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Items: 1 to 20 of 79

1.

rs1484878688 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:50082854 (GRCh38)
    20:48699391 (GRCh37)
    Canonical SPDI:
    NC_000020.11:50082853:C:T
    Gene:
    UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000020.11:g.50082854C>T, NC_000020.10:g.48699391C>T, NG_029526.2:g.38104G>A, NM_021988.6:c.427G>A, NM_021988.5:c.427G>A, NM_022442.6:c.226G>A, NM_022442.5:c.226G>A, NM_001282575.3:c.190G>A, NM_001282575.2:c.190G>A, NM_001282575.1:c.190G>A, NM_199144.3:c.427G>A, NM_199144.2:c.427G>A, NM_001282578.3:c.190G>A, NM_001282578.2:c.190G>A, NM_001282578.1:c.190G>A, NM_001282577.3:c.190G>A, NM_001282577.2:c.190G>A, NM_001282577.1:c.190G>A, NM_001032288.3:c.358G>A, NM_001032288.2:c.358G>A, NM_001257394.2:c.226G>A, NM_001257394.1:c.226G>A, NM_001282576.2:c.232G>A, NM_001282576.1:c.232G>A, NM_001257393.2:c.427G>A, NM_001257393.1:c.427G>A, NM_001257398.2:c.232G>A, NM_001257398.1:c.232G>A, NM_001257399.2:c.232G>A, NM_001257399.1:c.232G>A, NM_001282579.2:c.232G>A, NM_001282579.1:c.232G>A, NM_001257397.2:c.232G>A, NM_001257397.1:c.232G>A, NM_001257395.2:c.349G>A, NM_001257395.1:c.349G>A, NM_001257396.2:c.232G>A, NM_001257396.1:c.232G>A, NR_047554.2:n.231G>A, NR_047554.1:n.279G>A, NM_003349.4:c.580G>A, NM_199203.3:c.1027G>A, NM_199203.2:c.1027G>A, NM_003349.3:c.580G>A, NR_047553.1:n.863G>A, NR_047555.1:n.702G>A, NR_047556.1:n.480G>A, NM_003349.1:c.580G>A, NP_068823.2:p.Val143Ile, NP_071887.1:p.Val76Ile, NP_001269504.1:p.Val64Ile, NP_954595.1:p.Val143Ile, NP_001269507.1:p.Val64Ile, NP_001269506.1:p.Val64Ile, NP_001027459.1:p.Val120Ile, NP_001244323.1:p.Val76Ile, NP_001269505.1:p.Val78Ile, NP_001244322.1:p.Val143Ile, NP_001244327.1:p.Val78Ile, NP_001244328.1:p.Val78Ile, NP_001269508.1:p.Val78Ile, NP_001244326.1:p.Val78Ile, NP_001244324.1:p.Val117Ile, NP_001244325.1:p.Val78Ile, NP_954673.2:p.Val343Ile

    2.

    rs1474079211 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      20:50084240 (GRCh38)
      20:48700777 (GRCh37)
      Canonical SPDI:
      NC_000020.11:50084239:G:T
      Gene:
      UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000020.11:g.50084240G>T, NC_000020.10:g.48700777G>T, NG_029526.2:g.36718C>A, NM_021988.6:c.255C>A, NM_021988.5:c.255C>A, NM_022442.6:c.54C>A, NM_022442.5:c.54C>A, NM_001282575.3:c.18C>A, NM_001282575.2:c.18C>A, NM_001282575.1:c.18C>A, NM_199144.3:c.255C>A, NM_199144.2:c.255C>A, NM_001282578.3:c.18C>A, NM_001282578.2:c.18C>A, NM_001282578.1:c.18C>A, NM_001282577.3:c.18C>A, NM_001282577.2:c.18C>A, NM_001282577.1:c.18C>A, NM_001032288.3:c.186C>A, NM_001032288.2:c.186C>A, NM_001257394.2:c.54C>A, NM_001257394.1:c.54C>A, NM_001282576.2:c.60C>A, NM_001282576.1:c.60C>A, NM_001257393.2:c.255C>A, NM_001257393.1:c.255C>A, NM_001257398.2:c.60C>A, NM_001257398.1:c.60C>A, NM_001257399.2:c.60C>A, NM_001257399.1:c.60C>A, NM_001282579.2:c.60C>A, NM_001282579.1:c.60C>A, NM_001257397.2:c.60C>A, NM_001257397.1:c.60C>A, NM_001257395.2:c.177C>A, NM_001257395.1:c.177C>A, NR_047554.2:n.59C>A, NR_047554.1:n.107C>A, NM_003349.4:c.408C>A, NM_199203.3:c.855C>A, NM_199203.2:c.855C>A, NM_003349.3:c.408C>A, NR_047553.1:n.691C>A, NR_047555.1:n.530C>A, NR_047556.1:n.308C>A, NM_003349.1:c.408C>A, NP_068823.2:p.Asn85Lys, NP_071887.1:p.Asn18Lys, NP_001269504.1:p.Asn6Lys, NP_954595.1:p.Asn85Lys, NP_001269507.1:p.Asn6Lys, NP_001269506.1:p.Asn6Lys, NP_001027459.1:p.Asn62Lys, NP_001244323.1:p.Asn18Lys, NP_001269505.1:p.Asn20Lys, NP_001244322.1:p.Asn85Lys, NP_001244327.1:p.Asn20Lys, NP_001244328.1:p.Asn20Lys, NP_001269508.1:p.Asn20Lys, NP_001244326.1:p.Asn20Lys, NP_001244324.1:p.Asn59Lys, NP_954673.2:p.Asn285Lys

