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Items: 1 to 20 of 740

1.

rs1490897993 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    15:71747036 (GRCh38)
    15:72039375 (GRCh37)
    Canonical SPDI:
    NC_000015.10:71747035:G:C
    Gene:
    THSD4 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000015.10:g.71747036G>C, NC_000015.9:g.72039375G>C, XM_011522043.4:c.1269G>C, XM_011522043.3:c.1269G>C, XM_011522043.2:c.1269G>C, XM_011522043.1:c.1269G>C, NM_024817.3:c.2235G>C, NM_024817.2:c.2235G>C, XM_011522044.3:c.1227G>C, XM_011522044.2:c.1227G>C, XM_011522044.1:c.1227G>C, XM_017022582.3:c.1353G>C, XM_017022582.2:c.1353G>C, XM_017022582.1:c.1353G>C, XM_017022586.2:c.1182G>C, XM_017022586.1:c.1182G>C, XM_017022584.2:c.1209G>C, XM_017022584.1:c.1209G>C, NM_001286429.2:c.1155G>C, NM_001286429.1:c.1155G>C, XM_017022585.2:c.1203G>C, XM_017022585.1:c.1203G>C, NM_001394532.1:c.2235G>C, XM_047433080.1:c.2235G>C, XP_011520345.1:p.Trp423Cys, NP_079093.2:p.Trp745Cys, XP_011520346.1:p.Trp409Cys, XP_016878071.1:p.Trp451Cys, XP_016878075.1:p.Trp394Cys, XP_016878073.1:p.Trp403Cys, NP_001273358.1:p.Trp385Cys, XP_016878074.1:p.Trp401Cys, NP_001381461.1:p.Trp745Cys, XP_047289036.1:p.Trp745Cys

    2.

    rs1490141685 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      15:71777242 (GRCh38)
      15:72069581 (GRCh37)
      Canonical SPDI:
      NC_000015.10:71777241:C:G
      Gene:
      THSD4 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000111/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.71777242C>G, NC_000015.9:g.72069581C>G, XM_011522043.4:c.1959C>G, XM_011522043.3:c.1959C>G, XM_011522043.2:c.1959C>G, XM_011522043.1:c.1959C>G, NM_024817.3:c.2925C>G, NM_024817.2:c.2925C>G, XM_011522044.3:c.1917C>G, XM_011522044.2:c.1917C>G, XM_011522044.1:c.1917C>G, XM_017022582.3:c.2043C>G, XM_017022582.2:c.2043C>G, XM_017022582.1:c.2043C>G, XM_017022586.2:c.1872C>G, XM_017022586.1:c.1872C>G, XM_017022584.2:c.1899C>G, XM_017022584.1:c.1899C>G, NM_001286429.2:c.1845C>G, NM_001286429.1:c.1845C>G, XM_017022585.2:c.1893C>G, XM_017022585.1:c.1893C>G, NM_001394532.1:c.2925C>G, XM_047433080.1:c.2925C>G, XP_011520345.1:p.Cys653Trp, NP_079093.2:p.Cys975Trp, XP_011520346.1:p.Cys639Trp, XP_016878071.1:p.Cys681Trp, XP_016878075.1:p.Cys624Trp, XP_016878073.1:p.Cys633Trp, NP_001273358.1:p.Cys615Trp, XP_016878074.1:p.Cys631Trp, NP_001381461.1:p.Cys975Trp, XP_047289036.1:p.Cys975Trp

      3.

