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 539

1.

rs1488939939 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:42191402 (GRCh38)
    1:42657073 (GRCh37)
    Canonical SPDI:
    NC_000001.11:42191401:G:A
    Gene:
    FOXJ3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.42191402G>A, NC_000001.10:g.42657073G>A, NM_014947.5:c.1252C>T, NM_014947.4:c.1252C>T, XM_006710458.5:c.1207C>T, XM_006710458.4:c.1207C>T, XM_006710458.3:c.1207C>T, XM_006710458.2:c.1207C>T, XM_006710458.1:c.1207C>T, XM_005270632.5:c.1276C>T, XM_005270632.4:c.1276C>T, XM_005270632.3:c.1276C>T, XM_005270632.2:c.1276C>T, XM_005270632.1:c.1276C>T, XM_006710459.4:c.1174C>T, XM_006710459.3:c.1174C>T, XM_006710459.2:c.1174C>T, XM_006710459.1:c.1174C>T, XM_017000693.3:c.1105C>T, XM_017000693.2:c.1105C>T, XM_017000693.1:c.1105C>T, XM_024454163.2:c.1252C>T, XM_024454163.1:c.1252C>T, NM_001198851.2:c.1252C>T, NM_001198851.1:c.1252C>T, NM_001198850.2:c.1252C>T, NM_001198850.1:c.1252C>T, XM_017000694.2:c.946C>T, XM_017000694.1:c.946C>T, NM_001198852.2:c.1150C>T, NM_001198852.1:c.1150C>T, XM_047449471.1:c.1252C>T, XM_047449474.1:c.1252C>T, XM_047449489.1:c.1150C>T, XM_047449486.1:c.1207C>T, XM_047449488.1:c.1150C>T, XM_047449478.1:c.1252C>T, NP_055762.3:p.Pro418Ser, XP_006710521.1:p.Pro403Ser, XP_005270689.1:p.Pro426Ser, XP_006710522.1:p.Pro392Ser, XP_016856182.1:p.Pro369Ser, XP_024309931.1:p.Pro418Ser, NP_001185780.1:p.Pro418Ser, NP_001185779.1:p.Pro418Ser, XP_016856183.1:p.Pro316Ser, NP_001185781.1:p.Pro384Ser, XP_047305427.1:p.Pro418Ser, XP_047305430.1:p.Pro418Ser, XP_047305445.1:p.Pro384Ser, XP_047305442.1:p.Pro403Ser, XP_047305444.1:p.Pro384Ser, XP_047305434.1:p.Pro418Ser

    2.

    rs1482844393 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:42191348 (GRCh38)
      1:42657019 (GRCh37)
      Canonical SPDI:
      NC_000001.11:42191347:T:C
      Gene:
      FOXJ3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.42191348T>C, NC_000001.10:g.42657019T>C, NM_014947.5:c.1306A>G, NM_014947.4:c.1306A>G, XM_006710458.5:c.1261A>G, XM_006710458.4:c.1261A>G, XM_006710458.3:c.1261A>G, XM_006710458.2:c.1261A>G, XM_006710458.1:c.1261A>G, XM_005270632.5:c.1330A>G, XM_005270632.4:c.1330A>G, XM_005270632.3:c.1330A>G, XM_005270632.2:c.1330A>G, XM_005270632.1:c.1330A>G, XM_006710459.4:c.1228A>G, XM_006710459.3:c.1228A>G, XM_006710459.2:c.1228A>G, XM_006710459.1:c.1228A>G, XM_017000693.3:c.1159A>G, XM_017000693.2:c.1159A>G, XM_017000693.1:c.1159A>G, XM_024454163.2:c.1306A>G, XM_024454163.1:c.1306A>G, NM_001198851.2:c.1306A>G, NM_001198851.1:c.1306A>G, NM_001198850.2:c.1306A>G, NM_001198850.1:c.1306A>G, XM_017000694.2:c.1000A>G, XM_017000694.1:c.1000A>G, NM_001198852.2:c.1204A>G, NM_001198852.1:c.1204A>G, XM_047449471.1:c.1306A>G, XM_047449474.1:c.1306A>G, XM_047449489.1:c.1204A>G, XM_047449486.1:c.1261A>G, XM_047449488.1:c.1204A>G, XM_047449478.1:c.1306A>G, NP_055762.3:p.Thr436Ala, XP_006710521.1:p.Thr421Ala, XP_005270689.1:p.Thr444Ala, XP_006710522.1:p.Thr410Ala, XP_016856182.1:p.Thr387Ala, XP_024309931.1:p.Thr436Ala, NP_001185780.1:p.Thr436Ala, NP_001185779.1:p.Thr436Ala, XP_016856183.1:p.Thr334Ala, NP_001185781.1:p.Thr402Ala, XP_047305427.1:p.Thr436Ala, XP_047305430.1:p.Thr436Ala, XP_047305445.1:p.Thr402Ala, XP_047305442.1:p.Thr421Ala, XP_047305444.1:p.Thr402Ala, XP_047305434.1:p.Thr436Ala

      3.

