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Items: 1 to 20 of 508

1.

rs1489135218 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:47235942 (GRCh38)
    12:47629725 (GRCh37)
    Canonical SPDI:
    NC_000012.12:47235941:C:T
    Gene:
    PCED1B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    HGVS:

    2.

    rs1488837671 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      12:47235996 (GRCh38)
      12:47629779 (GRCh37)
      Canonical SPDI:
      NC_000012.12:47235994:CGC:C
      Gene:
      PCED1B (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      -=0.000004/1 (GnomAD_exomes)
      -=0.000004/1 (TOPMED)
      -=0.000014/2 (GnomAD)
      HGVS:
      NC_000012.12:g.47235996_47235997del, NC_000012.11:g.47629779_47629780del, XM_005269224.6:c.933_934del, XM_005269224.5:c.933_934del, XM_005269224.4:c.933_934del, XM_005269224.3:c.933_934del, XM_005269224.2:c.933_934del, XM_005269224.1:c.933_934del, NM_138371.3:c.933_934del, NM_138371.2:c.933_934del, XM_011538978.3:c.933_934del, XM_011538978.2:c.933_934del, XM_011538978.1:c.933_934del, XM_017020207.2:c.933_934del, XM_017020207.1:c.933_934del, XM_017020209.2:c.933_934del, XM_017020209.1:c.933_934del, XM_017020216.2:c.933_934del, XM_017020216.1:c.933_934del, NM_001281429.2:c.933_934del, NM_001281429.1:c.933_934del, XM_047429873.1:c.933_934del, XM_047429870.1:c.933_934del, XM_047429868.1:c.933_934del, XM_047429872.1:c.933_934del, XM_047429869.1:c.933_934del, XM_047429874.1:c.933_934del, XM_047429875.1:c.933_934del, XM_047429876.1:c.933_934del, XM_047429871.1:c.933_934del, XP_005269281.1:p.Leu312fs, NP_612380.1:p.Leu312fs, XP_011537280.1:p.Leu312fs, XP_016875696.1:p.Leu312fs, XP_016875698.1:p.Leu312fs, XP_016875705.1:p.Leu312fs, NP_001268358.1:p.Leu312fs, XP_047285829.1:p.Leu312fs, XP_047285826.1:p.Leu312fs, XP_047285824.1:p.Leu312fs, XP_047285828.1:p.Leu312fs, XP_047285825.1:p.Leu312fs, XP_047285830.1:p.Leu312fs, XP_047285831.1:p.Leu312fs, XP_047285832.1:p.Leu312fs, XP_047285827.1:p.Leu312fs

      3.

      rs1487158155 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:47235353 (GRCh38)
        12:47629136 (GRCh37)
        Canonical SPDI:
        NC_000012.12:47235352:T:C
        Gene:
        PCED1B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0./0 (GnomAD)
        C=0.000004/1 (TOPMED)
        C=0.000012/3 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.47235353T>C, NC_000012.11:g.47629136T>C, XM_005269224.6:c.290T>C, XM_005269224.5:c.290T>C, XM_005269224.4:c.290T>C, XM_005269224.3:c.290T>C, XM_005269224.2:c.290T>C, XM_005269224.1:c.290T>C, NM_138371.3:c.290T>C, NM_138371.2:c.290T>C, XM_011538978.3:c.290T>C, XM_011538978.2:c.290T>C, XM_011538978.1:c.290T>C, XM_017020207.2:c.290T>C, XM_017020207.1:c.290T>C, XM_017020209.2:c.290T>C, XM_017020209.1:c.290T>C, XM_017020216.2:c.290T>C, XM_017020216.1:c.290T>C, NM_001281429.2:c.290T>C, NM_001281429.1:c.290T>C, XM_047429873.1:c.290T>C, XM_047429870.1:c.290T>C, XM_047429868.1:c.290T>C, XM_047429872.1:c.290T>C, XM_047429869.1:c.290T>C, XM_047429874.1:c.290T>C, XM_047429875.1:c.290T>C, XM_047429876.1:c.290T>C, XM_047429871.1:c.290T>C, XP_005269281.1:p.Val97Ala, NP_612380.1:p.Val97Ala, XP_011537280.1:p.Val97Ala, XP_016875696.1:p.Val97Ala, XP_016875698.1:p.Val97Ala, XP_016875705.1:p.Val97Ala, NP_001268358.1:p.Val97Ala, XP_047285829.1:p.Val97Ala, XP_047285826.1:p.Val97Ala, XP_047285824.1:p.Val97Ala, XP_047285828.1:p.Val97Ala, XP_047285825.1:p.Val97Ala, XP_047285830.1:p.Val97Ala, XP_047285831.1:p.Val97Ala, XP_047285832.1:p.Val97Ala, XP_047285827.1:p.Val97Ala

