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Links from Protein

Items: 1 to 20 of 691

1.

rs1490496379 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GAGT>- [Show Flanks]
    Chromosome:
    10:42594416 (GRCh38)
    10:43089864 (GRCh37)
    Canonical SPDI:
    NC_000010.11:42594414:TGAGT:T
    Gene:
    ZNF33B (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000010.11:g.42594416_42594419del, NC_000010.10:g.43089864_43089867del, NM_006955.3:c.532_535del, NM_006955.2:c.532_535del, NM_006955.1:c.532_535del, NM_001305040.2:c.196_199del, NM_001305040.1:c.196_199del, NM_001305039.2:c.196_199del, NM_001305039.1:c.196_199del, NM_001305035.2:c.196_199del, NM_001305035.1:c.196_199del, NM_001305038.2:c.196_199del, NM_001305038.1:c.196_199del, NM_001305036.2:c.196_199del, NM_001305036.1:c.196_199del, NM_001305033.2:c.553_556del, NM_001305033.1:c.553_556del, NM_001305037.2:c.196_199del, NM_001305037.1:c.196_199del, XM_047425719.1:c.529_532del, XM_047425718.1:c.550_553del, NP_008886.1:p.Leu178fs, NP_001291969.1:p.Leu66fs, NP_001291968.1:p.Leu66fs, NP_001291964.1:p.Leu66fs, NP_001291967.1:p.Leu66fs, NP_001291965.1:p.Leu66fs, NP_001291962.1:p.Leu185fs, NP_001291966.1:p.Leu66fs, XP_047281675.1:p.Leu177fs, XP_047281674.1:p.Leu184fs

    2.

    rs1487891646 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      10:42593620 (GRCh38)
      10:43089068 (GRCh37)
      Canonical SPDI:
      NC_000010.11:42593619:A:C
      Gene:
      ZNF33B (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000028/1 (ALFA)
      C=0.000012/3 (GnomAD_exomes)
      C=0.000019/5 (TOPMED)
      C=0.000029/4 (GnomAD)
      HGVS:
      NC_000010.11:g.42593620A>C, NC_000010.10:g.43089068A>C, NM_006955.3:c.1330T>G, NM_006955.2:c.1330T>G, NM_006955.1:c.1330T>G, NM_001305040.2:c.994T>G, NM_001305040.1:c.994T>G, NM_001305039.2:c.994T>G, NM_001305039.1:c.994T>G, NM_001305035.2:c.994T>G, NM_001305035.1:c.994T>G, NM_001305038.2:c.994T>G, NM_001305038.1:c.994T>G, NM_001305036.2:c.994T>G, NM_001305036.1:c.994T>G, NM_001305033.2:c.1351T>G, NM_001305033.1:c.1351T>G, NM_001305037.2:c.994T>G, NM_001305037.1:c.994T>G, XM_047425719.1:c.1327T>G, XM_047425718.1:c.1348T>G, NP_008886.1:p.Tyr444Asp, NP_001291969.1:p.Tyr332Asp, NP_001291968.1:p.Tyr332Asp, NP_001291964.1:p.Tyr332Asp, NP_001291967.1:p.Tyr332Asp, NP_001291965.1:p.Tyr332Asp, NP_001291962.1:p.Tyr451Asp, NP_001291966.1:p.Tyr332Asp, XP_047281675.1:p.Tyr443Asp, XP_047281674.1:p.Tyr450Asp

      3.