      3.

      rs1470174753 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        20:50084187 (GRCh38)
        20:48700724 (GRCh37)
        Canonical SPDI:
        NC_000020.11:50084186:G:C
        Gene:
        UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000020.11:g.50084187G>C, NC_000020.10:g.48700724G>C, NG_029526.2:g.36771C>G, NM_021988.6:c.308C>G, NM_021988.5:c.308C>G, NM_022442.6:c.107C>G, NM_022442.5:c.107C>G, NM_001282575.3:c.71C>G, NM_001282575.2:c.71C>G, NM_001282575.1:c.71C>G, NM_199144.3:c.308C>G, NM_199144.2:c.308C>G, NM_001282578.3:c.71C>G, NM_001282578.2:c.71C>G, NM_001282578.1:c.71C>G, NM_001282577.3:c.71C>G, NM_001282577.2:c.71C>G, NM_001282577.1:c.71C>G, NM_001032288.3:c.239C>G, NM_001032288.2:c.239C>G, NM_001257394.2:c.107C>G, NM_001257394.1:c.107C>G, NM_001282576.2:c.113C>G, NM_001282576.1:c.113C>G, NM_001257393.2:c.308C>G, NM_001257393.1:c.308C>G, NM_001257398.2:c.113C>G, NM_001257398.1:c.113C>G, NM_001257399.2:c.113C>G, NM_001257399.1:c.113C>G, NM_001282579.2:c.113C>G, NM_001282579.1:c.113C>G, NM_001257397.2:c.113C>G, NM_001257397.1:c.113C>G, NM_001257395.2:c.230C>G, NM_001257395.1:c.230C>G, NR_047554.2:n.112C>G, NR_047554.1:n.160C>G, NM_003349.4:c.461C>G, NM_199203.3:c.908C>G, NM_199203.2:c.908C>G, NM_003349.3:c.461C>G, NR_047553.1:n.744C>G, NR_047555.1:n.583C>G, NR_047556.1:n.361C>G, NM_003349.1:c.461C>G, NP_068823.2:p.Pro103Arg, NP_071887.1:p.Pro36Arg, NP_001269504.1:p.Pro24Arg, NP_954595.1:p.Pro103Arg, NP_001269507.1:p.Pro24Arg, NP_001269506.1:p.Pro24Arg, NP_001027459.1:p.Pro80Arg, NP_001244323.1:p.Pro36Arg, NP_001269505.1:p.Pro38Arg, NP_001244322.1:p.Pro103Arg, NP_001244327.1:p.Pro38Arg, NP_001244328.1:p.Pro38Arg, NP_001269508.1:p.Pro38Arg, NP_001244326.1:p.Pro38Arg, NP_001244324.1:p.Pro77Arg, NP_954673.2:p.Pro303Arg

        4.