      rs1481353327 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        1:42188742 (GRCh38)
        1:42654413 (GRCh37)
        Canonical SPDI:
        NC_000001.11:42188741:C:G,NC_000001.11:42188741:C:T
        Gene:
        FOXJ3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.42188742C>G, NC_000001.11:g.42188742C>T, NC_000001.10:g.42654413C>G, NC_000001.10:g.42654413C>T, NM_014947.5:c.1640G>C, NM_014947.5:c.1640G>A, NM_014947.4:c.1640G>C, NM_014947.4:c.1640G>A, XM_006710458.5:c.1595G>C, XM_006710458.5:c.1595G>A, XM_006710458.4:c.1595G>C, XM_006710458.4:c.1595G>A, XM_006710458.3:c.1595G>C, XM_006710458.3:c.1595G>A, XM_006710458.2:c.1595G>C, XM_006710458.2:c.1595G>A, XM_006710458.1:c.1595G>C, XM_006710458.1:c.1595G>A, XM_005270632.5:c.1664G>C, XM_005270632.5:c.1664G>A, XM_005270632.4:c.1664G>C, XM_005270632.4:c.1664G>A, XM_005270632.3:c.1664G>C, XM_005270632.3:c.1664G>A, XM_005270632.2:c.1664G>C, XM_005270632.2:c.1664G>A, XM_005270632.1:c.1664G>C, XM_005270632.1:c.1664G>A, XM_006710459.4:c.1562G>C, XM_006710459.4:c.1562G>A, XM_006710459.3:c.1562G>C, XM_006710459.3:c.1562G>A, XM_006710459.2:c.1562G>C, XM_006710459.2:c.1562G>A, XM_006710459.1:c.1562G>C, XM_006710459.1:c.1562G>A, XM_017000693.3:c.1493G>C, XM_017000693.3:c.1493G>A, XM_017000693.2:c.1493G>C, XM_017000693.2:c.1493G>A, XM_017000693.1:c.1493G>C, XM_017000693.1:c.1493G>A, XM_024454163.2:c.1640G>C, XM_024454163.2:c.1640G>A, XM_024454163.1:c.1640G>C, XM_024454163.1:c.1640G>A, NM_001198851.2:c.1640G>C, NM_001198851.2:c.1640G>A, NM_001198851.1:c.1640G>C, NM_001198851.1:c.1640G>A, NM_001198850.2:c.1640G>C, NM_001198850.2:c.1640G>A, NM_001198850.1:c.1640G>C, NM_001198850.1:c.1640G>A, XM_017000694.2:c.1334G>C, XM_017000694.2:c.1334G>A, XM_017000694.1:c.1334G>C, XM_017000694.1:c.1334G>A, NM_001198852.2:c.1538G>C, NM_001198852.2:c.1538G>A, NM_001198852.1:c.1538G>C, NM_001198852.1:c.1538G>A, XM_047449471.1:c.1640G>C, XM_047449471.1:c.1640G>A, XM_047449474.1:c.1640G>C, XM_047449474.1:c.1640G>A, XM_047449489.1:c.1538G>C, XM_047449489.1:c.1538G>A, XM_047449486.1:c.1595G>C, XM_047449486.1:c.1595G>A, XM_047449488.1:c.1538G>C, XM_047449488.1:c.1538G>A, XM_047449478.1:c.1640G>C, XM_047449478.1:c.1640G>A, NP_055762.3:p.Gly547Ala, NP_055762.3:p.Gly547Glu, XP_006710521.1:p.Gly532Ala, XP_006710521.1:p.Gly532Glu, XP_005270689.1:p.Gly555Ala, XP_005270689.1:p.Gly555Glu, XP_006710522.1:p.Gly521Ala, XP_006710522.1:p.Gly521Glu, XP_016856182.1:p.Gly498Ala, XP_016856182.1:p.Gly498Glu, XP_024309931.1:p.Gly547Ala, XP_024309931.1:p.Gly547Glu, NP_001185780.1:p.Gly547Ala, NP_001185780.1:p.Gly547Glu, NP_001185779.1:p.Gly547Ala, NP_001185779.1:p.Gly547Glu, XP_016856183.1:p.Gly445Ala, XP_016856183.1:p.Gly445Glu, NP_001185781.1:p.Gly513Ala, NP_001185781.1:p.Gly513Glu, XP_047305427.1:p.Gly547Ala, XP_047305427.1:p.Gly547Glu, XP_047305430.1:p.Gly547Ala, XP_047305430.1:p.Gly547Glu, XP_047305445.1:p.Gly513Ala, XP_047305445.1:p.Gly513Glu, XP_047305442.1:p.Gly532Ala, XP_047305442.1:p.Gly532Glu, XP_047305444.1:p.Gly513Ala, XP_047305444.1:p.Gly513Glu, XP_047305434.1:p.Gly547Ala, XP_047305434.1:p.Gly547Glu

        4.