      rs1487360476 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GT [Show Flanks]
        Chromosome:
        10:42594497 (GRCh38)
        10:43089946 (GRCh37)
        Canonical SPDI:
        NC_000010.11:42594497:GTGT:GTGTGT
        Gene:
        ZNF33B (Varview)
        Functional Consequence:
        coding_sequence_variant,frameshift_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GTGTGT=0./0 (ALFA)
        GT=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.42594498GT[3], NC_000010.10:g.43089946GT[3], NM_006955.3:c.451_452dup, NM_006955.2:c.451_452dup, NM_006955.1:c.451_452dup, NM_001305040.2:c.115_116dup, NM_001305040.1:c.115_116dup, NM_001305039.2:c.115_116dup, NM_001305039.1:c.115_116dup, NM_001305035.2:c.115_116dup, NM_001305035.1:c.115_116dup, NM_001305038.2:c.115_116dup, NM_001305038.1:c.115_116dup, NM_001305036.2:c.115_116dup, NM_001305036.1:c.115_116dup, NM_001305033.2:c.472_473dup, NM_001305033.1:c.472_473dup, NM_001305037.2:c.115_116dup, NM_001305037.1:c.115_116dup, XM_047425719.1:c.448_449dup, XM_047425718.1:c.469_470dup, NP_008886.1:p.Val152fs, NP_001291969.1:p.Val40fs, NP_001291968.1:p.Val40fs, NP_001291964.1:p.Val40fs, NP_001291967.1:p.Val40fs, NP_001291965.1:p.Val40fs, NP_001291962.1:p.Val159fs, NP_001291966.1:p.Val40fs, XP_047281675.1:p.Val151fs, XP_047281674.1:p.Val158fs

        4.

        rs1486768112 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          10:42592829 (GRCh38)
          10:43088277 (GRCh37)
          Canonical SPDI:
          NC_000010.11:42592828:T:A
          Gene:
          ZNF33B (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1482713340 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CATTCATAA>- [Show Flanks]
            Chromosome:
            10:42593370 (GRCh38)
            10:43088818 (GRCh37)
            Canonical SPDI:
            NC_000010.11:42593359:ACATTCATAACATTCATAA:ACATTCATAA
            Gene:
            ZNF33B (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,inframe_deletion
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ACATTCATAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.42593361CATTCATAA[1], NC_000010.10:g.43088809CATTCATAA[1], NM_006955.3:c.1573TATGAATGT[1], NM_006955.2:c.1573TATGAATGT[1], NM_006955.1:c.1573TATGAATGT[1], NM_001305040.2:c.1237TATGAATGT[1], NM_001305040.1:c.1237TATGAATGT[1], NM_001305039.2:c.1237TATGAATGT[1], NM_001305039.1:c.1237TATGAATGT[1], NM_001305035.2:c.1237TATGAATGT[1], NM_001305035.1:c.1237TATGAATGT[1], NM_001305038.2:c.1237TATGAATGT[1], NM_001305038.1:c.1237TATGAATGT[1], NM_001305036.2:c.1237TATGAATGT[1], NM_001305036.1:c.1237TATGAATGT[1], NM_001305033.2:c.1594TATGAATGT[1], NM_001305033.1:c.1594TATGAATGT[1], NM_001305037.2:c.1237TATGAATGT[1], NM_001305037.1:c.1237TATGAATGT[1], XM_047425719.1:c.1570TATGAATGT[1], XM_047425718.1:c.1591TATGAATGT[1], NP_008886.1:p.525YEC[1], NP_001291969.1:p.413YEC[1], NP_001291968.1:p.413YEC[1], NP_001291964.1:p.413YEC[1], NP_001291967.1:p.413YEC[1], NP_001291965.1:p.413YEC[1], NP_001291962.1:p.532YEC[1], NP_001291966.1:p.413YEC[1], XP_047281675.1:p.524YEC[1], XP_047281674.1:p.531YEC[1]

            6.

            rs1482535435 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              10:42592660 (GRCh38)
              10:43088108 (GRCh37)
              Canonical SPDI:
              NC_000010.11:42592659:G:C
              Gene:
              ZNF33B (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant
              HGVS:
              NC_000010.11:g.42592660G>C, NC_000010.10:g.43088108G>C, NM_006955.3:c.2290C>G, NM_006955.2:c.2290C>G, NM_006955.1:c.2290C>G, NM_001305040.2:c.1954C>G, NM_001305040.1:c.1954C>G, NM_001305039.2:c.1954C>G, NM_001305039.1:c.1954C>G, NM_001305035.2:c.1954C>G, NM_001305035.1:c.1954C>G, NM_001305038.2:c.1954C>G, NM_001305038.1:c.1954C>G, NM_001305036.2:c.1954C>G, NM_001305036.1:c.1954C>G, NM_001305033.2:c.2311C>G, NM_001305033.1:c.2311C>G, NM_001305037.2:c.1954C>G, NM_001305037.1:c.1954C>G, XM_047425719.1:c.2287C>G, XM_047425718.1:c.2308C>G, NP_008886.1:p.Leu764Val, NP_001291969.1:p.Leu652Val, NP_001291968.1:p.Leu652Val, NP_001291964.1:p.Leu652Val, NP_001291967.1:p.Leu652Val, NP_001291965.1:p.Leu652Val, NP_001291962.1:p.Leu771Val, NP_001291966.1:p.Leu652Val, XP_047281675.1:p.Leu763Val, XP_047281674.1:p.Leu770Val