      rs1489544601 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        15:71757995 (GRCh38)
        15:72050334 (GRCh37)
        Canonical SPDI:
        NC_000015.10:71757994:A:G
        Gene:
        THSD4 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000015.10:g.71757995A>G, NC_000015.9:g.72050334A>G, XM_011522043.4:c.1543A>G, XM_011522043.3:c.1543A>G, XM_011522043.2:c.1543A>G, XM_011522043.1:c.1543A>G, NM_024817.3:c.2509A>G, NM_024817.2:c.2509A>G, XM_011522044.3:c.1501A>G, XM_011522044.2:c.1501A>G, XM_011522044.1:c.1501A>G, XM_017022582.3:c.1627A>G, XM_017022582.2:c.1627A>G, XM_017022582.1:c.1627A>G, XM_017022586.2:c.1456A>G, XM_017022586.1:c.1456A>G, XM_017022584.2:c.1483A>G, XM_017022584.1:c.1483A>G, NM_001286429.2:c.1429A>G, NM_001286429.1:c.1429A>G, XM_017022585.2:c.1477A>G, XM_017022585.1:c.1477A>G, NM_001394532.1:c.2509A>G, XM_047433080.1:c.2509A>G, XP_011520345.1:p.Asn515Asp, NP_079093.2:p.Asn837Asp, XP_011520346.1:p.Asn501Asp, XP_016878071.1:p.Asn543Asp, XP_016878075.1:p.Asn486Asp, XP_016878073.1:p.Asn495Asp, NP_001273358.1:p.Asn477Asp, XP_016878074.1:p.Asn493Asp, NP_001381461.1:p.Asn837Asp, XP_047289036.1:p.Asn837Asp

        4.

        rs1488146375 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:71748511 (GRCh38)
          15:72040850 (GRCh37)
          Canonical SPDI:
          NC_000015.10:71748510:A:G
          Gene:
          THSD4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000084/1 (ALFA)
          G=0.000014/2 (GnomAD)
          HGVS:
          NC_000015.10:g.71748511A>G, NC_000015.9:g.72040850A>G, XM_011522043.4:c.1366A>G, XM_011522043.3:c.1366A>G, XM_011522043.2:c.1366A>G, XM_011522043.1:c.1366A>G, NM_024817.3:c.2332A>G, NM_024817.2:c.2332A>G, XM_011522044.3:c.1324A>G, XM_011522044.2:c.1324A>G, XM_011522044.1:c.1324A>G, XM_017022582.3:c.1450A>G, XM_017022582.2:c.1450A>G, XM_017022582.1:c.1450A>G, XM_017022586.2:c.1279A>G, XM_017022586.1:c.1279A>G, XM_017022584.2:c.1306A>G, XM_017022584.1:c.1306A>G, NM_001286429.2:c.1252A>G, NM_001286429.1:c.1252A>G, XM_017022585.2:c.1300A>G, XM_017022585.1:c.1300A>G, NM_001394532.1:c.2332A>G, XM_047433080.1:c.2332A>G, XP_011520345.1:p.Met456Val, NP_079093.2:p.Met778Val, XP_011520346.1:p.Met442Val, XP_016878071.1:p.Met484Val, XP_016878075.1:p.Met427Val, XP_016878073.1:p.Met436Val, NP_001273358.1:p.Met418Val, XP_016878074.1:p.Met434Val, NP_001381461.1:p.Met778Val, XP_047289036.1:p.Met778Val

          5.

          rs1482717834 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:71746893 (GRCh38)
            15:72039232 (GRCh37)
            Canonical SPDI:
            NC_000015.10:71746892:C:T
            Gene:
            THSD4 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000015.10:g.71746893C>T, NC_000015.9:g.72039232C>T, XM_011522043.4:c.1126C>T, XM_011522043.3:c.1126C>T, XM_011522043.2:c.1126C>T, XM_011522043.1:c.1126C>T, NM_024817.3:c.2092C>T, NM_024817.2:c.2092C>T, XM_011522044.3:c.1084C>T, XM_011522044.2:c.1084C>T, XM_011522044.1:c.1084C>T, XM_017022582.3:c.1210C>T, XM_017022582.2:c.1210C>T, XM_017022582.1:c.1210C>T, XM_017022586.2:c.1039C>T, XM_017022586.1:c.1039C>T, XM_017022584.2:c.1066C>T, XM_017022584.1:c.1066C>T, NM_001286429.2:c.1012C>T, NM_001286429.1:c.1012C>T, XM_017022585.2:c.1060C>T, XM_017022585.1:c.1060C>T, NM_001394532.1:c.2092C>T, XM_047433080.1:c.2092C>T, XP_011520345.1:p.His376Tyr, NP_079093.2:p.His698Tyr, XP_011520346.1:p.His362Tyr, XP_016878071.1:p.His404Tyr, XP_016878075.1:p.His347Tyr, XP_016878073.1:p.His356Tyr, NP_001273358.1:p.His338Tyr, XP_016878074.1:p.His354Tyr, NP_001381461.1:p.His698Tyr, XP_047289036.1:p.His698Tyr