        rs1479000126 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:42195046 (GRCh38)
          1:42660717 (GRCh37)
          Canonical SPDI:
          NC_000001.11:42195045:A:C
          Gene:
          FOXJ3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.42195046A>C, NC_000001.10:g.42660717A>C, NM_014947.5:c.778T>G, NM_014947.4:c.778T>G, XM_006710458.5:c.733T>G, XM_006710458.4:c.733T>G, XM_006710458.3:c.733T>G, XM_006710458.2:c.733T>G, XM_006710458.1:c.733T>G, XM_005270632.5:c.802T>G, XM_005270632.4:c.802T>G, XM_005270632.3:c.802T>G, XM_005270632.2:c.802T>G, XM_005270632.1:c.802T>G, XM_006710459.4:c.700T>G, XM_006710459.3:c.700T>G, XM_006710459.2:c.700T>G, XM_006710459.1:c.700T>G, XM_017000693.3:c.631T>G, XM_017000693.2:c.631T>G, XM_017000693.1:c.631T>G, XM_024454163.2:c.778T>G, XM_024454163.1:c.778T>G, NM_001198851.2:c.778T>G, NM_001198851.1:c.778T>G, NM_001198850.2:c.778T>G, NM_001198850.1:c.778T>G, XM_017000694.2:c.472T>G, XM_017000694.1:c.472T>G, NM_001198852.2:c.676T>G, NM_001198852.1:c.676T>G, XM_047449471.1:c.778T>G, XM_047449474.1:c.778T>G, XM_047449489.1:c.676T>G, XM_047449486.1:c.733T>G, XM_047449488.1:c.676T>G, XM_047449478.1:c.778T>G, NP_055762.3:p.Ser260Ala, XP_006710521.1:p.Ser245Ala, XP_005270689.1:p.Ser268Ala, XP_006710522.1:p.Ser234Ala, XP_016856182.1:p.Ser211Ala, XP_024309931.1:p.Ser260Ala, NP_001185780.1:p.Ser260Ala, NP_001185779.1:p.Ser260Ala, XP_016856183.1:p.Ser158Ala, NP_001185781.1:p.Ser226Ala, XP_047305427.1:p.Ser260Ala, XP_047305430.1:p.Ser260Ala, XP_047305445.1:p.Ser226Ala, XP_047305442.1:p.Ser245Ala, XP_047305444.1:p.Ser226Ala, XP_047305434.1:p.Ser260Ala

          5.

          rs1475546273 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:42181984 (GRCh38)
            1:42647655 (GRCh37)
            Canonical SPDI:
            NC_000001.11:42181983:T:C
            Gene:
            FOXJ3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.42181984T>C, NC_000001.10:g.42647655T>C, NM_014947.5:c.1686A>G, NM_014947.4:c.1686A>G, XM_006710458.5:c.1641A>G, XM_006710458.4:c.1641A>G, XM_006710458.3:c.1641A>G, XM_006710458.2:c.1641A>G, XM_006710458.1:c.1641A>G, XM_005270632.5:c.1710A>G, XM_005270632.4:c.1710A>G, XM_005270632.3:c.1710A>G, XM_005270632.2:c.1710A>G, XM_005270632.1:c.1710A>G, XM_006710459.4:c.1608A>G, XM_006710459.3:c.1608A>G, XM_006710459.2:c.1608A>G, XM_006710459.1:c.1608A>G, XM_017000693.3:c.1539A>G, XM_017000693.2:c.1539A>G, XM_017000693.1:c.1539A>G, XM_024454163.2:c.1686A>G, XM_024454163.1:c.1686A>G, NM_001198851.2:c.1686A>G, NM_001198851.1:c.1686A>G, NM_001198850.2:c.1686A>G, NM_001198850.1:c.1686A>G, XM_017000694.2:c.1380A>G, XM_017000694.1:c.1380A>G, NM_001198852.2:c.1584A>G, NM_001198852.1:c.1584A>G, XM_047449471.1:c.1686A>G, XM_047449474.1:c.1686A>G, XM_047449489.1:c.1584A>G, XM_047449486.1:c.1641A>G, XM_047449488.1:c.1584A>G, XM_047449478.1:c.1686A>G

            6.

            rs1474383799 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:42194942 (GRCh38)
              1:42660613 (GRCh37)
              Canonical SPDI:
              NC_000001.11:42194941:G:A
              Gene:
              FOXJ3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.42194942G>A, NC_000001.10:g.42660613G>A, NM_014947.5:c.882C>T, NM_014947.4:c.882C>T, XM_006710458.5:c.837C>T, XM_006710458.4:c.837C>T, XM_006710458.3:c.837C>T, XM_006710458.2:c.837C>T, XM_006710458.1:c.837C>T, XM_005270632.5:c.906C>T, XM_005270632.4:c.906C>T, XM_005270632.3:c.906C>T, XM_005270632.2:c.906C>T, XM_005270632.1:c.906C>T, XM_006710459.4:c.804C>T, XM_006710459.3:c.804C>T, XM_006710459.2:c.804C>T, XM_006710459.1:c.804C>T, XM_017000693.3:c.735C>T, XM_017000693.2:c.735C>T, XM_017000693.1:c.735C>T, XM_024454163.2:c.882C>T, XM_024454163.1:c.882C>T, NM_001198851.2:c.882C>T, NM_001198851.1:c.882C>T, NM_001198850.2:c.882C>T, NM_001198850.1:c.882C>T, XM_017000694.2:c.576C>T, XM_017000694.1:c.576C>T, NM_001198852.2:c.780C>T, NM_001198852.1:c.780C>T, XM_047449471.1:c.882C>T, XM_047449474.1:c.882C>T, XM_047449489.1:c.780C>T, XM_047449486.1:c.837C>T, XM_047449488.1:c.780C>T, XM_047449478.1:c.882C>T

              7.

