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Items: 1 to 20 of 559

1.

rs1490798571 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GATA [Show Flanks]
    Chromosome:
    16:66788234 (GRCh38)
    16:66822138 (GRCh37)
    Canonical SPDI:
    NC_000016.10:66788234:TAGATA:TAGATAGATA
    Gene:
    TERB1 (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_indel,non_coding_transcript_variant,stop_gained
    Validated:
    by frequency,by alfa
    MAF:
    TAGATAGATA=0./0 (ALFA)
    TAGA=0.000004/1 (TOPMED)
    HGVS:
    NC_000016.10:g.66788237_66788240dup, NC_000016.9:g.66822140_66822143dup, XM_011523005.3:c.331_334dup, XM_011523005.2:c.331_334dup, XM_011523005.1:c.331_334dup, XM_011523008.3:c.331_334dup, XM_011523008.2:c.331_334dup, XM_011523008.1:c.331_334dup, XM_011523009.3:c.331_334dup, XM_011523009.2:c.331_334dup, XM_011523009.1:c.331_334dup, XM_011523012.3:c.298_301dup, XM_011523012.2:c.298_301dup, XM_011523012.1:c.298_301dup, NM_001136505.2:c.331_334dup, NM_001136505.1:c.331_334dup, XM_047433953.1:c.331_334dup, XM_047433947.1:c.331_334dup, XR_007064867.1:n.557_560dup, XM_047433948.1:c.331_334dup, XM_047433949.1:c.298_301dup, XM_047433946.1:c.331_334dup, XM_047433950.1:c.298_301dup, XM_047433951.1:c.331_334dup, XM_047433956.1:c.331_334dup, XM_047433952.1:c.331_334dup, NM_173616.1:c.331_334dup, XM_047433955.1:c.331_334dup, XR_007064868.1:n.557_560dup, XM_047433957.1:c.331_334dup, XP_011521307.1:p.Asn112delinsIleTer, XP_011521310.1:p.Asn112delinsIleTer, XP_011521311.1:p.Asn112delinsIleTer, XP_011521314.1:p.Asn101delinsIleTer, NP_001129977.1:p.Asn112delinsIleTer, XP_047289909.1:p.Asn112delinsIleTer, XP_047289903.1:p.Asn112delinsIleTer, XP_047289904.1:p.Asn112delinsIleTer, XP_047289905.1:p.Asn101delinsIleTer, XP_047289902.1:p.Asn112delinsIleTer, XP_047289906.1:p.Asn101delinsIleTer, XP_047289907.1:p.Asn112delinsIleTer, XP_047289912.1:p.Asn112delinsIleTer, XP_047289908.1:p.Asn112delinsIleTer, XP_047289911.1:p.Asn112delinsIleTer, XP_047289913.1:p.Asn112delinsIleTer

    2.

    rs1488558299 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      16:66790919 (GRCh38)
      16:66824822 (GRCh37)
      Canonical SPDI:
      NC_000016.10:66790918:A:G,NC_000016.10:66790918:A:T
      Gene:
      TERB1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,stop_gained,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000006/1 (GnomAD_exomes)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000016.10:g.66790919A>G, NC_000016.10:g.66790919A>T, NC_000016.9:g.66824822A>G, NC_000016.9:g.66824822A>T, XM_011523005.3:c.132T>C, XM_011523005.3:c.132T>A, XM_011523005.2:c.132T>C, XM_011523005.2:c.132T>A, XM_011523005.1:c.132T>C, XM_011523005.1:c.132T>A, XM_011523008.3:c.132T>C, XM_011523008.3:c.132T>A, XM_011523008.2:c.132T>C, XM_011523008.2:c.132T>A, XM_011523008.1:c.132T>C, XM_011523008.1:c.132T>A, XM_011523009.3:c.132T>C, XM_011523009.3:c.132T>A, XM_011523009.2:c.132T>C, XM_011523009.2:c.132T>A, XM_011523009.1:c.132T>C, XM_011523009.1:c.132T>A, XM_011523012.3:c.99T>C, XM_011523012.3:c.99T>A, XM_011523012.2:c.99T>C, XM_011523012.2:c.99T>A, XM_011523012.1:c.99T>C, XM_011523012.1:c.99T>A, NM_001136505.2:c.132T>C, NM_001136505.2:c.132T>A, NM_001136505.1:c.132T>C, NM_001136505.1:c.132T>A, XM_047433953.1:c.132T>C, XM_047433953.1:c.132T>A, XM_047433947.1:c.132T>C, XM_047433947.1:c.132T>A, XR_007064867.1:n.358T>C, XR_007064867.1:n.358T>A, XM_047433948.1:c.132T>C, XM_047433948.1:c.132T>A, XM_047433949.1:c.99T>C, XM_047433949.1:c.99T>A, XM_047433946.1:c.132T>C, XM_047433946.1:c.132T>A, XM_047433950.1:c.99T>C, XM_047433950.1:c.99T>A, XM_047433951.1:c.132T>C, XM_047433951.1:c.132T>A, XM_047433956.1:c.132T>C, XM_047433956.1:c.132T>A, XM_047433952.1:c.132T>C, XM_047433952.1:c.132T>A, NM_173616.1:c.132T>C, NM_173616.1:c.132T>A, XM_047433955.1:c.132T>C, XM_047433955.1:c.132T>A, XR_007064868.1:n.358T>C, XR_007064868.1:n.358T>A, XM_047433957.1:c.132T>C, XM_047433957.1:c.132T>A, XP_011521307.1:p.Cys44Ter, XP_011521310.1:p.Cys44Ter, XP_011521311.1:p.Cys44Ter, XP_011521314.1:p.Cys33Ter, NP_001129977.1:p.Cys44Ter, XP_047289909.1:p.Cys44Ter, XP_047289903.1:p.Cys44Ter, XP_047289904.1:p.Cys44Ter, XP_047289905.1:p.Cys33Ter, XP_047289902.1:p.Cys44Ter, XP_047289906.1:p.Cys33Ter, XP_047289907.1:p.Cys44Ter, XP_047289912.1:p.Cys44Ter, XP_047289908.1:p.Cys44Ter, XP_047289911.1:p.Cys44Ter, XP_047289913.1:p.Cys44Ter