              7.

              rs1482421486 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:42593781 (GRCh38)
                10:43089229 (GRCh37)
                Canonical SPDI:
                NC_000010.11:42593780:C:T
                Gene:
                ZNF33B (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.42593781C>T, NC_000010.10:g.43089229C>T, NM_006955.3:c.1169G>A, NM_006955.2:c.1169G>A, NM_006955.1:c.1169G>A, NM_001305040.2:c.833G>A, NM_001305040.1:c.833G>A, NM_001305039.2:c.833G>A, NM_001305039.1:c.833G>A, NM_001305035.2:c.833G>A, NM_001305035.1:c.833G>A, NM_001305038.2:c.833G>A, NM_001305038.1:c.833G>A, NM_001305036.2:c.833G>A, NM_001305036.1:c.833G>A, NM_001305033.2:c.1190G>A, NM_001305033.1:c.1190G>A, NM_001305037.2:c.833G>A, NM_001305037.1:c.833G>A, XM_047425719.1:c.1166G>A, XM_047425718.1:c.1187G>A, NP_008886.1:p.Cys390Tyr, NP_001291969.1:p.Cys278Tyr, NP_001291968.1:p.Cys278Tyr, NP_001291964.1:p.Cys278Tyr, NP_001291967.1:p.Cys278Tyr, NP_001291965.1:p.Cys278Tyr, NP_001291962.1:p.Cys397Tyr, NP_001291966.1:p.Cys278Tyr, XP_047281675.1:p.Cys389Tyr, XP_047281674.1:p.Cys396Tyr

                8.

                rs1482391069 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:42594551 (GRCh38)
                  10:43089999 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:42594550:A:G
                  Gene:
                  ZNF33B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1476990560 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    10:42593940 (GRCh38)
                    10:43089388 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:42593939:G:C
                    Gene:
                    ZNF33B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.42593940G>C, NC_000010.10:g.43089388G>C, NM_006955.3:c.1010C>G, NM_006955.2:c.1010C>G, NM_006955.1:c.1010C>G, NM_001305040.2:c.674C>G, NM_001305040.1:c.674C>G, NM_001305039.2:c.674C>G, NM_001305039.1:c.674C>G, NM_001305035.2:c.674C>G, NM_001305035.1:c.674C>G, NM_001305038.2:c.674C>G, NM_001305038.1:c.674C>G, NM_001305036.2:c.674C>G, NM_001305036.1:c.674C>G, NM_001305033.2:c.1031C>G, NM_001305033.1:c.1031C>G, NM_001305037.2:c.674C>G, NM_001305037.1:c.674C>G, XM_047425719.1:c.1007C>G, XM_047425718.1:c.1028C>G, NP_008886.1:p.Ala337Gly, NP_001291969.1:p.Ala225Gly, NP_001291968.1:p.Ala225Gly, NP_001291964.1:p.Ala225Gly, NP_001291967.1:p.Ala225Gly, NP_001291965.1:p.Ala225Gly, NP_001291962.1:p.Ala344Gly, NP_001291966.1:p.Ala225Gly, XP_047281675.1:p.Ala336Gly, XP_047281674.1:p.Ala343Gly

                    10.

