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Items: 1 to 20 of 226

1.

rs1480798867 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    7:144531163 (GRCh38)
    7:144228256 (GRCh37)
    Canonical SPDI:
    NC_000007.14:144531162:C:T
    Gene:
    TPK1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000007/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1478841378 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      7:144623240 (GRCh38)
      7:144320333 (GRCh37)
      Canonical SPDI:
      NC_000007.14:144623239:G:C
      Gene:
      TPK1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.144623240G>C, NC_000007.13:g.144320333G>C, NG_032112.2:g.217814C>G, NM_022445.4:c.280C>G, NM_022445.3:c.280C>G, NR_146936.2:n.507C>G, NR_146936.1:n.531C>G, NM_001350884.2:c.265C>G, NM_001350884.1:c.265C>G, NM_001042482.2:c.280C>G, NM_001042482.1:c.280C>G, NM_001350879.1:c.280C>G, NM_001350895.1:c.-194C>G, NM_001350882.1:c.265C>G, NM_001350881.1:c.280C>G, NM_001350883.1:c.265C>G, NM_001350886.1:c.-39C>G, NM_001350880.1:c.280C>G, NR_146935.1:n.463C>G, NM_001350893.1:c.-39C>G, NM_001350894.1:c.-39C>G, NM_001350885.1:c.-39C>G, NM_001350887.1:c.-39C>G, NM_001350889.1:c.-39C>G, NR_146934.1:n.324C>G, NW_018654715.1:g.672971G>C, XM_011516040.3:c.358C>G, XM_011516040.2:c.358C>G, XM_011516040.1:c.358C>G, XM_011516047.3:c.-39C>G, XM_011516047.2:c.-39C>G, XM_011516047.1:c.-39C>G, XM_011516032.3:c.358C>G, XM_011516032.2:c.358C>G, XM_011516032.1:c.358C>G, XM_011516034.3:c.358C>G, XM_011516034.2:c.358C>G, XM_011516034.1:c.358C>G, XM_011516033.3:c.358C>G, XM_011516033.2:c.358C>G, XM_011516033.1:c.358C>G, XM_011516037.3:c.343C>G, XM_011516037.2:c.343C>G, XM_011516037.1:c.343C>G, XM_011516039.3:c.280C>G, XM_011516039.2:c.280C>G, XM_011516039.1:c.280C>G, XM_017011981.3:c.40C>G, XM_017011981.2:c.40C>G, XM_017011981.1:c.40C>G, XM_017011980.3:c.40C>G, XM_017011980.2:c.40C>G, XM_017011980.1:c.40C>G, XM_011516031.2:c.358C>G, XM_011516031.1:c.358C>G, XM_005249970.2:c.280C>G, XM_005249970.1:c.280C>G, XM_017011971.2:c.343C>G, XM_017011971.1:c.343C>G, XM_024446717.2:c.-39C>G, XM_024446717.1:c.-39C>G, XM_011516043.2:c.358C>G, XM_011516043.1:c.358C>G, XM_017011969.2:c.358C>G, XM_017011969.1:c.358C>G, XM_017011972.2:c.358C>G, XM_017011972.1:c.358C>G, XR_001744630.2:n.461C>G, XR_001744630.1:n.462C>G, XM_011516046.2:c.358C>G, XM_011516046.1:c.358C>G, XM_047420198.1:c.-39C>G, XM_047420199.1:c.-39C>G, XM_047420192.1:c.280C>G, XM_017011970.1:c.343C>G, XM_047420195.1:c.280C>G, XM_047420197.1:c.-39C>G, XM_047420194.1:c.280C>G, XM_047420196.1:c.265C>G, XM_011516048.1:c.-39C>G, NP_071890.2:p.Pro94Ala, NP_001337813.1:p.Pro89Ala, NP_001035947.1:p.Pro94Ala, NP_001337808.1:p.Pro94Ala, NP_001337811.1:p.Pro89Ala, NP_001337810.1:p.Pro94Ala, NP_001337812.1:p.Pro89Ala, NP_001337809.1:p.Pro94Ala, XP_011514342.1:p.Pro120Ala, XP_011514334.1:p.Pro120Ala, XP_011514336.1:p.Pro120Ala, XP_011514335.1:p.Pro120Ala, XP_011514339.1:p.Pro115Ala, XP_011514341.1:p.Pro94Ala, XP_016867470.1:p.Pro14Ala, XP_016867469.1:p.Pro14Ala, XP_011514333.1:p.Pro120Ala, XP_005250027.1:p.Pro94Ala, XP_016867460.1:p.Pro115Ala, XP_011514345.1:p.Pro120Ala, XP_016867458.1:p.Pro120Ala, XP_016867461.1:p.Pro120Ala, XP_011514348.1:p.Pro120Ala, XP_047276148.1:p.Pro94Ala, XP_016867459.1:p.Pro115Ala, XP_047276151.1:p.Pro94Ala, XP_047276150.1:p.Pro94Ala, XP_047276152.1:p.Pro89Ala

      3.

      rs1476551905 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:144591510 (GRCh38)
        7:144288603 (GRCh37)
        Canonical SPDI:
        NC_000007.14:144591509:A:G
        Gene:
        TPK1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.144591510A>G, NC_000007.13:g.144288603A>G, NG_032112.2:g.249544T>C, NM_022445.4:c.414T>C, NM_022445.3:c.414T>C, NR_146936.2:n.763T>C, NR_146936.1:n.787T>C, NM_001350884.2:c.399T>C, NM_001350884.1:c.399T>C, NM_001350879.1:c.414T>C, NM_001350895.1:c.63T>C, NM_001350882.1:c.399T>C, NM_001350881.1:c.414T>C, NM_001350883.1:c.399T>C, NM_001350886.1:c.96T>C, NM_001350893.1:c.96T>C, NM_001350894.1:c.96T>C, NM_001350885.1:c.96T>C, NM_001350887.1:c.96T>C, NM_001350889.1:c.96T>C, NW_018654715.1:g.641241A>G, XM_011516040.3:c.492T>C, XM_011516040.2:c.492T>C, XM_011516040.1:c.492T>C, XM_011516047.3:c.96T>C, XM_011516047.2:c.96T>C, XM_011516047.1:c.96T>C, XM_011516032.3:c.492T>C, XM_011516032.2:c.492T>C, XM_011516032.1:c.492T>C, XM_011516034.3:c.492T>C, XM_011516034.2:c.492T>C, XM_011516034.1:c.492T>C, XM_011516033.3:c.492T>C, XM_011516033.2:c.492T>C, XM_011516033.1:c.492T>C, XM_011516037.3:c.477T>C, XM_011516037.2:c.477T>C, XM_011516037.1:c.477T>C, XM_011516039.3:c.414T>C, XM_011516039.2:c.414T>C, XM_011516039.1:c.414T>C, XM_017011981.3:c.174T>C, XM_017011981.2:c.174T>C, XM_017011981.1:c.174T>C, XM_017011980.3:c.174T>C, XM_017011980.2:c.174T>C, XM_017011980.1:c.174T>C, XM_011516031.2:c.492T>C, XM_011516031.1:c.492T>C, XM_005249970.2:c.414T>C, XM_005249970.1:c.414T>C, XM_017011971.2:c.477T>C, XM_017011971.1:c.477T>C, XM_024446717.2:c.96T>C, XM_024446717.1:c.96T>C, XM_017011969.2:c.492T>C, XM_017011969.1:c.492T>C, XM_017011972.2:c.492T>C, XM_017011972.1:c.492T>C, XR_001744630.2:n.595T>C, XR_001744630.1:n.596T>C, XM_047420198.1:c.96T>C, XM_047420192.1:c.414T>C, XM_017011970.1:c.477T>C, XM_047420197.1:c.96T>C, XM_011516048.1:c.96T>C, XM_047420199.1:c.96T>C

        4.