      3.

      rs1488269412 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        16:66786253 (GRCh38)
        16:66820156 (GRCh37)
        Canonical SPDI:
        NC_000016.10:66786252:A:C,NC_000016.10:66786252:A:G
        Gene:
        TERB1 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        C=0.000006/1 (GnomAD_exomes)
        G=0.000008/2 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        NC_000016.10:g.66786253A>C, NC_000016.10:g.66786253A>G, NC_000016.9:g.66820156A>C, NC_000016.9:g.66820156A>G, XM_011523005.3:c.433T>G, XM_011523005.3:c.433T>C, XM_011523005.2:c.433T>G, XM_011523005.2:c.433T>C, XM_011523005.1:c.433T>G, XM_011523005.1:c.433T>C, XM_011523008.3:c.433T>G, XM_011523008.3:c.433T>C, XM_011523008.2:c.433T>G, XM_011523008.2:c.433T>C, XM_011523008.1:c.433T>G, XM_011523008.1:c.433T>C, XM_011523009.3:c.433T>G, XM_011523009.3:c.433T>C, XM_011523009.2:c.433T>G, XM_011523009.2:c.433T>C, XM_011523009.1:c.433T>G, XM_011523009.1:c.433T>C, XM_011523012.3:c.400T>G, XM_011523012.3:c.400T>C, XM_011523012.2:c.400T>G, XM_011523012.2:c.400T>C, XM_011523012.1:c.400T>G, XM_011523012.1:c.400T>C, NM_001136505.2:c.433T>G, NM_001136505.2:c.433T>C, NM_001136505.1:c.433T>G, NM_001136505.1:c.433T>C, XM_047433953.1:c.433T>G, XM_047433953.1:c.433T>C, XM_047433947.1:c.433T>G, XM_047433947.1:c.433T>C, XR_007064867.1:n.659T>G, XR_007064867.1:n.659T>C, XM_047433948.1:c.433T>G, XM_047433948.1:c.433T>C, XM_047433949.1:c.400T>G, XM_047433949.1:c.400T>C, XM_047433946.1:c.433T>G, XM_047433946.1:c.433T>C, XM_047433950.1:c.400T>G, XM_047433950.1:c.400T>C, XM_047433951.1:c.433T>G, XM_047433951.1:c.433T>C, XM_047433956.1:c.433T>G, XM_047433956.1:c.433T>C, XM_047433952.1:c.433T>G, XM_047433952.1:c.433T>C, NM_173616.1:c.433T>G, NM_173616.1:c.433T>C, XM_047433955.1:c.433T>G, XM_047433955.1:c.433T>C, XR_007064868.1:n.659T>G, XR_007064868.1:n.659T>C, XM_047433957.1:c.433T>G, XM_047433957.1:c.433T>C, XP_011521307.1:p.Cys145Gly, XP_011521307.1:p.Cys145Arg, XP_011521310.1:p.Cys145Gly, XP_011521310.1:p.Cys145Arg, XP_011521311.1:p.Cys145Gly, XP_011521311.1:p.Cys145Arg, XP_011521314.1:p.Cys134Gly, XP_011521314.1:p.Cys134Arg, NP_001129977.1:p.Cys145Gly, NP_001129977.1:p.Cys145Arg, XP_047289909.1:p.Cys145Gly, XP_047289909.1:p.Cys145Arg, XP_047289903.1:p.Cys145Gly, XP_047289903.1:p.Cys145Arg, XP_047289904.1:p.Cys145Gly, XP_047289904.1:p.Cys145Arg, XP_047289905.1:p.Cys134Gly, XP_047289905.1:p.Cys134Arg, XP_047289902.1:p.Cys145Gly, XP_047289902.1:p.Cys145Arg, XP_047289906.1:p.Cys134Gly, XP_047289906.1:p.Cys134Arg, XP_047289907.1:p.Cys145Gly, XP_047289907.1:p.Cys145Arg, XP_047289912.1:p.Cys145Gly, XP_047289912.1:p.Cys145Arg, XP_047289908.1:p.Cys145Gly, XP_047289908.1:p.Cys145Arg, XP_047289911.1:p.Cys145Gly, XP_047289911.1:p.Cys145Arg, XP_047289913.1:p.Cys145Gly, XP_047289913.1:p.Cys145Arg