            6.

            rs1479525239 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:71777325 (GRCh38)
              15:72069664 (GRCh37)
              Canonical SPDI:
              NC_000015.10:71777324:C:T
              Gene:
              THSD4 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.71777325C>T, NC_000015.9:g.72069664C>T, XM_011522043.4:c.2042C>T, XM_011522043.3:c.2042C>T, XM_011522043.2:c.2042C>T, XM_011522043.1:c.2042C>T, NM_024817.3:c.3008C>T, NM_024817.2:c.3008C>T, XM_011522044.3:c.2000C>T, XM_011522044.2:c.2000C>T, XM_011522044.1:c.2000C>T, XM_017022582.3:c.2126C>T, XM_017022582.2:c.2126C>T, XM_017022582.1:c.2126C>T, XM_017022586.2:c.1955C>T, XM_017022586.1:c.1955C>T, XM_017022584.2:c.1982C>T, XM_017022584.1:c.1982C>T, NM_001286429.2:c.1928C>T, NM_001286429.1:c.1928C>T, XM_017022585.2:c.1976C>T, XM_017022585.1:c.1976C>T, NM_001394532.1:c.3008C>T, XM_047433080.1:c.3008C>T, XP_011520345.1:p.Ser681Phe, NP_079093.2:p.Ser1003Phe, XP_011520346.1:p.Ser667Phe, XP_016878071.1:p.Ser709Phe, XP_016878075.1:p.Ser652Phe, XP_016878073.1:p.Ser661Phe, NP_001273358.1:p.Ser643Phe, XP_016878074.1:p.Ser659Phe, NP_001381461.1:p.Ser1003Phe, XP_047289036.1:p.Ser1003Phe

              7.

              rs1476778998 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                15:71745147 (GRCh38)
                15:72037486 (GRCh37)
                Canonical SPDI:
                NC_000015.10:71745146:C:T
                Gene:
                THSD4 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.71745147C>T, NC_000015.9:g.72037486C>T, XM_011522043.4:c.982C>T, XM_011522043.3:c.982C>T, XM_011522043.2:c.982C>T, XM_011522043.1:c.982C>T, NM_024817.3:c.1948C>T, NM_024817.2:c.1948C>T, XM_011522044.3:c.940C>T, XM_011522044.2:c.940C>T, XM_011522044.1:c.940C>T, XM_017022582.3:c.1066C>T, XM_017022582.2:c.1066C>T, XM_017022582.1:c.1066C>T, XM_017022586.2:c.895C>T, XM_017022586.1:c.895C>T, XM_017022584.2:c.922C>T, XM_017022584.1:c.922C>T, NM_001286429.2:c.868C>T, NM_001286429.1:c.868C>T, XM_017022585.2:c.916C>T, XM_017022585.1:c.916C>T, NM_001394532.1:c.1948C>T, XM_047433080.1:c.1948C>T, XP_011520345.1:p.His328Tyr, NP_079093.2:p.His650Tyr, XP_011520346.1:p.His314Tyr, XP_016878071.1:p.His356Tyr, XP_016878075.1:p.His299Tyr, XP_016878073.1:p.His308Tyr, NP_001273358.1:p.His290Tyr, XP_016878074.1:p.His306Tyr, NP_001381461.1:p.His650Tyr, XP_047289036.1:p.His650Tyr

                8.

