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Links from Protein

Items: 1 to 20 of 327

1.

rs1491009041 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    1:40514786 (GRCh38)
    1:40980459 (GRCh37)
    Canonical SPDI:
    NC_000001.11:40514786:A:AA
    Gene:
    EXO5 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    HGVS:
    NC_000001.11:g.40514787dup, NC_000001.10:g.40980459dup, XM_017002102.3:c.243dup, XM_017002102.2:c.243dup, XM_017002102.1:c.243dup, XM_017002099.3:c.243dup, XM_017002099.2:c.243dup, XM_017002099.1:c.243dup, NM_022774.3:c.243dup, NM_022774.2:c.243dup, NM_022774.1:c.243dup, NM_001346946.2:c.243dup, NM_001346946.1:c.243dup, NM_001346953.2:c.243dup, NM_001346953.1:c.243dup, NM_001346947.2:c.243dup, NM_001346947.1:c.243dup, NM_001346950.2:c.243dup, NM_001346950.1:c.243dup, NM_001346949.2:c.243dup, NM_001346949.1:c.243dup, NM_001346955.2:c.243dup, NM_001346955.1:c.243dup, NM_001346951.2:c.243dup, NM_001346951.1:c.243dup, NM_001346952.2:c.243dup, NM_001346952.1:c.243dup, NM_001346954.2:c.243dup, NM_001346954.1:c.243dup, NM_001346956.2:c.243dup, NM_001346956.1:c.243dup, NM_001346948.2:c.243dup, NM_001346948.1:c.243dup, XP_016857591.1:p.Tyr82fs, XP_016857588.1:p.Tyr82fs, NP_073611.1:p.Tyr82fs, NP_001333875.1:p.Tyr82fs, NP_001333882.1:p.Tyr82fs, NP_001333876.1:p.Tyr82fs, NP_001333879.1:p.Tyr82fs, NP_001333878.1:p.Tyr82fs, NP_001333884.1:p.Tyr82fs, NP_001333880.1:p.Tyr82fs, NP_001333881.1:p.Tyr82fs, NP_001333883.1:p.Tyr82fs, NP_001333885.1:p.Tyr82fs, NP_001333877.1:p.Tyr82fs

    2.

    rs1490964905 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:40515439 (GRCh38)
      1:40981111 (GRCh37)
      Canonical SPDI:
      NC_000001.11:40515438:A:G
      Gene:
      EXO5 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000012/3 (GnomAD_exomes)
      G=0.000014/2 (GnomAD)
      G=0.000023/6 (TOPMED)
      HGVS:
      NC_000001.11:g.40515439A>G, NC_000001.10:g.40981111A>G, XM_017002102.3:c.895A>G, XM_017002102.2:c.895A>G, XM_017002102.1:c.895A>G, XM_017002099.3:c.895A>G, XM_017002099.2:c.895A>G, XM_017002099.1:c.895A>G, NM_022774.3:c.895A>G, NM_022774.2:c.895A>G, NM_022774.1:c.895A>G, NM_001346946.2:c.895A>G, NM_001346946.1:c.895A>G, NM_001346953.2:c.895A>G, NM_001346953.1:c.895A>G, NM_001346947.2:c.895A>G, NM_001346947.1:c.895A>G, NM_001346950.2:c.895A>G, NM_001346950.1:c.895A>G, NM_001346949.2:c.895A>G, NM_001346949.1:c.895A>G, NM_001346955.2:c.895A>G, NM_001346955.1:c.895A>G, NM_001346951.2:c.895A>G, NM_001346951.1:c.895A>G, NM_001346952.2:c.895A>G, NM_001346952.1:c.895A>G, NM_001346954.2:c.895A>G, NM_001346954.1:c.895A>G, NM_001346956.2:c.895A>G, NM_001346956.1:c.895A>G, NM_001346948.2:c.895A>G, NM_001346948.1:c.895A>G, XP_016857591.1:p.Thr299Ala, XP_016857588.1:p.Thr299Ala, NP_073611.1:p.Thr299Ala, NP_001333875.1:p.Thr299Ala, NP_001333882.1:p.Thr299Ala, NP_001333876.1:p.Thr299Ala, NP_001333879.1:p.Thr299Ala, NP_001333878.1:p.Thr299Ala, NP_001333884.1:p.Thr299Ala, NP_001333880.1:p.Thr299Ala, NP_001333881.1:p.Thr299Ala, NP_001333883.1:p.Thr299Ala, NP_001333885.1:p.Thr299Ala, NP_001333877.1:p.Thr299Ala

      3.

      rs1488951232 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:40514756 (GRCh38)
        1:40980428 (GRCh37)
        Canonical SPDI:
        NC_000001.11:40514755:C:T
        Gene:
        EXO5 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.40514756C>T, NC_000001.10:g.40980428C>T, XM_017002102.3:c.212C>T, XM_017002102.2:c.212C>T, XM_017002102.1:c.212C>T, XM_017002099.3:c.212C>T, XM_017002099.2:c.212C>T, XM_017002099.1:c.212C>T, NM_022774.3:c.212C>T, NM_022774.2:c.212C>T, NM_022774.1:c.212C>T, NM_001346946.2:c.212C>T, NM_001346946.1:c.212C>T, NM_001346953.2:c.212C>T, NM_001346953.1:c.212C>T, NM_001346947.2:c.212C>T, NM_001346947.1:c.212C>T, NM_001346950.2:c.212C>T, NM_001346950.1:c.212C>T, NM_001346949.2:c.212C>T, NM_001346949.1:c.212C>T, NM_001346955.2:c.212C>T, NM_001346955.1:c.212C>T, NM_001346951.2:c.212C>T, NM_001346951.1:c.212C>T, NM_001346952.2:c.212C>T, NM_001346952.1:c.212C>T, NM_001346954.2:c.212C>T, NM_001346954.1:c.212C>T, NM_001346956.2:c.212C>T, NM_001346956.1:c.212C>T, NM_001346948.2:c.212C>T, NM_001346948.1:c.212C>T, XP_016857591.1:p.Ser71Leu, XP_016857588.1:p.Ser71Leu, NP_073611.1:p.Ser71Leu, NP_001333875.1:p.Ser71Leu, NP_001333882.1:p.Ser71Leu, NP_001333876.1:p.Ser71Leu, NP_001333879.1:p.Ser71Leu, NP_001333878.1:p.Ser71Leu, NP_001333884.1:p.Ser71Leu, NP_001333880.1:p.Ser71Leu, NP_001333881.1:p.Ser71Leu, NP_001333883.1:p.Ser71Leu, NP_001333885.1:p.Ser71Leu, NP_001333877.1:p.Ser71Leu