              rs1471785278 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:42191602 (GRCh38)
                1:42657273 (GRCh37)
                Canonical SPDI:
                NC_000001.11:42191601:T:C
                Gene:
                FOXJ3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.00002/5 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.42191602T>C, NC_000001.10:g.42657273T>C, NM_014947.5:c.1052A>G, NM_014947.4:c.1052A>G, XM_006710458.5:c.1007A>G, XM_006710458.4:c.1007A>G, XM_006710458.3:c.1007A>G, XM_006710458.2:c.1007A>G, XM_006710458.1:c.1007A>G, XM_005270632.5:c.1076A>G, XM_005270632.4:c.1076A>G, XM_005270632.3:c.1076A>G, XM_005270632.2:c.1076A>G, XM_005270632.1:c.1076A>G, XM_006710459.4:c.974A>G, XM_006710459.3:c.974A>G, XM_006710459.2:c.974A>G, XM_006710459.1:c.974A>G, XM_017000693.3:c.905A>G, XM_017000693.2:c.905A>G, XM_017000693.1:c.905A>G, XM_024454163.2:c.1052A>G, XM_024454163.1:c.1052A>G, NM_001198851.2:c.1052A>G, NM_001198851.1:c.1052A>G, NM_001198850.2:c.1052A>G, NM_001198850.1:c.1052A>G, XM_017000694.2:c.746A>G, XM_017000694.1:c.746A>G, NM_001198852.2:c.950A>G, NM_001198852.1:c.950A>G, XM_047449471.1:c.1052A>G, XM_047449474.1:c.1052A>G, XM_047449489.1:c.950A>G, XM_047449486.1:c.1007A>G, XM_047449488.1:c.950A>G, XM_047449478.1:c.1052A>G, NP_055762.3:p.Asn351Ser, XP_006710521.1:p.Asn336Ser, XP_005270689.1:p.Asn359Ser, XP_006710522.1:p.Asn325Ser, XP_016856182.1:p.Asn302Ser, XP_024309931.1:p.Asn351Ser, NP_001185780.1:p.Asn351Ser, NP_001185779.1:p.Asn351Ser, XP_016856183.1:p.Asn249Ser, NP_001185781.1:p.Asn317Ser, XP_047305427.1:p.Asn351Ser, XP_047305430.1:p.Asn351Ser, XP_047305445.1:p.Asn317Ser, XP_047305442.1:p.Asn336Ser, XP_047305444.1:p.Asn317Ser, XP_047305434.1:p.Asn351Ser

                8.

                rs1471405901 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:42188748 (GRCh38)
                  1:42654419 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:42188747:T:C
                  Gene:
                  FOXJ3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.42188748T>C, NC_000001.10:g.42654419T>C, NM_014947.5:c.1634A>G, NM_014947.4:c.1634A>G, XM_006710458.5:c.1589A>G, XM_006710458.4:c.1589A>G, XM_006710458.3:c.1589A>G, XM_006710458.2:c.1589A>G, XM_006710458.1:c.1589A>G, XM_005270632.5:c.1658A>G, XM_005270632.4:c.1658A>G, XM_005270632.3:c.1658A>G, XM_005270632.2:c.1658A>G, XM_005270632.1:c.1658A>G, XM_006710459.4:c.1556A>G, XM_006710459.3:c.1556A>G, XM_006710459.2:c.1556A>G, XM_006710459.1:c.1556A>G, XM_017000693.3:c.1487A>G, XM_017000693.2:c.1487A>G, XM_017000693.1:c.1487A>G, XM_024454163.2:c.1634A>G, XM_024454163.1:c.1634A>G, NM_001198851.2:c.1634A>G, NM_001198851.1:c.1634A>G, NM_001198850.2:c.1634A>G, NM_001198850.1:c.1634A>G, XM_017000694.2:c.1328A>G, XM_017000694.1:c.1328A>G, NM_001198852.2:c.1532A>G, NM_001198852.1:c.1532A>G, XM_047449471.1:c.1634A>G, XM_047449474.1:c.1634A>G, XM_047449489.1:c.1532A>G, XM_047449486.1:c.1589A>G, XM_047449488.1:c.1532A>G, XM_047449478.1:c.1634A>G, NP_055762.3:p.His545Arg, XP_006710521.1:p.His530Arg, XP_005270689.1:p.His553Arg, XP_006710522.1:p.His519Arg, XP_016856182.1:p.His496Arg, XP_024309931.1:p.His545Arg, NP_001185780.1:p.His545Arg, NP_001185779.1:p.His545Arg, XP_016856183.1:p.His443Arg, NP_001185781.1:p.His511Arg, XP_047305427.1:p.His545Arg, XP_047305430.1:p.His545Arg, XP_047305445.1:p.His511Arg, XP_047305442.1:p.His530Arg, XP_047305444.1:p.His511Arg, XP_047305434.1:p.His545Arg

                  9.

                  rs1470810740 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:42179779 (GRCh38)
                    1:42645450 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:42179778:G:A
                    Gene:
                    FOXJ3 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.42179779G>A, NC_000001.10:g.42645450G>A, NM_014947.5:c.1800C>T, NM_014947.4:c.1800C>T, XM_006710458.5:c.1755C>T, XM_006710458.4:c.1755C>T, XM_006710458.3:c.1755C>T, XM_006710458.2:c.1755C>T, XM_006710458.1:c.1755C>T, XM_005270632.5:c.1824C>T, XM_005270632.4:c.1824C>T, XM_005270632.3:c.1824C>T, XM_005270632.2:c.1824C>T, XM_005270632.1:c.1824C>T, XM_006710459.4:c.1722C>T, XM_006710459.3:c.1722C>T, XM_006710459.2:c.1722C>T, XM_006710459.1:c.1722C>T, XM_017000693.3:c.1653C>T, XM_017000693.2:c.1653C>T, XM_017000693.1:c.1653C>T, XM_024454163.2:c.1800C>T, XM_024454163.1:c.1800C>T, NM_001198851.2:c.1800C>T, NM_001198851.1:c.1800C>T, NM_001198850.2:c.1800C>T, NM_001198850.1:c.1800C>T, XM_017000694.2:c.1494C>T, XM_017000694.1:c.1494C>T, NM_001198852.2:c.1698C>T, NM_001198852.1:c.1698C>T, XM_047449471.1:c.1800C>T, XM_047449474.1:c.1800C>T, XM_047449489.1:c.1698C>T, XM_047449486.1:c.1755C>T, XM_047449488.1:c.1698C>T, XM_047449478.1:c.1800C>T