        4.

        rs1484588209 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:47235212 (GRCh38)
          12:47628995 (GRCh37)
          Canonical SPDI:
          NC_000012.12:47235211:C:T
          Gene:
          PCED1B (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000012.12:g.47235212C>T, NC_000012.11:g.47628995C>T, XM_005269224.6:c.149C>T, XM_005269224.5:c.149C>T, XM_005269224.4:c.149C>T, XM_005269224.3:c.149C>T, XM_005269224.2:c.149C>T, XM_005269224.1:c.149C>T, NM_138371.3:c.149C>T, NM_138371.2:c.149C>T, XM_011538978.3:c.149C>T, XM_011538978.2:c.149C>T, XM_011538978.1:c.149C>T, XM_017020207.2:c.149C>T, XM_017020207.1:c.149C>T, XM_017020209.2:c.149C>T, XM_017020209.1:c.149C>T, XM_017020216.2:c.149C>T, XM_017020216.1:c.149C>T, NM_001281429.2:c.149C>T, NM_001281429.1:c.149C>T, XM_047429873.1:c.149C>T, XM_047429870.1:c.149C>T, XM_047429868.1:c.149C>T, XM_047429872.1:c.149C>T, XM_047429869.1:c.149C>T, XM_047429874.1:c.149C>T, XM_047429875.1:c.149C>T, XM_047429876.1:c.149C>T, XM_047429871.1:c.149C>T, XP_005269281.1:p.Ala50Val, NP_612380.1:p.Ala50Val, XP_011537280.1:p.Ala50Val, XP_016875696.1:p.Ala50Val, XP_016875698.1:p.Ala50Val, XP_016875705.1:p.Ala50Val, NP_001268358.1:p.Ala50Val, XP_047285829.1:p.Ala50Val, XP_047285826.1:p.Ala50Val, XP_047285824.1:p.Ala50Val, XP_047285828.1:p.Ala50Val, XP_047285825.1:p.Ala50Val, XP_047285830.1:p.Ala50Val, XP_047285831.1:p.Ala50Val, XP_047285832.1:p.Ala50Val, XP_047285827.1:p.Ala50Val

          5.

          rs1478518659 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:47235696 (GRCh38)
            12:47629479 (GRCh37)
            Canonical SPDI:
            NC_000012.12:47235695:A:G
            Gene:
            PCED1B (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)
            HGVS:

            6.

            rs1476109425 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              12:47235082 (GRCh38)
              12:47628865 (GRCh37)
              Canonical SPDI:
              NC_000012.12:47235081:T:A
              Gene:
              PCED1B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_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_000012.12:g.47235082T>A, NC_000012.11:g.47628865T>A, XM_005269224.6:c.19T>A, XM_005269224.5:c.19T>A, XM_005269224.4:c.19T>A, XM_005269224.3:c.19T>A, XM_005269224.2:c.19T>A, XM_005269224.1:c.19T>A, NM_138371.3:c.19T>A, NM_138371.2:c.19T>A, XM_011538978.3:c.19T>A, XM_011538978.2:c.19T>A, XM_011538978.1:c.19T>A, XM_017020207.2:c.19T>A, XM_017020207.1:c.19T>A, XM_017020209.2:c.19T>A, XM_017020209.1:c.19T>A, XM_017020216.2:c.19T>A, XM_017020216.1:c.19T>A, NM_001281429.2:c.19T>A, NM_001281429.1:c.19T>A, XM_047429873.1:c.19T>A, XM_047429870.1:c.19T>A, XM_047429868.1:c.19T>A, XM_047429872.1:c.19T>A, XM_047429869.1:c.19T>A, XM_047429874.1:c.19T>A, XM_047429875.1:c.19T>A, XM_047429876.1:c.19T>A, XM_047429871.1:c.19T>A, XP_005269281.1:p.Ser7Thr, NP_612380.1:p.Ser7Thr, XP_011537280.1:p.Ser7Thr, XP_016875696.1:p.Ser7Thr, XP_016875698.1:p.Ser7Thr, XP_016875705.1:p.Ser7Thr, NP_001268358.1:p.Ser7Thr, XP_047285829.1:p.Ser7Thr, XP_047285826.1:p.Ser7Thr, XP_047285824.1:p.Ser7Thr, XP_047285828.1:p.Ser7Thr, XP_047285825.1:p.Ser7Thr, XP_047285830.1:p.Ser7Thr, XP_047285831.1:p.Ser7Thr, XP_047285832.1:p.Ser7Thr, XP_047285827.1:p.Ser7Thr