        4.

        rs1488234412 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:66790698 (GRCh38)
          16:66824601 (GRCh37)
          Canonical SPDI:
          NC_000016.10:66790697:T:C
          Gene:
          TERB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000006/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1486725294 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:66769968 (GRCh38)
            16:66803871 (GRCh37)
            Canonical SPDI:
            NC_000016.10:66769967:T:C
            Gene:
            TERB1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000006/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1486630801 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              16:66778928 (GRCh38)
              16:66812831 (GRCh37)
              Canonical SPDI:
              NC_000016.10:66778927:G:C
              Gene:
              TERB1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000006/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.66778928G>C, NC_000016.9:g.66812831G>C, XM_011523005.3:c.788C>G, XM_011523005.2:c.788C>G, XM_011523005.1:c.788C>G, XM_011523008.3:c.788C>G, XM_011523008.2:c.788C>G, XM_011523008.1:c.788C>G, XM_011523009.3:c.788C>G, XM_011523009.2:c.788C>G, XM_011523009.1:c.788C>G, XM_011523012.3:c.755C>G, XM_011523012.2:c.755C>G, XM_011523012.1:c.755C>G, NM_001136505.2:c.788C>G, NM_001136505.1:c.788C>G, XM_047433953.1:c.788C>G, XM_047433947.1:c.788C>G, XR_007064867.1:n.1014C>G, XM_047433948.1:c.788C>G, XM_047433949.1:c.755C>G, XM_047433946.1:c.788C>G, XM_047433950.1:c.755C>G, XM_047433951.1:c.788C>G, XM_047433956.1:c.788C>G, XM_047433952.1:c.788C>G, NM_173616.1:c.788C>G, XM_047433955.1:c.788C>G, XR_007064868.1:n.1014C>G, XM_047433957.1:c.788C>G, XP_011521307.1:p.Thr263Ser, XP_011521310.1:p.Thr263Ser, XP_011521311.1:p.Thr263Ser, XP_011521314.1:p.Thr252Ser, NP_001129977.1:p.Thr263Ser, XP_047289909.1:p.Thr263Ser, XP_047289903.1:p.Thr263Ser, XP_047289904.1:p.Thr263Ser, XP_047289905.1:p.Thr252Ser, XP_047289902.1:p.Thr263Ser, XP_047289906.1:p.Thr252Ser, XP_047289907.1:p.Thr263Ser, XP_047289912.1:p.Thr263Ser, XP_047289908.1:p.Thr263Ser, XP_047289911.1:p.Thr263Ser, XP_047289913.1:p.Thr263Ser

              7.

              rs1486195696 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:66768127 (GRCh38)
                16:66802030 (GRCh37)
                Canonical SPDI:
                NC_000016.10:66768126:A:G
                Gene:
                TERB1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000013/2 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.66768127A>G, NC_000016.9:g.66802030A>G, XM_011523005.3:c.1661T>C, XM_011523005.2:c.1661T>C, XM_011523005.1:c.1661T>C, XM_011523008.3:c.1661T>C, XM_011523008.2:c.1661T>C, XM_011523008.1:c.1661T>C, XM_011523009.3:c.1661T>C, XM_011523009.2:c.1661T>C, XM_011523009.1:c.1661T>C, XM_011523012.3:c.1628T>C, XM_011523012.2:c.1628T>C, XM_011523012.1:c.1628T>C, NM_001136505.2:c.1661T>C, NM_001136505.1:c.1661T>C, XM_047433953.1:c.1661T>C, XM_047433947.1:c.1661T>C, XR_007064867.1:n.1887T>C, XM_047433948.1:c.1661T>C, XM_047433949.1:c.1628T>C, XM_047433946.1:c.1661T>C, XM_047433950.1:c.1628T>C, XM_047433951.1:c.1661T>C, XM_047433952.1:c.1661T>C, XM_047433955.1:c.1661T>C, XP_011521307.1:p.Ile554Thr, XP_011521310.1:p.Ile554Thr, XP_011521311.1:p.Ile554Thr, XP_011521314.1:p.Ile543Thr, NP_001129977.1:p.Ile554Thr, XP_047289909.1:p.Ile554Thr, XP_047289903.1:p.Ile554Thr, XP_047289904.1:p.Ile554Thr, XP_047289905.1:p.Ile543Thr, XP_047289902.1:p.Ile554Thr, XP_047289906.1:p.Ile543Thr, XP_047289907.1:p.Ile554Thr, XP_047289908.1:p.Ile554Thr, XP_047289911.1:p.Ile554Thr

                8.