                rs1474783358 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:71765087 (GRCh38)
                  15:72057426 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:71765086:C:T
                  Gene:
                  THSD4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.71765087C>T, NC_000015.9:g.72057426C>T, XM_011522043.4:c.1691C>T, XM_011522043.3:c.1691C>T, XM_011522043.2:c.1691C>T, XM_011522043.1:c.1691C>T, NM_024817.3:c.2657C>T, NM_024817.2:c.2657C>T, XM_011522044.3:c.1649C>T, XM_011522044.2:c.1649C>T, XM_011522044.1:c.1649C>T, XM_017022582.3:c.1775C>T, XM_017022582.2:c.1775C>T, XM_017022582.1:c.1775C>T, XM_017022586.2:c.1604C>T, XM_017022586.1:c.1604C>T, XM_017022584.2:c.1631C>T, XM_017022584.1:c.1631C>T, NM_001286429.2:c.1577C>T, NM_001286429.1:c.1577C>T, XM_017022585.2:c.1625C>T, XM_017022585.1:c.1625C>T, NM_001394532.1:c.2657C>T, XM_047433080.1:c.2657C>T, XP_011520345.1:p.Thr564Ile, NP_079093.2:p.Thr886Ile, XP_011520346.1:p.Thr550Ile, XP_016878071.1:p.Thr592Ile, XP_016878075.1:p.Thr535Ile, XP_016878073.1:p.Thr544Ile, NP_001273358.1:p.Thr526Ile, XP_016878074.1:p.Thr542Ile, NP_001381461.1:p.Thr886Ile, XP_047289036.1:p.Thr886Ile

                  9.

                  rs1473381198 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    15:71745214 (GRCh38)
                    15:72037553 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:71745213:A:T
                    Gene:
                    THSD4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.71745214A>T, NC_000015.9:g.72037553A>T, XM_011522043.4:c.1049A>T, XM_011522043.3:c.1049A>T, XM_011522043.2:c.1049A>T, XM_011522043.1:c.1049A>T, NM_024817.3:c.2015A>T, NM_024817.2:c.2015A>T, XM_011522044.3:c.1007A>T, XM_011522044.2:c.1007A>T, XM_011522044.1:c.1007A>T, XM_017022582.3:c.1133A>T, XM_017022582.2:c.1133A>T, XM_017022582.1:c.1133A>T, XM_017022586.2:c.962A>T, XM_017022586.1:c.962A>T, XM_017022584.2:c.989A>T, XM_017022584.1:c.989A>T, NM_001286429.2:c.935A>T, NM_001286429.1:c.935A>T, XM_017022585.2:c.983A>T, XM_017022585.1:c.983A>T, NM_001394532.1:c.2015A>T, XM_047433080.1:c.2015A>T, XP_011520345.1:p.Asn350Ile, NP_079093.2:p.Asn672Ile, XP_011520346.1:p.Asn336Ile, XP_016878071.1:p.Asn378Ile, XP_016878075.1:p.Asn321Ile, XP_016878073.1:p.Asn330Ile, NP_001273358.1:p.Asn312Ile, XP_016878074.1:p.Asn328Ile, NP_001381461.1:p.Asn672Ile, XP_047289036.1:p.Asn672Ile

                    10.

                    rs1473328074 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      15:71748592 (GRCh38)
                      15:72040931 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:71748591:A:C
                      Gene:
                      THSD4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000111/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1471341510 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:71765174 (GRCh38)
                        15:72057513 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:71765173:A:G
                        Gene:
                        THSD4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.71765174A>G, NC_000015.9:g.72057513A>G, XM_011522043.4:c.1778A>G, XM_011522043.3:c.1778A>G, XM_011522043.2:c.1778A>G, XM_011522043.1:c.1778A>G, NM_024817.3:c.2744A>G, NM_024817.2:c.2744A>G, XM_011522044.3:c.1736A>G, XM_011522044.2:c.1736A>G, XM_011522044.1:c.1736A>G, XM_017022582.3:c.1862A>G, XM_017022582.2:c.1862A>G, XM_017022582.1:c.1862A>G, XM_017022586.2:c.1691A>G, XM_017022586.1:c.1691A>G, XM_017022584.2:c.1718A>G, XM_017022584.1:c.1718A>G, NM_001286429.2:c.1664A>G, NM_001286429.1:c.1664A>G, XM_017022585.2:c.1712A>G, XM_017022585.1:c.1712A>G, NM_001394532.1:c.2744A>G, XM_047433080.1:c.2744A>G, XP_011520345.1:p.Lys593Arg, NP_079093.2:p.Lys915Arg, XP_011520346.1:p.Lys579Arg, XP_016878071.1:p.Lys621Arg, XP_016878075.1:p.Lys564Arg, XP_016878073.1:p.Lys573Arg, NP_001273358.1:p.Lys555Arg, XP_016878074.1:p.Lys571Arg, NP_001381461.1:p.Lys915Arg, XP_047289036.1:p.Lys915Arg

                        12.

