U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 636

1.

rs1487056858 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    7:144452463 (GRCh38)
    7:144149556 (GRCh37)
    Canonical SPDI:
    NC_000007.14:144452462:T:C
    Gene:
    TPK1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000007.14:g.144452463T>C, NC_000007.13:g.144149556T>C, NG_032112.2:g.388591A>G, NM_022445.4:c.*1082A>G, NM_022445.3:c.*1082A>G, NR_146936.2:n.2269A>G, NR_146936.1:n.2293A>G, NM_001350884.2:c.*1082A>G, NM_001350884.1:c.*1082A>G, NM_001042482.2:c.*1082A>G, NM_001042482.1:c.*1082A>G, NM_001350879.1:c.*1082A>G, NM_001350895.1:c.*1082A>G, NM_001350882.1:c.*1082A>G, NM_001350881.1:c.*1194A>G, NM_001350883.1:c.*1082A>G, NM_001350886.1:c.*1082A>G, NM_001350880.1:c.*1082A>G, NR_146935.1:n.1850A>G, NM_001350893.1:c.*1082A>G, NM_001350894.1:c.*1082A>G, NM_001350885.1:c.*1082A>G, NM_001350887.1:c.*1082A>G, NM_001350889.1:c.*1082A>G, NR_146934.1:n.1711A>G, NW_018654715.1:g.501920T>C, XM_011516047.3:c.*1082A>G, XM_011516047.2:c.*1082A>G, XM_011516047.1:c.*1082A>G, XM_011516032.3:c.*1082A>G, XM_011516032.2:c.*1082A>G, XM_011516032.1:c.*1082A>G, XM_011516034.3:c.*1082A>G, XM_011516034.2:c.*1082A>G, XM_011516034.1:c.*1082A>G, XM_011516033.3:c.*1082A>G, XM_011516033.2:c.*1082A>G, XM_011516033.1:c.*1082A>G, XM_011516037.3:c.*1082A>G, XM_011516037.2:c.*1082A>G, XM_011516037.1:c.*1082A>G, XM_011516039.3:c.*1082A>G, XM_011516039.2:c.*1082A>G, XM_011516039.1:c.*1082A>G, XM_017011981.3:c.*1082A>G, XM_017011981.2:c.*1082A>G, XM_017011981.1:c.*1082A>G, XM_017011980.3:c.*1082A>G, XM_017011980.2:c.*1082A>G, XM_017011980.1:c.*1082A>G, XM_011516031.2:c.*1082A>G, XM_011516031.1:c.*1082A>G, XM_005249970.2:c.*1082A>G, XM_005249970.1:c.*1082A>G, XM_017011971.2:c.*1082A>G, XM_017011971.1:c.*1082A>G, XM_024446717.2:c.*1082A>G, XM_024446717.1:c.*1082A>G, XM_011516043.2:c.*1082A>G, XM_011516043.1:c.*1082A>G, XM_047420198.1:c.*1082A>G, XM_047420199.1:c.*1082A>G, XM_047420192.1:c.*1082A>G, XM_017011970.1:c.*1082A>G, XM_047420195.1:c.*1082A>G, XM_047420197.1:c.*1082A>G, XM_047420194.1:c.*1082A>G, XM_047420196.1:c.*1082A>G, XM_011516048.1:c.*1082A>G

    2.

    rs1485941657 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      7:144835813 (GRCh38)
      7:144532906 (GRCh37)
      Canonical SPDI:
      NC_000007.14:144835812:G:A,NC_000007.14:144835812:G:C
      Gene:
      TPK1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.00016/1 (1000Genomes)
      HGVS:

      3.

      rs1484827347 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        7:144452099 (GRCh38)
        7:144149192 (GRCh37)
        Canonical SPDI:
        NC_000007.14:144452098:C:G
        Gene:
        TPK1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000038/10 (TOPMED)
        G=0.000043/6 (GnomAD)
        HGVS:
        NC_000007.14:g.144452099C>G, NC_000007.13:g.144149192C>G, NG_032112.2:g.388955G>C, NM_022445.4:c.*1446G>C, NM_022445.3:c.*1446G>C, NR_146936.2:n.2633G>C, NR_146936.1:n.2657G>C, NM_001350884.2:c.*1446G>C, NM_001350884.1:c.*1446G>C, NM_001042482.2:c.*1446G>C, NM_001042482.1:c.*1446G>C, NM_001350879.1:c.*1446G>C, NM_001350895.1:c.*1446G>C, NM_001350882.1:c.*1446G>C, NM_001350881.1:c.*1558G>C, NM_001350883.1:c.*1446G>C, NM_001350886.1:c.*1446G>C, NM_001350880.1:c.*1446G>C, NR_146935.1:n.2214G>C, NM_001350893.1:c.*1446G>C, NM_001350894.1:c.*1446G>C, NM_001350885.1:c.*1446G>C, NM_001350887.1:c.*1446G>C, NM_001350889.1:c.*1446G>C, NR_146934.1:n.2075G>C, NW_018654715.1:g.501556C>G, XM_011516047.3:c.*1446G>C, XM_011516047.2:c.*1446G>C, XM_011516047.1:c.*1446G>C, XM_011516032.3:c.*1446G>C, XM_011516032.2:c.*1446G>C, XM_011516032.1:c.*1446G>C, XM_011516034.3:c.*1446G>C, XM_011516034.2:c.*1446G>C, XM_011516034.1:c.*1446G>C, XM_011516033.3:c.*1446G>C, XM_011516033.2:c.*1446G>C, XM_011516033.1:c.*1446G>C, XM_011516037.3:c.*1446G>C, XM_011516037.2:c.*1446G>C, XM_011516037.1:c.*1446G>C, XM_011516039.3:c.*1446G>C, XM_011516039.2:c.*1446G>C, XM_011516039.1:c.*1446G>C, XM_017011981.3:c.*1446G>C, XM_017011981.2:c.*1446G>C, XM_017011981.1:c.*1446G>C, XM_017011980.3:c.*1446G>C, XM_017011980.2:c.*1446G>C, XM_017011980.1:c.*1446G>C, XM_011516031.2:c.*1446G>C, XM_011516031.1:c.*1446G>C, XM_005249970.2:c.*1446G>C, XM_005249970.1:c.*1446G>C, XM_017011971.2:c.*1446G>C, XM_017011971.1:c.*1446G>C, XM_024446717.2:c.*1446G>C, XM_024446717.1:c.*1446G>C, XM_011516043.2:c.*1446G>C, XM_011516043.1:c.*1446G>C, XM_047420198.1:c.*1446G>C, XM_047420199.1:c.*1446G>C, XM_047420192.1:c.*1446G>C, XM_017011970.1:c.*1446G>C, XM_047420195.1:c.*1446G>C, XM_047420197.1:c.*1446G>C, XM_047420194.1:c.*1446G>C, XM_047420196.1:c.*1446G>C, XM_011516048.1:c.*1446G>C