        4.

        rs1481616951 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GGTG>- [Show Flanks]
          Chromosome:
          1:40515349 (GRCh38)
          1:40981021 (GRCh37)
          Canonical SPDI:
          NC_000001.11:40515346:TGGGTG:TG
          Gene:
          EXO5 (Varview)
          Functional Consequence:
          coding_sequence_variant,frameshift_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TG=0.000174/4 (ALFA)
          -=0.000008/2 (GnomAD_exomes)
          -=0.000015/4 (TOPMED)
          -=0.000021/3 (GnomAD)
          HGVS:
          NC_000001.11:g.40515349_40515352del, NC_000001.10:g.40981021_40981024del, XM_017002102.3:c.805_808del, XM_017002102.2:c.805_808del, XM_017002102.1:c.805_808del, XM_017002099.3:c.805_808del, XM_017002099.2:c.805_808del, XM_017002099.1:c.805_808del, NM_022774.3:c.805_808del, NM_022774.2:c.805_808del, NM_022774.1:c.805_808del, NM_001346946.2:c.805_808del, NM_001346946.1:c.805_808del, NM_001346953.2:c.805_808del, NM_001346953.1:c.805_808del, NM_001346947.2:c.805_808del, NM_001346947.1:c.805_808del, NM_001346950.2:c.805_808del, NM_001346950.1:c.805_808del, NM_001346949.2:c.805_808del, NM_001346949.1:c.805_808del, NM_001346955.2:c.805_808del, NM_001346955.1:c.805_808del, NM_001346951.2:c.805_808del, NM_001346951.1:c.805_808del, NM_001346952.2:c.805_808del, NM_001346952.1:c.805_808del, NM_001346954.2:c.805_808del, NM_001346954.1:c.805_808del, NM_001346956.2:c.805_808del, NM_001346956.1:c.805_808del, NM_001346948.2:c.805_808del, NM_001346948.1:c.805_808del, XP_016857591.1:p.Gly269fs, XP_016857588.1:p.Gly269fs, NP_073611.1:p.Gly269fs, NP_001333875.1:p.Gly269fs, NP_001333882.1:p.Gly269fs, NP_001333876.1:p.Gly269fs, NP_001333879.1:p.Gly269fs, NP_001333878.1:p.Gly269fs, NP_001333884.1:p.Gly269fs, NP_001333880.1:p.Gly269fs, NP_001333881.1:p.Gly269fs, NP_001333883.1:p.Gly269fs, NP_001333885.1:p.Gly269fs, NP_001333877.1:p.Gly269fs

          5.

          rs1480625903 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            1:40514988 (GRCh38)
            1:40980660 (GRCh37)
            Canonical SPDI:
            NC_000001.11:40514987:G:A,NC_000001.11:40514987:G:C
            Gene:
            EXO5 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000031/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.40514988G>A, NC_000001.11:g.40514988G>C, NC_000001.10:g.40980660G>A, NC_000001.10:g.40980660G>C, XM_017002102.3:c.444G>A, XM_017002102.3:c.444G>C, XM_017002102.2:c.444G>A, XM_017002102.2:c.444G>C, XM_017002102.1:c.444G>A, XM_017002102.1:c.444G>C, XM_017002099.3:c.444G>A, XM_017002099.3:c.444G>C, XM_017002099.2:c.444G>A, XM_017002099.2:c.444G>C, XM_017002099.1:c.444G>A, XM_017002099.1:c.444G>C, NM_022774.3:c.444G>A, NM_022774.3:c.444G>C, NM_022774.2:c.444G>A, NM_022774.2:c.444G>C, NM_022774.1:c.444G>A, NM_022774.1:c.444G>C, NM_001346946.2:c.444G>A, NM_001346946.2:c.444G>C, NM_001346946.1:c.444G>A, NM_001346946.1:c.444G>C, NM_001346953.2:c.444G>A, NM_001346953.2:c.444G>C, NM_001346953.1:c.444G>A, NM_001346953.1:c.444G>C, NM_001346947.2:c.444G>A, NM_001346947.2:c.444G>C, NM_001346947.1:c.444G>A, NM_001346947.1:c.444G>C, NM_001346950.2:c.444G>A, NM_001346950.2:c.444G>C, NM_001346950.1:c.444G>A, NM_001346950.1:c.444G>C, NM_001346949.2:c.444G>A, NM_001346949.2:c.444G>C, NM_001346949.1:c.444G>A, NM_001346949.1:c.444G>C, NM_001346955.2:c.444G>A, NM_001346955.2:c.444G>C, NM_001346955.1:c.444G>A, NM_001346955.1:c.444G>C, NM_001346951.2:c.444G>A, NM_001346951.2:c.444G>C, NM_001346951.1:c.444G>A, NM_001346951.1:c.444G>C, NM_001346952.2:c.444G>A, NM_001346952.2:c.444G>C, NM_001346952.1:c.444G>A, NM_001346952.1:c.444G>C, NM_001346954.2:c.444G>A, NM_001346954.2:c.444G>C, NM_001346954.1:c.444G>A, NM_001346954.1:c.444G>C, NM_001346956.2:c.444G>A, NM_001346956.2:c.444G>C, NM_001346956.1:c.444G>A, NM_001346956.1:c.444G>C, NM_001346948.2:c.444G>A, NM_001346948.2:c.444G>C, NM_001346948.1:c.444G>A, NM_001346948.1:c.444G>C