                    rs1476439657 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:42592949 (GRCh38)
                      10:43088397 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:42592948:A:G
                      Gene:
                      ZNF33B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1475160948 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        10:42593394 (GRCh38)
                        10:43088842 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:42593393:T:A
                        Gene:
                        ZNF33B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.42593394T>A, NC_000010.10:g.43088842T>A, NM_006955.3:c.1556A>T, NM_006955.2:c.1556A>T, NM_006955.1:c.1556A>T, NM_001305040.2:c.1220A>T, NM_001305040.1:c.1220A>T, NM_001305039.2:c.1220A>T, NM_001305039.1:c.1220A>T, NM_001305035.2:c.1220A>T, NM_001305035.1:c.1220A>T, NM_001305038.2:c.1220A>T, NM_001305038.1:c.1220A>T, NM_001305036.2:c.1220A>T, NM_001305036.1:c.1220A>T, NM_001305033.2:c.1577A>T, NM_001305033.1:c.1577A>T, NM_001305037.2:c.1220A>T, NM_001305037.1:c.1220A>T, XM_047425719.1:c.1553A>T, XM_047425718.1:c.1574A>T, NP_008886.1:p.His519Leu, NP_001291969.1:p.His407Leu, NP_001291968.1:p.His407Leu, NP_001291964.1:p.His407Leu, NP_001291967.1:p.His407Leu, NP_001291965.1:p.His407Leu, NP_001291962.1:p.His526Leu, NP_001291966.1:p.His407Leu, XP_047281675.1:p.His518Leu, XP_047281674.1:p.His525Leu

                        12.

                        rs1473128536 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:42594357 (GRCh38)
                          10:43089805 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:42594356:T:C
                          Gene:
                          ZNF33B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_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:

                          13.

                          rs1472217924 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:42593301 (GRCh38)
                            10:43088749 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:42593300:T:C
                            Gene:
                            ZNF33B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.42593301T>C, NC_000010.10:g.43088749T>C, NM_006955.3:c.1649A>G, NM_006955.2:c.1649A>G, NM_006955.1:c.1649A>G, NM_001305040.2:c.1313A>G, NM_001305040.1:c.1313A>G, NM_001305039.2:c.1313A>G, NM_001305039.1:c.1313A>G, NM_001305035.2:c.1313A>G, NM_001305035.1:c.1313A>G, NM_001305038.2:c.1313A>G, NM_001305038.1:c.1313A>G, NM_001305036.2:c.1313A>G, NM_001305036.1:c.1313A>G, NM_001305033.2:c.1670A>G, NM_001305033.1:c.1670A>G, NM_001305037.2:c.1313A>G, NM_001305037.1:c.1313A>G, XM_047425719.1:c.1646A>G, XM_047425718.1:c.1667A>G, NP_008886.1:p.Glu550Gly, NP_001291969.1:p.Glu438Gly, NP_001291968.1:p.Glu438Gly, NP_001291964.1:p.Glu438Gly, NP_001291967.1:p.Glu438Gly, NP_001291965.1:p.Glu438Gly, NP_001291962.1:p.Glu557Gly, NP_001291966.1:p.Glu438Gly, XP_047281675.1:p.Glu549Gly, XP_047281674.1:p.Glu556Gly

                            14.

                            rs1470390076 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:42593608 (GRCh38)
                              10:43089056 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:42593607:T:C
                              Gene:
                              ZNF33B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_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_000010.11:g.42593608T>C, NC_000010.10:g.43089056T>C, NM_006955.3:c.1342A>G, NM_006955.2:c.1342A>G, NM_006955.1:c.1342A>G, NM_001305040.2:c.1006A>G, NM_001305040.1:c.1006A>G, NM_001305039.2:c.1006A>G, NM_001305039.1:c.1006A>G, NM_001305035.2:c.1006A>G, NM_001305035.1:c.1006A>G, NM_001305038.2:c.1006A>G, NM_001305038.1:c.1006A>G, NM_001305036.2:c.1006A>G, NM_001305036.1:c.1006A>G, NM_001305033.2:c.1363A>G, NM_001305033.1:c.1363A>G, NM_001305037.2:c.1006A>G, NM_001305037.1:c.1006A>G, XM_047425719.1:c.1339A>G, XM_047425718.1:c.1360A>G, NP_008886.1:p.Lys448Glu, NP_001291969.1:p.Lys336Glu, NP_001291968.1:p.Lys336Glu, NP_001291964.1:p.Lys336Glu, NP_001291967.1:p.Lys336Glu, NP_001291965.1:p.Lys336Glu, NP_001291962.1:p.Lys455Glu, NP_001291966.1:p.Lys336Glu, XP_047281675.1:p.Lys447Glu, XP_047281674.1:p.Lys454Glu

                              15.

