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Items: 1 to 20 of 861

1.

rs1487384539 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:69931823 (GRCh38)
    16:69965726 (GRCh37)
    Canonical SPDI:
    NC_000016.10:69931822:G:A
    Gene:
    WWP2 (Varview), MIR140 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
    HGVS:
    NC_000016.10:g.69931823G>A, NC_000016.9:g.69965726G>A, NM_007014.5:c.1615G>A, NM_007014.4:c.1615G>A, XM_011522826.4:c.1267G>A, XM_011522826.3:c.1267G>A, XM_011522826.2:c.1267G>A, XM_011522826.1:c.1267G>A, XM_011522823.3:c.1615G>A, XM_011522823.2:c.1615G>A, XM_011522823.1:c.1615G>A, NM_199424.3:c.298G>A, NM_199424.2:c.298G>A, XM_017022879.2:c.1615G>A, XM_017022879.1:c.1615G>A, XM_017022881.2:c.1615G>A, XM_017022881.1:c.1615G>A, XM_017022880.2:c.1615G>A, XM_017022880.1:c.1615G>A, NM_001270454.2:c.1615G>A, NM_001270454.1:c.1615G>A, XM_011522825.2:c.1615G>A, XM_011522825.1:c.1615G>A, NM_001270453.2:c.1267G>A, NM_001270453.1:c.1267G>A, XM_047433520.1:c.1615G>A, XM_047433522.1:c.1615G>A, XM_047433523.1:c.1615G>A, XM_047433521.1:c.1615G>A, XM_047433524.1:c.1267G>A, NP_008945.2:p.Asp539Asn, XP_011521128.1:p.Asp423Asn, XP_011521125.1:p.Asp539Asn, NP_955456.1:p.Asp100Asn, XP_016878368.1:p.Asp539Asn, XP_016878370.1:p.Asp539Asn, XP_016878369.1:p.Asp539Asn, NP_001257383.1:p.Asp539Asn, XP_011521127.1:p.Asp539Asn, NP_001257382.1:p.Asp423Asn, XP_047289476.1:p.Asp539Asn, XP_047289478.1:p.Asp539Asn, XP_047289479.1:p.Asp539Asn, XP_047289477.1:p.Asp539Asn, XP_047289480.1:p.Asp423Asn

    2.

    rs1484483718 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:69935986 (GRCh38)
      16:69969889 (GRCh37)
      Canonical SPDI:
      NC_000016.10:69935985:A:G
      Gene:
      WWP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.69935986A>G, NC_000016.9:g.69969889A>G, NM_007014.5:c.1976A>G, NM_007014.4:c.1976A>G, XM_011522826.4:c.1628A>G, XM_011522826.3:c.1628A>G, XM_011522826.2:c.1628A>G, XM_011522826.1:c.1628A>G, XM_011522823.3:c.1976A>G, XM_011522823.2:c.1976A>G, XM_011522823.1:c.1976A>G, NM_199424.3:c.659A>G, NM_199424.2:c.659A>G, XM_017022879.2:c.1976A>G, XM_017022879.1:c.1976A>G, XM_017022881.2:c.1976A>G, XM_017022881.1:c.1976A>G, XM_017022880.2:c.1976A>G, XM_017022880.1:c.1976A>G, NM_001270454.2:c.1976A>G, NM_001270454.1:c.1976A>G, XM_011522825.2:c.1976A>G, XM_011522825.1:c.1976A>G, NM_001270453.2:c.1628A>G, NM_001270453.1:c.1628A>G, XM_047433520.1:c.1976A>G, XM_047433522.1:c.1976A>G, XM_047433523.1:c.1976A>G, XM_047433521.1:c.1976A>G, XM_047433524.1:c.1628A>G, NP_008945.2:p.Lys659Arg, XP_011521128.1:p.Lys543Arg, XP_011521125.1:p.Lys659Arg, NP_955456.1:p.Lys220Arg, XP_016878368.1:p.Lys659Arg, XP_016878370.1:p.Lys659Arg, XP_016878369.1:p.Lys659Arg, NP_001257383.1:p.Lys659Arg, XP_011521127.1:p.Lys659Arg, NP_001257382.1:p.Lys543Arg, XP_047289476.1:p.Lys659Arg, XP_047289478.1:p.Lys659Arg, XP_047289479.1:p.Lys659Arg, XP_047289477.1:p.Lys659Arg, XP_047289480.1:p.Lys543Arg

      3.