            6.

            rs1480279788 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:40514973 (GRCh38)
              1:40980645 (GRCh37)
              Canonical SPDI:
              NC_000001.11:40514972:G:A
              Gene:
              EXO5 (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000111/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.40514973G>A, NC_000001.10:g.40980645G>A, XM_017002102.3:c.429G>A, XM_017002102.2:c.429G>A, XM_017002102.1:c.429G>A, XM_017002099.3:c.429G>A, XM_017002099.2:c.429G>A, XM_017002099.1:c.429G>A, NM_022774.3:c.429G>A, NM_022774.2:c.429G>A, NM_022774.1:c.429G>A, NM_001346946.2:c.429G>A, NM_001346946.1:c.429G>A, NM_001346953.2:c.429G>A, NM_001346953.1:c.429G>A, NM_001346947.2:c.429G>A, NM_001346947.1:c.429G>A, NM_001346950.2:c.429G>A, NM_001346950.1:c.429G>A, NM_001346949.2:c.429G>A, NM_001346949.1:c.429G>A, NM_001346955.2:c.429G>A, NM_001346955.1:c.429G>A, NM_001346951.2:c.429G>A, NM_001346951.1:c.429G>A, NM_001346952.2:c.429G>A, NM_001346952.1:c.429G>A, NM_001346954.2:c.429G>A, NM_001346954.1:c.429G>A, NM_001346956.2:c.429G>A, NM_001346956.1:c.429G>A, NM_001346948.2:c.429G>A, NM_001346948.1:c.429G>A, XP_016857591.1:p.Trp143Ter, XP_016857588.1:p.Trp143Ter, NP_073611.1:p.Trp143Ter, NP_001333875.1:p.Trp143Ter, NP_001333882.1:p.Trp143Ter, NP_001333876.1:p.Trp143Ter, NP_001333879.1:p.Trp143Ter, NP_001333878.1:p.Trp143Ter, NP_001333884.1:p.Trp143Ter, NP_001333880.1:p.Trp143Ter, NP_001333881.1:p.Trp143Ter, NP_001333883.1:p.Trp143Ter, NP_001333885.1:p.Trp143Ter, NP_001333877.1:p.Trp143Ter

              7.

              rs1478134340 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:40514680 (GRCh38)
                1:40980352 (GRCh37)
                Canonical SPDI:
                NC_000001.11:40514679:C:T
                Gene:
                EXO5 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.40514680C>T, NC_000001.10:g.40980352C>T, XM_017002102.3:c.136C>T, XM_017002102.2:c.136C>T, XM_017002102.1:c.136C>T, XM_017002099.3:c.136C>T, XM_017002099.2:c.136C>T, XM_017002099.1:c.136C>T, NM_022774.3:c.136C>T, NM_022774.2:c.136C>T, NM_022774.1:c.136C>T, NM_001346946.2:c.136C>T, NM_001346946.1:c.136C>T, NM_001346953.2:c.136C>T, NM_001346953.1:c.136C>T, NM_001346947.2:c.136C>T, NM_001346947.1:c.136C>T, NM_001346950.2:c.136C>T, NM_001346950.1:c.136C>T, NM_001346949.2:c.136C>T, NM_001346949.1:c.136C>T, NM_001346955.2:c.136C>T, NM_001346955.1:c.136C>T, NM_001346951.2:c.136C>T, NM_001346951.1:c.136C>T, NM_001346952.2:c.136C>T, NM_001346952.1:c.136C>T, NM_001346954.2:c.136C>T, NM_001346954.1:c.136C>T, NM_001346956.2:c.136C>T, NM_001346956.1:c.136C>T, NM_001346948.2:c.136C>T, NM_001346948.1:c.136C>T, XP_016857591.1:p.Pro46Ser, XP_016857588.1:p.Pro46Ser, NP_073611.1:p.Pro46Ser, NP_001333875.1:p.Pro46Ser, NP_001333882.1:p.Pro46Ser, NP_001333876.1:p.Pro46Ser, NP_001333879.1:p.Pro46Ser, NP_001333878.1:p.Pro46Ser, NP_001333884.1:p.Pro46Ser, NP_001333880.1:p.Pro46Ser, NP_001333881.1:p.Pro46Ser, NP_001333883.1:p.Pro46Ser, NP_001333885.1:p.Pro46Ser, NP_001333877.1:p.Pro46Ser

                8.