              7.

              rs1474366751 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                12:47235878 (GRCh38)
                12:47629661 (GRCh37)
                Canonical SPDI:
                NC_000012.12:47235877:G:A,NC_000012.12:47235877:G:T
                Gene:
                PCED1B (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000005/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.47235878G>A, NC_000012.12:g.47235878G>T, NC_000012.11:g.47629661G>A, NC_000012.11:g.47629661G>T, XM_005269224.6:c.815G>A, XM_005269224.6:c.815G>T, XM_005269224.5:c.815G>A, XM_005269224.5:c.815G>T, XM_005269224.4:c.815G>A, XM_005269224.4:c.815G>T, XM_005269224.3:c.815G>A, XM_005269224.3:c.815G>T, XM_005269224.2:c.815G>A, XM_005269224.2:c.815G>T, XM_005269224.1:c.815G>A, XM_005269224.1:c.815G>T, NM_138371.3:c.815G>A, NM_138371.3:c.815G>T, NM_138371.2:c.815G>A, NM_138371.2:c.815G>T, XM_011538978.3:c.815G>A, XM_011538978.3:c.815G>T, XM_011538978.2:c.815G>A, XM_011538978.2:c.815G>T, XM_011538978.1:c.815G>A, XM_011538978.1:c.815G>T, XM_017020207.2:c.815G>A, XM_017020207.2:c.815G>T, XM_017020207.1:c.815G>A, XM_017020207.1:c.815G>T, XM_017020209.2:c.815G>A, XM_017020209.2:c.815G>T, XM_017020209.1:c.815G>A, XM_017020209.1:c.815G>T, XM_017020216.2:c.815G>A, XM_017020216.2:c.815G>T, XM_017020216.1:c.815G>A, XM_017020216.1:c.815G>T, NM_001281429.2:c.815G>A, NM_001281429.2:c.815G>T, NM_001281429.1:c.815G>A, NM_001281429.1:c.815G>T, XM_047429873.1:c.815G>A, XM_047429873.1:c.815G>T, XM_047429870.1:c.815G>A, XM_047429870.1:c.815G>T, XM_047429868.1:c.815G>A, XM_047429868.1:c.815G>T, XM_047429872.1:c.815G>A, XM_047429872.1:c.815G>T, XM_047429869.1:c.815G>A, XM_047429869.1:c.815G>T, XM_047429874.1:c.815G>A, XM_047429874.1:c.815G>T, XM_047429875.1:c.815G>A, XM_047429875.1:c.815G>T, XM_047429876.1:c.815G>A, XM_047429876.1:c.815G>T, XM_047429871.1:c.815G>A, XM_047429871.1:c.815G>T, XP_005269281.1:p.Gly272Asp, XP_005269281.1:p.Gly272Val, NP_612380.1:p.Gly272Asp, NP_612380.1:p.Gly272Val, XP_011537280.1:p.Gly272Asp, XP_011537280.1:p.Gly272Val, XP_016875696.1:p.Gly272Asp, XP_016875696.1:p.Gly272Val, XP_016875698.1:p.Gly272Asp, XP_016875698.1:p.Gly272Val, XP_016875705.1:p.Gly272Asp, XP_016875705.1:p.Gly272Val, NP_001268358.1:p.Gly272Asp, NP_001268358.1:p.Gly272Val, XP_047285829.1:p.Gly272Asp, XP_047285829.1:p.Gly272Val, XP_047285826.1:p.Gly272Asp, XP_047285826.1:p.Gly272Val, XP_047285824.1:p.Gly272Asp, XP_047285824.1:p.Gly272Val, XP_047285828.1:p.Gly272Asp, XP_047285828.1:p.Gly272Val, XP_047285825.1:p.Gly272Asp, XP_047285825.1:p.Gly272Val, XP_047285830.1:p.Gly272Asp, XP_047285830.1:p.Gly272Val, XP_047285831.1:p.Gly272Asp, XP_047285831.1:p.Gly272Val, XP_047285832.1:p.Gly272Asp, XP_047285832.1:p.Gly272Val, XP_047285827.1:p.Gly272Asp, XP_047285827.1:p.Gly272Val