        4.

        rs1483845167 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          7:144835831 (GRCh38)
          7:144532924 (GRCh37)
          Canonical SPDI:
          NC_000007.14:144835830:C:G
          Gene:
          TPK1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1483563672 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            7:144452983 (GRCh38)
            7:144150076 (GRCh37)
            Canonical SPDI:
            NC_000007.14:144452982:A:G
            Gene:
            TPK1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000029/4 (GnomAD)
            HGVS:
            NC_000007.14:g.144452983A>G, NC_000007.13:g.144150076A>G, NG_032112.2:g.388071T>C, NM_022445.4:c.*562T>C, NM_022445.3:c.*562T>C, NR_146936.2:n.1749T>C, NR_146936.1:n.1773T>C, NM_001350884.2:c.*562T>C, NM_001350884.1:c.*562T>C, NM_001042482.2:c.*562T>C, NM_001042482.1:c.*562T>C, NM_001350879.1:c.*562T>C, NM_001350895.1:c.*562T>C, NM_001350882.1:c.*562T>C, NM_001350881.1:c.*674T>C, NM_001350883.1:c.*562T>C, NM_001350886.1:c.*562T>C, NM_001350880.1:c.*562T>C, NR_146935.1:n.1330T>C, NM_001350893.1:c.*562T>C, NM_001350894.1:c.*562T>C, NM_001350885.1:c.*562T>C, NM_001350887.1:c.*562T>C, NM_001350889.1:c.*562T>C, NR_146934.1:n.1191T>C, NW_018654715.1:g.502440A>G, XM_011516047.3:c.*562T>C, XM_011516047.2:c.*562T>C, XM_011516047.1:c.*562T>C, XM_011516032.3:c.*562T>C, XM_011516032.2:c.*562T>C, XM_011516032.1:c.*562T>C, XM_011516034.3:c.*562T>C, XM_011516034.2:c.*562T>C, XM_011516034.1:c.*562T>C, XM_011516033.3:c.*562T>C, XM_011516033.2:c.*562T>C, XM_011516033.1:c.*562T>C, XM_011516037.3:c.*562T>C, XM_011516037.2:c.*562T>C, XM_011516037.1:c.*562T>C, XM_011516039.3:c.*562T>C, XM_011516039.2:c.*562T>C, XM_011516039.1:c.*562T>C, XM_017011981.3:c.*562T>C, XM_017011981.2:c.*562T>C, XM_017011981.1:c.*562T>C, XM_017011980.3:c.*562T>C, XM_017011980.2:c.*562T>C, XM_017011980.1:c.*562T>C, XM_011516031.2:c.*562T>C, XM_011516031.1:c.*562T>C, XM_005249970.2:c.*562T>C, XM_005249970.1:c.*562T>C, XM_017011971.2:c.*562T>C, XM_017011971.1:c.*562T>C, XM_024446717.2:c.*562T>C, XM_024446717.1:c.*562T>C, XM_011516043.2:c.*562T>C, XM_011516043.1:c.*562T>C, XM_047420198.1:c.*562T>C, XM_047420199.1:c.*562T>C, XM_047420192.1:c.*562T>C, XM_017011970.1:c.*562T>C, XM_047420195.1:c.*562T>C, XM_047420197.1:c.*562T>C, XM_047420194.1:c.*562T>C, XM_047420196.1:c.*562T>C, XM_011516048.1:c.*562T>C

            6.