                rs1485173952 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  16:66759179 (GRCh38)
                  16:66793082 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:66759178:T:C,NC_000016.10:66759178:T:G
                  Gene:
                  TERB1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000016.10:g.66759179T>C, NC_000016.10:g.66759179T>G, NC_000016.9:g.66793082T>C, NC_000016.9:g.66793082T>G, XM_011523005.3:c.1892A>G, XM_011523005.3:c.1892A>C, XM_011523005.2:c.1892A>G, XM_011523005.2:c.1892A>C, XM_011523005.1:c.1892A>G, XM_011523005.1:c.1892A>C, XM_011523008.3:c.1892A>G, XM_011523008.3:c.1892A>C, XM_011523008.2:c.1892A>G, XM_011523008.2:c.1892A>C, XM_011523008.1:c.1892A>G, XM_011523008.1:c.1892A>C, XM_011523009.3:c.1892A>G, XM_011523009.3:c.1892A>C, XM_011523009.2:c.1892A>G, XM_011523009.2:c.1892A>C, XM_011523009.1:c.1892A>G, XM_011523009.1:c.1892A>C, XM_011523012.3:c.1859A>G, XM_011523012.3:c.1859A>C, XM_011523012.2:c.1859A>G, XM_011523012.2:c.1859A>C, XM_011523012.1:c.1859A>G, XM_011523012.1:c.1859A>C, NM_001136505.2:c.1892A>G, NM_001136505.2:c.1892A>C, NM_001136505.1:c.1892A>G, NM_001136505.1:c.1892A>C, XM_047433953.1:c.1892A>G, XM_047433953.1:c.1892A>C, XM_047433947.1:c.1892A>G, XM_047433947.1:c.1892A>C, XR_007064867.1:n.2118A>G, XR_007064867.1:n.2118A>C, XM_047433948.1:c.1892A>G, XM_047433948.1:c.1892A>C, XM_047433949.1:c.1859A>G, XM_047433949.1:c.1859A>C, XM_047433946.1:c.1892A>G, XM_047433946.1:c.1892A>C, XM_047433950.1:c.1859A>G, XM_047433950.1:c.1859A>C, XM_047433952.1:c.1892A>G, XM_047433952.1:c.1892A>C, NM_173616.1:c.*174A>G, NM_173616.1:c.*174A>C, XP_011521307.1:p.Tyr631Cys, XP_011521307.1:p.Tyr631Ser, XP_011521310.1:p.Tyr631Cys, XP_011521310.1:p.Tyr631Ser, XP_011521311.1:p.Tyr631Cys, XP_011521311.1:p.Tyr631Ser, XP_011521314.1:p.Tyr620Cys, XP_011521314.1:p.Tyr620Ser, NP_001129977.1:p.Tyr631Cys, NP_001129977.1:p.Tyr631Ser, XP_047289909.1:p.Tyr631Cys, XP_047289909.1:p.Tyr631Ser, XP_047289903.1:p.Tyr631Cys, XP_047289903.1:p.Tyr631Ser, XP_047289904.1:p.Tyr631Cys, XP_047289904.1:p.Tyr631Ser, XP_047289905.1:p.Tyr620Cys, XP_047289905.1:p.Tyr620Ser, XP_047289902.1:p.Tyr631Cys, XP_047289902.1:p.Tyr631Ser, XP_047289906.1:p.Tyr620Cys, XP_047289906.1:p.Tyr620Ser, XP_047289908.1:p.Tyr631Cys, XP_047289908.1:p.Tyr631Ser

                  9.

                  rs1484779512 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:66755138 (GRCh38)
                    16:66789041 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:66755137:A:G
                    Gene:
                    TERB1 (Varview), DYNC1LI2-DT (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1484149940 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:66790929 (GRCh38)
                      16:66824832 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:66790928:T:C
                      Gene:
                      TERB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.66790929T>C, NC_000016.9:g.66824832T>C, XM_011523005.3:c.122A>G, XM_011523005.2:c.122A>G, XM_011523005.1:c.122A>G, XM_011523008.3:c.122A>G, XM_011523008.2:c.122A>G, XM_011523008.1:c.122A>G, XM_011523009.3:c.122A>G, XM_011523009.2:c.122A>G, XM_011523009.1:c.122A>G, XM_011523012.3:c.89A>G, XM_011523012.2:c.89A>G, XM_011523012.1:c.89A>G, NM_001136505.2:c.122A>G, NM_001136505.1:c.122A>G, XM_047433953.1:c.122A>G, XM_047433947.1:c.122A>G, XR_007064867.1:n.348A>G, XM_047433948.1:c.122A>G, XM_047433949.1:c.89A>G, XM_047433946.1:c.122A>G, XM_047433950.1:c.89A>G, XM_047433951.1:c.122A>G, XM_047433956.1:c.122A>G, XM_047433952.1:c.122A>G, NM_173616.1:c.122A>G, XM_047433955.1:c.122A>G, XR_007064868.1:n.348A>G, XM_047433957.1:c.122A>G, XP_011521307.1:p.His41Arg, XP_011521310.1:p.His41Arg, XP_011521311.1:p.His41Arg, XP_011521314.1:p.His30Arg, NP_001129977.1:p.His41Arg, XP_047289909.1:p.His41Arg, XP_047289903.1:p.His41Arg, XP_047289904.1:p.His41Arg, XP_047289905.1:p.His30Arg, XP_047289902.1:p.His41Arg, XP_047289906.1:p.His30Arg, XP_047289907.1:p.His41Arg, XP_047289912.1:p.His41Arg, XP_047289908.1:p.His41Arg, XP_047289911.1:p.His41Arg, XP_047289913.1:p.His41Arg