                    10.

                    rs1467130866 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:42199186 (GRCh38)
                      1:42664857 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:42199185:G:A
                      Gene:
                      FOXJ3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.42199186G>A, NC_000001.10:g.42664857G>A, NM_014947.5:c.675C>T, NM_014947.4:c.675C>T, XM_006710458.5:c.630C>T, XM_006710458.4:c.630C>T, XM_006710458.3:c.630C>T, XM_006710458.2:c.630C>T, XM_006710458.1:c.630C>T, XM_005270632.5:c.699C>T, XM_005270632.4:c.699C>T, XM_005270632.3:c.699C>T, XM_005270632.2:c.699C>T, XM_005270632.1:c.699C>T, XM_006710459.4:c.597C>T, XM_006710459.3:c.597C>T, XM_006710459.2:c.597C>T, XM_006710459.1:c.597C>T, XM_017000693.3:c.528C>T, XM_017000693.2:c.528C>T, XM_017000693.1:c.528C>T, XM_024454163.2:c.675C>T, XM_024454163.1:c.675C>T, NM_001198851.2:c.675C>T, NM_001198851.1:c.675C>T, NM_001198850.2:c.675C>T, NM_001198850.1:c.675C>T, XM_017000694.2:c.369C>T, XM_017000694.1:c.369C>T, NM_001198852.2:c.573C>T, NM_001198852.1:c.573C>T, XM_047449471.1:c.675C>T, XM_047449474.1:c.675C>T, XM_047449489.1:c.573C>T, XM_047449486.1:c.630C>T, XM_047449488.1:c.573C>T, XM_047449478.1:c.675C>T

                      11.

                      rs1465666365 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:42189355 (GRCh38)
                        1:42655026 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:42189354:A:G
                        Gene:
                        FOXJ3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000028/1 (ALFA)
                        G=0.000008/2 (GnomAD_exomes)
                        G=0.000015/4 (TOPMED)
                        G=0.000043/6 (GnomAD)
                        HGVS:
                        NC_000001.11:g.42189355A>G, NC_000001.10:g.42655026A>G, NM_014947.5:c.1401T>C, NM_014947.4:c.1401T>C, XM_006710458.5:c.1356T>C, XM_006710458.4:c.1356T>C, XM_006710458.3:c.1356T>C, XM_006710458.2:c.1356T>C, XM_006710458.1:c.1356T>C, XM_005270632.5:c.1425T>C, XM_005270632.4:c.1425T>C, XM_005270632.3:c.1425T>C, XM_005270632.2:c.1425T>C, XM_005270632.1:c.1425T>C, XM_006710459.4:c.1323T>C, XM_006710459.3:c.1323T>C, XM_006710459.2:c.1323T>C, XM_006710459.1:c.1323T>C, XM_017000693.3:c.1254T>C, XM_017000693.2:c.1254T>C, XM_017000693.1:c.1254T>C, XM_024454163.2:c.1401T>C, XM_024454163.1:c.1401T>C, NM_001198851.2:c.1401T>C, NM_001198851.1:c.1401T>C, NM_001198850.2:c.1401T>C, NM_001198850.1:c.1401T>C, XM_017000694.2:c.1095T>C, XM_017000694.1:c.1095T>C, NM_001198852.2:c.1299T>C, NM_001198852.1:c.1299T>C, XM_047449471.1:c.1401T>C, XM_047449474.1:c.1401T>C, XM_047449489.1:c.1299T>C, XM_047449486.1:c.1356T>C, XM_047449488.1:c.1299T>C, XM_047449478.1:c.1401T>C

                        12.

                        rs1464448742 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:42191547 (GRCh38)
                          1:42657218 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:42191546:T:C
                          Gene:
                          FOXJ3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_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_000001.11:g.42191547T>C, NC_000001.10:g.42657218T>C, NM_014947.5:c.1107A>G, NM_014947.4:c.1107A>G, XM_006710458.5:c.1062A>G, XM_006710458.4:c.1062A>G, XM_006710458.3:c.1062A>G, XM_006710458.2:c.1062A>G, XM_006710458.1:c.1062A>G, XM_005270632.5:c.1131A>G, XM_005270632.4:c.1131A>G, XM_005270632.3:c.1131A>G, XM_005270632.2:c.1131A>G, XM_005270632.1:c.1131A>G, XM_006710459.4:c.1029A>G, XM_006710459.3:c.1029A>G, XM_006710459.2:c.1029A>G, XM_006710459.1:c.1029A>G, XM_017000693.3:c.960A>G, XM_017000693.2:c.960A>G, XM_017000693.1:c.960A>G, XM_024454163.2:c.1107A>G, XM_024454163.1:c.1107A>G, NM_001198851.2:c.1107A>G, NM_001198851.1:c.1107A>G, NM_001198850.2:c.1107A>G, NM_001198850.1:c.1107A>G, XM_017000694.2:c.801A>G, XM_017000694.1:c.801A>G, NM_001198852.2:c.1005A>G, NM_001198852.1:c.1005A>G, XM_047449471.1:c.1107A>G, XM_047449474.1:c.1107A>G, XM_047449489.1:c.1005A>G, XM_047449486.1:c.1062A>G, XM_047449488.1:c.1005A>G, XM_047449478.1:c.1107A>G

                          13.