                rs1470441847 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  1:40514905 (GRCh38)
                  1:40980577 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:40514904:C:G,NC_000001.11:40514904:C:T
                  Gene:
                  EXO5 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000094/1 (ALFA)
                  G=0./0 (KOREAN)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000001.11:g.40514905C>G, NC_000001.11:g.40514905C>T, NC_000001.10:g.40980577C>G, NC_000001.10:g.40980577C>T, XM_017002102.3:c.361C>G, XM_017002102.3:c.361C>T, XM_017002102.2:c.361C>G, XM_017002102.2:c.361C>T, XM_017002102.1:c.361C>G, XM_017002102.1:c.361C>T, XM_017002099.3:c.361C>G, XM_017002099.3:c.361C>T, XM_017002099.2:c.361C>G, XM_017002099.2:c.361C>T, XM_017002099.1:c.361C>G, XM_017002099.1:c.361C>T, NM_022774.3:c.361C>G, NM_022774.3:c.361C>T, NM_022774.2:c.361C>G, NM_022774.2:c.361C>T, NM_022774.1:c.361C>G, NM_022774.1:c.361C>T, NM_001346946.2:c.361C>G, NM_001346946.2:c.361C>T, NM_001346946.1:c.361C>G, NM_001346946.1:c.361C>T, NM_001346953.2:c.361C>G, NM_001346953.2:c.361C>T, NM_001346953.1:c.361C>G, NM_001346953.1:c.361C>T, NM_001346947.2:c.361C>G, NM_001346947.2:c.361C>T, NM_001346947.1:c.361C>G, NM_001346947.1:c.361C>T, NM_001346950.2:c.361C>G, NM_001346950.2:c.361C>T, NM_001346950.1:c.361C>G, NM_001346950.1:c.361C>T, NM_001346949.2:c.361C>G, NM_001346949.2:c.361C>T, NM_001346949.1:c.361C>G, NM_001346949.1:c.361C>T, NM_001346955.2:c.361C>G, NM_001346955.2:c.361C>T, NM_001346955.1:c.361C>G, NM_001346955.1:c.361C>T, NM_001346951.2:c.361C>G, NM_001346951.2:c.361C>T, NM_001346951.1:c.361C>G, NM_001346951.1:c.361C>T, NM_001346952.2:c.361C>G, NM_001346952.2:c.361C>T, NM_001346952.1:c.361C>G, NM_001346952.1:c.361C>T, NM_001346954.2:c.361C>G, NM_001346954.2:c.361C>T, NM_001346954.1:c.361C>G, NM_001346954.1:c.361C>T, NM_001346956.2:c.361C>G, NM_001346956.2:c.361C>T, NM_001346956.1:c.361C>G, NM_001346956.1:c.361C>T, NM_001346948.2:c.361C>G, NM_001346948.2:c.361C>T, NM_001346948.1:c.361C>G, NM_001346948.1:c.361C>T, XP_016857591.1:p.His121Asp, XP_016857591.1:p.His121Tyr, XP_016857588.1:p.His121Asp, XP_016857588.1:p.His121Tyr, NP_073611.1:p.His121Asp, NP_073611.1:p.His121Tyr, NP_001333875.1:p.His121Asp, NP_001333875.1:p.His121Tyr, NP_001333882.1:p.His121Asp, NP_001333882.1:p.His121Tyr, NP_001333876.1:p.His121Asp, NP_001333876.1:p.His121Tyr, NP_001333879.1:p.His121Asp, NP_001333879.1:p.His121Tyr, NP_001333878.1:p.His121Asp, NP_001333878.1:p.His121Tyr, NP_001333884.1:p.His121Asp, NP_001333884.1:p.His121Tyr, NP_001333880.1:p.His121Asp, NP_001333880.1:p.His121Tyr, NP_001333881.1:p.His121Asp, NP_001333881.1:p.His121Tyr, NP_001333883.1:p.His121Asp, NP_001333883.1:p.His121Tyr, NP_001333885.1:p.His121Asp, NP_001333885.1:p.His121Tyr, NP_001333877.1:p.His121Asp, NP_001333877.1:p.His121Tyr

                  9.

                  rs1461862975 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:40515278 (GRCh38)
                    1:40980950 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:40515277:G:A
                    Gene:
                    EXO5 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    A=0.000043/6 (GnomAD)
                    HGVS:
                    NC_000001.11:g.40515278G>A, NC_000001.10:g.40980950G>A, XM_017002102.3:c.734G>A, XM_017002102.2:c.734G>A, XM_017002102.1:c.734G>A, XM_017002099.3:c.734G>A, XM_017002099.2:c.734G>A, XM_017002099.1:c.734G>A, NM_022774.3:c.734G>A, NM_022774.2:c.734G>A, NM_022774.1:c.734G>A, NM_001346946.2:c.734G>A, NM_001346946.1:c.734G>A, NM_001346953.2:c.734G>A, NM_001346953.1:c.734G>A, NM_001346947.2:c.734G>A, NM_001346947.1:c.734G>A, NM_001346950.2:c.734G>A, NM_001346950.1:c.734G>A, NM_001346949.2:c.734G>A, NM_001346949.1:c.734G>A, NM_001346955.2:c.734G>A, NM_001346955.1:c.734G>A, NM_001346951.2:c.734G>A, NM_001346951.1:c.734G>A, NM_001346952.2:c.734G>A, NM_001346952.1:c.734G>A, NM_001346954.2:c.734G>A, NM_001346954.1:c.734G>A, NM_001346956.2:c.734G>A, NM_001346956.1:c.734G>A, NM_001346948.2:c.734G>A, NM_001346948.1:c.734G>A, XP_016857591.1:p.Cys245Tyr, XP_016857588.1:p.Cys245Tyr, NP_073611.1:p.Cys245Tyr, NP_001333875.1:p.Cys245Tyr, NP_001333882.1:p.Cys245Tyr, NP_001333876.1:p.Cys245Tyr, NP_001333879.1:p.Cys245Tyr, NP_001333878.1:p.Cys245Tyr, NP_001333884.1:p.Cys245Tyr, NP_001333880.1:p.Cys245Tyr, NP_001333881.1:p.Cys245Tyr, NP_001333883.1:p.Cys245Tyr, NP_001333885.1:p.Cys245Tyr, NP_001333877.1:p.Cys245Tyr

                    10.