                8.

                rs1472664215 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:47235520 (GRCh38)
                  12:47629303 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:47235519:G:A
                  Gene:
                  PCED1B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000012.12:g.47235520G>A, NC_000012.11:g.47629303G>A, XM_005269224.6:c.457G>A, XM_005269224.5:c.457G>A, XM_005269224.4:c.457G>A, XM_005269224.3:c.457G>A, XM_005269224.2:c.457G>A, XM_005269224.1:c.457G>A, NM_138371.3:c.457G>A, NM_138371.2:c.457G>A, XM_011538978.3:c.457G>A, XM_011538978.2:c.457G>A, XM_011538978.1:c.457G>A, XM_017020207.2:c.457G>A, XM_017020207.1:c.457G>A, XM_017020209.2:c.457G>A, XM_017020209.1:c.457G>A, XM_017020216.2:c.457G>A, XM_017020216.1:c.457G>A, NM_001281429.2:c.457G>A, NM_001281429.1:c.457G>A, XM_047429873.1:c.457G>A, XM_047429870.1:c.457G>A, XM_047429868.1:c.457G>A, XM_047429872.1:c.457G>A, XM_047429869.1:c.457G>A, XM_047429874.1:c.457G>A, XM_047429875.1:c.457G>A, XM_047429876.1:c.457G>A, XM_047429871.1:c.457G>A, XP_005269281.1:p.Val153Met, NP_612380.1:p.Val153Met, XP_011537280.1:p.Val153Met, XP_016875696.1:p.Val153Met, XP_016875698.1:p.Val153Met, XP_016875705.1:p.Val153Met, NP_001268358.1:p.Val153Met, XP_047285829.1:p.Val153Met, XP_047285826.1:p.Val153Met, XP_047285824.1:p.Val153Met, XP_047285828.1:p.Val153Met, XP_047285825.1:p.Val153Met, XP_047285830.1:p.Val153Met, XP_047285831.1:p.Val153Met, XP_047285832.1:p.Val153Met, XP_047285827.1:p.Val153Met

                  9.

                  rs1471461016 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CGC>- [Show Flanks]
                    Chromosome:
                    12:47235995 (GRCh38)
                    12:47629778 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:47235992:GCCGC:GC
                    Gene:
                    PCED1B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,inframe_deletion
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GC=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.47235995_47235997del, NC_000012.11:g.47629778_47629780del, XM_005269224.6:c.932_934del, XM_005269224.5:c.932_934del, XM_005269224.4:c.932_934del, XM_005269224.3:c.932_934del, XM_005269224.2:c.932_934del, XM_005269224.1:c.932_934del, NM_138371.3:c.932_934del, NM_138371.2:c.932_934del, XM_011538978.3:c.932_934del, XM_011538978.2:c.932_934del, XM_011538978.1:c.932_934del, XM_017020207.2:c.932_934del, XM_017020207.1:c.932_934del, XM_017020209.2:c.932_934del, XM_017020209.1:c.932_934del, XM_017020216.2:c.932_934del, XM_017020216.1:c.932_934del, NM_001281429.2:c.932_934del, NM_001281429.1:c.932_934del, XM_047429873.1:c.932_934del, XM_047429870.1:c.932_934del, XM_047429868.1:c.932_934del, XM_047429872.1:c.932_934del, XM_047429869.1:c.932_934del, XM_047429874.1:c.932_934del, XM_047429875.1:c.932_934del, XM_047429876.1:c.932_934del, XM_047429871.1:c.932_934del, XP_005269281.1:p.Pro311del, NP_612380.1:p.Pro311del, XP_011537280.1:p.Pro311del, XP_016875696.1:p.Pro311del, XP_016875698.1:p.Pro311del, XP_016875705.1:p.Pro311del, NP_001268358.1:p.Pro311del, XP_047285829.1:p.Pro311del, XP_047285826.1:p.Pro311del, XP_047285824.1:p.Pro311del, XP_047285828.1:p.Pro311del, XP_047285825.1:p.Pro311del, XP_047285830.1:p.Pro311del, XP_047285831.1:p.Pro311del, XP_047285832.1:p.Pro311del, XP_047285827.1:p.Pro311del

                    10.