                      11.

                      rs1483353843 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        16:66788202 (GRCh38)
                        16:66822105 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:66788200:ACA:A
                        Gene:
                        TERB1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.66788202_66788203del, NC_000016.9:g.66822105_66822106del, XM_011523005.3:c.367_368del, XM_011523005.2:c.367_368del, XM_011523005.1:c.367_368del, XM_011523008.3:c.367_368del, XM_011523008.2:c.367_368del, XM_011523008.1:c.367_368del, XM_011523009.3:c.367_368del, XM_011523009.2:c.367_368del, XM_011523009.1:c.367_368del, XM_011523012.3:c.334_335del, XM_011523012.2:c.334_335del, XM_011523012.1:c.334_335del, NM_001136505.2:c.367_368del, NM_001136505.1:c.367_368del, XM_047433953.1:c.367_368del, XM_047433947.1:c.367_368del, XR_007064867.1:n.593_594del, XM_047433948.1:c.367_368del, XM_047433949.1:c.334_335del, XM_047433946.1:c.367_368del, XM_047433950.1:c.334_335del, XM_047433951.1:c.367_368del, XM_047433956.1:c.367_368del, XM_047433952.1:c.367_368del, NM_173616.1:c.367_368del, XM_047433955.1:c.367_368del, XR_007064868.1:n.593_594del, XM_047433957.1:c.367_368del, XP_011521307.1:p.Val123fs, XP_011521310.1:p.Val123fs, XP_011521311.1:p.Val123fs, XP_011521314.1:p.Val112fs, NP_001129977.1:p.Val123fs, XP_047289909.1:p.Val123fs, XP_047289903.1:p.Val123fs, XP_047289904.1:p.Val123fs, XP_047289905.1:p.Val112fs, XP_047289902.1:p.Val123fs, XP_047289906.1:p.Val112fs, XP_047289907.1:p.Val123fs, XP_047289912.1:p.Val123fs, XP_047289908.1:p.Val123fs, XP_047289911.1:p.Val123fs, XP_047289913.1:p.Val123fs

                        12.

                        rs1482186424 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          16:66778959 (GRCh38)
                          16:66812862 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:66778958:G:T
                          Gene:
                          TERB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000016.10:g.66778959G>T, NC_000016.9:g.66812862G>T, XM_011523005.3:c.757C>A, XM_011523005.2:c.757C>A, XM_011523005.1:c.757C>A, XM_011523008.3:c.757C>A, XM_011523008.2:c.757C>A, XM_011523008.1:c.757C>A, XM_011523009.3:c.757C>A, XM_011523009.2:c.757C>A, XM_011523009.1:c.757C>A, XM_011523012.3:c.724C>A, XM_011523012.2:c.724C>A, XM_011523012.1:c.724C>A, NM_001136505.2:c.757C>A, NM_001136505.1:c.757C>A, XM_047433953.1:c.757C>A, XM_047433947.1:c.757C>A, XR_007064867.1:n.983C>A, XM_047433948.1:c.757C>A, XM_047433949.1:c.724C>A, XM_047433946.1:c.757C>A, XM_047433950.1:c.724C>A, XM_047433951.1:c.757C>A, XM_047433956.1:c.757C>A, XM_047433952.1:c.757C>A, NM_173616.1:c.757C>A, XM_047433955.1:c.757C>A, XR_007064868.1:n.983C>A, XM_047433957.1:c.757C>A, XP_011521307.1:p.Leu253Ile, XP_011521310.1:p.Leu253Ile, XP_011521311.1:p.Leu253Ile, XP_011521314.1:p.Leu242Ile, NP_001129977.1:p.Leu253Ile, XP_047289909.1:p.Leu253Ile, XP_047289903.1:p.Leu253Ile, XP_047289904.1:p.Leu253Ile, XP_047289905.1:p.Leu242Ile, XP_047289902.1:p.Leu253Ile, XP_047289906.1:p.Leu242Ile, XP_047289907.1:p.Leu253Ile, XP_047289912.1:p.Leu253Ile, XP_047289908.1:p.Leu253Ile, XP_047289911.1:p.Leu253Ile, XP_047289913.1:p.Leu253Ile

                          13.