            rs1482797114 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              7:144453532 (GRCh38)
              7:144150625 (GRCh37)
              Canonical SPDI:
              NC_000007.14:144453531:G:A
              Gene:
              TPK1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000007.14:g.144453532G>A, NC_000007.13:g.144150625G>A, NG_032112.2:g.387522C>T, NM_022445.4:c.*13C>T, NM_022445.3:c.*13C>T, NR_146936.2:n.1200C>T, NR_146936.1:n.1224C>T, NM_001350884.2:c.*13C>T, NM_001350884.1:c.*13C>T, NM_001042482.2:c.*13C>T, NM_001042482.1:c.*13C>T, NM_001350879.1:c.*13C>T, NM_001350895.1:c.*13C>T, NM_001350882.1:c.*13C>T, NM_001350881.1:c.*125C>T, NM_001350883.1:c.*13C>T, NM_001350886.1:c.*13C>T, NM_001350880.1:c.*13C>T, NR_146935.1:n.781C>T, NM_001350893.1:c.*13C>T, NM_001350894.1:c.*13C>T, NM_001350885.1:c.*13C>T, NM_001350887.1:c.*13C>T, NM_001350889.1:c.*13C>T, NR_146934.1:n.642C>T, NW_018654715.1:g.502989G>A, XM_011516047.3:c.*13C>T, XM_011516047.2:c.*13C>T, XM_011516047.1:c.*13C>T, XM_011516032.3:c.*13C>T, XM_011516032.2:c.*13C>T, XM_011516032.1:c.*13C>T, XM_011516034.3:c.*13C>T, XM_011516034.2:c.*13C>T, XM_011516034.1:c.*13C>T, XM_011516033.3:c.*13C>T, XM_011516033.2:c.*13C>T, XM_011516033.1:c.*13C>T, XM_011516037.3:c.*13C>T, XM_011516037.2:c.*13C>T, XM_011516037.1:c.*13C>T, XM_011516039.3:c.*13C>T, XM_011516039.2:c.*13C>T, XM_011516039.1:c.*13C>T, XM_017011981.3:c.*13C>T, XM_017011981.2:c.*13C>T, XM_017011981.1:c.*13C>T, XM_017011980.3:c.*13C>T, XM_017011980.2:c.*13C>T, XM_017011980.1:c.*13C>T, XM_011516031.2:c.*13C>T, XM_011516031.1:c.*13C>T, XM_005249970.2:c.*13C>T, XM_005249970.1:c.*13C>T, XM_017011971.2:c.*13C>T, XM_017011971.1:c.*13C>T, XM_024446717.2:c.*13C>T, XM_024446717.1:c.*13C>T, XM_011516043.2:c.*13C>T, XM_011516043.1:c.*13C>T, XM_047420198.1:c.*13C>T, XM_047420199.1:c.*13C>T, XM_047420192.1:c.*13C>T, XM_017011970.1:c.*13C>T, XM_047420195.1:c.*13C>T, XM_047420197.1:c.*13C>T, XM_047420194.1:c.*13C>T, XM_047420196.1:c.*13C>T, XM_011516048.1:c.*13C>T

              7.

              rs1480644278 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:144452717 (GRCh38)
                7:144149810 (GRCh37)
                Canonical SPDI:
                NC_000007.14:144452716:C:T
                Gene:
                TPK1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000021/3 (GnomAD)
                T=0.000034/9 (TOPMED)
                HGVS:
                NC_000007.14:g.144452717C>T, NC_000007.13:g.144149810C>T, NG_032112.2:g.388337G>A, NM_022445.4:c.*828G>A, NM_022445.3:c.*828G>A, NR_146936.2:n.2015G>A, NR_146936.1:n.2039G>A, NM_001350884.2:c.*828G>A, NM_001350884.1:c.*828G>A, NM_001042482.2:c.*828G>A, NM_001042482.1:c.*828G>A, NM_001350879.1:c.*828G>A, NM_001350895.1:c.*828G>A, NM_001350882.1:c.*828G>A, NM_001350881.1:c.*940G>A, NM_001350883.1:c.*828G>A, NM_001350886.1:c.*828G>A, NM_001350880.1:c.*828G>A, NR_146935.1:n.1596G>A, NM_001350893.1:c.*828G>A, NM_001350894.1:c.*828G>A, NM_001350885.1:c.*828G>A, NM_001350887.1:c.*828G>A, NM_001350889.1:c.*828G>A, NR_146934.1:n.1457G>A, NW_018654715.1:g.502174C>T, XM_011516047.3:c.*828G>A, XM_011516047.2:c.*828G>A, XM_011516047.1:c.*828G>A, XM_011516032.3:c.*828G>A, XM_011516032.2:c.*828G>A, XM_011516032.1:c.*828G>A, XM_011516034.3:c.*828G>A, XM_011516034.2:c.*828G>A, XM_011516034.1:c.*828G>A, XM_011516033.3:c.*828G>A, XM_011516033.2:c.*828G>A, XM_011516033.1:c.*828G>A, XM_011516037.3:c.*828G>A, XM_011516037.2:c.*828G>A, XM_011516037.1:c.*828G>A, XM_011516039.3:c.*828G>A, XM_011516039.2:c.*828G>A, XM_011516039.1:c.*828G>A, XM_017011981.3:c.*828G>A, XM_017011981.2:c.*828G>A, XM_017011981.1:c.*828G>A, XM_017011980.3:c.*828G>A, XM_017011980.2:c.*828G>A, XM_017011980.1:c.*828G>A, XM_011516031.2:c.*828G>A, XM_011516031.1:c.*828G>A, XM_005249970.2:c.*828G>A, XM_005249970.1:c.*828G>A, XM_017011971.2:c.*828G>A, XM_017011971.1:c.*828G>A, XM_024446717.2:c.*828G>A, XM_024446717.1:c.*828G>A, XM_011516043.2:c.*828G>A, XM_011516043.1:c.*828G>A, XM_047420198.1:c.*828G>A, XM_047420199.1:c.*828G>A, XM_047420192.1:c.*828G>A, XM_017011970.1:c.*828G>A, XM_047420195.1:c.*828G>A, XM_047420197.1:c.*828G>A, XM_047420194.1:c.*828G>A, XM_047420196.1:c.*828G>A, XM_011516048.1:c.*828G>A

                8.

                rs1479496790 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  7:144835721 (GRCh38)
                  7:144532814 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:144835720:C:A,NC_000007.14:144835720:C:G,NC_000007.14:144835720:C:T
                  Gene:
                  TPK1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000015/4 (TOPMED)
                  HGVS:

                  9.