        rs1468384782 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          20:50084228 (GRCh38)
          20:48700765 (GRCh37)
          Canonical SPDI:
          NC_000020.11:50084227:G:C
          Gene:
          UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.50084228G>C, NC_000020.10:g.48700765G>C, NG_029526.2:g.36730C>G, NM_021988.6:c.267C>G, NM_021988.5:c.267C>G, NM_022442.6:c.66C>G, NM_022442.5:c.66C>G, NM_001282575.3:c.30C>G, NM_001282575.2:c.30C>G, NM_001282575.1:c.30C>G, NM_199144.3:c.267C>G, NM_199144.2:c.267C>G, NM_001282578.3:c.30C>G, NM_001282578.2:c.30C>G, NM_001282578.1:c.30C>G, NM_001282577.3:c.30C>G, NM_001282577.2:c.30C>G, NM_001282577.1:c.30C>G, NM_001032288.3:c.198C>G, NM_001032288.2:c.198C>G, NM_001257394.2:c.66C>G, NM_001257394.1:c.66C>G, NM_001282576.2:c.72C>G, NM_001282576.1:c.72C>G, NM_001257393.2:c.267C>G, NM_001257393.1:c.267C>G, NM_001257398.2:c.72C>G, NM_001257398.1:c.72C>G, NM_001257399.2:c.72C>G, NM_001257399.1:c.72C>G, NM_001282579.2:c.72C>G, NM_001282579.1:c.72C>G, NM_001257397.2:c.72C>G, NM_001257397.1:c.72C>G, NM_001257395.2:c.189C>G, NM_001257395.1:c.189C>G, NR_047554.2:n.71C>G, NR_047554.1:n.119C>G, NM_003349.4:c.420C>G, NM_199203.3:c.867C>G, NM_199203.2:c.867C>G, NM_003349.3:c.420C>G, NR_047553.1:n.703C>G, NR_047555.1:n.542C>G, NR_047556.1:n.320C>G, NM_003349.1:c.420C>G, NP_068823.2:p.Ser89Arg, NP_071887.1:p.Ser22Arg, NP_001269504.1:p.Ser10Arg, NP_954595.1:p.Ser89Arg, NP_001269507.1:p.Ser10Arg, NP_001269506.1:p.Ser10Arg, NP_001027459.1:p.Ser66Arg, NP_001244323.1:p.Ser22Arg, NP_001269505.1:p.Ser24Arg, NP_001244322.1:p.Ser89Arg, NP_001244327.1:p.Ser24Arg, NP_001244328.1:p.Ser24Arg, NP_001269508.1:p.Ser24Arg, NP_001244326.1:p.Ser24Arg, NP_001244324.1:p.Ser63Arg, NP_954673.2:p.Ser289Arg

          5.

          rs1460812332 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            20:50082838 (GRCh38)
            20:48699375 (GRCh37)
            Canonical SPDI:
            NC_000020.11:50082837:C:T
            Gene:
            UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            HGVS:
            NC_000020.11:g.50082838C>T, NC_000020.10:g.48699375C>T, NG_029526.2:g.38120G>A, NM_021988.6:c.443G>A, NM_021988.5:c.443G>A, NM_022442.6:c.242G>A, NM_022442.5:c.242G>A, NM_001282575.3:c.206G>A, NM_001282575.2:c.206G>A, NM_001282575.1:c.206G>A, NM_199144.3:c.443G>A, NM_199144.2:c.443G>A, NM_001282578.3:c.206G>A, NM_001282578.2:c.206G>A, NM_001282578.1:c.206G>A, NM_001282577.3:c.206G>A, NM_001282577.2:c.206G>A, NM_001282577.1:c.206G>A, NM_001032288.3:c.374G>A, NM_001032288.2:c.374G>A, NM_001257394.2:c.242G>A, NM_001257394.1:c.242G>A, NM_001282576.2:c.248G>A, NM_001282576.1:c.248G>A, NM_001257393.2:c.443G>A, NM_001257393.1:c.443G>A, NM_001257398.2:c.248G>A, NM_001257398.1:c.248G>A, NM_001257399.2:c.248G>A, NM_001257399.1:c.248G>A, NM_001282579.2:c.248G>A, NM_001282579.1:c.248G>A, NM_001257397.2:c.248G>A, NM_001257397.1:c.248G>A, NM_001257395.2:c.365G>A, NM_001257395.1:c.365G>A, NM_001257396.2:c.248G>A, NM_001257396.1:c.248G>A, NR_047554.2:n.247G>A, NR_047554.1:n.295G>A, NM_003349.4:c.596G>A, NM_199203.3:c.1043G>A, NM_199203.2:c.1043G>A, NM_003349.3:c.596G>A, NR_047553.1:n.879G>A, NR_047555.1:n.718G>A, NR_047556.1:n.496G>A, NM_003349.1:c.596G>A, NP_068823.2:p.Arg148Gln, NP_071887.1:p.Arg81Gln, NP_001269504.1:p.Arg69Gln, NP_954595.1:p.Arg148Gln, NP_001269507.1:p.Arg69Gln, NP_001269506.1:p.Arg69Gln, NP_001027459.1:p.Arg125Gln, NP_001244323.1:p.Arg81Gln, NP_001269505.1:p.Arg83Gln, NP_001244322.1:p.Arg148Gln, NP_001244327.1:p.Arg83Gln, NP_001244328.1:p.Arg83Gln, NP_001269508.1:p.Arg83Gln, NP_001244326.1:p.Arg83Gln, NP_001244324.1:p.Arg122Gln, NP_001244325.1:p.Arg83Gln, NP_954673.2:p.Arg348Gln