                    rs1460978611 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      1:40515323 (GRCh38)
                      1:40980995 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:40515322:A:T
                      Gene:
                      EXO5 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.40515323A>T, NC_000001.10:g.40980995A>T, XM_017002102.3:c.779A>T, XM_017002102.2:c.779A>T, XM_017002102.1:c.779A>T, XM_017002099.3:c.779A>T, XM_017002099.2:c.779A>T, XM_017002099.1:c.779A>T, NM_022774.3:c.779A>T, NM_022774.2:c.779A>T, NM_022774.1:c.779A>T, NM_001346946.2:c.779A>T, NM_001346946.1:c.779A>T, NM_001346953.2:c.779A>T, NM_001346953.1:c.779A>T, NM_001346947.2:c.779A>T, NM_001346947.1:c.779A>T, NM_001346950.2:c.779A>T, NM_001346950.1:c.779A>T, NM_001346949.2:c.779A>T, NM_001346949.1:c.779A>T, NM_001346955.2:c.779A>T, NM_001346955.1:c.779A>T, NM_001346951.2:c.779A>T, NM_001346951.1:c.779A>T, NM_001346952.2:c.779A>T, NM_001346952.1:c.779A>T, NM_001346954.2:c.779A>T, NM_001346954.1:c.779A>T, NM_001346956.2:c.779A>T, NM_001346956.1:c.779A>T, NM_001346948.2:c.779A>T, NM_001346948.1:c.779A>T, XP_016857591.1:p.Gln260Leu, XP_016857588.1:p.Gln260Leu, NP_073611.1:p.Gln260Leu, NP_001333875.1:p.Gln260Leu, NP_001333882.1:p.Gln260Leu, NP_001333876.1:p.Gln260Leu, NP_001333879.1:p.Gln260Leu, NP_001333878.1:p.Gln260Leu, NP_001333884.1:p.Gln260Leu, NP_001333880.1:p.Gln260Leu, NP_001333881.1:p.Gln260Leu, NP_001333883.1:p.Gln260Leu, NP_001333885.1:p.Gln260Leu, NP_001333877.1:p.Gln260Leu

                      11.

                      rs1459641800 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        1:40514967 (GRCh38)
                        1:40980639 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:40514966:T:G
                        Gene:
                        EXO5 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000048/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.40514967T>G, NC_000001.10:g.40980639T>G, XM_017002102.3:c.423T>G, XM_017002102.2:c.423T>G, XM_017002102.1:c.423T>G, XM_017002099.3:c.423T>G, XM_017002099.2:c.423T>G, XM_017002099.1:c.423T>G, NM_022774.3:c.423T>G, NM_022774.2:c.423T>G, NM_022774.1:c.423T>G, NM_001346946.2:c.423T>G, NM_001346946.1:c.423T>G, NM_001346953.2:c.423T>G, NM_001346953.1:c.423T>G, NM_001346947.2:c.423T>G, NM_001346947.1:c.423T>G, NM_001346950.2:c.423T>G, NM_001346950.1:c.423T>G, NM_001346949.2:c.423T>G, NM_001346949.1:c.423T>G, NM_001346955.2:c.423T>G, NM_001346955.1:c.423T>G, NM_001346951.2:c.423T>G, NM_001346951.1:c.423T>G, NM_001346952.2:c.423T>G, NM_001346952.1:c.423T>G, NM_001346954.2:c.423T>G, NM_001346954.1:c.423T>G, NM_001346956.2:c.423T>G, NM_001346956.1:c.423T>G, NM_001346948.2:c.423T>G, NM_001346948.1:c.423T>G, XP_016857591.1:p.Asp141Glu, XP_016857588.1:p.Asp141Glu, NP_073611.1:p.Asp141Glu, NP_001333875.1:p.Asp141Glu, NP_001333882.1:p.Asp141Glu, NP_001333876.1:p.Asp141Glu, NP_001333879.1:p.Asp141Glu, NP_001333878.1:p.Asp141Glu, NP_001333884.1:p.Asp141Glu, NP_001333880.1:p.Asp141Glu, NP_001333881.1:p.Asp141Glu, NP_001333883.1:p.Asp141Glu, NP_001333885.1:p.Asp141Glu, NP_001333877.1:p.Asp141Glu

                        12.

                        rs1459256171 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:40515070 (GRCh38)
                          1:40980742 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:40515069:C:T
                          Gene:
                          EXO5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000001.11:g.40515070C>T, NC_000001.10:g.40980742C>T, XM_017002102.3:c.526C>T, XM_017002102.2:c.526C>T, XM_017002102.1:c.526C>T, XM_017002099.3:c.526C>T, XM_017002099.2:c.526C>T, XM_017002099.1:c.526C>T, NM_022774.3:c.526C>T, NM_022774.2:c.526C>T, NM_022774.1:c.526C>T, NM_001346946.2:c.526C>T, NM_001346946.1:c.526C>T, NM_001346953.2:c.526C>T, NM_001346953.1:c.526C>T, NM_001346947.2:c.526C>T, NM_001346947.1:c.526C>T, NM_001346950.2:c.526C>T, NM_001346950.1:c.526C>T, NM_001346949.2:c.526C>T, NM_001346949.1:c.526C>T, NM_001346955.2:c.526C>T, NM_001346955.1:c.526C>T, NM_001346951.2:c.526C>T, NM_001346951.1:c.526C>T, NM_001346952.2:c.526C>T, NM_001346952.1:c.526C>T, NM_001346954.2:c.526C>T, NM_001346954.1:c.526C>T, NM_001346956.2:c.526C>T, NM_001346956.1:c.526C>T, NM_001346948.2:c.526C>T, NM_001346948.1:c.526C>T, XP_016857591.1:p.Leu176Phe, XP_016857588.1:p.Leu176Phe, NP_073611.1:p.Leu176Phe, NP_001333875.1:p.Leu176Phe, NP_001333882.1:p.Leu176Phe, NP_001333876.1:p.Leu176Phe, NP_001333879.1:p.Leu176Phe, NP_001333878.1:p.Leu176Phe, NP_001333884.1:p.Leu176Phe, NP_001333880.1:p.Leu176Phe, NP_001333881.1:p.Leu176Phe, NP_001333883.1:p.Leu176Phe, NP_001333885.1:p.Leu176Phe, NP_001333877.1:p.Leu176Phe

                          13.