        rs1471756620 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          7:144591469 (GRCh38)
          7:144288562 (GRCh37)
          Canonical SPDI:
          NC_000007.14:144591468:G:T
          Gene:
          TPK1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000007.14:g.144591469G>T, NC_000007.13:g.144288562G>T, NG_032112.2:g.249585C>A, NM_022445.4:c.455C>A, NM_022445.3:c.455C>A, NR_146936.2:n.804C>A, NR_146936.1:n.828C>A, NM_001350884.2:c.440C>A, NM_001350884.1:c.440C>A, NM_001350879.1:c.455C>A, NM_001350895.1:c.104C>A, NM_001350882.1:c.440C>A, NM_001350881.1:c.455C>A, NM_001350883.1:c.440C>A, NM_001350886.1:c.137C>A, NM_001350893.1:c.137C>A, NM_001350894.1:c.137C>A, NM_001350885.1:c.137C>A, NM_001350887.1:c.137C>A, NM_001350889.1:c.137C>A, NW_018654715.1:g.641200G>T, XM_011516040.3:c.533C>A, XM_011516040.2:c.533C>A, XM_011516040.1:c.533C>A, XM_011516047.3:c.137C>A, XM_011516047.2:c.137C>A, XM_011516047.1:c.137C>A, XM_011516032.3:c.533C>A, XM_011516032.2:c.533C>A, XM_011516032.1:c.533C>A, XM_011516034.3:c.533C>A, XM_011516034.2:c.533C>A, XM_011516034.1:c.533C>A, XM_011516033.3:c.533C>A, XM_011516033.2:c.533C>A, XM_011516033.1:c.533C>A, XM_011516037.3:c.518C>A, XM_011516037.2:c.518C>A, XM_011516037.1:c.518C>A, XM_011516039.3:c.455C>A, XM_011516039.2:c.455C>A, XM_011516039.1:c.455C>A, XM_017011981.3:c.215C>A, XM_017011981.2:c.215C>A, XM_017011981.1:c.215C>A, XM_017011980.3:c.215C>A, XM_017011980.2:c.215C>A, XM_017011980.1:c.215C>A, XM_011516031.2:c.533C>A, XM_011516031.1:c.533C>A, XM_005249970.2:c.455C>A, XM_005249970.1:c.455C>A, XM_017011971.2:c.518C>A, XM_017011971.1:c.518C>A, XM_024446717.2:c.137C>A, XM_024446717.1:c.137C>A, XM_017011969.2:c.533C>A, XM_017011969.1:c.533C>A, XM_017011972.2:c.533C>A, XM_017011972.1:c.533C>A, XR_001744630.2:n.636C>A, XR_001744630.1:n.637C>A, XM_047420198.1:c.137C>A, XM_047420192.1:c.455C>A, XM_017011970.1:c.518C>A, XM_047420197.1:c.137C>A, XM_011516048.1:c.137C>A, XM_047420199.1:c.137C>A, NP_071890.2:p.Pro152Gln, NP_001337813.1:p.Pro147Gln, NP_001337808.1:p.Pro152Gln, NP_001337824.1:p.Pro35Gln, NP_001337811.1:p.Pro147Gln, NP_001337810.1:p.Pro152Gln, NP_001337812.1:p.Pro147Gln, NP_001337815.1:p.Pro46Gln, NP_001337822.1:p.Pro46Gln, NP_001337823.1:p.Pro46Gln, NP_001337814.1:p.Pro46Gln, NP_001337816.1:p.Pro46Gln, NP_001337818.1:p.Pro46Gln, XP_011514342.1:p.Pro178Gln, XP_011514349.1:p.Pro46Gln, XP_011514334.1:p.Pro178Gln, XP_011514336.1:p.Pro178Gln, XP_011514335.1:p.Pro178Gln, XP_011514339.1:p.Pro173Gln, XP_011514341.1:p.Pro152Gln, XP_016867470.1:p.Pro72Gln, XP_016867469.1:p.Pro72Gln, XP_011514333.1:p.Pro178Gln, XP_005250027.1:p.Pro152Gln, XP_016867460.1:p.Pro173Gln, XP_024302485.1:p.Pro46Gln, XP_016867458.1:p.Pro178Gln, XP_016867461.1:p.Pro178Gln, XP_047276154.1:p.Pro46Gln, XP_047276148.1:p.Pro152Gln, XP_016867459.1:p.Pro173Gln, XP_047276153.1:p.Pro46Gln, XP_011514350.1:p.Pro46Gln, XP_047276155.1:p.Pro46Gln

          5.

          rs1470347447 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            7:144531088 (GRCh38)
            7:144228181 (GRCh37)
            Canonical SPDI:
            NC_000007.14:144531087:T:A
            Gene:
            TPK1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1458425939 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:144682938 (GRCh38)
              7:144380031 (GRCh37)
              Canonical SPDI:
              NC_000007.14:144682937:T:C
              Gene:
              TPK1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000028/1 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000015/4 (TOPMED)
              HGVS:
              NC_000007.14:g.144682938T>C, NC_000007.13:g.144380031T>C, NG_032112.2:g.158116A>G, NM_022445.4:c.156A>G, NM_022445.3:c.156A>G, NR_146936.2:n.204A>G, NR_146936.1:n.228A>G, NM_001350884.2:c.20A>G, NM_001350884.1:c.20A>G, NM_001042482.2:c.156A>G, NM_001042482.1:c.156A>G, NM_001350879.1:c.156A>G, NM_001350895.1:c.-318A>G, NM_001350882.1:c.20A>G, NM_001350881.1:c.156A>G, NM_001350883.1:c.20A>G, NM_001350886.1:c.-241A>G, NM_001350880.1:c.156A>G, NM_001350894.1:c.-90A>G, NM_001350887.1:c.-90A>G, NR_146934.1:n.200A>G, XM_011516040.3:c.156A>G, XM_011516040.2:c.156A>G, XM_011516040.1:c.156A>G, XM_011516032.3:c.156A>G, XM_011516032.2:c.156A>G, XM_011516032.1:c.156A>G, XM_011516034.3:c.156A>G, XM_011516034.2:c.156A>G, XM_011516034.1:c.156A>G, XM_011516033.3:c.156A>G, XM_011516033.2:c.156A>G, XM_011516033.1:c.156A>G, XM_011516037.3:c.20A>G, XM_011516037.2:c.20A>G, XM_011516037.1:c.20A>G, XM_011516039.3:c.20A>G, XM_011516039.2:c.20A>G, XM_011516039.1:c.20A>G, XM_011516031.2:c.156A>G, XM_011516031.1:c.156A>G, XM_005249970.2:c.156A>G, XM_005249970.1:c.156A>G, XM_017011971.2:c.20A>G, XM_017011971.1:c.20A>G, XM_024446717.2:c.-241A>G, XM_024446717.1:c.-241A>G, XM_011516043.2:c.156A>G, XM_011516043.1:c.156A>G, XM_017011969.2:c.156A>G, XM_017011969.1:c.156A>G, XM_017011972.2:c.156A>G, XM_017011972.1:c.156A>G, XR_001744630.2:n.259A>G, XR_001744630.1:n.260A>G, XM_011516046.2:c.156A>G, XM_011516046.1:c.156A>G, XM_047420198.1:c.-163A>G, XM_047420199.1:c.-163A>G, XM_047420192.1:c.156A>G, XM_017011970.1:c.20A>G, XM_047420195.1:c.156A>G, XM_047420197.1:c.-163A>G, XM_047420194.1:c.156A>G, XM_047420196.1:c.20A>G, NP_001337813.1:p.Tyr7Cys, NP_001337811.1:p.Tyr7Cys, NP_001337812.1:p.Tyr7Cys, XP_011514339.1:p.Tyr7Cys, XP_011514341.1:p.Tyr7Cys, XP_016867460.1:p.Tyr7Cys, XP_016867459.1:p.Tyr7Cys, XP_047276152.1:p.Tyr7Cys

              7.