      rs1481111754 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:69799276 (GRCh38)
        16:69833179 (GRCh37)
        Canonical SPDI:
        NC_000016.10:69799275:G:A
        Gene:
        WWP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1480491390 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          16:69798701 (GRCh38)
          16:69832604 (GRCh37)
          Canonical SPDI:
          NC_000016.10:69798700:G:A,NC_000016.10:69798700:G:T
          Gene:
          WWP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.69798701G>A, NC_000016.10:g.69798701G>T, NC_000016.9:g.69832604G>A, NC_000016.9:g.69832604G>T, NM_007014.5:c.90G>A, NM_007014.5:c.90G>T, NM_007014.4:c.90G>A, NM_007014.4:c.90G>T, XM_011522823.3:c.90G>A, XM_011522823.3:c.90G>T, XM_011522823.2:c.90G>A, XM_011522823.2:c.90G>T, XM_011522823.1:c.90G>A, XM_011522823.1:c.90G>T, XM_017022879.2:c.90G>A, XM_017022879.2:c.90G>T, XM_017022879.1:c.90G>A, XM_017022879.1:c.90G>T, XM_017022881.2:c.90G>A, XM_017022881.2:c.90G>T, XM_017022881.1:c.90G>A, XM_017022881.1:c.90G>T, XM_017022880.2:c.90G>A, XM_017022880.2:c.90G>T, XM_017022880.1:c.90G>A, XM_017022880.1:c.90G>T, NM_001270454.2:c.90G>A, NM_001270454.2:c.90G>T, NM_001270454.1:c.90G>A, NM_001270454.1:c.90G>T, XM_011522825.2:c.90G>A, XM_011522825.2:c.90G>T, XM_011522825.1:c.90G>A, XM_011522825.1:c.90G>T, NM_001270455.2:c.90G>A, NM_001270455.2:c.90G>T, NM_001270455.1:c.90G>A, NM_001270455.1:c.90G>T, XM_047433520.1:c.90G>A, XM_047433520.1:c.90G>T, XM_047433522.1:c.90G>A, XM_047433522.1:c.90G>T, XM_047433523.1:c.90G>A, XM_047433523.1:c.90G>T, XM_047433521.1:c.90G>A, XM_047433521.1:c.90G>T, NM_199423.1:c.90G>A, NM_199423.1:c.90G>T, NP_008945.2:p.Lys30Asn, XP_011521125.1:p.Lys30Asn, XP_016878368.1:p.Lys30Asn, XP_016878370.1:p.Lys30Asn, XP_016878369.1:p.Lys30Asn, NP_001257383.1:p.Lys30Asn, XP_011521127.1:p.Lys30Asn, NP_001257384.1:p.Lys30Asn, XP_047289476.1:p.Lys30Asn, XP_047289478.1:p.Lys30Asn, XP_047289479.1:p.Lys30Asn, XP_047289477.1:p.Lys30Asn

          5.

          rs1478046533 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:69936362 (GRCh38)
            16:69970265 (GRCh37)
            Canonical SPDI:
            NC_000016.10:69936361:T:C
            Gene:
            WWP2 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.69936362T>C, NC_000016.9:g.69970265T>C, NM_007014.5:c.2027T>C, NM_007014.4:c.2027T>C, XM_011522826.4:c.1679T>C, XM_011522826.3:c.1679T>C, XM_011522826.2:c.1679T>C, XM_011522826.1:c.1679T>C, XM_011522823.3:c.2027T>C, XM_011522823.2:c.2027T>C, XM_011522823.1:c.2027T>C, NM_199424.3:c.710T>C, NM_199424.2:c.710T>C, XM_017022879.2:c.2027T>C, XM_017022879.1:c.2027T>C, XM_017022881.2:c.2027T>C, XM_017022881.1:c.2027T>C, XM_017022880.2:c.2027T>C, XM_017022880.1:c.2027T>C, NM_001270454.2:c.2027T>C, NM_001270454.1:c.2027T>C, XM_011522825.2:c.2027T>C, XM_011522825.1:c.2027T>C, NM_001270453.2:c.1679T>C, NM_001270453.1:c.1679T>C, XM_047433520.1:c.2027T>C, XM_047433522.1:c.2027T>C, XM_047433523.1:c.2027T>C, XM_047433521.1:c.2027T>C, XM_047433524.1:c.1679T>C, NP_008945.2:p.Met676Thr, XP_011521128.1:p.Met560Thr, XP_011521125.1:p.Met676Thr, NP_955456.1:p.Met237Thr, XP_016878368.1:p.Met676Thr, XP_016878370.1:p.Met676Thr, XP_016878369.1:p.Met676Thr, NP_001257383.1:p.Met676Thr, XP_011521127.1:p.Met676Thr, NP_001257382.1:p.Met560Thr, XP_047289476.1:p.Met676Thr, XP_047289478.1:p.Met676Thr, XP_047289479.1:p.Met676Thr, XP_047289477.1:p.Met676Thr, XP_047289480.1:p.Met560Thr

            6.