                          rs1463815269 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:42191463 (GRCh38)
                            1:42657134 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:42191462:G:A
                            Gene:
                            FOXJ3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000001.11:g.42191463G>A, NC_000001.10:g.42657134G>A, NM_014947.5:c.1191C>T, NM_014947.4:c.1191C>T, XM_006710458.5:c.1146C>T, XM_006710458.4:c.1146C>T, XM_006710458.3:c.1146C>T, XM_006710458.2:c.1146C>T, XM_006710458.1:c.1146C>T, XM_005270632.5:c.1215C>T, XM_005270632.4:c.1215C>T, XM_005270632.3:c.1215C>T, XM_005270632.2:c.1215C>T, XM_005270632.1:c.1215C>T, XM_006710459.4:c.1113C>T, XM_006710459.3:c.1113C>T, XM_006710459.2:c.1113C>T, XM_006710459.1:c.1113C>T, XM_017000693.3:c.1044C>T, XM_017000693.2:c.1044C>T, XM_017000693.1:c.1044C>T, XM_024454163.2:c.1191C>T, XM_024454163.1:c.1191C>T, NM_001198851.2:c.1191C>T, NM_001198851.1:c.1191C>T, NM_001198850.2:c.1191C>T, NM_001198850.1:c.1191C>T, XM_017000694.2:c.885C>T, XM_017000694.1:c.885C>T, NM_001198852.2:c.1089C>T, NM_001198852.1:c.1089C>T, XM_047449471.1:c.1191C>T, XM_047449474.1:c.1191C>T, XM_047449489.1:c.1089C>T, XM_047449486.1:c.1146C>T, XM_047449488.1:c.1089C>T, XM_047449478.1:c.1191C>T

                            14.

                            rs1463050719 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:42189372 (GRCh38)
                              1:42655043 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:42189371:T:C
                              Gene:
                              FOXJ3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000031/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.42189372T>C, NC_000001.10:g.42655043T>C, NM_014947.5:c.1384A>G, NM_014947.4:c.1384A>G, XM_006710458.5:c.1339A>G, XM_006710458.4:c.1339A>G, XM_006710458.3:c.1339A>G, XM_006710458.2:c.1339A>G, XM_006710458.1:c.1339A>G, XM_005270632.5:c.1408A>G, XM_005270632.4:c.1408A>G, XM_005270632.3:c.1408A>G, XM_005270632.2:c.1408A>G, XM_005270632.1:c.1408A>G, XM_006710459.4:c.1306A>G, XM_006710459.3:c.1306A>G, XM_006710459.2:c.1306A>G, XM_006710459.1:c.1306A>G, XM_017000693.3:c.1237A>G, XM_017000693.2:c.1237A>G, XM_017000693.1:c.1237A>G, XM_024454163.2:c.1384A>G, XM_024454163.1:c.1384A>G, NM_001198851.2:c.1384A>G, NM_001198851.1:c.1384A>G, NM_001198850.2:c.1384A>G, NM_001198850.1:c.1384A>G, XM_017000694.2:c.1078A>G, XM_017000694.1:c.1078A>G, NM_001198852.2:c.1282A>G, NM_001198852.1:c.1282A>G, XM_047449471.1:c.1384A>G, XM_047449474.1:c.1384A>G, XM_047449489.1:c.1282A>G, XM_047449486.1:c.1339A>G, XM_047449488.1:c.1282A>G, XM_047449478.1:c.1384A>G, NP_055762.3:p.Met462Val, XP_006710521.1:p.Met447Val, XP_005270689.1:p.Met470Val, XP_006710522.1:p.Met436Val, XP_016856182.1:p.Met413Val, XP_024309931.1:p.Met462Val, NP_001185780.1:p.Met462Val, NP_001185779.1:p.Met462Val, XP_016856183.1:p.Met360Val, NP_001185781.1:p.Met428Val, XP_047305427.1:p.Met462Val, XP_047305430.1:p.Met462Val, XP_047305445.1:p.Met428Val, XP_047305442.1:p.Met447Val, XP_047305444.1:p.Met428Val, XP_047305434.1:p.Met462Val

                              15.