                          rs1481922359 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:66759283 (GRCh38)
                            16:66793186 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:66759282:T:C
                            Gene:
                            TERB1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.00004/1 (TOMMO)
                            HGVS:
                            NC_000016.10:g.66759283T>C, NC_000016.9:g.66793186T>C, XM_011523005.3:c.1788A>G, XM_011523005.2:c.1788A>G, XM_011523005.1:c.1788A>G, XM_011523008.3:c.1788A>G, XM_011523008.2:c.1788A>G, XM_011523008.1:c.1788A>G, XM_011523009.3:c.1788A>G, XM_011523009.2:c.1788A>G, XM_011523009.1:c.1788A>G, XM_011523012.3:c.1755A>G, XM_011523012.2:c.1755A>G, XM_011523012.1:c.1755A>G, NM_001136505.2:c.1788A>G, NM_001136505.1:c.1788A>G, XM_047433953.1:c.1788A>G, XM_047433947.1:c.1788A>G, XR_007064867.1:n.2014A>G, XM_047433948.1:c.1788A>G, XM_047433949.1:c.1755A>G, XM_047433946.1:c.1788A>G, XM_047433950.1:c.1755A>G, XM_047433952.1:c.1788A>G, NM_173616.1:c.*70A>G, XP_011521307.1:p.Ile596Met, XP_011521310.1:p.Ile596Met, XP_011521311.1:p.Ile596Met, XP_011521314.1:p.Ile585Met, NP_001129977.1:p.Ile596Met, XP_047289909.1:p.Ile596Met, XP_047289903.1:p.Ile596Met, XP_047289904.1:p.Ile596Met, XP_047289905.1:p.Ile585Met, XP_047289902.1:p.Ile596Met, XP_047289906.1:p.Ile585Met, XP_047289908.1:p.Ile596Met

                            14.

                            rs1481786994 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:66775171 (GRCh38)
                              16:66809074 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:66775170:T:C
                              Gene:
                              TERB1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              C=0.000045/7 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.66775171T>C, NC_000016.9:g.66809074T>C, XM_011523005.3:c.1058A>G, XM_011523005.2:c.1058A>G, XM_011523005.1:c.1058A>G, XM_011523008.3:c.1058A>G, XM_011523008.2:c.1058A>G, XM_011523008.1:c.1058A>G, XM_011523009.3:c.1058A>G, XM_011523009.2:c.1058A>G, XM_011523009.1:c.1058A>G, XM_011523012.3:c.1025A>G, XM_011523012.2:c.1025A>G, XM_011523012.1:c.1025A>G, NM_001136505.2:c.1058A>G, NM_001136505.1:c.1058A>G, XM_047433953.1:c.1058A>G, XM_047433947.1:c.1058A>G, XR_007064867.1:n.1284A>G, XM_047433948.1:c.1058A>G, XM_047433949.1:c.1025A>G, XM_047433946.1:c.1058A>G, XM_047433950.1:c.1025A>G, XM_047433951.1:c.1058A>G, XM_047433956.1:c.1058A>G, XM_047433952.1:c.1058A>G, XM_047433955.1:c.1058A>G, XR_007064868.1:n.1284A>G, XM_047433957.1:c.1058A>G, XP_011521307.1:p.Asn353Ser, XP_011521310.1:p.Asn353Ser, XP_011521311.1:p.Asn353Ser, XP_011521314.1:p.Asn342Ser, NP_001129977.1:p.Asn353Ser, XP_047289909.1:p.Asn353Ser, XP_047289903.1:p.Asn353Ser, XP_047289904.1:p.Asn353Ser, XP_047289905.1:p.Asn342Ser, XP_047289902.1:p.Asn353Ser, XP_047289906.1:p.Asn342Ser, XP_047289907.1:p.Asn353Ser, XP_047289912.1:p.Asn353Ser, XP_047289908.1:p.Asn353Ser, XP_047289911.1:p.Asn353Ser, XP_047289913.1:p.Asn353Ser

                              15.

                              rs1480355281 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                16:66786227 (GRCh38)
                                16:66820130 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:66786226:G:C
                                Gene:
                                TERB1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.66786227G>C, NC_000016.9:g.66820130G>C, XM_011523005.3:c.459C>G, XM_011523005.2:c.459C>G, XM_011523005.1:c.459C>G, XM_011523008.3:c.459C>G, XM_011523008.2:c.459C>G, XM_011523008.1:c.459C>G, XM_011523009.3:c.459C>G, XM_011523009.2:c.459C>G, XM_011523009.1:c.459C>G, XM_011523012.3:c.426C>G, XM_011523012.2:c.426C>G, XM_011523012.1:c.426C>G, NM_001136505.2:c.459C>G, NM_001136505.1:c.459C>G, XM_047433953.1:c.459C>G, XM_047433947.1:c.459C>G, XR_007064867.1:n.685C>G, XM_047433948.1:c.459C>G, XM_047433949.1:c.426C>G, XM_047433946.1:c.459C>G, XM_047433950.1:c.426C>G, XM_047433951.1:c.459C>G, XM_047433956.1:c.459C>G, XM_047433952.1:c.459C>G, NM_173616.1:c.459C>G, XM_047433955.1:c.459C>G, XR_007064868.1:n.685C>G, XM_047433957.1:c.459C>G, XP_011521307.1:p.Phe153Leu, XP_011521310.1:p.Phe153Leu, XP_011521311.1:p.Phe153Leu, XP_011521314.1:p.Phe142Leu, NP_001129977.1:p.Phe153Leu, XP_047289909.1:p.Phe153Leu, XP_047289903.1:p.Phe153Leu, XP_047289904.1:p.Phe153Leu, XP_047289905.1:p.Phe142Leu, XP_047289902.1:p.Phe153Leu, XP_047289906.1:p.Phe142Leu, XP_047289907.1:p.Phe153Leu, XP_047289912.1:p.Phe153Leu, XP_047289908.1:p.Phe153Leu, XP_047289911.1:p.Phe153Leu, XP_047289913.1:p.Phe153Leu

                                16.