                        rs1470268362 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          15:71771150 (GRCh38)
                          15:72063489 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:71771149:T:G
                          Gene:
                          THSD4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          G=0.000389/7 (TOMMO)
                          HGVS:

                          13.

                          rs1470191178 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:71758011 (GRCh38)
                            15:72050350 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:71758010:C:T
                            Gene:
                            THSD4 (Varview)
                            Functional Consequence:
                            coding_sequence_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_000015.10:g.71758011C>T, NC_000015.9:g.72050350C>T, XM_011522043.4:c.1559C>T, XM_011522043.3:c.1559C>T, XM_011522043.2:c.1559C>T, XM_011522043.1:c.1559C>T, NM_024817.3:c.2525C>T, NM_024817.2:c.2525C>T, XM_011522044.3:c.1517C>T, XM_011522044.2:c.1517C>T, XM_011522044.1:c.1517C>T, XM_017022582.3:c.1643C>T, XM_017022582.2:c.1643C>T, XM_017022582.1:c.1643C>T, XM_017022586.2:c.1472C>T, XM_017022586.1:c.1472C>T, XM_017022584.2:c.1499C>T, XM_017022584.1:c.1499C>T, NM_001286429.2:c.1445C>T, NM_001286429.1:c.1445C>T, XM_017022585.2:c.1493C>T, XM_017022585.1:c.1493C>T, NM_001394532.1:c.2525C>T, XM_047433080.1:c.2525C>T, XP_011520345.1:p.Ala520Val, NP_079093.2:p.Ala842Val, XP_011520346.1:p.Ala506Val, XP_016878071.1:p.Ala548Val, XP_016878075.1:p.Ala491Val, XP_016878073.1:p.Ala500Val, NP_001273358.1:p.Ala482Val, XP_016878074.1:p.Ala498Val, NP_001381461.1:p.Ala842Val, XP_047289036.1:p.Ala842Val

                            14.

                            rs1470133789 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              15:71771172 (GRCh38)
                              15:72063511 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:71771171:G:A,NC_000015.10:71771171:G:C
                              Gene:
                              THSD4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000028/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000015.10:g.71771172G>A, NC_000015.10:g.71771172G>C, NC_000015.9:g.72063511G>A, NC_000015.9:g.72063511G>C, XM_011522043.4:c.1912G>A, XM_011522043.4:c.1912G>C, XM_011522043.3:c.1912G>A, XM_011522043.3:c.1912G>C, XM_011522043.2:c.1912G>A, XM_011522043.2:c.1912G>C, XM_011522043.1:c.1912G>A, XM_011522043.1:c.1912G>C, NM_024817.3:c.2878G>A, NM_024817.3:c.2878G>C, NM_024817.2:c.2878G>A, NM_024817.2:c.2878G>C, XM_011522044.3:c.1870G>A, XM_011522044.3:c.1870G>C, XM_011522044.2:c.1870G>A, XM_011522044.2:c.1870G>C, XM_011522044.1:c.1870G>A, XM_011522044.1:c.1870G>C, XM_017022582.3:c.1996G>A, XM_017022582.3:c.1996G>C, XM_017022582.2:c.1996G>A, XM_017022582.2:c.1996G>C, XM_017022582.1:c.1996G>A, XM_017022582.1:c.1996G>C, XM_017022586.2:c.1825G>A, XM_017022586.2:c.1825G>C, XM_017022586.1:c.1825G>A, XM_017022586.1:c.1825G>C, XM_017022584.2:c.1852G>A, XM_017022584.2:c.1852G>C, XM_017022584.1:c.1852G>A, XM_017022584.1:c.1852G>C, NM_001286429.2:c.1798G>A, NM_001286429.2:c.1798G>C, NM_001286429.1:c.1798G>A, NM_001286429.1:c.1798G>C, XM_017022585.2:c.1846G>A, XM_017022585.2:c.1846G>C, XM_017022585.1:c.1846G>A, XM_017022585.1:c.1846G>C, NM_001394532.1:c.2878G>A, NM_001394532.1:c.2878G>C, XM_047433080.1:c.2878G>A, XM_047433080.1:c.2878G>C, XP_011520345.1:p.Glu638Lys, XP_011520345.1:p.Glu638Gln, NP_079093.2:p.Glu960Lys, NP_079093.2:p.Glu960Gln, XP_011520346.1:p.Glu624Lys, XP_011520346.1:p.Glu624Gln, XP_016878071.1:p.Glu666Lys, XP_016878071.1:p.Glu666Gln, XP_016878075.1:p.Glu609Lys, XP_016878075.1:p.Glu609Gln, XP_016878073.1:p.Glu618Lys, XP_016878073.1:p.Glu618Gln, NP_001273358.1:p.Glu600Lys, NP_001273358.1:p.Glu600Gln, XP_016878074.1:p.Glu616Lys, XP_016878074.1:p.Glu616Gln, NP_001381461.1:p.Glu960Lys, NP_001381461.1:p.Glu960Gln, XP_047289036.1:p.Glu960Lys, XP_047289036.1:p.Glu960Gln