              rs1458013378 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:144765941 (GRCh38)
                7:144463034 (GRCh37)
                Canonical SPDI:
                NC_000007.14:144765940:C:T
                Gene:
                TPK1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000051/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000007.14:g.144765941C>T, NC_000007.13:g.144463034C>T, NG_032112.2:g.75113G>A, NM_022445.4:c.54G>A, NM_022445.3:c.54G>A, NM_001042482.2:c.54G>A, NM_001042482.1:c.54G>A, NM_001350879.1:c.54G>A, NM_001350895.1:c.-420G>A, NM_001350882.1:c.-83G>A, NM_001350881.1:c.54G>A, NM_001350883.1:c.-83G>A, NM_001350886.1:c.-343G>A, NM_001350880.1:c.54G>A, NR_146935.1:n.307G>A, NM_001350893.1:c.-195G>A, NM_001350894.1:c.-192G>A, NM_001350885.1:c.-195G>A, NM_001350887.1:c.-192G>A, NM_001350889.1:c.-122G>A, NR_146934.1:n.98G>A, XM_011516040.3:c.54G>A, XM_011516040.2:c.54G>A, XM_011516040.1:c.54G>A, XM_011516032.3:c.54G>A, XM_011516032.2:c.54G>A, XM_011516032.1:c.54G>A, XM_011516034.3:c.54G>A, XM_011516034.2:c.54G>A, XM_011516034.1:c.54G>A, XM_011516033.3:c.54G>A, XM_011516033.2:c.54G>A, XM_011516033.1:c.54G>A, XM_011516031.2:c.54G>A, XM_011516031.1:c.54G>A, XM_005249970.2:c.54G>A, XM_005249970.1:c.54G>A, XM_024446717.2:c.-343G>A, XM_024446717.1:c.-343G>A, XM_011516043.2:c.54G>A, XM_011516043.1:c.54G>A, XM_017011969.2:c.54G>A, XM_017011969.1:c.54G>A, XM_017011972.2:c.54G>A, XM_017011972.1:c.54G>A, XR_001744630.2:n.157G>A, XR_001744630.1:n.158G>A, XM_011516046.2:c.54G>A, XM_011516046.1:c.54G>A, XM_047420198.1:c.-265G>A, XM_047420199.1:c.-265G>A, XM_047420192.1:c.54G>A, XM_017011970.1:c.-83G>A, XM_047420195.1:c.54G>A, XM_047420197.1:c.-265G>A, XM_047420194.1:c.54G>A

                8.

                rs1454645001 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  7:144591537 (GRCh38)
                  7:144288630 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:144591536:A:C
                  Gene:
                  TPK1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000015/4 (TOPMED)
                  C=0.000029/4 (GnomAD)
                  HGVS:
                  NC_000007.14:g.144591537A>C, NC_000007.13:g.144288630A>C, NG_032112.2:g.249517T>G, NM_022445.4:c.387T>G, NM_022445.3:c.387T>G, NR_146936.2:n.736T>G, NR_146936.1:n.760T>G, NM_001350884.2:c.372T>G, NM_001350884.1:c.372T>G, NM_001350879.1:c.387T>G, NM_001350895.1:c.36T>G, NM_001350882.1:c.372T>G, NM_001350881.1:c.387T>G, NM_001350883.1:c.372T>G, NM_001350886.1:c.69T>G, NM_001350893.1:c.69T>G, NM_001350894.1:c.69T>G, NM_001350885.1:c.69T>G, NM_001350887.1:c.69T>G, NM_001350889.1:c.69T>G, NW_018654715.1:g.641268A>C, XM_011516040.3:c.465T>G, XM_011516040.2:c.465T>G, XM_011516040.1:c.465T>G, XM_011516047.3:c.69T>G, XM_011516047.2:c.69T>G, XM_011516047.1:c.69T>G, XM_011516032.3:c.465T>G, XM_011516032.2:c.465T>G, XM_011516032.1:c.465T>G, XM_011516034.3:c.465T>G, XM_011516034.2:c.465T>G, XM_011516034.1:c.465T>G, XM_011516033.3:c.465T>G, XM_011516033.2:c.465T>G, XM_011516033.1:c.465T>G, XM_011516037.3:c.450T>G, XM_011516037.2:c.450T>G, XM_011516037.1:c.450T>G, XM_011516039.3:c.387T>G, XM_011516039.2:c.387T>G, XM_011516039.1:c.387T>G, XM_017011981.3:c.147T>G, XM_017011981.2:c.147T>G, XM_017011981.1:c.147T>G, XM_017011980.3:c.147T>G, XM_017011980.2:c.147T>G, XM_017011980.1:c.147T>G, XM_011516031.2:c.465T>G, XM_011516031.1:c.465T>G, XM_005249970.2:c.387T>G, XM_005249970.1:c.387T>G, XM_017011971.2:c.450T>G, XM_017011971.1:c.450T>G, XM_024446717.2:c.69T>G, XM_024446717.1:c.69T>G, XM_017011969.2:c.465T>G, XM_017011969.1:c.465T>G, XM_017011972.2:c.465T>G, XM_017011972.1:c.465T>G, XR_001744630.2:n.568T>G, XR_001744630.1:n.569T>G, XM_047420198.1:c.69T>G, XM_047420192.1:c.387T>G, XM_017011970.1:c.450T>G, XM_047420197.1:c.69T>G, XM_011516048.1:c.69T>G, XM_047420199.1:c.69T>G

                  9.

                  rs1452385735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    7:144648868 (GRCh38)
                    7:144345961 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:144648867:T:G
                    Gene:
                    TPK1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.144648868T>G, NC_000007.13:g.144345961T>G, NG_032112.2:g.192186A>C, NM_022445.4:c.197A>C, NM_022445.3:c.197A>C, NR_146936.2:n.424A>C, NR_146936.1:n.448A>C, NM_001350884.2:c.182A>C, NM_001350884.1:c.182A>C, NM_001042482.2:c.197A>C, NM_001042482.1:c.197A>C, NM_001350879.1:c.197A>C, NM_001350895.1:c.-277A>C, NM_001350882.1:c.182A>C, NM_001350881.1:c.197A>C, NM_001350883.1:c.182A>C, NM_001350886.1:c.-200A>C, NM_001350880.1:c.197A>C, NR_146935.1:n.380A>C, NM_001350893.1:c.-122A>C, NM_001350885.1:c.-122A>C, NR_146934.1:n.241A>C, XM_011516040.3:c.197A>C, XM_011516040.2:c.197A>C, XM_011516040.1:c.197A>C, XM_011516047.3:c.-122A>C, XM_011516047.2:c.-122A>C, XM_011516047.1:c.-122A>C, XM_011516032.3:c.197A>C, XM_011516032.2:c.197A>C, XM_011516032.1:c.197A>C, XM_011516034.3:c.197A>C, XM_011516034.2:c.197A>C, XM_011516034.1:c.197A>C, XM_011516033.3:c.197A>C, XM_011516033.2:c.197A>C, XM_011516033.1:c.197A>C, XM_011516037.3:c.182A>C, XM_011516037.2:c.182A>C, XM_011516037.1:c.182A>C, XM_011516039.3:c.119A>C, XM_011516039.2:c.119A>C, XM_011516039.1:c.119A>C, XM_011516031.2:c.197A>C, XM_011516031.1:c.197A>C, XM_005249970.2:c.197A>C, XM_005249970.1:c.197A>C, XM_017011971.2:c.182A>C, XM_017011971.1:c.182A>C, XM_024446717.2:c.-200A>C, XM_024446717.1:c.-200A>C, XM_011516043.2:c.197A>C, XM_011516043.1:c.197A>C, XM_017011969.2:c.197A>C, XM_017011969.1:c.197A>C, XM_017011972.2:c.197A>C, XM_017011972.1:c.197A>C, XR_001744630.2:n.300A>C, XR_001744630.1:n.301A>C, XM_011516046.2:c.197A>C, XM_011516046.1:c.197A>C, XM_047420198.1:c.-122A>C, XM_047420199.1:c.-122A>C, XM_047420192.1:c.197A>C, XM_017011970.1:c.182A>C, XM_047420195.1:c.197A>C, XM_047420197.1:c.-122A>C, XM_047420194.1:c.197A>C, XM_047420196.1:c.182A>C, XM_011516048.1:c.-122A>C, NP_071890.2:p.Glu66Ala, NP_001337813.1:p.Glu61Ala, NP_001035947.1:p.Glu66Ala, NP_001337808.1:p.Glu66Ala, NP_001337811.1:p.Glu61Ala, NP_001337810.1:p.Glu66Ala, NP_001337812.1:p.Glu61Ala, NP_001337809.1:p.Glu66Ala, XP_011514342.1:p.Glu66Ala, XP_011514334.1:p.Glu66Ala, XP_011514336.1:p.Glu66Ala, XP_011514335.1:p.Glu66Ala, XP_011514339.1:p.Glu61Ala, XP_011514341.1:p.Glu40Ala, XP_011514333.1:p.Glu66Ala, XP_005250027.1:p.Glu66Ala, XP_016867460.1:p.Glu61Ala, XP_011514345.1:p.Glu66Ala, XP_016867458.1:p.Glu66Ala, XP_016867461.1:p.Glu66Ala, XP_011514348.1:p.Glu66Ala, XP_047276148.1:p.Glu66Ala, XP_016867459.1:p.Glu61Ala, XP_047276151.1:p.Glu66Ala, XP_047276150.1:p.Glu66Ala, XP_047276152.1:p.Glu61Ala

