leu9Pro, XP_016858638.1:p.Leu9Pro, XP_011510581.1:p.Leu9Pro, XP_011510575.1:p.Leu9Pro, XP_011510576.1:p.Leu9Pro, XP_047298837.1:p.Leu9Pro, XP_047298838.1:p.Leu9Pro, XP_047298836.1:p.Leu9Pro, XP_047298839.1:p.Leu9Pro, XP_047298840.1:p.Leu9Pro, XP_047298841.1:p.Leu9Pro

                                      19.

                                      rs1439599399 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:126898999 (GRCh38)
                                        2:127656575 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:126898998:C:T
                                        Gene:
                                        TEX51 (Varview), LOC105373603 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000043/1 (ALFA)
                                        T=0.000008/1 (GnomAD_exomes)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.126898999C>T, NC_000002.11:g.127656575C>T, XM_011512277.3:c.81C>T, XM_011512277.2:c.81C>T, XM_011512277.1:c.81C>T, XM_011512272.2:c.81C>T, XM_011512272.1:c.81C>T, XM_017003148.2:c.81C>T, XM_017003148.1:c.81C>T, XM_011512275.2:c.81C>T, XM_011512275.1:c.81C>T, XM_011512276.2:c.81C>T, XM_011512276.1:c.81C>T, XM_011512269.2:c.81C>T, XM_011512269.1:c.81C>T, XM_011512270.2:c.81C>T, XM_011512270.1:c.81C>T, XM_017003150.2:c.81C>T, XM_017003150.1:c.81C>T, NM_001322244.2:c.81C>T, NM_001322244.1:c.81C>T, XR_001738585.2:n.110C>T, XR_001738585.1:n.122C>T, XM_011512278.2:c.81C>T, XM_011512278.1:c.81C>T, XM_011512271.2:c.81C>T, XM_011512271.1:c.81C>T, XM_017003149.2:c.81C>T, XM_017003149.1:c.81C>T, NR_136239.2:n.110C>T, NR_136239.1:n.114C>T, XM_011512279.2:c.81C>T, XM_011512279.1:c.81C>T, XM_011512273.2:c.81C>T, XM_011512273.1:c.81C>T, XM_011512274.2:c.81C>T, XM_011512274.1:c.81C>T, XM_047442881.1:c.81C>T, NM_001410921.1:c.81C>T, XM_047442882.1:c.81C>T, XM_047442880.1:c.81C>T, XM_047442883.1:c.81C>T, XM_047442884.1:c.81C>T, XM_047442885.1:c.81C>T

                                        20.

                                        rs1436493074 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:126899004 (GRCh38)
                                          2:127656580 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:126899003:T:C
                                          Gene:
                                          TEX51 (Varview), LOC105373603 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000023/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.126899004T>C, NC_000002.11:g.127656580T>C, XM_011512277.3:c.86T>C, XM_011512277.2:c.86T>C, XM_011512277.1:c.86T>C, XM_011512272.2:c.86T>C, XM_011512272.1:c.86T>C, XM_017003148.2:c.86T>C, XM_017003148.1:c.86T>C, XM_011512275.2:c.86T>C, XM_011512275.1:c.86T>C, XM_011512276.2:c.86T>C, XM_011512276.1:c.86T>C, XM_011512269.2:c.86T>C, XM_011512269.1:c.86T>C, XM_011512270.2:c.86T>C, XM_011512270.1:c.86T>C, XM_017003150.2:c.86T>C, XM_017003150.1:c.86T>C, NM_001322244.2:c.86T>C, NM_001322244.1:c.86T>C, XR_001738585.2:n.115T>C, XR_001738585.1:n.127T>C, XM_011512278.2:c.86T>C, XM_011512278.1:c.86T>C, XM_011512271.2:c.86T>C, XM_011512271.1:c.86T>C, XM_017003149.2:c.86T>C, XM_017003149.1:c.86T>C, NR_136239.2:n.115T>C, NR_136239.1:n.119T>C, XM_011512279.2:c.86T>C, XM_011512279.1:c.86T>C, XM_011512273.2:c.86T>C, XM_011512273.1:c.86T>C, XM_011512274.2:c.86T>C, XM_011512274.1:c.86T>C, XM_047442881.1:c.86T>C, NM_001410921.1:c.86T>C, XM_047442882.1:c.86T>C, XM_047442880.1:c.86T>C, XM_047442883.1:c.86T>C, XM_047442884.1:c.86T>C, XM_047442885.1:c.86T>C, XP_011510579.1:p.Ile29Thr, XP_011510574.1:p.Ile29Thr, XP_016858637.1:p.Ile29Thr, XP_011510577.1:p.Ile29Thr, XP_011510578.1:p.Ile29Thr, XP_011510571.1:p.Ile29Thr, XP_011510572.1:p.Ile29Thr, XP_016858639.1:p.Ile29Thr, NP_001309173.1:p.Ile29Thr, XP_011510580.1:p.Ile29Thr, XP_011510573.1:p.Ile29Thr, XP_016858638.1:p.Ile29Thr, XP_011510581.1:p.Ile29Thr, XP_011510575.1:p.Ile29Thr, XP_011510576.1:p.Ile29Thr, XP_047298837.1:p.Ile29Thr, XP_047298838.1:p.Ile29Thr, XP_047298836.1:p.Ile29Thr, XP_047298839.1:p.Ile29Thr, XP_047298840.1:p.Ile29Thr, XP_047298841.1:p.Ile29Thr

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