            rs1477324474 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,G [Show Flanks]
              Chromosome:
              16:69871916 (GRCh38)
              16:69905819 (GRCh37)
              Canonical SPDI:
              NC_000016.10:69871915:T:A,NC_000016.10:69871915:T:G
              Gene:
              WWP2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000043/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000016.10:g.69871916T>A, NC_000016.10:g.69871916T>G, NC_000016.9:g.69905819T>A, NC_000016.9:g.69905819T>G, NM_007014.5:c.688T>A, NM_007014.5:c.688T>G, NM_007014.4:c.688T>A, NM_007014.4:c.688T>G, XM_011522826.4:c.340T>A, XM_011522826.4:c.340T>G, XM_011522826.3:c.340T>A, XM_011522826.3:c.340T>G, XM_011522826.2:c.340T>A, XM_011522826.2:c.340T>G, XM_011522826.1:c.340T>A, XM_011522826.1:c.340T>G, XM_011522823.3:c.688T>A, XM_011522823.3:c.688T>G, XM_011522823.2:c.688T>A, XM_011522823.2:c.688T>G, XM_011522823.1:c.688T>A, XM_011522823.1:c.688T>G, XM_017022879.2:c.688T>A, XM_017022879.2:c.688T>G, XM_017022879.1:c.688T>A, XM_017022879.1:c.688T>G, XM_017022881.2:c.688T>A, XM_017022881.2:c.688T>G, XM_017022881.1:c.688T>A, XM_017022881.1:c.688T>G, XM_017022880.2:c.688T>A, XM_017022880.2:c.688T>G, XM_017022880.1:c.688T>A, XM_017022880.1:c.688T>G, NM_001270454.2:c.688T>A, NM_001270454.2:c.688T>G, NM_001270454.1:c.688T>A, NM_001270454.1:c.688T>G, XM_011522825.2:c.688T>A, XM_011522825.2:c.688T>G, XM_011522825.1:c.688T>A, XM_011522825.1:c.688T>G, NM_001270453.2:c.340T>A, NM_001270453.2:c.340T>G, NM_001270453.1:c.340T>A, NM_001270453.1:c.340T>G, NM_001270455.2:c.688T>A, NM_001270455.2:c.688T>G, NM_001270455.1:c.688T>A, NM_001270455.1:c.688T>G, XM_047433520.1:c.688T>A, XM_047433520.1:c.688T>G, XM_047433522.1:c.688T>A, XM_047433522.1:c.688T>G, XM_047433523.1:c.688T>A, XM_047433523.1:c.688T>G, XM_047433521.1:c.688T>A, XM_047433521.1:c.688T>G, XM_047433524.1:c.340T>A, XM_047433524.1:c.340T>G, NM_199423.1:c.688T>A, NM_199423.1:c.688T>G, NP_008945.2:p.Leu230Met, NP_008945.2:p.Leu230Val, XP_011521128.1:p.Leu114Met, XP_011521128.1:p.Leu114Val, XP_011521125.1:p.Leu230Met, XP_011521125.1:p.Leu230Val, XP_016878368.1:p.Leu230Met, XP_016878368.1:p.Leu230Val, XP_016878370.1:p.Leu230Met, XP_016878370.1:p.Leu230Val, XP_016878369.1:p.Leu230Met, XP_016878369.1:p.Leu230Val, NP_001257383.1:p.Leu230Met, NP_001257383.1:p.Leu230Val, XP_011521127.1:p.Leu230Met, XP_011521127.1:p.Leu230Val, NP_001257382.1:p.Leu114Met, NP_001257382.1:p.Leu114Val, NP_001257384.1:p.Leu230Met, NP_001257384.1:p.Leu230Val, XP_047289476.1:p.Leu230Met, XP_047289476.1:p.Leu230Val, XP_047289478.1:p.Leu230Met, XP_047289478.1:p.Leu230Val, XP_047289479.1:p.Leu230Met, XP_047289479.1:p.Leu230Val, XP_047289477.1:p.Leu230Met, XP_047289477.1:p.Leu230Val, XP_047289480.1:p.Leu114Met, XP_047289480.1:p.Leu114Val

              7.

              rs1477186513 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:69931192 (GRCh38)
                16:69965095 (GRCh37)
                Canonical SPDI:
                NC_000016.10:69931191:C:T
                Gene:
                WWP2 (Varview), MIR140 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.69931192C>T, NC_000016.9:g.69965095C>T, NM_007014.5:c.1486C>T, NM_007014.4:c.1486C>T, XM_011522826.4:c.1138C>T, XM_011522826.3:c.1138C>T, XM_011522826.2:c.1138C>T, XM_011522826.1:c.1138C>T, XM_011522823.3:c.1486C>T, XM_011522823.2:c.1486C>T, XM_011522823.1:c.1486C>T, NM_199424.3:c.169C>T, NM_199424.2:c.169C>T, XM_017022879.2:c.1486C>T, XM_017022879.1:c.1486C>T, XM_017022881.2:c.1486C>T, XM_017022881.1:c.1486C>T, XM_017022880.2:c.1486C>T, XM_017022880.1:c.1486C>T, NM_001270454.2:c.1486C>T, NM_001270454.1:c.1486C>T, XM_011522825.2:c.1486C>T, XM_011522825.1:c.1486C>T, NM_001270453.2:c.1138C>T, NM_001270453.1:c.1138C>T, XM_047433520.1:c.1486C>T, XM_047433522.1:c.1486C>T, XM_047433523.1:c.1486C>T, XM_047433521.1:c.1486C>T, XM_047433524.1:c.1138C>T, NP_008945.2:p.Arg496Trp, XP_011521128.1:p.Arg380Trp, XP_011521125.1:p.Arg496Trp, NP_955456.1:p.Arg57Trp, XP_016878368.1:p.Arg496Trp, XP_016878370.1:p.Arg496Trp, XP_016878369.1:p.Arg496Trp, NP_001257383.1:p.Arg496Trp, XP_011521127.1:p.Arg496Trp, NP_001257382.1:p.Arg380Trp, XP_047289476.1:p.Arg496Trp, XP_047289478.1:p.Arg496Trp, XP_047289479.1:p.Arg496Trp, XP_047289477.1:p.Arg496Trp, XP_047289480.1:p.Arg380Trp

                8.