            6.

            rs1455390007 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              20:50084148 (GRCh38)
              20:48700685 (GRCh37)
              Canonical SPDI:
              NC_000020.11:50084147:A:G
              Gene:
              UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000020.11:g.50084148A>G, NC_000020.10:g.48700685A>G, NG_029526.2:g.36810T>C, NM_021988.6:c.347T>C, NM_021988.5:c.347T>C, NM_022442.6:c.146T>C, NM_022442.5:c.146T>C, NM_001282575.3:c.110T>C, NM_001282575.2:c.110T>C, NM_001282575.1:c.110T>C, NM_199144.3:c.347T>C, NM_199144.2:c.347T>C, NM_001282578.3:c.110T>C, NM_001282578.2:c.110T>C, NM_001282578.1:c.110T>C, NM_001282577.3:c.110T>C, NM_001282577.2:c.110T>C, NM_001282577.1:c.110T>C, NM_001032288.3:c.278T>C, NM_001032288.2:c.278T>C, NM_001257394.2:c.146T>C, NM_001257394.1:c.146T>C, NM_001282576.2:c.152T>C, NM_001282576.1:c.152T>C, NM_001257393.2:c.347T>C, NM_001257393.1:c.347T>C, NM_001257398.2:c.152T>C, NM_001257398.1:c.152T>C, NM_001257399.2:c.152T>C, NM_001257399.1:c.152T>C, NM_001282579.2:c.152T>C, NM_001282579.1:c.152T>C, NM_001257397.2:c.152T>C, NM_001257397.1:c.152T>C, NM_001257395.2:c.269T>C, NM_001257395.1:c.269T>C, NR_047554.2:n.151T>C, NR_047554.1:n.199T>C, NM_003349.4:c.500T>C, NM_199203.3:c.947T>C, NM_199203.2:c.947T>C, NM_003349.3:c.500T>C, NR_047553.1:n.783T>C, NR_047555.1:n.622T>C, NR_047556.1:n.400T>C, NM_003349.1:c.500T>C, NP_068823.2:p.Val116Ala, NP_071887.1:p.Val49Ala, NP_001269504.1:p.Val37Ala, NP_954595.1:p.Val116Ala, NP_001269507.1:p.Val37Ala, NP_001269506.1:p.Val37Ala, NP_001027459.1:p.Val93Ala, NP_001244323.1:p.Val49Ala, NP_001269505.1:p.Val51Ala, NP_001244322.1:p.Val116Ala, NP_001244327.1:p.Val51Ala, NP_001244328.1:p.Val51Ala, NP_001269508.1:p.Val51Ala, NP_001244326.1:p.Val51Ala, NP_001244324.1:p.Val90Ala, NP_954673.2:p.Val316Ala

              7.