                    10.

                    rs1451837020 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      7:144765922 (GRCh38)
                      7:144463015 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:144765921:T:C,NC_000007.14:144765921:T:G
                      Gene:
                      TPK1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000007.14:g.144765922T>C, NC_000007.14:g.144765922T>G, NC_000007.13:g.144463015T>C, NC_000007.13:g.144463015T>G, NG_032112.2:g.75132A>G, NG_032112.2:g.75132A>C, NM_022445.4:c.73A>G, NM_022445.4:c.73A>C, NM_022445.3:c.73A>G, NM_022445.3:c.73A>C, NM_001042482.2:c.73A>G, NM_001042482.2:c.73A>C, NM_001042482.1:c.73A>G, NM_001042482.1:c.73A>C, NM_001350879.1:c.73A>G, NM_001350879.1:c.73A>C, NM_001350895.1:c.-401A>G, NM_001350895.1:c.-401A>C, NM_001350882.1:c.-64A>G, NM_001350882.1:c.-64A>C, NM_001350881.1:c.73A>G, NM_001350881.1:c.73A>C, NM_001350883.1:c.-64A>G, NM_001350883.1:c.-64A>C, NM_001350886.1:c.-324A>G, NM_001350886.1:c.-324A>C, NM_001350880.1:c.73A>G, NM_001350880.1:c.73A>C, NR_146935.1:n.326A>G, NR_146935.1:n.326A>C, NM_001350893.1:c.-176A>G, NM_001350893.1:c.-176A>C, NM_001350894.1:c.-173A>G, NM_001350894.1:c.-173A>C, NM_001350885.1:c.-176A>G, NM_001350885.1:c.-176A>C, NM_001350887.1:c.-173A>G, NM_001350887.1:c.-173A>C, NM_001350889.1:c.-103A>G, NM_001350889.1:c.-103A>C, NR_146934.1:n.117A>G, NR_146934.1:n.117A>C, XM_011516040.3:c.73A>G, XM_011516040.3:c.73A>C, XM_011516040.2:c.73A>G, XM_011516040.2:c.73A>C, XM_011516040.1:c.73A>G, XM_011516040.1:c.73A>C, XM_011516032.3:c.73A>G, XM_011516032.3:c.73A>C, XM_011516032.2:c.73A>G, XM_011516032.2:c.73A>C, XM_011516032.1:c.73A>G, XM_011516032.1:c.73A>C, XM_011516034.3:c.73A>G, XM_011516034.3:c.73A>C, XM_011516034.2:c.73A>G, XM_011516034.2:c.73A>C, XM_011516034.1:c.73A>G, XM_011516034.1:c.73A>C, XM_011516033.3:c.73A>G, XM_011516033.3:c.73A>C, XM_011516033.2:c.73A>G, XM_011516033.2:c.73A>C, XM_011516033.1:c.73A>G, XM_011516033.1:c.73A>C, XM_011516031.2:c.73A>G, XM_011516031.2:c.73A>C, XM_011516031.1:c.73A>G, XM_011516031.1:c.73A>C, XM_005249970.2:c.73A>G, XM_005249970.2:c.73A>C, XM_005249970.1:c.73A>G, XM_005249970.1:c.73A>C, XM_024446717.2:c.-324A>G, XM_024446717.2:c.-324A>C, XM_024446717.1:c.-324A>G, XM_024446717.1:c.-324A>C, XM_011516043.2:c.73A>G, XM_011516043.2:c.73A>C, XM_011516043.1:c.73A>G, XM_011516043.1:c.73A>C, XM_017011969.2:c.73A>G, XM_017011969.2:c.73A>C, XM_017011969.1:c.73A>G, XM_017011969.1:c.73A>C, XM_017011972.2:c.73A>G, XM_017011972.2:c.73A>C, XM_017011972.1:c.73A>G, XM_017011972.1:c.73A>C, XR_001744630.2:n.176A>G, XR_001744630.2:n.176A>C, XR_001744630.1:n.177A>G, XR_001744630.1:n.177A>C, XM_011516046.2:c.73A>G, XM_011516046.2:c.73A>C, XM_011516046.1:c.73A>G, XM_011516046.1:c.73A>C, XM_047420198.1:c.-246A>G, XM_047420198.1:c.-246A>C, XM_047420199.1:c.-246A>G, XM_047420199.1:c.-246A>C, XM_047420192.1:c.73A>G, XM_047420192.1:c.73A>C, XM_017011970.1:c.-64A>G, XM_017011970.1:c.-64A>C, XM_047420195.1:c.73A>G, XM_047420195.1:c.73A>C, XM_047420197.1:c.-246A>G, XM_047420197.1:c.-246A>C, XM_047420194.1:c.73A>G, XM_047420194.1:c.73A>C, NP_071890.2:p.Asn25Asp, NP_071890.2:p.Asn25His, NP_001035947.1:p.Asn25Asp, NP_001035947.1:p.Asn25His, NP_001337808.1:p.Asn25Asp, NP_001337808.1:p.Asn25His, NP_001337810.1:p.Asn25Asp, NP_001337810.1:p.Asn25His, NP_001337809.1:p.Asn25Asp, NP_001337809.1:p.Asn25His, XP_011514342.1:p.Asn25Asp, XP_011514342.1:p.Asn25His, XP_011514334.1:p.Asn25Asp, XP_011514334.1:p.Asn25His, XP_011514336.1:p.Asn25Asp, XP_011514336.1:p.Asn25His, XP_011514335.1:p.Asn25Asp, XP_011514335.1:p.Asn25His, XP_011514333.1:p.Asn25Asp, XP_011514333.1:p.Asn25His, XP_005250027.1:p.Asn25Asp, XP_005250027.1:p.Asn25His, XP_011514345.1:p.Asn25Asp, XP_011514345.1:p.Asn25His, XP_016867458.1:p.Asn25Asp, XP_016867458.1:p.Asn25His, XP_016867461.1:p.Asn25Asp, XP_016867461.1:p.Asn25His, XP_011514348.1:p.Asn25Asp, XP_011514348.1:p.Asn25His, XP_047276148.1:p.Asn25Asp, XP_047276148.1:p.Asn25His, XP_047276151.1:p.Asn25Asp, XP_047276151.1:p.Asn25His, XP_047276150.1:p.Asn25Asp, XP_047276150.1:p.Asn25His

                      11.