                              15.

                              rs1468626923 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                15:71765092 (GRCh38)
                                15:72057431 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:71765091:G:A
                                Gene:
                                THSD4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.71765092G>A, NC_000015.9:g.72057431G>A, XM_011522043.4:c.1696G>A, XM_011522043.3:c.1696G>A, XM_011522043.2:c.1696G>A, XM_011522043.1:c.1696G>A, NM_024817.3:c.2662G>A, NM_024817.2:c.2662G>A, XM_011522044.3:c.1654G>A, XM_011522044.2:c.1654G>A, XM_011522044.1:c.1654G>A, XM_017022582.3:c.1780G>A, XM_017022582.2:c.1780G>A, XM_017022582.1:c.1780G>A, XM_017022586.2:c.1609G>A, XM_017022586.1:c.1609G>A, XM_017022584.2:c.1636G>A, XM_017022584.1:c.1636G>A, NM_001286429.2:c.1582G>A, NM_001286429.1:c.1582G>A, XM_017022585.2:c.1630G>A, XM_017022585.1:c.1630G>A, NM_001394532.1:c.2662G>A, XM_047433080.1:c.2662G>A, XP_011520345.1:p.Glu566Lys, NP_079093.2:p.Glu888Lys, XP_011520346.1:p.Glu552Lys, XP_016878071.1:p.Glu594Lys, XP_016878075.1:p.Glu537Lys, XP_016878073.1:p.Glu546Lys, NP_001273358.1:p.Glu528Lys, XP_016878074.1:p.Glu544Lys, NP_001381461.1:p.Glu888Lys, XP_047289036.1:p.Glu888Lys

                                16.

                                rs1467949632 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:71411729 (GRCh38)
                                  15:71704068 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:71411728:G:A
                                  Gene:
                                  THSD4 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1465707648 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    15:71745234 (GRCh38)
                                    15:72037573 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:71745233:T:C
                                    Gene:
                                    THSD4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000015.10:g.71745234T>C, NC_000015.9:g.72037573T>C, XM_011522043.4:c.1069T>C, XM_011522043.3:c.1069T>C, XM_011522043.2:c.1069T>C, XM_011522043.1:c.1069T>C, NM_024817.3:c.2035T>C, NM_024817.2:c.2035T>C, XM_011522044.3:c.1027T>C, XM_011522044.2:c.1027T>C, XM_011522044.1:c.1027T>C, XM_017022582.3:c.1153T>C, XM_017022582.2:c.1153T>C, XM_017022582.1:c.1153T>C, XM_017022586.2:c.982T>C, XM_017022586.1:c.982T>C, XM_017022584.2:c.1009T>C, XM_017022584.1:c.1009T>C, NM_001286429.2:c.955T>C, NM_001286429.1:c.955T>C, XM_017022585.2:c.1003T>C, XM_017022585.1:c.1003T>C, NM_001394532.1:c.2035T>C, XM_047433080.1:c.2035T>C, XP_011520345.1:p.Phe357Leu, NP_079093.2:p.Phe679Leu, XP_011520346.1:p.Phe343Leu, XP_016878071.1:p.Phe385Leu, XP_016878075.1:p.Phe328Leu, XP_016878073.1:p.Phe337Leu, NP_001273358.1:p.Phe319Leu, XP_016878074.1:p.Phe335Leu, NP_001381461.1:p.Phe679Leu, XP_047289036.1:p.Phe679Leu