                                rs1480273644 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  16:66777281 (GRCh38)
                                  16:66811184 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:66777280:A:G
                                  Gene:
                                  TERB1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000006/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1477995374 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    16:66790704 (GRCh38)
                                    16:66824607 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:66790703:A:C
                                    Gene:
                                    TERB1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.66790704A>C, NC_000016.9:g.66824607A>C, XM_011523005.3:c.162T>G, XM_011523005.2:c.162T>G, XM_011523005.1:c.162T>G, XM_011523008.3:c.162T>G, XM_011523008.2:c.162T>G, XM_011523008.1:c.162T>G, XM_011523009.3:c.162T>G, XM_011523009.2:c.162T>G, XM_011523009.1:c.162T>G, XM_011523012.3:c.129T>G, XM_011523012.2:c.129T>G, XM_011523012.1:c.129T>G, NM_001136505.2:c.162T>G, NM_001136505.1:c.162T>G, XM_047433953.1:c.162T>G, XM_047433947.1:c.162T>G, XR_007064867.1:n.388T>G, XM_047433948.1:c.162T>G, XM_047433949.1:c.129T>G, XM_047433946.1:c.162T>G, XM_047433950.1:c.129T>G, XM_047433951.1:c.162T>G, XM_047433956.1:c.162T>G, XM_047433952.1:c.162T>G, NM_173616.1:c.162T>G, XM_047433955.1:c.162T>G, XR_007064868.1:n.388T>G, XM_047433957.1:c.162T>G, XP_011521307.1:p.Phe54Leu, XP_011521310.1:p.Phe54Leu, XP_011521311.1:p.Phe54Leu, XP_011521314.1:p.Phe43Leu, NP_001129977.1:p.Phe54Leu, XP_047289909.1:p.Phe54Leu, XP_047289903.1:p.Phe54Leu, XP_047289904.1:p.Phe54Leu, XP_047289905.1:p.Phe43Leu, XP_047289902.1:p.Phe54Leu, XP_047289906.1:p.Phe43Leu, XP_047289907.1:p.Phe54Leu, XP_047289912.1:p.Phe54Leu, XP_047289908.1:p.Phe54Leu, XP_047289911.1:p.Phe54Leu, XP_047289913.1:p.Phe54Leu

                                    18.

                                    rs1477309930 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      16:66785903 (GRCh38)
                                      16:66819806 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:66785902:T:C,NC_000016.10:66785902:T:G
                                      Gene:
                                      TERB1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      C=0.000007/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.66785903T>C, NC_000016.10:g.66785903T>G, NC_000016.9:g.66819806T>C, NC_000016.9:g.66819806T>G, XM_011523005.3:c.583A>G, XM_011523005.3:c.583A>C, XM_011523005.2:c.583A>G, XM_011523005.2:c.583A>C, XM_011523005.1:c.583A>G, XM_011523005.1:c.583A>C, XM_011523008.3:c.583A>G, XM_011523008.3:c.583A>C, XM_011523008.2:c.583A>G, XM_011523008.2:c.583A>C, XM_011523008.1:c.583A>G, XM_011523008.1:c.583A>C, XM_011523009.3:c.583A>G, XM_011523009.3:c.583A>C, XM_011523009.2:c.583A>G, XM_011523009.2:c.583A>C, XM_011523009.1:c.583A>G, XM_011523009.1:c.583A>C, XM_011523012.3:c.550A>G, XM_011523012.3:c.550A>C, XM_011523012.2:c.550A>G, XM_011523012.2:c.550A>C, XM_011523012.1:c.550A>G, XM_011523012.1:c.550A>C, NM_001136505.2:c.583A>G, NM_001136505.2:c.583A>C, NM_001136505.1:c.583A>G, NM_001136505.1:c.583A>C, XM_047433953.1:c.583A>G, XM_047433953.1:c.583A>C, XM_047433947.1:c.583A>G, XM_047433947.1:c.583A>C, XR_007064867.1:n.809A>G, XR_007064867.1:n.809A>C, XM_047433948.1:c.583A>G, XM_047433948.1:c.583A>C, XM_047433949.1:c.550A>G, XM_047433949.1:c.550A>C, XM_047433946.1:c.583A>G, XM_047433946.1:c.583A>C, XM_047433950.1:c.550A>G, XM_047433950.1:c.550A>C, XM_047433951.1:c.583A>G, XM_047433951.1:c.583A>C, XM_047433956.1:c.583A>G, XM_047433956.1:c.583A>C, XM_047433952.1:c.583A>G, XM_047433952.1:c.583A>C, NM_173616.1:c.583A>G, NM_173616.1:c.583A>C, XM_047433955.1:c.583A>G, XM_047433955.1:c.583A>C, XR_007064868.1:n.809A>G, XR_007064868.1:n.809A>C, XM_047433957.1:c.583A>G, XM_047433957.1:c.583A>C, XP_011521307.1:p.Asn195Asp, XP_011521307.1:p.Asn195His, XP_011521310.1:p.Asn195Asp, XP_011521310.1:p.Asn195His, XP_011521311.1:p.Asn195Asp, XP_011521311.1:p.Asn195His, XP_011521314.1:p.Asn184Asp, XP_011521314.1:p.Asn184His, NP_001129977.1:p.Asn195Asp, NP_001129977.1:p.Asn195His, XP_047289909.1:p.Asn195Asp, XP_047289909.1:p.Asn195His, XP_047289903.1:p.Asn195Asp, XP_047289903.1:p.Asn195His, XP_047289904.1:p.Asn195Asp, XP_047289904.1:p.Asn195His, XP_047289905.1:p.Asn184Asp, XP_047289905.1:p.Asn184His, XP_047289902.1:p.Asn195Asp, XP_047289902.1:p.Asn195His, XP_047289906.1:p.Asn184Asp, XP_047289906.1:p.Asn184His, XP_047289907.1:p.Asn195Asp, XP_047289907.1:p.Asn195His, XP_047289912.1:p.Asn195Asp, XP_047289912.1:p.Asn195His, XP_047289908.1:p.Asn195Asp, XP_047289908.1:p.Asn195His, XP_047289911.1:p.Asn195Asp, XP_047289911.1:p.Asn195His, XP_047289913.1:p.Asn195Asp, XP_047289913.1:p.Asn195His