                      rs1445682011 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        7:144623169 (GRCh38)
                        7:144320262 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:144623168:T:C
                        Gene:
                        TPK1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency
                        MAF:
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.144623169T>C, NC_000007.13:g.144320262T>C, NG_032112.2:g.217885A>G, NM_022445.4:c.351A>G, NM_022445.3:c.351A>G, NR_146936.2:n.578A>G, NR_146936.1:n.602A>G, NM_001350884.2:c.336A>G, NM_001350884.1:c.336A>G, NM_001042482.2:c.351A>G, NM_001042482.1:c.351A>G, NM_001350879.1:c.351A>G, NM_001350895.1:c.-123A>G, NM_001350882.1:c.336A>G, NM_001350881.1:c.351A>G, NM_001350883.1:c.336A>G, NM_001350886.1:c.33A>G, NM_001350880.1:c.351A>G, NR_146935.1:n.534A>G, NM_001350893.1:c.33A>G, NM_001350894.1:c.33A>G, NM_001350885.1:c.33A>G, NM_001350887.1:c.33A>G, NM_001350889.1:c.33A>G, NR_146934.1:n.395A>G, NW_018654715.1:g.672900T>C, XM_011516040.3:c.429A>G, XM_011516040.2:c.429A>G, XM_011516040.1:c.429A>G, XM_011516047.3:c.33A>G, XM_011516047.2:c.33A>G, XM_011516047.1:c.33A>G, XM_011516032.3:c.429A>G, XM_011516032.2:c.429A>G, XM_011516032.1:c.429A>G, XM_011516034.3:c.429A>G, XM_011516034.2:c.429A>G, XM_011516034.1:c.429A>G, XM_011516033.3:c.429A>G, XM_011516033.2:c.429A>G, XM_011516033.1:c.429A>G, XM_011516037.3:c.414A>G, XM_011516037.2:c.414A>G, XM_011516037.1:c.414A>G, XM_011516039.3:c.351A>G, XM_011516039.2:c.351A>G, XM_011516039.1:c.351A>G, XM_017011981.3:c.111A>G, XM_017011981.2:c.111A>G, XM_017011981.1:c.111A>G, XM_017011980.3:c.111A>G, XM_017011980.2:c.111A>G, XM_017011980.1:c.111A>G, XM_011516031.2:c.429A>G, XM_011516031.1:c.429A>G, XM_005249970.2:c.351A>G, XM_005249970.1:c.351A>G, XM_017011971.2:c.414A>G, XM_017011971.1:c.414A>G, XM_024446717.2:c.33A>G, XM_024446717.1:c.33A>G, XM_011516043.2:c.429A>G, XM_011516043.1:c.429A>G, XM_017011969.2:c.429A>G, XM_017011969.1:c.429A>G, XM_017011972.2:c.429A>G, XM_017011972.1:c.429A>G, XR_001744630.2:n.532A>G, XR_001744630.1:n.533A>G, XM_011516046.2:c.429A>G, XM_011516046.1:c.429A>G, XM_047420198.1:c.33A>G, XM_047420199.1:c.33A>G, XM_047420192.1:c.351A>G, XM_017011970.1:c.414A>G, XM_047420195.1:c.351A>G, XM_047420197.1:c.33A>G, XM_047420194.1:c.351A>G, XM_047420196.1:c.336A>G, XM_011516048.1:c.33A>G

                        12.

                        rs1444995871 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:144531066 (GRCh38)
                          7:144228159 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:144531065:G:A
                          Gene:
                          TPK1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1441551399 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:144623209 (GRCh38)
                            7:144320302 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:144623208:C:T
                            Gene:
                            TPK1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000007.14:g.144623209C>T, NC_000007.13:g.144320302C>T, NG_032112.2:g.217845G>A, NM_022445.4:c.311G>A, NM_022445.3:c.311G>A, NR_146936.2:n.538G>A, NR_146936.1:n.562G>A, NM_001350884.2:c.296G>A, NM_001350884.1:c.296G>A, NM_001042482.2:c.311G>A, NM_001042482.1:c.311G>A, NM_001350879.1:c.311G>A, NM_001350895.1:c.-163G>A, NM_001350882.1:c.296G>A, NM_001350881.1:c.311G>A, NM_001350883.1:c.296G>A, NM_001350886.1:c.-8G>A, NM_001350880.1:c.311G>A, NR_146935.1:n.494G>A, NM_001350893.1:c.-8G>A, NM_001350894.1:c.-8G>A, NM_001350885.1:c.-8G>A, NM_001350887.1:c.-8G>A, NM_001350889.1:c.-8G>A, NR_146934.1:n.355G>A, NW_018654715.1:g.672940C>T, XM_011516040.3:c.389G>A, XM_011516040.2:c.389G>A, XM_011516040.1:c.389G>A, XM_011516047.3:c.-8G>A, XM_011516047.2:c.-8G>A, XM_011516047.1:c.-8G>A, XM_011516032.3:c.389G>A, XM_011516032.2:c.389G>A, XM_011516032.1:c.389G>A, XM_011516034.3:c.389G>A, XM_011516034.2:c.389G>A, XM_011516034.1:c.389G>A, XM_011516033.3:c.389G>A, XM_011516033.2:c.389G>A, XM_011516033.1:c.389G>A, XM_011516037.3:c.374G>A, XM_011516037.2:c.374G>A, XM_011516037.1:c.374G>A, XM_011516039.3:c.311G>A, XM_011516039.2:c.311G>A, XM_011516039.1:c.311G>A, XM_017011981.3:c.71G>A, XM_017011981.2:c.71G>A, XM_017011981.1:c.71G>A, XM_017011980.3:c.71G>A, XM_017011980.2:c.71G>A, XM_017011980.1:c.71G>A, XM_011516031.2:c.389G>A, XM_011516031.1:c.389G>A, XM_005249970.2:c.311G>A, XM_005249970.1:c.311G>A, XM_017011971.2:c.374G>A, XM_017011971.1:c.374G>A, XM_024446717.2:c.-8G>A, XM_024446717.1:c.-8G>A, XM_011516043.2:c.389G>A, XM_011516043.1:c.389G>A, XM_017011969.2:c.389G>A, XM_017011969.1:c.389G>A, XM_017011972.2:c.389G>A, XM_017011972.1:c.389G>A, XR_001744630.2:n.492G>A, XR_001744630.1:n.493G>A, XM_011516046.2:c.389G>A, XM_011516046.1:c.389G>A, XM_047420198.1:c.-8G>A, XM_047420199.1:c.-8G>A, XM_047420192.1:c.311G>A, XM_017011970.1:c.374G>A, XM_047420195.1:c.311G>A, XM_047420197.1:c.-8G>A, XM_047420194.1:c.311G>A, XM_047420196.1:c.296G>A, XM_011516048.1:c.-8G>A, NP_071890.2:p.Cys104Tyr, NP_001337813.1:p.Cys99Tyr, NP_001035947.1:p.Cys104Tyr, NP_001337808.1:p.Cys104Tyr, NP_001337811.1:p.Cys99Tyr, NP_001337810.1:p.Cys104Tyr, NP_001337812.1:p.Cys99Tyr, NP_001337809.1:p.Cys104Tyr, XP_011514342.1:p.Cys130Tyr, XP_011514334.1:p.Cys130Tyr, XP_011514336.1:p.Cys130Tyr, XP_011514335.1:p.Cys130Tyr, XP_011514339.1:p.Cys125Tyr, XP_011514341.1:p.Cys104Tyr, XP_016867470.1:p.Cys24Tyr, XP_016867469.1:p.Cys24Tyr, XP_011514333.1:p.Cys130Tyr, XP_005250027.1:p.Cys104Tyr, XP_016867460.1:p.Cys125Tyr, XP_011514345.1:p.Cys130Tyr, XP_016867458.1:p.Cys130Tyr, XP_016867461.1:p.Cys130Tyr, XP_011514348.1:p.Cys130Tyr, XP_047276148.1:p.Cys104Tyr, XP_016867459.1:p.Cys125Tyr, XP_047276151.1:p.Cys104Tyr, XP_047276150.1:p.Cys104Tyr, XP_047276152.1:p.Cys99Tyr

                            14.