                                    18.

                                    rs1465306447 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      15:71748452 (GRCh38)
                                      15:72040791 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:71748451:C:G,NC_000015.10:71748451:C:T
                                      Gene:
                                      THSD4 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000028/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.71748452C>G, NC_000015.10:g.71748452C>T, NC_000015.9:g.72040791C>G, NC_000015.9:g.72040791C>T, XM_011522043.4:c.1307C>G, XM_011522043.4:c.1307C>T, XM_011522043.3:c.1307C>G, XM_011522043.3:c.1307C>T, XM_011522043.2:c.1307C>G, XM_011522043.2:c.1307C>T, XM_011522043.1:c.1307C>G, XM_011522043.1:c.1307C>T, NM_024817.3:c.2273C>G, NM_024817.3:c.2273C>T, NM_024817.2:c.2273C>G, NM_024817.2:c.2273C>T, XM_011522044.3:c.1265C>G, XM_011522044.3:c.1265C>T, XM_011522044.2:c.1265C>G, XM_011522044.2:c.1265C>T, XM_011522044.1:c.1265C>G, XM_011522044.1:c.1265C>T, XM_017022582.3:c.1391C>G, XM_017022582.3:c.1391C>T, XM_017022582.2:c.1391C>G, XM_017022582.2:c.1391C>T, XM_017022582.1:c.1391C>G, XM_017022582.1:c.1391C>T, XM_017022586.2:c.1220C>G, XM_017022586.2:c.1220C>T, XM_017022586.1:c.1220C>G, XM_017022586.1:c.1220C>T, XM_017022584.2:c.1247C>G, XM_017022584.2:c.1247C>T, XM_017022584.1:c.1247C>G, XM_017022584.1:c.1247C>T, NM_001286429.2:c.1193C>G, NM_001286429.2:c.1193C>T, NM_001286429.1:c.1193C>G, NM_001286429.1:c.1193C>T, XM_017022585.2:c.1241C>G, XM_017022585.2:c.1241C>T, XM_017022585.1:c.1241C>G, XM_017022585.1:c.1241C>T, NM_001394532.1:c.2273C>G, NM_001394532.1:c.2273C>T, XM_047433080.1:c.2273C>G, XM_047433080.1:c.2273C>T, XP_011520345.1:p.Thr436Ser, XP_011520345.1:p.Thr436Ile, NP_079093.2:p.Thr758Ser, NP_079093.2:p.Thr758Ile, XP_011520346.1:p.Thr422Ser, XP_011520346.1:p.Thr422Ile, XP_016878071.1:p.Thr464Ser, XP_016878071.1:p.Thr464Ile, XP_016878075.1:p.Thr407Ser, XP_016878075.1:p.Thr407Ile, XP_016878073.1:p.Thr416Ser, XP_016878073.1:p.Thr416Ile, NP_001273358.1:p.Thr398Ser, NP_001273358.1:p.Thr398Ile, XP_016878074.1:p.Thr414Ser, XP_016878074.1:p.Thr414Ile, NP_001381461.1:p.Thr758Ser, NP_001381461.1:p.Thr758Ile, XP_047289036.1:p.Thr758Ser, XP_047289036.1:p.Thr758Ile

                                      19.

                                      rs1463257253 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        15:71737955 (GRCh38)
                                        15:72030294 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:71737954:T:C
                                        Gene:
                                        THSD4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1462062756 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:71748594 (GRCh38)
                                          15:72040933 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:71748593:G:A
                                          Gene:
                                          THSD4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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