                  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

                    10.

                    rs1477084862 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAT>- [Show Flanks]
                      Chromosome:
                      7:144453383 (GRCh38)
                      7:144150476 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:144453380:ATAAT:AT
                      Gene:
                      TPK1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AT=0./0 (ALFA)
                      -=0.000014/2 (GnomAD)
                      -=0.000026/7 (TOPMED)
                      HGVS:
                      NC_000007.14:g.144453383_144453385del, NC_000007.13:g.144150476_144150478del, NG_032112.2:g.387671_387673del, NM_022445.4:c.*162_*164del, NM_022445.3:c.*162_*164del, NR_146936.2:n.1349_1351del, NR_146936.1:n.1373_1375del, NM_001350884.2:c.*162_*164del, NM_001350884.1:c.*162_*164del, NM_001042482.2:c.*162_*164del, NM_001042482.1:c.*162_*164del, NM_001350879.1:c.*162_*164del, NM_001350895.1:c.*162_*164del, NM_001350882.1:c.*162_*164del, NM_001350881.1:c.*274_*276del, NM_001350883.1:c.*162_*164del, NM_001350886.1:c.*162_*164del, NM_001350880.1:c.*162_*164del, NR_146935.1:n.930_932del, NM_001350893.1:c.*162_*164del, NM_001350894.1:c.*162_*164del, NM_001350885.1:c.*162_*164del, NM_001350887.1:c.*162_*164del, NM_001350889.1:c.*162_*164del, NR_146934.1:n.791_793del, NW_018654715.1:g.502840_502842del, XM_011516047.3:c.*162_*164del, XM_011516047.2:c.*162_*164del, XM_011516047.1:c.*162_*164del, XM_011516032.3:c.*162_*164del, XM_011516032.2:c.*162_*164del, XM_011516032.1:c.*162_*164del, XM_011516034.3:c.*162_*164del, XM_011516034.2:c.*162_*164del, XM_011516034.1:c.*162_*164del, XM_011516033.3:c.*162_*164del, XM_011516033.2:c.*162_*164del, XM_011516033.1:c.*162_*164del, XM_011516037.3:c.*162_*164del, XM_011516037.2:c.*162_*164del, XM_011516037.1:c.*162_*164del, XM_011516039.3:c.*162_*164del, XM_011516039.2:c.*162_*164del, XM_011516039.1:c.*162_*164del, XM_017011981.3:c.*162_*164del, XM_017011981.2:c.*162_*164del, XM_017011981.1:c.*162_*164del, XM_017011980.3:c.*162_*164del, XM_017011980.2:c.*162_*164del, XM_017011980.1:c.*162_*164del, XM_011516031.2:c.*162_*164del, XM_011516031.1:c.*162_*164del, XM_005249970.2:c.*162_*164del, XM_005249970.1:c.*162_*164del, XM_017011971.2:c.*162_*164del, XM_017011971.1:c.*162_*164del, XM_024446717.2:c.*162_*164del, XM_024446717.1:c.*162_*164del, XM_011516043.2:c.*162_*164del, XM_011516043.1:c.*162_*164del, XM_047420198.1:c.*162_*164del, XM_047420199.1:c.*162_*164del, XM_047420192.1:c.*162_*164del, XM_017011970.1:c.*162_*164del, XM_047420195.1:c.*162_*164del, XM_047420197.1:c.*162_*164del, XM_047420194.1:c.*162_*164del, XM_047420196.1:c.*162_*164del, XM_011516048.1:c.*162_*164del

                      11.

                      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

                        12.

                        rs1475034635 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:144452056 (GRCh38)
                          7:144149149 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:144452055:T:C
                          Gene:
                          TPK1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000007.14:g.144452056T>C, NC_000007.13:g.144149149T>C, NG_032112.2:g.388998A>G, NM_022445.4:c.*1489A>G, NM_022445.3:c.*1489A>G, NR_146936.2:n.2676A>G, NR_146936.1:n.2700A>G, NM_001350884.2:c.*1489A>G, NM_001350884.1:c.*1489A>G, NM_001042482.2:c.*1489A>G, NM_001042482.1:c.*1489A>G, NM_001350879.1:c.*1489A>G, NM_001350895.1:c.*1489A>G, NM_001350882.1:c.*1489A>G, NM_001350881.1:c.*1601A>G, NM_001350883.1:c.*1489A>G, NM_001350886.1:c.*1489A>G, NM_001350880.1:c.*1489A>G, NR_146935.1:n.2257A>G, NM_001350893.1:c.*1489A>G, NM_001350894.1:c.*1489A>G, NM_001350885.1:c.*1489A>G, NM_001350887.1:c.*1489A>G, NM_001350889.1:c.*1489A>G, NR_146934.1:n.2118A>G, NW_018654715.1:g.501513T>C, XM_011516047.3:c.*1489A>G, XM_011516047.2:c.*1489A>G, XM_011516047.1:c.*1489A>G, XM_011516032.3:c.*1489A>G, XM_011516032.2:c.*1489A>G, XM_011516032.1:c.*1489A>G, XM_011516034.3:c.*1489A>G, XM_011516034.2:c.*1489A>G, XM_011516034.1:c.*1489A>G, XM_011516033.3:c.*1489A>G, XM_011516033.2:c.*1489A>G, XM_011516033.1:c.*1489A>G, XM_011516037.3:c.*1489A>G, XM_011516037.2:c.*1489A>G, XM_011516037.1:c.*1489A>G, XM_011516039.3:c.*1489A>G, XM_011516039.2:c.*1489A>G, XM_011516039.1:c.*1489A>G, XM_017011981.3:c.*1489A>G, XM_017011981.2:c.*1489A>G, XM_017011981.1:c.*1489A>G, XM_017011980.3:c.*1489A>G, XM_017011980.2:c.*1489A>G, XM_017011980.1:c.*1489A>G, XM_011516031.2:c.*1489A>G, XM_011516031.1:c.*1489A>G, XM_005249970.2:c.*1489A>G, XM_005249970.1:c.*1489A>G, XM_017011971.2:c.*1489A>G, XM_017011971.1:c.*1489A>G, XM_024446717.2:c.*1489A>G, XM_024446717.1:c.*1489A>G, XM_011516043.2:c.*1489A>G, XM_011516043.1:c.*1489A>G, XM_047420198.1:c.*1489A>G, XM_047420199.1:c.*1489A>G, XM_047420192.1:c.*1489A>G, XM_017011970.1:c.*1489A>G, XM_047420195.1:c.*1489A>G, XM_047420197.1:c.*1489A>G, XM_047420194.1:c.*1489A>G, XM_047420196.1:c.*1489A>G, XM_011516048.1:c.*1489A>G