                            rs1441218983 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:144548545 (GRCh38)
                              7:144245638 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:144548544:G:A
                              Gene:
                              TPK1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000007.14:g.144548545G>A, NC_000007.13:g.144245638G>A, NG_032112.2:g.292509C>T, NM_022445.4:c.559C>T, NM_022445.3:c.559C>T, NR_146936.2:n.908C>T, NR_146936.1:n.932C>T, NM_001350884.2:c.544C>T, NM_001350884.1:c.544C>T, NM_001042482.2:c.412C>T, NM_001042482.1:c.412C>T, NM_001350879.1:c.559C>T, NM_001350895.1:c.208C>T, NM_001350882.1:c.544C>T, NM_001350881.1:c.559C>T, NM_001350883.1:c.544C>T, NM_001350886.1:c.241C>T, NM_001350880.1:c.412C>T, NR_146935.1:n.595C>T, NM_001350893.1:c.241C>T, NM_001350894.1:c.241C>T, NM_001350885.1:c.241C>T, NM_001350887.1:c.241C>T, NM_001350889.1:c.241C>T, NR_146934.1:n.456C>T, NW_018654715.1:g.598281G>A, XM_011516040.3:c.637C>T, XM_011516040.2:c.637C>T, XM_011516040.1:c.637C>T, XM_011516047.3:c.241C>T, XM_011516047.2:c.241C>T, XM_011516047.1:c.241C>T, XM_011516032.3:c.637C>T, XM_011516032.2:c.637C>T, XM_011516032.1:c.637C>T, XM_011516034.3:c.637C>T, XM_011516034.2:c.637C>T, XM_011516034.1:c.637C>T, XM_011516033.3:c.637C>T, XM_011516033.2:c.637C>T, XM_011516033.1:c.637C>T, XM_011516037.3:c.622C>T, XM_011516037.2:c.622C>T, XM_011516037.1:c.622C>T, XM_011516039.3:c.559C>T, XM_011516039.2:c.559C>T, XM_011516039.1:c.559C>T, XM_017011981.3:c.319C>T, XM_017011981.2:c.319C>T, XM_017011981.1:c.319C>T, XM_017011980.3:c.319C>T, XM_017011980.2:c.319C>T, XM_017011980.1:c.319C>T, XM_011516031.2:c.637C>T, XM_011516031.1:c.637C>T, XM_005249970.2:c.559C>T, XM_005249970.1:c.559C>T, XM_017011971.2:c.622C>T, XM_017011971.1:c.622C>T, XM_024446717.2:c.241C>T, XM_024446717.1:c.241C>T, XM_011516043.2:c.490C>T, XM_011516043.1:c.490C>T, XM_017011969.2:c.637C>T, XM_017011969.1:c.637C>T, XM_017011972.2:c.637C>T, XM_017011972.1:c.637C>T, XR_001744630.2:n.1705C>T, XR_001744630.1:n.1706C>T, XM_047420198.1:c.241C>T, XM_047420192.1:c.559C>T, XM_017011970.1:c.622C>T, XM_047420195.1:c.412C>T, XM_047420197.1:c.241C>T, XM_047420194.1:c.412C>T, XM_047420196.1:c.397C>T, XM_011516048.1:c.241C>T, XM_047420199.1:c.241C>T, NP_071890.2:p.Pro187Ser, NP_001337813.1:p.Pro182Ser, NP_001035947.1:p.Pro138Ser, NP_001337808.1:p.Pro187Ser, NP_001337824.1:p.Pro70Ser, NP_001337811.1:p.Pro182Ser, NP_001337810.1:p.Pro187Ser, NP_001337812.1:p.Pro182Ser, NP_001337815.1:p.Pro81Ser, NP_001337809.1:p.Pro138Ser, NP_001337822.1:p.Pro81Ser, NP_001337823.1:p.Pro81Ser, NP_001337814.1:p.Pro81Ser, NP_001337816.1:p.Pro81Ser, NP_001337818.1:p.Pro81Ser, XP_011514342.1:p.Pro213Ser, XP_011514349.1:p.Pro81Ser, XP_011514334.1:p.Pro213Ser, XP_011514336.1:p.Pro213Ser, XP_011514335.1:p.Pro213Ser, XP_011514339.1:p.Pro208Ser, XP_011514341.1:p.Pro187Ser, XP_016867470.1:p.Pro107Ser, XP_016867469.1:p.Pro107Ser, XP_011514333.1:p.Pro213Ser, XP_005250027.1:p.Pro187Ser, XP_016867460.1:p.Pro208Ser, XP_024302485.1:p.Pro81Ser, XP_011514345.1:p.Pro164Ser, XP_016867458.1:p.Pro213Ser, XP_016867461.1:p.Pro213Ser, XP_047276154.1:p.Pro81Ser, XP_047276148.1:p.Pro187Ser, XP_016867459.1:p.Pro208Ser, XP_047276151.1:p.Pro138Ser, XP_047276153.1:p.Pro81Ser, XP_047276150.1:p.Pro138Ser, XP_047276152.1:p.Pro133Ser, XP_011514350.1:p.Pro81Ser, XP_047276155.1:p.Pro81Ser

                              15.

                              rs1432755843 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:144531113 (GRCh38)
                                7:144228206 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:144531112:G:A
                                Gene:
                                TPK1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                HGVS:

                                16.

                                rs1427098734 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:144835568 (GRCh38)
                                  7:144532661 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:144835567:A:G
                                  Gene:
                                  TPK1 (Varview)
                                  Functional Consequence:
                                  missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.144835568A>G, NC_000007.13:g.144532661A>G, NG_032112.2:g.5486T>C, NM_022445.4:c.35T>C, NM_022445.3:c.35T>C, NM_001042482.2:c.35T>C, NM_001042482.1:c.35T>C, NM_001350879.1:c.35T>C, NM_001350895.1:c.-439T>C, NM_001350882.1:c.-102T>C, NM_001350881.1:c.35T>C, NM_001350880.1:c.35T>C, NR_146935.1:n.288T>C, NM_001350893.1:c.-214T>C, NM_001350894.1:c.-211T>C, XM_011516040.3:c.35T>C, XM_011516040.2:c.35T>C, XM_011516040.1:c.35T>C, XM_011516032.3:c.35T>C, XM_011516032.2:c.35T>C, XM_011516032.1:c.35T>C, XM_011516034.3:c.35T>C, XM_011516034.2:c.35T>C, XM_011516034.1:c.35T>C, XM_011516033.3:c.35T>C, XM_011516033.2:c.35T>C, XM_011516033.1:c.35T>C, XM_011516031.2:c.35T>C, XM_011516031.1:c.35T>C, XM_005249970.2:c.35T>C, XM_005249970.1:c.35T>C, XM_011516043.2:c.35T>C, XM_011516043.1:c.35T>C, XM_017011969.2:c.35T>C, XM_017011969.1:c.35T>C, XM_017011972.2:c.35T>C, XM_017011972.1:c.35T>C, XR_001744630.2:n.138T>C, XR_001744630.1:n.139T>C, XM_011516046.2:c.35T>C, XM_011516046.1:c.35T>C, XM_047420198.1:c.-932T>C, XM_047420199.1:c.-932T>C, XM_047420192.1:c.35T>C, XM_047420195.1:c.35T>C, XM_047420194.1:c.35T>C, NP_071890.2:p.Leu12Pro, NP_001035947.1:p.Leu12Pro, NP_001337808.1:p.Leu12Pro, NP_001337810.1:p.Leu12Pro, NP_001337809.1:p.Leu12Pro, XP_011514342.1:p.Leu12Pro, XP_011514334.1:p.Leu12Pro, XP_011514336.1:p.Leu12Pro, XP_011514335.1:p.Leu12Pro, XP_011514333.1:p.Leu12Pro, XP_005250027.1:p.Leu12Pro, XP_011514345.1:p.Leu12Pro, XP_016867458.1:p.Leu12Pro, XP_016867461.1:p.Leu12Pro, XP_011514348.1:p.Leu12Pro, XP_047276148.1:p.Leu12Pro, XP_047276151.1:p.Leu12Pro, XP_047276150.1:p.Leu12Pro

                                  17.