              rs1454970558 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:50084239 (GRCh38)
                20:48700776 (GRCh37)
                Canonical SPDI:
                NC_000020.11:50084238:G:A
                Gene:
                UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                Functional Consequence:
                stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000020.11:g.50084239G>A, NC_000020.10:g.48700776G>A, NG_029526.2:g.36719C>T, NM_021988.6:c.256C>T, NM_021988.5:c.256C>T, NM_022442.6:c.55C>T, NM_022442.5:c.55C>T, NM_001282575.3:c.19C>T, NM_001282575.2:c.19C>T, NM_001282575.1:c.19C>T, NM_199144.3:c.256C>T, NM_199144.2:c.256C>T, NM_001282578.3:c.19C>T, NM_001282578.2:c.19C>T, NM_001282578.1:c.19C>T, NM_001282577.3:c.19C>T, NM_001282577.2:c.19C>T, NM_001282577.1:c.19C>T, NM_001032288.3:c.187C>T, NM_001032288.2:c.187C>T, NM_001257394.2:c.55C>T, NM_001257394.1:c.55C>T, NM_001282576.2:c.61C>T, NM_001282576.1:c.61C>T, NM_001257393.2:c.256C>T, NM_001257393.1:c.256C>T, NM_001257398.2:c.61C>T, NM_001257398.1:c.61C>T, NM_001257399.2:c.61C>T, NM_001257399.1:c.61C>T, NM_001282579.2:c.61C>T, NM_001282579.1:c.61C>T, NM_001257397.2:c.61C>T, NM_001257397.1:c.61C>T, NM_001257395.2:c.178C>T, NM_001257395.1:c.178C>T, NR_047554.2:n.60C>T, NR_047554.1:n.108C>T, NM_003349.4:c.409C>T, NM_199203.3:c.856C>T, NM_199203.2:c.856C>T, NM_003349.3:c.409C>T, NR_047553.1:n.692C>T, NR_047555.1:n.531C>T, NR_047556.1:n.309C>T, NM_003349.1:c.409C>T, NP_068823.2:p.Arg86Ter, NP_071887.1:p.Arg19Ter, NP_001269504.1:p.Arg7Ter, NP_954595.1:p.Arg86Ter, NP_001269507.1:p.Arg7Ter, NP_001269506.1:p.Arg7Ter, NP_001027459.1:p.Arg63Ter, NP_001244323.1:p.Arg19Ter, NP_001269505.1:p.Arg21Ter, NP_001244322.1:p.Arg86Ter, NP_001244327.1:p.Arg21Ter, NP_001244328.1:p.Arg21Ter, NP_001269508.1:p.Arg21Ter, NP_001244326.1:p.Arg21Ter, NP_001244324.1:p.Arg60Ter, NP_954673.2:p.Arg286Ter

                8.

                rs1444233956 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  20:50082894 (GRCh38)
                  20:48699431 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:50082893:T:C
                  Gene:
                  UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000020.11:g.50082894T>C, NC_000020.10:g.48699431T>C, NG_029526.2:g.38064A>G, NM_021988.6:c.387A>G, NM_021988.5:c.387A>G, NM_022442.6:c.186A>G, NM_022442.5:c.186A>G, NM_001282575.3:c.150A>G, NM_001282575.2:c.150A>G, NM_001282575.1:c.150A>G, NM_199144.3:c.387A>G, NM_199144.2:c.387A>G, NM_001282578.3:c.150A>G, NM_001282578.2:c.150A>G, NM_001282578.1:c.150A>G, NM_001282577.3:c.150A>G, NM_001282577.2:c.150A>G, NM_001282577.1:c.150A>G, NM_001032288.3:c.318A>G, NM_001032288.2:c.318A>G, NM_001257394.2:c.186A>G, NM_001257394.1:c.186A>G, NM_001282576.2:c.192A>G, NM_001282576.1:c.192A>G, NM_001257393.2:c.387A>G, NM_001257393.1:c.387A>G, NM_001257398.2:c.192A>G, NM_001257398.1:c.192A>G, NM_001257399.2:c.192A>G, NM_001257399.1:c.192A>G, NM_001282579.2:c.192A>G, NM_001282579.1:c.192A>G, NM_001257397.2:c.192A>G, NM_001257397.1:c.192A>G, NM_001257395.2:c.309A>G, NM_001257395.1:c.309A>G, NM_001257396.2:c.192A>G, NM_001257396.1:c.192A>G, NR_047554.2:n.191A>G, NR_047554.1:n.239A>G, NM_003349.4:c.540A>G, NM_199203.3:c.987A>G, NM_199203.2:c.987A>G, NM_003349.3:c.540A>G, NR_047553.1:n.823A>G, NR_047555.1:n.662A>G, NR_047556.1:n.440A>G, NM_003349.1:c.540A>G

                  9.