                    rs1469591298 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:47235120 (GRCh38)
                      12:47628903 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:47235119:C:T
                      Gene:
                      PCED1B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000021/3 (GnomAD)
                      T=0.000023/6 (TOPMED)
                      HGVS:

                      11.

                      rs1467257288 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        12:47235954 (GRCh38)
                        12:47629737 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:47235953:C:A,NC_000012.12:47235953:C:G
                        Gene:
                        PCED1B (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.47235954C>A, NC_000012.12:g.47235954C>G, NC_000012.11:g.47629737C>A, NC_000012.11:g.47629737C>G, XM_005269224.6:c.891C>A, XM_005269224.6:c.891C>G, XM_005269224.5:c.891C>A, XM_005269224.5:c.891C>G, XM_005269224.4:c.891C>A, XM_005269224.4:c.891C>G, XM_005269224.3:c.891C>A, XM_005269224.3:c.891C>G, XM_005269224.2:c.891C>A, XM_005269224.2:c.891C>G, XM_005269224.1:c.891C>A, XM_005269224.1:c.891C>G, NM_138371.3:c.891C>A, NM_138371.3:c.891C>G, NM_138371.2:c.891C>A, NM_138371.2:c.891C>G, XM_011538978.3:c.891C>A, XM_011538978.3:c.891C>G, XM_011538978.2:c.891C>A, XM_011538978.2:c.891C>G, XM_011538978.1:c.891C>A, XM_011538978.1:c.891C>G, XM_017020207.2:c.891C>A, XM_017020207.2:c.891C>G, XM_017020207.1:c.891C>A, XM_017020207.1:c.891C>G, XM_017020209.2:c.891C>A, XM_017020209.2:c.891C>G, XM_017020209.1:c.891C>A, XM_017020209.1:c.891C>G, XM_017020216.2:c.891C>A, XM_017020216.2:c.891C>G, XM_017020216.1:c.891C>A, XM_017020216.1:c.891C>G, NM_001281429.2:c.891C>A, NM_001281429.2:c.891C>G, NM_001281429.1:c.891C>A, NM_001281429.1:c.891C>G, XM_047429873.1:c.891C>A, XM_047429873.1:c.891C>G, XM_047429870.1:c.891C>A, XM_047429870.1:c.891C>G, XM_047429868.1:c.891C>A, XM_047429868.1:c.891C>G, XM_047429872.1:c.891C>A, XM_047429872.1:c.891C>G, XM_047429869.1:c.891C>A, XM_047429869.1:c.891C>G, XM_047429874.1:c.891C>A, XM_047429874.1:c.891C>G, XM_047429875.1:c.891C>A, XM_047429875.1:c.891C>G, XM_047429876.1:c.891C>A, XM_047429876.1:c.891C>G, XM_047429871.1:c.891C>A, XM_047429871.1:c.891C>G

                        12.

                        rs1465581052 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:47235816 (GRCh38)
                          12:47629599 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:47235815:C:T
                          Gene:
                          PCED1B (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          HGVS:

                          13.

                          rs1461715979 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            12:47235214 (GRCh38)
                            12:47628998 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:47235214:GGGGGG:GGGGGGG
                            Gene:
                            PCED1B (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGGGGG=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000012.12:g.47235220dup, NC_000012.11:g.47629003dup, XM_005269224.6:c.157dup, XM_005269224.5:c.157dup, XM_005269224.4:c.157dup, XM_005269224.3:c.157dup, XM_005269224.2:c.157dup, XM_005269224.1:c.157dup, NM_138371.3:c.157dup, NM_138371.2:c.157dup, XM_011538978.3:c.157dup, XM_011538978.2:c.157dup, XM_011538978.1:c.157dup, XM_017020207.2:c.157dup, XM_017020207.1:c.157dup, XM_017020209.2:c.157dup, XM_017020209.1:c.157dup, XM_017020216.2:c.157dup, XM_017020216.1:c.157dup, NM_001281429.2:c.157dup, NM_001281429.1:c.157dup, XM_047429873.1:c.157dup, XM_047429870.1:c.157dup, XM_047429868.1:c.157dup, XM_047429872.1:c.157dup, XM_047429869.1:c.157dup, XM_047429874.1:c.157dup, XM_047429875.1:c.157dup, XM_047429876.1:c.157dup, XM_047429871.1:c.157dup, XP_005269281.1:p.Glu53fs, NP_612380.1:p.Glu53fs, XP_011537280.1:p.Glu53fs, XP_016875696.1:p.Glu53fs, XP_016875698.1:p.Glu53fs, XP_016875705.1:p.Glu53fs, NP_001268358.1:p.Glu53fs, XP_047285829.1:p.Glu53fs, XP_047285826.1:p.Glu53fs, XP_047285824.1:p.Glu53fs, XP_047285828.1:p.Glu53fs, XP_047285825.1:p.Glu53fs, XP_047285830.1:p.Glu53fs, XP_047285831.1:p.Glu53fs, XP_047285832.1:p.Glu53fs, XP_047285827.1:p.Glu53fs

                            14.