                              rs1461497420 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:42179786 (GRCh38)
                                1:42645457 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:42179785:G:A
                                Gene:
                                FOXJ3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.42179786G>A, NC_000001.10:g.42645457G>A, NM_014947.5:c.1793C>T, NM_014947.4:c.1793C>T, XM_006710458.5:c.1748C>T, XM_006710458.4:c.1748C>T, XM_006710458.3:c.1748C>T, XM_006710458.2:c.1748C>T, XM_006710458.1:c.1748C>T, XM_005270632.5:c.1817C>T, XM_005270632.4:c.1817C>T, XM_005270632.3:c.1817C>T, XM_005270632.2:c.1817C>T, XM_005270632.1:c.1817C>T, XM_006710459.4:c.1715C>T, XM_006710459.3:c.1715C>T, XM_006710459.2:c.1715C>T, XM_006710459.1:c.1715C>T, XM_017000693.3:c.1646C>T, XM_017000693.2:c.1646C>T, XM_017000693.1:c.1646C>T, XM_024454163.2:c.1793C>T, XM_024454163.1:c.1793C>T, NM_001198851.2:c.1793C>T, NM_001198851.1:c.1793C>T, NM_001198850.2:c.1793C>T, NM_001198850.1:c.1793C>T, XM_017000694.2:c.1487C>T, XM_017000694.1:c.1487C>T, NM_001198852.2:c.1691C>T, NM_001198852.1:c.1691C>T, XM_047449471.1:c.1793C>T, XM_047449474.1:c.1793C>T, XM_047449489.1:c.1691C>T, XM_047449486.1:c.1748C>T, XM_047449488.1:c.1691C>T, XM_047449478.1:c.1793C>T, NP_055762.3:p.Ser598Phe, XP_006710521.1:p.Ser583Phe, XP_005270689.1:p.Ser606Phe, XP_006710522.1:p.Ser572Phe, XP_016856182.1:p.Ser549Phe, XP_024309931.1:p.Ser598Phe, NP_001185780.1:p.Ser598Phe, NP_001185779.1:p.Ser598Phe, XP_016856183.1:p.Ser496Phe, NP_001185781.1:p.Ser564Phe, XP_047305427.1:p.Ser598Phe, XP_047305430.1:p.Ser598Phe, XP_047305445.1:p.Ser564Phe, XP_047305442.1:p.Ser583Phe, XP_047305444.1:p.Ser564Phe, XP_047305434.1:p.Ser598Phe

                                16.

                                rs1460512540 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  1:42181970 (GRCh38)
                                  1:42647641 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:42181969:GGGGG:GGGG
                                  Gene:
                                  FOXJ3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GGGG=0./0 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.42181974del, NC_000001.10:g.42647645del, NM_014947.5:c.1700del, NM_014947.4:c.1700del, XM_006710458.5:c.1655del, XM_006710458.4:c.1655del, XM_006710458.3:c.1655del, XM_006710458.2:c.1655del, XM_006710458.1:c.1655del, XM_005270632.5:c.1724del, XM_005270632.4:c.1724del, XM_005270632.3:c.1724del, XM_005270632.2:c.1724del, XM_005270632.1:c.1724del, XM_006710459.4:c.1622del, XM_006710459.3:c.1622del, XM_006710459.2:c.1622del, XM_006710459.1:c.1622del, XM_017000693.3:c.1553del, XM_017000693.2:c.1553del, XM_017000693.1:c.1553del, XM_024454163.2:c.1700del, XM_024454163.1:c.1700del, NM_001198851.2:c.1700del, NM_001198851.1:c.1700del, NM_001198850.2:c.1700del, NM_001198850.1:c.1700del, XM_017000694.2:c.1394del, XM_017000694.1:c.1394del, NM_001198852.2:c.1598del, NM_001198852.1:c.1598del, XM_047449471.1:c.1700del, XM_047449474.1:c.1700del, XM_047449489.1:c.1598del, XM_047449486.1:c.1655del, XM_047449488.1:c.1598del, XM_047449478.1:c.1700del, NP_055762.3:p.Pro567fs, XP_006710521.1:p.Pro552fs, XP_005270689.1:p.Pro575fs, XP_006710522.1:p.Pro541fs, XP_016856182.1:p.Pro518fs, XP_024309931.1:p.Pro567fs, NP_001185780.1:p.Pro567fs, NP_001185779.1:p.Pro567fs, XP_016856183.1:p.Pro465fs, NP_001185781.1:p.Pro533fs, XP_047305427.1:p.Pro567fs, XP_047305430.1:p.Pro567fs, XP_047305445.1:p.Pro533fs, XP_047305442.1:p.Pro552fs, XP_047305444.1:p.Pro533fs, XP_047305434.1:p.Pro567fs

                                  17.

                                  rs1458154501 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:42191427 (GRCh38)
                                    1:42657098 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:42191426:C:T
                                    Gene:
                                    FOXJ3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.42191427C>T, NC_000001.10:g.42657098C>T, NM_014947.5:c.1227G>A, NM_014947.4:c.1227G>A, XM_006710458.5:c.1182G>A, XM_006710458.4:c.1182G>A, XM_006710458.3:c.1182G>A, XM_006710458.2:c.1182G>A, XM_006710458.1:c.1182G>A, XM_005270632.5:c.1251G>A, XM_005270632.4:c.1251G>A, XM_005270632.3:c.1251G>A, XM_005270632.2:c.1251G>A, XM_005270632.1:c.1251G>A, XM_006710459.4:c.1149G>A, XM_006710459.3:c.1149G>A, XM_006710459.2:c.1149G>A, XM_006710459.1:c.1149G>A, XM_017000693.3:c.1080G>A, XM_017000693.2:c.1080G>A, XM_017000693.1:c.1080G>A, XM_024454163.2:c.1227G>A, XM_024454163.1:c.1227G>A, NM_001198851.2:c.1227G>A, NM_001198851.1:c.1227G>A, NM_001198850.2:c.1227G>A, NM_001198850.1:c.1227G>A, XM_017000694.2:c.921G>A, XM_017000694.1:c.921G>A, NM_001198852.2:c.1125G>A, NM_001198852.1:c.1125G>A, XM_047449471.1:c.1227G>A, XM_047449474.1:c.1227G>A, XM_047449489.1:c.1125G>A, XM_047449486.1:c.1182G>A, XM_047449488.1:c.1125G>A, XM_047449478.1:c.1227G>A

                                    18.

                                    rs1457684882 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:42194960 (GRCh38)
                                      1:42660631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:42194959:A:G
                                      Gene:
                                      FOXJ3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.42194960A>G, NC_000001.10:g.42660631A>G, NM_014947.5:c.864T>C, NM_014947.4:c.864T>C, XM_006710458.5:c.819T>C, XM_006710458.4:c.819T>C, XM_006710458.3:c.819T>C, XM_006710458.2:c.819T>C, XM_006710458.1:c.819T>C, XM_005270632.5:c.888T>C, XM_005270632.4:c.888T>C, XM_005270632.3:c.888T>C, XM_005270632.2:c.888T>C, XM_005270632.1:c.888T>C, XM_006710459.4:c.786T>C, XM_006710459.3:c.786T>C, XM_006710459.2:c.786T>C, XM_006710459.1:c.786T>C, XM_017000693.3:c.717T>C, XM_017000693.2:c.717T>C, XM_017000693.1:c.717T>C, XM_024454163.2:c.864T>C, XM_024454163.1:c.864T>C, NM_001198851.2:c.864T>C, NM_001198851.1:c.864T>C, NM_001198850.2:c.864T>C, NM_001198850.1:c.864T>C, XM_017000694.2:c.558T>C, XM_017000694.1:c.558T>C, NM_001198852.2:c.762T>C, NM_001198852.1:c.762T>C, XM_047449471.1:c.864T>C, XM_047449474.1:c.864T>C, XM_047449489.1:c.762T>C, XM_047449486.1:c.819T>C, XM_047449488.1:c.762T>C, XM_047449478.1:c.864T>C

                                      19.

                                      rs1455031856 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:42182016 (GRCh38)
                                        1:42647687 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:42182015:A:G
                                        Gene:
                                        FOXJ3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000031/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.42182016A>G, NC_000001.10:g.42647687A>G, NM_014947.5:c.1654T>C, NM_014947.4:c.1654T>C, XM_006710458.5:c.1609T>C, XM_006710458.4:c.1609T>C, XM_006710458.3:c.1609T>C, XM_006710458.2:c.1609T>C, XM_006710458.1:c.1609T>C, XM_005270632.5:c.1678T>C, XM_005270632.4:c.1678T>C, XM_005270632.3:c.1678T>C, XM_005270632.2:c.1678T>C, XM_005270632.1:c.1678T>C, XM_006710459.4:c.1576T>C, XM_006710459.3:c.1576T>C, XM_006710459.2:c.1576T>C, XM_006710459.1:c.1576T>C, XM_017000693.3:c.1507T>C, XM_017000693.2:c.1507T>C, XM_017000693.1:c.1507T>C, XM_024454163.2:c.1654T>C, XM_024454163.1:c.1654T>C, NM_001198851.2:c.1654T>C, NM_001198851.1:c.1654T>C, NM_001198850.2:c.1654T>C, NM_001198850.1:c.1654T>C, XM_017000694.2:c.1348T>C, XM_017000694.1:c.1348T>C, NM_001198852.2:c.1552T>C, NM_001198852.1:c.1552T>C, XM_047449471.1:c.1654T>C, XM_047449474.1:c.1654T>C, XM_047449489.1:c.1552T>C, XM_047449486.1:c.1609T>C, XM_047449488.1:c.1552T>C, XM_047449478.1:c.1654T>C, NP_055762.3:p.Tyr552His, XP_006710521.1:p.Tyr537His, XP_005270689.1:p.Tyr560His, XP_006710522.1:p.Tyr526His, XP_016856182.1:p.Tyr503His, XP_024309931.1:p.Tyr552His, NP_001185780.1:p.Tyr552His, NP_001185779.1:p.Tyr552His, XP_016856183.1:p.Tyr450His, NP_001185781.1:p.Tyr518His, XP_047305427.1:p.Tyr552His, XP_047305430.1:p.Tyr552His, XP_047305445.1:p.Tyr518His, XP_047305442.1:p.Tyr537His, XP_047305444.1:p.Tyr518His, XP_047305434.1:p.Tyr552His

                                        20.

                                        rs1453836399 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:42195011 (GRCh38)
                                          1:42660682 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:42195010:T:C
                                          Gene:
                                          FOXJ3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000224/1 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000001.11:g.42195011T>C, NC_000001.10:g.42660682T>C, NM_014947.5:c.813A>G, NM_014947.4:c.813A>G, XM_006710458.5:c.768A>G, XM_006710458.4:c.768A>G, XM_006710458.3:c.768A>G, XM_006710458.2:c.768A>G, XM_006710458.1:c.768A>G, XM_005270632.5:c.837A>G, XM_005270632.4:c.837A>G, XM_005270632.3:c.837A>G, XM_005270632.2:c.837A>G, XM_005270632.1:c.837A>G, XM_006710459.4:c.735A>G, XM_006710459.3:c.735A>G, XM_006710459.2:c.735A>G, XM_006710459.1:c.735A>G, XM_017000693.3:c.666A>G, XM_017000693.2:c.666A>G, XM_017000693.1:c.666A>G, XM_024454163.2:c.813A>G, XM_024454163.1:c.813A>G, NM_001198851.2:c.813A>G, NM_001198851.1:c.813A>G, NM_001198850.2:c.813A>G, NM_001198850.1:c.813A>G, XM_017000694.2:c.507A>G, XM_017000694.1:c.507A>G, NM_001198852.2:c.711A>G, NM_001198852.1:c.711A>G, XM_047449471.1:c.813A>G, XM_047449474.1:c.813A>G, XM_047449489.1:c.711A>G, XM_047449486.1:c.768A>G, XM_047449488.1:c.711A>G, XM_047449478.1:c.813A>G

                                          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...