                          13.

                          rs1472323686 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            7:144452275 (GRCh38)
                            7:144149368 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:144452274:G:T
                            Gene:
                            TPK1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000007.14:g.144452275G>T, NC_000007.13:g.144149368G>T, NG_032112.2:g.388779C>A, NM_022445.4:c.*1270C>A, NM_022445.3:c.*1270C>A, NR_146936.2:n.2457C>A, NR_146936.1:n.2481C>A, NM_001350884.2:c.*1270C>A, NM_001350884.1:c.*1270C>A, NM_001042482.2:c.*1270C>A, NM_001042482.1:c.*1270C>A, NM_001350879.1:c.*1270C>A, NM_001350895.1:c.*1270C>A, NM_001350882.1:c.*1270C>A, NM_001350881.1:c.*1382C>A, NM_001350883.1:c.*1270C>A, NM_001350886.1:c.*1270C>A, NM_001350880.1:c.*1270C>A, NR_146935.1:n.2038C>A, NM_001350893.1:c.*1270C>A, NM_001350894.1:c.*1270C>A, NM_001350885.1:c.*1270C>A, NM_001350887.1:c.*1270C>A, NM_001350889.1:c.*1270C>A, NR_146934.1:n.1899C>A, NW_018654715.1:g.501732G>T, XM_011516047.3:c.*1270C>A, XM_011516047.2:c.*1270C>A, XM_011516047.1:c.*1270C>A, XM_011516032.3:c.*1270C>A, XM_011516032.2:c.*1270C>A, XM_011516032.1:c.*1270C>A, XM_011516034.3:c.*1270C>A, XM_011516034.2:c.*1270C>A, XM_011516034.1:c.*1270C>A, XM_011516033.3:c.*1270C>A, XM_011516033.2:c.*1270C>A, XM_011516033.1:c.*1270C>A, XM_011516037.3:c.*1270C>A, XM_011516037.2:c.*1270C>A, XM_011516037.1:c.*1270C>A, XM_011516039.3:c.*1270C>A, XM_011516039.2:c.*1270C>A, XM_011516039.1:c.*1270C>A, XM_017011981.3:c.*1270C>A, XM_017011981.2:c.*1270C>A, XM_017011981.1:c.*1270C>A, XM_017011980.3:c.*1270C>A, XM_017011980.2:c.*1270C>A, XM_017011980.1:c.*1270C>A, XM_011516031.2:c.*1270C>A, XM_011516031.1:c.*1270C>A, XM_005249970.2:c.*1270C>A, XM_005249970.1:c.*1270C>A, XM_017011971.2:c.*1270C>A, XM_017011971.1:c.*1270C>A, XM_024446717.2:c.*1270C>A, XM_024446717.1:c.*1270C>A, XM_011516043.2:c.*1270C>A, XM_011516043.1:c.*1270C>A, XM_047420198.1:c.*1270C>A, XM_047420199.1:c.*1270C>A, XM_047420192.1:c.*1270C>A, XM_017011970.1:c.*1270C>A, XM_047420195.1:c.*1270C>A, XM_047420197.1:c.*1270C>A, XM_047420194.1:c.*1270C>A, XM_047420196.1:c.*1270C>A, XM_011516048.1:c.*1270C>A

                            14.

                            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

                              15.