                          rs1456950416 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:40515636 (GRCh38)
                            1:40981308 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:40515635:A:G
                            Gene:
                            EXO5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.40515636A>G, NC_000001.10:g.40981308A>G, XM_017002102.3:c.1092A>G, XM_017002102.2:c.1092A>G, XM_017002102.1:c.1092A>G, XM_017002099.3:c.1092A>G, XM_017002099.2:c.1092A>G, XM_017002099.1:c.1092A>G, NM_022774.3:c.1092A>G, NM_022774.2:c.1092A>G, NM_022774.1:c.1092A>G, NM_001346946.2:c.1092A>G, NM_001346946.1:c.1092A>G, NM_001346953.2:c.1092A>G, NM_001346953.1:c.1092A>G, NM_001346947.2:c.1092A>G, NM_001346947.1:c.1092A>G, NM_001346950.2:c.1092A>G, NM_001346950.1:c.1092A>G, NM_001346949.2:c.1092A>G, NM_001346949.1:c.1092A>G, NM_001346955.2:c.1092A>G, NM_001346955.1:c.1092A>G, NM_001346951.2:c.1092A>G, NM_001346951.1:c.1092A>G, NM_001346952.2:c.1092A>G, NM_001346952.1:c.1092A>G, NM_001346954.2:c.1092A>G, NM_001346954.1:c.1092A>G, NM_001346956.2:c.1092A>G, NM_001346956.1:c.1092A>G, NM_001346948.2:c.1092A>G, NM_001346948.1:c.1092A>G

                            14.

                            rs1456097743 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:40515125 (GRCh38)
                              1:40980797 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:40515124:T:C
                              Gene:
                              EXO5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              NC_000001.11:g.40515125T>C, NC_000001.10:g.40980797T>C, XM_017002102.3:c.581T>C, XM_017002102.2:c.581T>C, XM_017002102.1:c.581T>C, XM_017002099.3:c.581T>C, XM_017002099.2:c.581T>C, XM_017002099.1:c.581T>C, NM_022774.3:c.581T>C, NM_022774.2:c.581T>C, NM_022774.1:c.581T>C, NM_001346946.2:c.581T>C, NM_001346946.1:c.581T>C, NM_001346953.2:c.581T>C, NM_001346953.1:c.581T>C, NM_001346947.2:c.581T>C, NM_001346947.1:c.581T>C, NM_001346950.2:c.581T>C, NM_001346950.1:c.581T>C, NM_001346949.2:c.581T>C, NM_001346949.1:c.581T>C, NM_001346955.2:c.581T>C, NM_001346955.1:c.581T>C, NM_001346951.2:c.581T>C, NM_001346951.1:c.581T>C, NM_001346952.2:c.581T>C, NM_001346952.1:c.581T>C, NM_001346954.2:c.581T>C, NM_001346954.1:c.581T>C, NM_001346956.2:c.581T>C, NM_001346956.1:c.581T>C, NM_001346948.2:c.581T>C, NM_001346948.1:c.581T>C, XP_016857591.1:p.Leu194Pro, XP_016857588.1:p.Leu194Pro, NP_073611.1:p.Leu194Pro, NP_001333875.1:p.Leu194Pro, NP_001333882.1:p.Leu194Pro, NP_001333876.1:p.Leu194Pro, NP_001333879.1:p.Leu194Pro, NP_001333878.1:p.Leu194Pro, NP_001333884.1:p.Leu194Pro, NP_001333880.1:p.Leu194Pro, NP_001333881.1:p.Leu194Pro, NP_001333883.1:p.Leu194Pro, NP_001333885.1:p.Leu194Pro, NP_001333877.1:p.Leu194Pro

                              15.

                              rs1453576099 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:40514821 (GRCh38)
                                1:40980493 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:40514820:G:A
                                Gene:
                                EXO5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.40514821G>A, NC_000001.10:g.40980493G>A, XM_017002102.3:c.277G>A, XM_017002102.2:c.277G>A, XM_017002102.1:c.277G>A, XM_017002099.3:c.277G>A, XM_017002099.2:c.277G>A, XM_017002099.1:c.277G>A, NM_022774.3:c.277G>A, NM_022774.2:c.277G>A, NM_022774.1:c.277G>A, NM_001346946.2:c.277G>A, NM_001346946.1:c.277G>A, NM_001346953.2:c.277G>A, NM_001346953.1:c.277G>A, NM_001346947.2:c.277G>A, NM_001346947.1:c.277G>A, NM_001346950.2:c.277G>A, NM_001346950.1:c.277G>A, NM_001346949.2:c.277G>A, NM_001346949.1:c.277G>A, NM_001346955.2:c.277G>A, NM_001346955.1:c.277G>A, NM_001346951.2:c.277G>A, NM_001346951.1:c.277G>A, NM_001346952.2:c.277G>A, NM_001346952.1:c.277G>A, NM_001346954.2:c.277G>A, NM_001346954.1:c.277G>A, NM_001346956.2:c.277G>A, NM_001346956.1:c.277G>A, NM_001346948.2:c.277G>A, NM_001346948.1:c.277G>A, XP_016857591.1:p.Glu93Lys, XP_016857588.1:p.Glu93Lys, NP_073611.1:p.Glu93Lys, NP_001333875.1:p.Glu93Lys, NP_001333882.1:p.Glu93Lys, NP_001333876.1:p.Glu93Lys, NP_001333879.1:p.Glu93Lys, NP_001333878.1:p.Glu93Lys, NP_001333884.1:p.Glu93Lys, NP_001333880.1:p.Glu93Lys, NP_001333881.1:p.Glu93Lys, NP_001333883.1:p.Glu93Lys, NP_001333885.1:p.Glu93Lys, NP_001333877.1:p.Glu93Lys

                                16.