                rs1475609729 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:69939031 (GRCh38)
                  16:69972934 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:69939030:T:C
                  Gene:
                  WWP2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.69939031T>C, NC_000016.9:g.69972934T>C, NM_007014.5:c.2348T>C, NM_007014.4:c.2348T>C, XM_011522826.4:c.2000T>C, XM_011522826.3:c.2000T>C, XM_011522826.2:c.2000T>C, XM_011522826.1:c.2000T>C, XM_011522823.3:c.2348T>C, XM_011522823.2:c.2348T>C, XM_011522823.1:c.2348T>C, NM_199424.3:c.1031T>C, NM_199424.2:c.1031T>C, XM_017022879.2:c.2348T>C, XM_017022879.1:c.2348T>C, XM_017022881.2:c.2348T>C, XM_017022881.1:c.2348T>C, XM_017022880.2:c.2348T>C, XM_017022880.1:c.2348T>C, NM_001270454.2:c.2348T>C, NM_001270454.1:c.2348T>C, XM_011522825.2:c.2348T>C, XM_011522825.1:c.2348T>C, NM_001270453.2:c.2000T>C, NM_001270453.1:c.2000T>C, XM_047433520.1:c.2348T>C, XM_047433522.1:c.2348T>C, XM_047433523.1:c.2348T>C, XM_047433521.1:c.2348T>C, XM_047433524.1:c.2000T>C, NP_008945.2:p.Val783Ala, XP_011521128.1:p.Val667Ala, XP_011521125.1:p.Val783Ala, NP_955456.1:p.Val344Ala, XP_016878368.1:p.Val783Ala, XP_016878370.1:p.Val783Ala, XP_016878369.1:p.Val783Ala, NP_001257383.1:p.Val783Ala, XP_011521127.1:p.Val783Ala, NP_001257382.1:p.Val667Ala, XP_047289476.1:p.Val783Ala, XP_047289478.1:p.Val783Ala, XP_047289479.1:p.Val783Ala, XP_047289477.1:p.Val783Ala, XP_047289480.1:p.Val667Ala

                  9.

                  rs1475229008 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:69939096 (GRCh38)
                    16:69972999 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:69939095:C:T
                    Gene:
                    WWP2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_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_000016.10:g.69939096C>T, NC_000016.9:g.69972999C>T, NM_007014.5:c.2413C>T, NM_007014.4:c.2413C>T, XM_011522826.4:c.2065C>T, XM_011522826.3:c.2065C>T, XM_011522826.2:c.2065C>T, XM_011522826.1:c.2065C>T, XM_011522823.3:c.2413C>T, XM_011522823.2:c.2413C>T, XM_011522823.1:c.2413C>T, NM_199424.3:c.1096C>T, NM_199424.2:c.1096C>T, XM_017022879.2:c.2413C>T, XM_017022879.1:c.2413C>T, XM_017022881.2:c.2413C>T, XM_017022881.1:c.2413C>T, XM_017022880.2:c.2413C>T, XM_017022880.1:c.2413C>T, NM_001270454.2:c.2413C>T, NM_001270454.1:c.2413C>T, XM_011522825.2:c.2413C>T, XM_011522825.1:c.2413C>T, NM_001270453.2:c.2065C>T, NM_001270453.1:c.2065C>T, XM_047433520.1:c.2413C>T, XM_047433522.1:c.2413C>T, XM_047433523.1:c.2413C>T, XM_047433521.1:c.2413C>T, XM_047433524.1:c.2065C>T, NP_008945.2:p.Pro805Ser, XP_011521128.1:p.Pro689Ser, XP_011521125.1:p.Pro805Ser, NP_955456.1:p.Pro366Ser, XP_016878368.1:p.Pro805Ser, XP_016878370.1:p.Pro805Ser, XP_016878369.1:p.Pro805Ser, NP_001257383.1:p.Pro805Ser, XP_011521127.1:p.Pro805Ser, NP_001257382.1:p.Pro689Ser, XP_047289476.1:p.Pro805Ser, XP_047289478.1:p.Pro805Ser, XP_047289479.1:p.Pro805Ser, XP_047289477.1:p.Pro805Ser, XP_047289480.1:p.Pro689Ser

                    10.

                    rs1473692136 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:69939890 (GRCh38)
                      16:69973793 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:69939889:G:A
                      Gene:
                      WWP2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_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_000016.10:g.69939890G>A, NC_000016.9:g.69973793G>A, NM_007014.5:c.2563G>A, NM_007014.4:c.2563G>A, XM_011522826.4:c.2215G>A, XM_011522826.3:c.2215G>A, XM_011522826.2:c.2215G>A, XM_011522826.1:c.2215G>A, XM_011522823.3:c.2563G>A, XM_011522823.2:c.2563G>A, XM_011522823.1:c.2563G>A, NM_199424.3:c.1246G>A, NM_199424.2:c.1246G>A, XM_017022879.2:c.2563G>A, XM_017022879.1:c.2563G>A, XM_017022881.2:c.2563G>A, XM_017022881.1:c.2563G>A, XM_017022880.2:c.2563G>A, XM_017022880.1:c.2563G>A, NM_001270454.2:c.2563G>A, NM_001270454.1:c.2563G>A, XM_011522825.2:c.2563G>A, XM_011522825.1:c.2563G>A, NM_001270453.2:c.2215G>A, NM_001270453.1:c.2215G>A, XM_047433520.1:c.2563G>A, XM_047433522.1:c.2563G>A, XM_047433523.1:c.2563G>A, XM_047433521.1:c.2563G>A, XM_047433524.1:c.2215G>A, NP_008945.2:p.Glu855Lys, XP_011521128.1:p.Glu739Lys, XP_011521125.1:p.Glu855Lys, NP_955456.1:p.Glu416Lys, XP_016878368.1:p.Glu855Lys, XP_016878370.1:p.Glu855Lys, XP_016878369.1:p.Glu855Lys, NP_001257383.1:p.Glu855Lys, XP_011521127.1:p.Glu855Lys, NP_001257382.1:p.Glu739Lys, XP_047289476.1:p.Glu855Lys, XP_047289478.1:p.Glu855Lys, XP_047289479.1:p.Glu855Lys, XP_047289477.1:p.Glu855Lys, XP_047289480.1:p.Glu739Lys

                      11.