                              rs1467105651 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                10:42593035 (GRCh38)
                                10:43088483 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:42593034:A:C
                                Gene:
                                ZNF33B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.42593035A>C, NC_000010.10:g.43088483A>C, NM_006955.3:c.1915T>G, NM_006955.2:c.1915T>G, NM_006955.1:c.1915T>G, NM_001305040.2:c.1579T>G, NM_001305040.1:c.1579T>G, NM_001305039.2:c.1579T>G, NM_001305039.1:c.1579T>G, NM_001305035.2:c.1579T>G, NM_001305035.1:c.1579T>G, NM_001305038.2:c.1579T>G, NM_001305038.1:c.1579T>G, NM_001305036.2:c.1579T>G, NM_001305036.1:c.1579T>G, NM_001305033.2:c.1936T>G, NM_001305033.1:c.1936T>G, NM_001305037.2:c.1579T>G, NM_001305037.1:c.1579T>G, XM_047425719.1:c.1912T>G, XM_047425718.1:c.1933T>G, NP_008886.1:p.Cys639Gly, NP_001291969.1:p.Cys527Gly, NP_001291968.1:p.Cys527Gly, NP_001291964.1:p.Cys527Gly, NP_001291967.1:p.Cys527Gly, NP_001291965.1:p.Cys527Gly, NP_001291962.1:p.Cys646Gly, NP_001291966.1:p.Cys527Gly, XP_047281675.1:p.Cys638Gly, XP_047281674.1:p.Cys645Gly

                                16.

                                rs1465217404 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  10:42594595 (GRCh38)
                                  10:43090043 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:42594594:C:A,NC_000010.11:42594594:C:T
                                  Gene:
                                  ZNF33B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.42594595C>A, NC_000010.11:g.42594595C>T, NC_000010.10:g.43090043C>A, NC_000010.10:g.43090043C>T, NM_006955.3:c.355G>T, NM_006955.3:c.355G>A, NM_006955.2:c.355G>T, NM_006955.2:c.355G>A, NM_006955.1:c.355G>T, NM_006955.1:c.355G>A, NM_001305040.2:c.19G>T, NM_001305040.2:c.19G>A, NM_001305040.1:c.19G>T, NM_001305040.1:c.19G>A, NM_001305039.2:c.19G>T, NM_001305039.2:c.19G>A, NM_001305039.1:c.19G>T, NM_001305039.1:c.19G>A, NM_001305035.2:c.19G>T, NM_001305035.2:c.19G>A, NM_001305035.1:c.19G>T, NM_001305035.1:c.19G>A, NM_001305038.2:c.19G>T, NM_001305038.2:c.19G>A, NM_001305038.1:c.19G>T, NM_001305038.1:c.19G>A, NM_001305036.2:c.19G>T, NM_001305036.2:c.19G>A, NM_001305036.1:c.19G>T, NM_001305036.1:c.19G>A, NM_001305033.2:c.376G>T, NM_001305033.2:c.376G>A, NM_001305033.1:c.376G>T, NM_001305033.1:c.376G>A, NM_001305037.2:c.19G>T, NM_001305037.2:c.19G>A, NM_001305037.1:c.19G>T, NM_001305037.1:c.19G>A, NR_130948.2:n.496G>T, NR_130948.2:n.496G>A, NR_130948.1:n.763G>T, NR_130948.1:n.763G>A, NR_130949.2:n.428G>T, NR_130949.2:n.428G>A, NR_130949.1:n.695G>T, NR_130949.1:n.695G>A, NR_130950.2:n.348G>T, NR_130950.2:n.348G>A, NR_130950.1:n.615G>T, NR_130950.1:n.615G>A, NR_130951.2:n.298G>T, NR_130951.2:n.298G>A, NR_130951.1:n.565G>T, NR_130951.1:n.565G>A, XM_047425719.1:c.352G>T, XM_047425719.1:c.352G>A, XM_047425718.1:c.373G>T, XM_047425718.1:c.373G>A, NP_008886.1:p.Gly119Cys, NP_008886.1:p.Gly119Ser, NP_001291969.1:p.Gly7Cys, NP_001291969.1:p.Gly7Ser, NP_001291968.1:p.Gly7Cys, NP_001291968.1:p.Gly7Ser, NP_001291964.1:p.Gly7Cys, NP_001291964.1:p.Gly7Ser, NP_001291967.1:p.Gly7Cys, NP_001291967.1:p.Gly7Ser, NP_001291965.1:p.Gly7Cys, NP_001291965.1:p.Gly7Ser, NP_001291962.1:p.Gly126Cys, NP_001291962.1:p.Gly126Ser, NP_001291966.1:p.Gly7Cys, NP_001291966.1:p.Gly7Ser, XP_047281675.1:p.Gly118Cys, XP_047281675.1:p.Gly118Ser, XP_047281674.1:p.Gly125Cys, XP_047281674.1:p.Gly125Ser