                                rs1451272769 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:40515269 (GRCh38)
                                  1:40980941 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:40515268:C:T
                                  Gene:
                                  EXO5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.40515269C>T, NC_000001.10:g.40980941C>T, XM_017002102.3:c.725C>T, XM_017002102.2:c.725C>T, XM_017002102.1:c.725C>T, XM_017002099.3:c.725C>T, XM_017002099.2:c.725C>T, XM_017002099.1:c.725C>T, NM_022774.3:c.725C>T, NM_022774.2:c.725C>T, NM_022774.1:c.725C>T, NM_001346946.2:c.725C>T, NM_001346946.1:c.725C>T, NM_001346953.2:c.725C>T, NM_001346953.1:c.725C>T, NM_001346947.2:c.725C>T, NM_001346947.1:c.725C>T, NM_001346950.2:c.725C>T, NM_001346950.1:c.725C>T, NM_001346949.2:c.725C>T, NM_001346949.1:c.725C>T, NM_001346955.2:c.725C>T, NM_001346955.1:c.725C>T, NM_001346951.2:c.725C>T, NM_001346951.1:c.725C>T, NM_001346952.2:c.725C>T, NM_001346952.1:c.725C>T, NM_001346954.2:c.725C>T, NM_001346954.1:c.725C>T, NM_001346956.2:c.725C>T, NM_001346956.1:c.725C>T, NM_001346948.2:c.725C>T, NM_001346948.1:c.725C>T, XP_016857591.1:p.Thr242Ile, XP_016857588.1:p.Thr242Ile, NP_073611.1:p.Thr242Ile, NP_001333875.1:p.Thr242Ile, NP_001333882.1:p.Thr242Ile, NP_001333876.1:p.Thr242Ile, NP_001333879.1:p.Thr242Ile, NP_001333878.1:p.Thr242Ile, NP_001333884.1:p.Thr242Ile, NP_001333880.1:p.Thr242Ile, NP_001333881.1:p.Thr242Ile, NP_001333883.1:p.Thr242Ile, NP_001333885.1:p.Thr242Ile, NP_001333877.1:p.Thr242Ile

                                  17.

                                  rs1447816006 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:40515138 (GRCh38)
                                    1:40980810 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:40515137:G:A
                                    Gene:
                                    EXO5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.40515138G>A, NC_000001.10:g.40980810G>A, XM_017002102.3:c.594G>A, XM_017002102.2:c.594G>A, XM_017002102.1:c.594G>A, XM_017002099.3:c.594G>A, XM_017002099.2:c.594G>A, XM_017002099.1:c.594G>A, NM_022774.3:c.594G>A, NM_022774.2:c.594G>A, NM_022774.1:c.594G>A, NM_001346946.2:c.594G>A, NM_001346946.1:c.594G>A, NM_001346953.2:c.594G>A, NM_001346953.1:c.594G>A, NM_001346947.2:c.594G>A, NM_001346947.1:c.594G>A, NM_001346950.2:c.594G>A, NM_001346950.1:c.594G>A, NM_001346949.2:c.594G>A, NM_001346949.1:c.594G>A, NM_001346955.2:c.594G>A, NM_001346955.1:c.594G>A, NM_001346951.2:c.594G>A, NM_001346951.1:c.594G>A, NM_001346952.2:c.594G>A, NM_001346952.1:c.594G>A, NM_001346954.2:c.594G>A, NM_001346954.1:c.594G>A, NM_001346956.2:c.594G>A, NM_001346956.1:c.594G>A, NM_001346948.2:c.594G>A, NM_001346948.1:c.594G>A

                                    18.

                                    rs1446394377 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:40515586 (GRCh38)
                                      1:40981258 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:40515585:T:G
                                      Gene:
                                      EXO5 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_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_000001.11:g.40515586T>G, NC_000001.10:g.40981258T>G, XM_017002102.3:c.1042T>G, XM_017002102.2:c.1042T>G, XM_017002102.1:c.1042T>G, XM_017002099.3:c.1042T>G, XM_017002099.2:c.1042T>G, XM_017002099.1:c.1042T>G, NM_022774.3:c.1042T>G, NM_022774.2:c.1042T>G, NM_022774.1:c.1042T>G, NM_001346946.2:c.1042T>G, NM_001346946.1:c.1042T>G, NM_001346953.2:c.1042T>G, NM_001346953.1:c.1042T>G, NM_001346947.2:c.1042T>G, NM_001346947.1:c.1042T>G, NM_001346950.2:c.1042T>G, NM_001346950.1:c.1042T>G, NM_001346949.2:c.1042T>G, NM_001346949.1:c.1042T>G, NM_001346955.2:c.1042T>G, NM_001346955.1:c.1042T>G, NM_001346951.2:c.1042T>G, NM_001346951.1:c.1042T>G, NM_001346952.2:c.1042T>G, NM_001346952.1:c.1042T>G, NM_001346954.2:c.1042T>G, NM_001346954.1:c.1042T>G, NM_001346956.2:c.1042T>G, NM_001346956.1:c.1042T>G, NM_001346948.2:c.1042T>G, NM_001346948.1:c.1042T>G, XP_016857591.1:p.Tyr348Asp, XP_016857588.1:p.Tyr348Asp, NP_073611.1:p.Tyr348Asp, NP_001333875.1:p.Tyr348Asp, NP_001333882.1:p.Tyr348Asp, NP_001333876.1:p.Tyr348Asp, NP_001333879.1:p.Tyr348Asp, NP_001333878.1:p.Tyr348Asp, NP_001333884.1:p.Tyr348Asp, NP_001333880.1:p.Tyr348Asp, NP_001333881.1:p.Tyr348Asp, NP_001333883.1:p.Tyr348Asp, NP_001333885.1:p.Tyr348Asp, NP_001333877.1:p.Tyr348Asp

                                      19.