                      rs1473094766 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        16:69840260 (GRCh38)
                        16:69874163 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:69840259:G:A,NC_000016.10:69840259:G:C
                        Gene:
                        WWP2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000016.10:g.69840260G>A, NC_000016.10:g.69840260G>C, NC_000016.9:g.69874163G>A, NC_000016.9:g.69874163G>C, NM_007014.5:c.475G>A, NM_007014.5:c.475G>C, NM_007014.4:c.475G>A, NM_007014.4:c.475G>C, XM_011522826.4:c.127G>A, XM_011522826.4:c.127G>C, XM_011522826.3:c.127G>A, XM_011522826.3:c.127G>C, XM_011522826.2:c.127G>A, XM_011522826.2:c.127G>C, XM_011522826.1:c.127G>A, XM_011522826.1:c.127G>C, XM_011522823.3:c.475G>A, XM_011522823.3:c.475G>C, XM_011522823.2:c.475G>A, XM_011522823.2:c.475G>C, XM_011522823.1:c.475G>A, XM_011522823.1:c.475G>C, XM_017022879.2:c.475G>A, XM_017022879.2:c.475G>C, XM_017022879.1:c.475G>A, XM_017022879.1:c.475G>C, XM_017022881.2:c.475G>A, XM_017022881.2:c.475G>C, XM_017022881.1:c.475G>A, XM_017022881.1:c.475G>C, XM_017022880.2:c.475G>A, XM_017022880.2:c.475G>C, XM_017022880.1:c.475G>A, XM_017022880.1:c.475G>C, NM_001270454.2:c.475G>A, NM_001270454.2:c.475G>C, NM_001270454.1:c.475G>A, NM_001270454.1:c.475G>C, XM_011522825.2:c.475G>A, XM_011522825.2:c.475G>C, XM_011522825.1:c.475G>A, XM_011522825.1:c.475G>C, NM_001270453.2:c.127G>A, NM_001270453.2:c.127G>C, NM_001270453.1:c.127G>A, NM_001270453.1:c.127G>C, NM_001270455.2:c.475G>A, NM_001270455.2:c.475G>C, NM_001270455.1:c.475G>A, NM_001270455.1:c.475G>C, XM_047433520.1:c.475G>A, XM_047433520.1:c.475G>C, XM_047433522.1:c.475G>A, XM_047433522.1:c.475G>C, XM_047433523.1:c.475G>A, XM_047433523.1:c.475G>C, XM_047433521.1:c.475G>A, XM_047433521.1:c.475G>C, XM_047433524.1:c.127G>A, XM_047433524.1:c.127G>C, NM_199423.1:c.475G>A, NM_199423.1:c.475G>C, NP_008945.2:p.Asp159Asn, NP_008945.2:p.Asp159His, XP_011521128.1:p.Asp43Asn, XP_011521128.1:p.Asp43His, XP_011521125.1:p.Asp159Asn, XP_011521125.1:p.Asp159His, XP_016878368.1:p.Asp159Asn, XP_016878368.1:p.Asp159His, XP_016878370.1:p.Asp159Asn, XP_016878370.1:p.Asp159His, XP_016878369.1:p.Asp159Asn, XP_016878369.1:p.Asp159His, NP_001257383.1:p.Asp159Asn, NP_001257383.1:p.Asp159His, XP_011521127.1:p.Asp159Asn, XP_011521127.1:p.Asp159His, NP_001257382.1:p.Asp43Asn, NP_001257382.1:p.Asp43His, NP_001257384.1:p.Asp159Asn, NP_001257384.1:p.Asp159His, XP_047289476.1:p.Asp159Asn, XP_047289476.1:p.Asp159His, XP_047289478.1:p.Asp159Asn, XP_047289478.1:p.Asp159His, XP_047289479.1:p.Asp159Asn, XP_047289479.1:p.Asp159His, XP_047289477.1:p.Asp159Asn, XP_047289477.1:p.Asp159His, XP_047289480.1:p.Asp43Asn, XP_047289480.1:p.Asp43His

                        12.

                        rs1472086169 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:69931164 (GRCh38)
                          16:69965067 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:69931163:T:C
                          Gene:
                          WWP2 (Varview), MIR140 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1471053834 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            16:69917723 (GRCh38)
                            16:69951626 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:69917722:C:
                            Gene:
                            WWP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.000084/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000016.10:g.69917723del, NC_000016.9:g.69951626del, NM_007014.5:c.1019del, NM_007014.4:c.1019del, XM_011522826.4:c.671del, XM_011522826.3:c.671del, XM_011522826.2:c.671del, XM_011522826.1:c.671del, XM_011522823.3:c.1019del, XM_011522823.2:c.1019del, XM_011522823.1:c.1019del, XM_017022879.2:c.1019del, XM_017022879.1:c.1019del, XM_017022881.2:c.1019del, XM_017022881.1:c.1019del, XM_017022880.2:c.1019del, XM_017022880.1:c.1019del, NM_001270454.2:c.1019del, NM_001270454.1:c.1019del, XM_011522825.2:c.1019del, XM_011522825.1:c.1019del, NM_001270453.2:c.671del, NM_001270453.1:c.671del, XM_047433520.1:c.1019del, XM_047433522.1:c.1019del, XM_047433523.1:c.1019del, XM_047433521.1:c.1019del, XM_047433524.1:c.671del, NP_008945.2:p.Thr340fs, XP_011521128.1:p.Thr224fs, XP_011521125.1:p.Thr340fs, XP_016878368.1:p.Thr340fs, XP_016878370.1:p.Thr340fs, XP_016878369.1:p.Thr340fs, NP_001257383.1:p.Thr340fs, XP_011521127.1:p.Thr340fs, NP_001257382.1:p.Thr224fs, XP_047289476.1:p.Thr340fs, XP_047289478.1:p.Thr340fs, XP_047289479.1:p.Thr340fs, XP_047289477.1:p.Thr340fs, XP_047289480.1:p.Thr224fs

                            14.