                            rs1460019218 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              12:47235811 (GRCh38)
                              12:47629594 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:47235810:G:A
                              Gene:
                              PCED1B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000012.12:g.47235811G>A, NC_000012.11:g.47629594G>A, XM_005269224.6:c.748G>A, XM_005269224.5:c.748G>A, XM_005269224.4:c.748G>A, XM_005269224.3:c.748G>A, XM_005269224.2:c.748G>A, XM_005269224.1:c.748G>A, NM_138371.3:c.748G>A, NM_138371.2:c.748G>A, XM_011538978.3:c.748G>A, XM_011538978.2:c.748G>A, XM_011538978.1:c.748G>A, XM_017020207.2:c.748G>A, XM_017020207.1:c.748G>A, XM_017020209.2:c.748G>A, XM_017020209.1:c.748G>A, XM_017020216.2:c.748G>A, XM_017020216.1:c.748G>A, NM_001281429.2:c.748G>A, NM_001281429.1:c.748G>A, XM_047429873.1:c.748G>A, XM_047429870.1:c.748G>A, XM_047429868.1:c.748G>A, XM_047429872.1:c.748G>A, XM_047429869.1:c.748G>A, XM_047429874.1:c.748G>A, XM_047429875.1:c.748G>A, XM_047429876.1:c.748G>A, XM_047429871.1:c.748G>A, XP_005269281.1:p.Asp250Asn, NP_612380.1:p.Asp250Asn, XP_011537280.1:p.Asp250Asn, XP_016875696.1:p.Asp250Asn, XP_016875698.1:p.Asp250Asn, XP_016875705.1:p.Asp250Asn, NP_001268358.1:p.Asp250Asn, XP_047285829.1:p.Asp250Asn, XP_047285826.1:p.Asp250Asn, XP_047285824.1:p.Asp250Asn, XP_047285828.1:p.Asp250Asn, XP_047285825.1:p.Asp250Asn, XP_047285830.1:p.Asp250Asn, XP_047285831.1:p.Asp250Asn, XP_047285832.1:p.Asp250Asn, XP_047285827.1:p.Asp250Asn

                              15.

                              rs1459903657 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:47236025 (GRCh38)
                                12:47629808 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:47236024:C:T
                                Gene:
                                PCED1B (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_000012.12:g.47236025C>T, NC_000012.11:g.47629808C>T, XM_005269224.6:c.962C>T, XM_005269224.5:c.962C>T, XM_005269224.4:c.962C>T, XM_005269224.3:c.962C>T, XM_005269224.2:c.962C>T, XM_005269224.1:c.962C>T, NM_138371.3:c.962C>T, NM_138371.2:c.962C>T, XM_011538978.3:c.962C>T, XM_011538978.2:c.962C>T, XM_011538978.1:c.962C>T, XM_017020207.2:c.962C>T, XM_017020207.1:c.962C>T, XM_017020209.2:c.962C>T, XM_017020209.1:c.962C>T, XM_017020216.2:c.962C>T, XM_017020216.1:c.962C>T, NM_001281429.2:c.962C>T, NM_001281429.1:c.962C>T, XM_047429873.1:c.962C>T, XM_047429870.1:c.962C>T, XM_047429868.1:c.962C>T, XM_047429872.1:c.962C>T, XM_047429869.1:c.962C>T, XM_047429874.1:c.962C>T, XM_047429875.1:c.962C>T, XM_047429876.1:c.962C>T, XM_047429871.1:c.962C>T, XP_005269281.1:p.Pro321Leu, NP_612380.1:p.Pro321Leu, XP_011537280.1:p.Pro321Leu, XP_016875696.1:p.Pro321Leu, XP_016875698.1:p.Pro321Leu, XP_016875705.1:p.Pro321Leu, NP_001268358.1:p.Pro321Leu, XP_047285829.1:p.Pro321Leu, XP_047285826.1:p.Pro321Leu, XP_047285824.1:p.Pro321Leu, XP_047285828.1:p.Pro321Leu, XP_047285825.1:p.Pro321Leu, XP_047285830.1:p.Pro321Leu, XP_047285831.1:p.Pro321Leu, XP_047285832.1:p.Pro321Leu, XP_047285827.1:p.Pro321Leu

                                16.