                              rs1470674236 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:144453557 (GRCh38)
                                7:144150650 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:144453556:G:A
                                Gene:
                                TPK1 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.144453557G>A, NC_000007.13:g.144150650G>A, NG_032112.2:g.387497C>T, NM_022445.4:c.720C>T, NM_022445.3:c.720C>T, NR_146936.2:n.1175C>T, NR_146936.1:n.1199C>T, NM_001350884.2:c.705C>T, NM_001350884.1:c.705C>T, NM_001042482.2:c.573C>T, NM_001042482.1:c.573C>T, NM_001350879.1:c.720C>T, NM_001350895.1:c.369C>T, NM_001350882.1:c.705C>T, NM_001350881.1:c.*100C>T, NM_001350883.1:c.705C>T, NM_001350886.1:c.402C>T, NM_001350880.1:c.573C>T, NR_146935.1:n.756C>T, NM_001350893.1:c.402C>T, NM_001350894.1:c.402C>T, NM_001350885.1:c.402C>T, NM_001350887.1:c.402C>T, NM_001350889.1:c.402C>T, NR_146934.1:n.617C>T, NW_018654715.1:g.503014G>A, XM_011516047.3:c.402C>T, XM_011516047.2:c.402C>T, XM_011516047.1:c.402C>T, XM_011516032.3:c.798C>T, XM_011516032.2:c.798C>T, XM_011516032.1:c.798C>T, XM_011516034.3:c.798C>T, XM_011516034.2:c.798C>T, XM_011516034.1:c.798C>T, XM_011516033.3:c.798C>T, XM_011516033.2:c.798C>T, XM_011516033.1:c.798C>T, XM_011516037.3:c.783C>T, XM_011516037.2:c.783C>T, XM_011516037.1:c.783C>T, XM_011516039.3:c.720C>T, XM_011516039.2:c.720C>T, XM_011516039.1:c.720C>T, XM_017011981.3:c.480C>T, XM_017011981.2:c.480C>T, XM_017011981.1:c.480C>T, XM_017011980.3:c.480C>T, XM_017011980.2:c.480C>T, XM_017011980.1:c.480C>T, XM_011516031.2:c.798C>T, XM_011516031.1:c.798C>T, XM_005249970.2:c.720C>T, XM_005249970.1:c.720C>T, XM_017011971.2:c.783C>T, XM_017011971.1:c.783C>T, XM_024446717.2:c.402C>T, XM_024446717.1:c.402C>T, XM_011516043.2:c.651C>T, XM_011516043.1:c.651C>T, XM_047420198.1:c.402C>T, XM_047420199.1:c.402C>T, XM_047420192.1:c.720C>T, XM_017011970.1:c.783C>T, XM_047420195.1:c.573C>T, XM_047420197.1:c.402C>T, XM_047420194.1:c.573C>T, XM_047420196.1:c.558C>T, XM_011516048.1:c.402C>T

                                16.

                                rs1470032350 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:144452070 (GRCh38)
                                  7:144149163 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:144452069:G:A
                                  Gene:
                                  TPK1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000007.14:g.144452070G>A, NC_000007.13:g.144149163G>A, NG_032112.2:g.388984C>T, NM_022445.4:c.*1475C>T, NM_022445.3:c.*1475C>T, NR_146936.2:n.2662C>T, NR_146936.1:n.2686C>T, NM_001350884.2:c.*1475C>T, NM_001350884.1:c.*1475C>T, NM_001042482.2:c.*1475C>T, NM_001042482.1:c.*1475C>T, NM_001350879.1:c.*1475C>T, NM_001350895.1:c.*1475C>T, NM_001350882.1:c.*1475C>T, NM_001350881.1:c.*1587C>T, NM_001350883.1:c.*1475C>T, NM_001350886.1:c.*1475C>T, NM_001350880.1:c.*1475C>T, NR_146935.1:n.2243C>T, NM_001350893.1:c.*1475C>T, NM_001350894.1:c.*1475C>T, NM_001350885.1:c.*1475C>T, NM_001350887.1:c.*1475C>T, NM_001350889.1:c.*1475C>T, NR_146934.1:n.2104C>T, NW_018654715.1:g.501527G>A, XM_011516047.3:c.*1475C>T, XM_011516047.2:c.*1475C>T, XM_011516047.1:c.*1475C>T, XM_011516032.3:c.*1475C>T, XM_011516032.2:c.*1475C>T, XM_011516032.1:c.*1475C>T, XM_011516034.3:c.*1475C>T, XM_011516034.2:c.*1475C>T, XM_011516034.1:c.*1475C>T, XM_011516033.3:c.*1475C>T, XM_011516033.2:c.*1475C>T, XM_011516033.1:c.*1475C>T, XM_011516037.3:c.*1475C>T, XM_011516037.2:c.*1475C>T, XM_011516037.1:c.*1475C>T, XM_011516039.3:c.*1475C>T, XM_011516039.2:c.*1475C>T, XM_011516039.1:c.*1475C>T, XM_017011981.3:c.*1475C>T, XM_017011981.2:c.*1475C>T, XM_017011981.1:c.*1475C>T, XM_017011980.3:c.*1475C>T, XM_017011980.2:c.*1475C>T, XM_017011980.1:c.*1475C>T, XM_011516031.2:c.*1475C>T, XM_011516031.1:c.*1475C>T, XM_005249970.2:c.*1475C>T, XM_005249970.1:c.*1475C>T, XM_017011971.2:c.*1475C>T, XM_017011971.1:c.*1475C>T, XM_024446717.2:c.*1475C>T, XM_024446717.1:c.*1475C>T, XM_011516043.2:c.*1475C>T, XM_011516043.1:c.*1475C>T, XM_047420198.1:c.*1475C>T, XM_047420199.1:c.*1475C>T, XM_047420192.1:c.*1475C>T, XM_017011970.1:c.*1475C>T, XM_047420195.1:c.*1475C>T, XM_047420197.1:c.*1475C>T, XM_047420194.1:c.*1475C>T, XM_047420196.1:c.*1475C>T, XM_011516048.1:c.*1475C>T

                                  17.