                                  rs1426420988 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    7:144765884 (GRCh38)
                                    7:144462977 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:144765883:G:C
                                    Gene:
                                    TPK1 (Varview)
                                    Functional Consequence:
                                    missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000023/6 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.144765884G>C, NC_000007.13:g.144462977G>C, NG_032112.2:g.75170C>G, NM_022445.4:c.111C>G, NM_022445.3:c.111C>G, NM_001042482.2:c.111C>G, NM_001042482.1:c.111C>G, NM_001350879.1:c.111C>G, NM_001350895.1:c.-363C>G, NM_001350882.1:c.-26C>G, NM_001350881.1:c.111C>G, NM_001350883.1:c.-26C>G, NM_001350886.1:c.-286C>G, NM_001350880.1:c.111C>G, NR_146935.1:n.364C>G, NM_001350893.1:c.-138C>G, NM_001350894.1:c.-135C>G, NM_001350885.1:c.-138C>G, NM_001350887.1:c.-135C>G, NM_001350889.1:c.-65C>G, NR_146934.1:n.155C>G, XM_011516040.3:c.111C>G, XM_011516040.2:c.111C>G, XM_011516040.1:c.111C>G, XM_011516032.3:c.111C>G, XM_011516032.2:c.111C>G, XM_011516032.1:c.111C>G, XM_011516034.3:c.111C>G, XM_011516034.2:c.111C>G, XM_011516034.1:c.111C>G, XM_011516033.3:c.111C>G, XM_011516033.2:c.111C>G, XM_011516033.1:c.111C>G, XM_011516031.2:c.111C>G, XM_011516031.1:c.111C>G, XM_005249970.2:c.111C>G, XM_005249970.1:c.111C>G, XM_024446717.2:c.-286C>G, XM_024446717.1:c.-286C>G, XM_011516043.2:c.111C>G, XM_011516043.1:c.111C>G, XM_017011969.2:c.111C>G, XM_017011969.1:c.111C>G, XM_017011972.2:c.111C>G, XM_017011972.1:c.111C>G, XR_001744630.2:n.214C>G, XR_001744630.1:n.215C>G, XM_011516046.2:c.111C>G, XM_011516046.1:c.111C>G, XM_047420198.1:c.-208C>G, XM_047420199.1:c.-208C>G, XM_047420192.1:c.111C>G, XM_017011970.1:c.-26C>G, XM_047420195.1:c.111C>G, XM_047420197.1:c.-208C>G, XM_047420194.1:c.111C>G, NP_071890.2:p.Asn37Lys, NP_001035947.1:p.Asn37Lys, NP_001337808.1:p.Asn37Lys, NP_001337810.1:p.Asn37Lys, NP_001337809.1:p.Asn37Lys, XP_011514342.1:p.Asn37Lys, XP_011514334.1:p.Asn37Lys, XP_011514336.1:p.Asn37Lys, XP_011514335.1:p.Asn37Lys, XP_011514333.1:p.Asn37Lys, XP_005250027.1:p.Asn37Lys, XP_011514345.1:p.Asn37Lys, XP_016867458.1:p.Asn37Lys, XP_016867461.1:p.Asn37Lys, XP_011514348.1:p.Asn37Lys, XP_047276148.1:p.Asn37Lys, XP_047276151.1:p.Asn37Lys, XP_047276150.1:p.Asn37Lys

                                    18.

                                    rs1425413327 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      7:144835563 (GRCh38)
                                      7:144532656 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:144835562:T:C,NC_000007.14:144835562:T:G
                                      Gene:
                                      TPK1 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000007.14:g.144835563T>C, NC_000007.14:g.144835563T>G, NC_000007.13:g.144532656T>C, NC_000007.13:g.144532656T>G, NG_032112.2:g.5491A>G, NG_032112.2:g.5491A>C, NM_022445.4:c.40A>G, NM_022445.4:c.40A>C, NM_022445.3:c.40A>G, NM_022445.3:c.40A>C, NM_001042482.2:c.40A>G, NM_001042482.2:c.40A>C, NM_001042482.1:c.40A>G, NM_001042482.1:c.40A>C, NM_001350879.1:c.40A>G, NM_001350879.1:c.40A>C, NM_001350895.1:c.-434A>G, NM_001350895.1:c.-434A>C, NM_001350882.1:c.-97A>G, NM_001350882.1:c.-97A>C, NM_001350881.1:c.40A>G, NM_001350881.1:c.40A>C, NM_001350880.1:c.40A>G, NM_001350880.1:c.40A>C, NR_146935.1:n.293A>G, NR_146935.1:n.293A>C, NM_001350893.1:c.-209A>G, NM_001350893.1:c.-209A>C, NM_001350894.1:c.-206A>G, NM_001350894.1:c.-206A>C, XM_011516040.3:c.40A>G, XM_011516040.3:c.40A>C, XM_011516040.2:c.40A>G, XM_011516040.2:c.40A>C, XM_011516040.1:c.40A>G, XM_011516040.1:c.40A>C, XM_011516032.3:c.40A>G, XM_011516032.3:c.40A>C, XM_011516032.2:c.40A>G, XM_011516032.2:c.40A>C, XM_011516032.1:c.40A>G, XM_011516032.1:c.40A>C, XM_011516034.3:c.40A>G, XM_011516034.3:c.40A>C, XM_011516034.2:c.40A>G, XM_011516034.2:c.40A>C, XM_011516034.1:c.40A>G, XM_011516034.1:c.40A>C, XM_011516033.3:c.40A>G, XM_011516033.3:c.40A>C, XM_011516033.2:c.40A>G, XM_011516033.2:c.40A>C, XM_011516033.1:c.40A>G, XM_011516033.1:c.40A>C, XM_011516031.2:c.40A>G, XM_011516031.2:c.40A>C, XM_011516031.1:c.40A>G, XM_011516031.1:c.40A>C, XM_005249970.2:c.40A>G, XM_005249970.2:c.40A>C, XM_005249970.1:c.40A>G, XM_005249970.1:c.40A>C, XM_011516043.2:c.40A>G, XM_011516043.2:c.40A>C, XM_011516043.1:c.40A>G, XM_011516043.1:c.40A>C, XM_017011969.2:c.40A>G, XM_017011969.2:c.40A>C, XM_017011969.1:c.40A>G, XM_017011969.1:c.40A>C, XM_017011972.2:c.40A>G, XM_017011972.2:c.40A>C, XM_017011972.1:c.40A>G, XM_017011972.1:c.40A>C, XR_001744630.2:n.143A>G, XR_001744630.2:n.143A>C, XR_001744630.1:n.144A>G, XR_001744630.1:n.144A>C, XM_011516046.2:c.40A>G, XM_011516046.2:c.40A>C, XM_011516046.1:c.40A>G, XM_011516046.1:c.40A>C, XM_047420198.1:c.-927A>G, XM_047420198.1:c.-927A>C, XM_047420199.1:c.-927A>G, XM_047420199.1:c.-927A>C, XM_047420192.1:c.40A>G, XM_047420192.1:c.40A>C, XM_047420195.1:c.40A>G, XM_047420195.1:c.40A>C, XM_047420194.1:c.40A>G, XM_047420194.1:c.40A>C, NP_071890.2:p.Thr14Ala, NP_071890.2:p.Thr14Pro, NP_001035947.1:p.Thr14Ala, NP_001035947.1:p.Thr14Pro, NP_001337808.1:p.Thr14Ala, NP_001337808.1:p.Thr14Pro, NP_001337810.1:p.Thr14Ala, NP_001337810.1:p.Thr14Pro, NP_001337809.1:p.Thr14Ala, NP_001337809.1:p.Thr14Pro, XP_011514342.1:p.Thr14Ala, XP_011514342.1:p.Thr14Pro, XP_011514334.1:p.Thr14Ala, XP_011514334.1:p.Thr14Pro, XP_011514336.1:p.Thr14Ala, XP_011514336.1:p.Thr14Pro, XP_011514335.1:p.Thr14Ala, XP_011514335.1:p.Thr14Pro, XP_011514333.1:p.Thr14Ala, XP_011514333.1:p.Thr14Pro, XP_005250027.1:p.Thr14Ala, XP_005250027.1:p.Thr14Pro, XP_011514345.1:p.Thr14Ala, XP_011514345.1:p.Thr14Pro, XP_016867458.1:p.Thr14Ala, XP_016867458.1:p.Thr14Pro, XP_016867461.1:p.Thr14Ala, XP_016867461.1:p.Thr14Pro, XP_011514348.1:p.Thr14Ala, XP_011514348.1:p.Thr14Pro, XP_047276148.1:p.Thr14Ala, XP_047276148.1:p.Thr14Pro, XP_047276151.1:p.Thr14Ala, XP_047276151.1:p.Thr14Pro, XP_047276150.1:p.Thr14Ala, XP_047276150.1:p.Thr14Pro

                                      19.