                            rs1468775764 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              16:69939853 (GRCh38)
                              16:69973756 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:69939852:G:C
                              Gene:
                              WWP2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1466934089 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                16:69799289 (GRCh38)
                                16:69833192 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:69799288:G:T
                                Gene:
                                WWP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000023/6 (TOPMED)
                                HGVS:
                                NC_000016.10:g.69799289G>T, NC_000016.9:g.69833192G>T, NM_007014.5:c.334G>T, NM_007014.4:c.334G>T, XM_011522823.3:c.334G>T, XM_011522823.2:c.334G>T, XM_011522823.1:c.334G>T, XM_017022879.2:c.334G>T, XM_017022879.1:c.334G>T, XM_017022881.2:c.334G>T, XM_017022881.1:c.334G>T, XM_017022880.2:c.334G>T, XM_017022880.1:c.334G>T, NM_001270454.2:c.334G>T, NM_001270454.1:c.334G>T, XM_011522825.2:c.334G>T, XM_011522825.1:c.334G>T, NM_001270455.2:c.334G>T, NM_001270455.1:c.334G>T, XM_047433520.1:c.334G>T, XM_047433522.1:c.334G>T, XM_047433523.1:c.334G>T, XM_047433521.1:c.334G>T, NM_199423.1:c.334G>T, NP_008945.2:p.Gly112Cys, XP_011521125.1:p.Gly112Cys, XP_016878368.1:p.Gly112Cys, XP_016878370.1:p.Gly112Cys, XP_016878369.1:p.Gly112Cys, NP_001257383.1:p.Gly112Cys, XP_011521127.1:p.Gly112Cys, NP_001257384.1:p.Gly112Cys, XP_047289476.1:p.Gly112Cys, XP_047289478.1:p.Gly112Cys, XP_047289479.1:p.Gly112Cys, XP_047289477.1:p.Gly112Cys

                                16.

                                rs1466679267 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  16:69840138 (GRCh38)
                                  16:69874041 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:69840137:A:C,NC_000016.10:69840137:A:G
                                  Gene:
                                  WWP2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  G=0.000248/4 (TOMMO)
                                  HGVS:
                                  NC_000016.10:g.69840138A>C, NC_000016.10:g.69840138A>G, NC_000016.9:g.69874041A>C, NC_000016.9:g.69874041A>G, NM_007014.5:c.353A>C, NM_007014.5:c.353A>G, NM_007014.4:c.353A>C, NM_007014.4:c.353A>G, XM_011522826.4:c.5A>C, XM_011522826.4:c.5A>G, XM_011522826.3:c.5A>C, XM_011522826.3:c.5A>G, XM_011522826.2:c.5A>C, XM_011522826.2:c.5A>G, XM_011522826.1:c.5A>C, XM_011522826.1:c.5A>G, XM_011522823.3:c.353A>C, XM_011522823.3:c.353A>G, XM_011522823.2:c.353A>C, XM_011522823.2:c.353A>G, XM_011522823.1:c.353A>C, XM_011522823.1:c.353A>G, XM_017022879.2:c.353A>C, XM_017022879.2:c.353A>G, XM_017022879.1:c.353A>C, XM_017022879.1:c.353A>G, XM_017022881.2:c.353A>C, XM_017022881.2:c.353A>G, XM_017022881.1:c.353A>C, XM_017022881.1:c.353A>G, XM_017022880.2:c.353A>C, XM_017022880.2:c.353A>G, XM_017022880.1:c.353A>C, XM_017022880.1:c.353A>G, NM_001270454.2:c.353A>C, NM_001270454.2:c.353A>G, NM_001270454.1:c.353A>C, NM_001270454.1:c.353A>G, XM_011522825.2:c.353A>C, XM_011522825.2:c.353A>G, XM_011522825.1:c.353A>C, XM_011522825.1:c.353A>G, NM_001270453.2:c.5A>C, NM_001270453.2:c.5A>G, NM_001270453.1:c.5A>C, NM_001270453.1:c.5A>G, NM_001270455.2:c.353A>C, NM_001270455.2:c.353A>G, NM_001270455.1:c.353A>C, NM_001270455.1:c.353A>G, XM_047433520.1:c.353A>C, XM_047433520.1:c.353A>G, XM_047433522.1:c.353A>C, XM_047433522.1:c.353A>G, XM_047433523.1:c.353A>C, XM_047433523.1:c.353A>G, XM_047433521.1:c.353A>C, XM_047433521.1:c.353A>G, XM_047433524.1:c.5A>C, XM_047433524.1:c.5A>G, NM_199423.1:c.353A>C, NM_199423.1:c.353A>G, NP_008945.2:p.Gln118Pro, NP_008945.2:p.Gln118Arg, XP_011521128.1:p.Gln2Pro, XP_011521128.1:p.Gln2Arg, XP_011521125.1:p.Gln118Pro, XP_011521125.1:p.Gln118Arg, XP_016878368.1:p.Gln118Pro, XP_016878368.1:p.Gln118Arg, XP_016878370.1:p.Gln118Pro, XP_016878370.1:p.Gln118Arg, XP_016878369.1:p.Gln118Pro, XP_016878369.1:p.Gln118Arg, NP_001257383.1:p.Gln118Pro, NP_001257383.1:p.Gln118Arg, XP_011521127.1:p.Gln118Pro, XP_011521127.1:p.Gln118Arg, NP_001257382.1:p.Gln2Pro, NP_001257382.1:p.Gln2Arg, NP_001257384.1:p.Gln118Pro, NP_001257384.1:p.Gln118Arg, XP_047289476.1:p.Gln118Pro, XP_047289476.1:p.Gln118Arg, XP_047289478.1:p.Gln118Pro, XP_047289478.1:p.Gln118Arg, XP_047289479.1:p.Gln118Pro, XP_047289479.1:p.Gln118Arg, XP_047289477.1:p.Gln118Pro, XP_047289477.1:p.Gln118Arg, XP_047289480.1:p.Gln2Pro, XP_047289480.1:p.Gln2Arg

                                  17.