                                rs1459128652 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:47235419 (GRCh38)
                                  12:47629202 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:47235418:T:C
                                  Gene:
                                  PCED1B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000012.12:g.47235419T>C, NC_000012.11:g.47629202T>C, XM_005269224.6:c.356T>C, XM_005269224.5:c.356T>C, XM_005269224.4:c.356T>C, XM_005269224.3:c.356T>C, XM_005269224.2:c.356T>C, XM_005269224.1:c.356T>C, NM_138371.3:c.356T>C, NM_138371.2:c.356T>C, XM_011538978.3:c.356T>C, XM_011538978.2:c.356T>C, XM_011538978.1:c.356T>C, XM_017020207.2:c.356T>C, XM_017020207.1:c.356T>C, XM_017020209.2:c.356T>C, XM_017020209.1:c.356T>C, XM_017020216.2:c.356T>C, XM_017020216.1:c.356T>C, NM_001281429.2:c.356T>C, NM_001281429.1:c.356T>C, XM_047429873.1:c.356T>C, XM_047429870.1:c.356T>C, XM_047429868.1:c.356T>C, XM_047429872.1:c.356T>C, XM_047429869.1:c.356T>C, XM_047429874.1:c.356T>C, XM_047429875.1:c.356T>C, XM_047429876.1:c.356T>C, XM_047429871.1:c.356T>C, XP_005269281.1:p.Val119Ala, NP_612380.1:p.Val119Ala, XP_011537280.1:p.Val119Ala, XP_016875696.1:p.Val119Ala, XP_016875698.1:p.Val119Ala, XP_016875705.1:p.Val119Ala, NP_001268358.1:p.Val119Ala, XP_047285829.1:p.Val119Ala, XP_047285826.1:p.Val119Ala, XP_047285824.1:p.Val119Ala, XP_047285828.1:p.Val119Ala, XP_047285825.1:p.Val119Ala, XP_047285830.1:p.Val119Ala, XP_047285831.1:p.Val119Ala, XP_047285832.1:p.Val119Ala, XP_047285827.1:p.Val119Ala

                                  17.

                                  rs1457268389 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    12:47235791 (GRCh38)
                                    12:47629574 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:47235790:T:G
                                    Gene:
                                    PCED1B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000012.12:g.47235791T>G, NC_000012.11:g.47629574T>G, XM_005269224.6:c.728T>G, XM_005269224.5:c.728T>G, XM_005269224.4:c.728T>G, XM_005269224.3:c.728T>G, XM_005269224.2:c.728T>G, XM_005269224.1:c.728T>G, NM_138371.3:c.728T>G, NM_138371.2:c.728T>G, XM_011538978.3:c.728T>G, XM_011538978.2:c.728T>G, XM_011538978.1:c.728T>G, XM_017020207.2:c.728T>G, XM_017020207.1:c.728T>G, XM_017020209.2:c.728T>G, XM_017020209.1:c.728T>G, XM_017020216.2:c.728T>G, XM_017020216.1:c.728T>G, NM_001281429.2:c.728T>G, NM_001281429.1:c.728T>G, XM_047429873.1:c.728T>G, XM_047429870.1:c.728T>G, XM_047429868.1:c.728T>G, XM_047429872.1:c.728T>G, XM_047429869.1:c.728T>G, XM_047429874.1:c.728T>G, XM_047429875.1:c.728T>G, XM_047429876.1:c.728T>G, XM_047429871.1:c.728T>G, XP_005269281.1:p.Leu243Arg, NP_612380.1:p.Leu243Arg, XP_011537280.1:p.Leu243Arg, XP_016875696.1:p.Leu243Arg, XP_016875698.1:p.Leu243Arg, XP_016875705.1:p.Leu243Arg, NP_001268358.1:p.Leu243Arg, XP_047285829.1:p.Leu243Arg, XP_047285826.1:p.Leu243Arg, XP_047285824.1:p.Leu243Arg, XP_047285828.1:p.Leu243Arg, XP_047285825.1:p.Leu243Arg, XP_047285830.1:p.Leu243Arg, XP_047285831.1:p.Leu243Arg, XP_047285832.1:p.Leu243Arg, XP_047285827.1:p.Leu243Arg

                                    18.

                                    rs1455868855 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:47235186 (GRCh38)
                                      12:47628969 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:47235185:C:T
                                      Gene:
                                      PCED1B (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1454443460 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:47235470 (GRCh38)
                                        12:47629253 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:47235469:G:A
                                        Gene:
                                        PCED1B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,stop_gained
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000012.12:g.47235470G>A, NC_000012.11:g.47629253G>A, XM_005269224.6:c.407G>A, XM_005269224.5:c.407G>A, XM_005269224.4:c.407G>A, XM_005269224.3:c.407G>A, XM_005269224.2:c.407G>A, XM_005269224.1:c.407G>A, NM_138371.3:c.407G>A, NM_138371.2:c.407G>A, XM_011538978.3:c.407G>A, XM_011538978.2:c.407G>A, XM_011538978.1:c.407G>A, XM_017020207.2:c.407G>A, XM_017020207.1:c.407G>A, XM_017020209.2:c.407G>A, XM_017020209.1:c.407G>A, XM_017020216.2:c.407G>A, XM_017020216.1:c.407G>A, NM_001281429.2:c.407G>A, NM_001281429.1:c.407G>A, XM_047429873.1:c.407G>A, XM_047429870.1:c.407G>A, XM_047429868.1:c.407G>A, XM_047429872.1:c.407G>A, XM_047429869.1:c.407G>A, XM_047429874.1:c.407G>A, XM_047429875.1:c.407G>A, XM_047429876.1:c.407G>A, XM_047429871.1:c.407G>A, XP_005269281.1:p.Trp136Ter, NP_612380.1:p.Trp136Ter, XP_011537280.1:p.Trp136Ter, XP_016875696.1:p.Trp136Ter, XP_016875698.1:p.Trp136Ter, XP_016875705.1:p.Trp136Ter, NP_001268358.1:p.Trp136Ter, XP_047285829.1:p.Trp136Ter, XP_047285826.1:p.Trp136Ter, XP_047285824.1:p.Trp136Ter, XP_047285828.1:p.Trp136Ter, XP_047285825.1:p.Trp136Ter, XP_047285830.1:p.Trp136Ter, XP_047285831.1:p.Trp136Ter, XP_047285832.1:p.Trp136Ter, XP_047285827.1:p.Trp136Ter

                                        20.

                                        rs1454381820 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          12:47235266 (GRCh38)
                                          12:47629049 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:47235265:G:T
                                          Gene:
                                          PCED1B (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_000012.12:g.47235266G>T, NC_000012.11:g.47629049G>T, XM_005269224.6:c.203G>T, XM_005269224.5:c.203G>T, XM_005269224.4:c.203G>T, XM_005269224.3:c.203G>T, XM_005269224.2:c.203G>T, XM_005269224.1:c.203G>T, NM_138371.3:c.203G>T, NM_138371.2:c.203G>T, XM_011538978.3:c.203G>T, XM_011538978.2:c.203G>T, XM_011538978.1:c.203G>T, XM_017020207.2:c.203G>T, XM_017020207.1:c.203G>T, XM_017020209.2:c.203G>T, XM_017020209.1:c.203G>T, XM_017020216.2:c.203G>T, XM_017020216.1:c.203G>T, NM_001281429.2:c.203G>T, NM_001281429.1:c.203G>T, XM_047429873.1:c.203G>T, XM_047429870.1:c.203G>T, XM_047429868.1:c.203G>T, XM_047429872.1:c.203G>T, XM_047429869.1:c.203G>T, XM_047429874.1:c.203G>T, XM_047429875.1:c.203G>T, XM_047429876.1:c.203G>T, XM_047429871.1:c.203G>T, XP_005269281.1:p.Gly68Val, NP_612380.1:p.Gly68Val, XP_011537280.1:p.Gly68Val, XP_016875696.1:p.Gly68Val, XP_016875698.1:p.Gly68Val, XP_016875705.1:p.Gly68Val, NP_001268358.1:p.Gly68Val, XP_047285829.1:p.Gly68Val, XP_047285826.1:p.Gly68Val, XP_047285824.1:p.Gly68Val, XP_047285828.1:p.Gly68Val, XP_047285825.1:p.Gly68Val, XP_047285830.1:p.Gly68Val, XP_047285831.1:p.Gly68Val, XP_047285832.1:p.Gly68Val, XP_047285827.1:p.Gly68Val

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