                                      rs1423121810 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:144591423 (GRCh38)
                                        7:144288516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:144591422:T:C
                                        Gene:
                                        TPK1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000016/4 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.144591423T>C, NC_000007.13:g.144288516T>C, NG_032112.2:g.249631A>G, NM_022445.4:c.501A>G, NM_022445.3:c.501A>G, NR_146936.2:n.850A>G, NR_146936.1:n.874A>G, NM_001350884.2:c.486A>G, NM_001350884.1:c.486A>G, NM_001350879.1:c.501A>G, NM_001350895.1:c.150A>G, NM_001350882.1:c.486A>G, NM_001350881.1:c.501A>G, NM_001350883.1:c.486A>G, NM_001350886.1:c.183A>G, NM_001350893.1:c.183A>G, NM_001350894.1:c.183A>G, NM_001350885.1:c.183A>G, NM_001350887.1:c.183A>G, NM_001350889.1:c.183A>G, NW_018654715.1:g.641154T>C, XM_011516040.3:c.579A>G, XM_011516040.2:c.579A>G, XM_011516040.1:c.579A>G, XM_011516047.3:c.183A>G, XM_011516047.2:c.183A>G, XM_011516047.1:c.183A>G, XM_011516032.3:c.579A>G, XM_011516032.2:c.579A>G, XM_011516032.1:c.579A>G, XM_011516034.3:c.579A>G, XM_011516034.2:c.579A>G, XM_011516034.1:c.579A>G, XM_011516033.3:c.579A>G, XM_011516033.2:c.579A>G, XM_011516033.1:c.579A>G, XM_011516037.3:c.564A>G, XM_011516037.2:c.564A>G, XM_011516037.1:c.564A>G, XM_011516039.3:c.501A>G, XM_011516039.2:c.501A>G, XM_011516039.1:c.501A>G, XM_017011981.3:c.261A>G, XM_017011981.2:c.261A>G, XM_017011981.1:c.261A>G, XM_017011980.3:c.261A>G, XM_017011980.2:c.261A>G, XM_017011980.1:c.261A>G, XM_011516031.2:c.579A>G, XM_011516031.1:c.579A>G, XM_005249970.2:c.501A>G, XM_005249970.1:c.501A>G, XM_017011971.2:c.564A>G, XM_017011971.1:c.564A>G, XM_024446717.2:c.183A>G, XM_024446717.1:c.183A>G, XM_017011969.2:c.579A>G, XM_017011969.1:c.579A>G, XM_017011972.2:c.579A>G, XM_017011972.1:c.579A>G, XR_001744630.2:n.682A>G, XR_001744630.1:n.683A>G, XM_047420198.1:c.183A>G, XM_047420192.1:c.501A>G, XM_017011970.1:c.564A>G, XM_047420197.1:c.183A>G, XM_011516048.1:c.183A>G, XM_047420199.1:c.183A>G

                                        20.

                                        rs1417315589 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          7:144591529 (GRCh38)
                                          7:144288622 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:144591528:A:G
                                          Gene:
                                          TPK1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                          Clinical significance:
                                          pathogenic
                                          HGVS:
                                          NC_000007.14:g.144591529A>G, NC_000007.13:g.144288622A>G, NG_032112.2:g.249525T>C, NM_022445.4:c.395T>C, NM_022445.3:c.395T>C, NR_146936.2:n.744T>C, NR_146936.1:n.768T>C, NM_001350884.2:c.380T>C, NM_001350884.1:c.380T>C, NM_001350879.1:c.395T>C, NM_001350895.1:c.44T>C, NM_001350882.1:c.380T>C, NM_001350881.1:c.395T>C, NM_001350883.1:c.380T>C, NM_001350886.1:c.77T>C, NM_001350893.1:c.77T>C, NM_001350894.1:c.77T>C, NM_001350885.1:c.77T>C, NM_001350887.1:c.77T>C, NM_001350889.1:c.77T>C, NW_018654715.1:g.641260A>G, XM_011516040.3:c.473T>C, XM_011516040.2:c.473T>C, XM_011516040.1:c.473T>C, XM_011516047.3:c.77T>C, XM_011516047.2:c.77T>C, XM_011516047.1:c.77T>C, XM_011516032.3:c.473T>C, XM_011516032.2:c.473T>C, XM_011516032.1:c.473T>C, XM_011516034.3:c.473T>C, XM_011516034.2:c.473T>C, XM_011516034.1:c.473T>C, XM_011516033.3:c.473T>C, XM_011516033.2:c.473T>C, XM_011516033.1:c.473T>C, XM_011516037.3:c.458T>C, XM_011516037.2:c.458T>C, XM_011516037.1:c.458T>C, XM_011516039.3:c.395T>C, XM_011516039.2:c.395T>C, XM_011516039.1:c.395T>C, XM_017011981.3:c.155T>C, XM_017011981.2:c.155T>C, XM_017011981.1:c.155T>C, XM_017011980.3:c.155T>C, XM_017011980.2:c.155T>C, XM_017011980.1:c.155T>C, XM_011516031.2:c.473T>C, XM_011516031.1:c.473T>C, XM_005249970.2:c.395T>C, XM_005249970.1:c.395T>C, XM_017011971.2:c.458T>C, XM_017011971.1:c.458T>C, XM_024446717.2:c.77T>C, XM_024446717.1:c.77T>C, XM_017011969.2:c.473T>C, XM_017011969.1:c.473T>C, XM_017011972.2:c.473T>C, XM_017011972.1:c.473T>C, XR_001744630.2:n.576T>C, XR_001744630.1:n.577T>C, XM_047420198.1:c.77T>C, XM_047420192.1:c.395T>C, XM_017011970.1:c.458T>C, XM_047420197.1:c.77T>C, XM_011516048.1:c.77T>C, XM_047420199.1:c.77T>C, NP_071890.2:p.Phe132Ser, NP_001337813.1:p.Phe127Ser, NP_001337808.1:p.Phe132Ser, NP_001337824.1:p.Phe15Ser, NP_001337811.1:p.Phe127Ser, NP_001337810.1:p.Phe132Ser, NP_001337812.1:p.Phe127Ser, NP_001337815.1:p.Phe26Ser, NP_001337822.1:p.Phe26Ser, NP_001337823.1:p.Phe26Ser, NP_001337814.1:p.Phe26Ser, NP_001337816.1:p.Phe26Ser, NP_001337818.1:p.Phe26Ser, XP_011514342.1:p.Phe158Ser, XP_011514349.1:p.Phe26Ser, XP_011514334.1:p.Phe158Ser, XP_011514336.1:p.Phe158Ser, XP_011514335.1:p.Phe158Ser, XP_011514339.1:p.Phe153Ser, XP_011514341.1:p.Phe132Ser, XP_016867470.1:p.Phe52Ser, XP_016867469.1:p.Phe52Ser, XP_011514333.1:p.Phe158Ser, XP_005250027.1:p.Phe132Ser, XP_016867460.1:p.Phe153Ser, XP_024302485.1:p.Phe26Ser, XP_016867458.1:p.Phe158Ser, XP_016867461.1:p.Phe158Ser, XP_047276154.1:p.Phe26Ser, XP_047276148.1:p.Phe132Ser, XP_016867459.1:p.Phe153Ser, XP_047276153.1:p.Phe26Ser, XP_011514350.1:p.Phe26Ser, XP_047276155.1:p.Phe26Ser

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