                                      19.

                                      rs1476862679 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        16:66759209 (GRCh38)
                                        16:66793112 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:66759208:T:A
                                        Gene:
                                        TERB1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.66759209T>A, NC_000016.9:g.66793112T>A, XM_011523005.3:c.1862A>T, XM_011523005.2:c.1862A>T, XM_011523005.1:c.1862A>T, XM_011523008.3:c.1862A>T, XM_011523008.2:c.1862A>T, XM_011523008.1:c.1862A>T, XM_011523009.3:c.1862A>T, XM_011523009.2:c.1862A>T, XM_011523009.1:c.1862A>T, XM_011523012.3:c.1829A>T, XM_011523012.2:c.1829A>T, XM_011523012.1:c.1829A>T, NM_001136505.2:c.1862A>T, NM_001136505.1:c.1862A>T, XM_047433953.1:c.1862A>T, XM_047433947.1:c.1862A>T, XR_007064867.1:n.2088A>T, XM_047433948.1:c.1862A>T, XM_047433949.1:c.1829A>T, XM_047433946.1:c.1862A>T, XM_047433950.1:c.1829A>T, XM_047433952.1:c.1862A>T, NM_173616.1:c.*144A>T, XP_011521307.1:p.His621Leu, XP_011521310.1:p.His621Leu, XP_011521311.1:p.His621Leu, XP_011521314.1:p.His610Leu, NP_001129977.1:p.His621Leu, XP_047289909.1:p.His621Leu, XP_047289903.1:p.His621Leu, XP_047289904.1:p.His621Leu, XP_047289905.1:p.His610Leu, XP_047289902.1:p.His621Leu, XP_047289906.1:p.His610Leu, XP_047289908.1:p.His621Leu

                                        20.

                                        rs1476366030 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          16:66790624 (GRCh38)
                                          16:66824527 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:66790623:T:A
                                          Gene:
                                          TERB1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.66790624T>A, NC_000016.9:g.66824527T>A, XM_011523005.3:c.242A>T, XM_011523005.2:c.242A>T, XM_011523005.1:c.242A>T, XM_011523008.3:c.242A>T, XM_011523008.2:c.242A>T, XM_011523008.1:c.242A>T, XM_011523009.3:c.242A>T, XM_011523009.2:c.242A>T, XM_011523009.1:c.242A>T, XM_011523012.3:c.209A>T, XM_011523012.2:c.209A>T, XM_011523012.1:c.209A>T, NM_001136505.2:c.242A>T, NM_001136505.1:c.242A>T, XM_047433953.1:c.242A>T, XM_047433947.1:c.242A>T, XR_007064867.1:n.468A>T, XM_047433948.1:c.242A>T, XM_047433949.1:c.209A>T, XM_047433946.1:c.242A>T, XM_047433950.1:c.209A>T, XM_047433951.1:c.242A>T, XM_047433956.1:c.242A>T, XM_047433952.1:c.242A>T, NM_173616.1:c.242A>T, XM_047433955.1:c.242A>T, XR_007064868.1:n.468A>T, XM_047433957.1:c.242A>T, XP_011521307.1:p.Tyr81Phe, XP_011521310.1:p.Tyr81Phe, XP_011521311.1:p.Tyr81Phe, XP_011521314.1:p.Tyr70Phe, NP_001129977.1:p.Tyr81Phe, XP_047289909.1:p.Tyr81Phe, XP_047289903.1:p.Tyr81Phe, XP_047289904.1:p.Tyr81Phe, XP_047289905.1:p.Tyr70Phe, XP_047289902.1:p.Tyr81Phe, XP_047289906.1:p.Tyr70Phe, XP_047289907.1:p.Tyr81Phe, XP_047289912.1:p.Tyr81Phe, XP_047289908.1:p.Tyr81Phe, XP_047289911.1:p.Tyr81Phe, XP_047289913.1:p.Tyr81Phe

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