                                  rs1466567410 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:69933992 (GRCh38)
                                    16:69967895 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:69933991:C:T
                                    Gene:
                                    WWP2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.69933992C>T, NC_000016.9:g.69967895C>T, NM_007014.5:c.1705C>T, NM_007014.4:c.1705C>T, XM_011522826.4:c.1357C>T, XM_011522826.3:c.1357C>T, XM_011522826.2:c.1357C>T, XM_011522826.1:c.1357C>T, XM_011522823.3:c.1705C>T, XM_011522823.2:c.1705C>T, XM_011522823.1:c.1705C>T, NM_199424.3:c.388C>T, NM_199424.2:c.388C>T, XM_017022879.2:c.1705C>T, XM_017022879.1:c.1705C>T, XM_017022881.2:c.1705C>T, XM_017022881.1:c.1705C>T, XM_017022880.2:c.1705C>T, XM_017022880.1:c.1705C>T, NM_001270454.2:c.1705C>T, NM_001270454.1:c.1705C>T, XM_011522825.2:c.1705C>T, XM_011522825.1:c.1705C>T, NM_001270453.2:c.1357C>T, NM_001270453.1:c.1357C>T, XM_047433520.1:c.1705C>T, XM_047433522.1:c.1705C>T, XM_047433523.1:c.1705C>T, XM_047433521.1:c.1705C>T, XM_047433524.1:c.1357C>T, NP_008945.2:p.His569Tyr, XP_011521128.1:p.His453Tyr, XP_011521125.1:p.His569Tyr, NP_955456.1:p.His130Tyr, XP_016878368.1:p.His569Tyr, XP_016878370.1:p.His569Tyr, XP_016878369.1:p.His569Tyr, NP_001257383.1:p.His569Tyr, XP_011521127.1:p.His569Tyr, NP_001257382.1:p.His453Tyr, XP_047289476.1:p.His569Tyr, XP_047289478.1:p.His569Tyr, XP_047289479.1:p.His569Tyr, XP_047289477.1:p.His569Tyr, XP_047289480.1:p.His453Tyr

                                    18.

                                    rs1466372901 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:69888141 (GRCh38)
                                      16:69922044 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:69888140:C:T
                                      Gene:
                                      WWP2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.004673/1 (Vietnamese)
                                      HGVS:
                                      NC_000016.10:g.69888141C>T, NC_000016.9:g.69922044C>T, NM_007014.5:c.806C>T, NM_007014.4:c.806C>T, XM_011522826.4:c.458C>T, XM_011522826.3:c.458C>T, XM_011522826.2:c.458C>T, XM_011522826.1:c.458C>T, XM_011522823.3:c.806C>T, XM_011522823.2:c.806C>T, XM_011522823.1:c.806C>T, XM_017022879.2:c.806C>T, XM_017022879.1:c.806C>T, XM_017022881.2:c.806C>T, XM_017022881.1:c.806C>T, XM_017022880.2:c.806C>T, XM_017022880.1:c.806C>T, NM_001270454.2:c.806C>T, NM_001270454.1:c.806C>T, XM_011522825.2:c.806C>T, XM_011522825.1:c.806C>T, NM_001270453.2:c.458C>T, NM_001270453.1:c.458C>T, NM_001270455.2:c.806C>T, NM_001270455.1:c.806C>T, XM_047433520.1:c.806C>T, XM_047433522.1:c.806C>T, XM_047433523.1:c.806C>T, XM_047433521.1:c.806C>T, XM_047433524.1:c.458C>T, NM_199423.1:c.806C>T, NP_008945.2:p.Thr269Met, XP_011521128.1:p.Thr153Met, XP_011521125.1:p.Thr269Met, XP_016878368.1:p.Thr269Met, XP_016878370.1:p.Thr269Met, XP_016878369.1:p.Thr269Met, NP_001257383.1:p.Thr269Met, XP_011521127.1:p.Thr269Met, NP_001257382.1:p.Thr153Met, NP_001257384.1:p.Thr269Met, XP_047289476.1:p.Thr269Met, XP_047289478.1:p.Thr269Met, XP_047289479.1:p.Thr269Met, XP_047289477.1:p.Thr269Met, XP_047289480.1:p.Thr153Met

                                      19.