                                  17.

                                  rs1463253729 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    10:42593638 (GRCh38)
                                    10:43089086 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:42593637:G:T
                                    Gene:
                                    ZNF33B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.42593638G>T, NC_000010.10:g.43089086G>T, NM_006955.3:c.1312C>A, NM_006955.2:c.1312C>A, NM_006955.1:c.1312C>A, NM_001305040.2:c.976C>A, NM_001305040.1:c.976C>A, NM_001305039.2:c.976C>A, NM_001305039.1:c.976C>A, NM_001305035.2:c.976C>A, NM_001305035.1:c.976C>A, NM_001305038.2:c.976C>A, NM_001305038.1:c.976C>A, NM_001305036.2:c.976C>A, NM_001305036.1:c.976C>A, NM_001305033.2:c.1333C>A, NM_001305033.1:c.1333C>A, NM_001305037.2:c.976C>A, NM_001305037.1:c.976C>A, XM_047425719.1:c.1309C>A, XM_047425718.1:c.1330C>A, NP_008886.1:p.Gln438Lys, NP_001291969.1:p.Gln326Lys, NP_001291968.1:p.Gln326Lys, NP_001291964.1:p.Gln326Lys, NP_001291967.1:p.Gln326Lys, NP_001291965.1:p.Gln326Lys, NP_001291962.1:p.Gln445Lys, NP_001291966.1:p.Gln326Lys, XP_047281675.1:p.Gln437Lys, XP_047281674.1:p.Gln444Lys

                                    18.

                                    rs1463237610 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:42592687 (GRCh38)
                                      10:43088135 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:42592686:T:C
                                      Gene:
                                      ZNF33B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.42592687T>C, NC_000010.10:g.43088135T>C, NM_006955.3:c.2263A>G, NM_006955.2:c.2263A>G, NM_006955.1:c.2263A>G, NM_001305040.2:c.1927A>G, NM_001305040.1:c.1927A>G, NM_001305039.2:c.1927A>G, NM_001305039.1:c.1927A>G, NM_001305035.2:c.1927A>G, NM_001305035.1:c.1927A>G, NM_001305038.2:c.1927A>G, NM_001305038.1:c.1927A>G, NM_001305036.2:c.1927A>G, NM_001305036.1:c.1927A>G, NM_001305033.2:c.2284A>G, NM_001305033.1:c.2284A>G, NM_001305037.2:c.1927A>G, NM_001305037.1:c.1927A>G, XM_047425719.1:c.2260A>G, XM_047425718.1:c.2281A>G, NP_008886.1:p.Arg755Gly, NP_001291969.1:p.Arg643Gly, NP_001291968.1:p.Arg643Gly, NP_001291964.1:p.Arg643Gly, NP_001291967.1:p.Arg643Gly, NP_001291965.1:p.Arg643Gly, NP_001291962.1:p.Arg762Gly, NP_001291966.1:p.Arg643Gly, XP_047281675.1:p.Arg754Gly, XP_047281674.1:p.Arg761Gly

                                      19.