                                      rs1445914554 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:40515597 (GRCh38)
                                        1:40981269 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:40515596:T:C
                                        Gene:
                                        EXO5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.40515597T>C, NC_000001.10:g.40981269T>C, XM_017002102.3:c.1053T>C, XM_017002102.2:c.1053T>C, XM_017002102.1:c.1053T>C, XM_017002099.3:c.1053T>C, XM_017002099.2:c.1053T>C, XM_017002099.1:c.1053T>C, NM_022774.3:c.1053T>C, NM_022774.2:c.1053T>C, NM_022774.1:c.1053T>C, NM_001346946.2:c.1053T>C, NM_001346946.1:c.1053T>C, NM_001346953.2:c.1053T>C, NM_001346953.1:c.1053T>C, NM_001346947.2:c.1053T>C, NM_001346947.1:c.1053T>C, NM_001346950.2:c.1053T>C, NM_001346950.1:c.1053T>C, NM_001346949.2:c.1053T>C, NM_001346949.1:c.1053T>C, NM_001346955.2:c.1053T>C, NM_001346955.1:c.1053T>C, NM_001346951.2:c.1053T>C, NM_001346951.1:c.1053T>C, NM_001346952.2:c.1053T>C, NM_001346952.1:c.1053T>C, NM_001346954.2:c.1053T>C, NM_001346954.1:c.1053T>C, NM_001346956.2:c.1053T>C, NM_001346956.1:c.1053T>C, NM_001346948.2:c.1053T>C, NM_001346948.1:c.1053T>C

                                        20.

                                        rs1438933642 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          1:40515337 (GRCh38)
                                          1:40981009 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:40515336:G:C,NC_000001.11:40515336:G:T
                                          Gene:
                                          EXO5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000008/2 (GnomAD_exomes)
                                          T=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000001.11:g.40515337G>C, NC_000001.11:g.40515337G>T, NC_000001.10:g.40981009G>C, NC_000001.10:g.40981009G>T, XM_017002102.3:c.793G>C, XM_017002102.3:c.793G>T, XM_017002102.2:c.793G>C, XM_017002102.2:c.793G>T, XM_017002102.1:c.793G>C, XM_017002102.1:c.793G>T, XM_017002099.3:c.793G>C, XM_017002099.3:c.793G>T, XM_017002099.2:c.793G>C, XM_017002099.2:c.793G>T, XM_017002099.1:c.793G>C, XM_017002099.1:c.793G>T, NM_022774.3:c.793G>C, NM_022774.3:c.793G>T, NM_022774.2:c.793G>C, NM_022774.2:c.793G>T, NM_022774.1:c.793G>C, NM_022774.1:c.793G>T, NM_001346946.2:c.793G>C, NM_001346946.2:c.793G>T, NM_001346946.1:c.793G>C, NM_001346946.1:c.793G>T, NM_001346953.2:c.793G>C, NM_001346953.2:c.793G>T, NM_001346953.1:c.793G>C, NM_001346953.1:c.793G>T, NM_001346947.2:c.793G>C, NM_001346947.2:c.793G>T, NM_001346947.1:c.793G>C, NM_001346947.1:c.793G>T, NM_001346950.2:c.793G>C, NM_001346950.2:c.793G>T, NM_001346950.1:c.793G>C, NM_001346950.1:c.793G>T, NM_001346949.2:c.793G>C, NM_001346949.2:c.793G>T, NM_001346949.1:c.793G>C, NM_001346949.1:c.793G>T, NM_001346955.2:c.793G>C, NM_001346955.2:c.793G>T, NM_001346955.1:c.793G>C, NM_001346955.1:c.793G>T, NM_001346951.2:c.793G>C, NM_001346951.2:c.793G>T, NM_001346951.1:c.793G>C, NM_001346951.1:c.793G>T, NM_001346952.2:c.793G>C, NM_001346952.2:c.793G>T, NM_001346952.1:c.793G>C, NM_001346952.1:c.793G>T, NM_001346954.2:c.793G>C, NM_001346954.2:c.793G>T, NM_001346954.1:c.793G>C, NM_001346954.1:c.793G>T, NM_001346956.2:c.793G>C, NM_001346956.2:c.793G>T, NM_001346956.1:c.793G>C, NM_001346956.1:c.793G>T, NM_001346948.2:c.793G>C, NM_001346948.2:c.793G>T, NM_001346948.1:c.793G>C, NM_001346948.1:c.793G>T, XP_016857591.1:p.Val265Leu, XP_016857591.1:p.Val265Leu, XP_016857588.1:p.Val265Leu, XP_016857588.1:p.Val265Leu, NP_073611.1:p.Val265Leu, NP_073611.1:p.Val265Leu, NP_001333875.1:p.Val265Leu, NP_001333875.1:p.Val265Leu, NP_001333882.1:p.Val265Leu, NP_001333882.1:p.Val265Leu, NP_001333876.1:p.Val265Leu, NP_001333876.1:p.Val265Leu, NP_001333879.1:p.Val265Leu, NP_001333879.1:p.Val265Leu, NP_001333878.1:p.Val265Leu, NP_001333878.1:p.Val265Leu, NP_001333884.1:p.Val265Leu, NP_001333884.1:p.Val265Leu, NP_001333880.1:p.Val265Leu, NP_001333880.1:p.Val265Leu, NP_001333881.1:p.Val265Leu, NP_001333881.1:p.Val265Leu, NP_001333883.1:p.Val265Leu, NP_001333883.1:p.Val265Leu, NP_001333885.1:p.Val265Leu, NP_001333885.1:p.Val265Leu, NP_001333877.1:p.Val265Leu, NP_001333877.1:p.Val265Leu

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