                                  rs1467865638 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:144452490 (GRCh38)
                                    7:144149583 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:144452489:T:C
                                    Gene:
                                    TPK1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.144452490T>C, NC_000007.13:g.144149583T>C, NG_032112.2:g.388564A>G, NM_022445.4:c.*1055A>G, NM_022445.3:c.*1055A>G, NR_146936.2:n.2242A>G, NR_146936.1:n.2266A>G, NM_001350884.2:c.*1055A>G, NM_001350884.1:c.*1055A>G, NM_001042482.2:c.*1055A>G, NM_001042482.1:c.*1055A>G, NM_001350879.1:c.*1055A>G, NM_001350895.1:c.*1055A>G, NM_001350882.1:c.*1055A>G, NM_001350881.1:c.*1167A>G, NM_001350883.1:c.*1055A>G, NM_001350886.1:c.*1055A>G, NM_001350880.1:c.*1055A>G, NR_146935.1:n.1823A>G, NM_001350893.1:c.*1055A>G, NM_001350894.1:c.*1055A>G, NM_001350885.1:c.*1055A>G, NM_001350887.1:c.*1055A>G, NM_001350889.1:c.*1055A>G, NR_146934.1:n.1684A>G, NW_018654715.1:g.501947T>C, XM_011516047.3:c.*1055A>G, XM_011516047.2:c.*1055A>G, XM_011516047.1:c.*1055A>G, XM_011516032.3:c.*1055A>G, XM_011516032.2:c.*1055A>G, XM_011516032.1:c.*1055A>G, XM_011516034.3:c.*1055A>G, XM_011516034.2:c.*1055A>G, XM_011516034.1:c.*1055A>G, XM_011516033.3:c.*1055A>G, XM_011516033.2:c.*1055A>G, XM_011516033.1:c.*1055A>G, XM_011516037.3:c.*1055A>G, XM_011516037.2:c.*1055A>G, XM_011516037.1:c.*1055A>G, XM_011516039.3:c.*1055A>G, XM_011516039.2:c.*1055A>G, XM_011516039.1:c.*1055A>G, XM_017011981.3:c.*1055A>G, XM_017011981.2:c.*1055A>G, XM_017011981.1:c.*1055A>G, XM_017011980.3:c.*1055A>G, XM_017011980.2:c.*1055A>G, XM_017011980.1:c.*1055A>G, XM_011516031.2:c.*1055A>G, XM_011516031.1:c.*1055A>G, XM_005249970.2:c.*1055A>G, XM_005249970.1:c.*1055A>G, XM_017011971.2:c.*1055A>G, XM_017011971.1:c.*1055A>G, XM_024446717.2:c.*1055A>G, XM_024446717.1:c.*1055A>G, XM_011516043.2:c.*1055A>G, XM_011516043.1:c.*1055A>G, XM_047420198.1:c.*1055A>G, XM_047420199.1:c.*1055A>G, XM_047420192.1:c.*1055A>G, XM_017011970.1:c.*1055A>G, XM_047420195.1:c.*1055A>G, XM_047420197.1:c.*1055A>G, XM_047420194.1:c.*1055A>G, XM_047420196.1:c.*1055A>G, XM_011516048.1:c.*1055A>G

                                    18.

                                    rs1466785411 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      7:144452670 (GRCh38)
                                      7:144149763 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:144452669:A:T
                                      Gene:
                                      TPK1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000224/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000007.14:g.144452670A>T, NC_000007.13:g.144149763A>T, NG_032112.2:g.388384T>A, NM_022445.4:c.*875T>A, NM_022445.3:c.*875T>A, NR_146936.2:n.2062T>A, NR_146936.1:n.2086T>A, NM_001350884.2:c.*875T>A, NM_001350884.1:c.*875T>A, NM_001042482.2:c.*875T>A, NM_001042482.1:c.*875T>A, NM_001350879.1:c.*875T>A, NM_001350895.1:c.*875T>A, NM_001350882.1:c.*875T>A, NM_001350881.1:c.*987T>A, NM_001350883.1:c.*875T>A, NM_001350886.1:c.*875T>A, NM_001350880.1:c.*875T>A, NR_146935.1:n.1643T>A, NM_001350893.1:c.*875T>A, NM_001350894.1:c.*875T>A, NM_001350885.1:c.*875T>A, NM_001350887.1:c.*875T>A, NM_001350889.1:c.*875T>A, NR_146934.1:n.1504T>A, NW_018654715.1:g.502127A>T, XM_011516047.3:c.*875T>A, XM_011516047.2:c.*875T>A, XM_011516047.1:c.*875T>A, XM_011516032.3:c.*875T>A, XM_011516032.2:c.*875T>A, XM_011516032.1:c.*875T>A, XM_011516034.3:c.*875T>A, XM_011516034.2:c.*875T>A, XM_011516034.1:c.*875T>A, XM_011516033.3:c.*875T>A, XM_011516033.2:c.*875T>A, XM_011516033.1:c.*875T>A, XM_011516037.3:c.*875T>A, XM_011516037.2:c.*875T>A, XM_011516037.1:c.*875T>A, XM_011516039.3:c.*875T>A, XM_011516039.2:c.*875T>A, XM_011516039.1:c.*875T>A, XM_017011981.3:c.*875T>A, XM_017011981.2:c.*875T>A, XM_017011981.1:c.*875T>A, XM_017011980.3:c.*875T>A, XM_017011980.2:c.*875T>A, XM_017011980.1:c.*875T>A, XM_011516031.2:c.*875T>A, XM_011516031.1:c.*875T>A, XM_005249970.2:c.*875T>A, XM_005249970.1:c.*875T>A, XM_017011971.2:c.*875T>A, XM_017011971.1:c.*875T>A, XM_024446717.2:c.*875T>A, XM_024446717.1:c.*875T>A, XM_011516043.2:c.*875T>A, XM_011516043.1:c.*875T>A, XM_047420198.1:c.*875T>A, XM_047420199.1:c.*875T>A, XM_047420192.1:c.*875T>A, XM_017011970.1:c.*875T>A, XM_047420195.1:c.*875T>A, XM_047420197.1:c.*875T>A, XM_047420194.1:c.*875T>A, XM_047420196.1:c.*875T>A, XM_011516048.1:c.*875T>A

                                      19.