                                      rs1465550430 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G,T [Show Flanks]
                                        Chromosome:
                                        16:69931520 (GRCh38)
                                        16:69965423 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:69931519:A:C,NC_000016.10:69931519:A:G,NC_000016.10:69931519:A:T
                                        Gene:
                                        WWP2 (Varview), MIR140 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000094/1 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        C=0.007096/13 (Korea1K)
                                        HGVS:
                                        NC_000016.10:g.69931520A>C, NC_000016.10:g.69931520A>G, NC_000016.10:g.69931520A>T, NC_000016.9:g.69965423A>C, NC_000016.9:g.69965423A>G, NC_000016.9:g.69965423A>T, NM_007014.5:c.1533A>C, NM_007014.5:c.1533A>G, NM_007014.5:c.1533A>T, NM_007014.4:c.1533A>C, NM_007014.4:c.1533A>G, NM_007014.4:c.1533A>T, XM_011522826.4:c.1185A>C, XM_011522826.4:c.1185A>G, XM_011522826.4:c.1185A>T, XM_011522826.3:c.1185A>C, XM_011522826.3:c.1185A>G, XM_011522826.3:c.1185A>T, XM_011522826.2:c.1185A>C, XM_011522826.2:c.1185A>G, XM_011522826.2:c.1185A>T, XM_011522826.1:c.1185A>C, XM_011522826.1:c.1185A>G, XM_011522826.1:c.1185A>T, XM_011522823.3:c.1533A>C, XM_011522823.3:c.1533A>G, XM_011522823.3:c.1533A>T, XM_011522823.2:c.1533A>C, XM_011522823.2:c.1533A>G, XM_011522823.2:c.1533A>T, XM_011522823.1:c.1533A>C, XM_011522823.1:c.1533A>G, XM_011522823.1:c.1533A>T, NM_199424.3:c.216A>C, NM_199424.3:c.216A>G, NM_199424.3:c.216A>T, NM_199424.2:c.216A>C, NM_199424.2:c.216A>G, NM_199424.2:c.216A>T, XM_017022879.2:c.1533A>C, XM_017022879.2:c.1533A>G, XM_017022879.2:c.1533A>T, XM_017022879.1:c.1533A>C, XM_017022879.1:c.1533A>G, XM_017022879.1:c.1533A>T, XM_017022881.2:c.1533A>C, XM_017022881.2:c.1533A>G, XM_017022881.2:c.1533A>T, XM_017022881.1:c.1533A>C, XM_017022881.1:c.1533A>G, XM_017022881.1:c.1533A>T, XM_017022880.2:c.1533A>C, XM_017022880.2:c.1533A>G, XM_017022880.2:c.1533A>T, XM_017022880.1:c.1533A>C, XM_017022880.1:c.1533A>G, XM_017022880.1:c.1533A>T, NM_001270454.2:c.1533A>C, NM_001270454.2:c.1533A>G, NM_001270454.2:c.1533A>T, NM_001270454.1:c.1533A>C, NM_001270454.1:c.1533A>G, NM_001270454.1:c.1533A>T, XM_011522825.2:c.1533A>C, XM_011522825.2:c.1533A>G, XM_011522825.2:c.1533A>T, XM_011522825.1:c.1533A>C, XM_011522825.1:c.1533A>G, XM_011522825.1:c.1533A>T, NM_001270453.2:c.1185A>C, NM_001270453.2:c.1185A>G, NM_001270453.2:c.1185A>T, NM_001270453.1:c.1185A>C, NM_001270453.1:c.1185A>G, NM_001270453.1:c.1185A>T, XM_047433520.1:c.1533A>C, XM_047433520.1:c.1533A>G, XM_047433520.1:c.1533A>T, XM_047433522.1:c.1533A>C, XM_047433522.1:c.1533A>G, XM_047433522.1:c.1533A>T, XM_047433523.1:c.1533A>C, XM_047433523.1:c.1533A>G, XM_047433523.1:c.1533A>T, XM_047433521.1:c.1533A>C, XM_047433521.1:c.1533A>G, XM_047433521.1:c.1533A>T, XM_047433524.1:c.1185A>C, XM_047433524.1:c.1185A>G, XM_047433524.1:c.1185A>T

                                        20.

                                        rs1464979922 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:69931199 (GRCh38)
                                          16:69965102 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:69931198:A:G
                                          Gene:
                                          WWP2 (Varview), MIR140 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.69931199A>G, NC_000016.9:g.69965102A>G, NM_007014.5:c.1493A>G, NM_007014.4:c.1493A>G, XM_011522826.4:c.1145A>G, XM_011522826.3:c.1145A>G, XM_011522826.2:c.1145A>G, XM_011522826.1:c.1145A>G, XM_011522823.3:c.1493A>G, XM_011522823.2:c.1493A>G, XM_011522823.1:c.1493A>G, NM_199424.3:c.176A>G, NM_199424.2:c.176A>G, XM_017022879.2:c.1493A>G, XM_017022879.1:c.1493A>G, XM_017022881.2:c.1493A>G, XM_017022881.1:c.1493A>G, XM_017022880.2:c.1493A>G, XM_017022880.1:c.1493A>G, NM_001270454.2:c.1493A>G, NM_001270454.1:c.1493A>G, XM_011522825.2:c.1493A>G, XM_011522825.1:c.1493A>G, NM_001270453.2:c.1145A>G, NM_001270453.1:c.1145A>G, XM_047433520.1:c.1493A>G, XM_047433522.1:c.1493A>G, XM_047433523.1:c.1493A>G, XM_047433521.1:c.1493A>G, XM_047433524.1:c.1145A>G, NP_008945.2:p.Lys498Arg, XP_011521128.1:p.Lys382Arg, XP_011521125.1:p.Lys498Arg, NP_955456.1:p.Lys59Arg, XP_016878368.1:p.Lys498Arg, XP_016878370.1:p.Lys498Arg, XP_016878369.1:p.Lys498Arg, NP_001257383.1:p.Lys498Arg, XP_011521127.1:p.Lys498Arg, NP_001257382.1:p.Lys382Arg, XP_047289476.1:p.Lys498Arg, XP_047289478.1:p.Lys498Arg, XP_047289479.1:p.Lys498Arg, XP_047289477.1:p.Lys498Arg, XP_047289480.1:p.Lys382Arg

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