                                      rs1463222465 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        10:42593533 (GRCh38)
                                        10:43088981 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:42593532:C:G,NC_000010.11:42593532:C:T
                                        Gene:
                                        ZNF33B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000031/1 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.42593533C>G, NC_000010.11:g.42593533C>T, NC_000010.10:g.43088981C>G, NC_000010.10:g.43088981C>T, NM_006955.3:c.1417G>C, NM_006955.3:c.1417G>A, NM_006955.2:c.1417G>C, NM_006955.2:c.1417G>A, NM_006955.1:c.1417G>C, NM_006955.1:c.1417G>A, NM_001305040.2:c.1081G>C, NM_001305040.2:c.1081G>A, NM_001305040.1:c.1081G>C, NM_001305040.1:c.1081G>A, NM_001305039.2:c.1081G>C, NM_001305039.2:c.1081G>A, NM_001305039.1:c.1081G>C, NM_001305039.1:c.1081G>A, NM_001305035.2:c.1081G>C, NM_001305035.2:c.1081G>A, NM_001305035.1:c.1081G>C, NM_001305035.1:c.1081G>A, NM_001305038.2:c.1081G>C, NM_001305038.2:c.1081G>A, NM_001305038.1:c.1081G>C, NM_001305038.1:c.1081G>A, NM_001305036.2:c.1081G>C, NM_001305036.2:c.1081G>A, NM_001305036.1:c.1081G>C, NM_001305036.1:c.1081G>A, NM_001305033.2:c.1438G>C, NM_001305033.2:c.1438G>A, NM_001305033.1:c.1438G>C, NM_001305033.1:c.1438G>A, NM_001305037.2:c.1081G>C, NM_001305037.2:c.1081G>A, NM_001305037.1:c.1081G>C, NM_001305037.1:c.1081G>A, XM_047425719.1:c.1414G>C, XM_047425719.1:c.1414G>A, XM_047425718.1:c.1435G>C, XM_047425718.1:c.1435G>A, NP_008886.1:p.Glu473Gln, NP_008886.1:p.Glu473Lys, NP_001291969.1:p.Glu361Gln, NP_001291969.1:p.Glu361Lys, NP_001291968.1:p.Glu361Gln, NP_001291968.1:p.Glu361Lys, NP_001291964.1:p.Glu361Gln, NP_001291964.1:p.Glu361Lys, NP_001291967.1:p.Glu361Gln, NP_001291967.1:p.Glu361Lys, NP_001291965.1:p.Glu361Gln, NP_001291965.1:p.Glu361Lys, NP_001291962.1:p.Glu480Gln, NP_001291962.1:p.Glu480Lys, NP_001291966.1:p.Glu361Gln, NP_001291966.1:p.Glu361Lys, XP_047281675.1:p.Glu472Gln, XP_047281675.1:p.Glu472Lys, XP_047281674.1:p.Glu479Gln, XP_047281674.1:p.Glu479Lys

                                        20.

                                        rs1463183783 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TA>- [Show Flanks]
                                          Chromosome:
                                          10:42594283 (GRCh38)
                                          10:43089731 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:42594279:ATATA:ATA
                                          Gene:
                                          ZNF33B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          ATA=0.000094/1 (ALFA)
                                          -=0.000008/2 (GnomAD_exomes)
                                          -=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.42594281TA[1], NC_000010.10:g.43089729TA[1], NM_006955.3:c.669_670del, NM_006955.2:c.669_670del, NM_006955.1:c.669_670del, NM_001305040.2:c.333_334del, NM_001305040.1:c.333_334del, NM_001305039.2:c.333_334del, NM_001305039.1:c.333_334del, NM_001305035.2:c.333_334del, NM_001305035.1:c.333_334del, NM_001305038.2:c.333_334del, NM_001305038.1:c.333_334del, NM_001305036.2:c.333_334del, NM_001305036.1:c.333_334del, NM_001305033.2:c.690_691del, NM_001305033.1:c.690_691del, NM_001305037.2:c.333_334del, NM_001305037.1:c.333_334del, XM_047425719.1:c.666_667del, XM_047425718.1:c.687_688del, NP_008886.1:p.Ile223fs, NP_001291969.1:p.Ile111fs, NP_001291968.1:p.Ile111fs, NP_001291964.1:p.Ile111fs, NP_001291967.1:p.Ile111fs, NP_001291965.1:p.Ile111fs, NP_001291962.1:p.Ile230fs, NP_001291966.1:p.Ile111fs, XP_047281675.1:p.Ile222fs, XP_047281674.1:p.Ile229fs

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