                                      rs1465514839 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:144452958 (GRCh38)
                                        7:144150051 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:144452957:A:G
                                        Gene:
                                        TPK1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000007.14:g.144452958A>G, NC_000007.13:g.144150051A>G, NG_032112.2:g.388096T>C, NM_022445.4:c.*587T>C, NM_022445.3:c.*587T>C, NR_146936.2:n.1774T>C, NR_146936.1:n.1798T>C, NM_001350884.2:c.*587T>C, NM_001350884.1:c.*587T>C, NM_001042482.2:c.*587T>C, NM_001042482.1:c.*587T>C, NM_001350879.1:c.*587T>C, NM_001350895.1:c.*587T>C, NM_001350882.1:c.*587T>C, NM_001350881.1:c.*699T>C, NM_001350883.1:c.*587T>C, NM_001350886.1:c.*587T>C, NM_001350880.1:c.*587T>C, NR_146935.1:n.1355T>C, NM_001350893.1:c.*587T>C, NM_001350894.1:c.*587T>C, NM_001350885.1:c.*587T>C, NM_001350887.1:c.*587T>C, NM_001350889.1:c.*587T>C, NR_146934.1:n.1216T>C, NW_018654715.1:g.502415A>G, XM_011516047.3:c.*587T>C, XM_011516047.2:c.*587T>C, XM_011516047.1:c.*587T>C, XM_011516032.3:c.*587T>C, XM_011516032.2:c.*587T>C, XM_011516032.1:c.*587T>C, XM_011516034.3:c.*587T>C, XM_011516034.2:c.*587T>C, XM_011516034.1:c.*587T>C, XM_011516033.3:c.*587T>C, XM_011516033.2:c.*587T>C, XM_011516033.1:c.*587T>C, XM_011516037.3:c.*587T>C, XM_011516037.2:c.*587T>C, XM_011516037.1:c.*587T>C, XM_011516039.3:c.*587T>C, XM_011516039.2:c.*587T>C, XM_011516039.1:c.*587T>C, XM_017011981.3:c.*587T>C, XM_017011981.2:c.*587T>C, XM_017011981.1:c.*587T>C, XM_017011980.3:c.*587T>C, XM_017011980.2:c.*587T>C, XM_017011980.1:c.*587T>C, XM_011516031.2:c.*587T>C, XM_011516031.1:c.*587T>C, XM_005249970.2:c.*587T>C, XM_005249970.1:c.*587T>C, XM_017011971.2:c.*587T>C, XM_017011971.1:c.*587T>C, XM_024446717.2:c.*587T>C, XM_024446717.1:c.*587T>C, XM_011516043.2:c.*587T>C, XM_011516043.1:c.*587T>C, XM_047420198.1:c.*587T>C, XM_047420199.1:c.*587T>C, XM_047420192.1:c.*587T>C, XM_017011970.1:c.*587T>C, XM_047420195.1:c.*587T>C, XM_047420197.1:c.*587T>C, XM_047420194.1:c.*587T>C, XM_047420196.1:c.*587T>C, XM_011516048.1:c.*587T>C

                                        20.

                                        rs1464139097 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          7:144835609 (GRCh38)
                                          7:144532702 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:144835608:TT:T
                                          Gene:
                                          TPK1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.144835610del, NC_000007.13:g.144532703del, NG_032112.2:g.5445del, NM_022445.4:c.-7del, NM_022445.3:c.-7del, NM_001042482.2:c.-7del, NM_001042482.1:c.-7del, NM_001350879.1:c.-7del, NM_001350895.1:c.-480del, NM_001350882.1:c.-143del, NM_001350881.1:c.-7del, NM_001350880.1:c.-7del, NR_146935.1:n.247del, NM_001350893.1:c.-255del, NM_001350894.1:c.-252del, XM_011516040.3:c.-7del, XM_011516040.2:c.-7del, XM_011516040.1:c.-7del, XM_011516032.3:c.-7del, XM_011516032.2:c.-7del, XM_011516032.1:c.-7del, XM_011516034.3:c.-7del, XM_011516034.2:c.-7del, XM_011516034.1:c.-7del, XM_011516033.3:c.-7del, XM_011516033.2:c.-7del, XM_011516033.1:c.-7del, XM_011516031.2:c.-7del, XM_011516031.1:c.-7del, XM_005249970.2:c.-7del, XM_005249970.1:c.-7del, XM_011516043.2:c.-7del, XM_011516043.1:c.-7del, XM_017011969.2:c.-7del, XM_017011969.1:c.-7del, XM_017011972.2:c.-7del, XM_017011972.1:c.-7del, XR_001744630.2:n.97del, XR_001744630.1:n.98del, XM_011516046.2:c.-7del, XM_011516046.1:c.-7del, XM_047420198.1:c.-973del, XM_047420199.1:c.-973del, XM_047420192.1:c.-7del, XM_047420195.1:c.-7del, XM_047420194.1:c.-7del

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity