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 Protein

Items: 1 to 20 of 477

1.

rs1490977725 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:9374644 (GRCh38)
    3:9416328 (GRCh37)
    Canonical SPDI:
    NC_000003.12:9374643:C:T
    Gene:
    THUMPD3 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.9374644C>T, NC_000003.11:g.9416328C>T, XM_005265022.5:c.936C>T, XM_005265022.4:c.936C>T, XM_005265022.3:c.936C>T, XM_005265022.2:c.936C>T, XM_005265022.1:c.936C>T, XM_005265021.5:c.936C>T, XM_005265021.4:c.936C>T, XM_005265021.3:c.936C>T, XM_005265021.2:c.936C>T, XM_005265021.1:c.936C>T, XM_006713086.4:c.936C>T, XM_006713086.3:c.936C>T, XM_006713086.2:c.936C>T, XM_006713086.1:c.936C>T, XM_005265023.4:c.936C>T, XM_005265023.3:c.936C>T, XM_005265023.2:c.936C>T, XM_005265023.1:c.936C>T, XM_011533570.3:c.936C>T, XM_011533570.2:c.936C>T, XM_011533570.1:c.936C>T, NM_015453.3:c.936C>T, NM_015453.2:c.936C>T, XM_017006115.3:c.936C>T, XM_017006115.2:c.936C>T, XM_017006115.1:c.936C>T, XM_017006116.3:c.936C>T, XM_017006116.2:c.936C>T, XM_017006116.1:c.936C>T, XM_017006114.2:c.936C>T, XM_017006114.1:c.936C>T, XM_017006113.2:c.936C>T, XM_017006113.1:c.936C>T, NM_001114092.2:c.936C>T, NM_001114092.1:c.936C>T, XM_047447929.1:c.936C>T

    2.

    rs1490961766 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      3:9371524 (GRCh38)
      3:9413208 (GRCh37)
      Canonical SPDI:
      NC_000003.12:9371523:C:G
      Gene:
      THUMPD3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.9371524C>G, NC_000003.11:g.9413208C>G, XM_005265022.5:c.795C>G, XM_005265022.4:c.795C>G, XM_005265022.3:c.795C>G, XM_005265022.2:c.795C>G, XM_005265022.1:c.795C>G, XM_005265021.5:c.795C>G, XM_005265021.4:c.795C>G, XM_005265021.3:c.795C>G, XM_005265021.2:c.795C>G, XM_005265021.1:c.795C>G, XM_006713086.4:c.795C>G, XM_006713086.3:c.795C>G, XM_006713086.2:c.795C>G, XM_006713086.1:c.795C>G, XM_005265023.4:c.795C>G, XM_005265023.3:c.795C>G, XM_005265023.2:c.795C>G, XM_005265023.1:c.795C>G, XM_011533570.3:c.795C>G, XM_011533570.2:c.795C>G, XM_011533570.1:c.795C>G, NM_015453.3:c.795C>G, NM_015453.2:c.795C>G, XM_017006115.3:c.795C>G, XM_017006115.2:c.795C>G, XM_017006115.1:c.795C>G, XM_017006116.3:c.795C>G, XM_017006116.2:c.795C>G, XM_017006116.1:c.795C>G, XM_017006114.2:c.795C>G, XM_017006114.1:c.795C>G, XM_017006113.2:c.795C>G, XM_017006113.1:c.795C>G, NM_001114092.2:c.795C>G, NM_001114092.1:c.795C>G, XM_047447929.1:c.795C>G, XP_005265079.1:p.Asn265Lys, XP_005265078.1:p.Asn265Lys, XP_006713149.1:p.Asn265Lys, XP_005265080.1:p.Asn265Lys, XP_011531872.1:p.Asn265Lys, NP_056268.2:p.Asn265Lys, XP_016861604.1:p.Asn265Lys, XP_016861605.1:p.Asn265Lys, XP_016861603.1:p.Asn265Lys, XP_016861602.1:p.Asn265Lys, NP_001107564.1:p.Asn265Lys, XP_047303885.1:p.Asn265Lys

      3.

      rs1490092921 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        3:9384284 (GRCh38)
        3:9425968 (GRCh37)
        Canonical SPDI:
        NC_000003.12:9384283:T:A
        Gene:
        THUMPD3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000003.12:g.9384284T>A, NC_000003.11:g.9425968T>A, XM_005265022.5:c.1308T>A, XM_005265022.4:c.1308T>A, XM_005265022.3:c.1308T>A, XM_005265022.2:c.1308T>A, XM_005265022.1:c.1308T>A, XM_005265021.5:c.1308T>A, XM_005265021.4:c.1308T>A, XM_005265021.3:c.1308T>A, XM_005265021.2:c.1308T>A, XM_005265021.1:c.1308T>A, XM_006713086.4:c.1308T>A, XM_006713086.3:c.1308T>A, XM_006713086.2:c.1308T>A, XM_006713086.1:c.1308T>A, XM_005265023.4:c.1308T>A, XM_005265023.3:c.1308T>A, XM_005265023.2:c.1308T>A, XM_005265023.1:c.1308T>A, XM_011533570.3:c.1308T>A, XM_011533570.2:c.1308T>A, XM_011533570.1:c.1308T>A, NM_015453.3:c.1308T>A, NM_015453.2:c.1308T>A, XM_017006115.3:c.1192T>A, XM_017006115.2:c.1192T>A, XM_017006115.1:c.1192T>A, XM_017006116.3:c.1192T>A, XM_017006116.2:c.1192T>A, XM_017006116.1:c.1192T>A, XM_017006114.2:c.1192T>A, XM_017006114.1:c.1192T>A, XM_017006113.2:c.1192T>A, XM_017006113.1:c.1192T>A, NM_001114092.2:c.1308T>A, NM_001114092.1:c.1308T>A, XM_047447929.1:c.1192T>A, XP_016861604.1:p.Tyr398Asn, XP_016861605.1:p.Tyr398Asn, XP_016861603.1:p.Tyr398Asn, XP_016861602.1:p.Tyr398Asn, XP_047303885.1:p.Tyr398Asn

        4.

        rs1489931097 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:9384596 (GRCh38)
          3:9426280 (GRCh37)
          Canonical SPDI:
          NC_000003.12:9384595:G:A
          Gene:
          THUMPD3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000003.12:g.9384596G>A, NC_000003.11:g.9426280G>A, XM_005265022.5:c.1432G>A, XM_005265022.4:c.1432G>A, XM_005265022.3:c.1432G>A, XM_005265022.2:c.1432G>A, XM_005265022.1:c.1432G>A, XM_005265021.5:c.1432G>A, XM_005265021.4:c.1432G>A, XM_005265021.3:c.1432G>A, XM_005265021.2:c.1432G>A, XM_005265021.1:c.1432G>A, XM_006713086.4:c.1432G>A, XM_006713086.3:c.1432G>A, XM_006713086.2:c.1432G>A, XM_006713086.1:c.1432G>A, XM_005265023.4:c.1432G>A, XM_005265023.3:c.1432G>A, XM_005265023.2:c.1432G>A, XM_005265023.1:c.1432G>A, XM_011533570.3:c.1432G>A, XM_011533570.2:c.1432G>A, XM_011533570.1:c.1432G>A, NM_015453.3:c.1432G>A, NM_015453.2:c.1432G>A, XM_017006115.3:c.1316G>A, XM_017006115.2:c.1316G>A, XM_017006115.1:c.1316G>A, XM_017006116.3:c.1316G>A, XM_017006116.2:c.1316G>A, XM_017006116.1:c.1316G>A, XM_017006114.2:c.1316G>A, XM_017006114.1:c.1316G>A, XM_017006113.2:c.1316G>A, XM_017006113.1:c.1316G>A, NM_001114092.2:c.1432G>A, NM_001114092.1:c.1432G>A, XM_047447929.1:c.1316G>A, XP_005265079.1:p.Ala478Thr, XP_005265078.1:p.Ala478Thr, XP_006713149.1:p.Ala478Thr, XP_005265080.1:p.Ala478Thr, XP_011531872.1:p.Ala478Thr, NP_056268.2:p.Ala478Thr, XP_016861604.1:p.Cys439Tyr, XP_016861605.1:p.Cys439Tyr, XP_016861603.1:p.Cys439Tyr, XP_016861602.1:p.Cys439Tyr, NP_001107564.1:p.Ala478Thr, XP_047303885.1:p.Cys439Tyr

          5.

          rs1489658255 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            3:9383223 (GRCh38)
            3:9424907 (GRCh37)
            Canonical SPDI:
            NC_000003.12:9383222:A:C
            Gene:
            THUMPD3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.9383223A>C, NC_000003.11:g.9424907A>C, XM_005265022.5:c.1149A>C, XM_005265022.4:c.1149A>C, XM_005265022.3:c.1149A>C, XM_005265022.2:c.1149A>C, XM_005265022.1:c.1149A>C, XM_005265021.5:c.1149A>C, XM_005265021.4:c.1149A>C, XM_005265021.3:c.1149A>C, XM_005265021.2:c.1149A>C, XM_005265021.1:c.1149A>C, XM_006713086.4:c.1149A>C, XM_006713086.3:c.1149A>C, XM_006713086.2:c.1149A>C, XM_006713086.1:c.1149A>C, XM_005265023.4:c.1149A>C, XM_005265023.3:c.1149A>C, XM_005265023.2:c.1149A>C, XM_005265023.1:c.1149A>C, XM_011533570.3:c.1149A>C, XM_011533570.2:c.1149A>C, XM_011533570.1:c.1149A>C, NM_015453.3:c.1149A>C, NM_015453.2:c.1149A>C, XM_017006115.3:c.1033A>C, XM_017006115.2:c.1033A>C, XM_017006115.1:c.1033A>C, XM_017006116.3:c.1033A>C, XM_017006116.2:c.1033A>C, XM_017006116.1:c.1033A>C, XM_017006114.2:c.1033A>C, XM_017006114.1:c.1033A>C, XM_017006113.2:c.1033A>C, XM_017006113.1:c.1033A>C, NM_001114092.2:c.1149A>C, NM_001114092.1:c.1149A>C, XM_047447929.1:c.1033A>C

            6.

            rs1488847365 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:9365258 (GRCh38)
              3:9406942 (GRCh37)
              Canonical SPDI:
              NC_000003.12:9365257:T:C
              Gene:
              THUMPD3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000003.12:g.9365258T>C, NC_000003.11:g.9406942T>C, XM_005265022.5:c.190T>C, XM_005265022.4:c.190T>C, XM_005265022.3:c.190T>C, XM_005265022.2:c.190T>C, XM_005265022.1:c.190T>C, XM_005265021.5:c.190T>C, XM_005265021.4:c.190T>C, XM_005265021.3:c.190T>C, XM_005265021.2:c.190T>C, XM_005265021.1:c.190T>C, XM_006713086.4:c.190T>C, XM_006713086.3:c.190T>C, XM_006713086.2:c.190T>C, XM_006713086.1:c.190T>C, XM_005265023.4:c.190T>C, XM_005265023.3:c.190T>C, XM_005265023.2:c.190T>C, XM_005265023.1:c.190T>C, XM_011533570.3:c.190T>C, XM_011533570.2:c.190T>C, XM_011533570.1:c.190T>C, NM_015453.3:c.190T>C, NM_015453.2:c.190T>C, XM_017006115.3:c.190T>C, XM_017006115.2:c.190T>C, XM_017006115.1:c.190T>C, XM_017006116.3:c.190T>C, XM_017006116.2:c.190T>C, XM_017006116.1:c.190T>C, XM_017006114.2:c.190T>C, XM_017006114.1:c.190T>C, XM_017006113.2:c.190T>C, XM_017006113.1:c.190T>C, NM_001114092.2:c.190T>C, NM_001114092.1:c.190T>C, XM_047447929.1:c.190T>C, XP_005265079.1:p.Cys64Arg, XP_005265078.1:p.Cys64Arg, XP_006713149.1:p.Cys64Arg, XP_005265080.1:p.Cys64Arg, XP_011531872.1:p.Cys64Arg, NP_056268.2:p.Cys64Arg, XP_016861604.1:p.Cys64Arg, XP_016861605.1:p.Cys64Arg, XP_016861603.1:p.Cys64Arg, XP_016861602.1:p.Cys64Arg, NP_001107564.1:p.Cys64Arg, XP_047303885.1:p.Cys64Arg

              7.

              rs1487187073 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:9371170 (GRCh38)
                3:9412854 (GRCh37)
                Canonical SPDI:
                NC_000003.12:9371169:A:G
                Gene:
                THUMPD3 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.9371170A>G, NC_000003.11:g.9412854A>G, XM_005265022.5:c.441A>G, XM_005265022.4:c.441A>G, XM_005265022.3:c.441A>G, XM_005265022.2:c.441A>G, XM_005265022.1:c.441A>G, XM_005265021.5:c.441A>G, XM_005265021.4:c.441A>G, XM_005265021.3:c.441A>G, XM_005265021.2:c.441A>G, XM_005265021.1:c.441A>G, XM_006713086.4:c.441A>G, XM_006713086.3:c.441A>G, XM_006713086.2:c.441A>G, XM_006713086.1:c.441A>G, XM_005265023.4:c.441A>G, XM_005265023.3:c.441A>G, XM_005265023.2:c.441A>G, XM_005265023.1:c.441A>G, XM_011533570.3:c.441A>G, XM_011533570.2:c.441A>G, XM_011533570.1:c.441A>G, NM_015453.3:c.441A>G, NM_015453.2:c.441A>G, XM_017006115.3:c.441A>G, XM_017006115.2:c.441A>G, XM_017006115.1:c.441A>G, XM_017006116.3:c.441A>G, XM_017006116.2:c.441A>G, XM_017006116.1:c.441A>G, XM_017006114.2:c.441A>G, XM_017006114.1:c.441A>G, XM_017006113.2:c.441A>G, XM_017006113.1:c.441A>G, NM_001114092.2:c.441A>G, NM_001114092.1:c.441A>G, XM_047447929.1:c.441A>G

                8.

                rs1484053885 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:9365319 (GRCh38)
                  3:9407003 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:9365318:A:G
                  Gene:
                  THUMPD3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000003.12:g.9365319A>G, NC_000003.11:g.9407003A>G, XM_005265022.5:c.251A>G, XM_005265022.4:c.251A>G, XM_005265022.3:c.251A>G, XM_005265022.2:c.251A>G, XM_005265022.1:c.251A>G, XM_005265021.5:c.251A>G, XM_005265021.4:c.251A>G, XM_005265021.3:c.251A>G, XM_005265021.2:c.251A>G, XM_005265021.1:c.251A>G, XM_006713086.4:c.251A>G, XM_006713086.3:c.251A>G, XM_006713086.2:c.251A>G, XM_006713086.1:c.251A>G, XM_005265023.4:c.251A>G, XM_005265023.3:c.251A>G, XM_005265023.2:c.251A>G, XM_005265023.1:c.251A>G, XM_011533570.3:c.251A>G, XM_011533570.2:c.251A>G, XM_011533570.1:c.251A>G, NM_015453.3:c.251A>G, NM_015453.2:c.251A>G, XM_017006115.3:c.251A>G, XM_017006115.2:c.251A>G, XM_017006115.1:c.251A>G, XM_017006116.3:c.251A>G, XM_017006116.2:c.251A>G, XM_017006116.1:c.251A>G, XM_017006114.2:c.251A>G, XM_017006114.1:c.251A>G, XM_017006113.2:c.251A>G, XM_017006113.1:c.251A>G, NM_001114092.2:c.251A>G, NM_001114092.1:c.251A>G, XM_047447929.1:c.251A>G, XP_005265079.1:p.Gln84Arg, XP_005265078.1:p.Gln84Arg, XP_006713149.1:p.Gln84Arg, XP_005265080.1:p.Gln84Arg, XP_011531872.1:p.Gln84Arg, NP_056268.2:p.Gln84Arg, XP_016861604.1:p.Gln84Arg, XP_016861605.1:p.Gln84Arg, XP_016861603.1:p.Gln84Arg, XP_016861602.1:p.Gln84Arg, NP_001107564.1:p.Gln84Arg, XP_047303885.1:p.Gln84Arg

                  9.

                  rs1483293460 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:9384277 (GRCh38)
                    3:9425961 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:9384276:G:A
                    Gene:
                    THUMPD3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.00025/4 (TOMMO)
                    HGVS:
                    NC_000003.12:g.9384277G>A, NC_000003.11:g.9425961G>A, XM_005265022.5:c.1301G>A, XM_005265022.4:c.1301G>A, XM_005265022.3:c.1301G>A, XM_005265022.2:c.1301G>A, XM_005265022.1:c.1301G>A, XM_005265021.5:c.1301G>A, XM_005265021.4:c.1301G>A, XM_005265021.3:c.1301G>A, XM_005265021.2:c.1301G>A, XM_005265021.1:c.1301G>A, XM_006713086.4:c.1301G>A, XM_006713086.3:c.1301G>A, XM_006713086.2:c.1301G>A, XM_006713086.1:c.1301G>A, XM_005265023.4:c.1301G>A, XM_005265023.3:c.1301G>A, XM_005265023.2:c.1301G>A, XM_005265023.1:c.1301G>A, XM_011533570.3:c.1301G>A, XM_011533570.2:c.1301G>A, XM_011533570.1:c.1301G>A, NM_015453.3:c.1301G>A, NM_015453.2:c.1301G>A, XM_017006115.3:c.1185G>A, XM_017006115.2:c.1185G>A, XM_017006115.1:c.1185G>A, XM_017006116.3:c.1185G>A, XM_017006116.2:c.1185G>A, XM_017006116.1:c.1185G>A, XM_017006114.2:c.1185G>A, XM_017006114.1:c.1185G>A, XM_017006113.2:c.1185G>A, XM_017006113.1:c.1185G>A, NM_001114092.2:c.1301G>A, NM_001114092.1:c.1301G>A, XM_047447929.1:c.1185G>A, XP_005265079.1:p.Cys434Tyr, XP_005265078.1:p.Cys434Tyr, XP_006713149.1:p.Cys434Tyr, XP_005265080.1:p.Cys434Tyr, XP_011531872.1:p.Cys434Tyr, NP_056268.2:p.Cys434Tyr, NP_001107564.1:p.Cys434Tyr

                    10.

                    rs1481199479 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:9371217 (GRCh38)
                      3:9412901 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:9371216:A:C
                      Gene:
                      THUMPD3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000028/1 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000003.12:g.9371217A>C, NC_000003.11:g.9412901A>C, XM_005265022.5:c.488A>C, XM_005265022.4:c.488A>C, XM_005265022.3:c.488A>C, XM_005265022.2:c.488A>C, XM_005265022.1:c.488A>C, XM_005265021.5:c.488A>C, XM_005265021.4:c.488A>C, XM_005265021.3:c.488A>C, XM_005265021.2:c.488A>C, XM_005265021.1:c.488A>C, XM_006713086.4:c.488A>C, XM_006713086.3:c.488A>C, XM_006713086.2:c.488A>C, XM_006713086.1:c.488A>C, XM_005265023.4:c.488A>C, XM_005265023.3:c.488A>C, XM_005265023.2:c.488A>C, XM_005265023.1:c.488A>C, XM_011533570.3:c.488A>C, XM_011533570.2:c.488A>C, XM_011533570.1:c.488A>C, NM_015453.3:c.488A>C, NM_015453.2:c.488A>C, XM_017006115.3:c.488A>C, XM_017006115.2:c.488A>C, XM_017006115.1:c.488A>C, XM_017006116.3:c.488A>C, XM_017006116.2:c.488A>C, XM_017006116.1:c.488A>C, XM_017006114.2:c.488A>C, XM_017006114.1:c.488A>C, XM_017006113.2:c.488A>C, XM_017006113.1:c.488A>C, NM_001114092.2:c.488A>C, NM_001114092.1:c.488A>C, XM_047447929.1:c.488A>C, XP_005265079.1:p.Glu163Ala, XP_005265078.1:p.Glu163Ala, XP_006713149.1:p.Glu163Ala, XP_005265080.1:p.Glu163Ala, XP_011531872.1:p.Glu163Ala, NP_056268.2:p.Glu163Ala, XP_016861604.1:p.Glu163Ala, XP_016861605.1:p.Glu163Ala, XP_016861603.1:p.Glu163Ala, XP_016861602.1:p.Glu163Ala, NP_001107564.1:p.Glu163Ala, XP_047303885.1:p.Glu163Ala

                      11.

                      rs1478634566 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:9384573 (GRCh38)
                        3:9426257 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:9384572:T:C
                        Gene:
                        THUMPD3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,synonymous_variant
                        HGVS:
                        NC_000003.12:g.9384573T>C, NC_000003.11:g.9426257T>C, XM_005265022.5:c.1409T>C, XM_005265022.4:c.1409T>C, XM_005265022.3:c.1409T>C, XM_005265022.2:c.1409T>C, XM_005265022.1:c.1409T>C, XM_005265021.5:c.1409T>C, XM_005265021.4:c.1409T>C, XM_005265021.3:c.1409T>C, XM_005265021.2:c.1409T>C, XM_005265021.1:c.1409T>C, XM_006713086.4:c.1409T>C, XM_006713086.3:c.1409T>C, XM_006713086.2:c.1409T>C, XM_006713086.1:c.1409T>C, XM_005265023.4:c.1409T>C, XM_005265023.3:c.1409T>C, XM_005265023.2:c.1409T>C, XM_005265023.1:c.1409T>C, XM_011533570.3:c.1409T>C, XM_011533570.2:c.1409T>C, XM_011533570.1:c.1409T>C, NM_015453.3:c.1409T>C, NM_015453.2:c.1409T>C, XM_017006115.3:c.1293T>C, XM_017006115.2:c.1293T>C, XM_017006115.1:c.1293T>C, XM_017006116.3:c.1293T>C, XM_017006116.2:c.1293T>C, XM_017006116.1:c.1293T>C, XM_017006114.2:c.1293T>C, XM_017006114.1:c.1293T>C, XM_017006113.2:c.1293T>C, XM_017006113.1:c.1293T>C, NM_001114092.2:c.1409T>C, NM_001114092.1:c.1409T>C, XM_047447929.1:c.1293T>C, XP_005265079.1:p.Val470Ala, XP_005265078.1:p.Val470Ala, XP_006713149.1:p.Val470Ala, XP_005265080.1:p.Val470Ala, XP_011531872.1:p.Val470Ala, NP_056268.2:p.Val470Ala, NP_001107564.1:p.Val470Ala

                        12.

                        rs1476276257 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:9371254 (GRCh38)
                          3:9412938 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:9371253:C:T
                          Gene:
                          THUMPD3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000003.12:g.9371254C>T, NC_000003.11:g.9412938C>T, XM_005265022.5:c.525C>T, XM_005265022.4:c.525C>T, XM_005265022.3:c.525C>T, XM_005265022.2:c.525C>T, XM_005265022.1:c.525C>T, XM_005265021.5:c.525C>T, XM_005265021.4:c.525C>T, XM_005265021.3:c.525C>T, XM_005265021.2:c.525C>T, XM_005265021.1:c.525C>T, XM_006713086.4:c.525C>T, XM_006713086.3:c.525C>T, XM_006713086.2:c.525C>T, XM_006713086.1:c.525C>T, XM_005265023.4:c.525C>T, XM_005265023.3:c.525C>T, XM_005265023.2:c.525C>T, XM_005265023.1:c.525C>T, XM_011533570.3:c.525C>T, XM_011533570.2:c.525C>T, XM_011533570.1:c.525C>T, NM_015453.3:c.525C>T, NM_015453.2:c.525C>T, XM_017006115.3:c.525C>T, XM_017006115.2:c.525C>T, XM_017006115.1:c.525C>T, XM_017006116.3:c.525C>T, XM_017006116.2:c.525C>T, XM_017006116.1:c.525C>T, XM_017006114.2:c.525C>T, XM_017006114.1:c.525C>T, XM_017006113.2:c.525C>T, XM_017006113.1:c.525C>T, NM_001114092.2:c.525C>T, NM_001114092.1:c.525C>T, XM_047447929.1:c.525C>T

                          13.

                          rs1472452003 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            3:9384546 (GRCh38)
                            3:9426230 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:9384545:T:A
                            Gene:
                            THUMPD3 (Varview)
                            Functional Consequence:
                            missense_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.9384546T>A, NC_000003.11:g.9426230T>A, XM_005265022.5:c.1382T>A, XM_005265022.4:c.1382T>A, XM_005265022.3:c.1382T>A, XM_005265022.2:c.1382T>A, XM_005265022.1:c.1382T>A, XM_005265021.5:c.1382T>A, XM_005265021.4:c.1382T>A, XM_005265021.3:c.1382T>A, XM_005265021.2:c.1382T>A, XM_005265021.1:c.1382T>A, XM_006713086.4:c.1382T>A, XM_006713086.3:c.1382T>A, XM_006713086.2:c.1382T>A, XM_006713086.1:c.1382T>A, XM_005265023.4:c.1382T>A, XM_005265023.3:c.1382T>A, XM_005265023.2:c.1382T>A, XM_005265023.1:c.1382T>A, XM_011533570.3:c.1382T>A, XM_011533570.2:c.1382T>A, XM_011533570.1:c.1382T>A, NM_015453.3:c.1382T>A, NM_015453.2:c.1382T>A, XM_017006115.3:c.1266T>A, XM_017006115.2:c.1266T>A, XM_017006115.1:c.1266T>A, XM_017006116.3:c.1266T>A, XM_017006116.2:c.1266T>A, XM_017006116.1:c.1266T>A, XM_017006114.2:c.1266T>A, XM_017006114.1:c.1266T>A, XM_017006113.2:c.1266T>A, XM_017006113.1:c.1266T>A, NM_001114092.2:c.1382T>A, NM_001114092.1:c.1382T>A, XM_047447929.1:c.1266T>A, XP_005265079.1:p.Val461Glu, XP_005265078.1:p.Val461Glu, XP_006713149.1:p.Val461Glu, XP_005265080.1:p.Val461Glu, XP_011531872.1:p.Val461Glu, NP_056268.2:p.Val461Glu, NP_001107564.1:p.Val461Glu

                            14.

                            rs1470483337 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              3:9383298 (GRCh38)
                              3:9424982 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:9383297:A:
                              Gene:
                              THUMPD3 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.9383298del, NC_000003.11:g.9424982del, XM_005265022.5:c.1224del, XM_005265022.4:c.1224del, XM_005265022.3:c.1224del, XM_005265022.2:c.1224del, XM_005265022.1:c.1224del, XM_005265021.5:c.1224del, XM_005265021.4:c.1224del, XM_005265021.3:c.1224del, XM_005265021.2:c.1224del, XM_005265021.1:c.1224del, XM_006713086.4:c.1224del, XM_006713086.3:c.1224del, XM_006713086.2:c.1224del, XM_006713086.1:c.1224del, XM_005265023.4:c.1224del, XM_005265023.3:c.1224del, XM_005265023.2:c.1224del, XM_005265023.1:c.1224del, XM_011533570.3:c.1224del, XM_011533570.2:c.1224del, XM_011533570.1:c.1224del, NM_015453.3:c.1224del, NM_015453.2:c.1224del, XM_017006115.3:c.1108del, XM_017006115.2:c.1108del, XM_017006115.1:c.1108del, XM_017006116.3:c.1108del, XM_017006116.2:c.1108del, XM_017006116.1:c.1108del, XM_017006114.2:c.1108del, XM_017006114.1:c.1108del, XM_017006113.2:c.1108del, XM_017006113.1:c.1108del, NM_001114092.2:c.1224del, NM_001114092.1:c.1224del, XM_047447929.1:c.1108del, XP_005265079.1:p.Phe409fs, XP_005265078.1:p.Phe409fs, XP_006713149.1:p.Phe409fs, XP_005265080.1:p.Phe409fs, XP_011531872.1:p.Phe409fs, NP_056268.2:p.Phe409fs, XP_016861604.1:p.Ile370fs, XP_016861605.1:p.Ile370fs, XP_016861603.1:p.Ile370fs, XP_016861602.1:p.Ile370fs, NP_001107564.1:p.Phe409fs, XP_047303885.1:p.Ile370fs

                              15.

                              rs1462610501 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                3:9371451 (GRCh38)
                                3:9413135 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:9371450:C:A,NC_000003.12:9371450:C:T
                                Gene:
                                THUMPD3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.9371451C>A, NC_000003.12:g.9371451C>T, NC_000003.11:g.9413135C>A, NC_000003.11:g.9413135C>T, XM_005265022.5:c.722C>A, XM_005265022.5:c.722C>T, XM_005265022.4:c.722C>A, XM_005265022.4:c.722C>T, XM_005265022.3:c.722C>A, XM_005265022.3:c.722C>T, XM_005265022.2:c.722C>A, XM_005265022.2:c.722C>T, XM_005265022.1:c.722C>A, XM_005265022.1:c.722C>T, XM_005265021.5:c.722C>A, XM_005265021.5:c.722C>T, XM_005265021.4:c.722C>A, XM_005265021.4:c.722C>T, XM_005265021.3:c.722C>A, XM_005265021.3:c.722C>T, XM_005265021.2:c.722C>A, XM_005265021.2:c.722C>T, XM_005265021.1:c.722C>A, XM_005265021.1:c.722C>T, XM_006713086.4:c.722C>A, XM_006713086.4:c.722C>T, XM_006713086.3:c.722C>A, XM_006713086.3:c.722C>T, XM_006713086.2:c.722C>A, XM_006713086.2:c.722C>T, XM_006713086.1:c.722C>A, XM_006713086.1:c.722C>T, XM_005265023.4:c.722C>A, XM_005265023.4:c.722C>T, XM_005265023.3:c.722C>A, XM_005265023.3:c.722C>T, XM_005265023.2:c.722C>A, XM_005265023.2:c.722C>T, XM_005265023.1:c.722C>A, XM_005265023.1:c.722C>T, XM_011533570.3:c.722C>A, XM_011533570.3:c.722C>T, XM_011533570.2:c.722C>A, XM_011533570.2:c.722C>T, XM_011533570.1:c.722C>A, XM_011533570.1:c.722C>T, NM_015453.3:c.722C>A, NM_015453.3:c.722C>T, NM_015453.2:c.722C>A, NM_015453.2:c.722C>T, XM_017006115.3:c.722C>A, XM_017006115.3:c.722C>T, XM_017006115.2:c.722C>A, XM_017006115.2:c.722C>T, XM_017006115.1:c.722C>A, XM_017006115.1:c.722C>T, XM_017006116.3:c.722C>A, XM_017006116.3:c.722C>T, XM_017006116.2:c.722C>A, XM_017006116.2:c.722C>T, XM_017006116.1:c.722C>A, XM_017006116.1:c.722C>T, XM_017006114.2:c.722C>A, XM_017006114.2:c.722C>T, XM_017006114.1:c.722C>A, XM_017006114.1:c.722C>T, XM_017006113.2:c.722C>A, XM_017006113.2:c.722C>T, XM_017006113.1:c.722C>A, XM_017006113.1:c.722C>T, NM_001114092.2:c.722C>A, NM_001114092.2:c.722C>T, NM_001114092.1:c.722C>A, NM_001114092.1:c.722C>T, XM_047447929.1:c.722C>A, XM_047447929.1:c.722C>T, XP_005265079.1:p.Thr241Asn, XP_005265079.1:p.Thr241Ile, XP_005265078.1:p.Thr241Asn, XP_005265078.1:p.Thr241Ile, XP_006713149.1:p.Thr241Asn, XP_006713149.1:p.Thr241Ile, XP_005265080.1:p.Thr241Asn, XP_005265080.1:p.Thr241Ile, XP_011531872.1:p.Thr241Asn, XP_011531872.1:p.Thr241Ile, NP_056268.2:p.Thr241Asn, NP_056268.2:p.Thr241Ile, XP_016861604.1:p.Thr241Asn, XP_016861604.1:p.Thr241Ile, XP_016861605.1:p.Thr241Asn, XP_016861605.1:p.Thr241Ile, XP_016861603.1:p.Thr241Asn, XP_016861603.1:p.Thr241Ile, XP_016861602.1:p.Thr241Asn, XP_016861602.1:p.Thr241Ile, NP_001107564.1:p.Thr241Asn, NP_001107564.1:p.Thr241Ile, XP_047303885.1:p.Thr241Asn, XP_047303885.1:p.Thr241Ile

                                16.

                                rs1460984199 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:9374541 (GRCh38)
                                  3:9416225 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:9374540:A:C
                                  Gene:
                                  THUMPD3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.9374541A>C, NC_000003.11:g.9416225A>C, XM_005265022.5:c.833A>C, XM_005265022.4:c.833A>C, XM_005265022.3:c.833A>C, XM_005265022.2:c.833A>C, XM_005265022.1:c.833A>C, XM_005265021.5:c.833A>C, XM_005265021.4:c.833A>C, XM_005265021.3:c.833A>C, XM_005265021.2:c.833A>C, XM_005265021.1:c.833A>C, XM_006713086.4:c.833A>C, XM_006713086.3:c.833A>C, XM_006713086.2:c.833A>C, XM_006713086.1:c.833A>C, XM_005265023.4:c.833A>C, XM_005265023.3:c.833A>C, XM_005265023.2:c.833A>C, XM_005265023.1:c.833A>C, XM_011533570.3:c.833A>C, XM_011533570.2:c.833A>C, XM_011533570.1:c.833A>C, NM_015453.3:c.833A>C, NM_015453.2:c.833A>C, XM_017006115.3:c.833A>C, XM_017006115.2:c.833A>C, XM_017006115.1:c.833A>C, XM_017006116.3:c.833A>C, XM_017006116.2:c.833A>C, XM_017006116.1:c.833A>C, XM_017006114.2:c.833A>C, XM_017006114.1:c.833A>C, XM_017006113.2:c.833A>C, XM_017006113.1:c.833A>C, NM_001114092.2:c.833A>C, NM_001114092.1:c.833A>C, XM_047447929.1:c.833A>C, XP_005265079.1:p.Glu278Ala, XP_005265078.1:p.Glu278Ala, XP_006713149.1:p.Glu278Ala, XP_005265080.1:p.Glu278Ala, XP_011531872.1:p.Glu278Ala, NP_056268.2:p.Glu278Ala, XP_016861604.1:p.Glu278Ala, XP_016861605.1:p.Glu278Ala, XP_016861603.1:p.Glu278Ala, XP_016861602.1:p.Glu278Ala, NP_001107564.1:p.Glu278Ala, XP_047303885.1:p.Glu278Ala

                                  17.

                                  rs1456463886 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    3:9374602 (GRCh38)
                                    3:9416286 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:9374601:T:G
                                    Gene:
                                    THUMPD3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.9374602T>G, NC_000003.11:g.9416286T>G, XM_005265022.5:c.894T>G, XM_005265022.4:c.894T>G, XM_005265022.3:c.894T>G, XM_005265022.2:c.894T>G, XM_005265022.1:c.894T>G, XM_005265021.5:c.894T>G, XM_005265021.4:c.894T>G, XM_005265021.3:c.894T>G, XM_005265021.2:c.894T>G, XM_005265021.1:c.894T>G, XM_006713086.4:c.894T>G, XM_006713086.3:c.894T>G, XM_006713086.2:c.894T>G, XM_006713086.1:c.894T>G, XM_005265023.4:c.894T>G, XM_005265023.3:c.894T>G, XM_005265023.2:c.894T>G, XM_005265023.1:c.894T>G, XM_011533570.3:c.894T>G, XM_011533570.2:c.894T>G, XM_011533570.1:c.894T>G, NM_015453.3:c.894T>G, NM_015453.2:c.894T>G, XM_017006115.3:c.894T>G, XM_017006115.2:c.894T>G, XM_017006115.1:c.894T>G, XM_017006116.3:c.894T>G, XM_017006116.2:c.894T>G, XM_017006116.1:c.894T>G, XM_017006114.2:c.894T>G, XM_017006114.1:c.894T>G, XM_017006113.2:c.894T>G, XM_017006113.1:c.894T>G, NM_001114092.2:c.894T>G, NM_001114092.1:c.894T>G, XM_047447929.1:c.894T>G, XP_005265079.1:p.Phe298Leu, XP_005265078.1:p.Phe298Leu, XP_006713149.1:p.Phe298Leu, XP_005265080.1:p.Phe298Leu, XP_011531872.1:p.Phe298Leu, NP_056268.2:p.Phe298Leu, XP_016861604.1:p.Phe298Leu, XP_016861605.1:p.Phe298Leu, XP_016861603.1:p.Phe298Leu, XP_016861602.1:p.Phe298Leu, NP_001107564.1:p.Phe298Leu, XP_047303885.1:p.Phe298Leu

                                    18.

                                    rs1456194716 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      3:9384697 (GRCh38)
                                      3:9426381 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:9384696:A:C,NC_000003.12:9384696:A:G
                                      Gene:
                                      THUMPD3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.9384697A>C, NC_000003.12:g.9384697A>G, NC_000003.11:g.9426381A>C, NC_000003.11:g.9426381A>G, XM_005265022.5:c.*9A>C, XM_005265022.5:c.*9A>G, XM_005265022.4:c.*9A>C, XM_005265022.4:c.*9A>G, XM_005265022.3:c.*9A>C, XM_005265022.3:c.*9A>G, XM_005265022.2:c.*9A>C, XM_005265022.2:c.*9A>G, XM_005265022.1:c.*9A>C, XM_005265022.1:c.*9A>G, XM_005265021.5:c.*9A>C, XM_005265021.5:c.*9A>G, XM_005265021.4:c.*9A>C, XM_005265021.4:c.*9A>G, XM_005265021.3:c.*9A>C, XM_005265021.3:c.*9A>G, XM_005265021.2:c.*9A>C, XM_005265021.2:c.*9A>G, XM_005265021.1:c.*9A>C, XM_005265021.1:c.*9A>G, XM_006713086.4:c.*9A>C, XM_006713086.4:c.*9A>G, XM_006713086.3:c.*9A>C, XM_006713086.3:c.*9A>G, XM_006713086.2:c.*9A>C, XM_006713086.2:c.*9A>G, XM_006713086.1:c.*9A>C, XM_006713086.1:c.*9A>G, XM_005265023.4:c.*9A>C, XM_005265023.4:c.*9A>G, XM_005265023.3:c.*9A>C, XM_005265023.3:c.*9A>G, XM_005265023.2:c.*9A>C, XM_005265023.2:c.*9A>G, XM_005265023.1:c.*9A>C, XM_005265023.1:c.*9A>G, XM_011533570.3:c.*9A>C, XM_011533570.3:c.*9A>G, XM_011533570.2:c.*9A>C, XM_011533570.2:c.*9A>G, XM_011533570.1:c.*9A>C, XM_011533570.1:c.*9A>G, NM_015453.3:c.*9A>C, NM_015453.3:c.*9A>G, NM_015453.2:c.*9A>C, NM_015453.2:c.*9A>G, XM_017006115.3:c.1417A>C, XM_017006115.3:c.1417A>G, XM_017006115.2:c.1417A>C, XM_017006115.2:c.1417A>G, XM_017006115.1:c.1417A>C, XM_017006115.1:c.1417A>G, XM_017006116.3:c.1417A>C, XM_017006116.3:c.1417A>G, XM_017006116.2:c.1417A>C, XM_017006116.2:c.1417A>G, XM_017006116.1:c.1417A>C, XM_017006116.1:c.1417A>G, XM_017006114.2:c.1417A>C, XM_017006114.2:c.1417A>G, XM_017006114.1:c.1417A>C, XM_017006114.1:c.1417A>G, XM_017006113.2:c.1417A>C, XM_017006113.2:c.1417A>G, XM_017006113.1:c.1417A>C, XM_017006113.1:c.1417A>G, NM_001114092.2:c.*9A>C, NM_001114092.2:c.*9A>G, NM_001114092.1:c.*9A>C, NM_001114092.1:c.*9A>G, XM_047447929.1:c.1417A>C, XM_047447929.1:c.1417A>G, XP_016861604.1:p.Asn473His, XP_016861604.1:p.Asn473Asp, XP_016861605.1:p.Asn473His, XP_016861605.1:p.Asn473Asp, XP_016861603.1:p.Asn473His, XP_016861603.1:p.Asn473Asp, XP_016861602.1:p.Asn473His, XP_016861602.1:p.Asn473Asp, XP_047303885.1:p.Asn473His, XP_047303885.1:p.Asn473Asp

                                      19.

                                      rs1454702768 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        3:9371314 (GRCh38)
                                        3:9412998 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:9371313:GG:G
                                        Gene:
                                        THUMPD3 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.9371315del, NC_000003.11:g.9412999del, XM_005265022.5:c.586del, XM_005265022.4:c.586del, XM_005265022.3:c.586del, XM_005265022.2:c.586del, XM_005265022.1:c.586del, XM_005265021.5:c.586del, XM_005265021.4:c.586del, XM_005265021.3:c.586del, XM_005265021.2:c.586del, XM_005265021.1:c.586del, XM_006713086.4:c.586del, XM_006713086.3:c.586del, XM_006713086.2:c.586del, XM_006713086.1:c.586del, XM_005265023.4:c.586del, XM_005265023.3:c.586del, XM_005265023.2:c.586del, XM_005265023.1:c.586del, XM_011533570.3:c.586del, XM_011533570.2:c.586del, XM_011533570.1:c.586del, NM_015453.3:c.586del, NM_015453.2:c.586del, XM_017006115.3:c.586del, XM_017006115.2:c.586del, XM_017006115.1:c.586del, XM_017006116.3:c.586del, XM_017006116.2:c.586del, XM_017006116.1:c.586del, XM_017006114.2:c.586del, XM_017006114.1:c.586del, XM_017006113.2:c.586del, XM_017006113.1:c.586del, NM_001114092.2:c.586del, NM_001114092.1:c.586del, XM_047447929.1:c.586del, XP_005265079.1:p.Asp196fs, XP_005265078.1:p.Asp196fs, XP_006713149.1:p.Asp196fs, XP_005265080.1:p.Asp196fs, XP_011531872.1:p.Asp196fs, NP_056268.2:p.Asp196fs, XP_016861604.1:p.Asp196fs, XP_016861605.1:p.Asp196fs, XP_016861603.1:p.Asp196fs, XP_016861602.1:p.Asp196fs, NP_001107564.1:p.Asp196fs, XP_047303885.1:p.Asp196fs

                                        20.

                                        rs1454170813 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          3:9365315 (GRCh38)
                                          3:9406999 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:9365314:G:T
                                          Gene:
                                          THUMPD3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.9365315G>T, NC_000003.11:g.9406999G>T, XM_005265022.5:c.247G>T, XM_005265022.4:c.247G>T, XM_005265022.3:c.247G>T, XM_005265022.2:c.247G>T, XM_005265022.1:c.247G>T, XM_005265021.5:c.247G>T, XM_005265021.4:c.247G>T, XM_005265021.3:c.247G>T, XM_005265021.2:c.247G>T, XM_005265021.1:c.247G>T, XM_006713086.4:c.247G>T, XM_006713086.3:c.247G>T, XM_006713086.2:c.247G>T, XM_006713086.1:c.247G>T, XM_005265023.4:c.247G>T, XM_005265023.3:c.247G>T, XM_005265023.2:c.247G>T, XM_005265023.1:c.247G>T, XM_011533570.3:c.247G>T, XM_011533570.2:c.247G>T, XM_011533570.1:c.247G>T, NM_015453.3:c.247G>T, NM_015453.2:c.247G>T, XM_017006115.3:c.247G>T, XM_017006115.2:c.247G>T, XM_017006115.1:c.247G>T, XM_017006116.3:c.247G>T, XM_017006116.2:c.247G>T, XM_017006116.1:c.247G>T, XM_017006114.2:c.247G>T, XM_017006114.1:c.247G>T, XM_017006113.2:c.247G>T, XM_017006113.1:c.247G>T, NM_001114092.2:c.247G>T, NM_001114092.1:c.247G>T, XM_047447929.1:c.247G>T, XP_005265079.1:p.Ala83Ser, XP_005265078.1:p.Ala83Ser, XP_006713149.1:p.Ala83Ser, XP_005265080.1:p.Ala83Ser, XP_011531872.1:p.Ala83Ser, NP_056268.2:p.Ala83Ser, XP_016861604.1:p.Ala83Ser, XP_016861605.1:p.Ala83Ser, XP_016861603.1:p.Ala83Ser, XP_016861602.1:p.Ala83Ser, NP_001107564.1:p.Ala83Ser, XP_047303885.1:p.Ala83Ser

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...