                  rs1441424265 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    20:50082812 (GRCh38)
                    20:48699349 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:50082811:T:C
                    Gene:
                    UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.50082812T>C, NC_000020.10:g.48699349T>C, NG_029526.2:g.38146A>G, NM_021988.6:c.469A>G, NM_021988.5:c.469A>G, NM_022442.6:c.268A>G, NM_022442.5:c.268A>G, NM_001282575.3:c.232A>G, NM_001282575.2:c.232A>G, NM_001282575.1:c.232A>G, NM_199144.3:c.469A>G, NM_199144.2:c.469A>G, NM_001282578.3:c.232A>G, NM_001282578.2:c.232A>G, NM_001282578.1:c.232A>G, NM_001282577.3:c.232A>G, NM_001282577.2:c.232A>G, NM_001282577.1:c.232A>G, NM_001032288.3:c.400A>G, NM_001032288.2:c.400A>G, NM_001257394.2:c.268A>G, NM_001257394.1:c.268A>G, NM_001282576.2:c.274A>G, NM_001282576.1:c.274A>G, NM_001257393.2:c.469A>G, NM_001257393.1:c.469A>G, NM_001257398.2:c.274A>G, NM_001257398.1:c.274A>G, NM_001257399.2:c.274A>G, NM_001257399.1:c.274A>G, NM_001282579.2:c.274A>G, NM_001282579.1:c.274A>G, NM_001257397.2:c.274A>G, NM_001257397.1:c.274A>G, NM_001257395.2:c.391A>G, NM_001257395.1:c.391A>G, NM_001257396.2:c.274A>G, NM_001257396.1:c.274A>G, NR_047554.2:n.273A>G, NR_047554.1:n.321A>G, NM_003349.4:c.622A>G, NM_199203.3:c.1069A>G, NM_199203.2:c.1069A>G, NM_003349.3:c.622A>G, NR_047553.1:n.905A>G, NR_047555.1:n.744A>G, NR_047556.1:n.522A>G, NM_003349.1:c.622A>G, NP_068823.2:p.Met157Val, NP_071887.1:p.Met90Val, NP_001269504.1:p.Met78Val, NP_954595.1:p.Met157Val, NP_001269507.1:p.Met78Val, NP_001269506.1:p.Met78Val, NP_001027459.1:p.Met134Val, NP_001244323.1:p.Met90Val, NP_001269505.1:p.Met92Val, NP_001244322.1:p.Met157Val, NP_001244327.1:p.Met92Val, NP_001244328.1:p.Met92Val, NP_001269508.1:p.Met92Val, NP_001244326.1:p.Met92Val, NP_001244324.1:p.Met131Val, NP_001244325.1:p.Met92Val, NP_954673.2:p.Met357Val

                    10.

                    rs1423493595 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:50082836 (GRCh38)
                      20:48699373 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:50082835:G:A
                      Gene:
                      UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,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 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000020.11:g.50082836G>A, NC_000020.10:g.48699373G>A, NG_029526.2:g.38122C>T, NM_021988.6:c.445C>T, NM_021988.5:c.445C>T, NM_022442.6:c.244C>T, NM_022442.5:c.244C>T, NM_001282575.3:c.208C>T, NM_001282575.2:c.208C>T, NM_001282575.1:c.208C>T, NM_199144.3:c.445C>T, NM_199144.2:c.445C>T, NM_001282578.3:c.208C>T, NM_001282578.2:c.208C>T, NM_001282578.1:c.208C>T, NM_001282577.3:c.208C>T, NM_001282577.2:c.208C>T, NM_001282577.1:c.208C>T, NM_001032288.3:c.376C>T, NM_001032288.2:c.376C>T, NM_001257394.2:c.244C>T, NM_001257394.1:c.244C>T, NM_001282576.2:c.250C>T, NM_001282576.1:c.250C>T, NM_001257393.2:c.445C>T, NM_001257393.1:c.445C>T, NM_001257398.2:c.250C>T, NM_001257398.1:c.250C>T, NM_001257399.2:c.250C>T, NM_001257399.1:c.250C>T, NM_001282579.2:c.250C>T, NM_001282579.1:c.250C>T, NM_001257397.2:c.250C>T, NM_001257397.1:c.250C>T, NM_001257395.2:c.367C>T, NM_001257395.1:c.367C>T, NM_001257396.2:c.250C>T, NM_001257396.1:c.250C>T, NR_047554.2:n.249C>T, NR_047554.1:n.297C>T, NM_003349.4:c.598C>T, NM_199203.3:c.1045C>T, NM_199203.2:c.1045C>T, NM_003349.3:c.598C>T, NR_047553.1:n.881C>T, NR_047555.1:n.720C>T, NR_047556.1:n.498C>T, NM_003349.1:c.598C>T, NP_068823.2:p.Arg149Cys, NP_071887.1:p.Arg82Cys, NP_001269504.1:p.Arg70Cys, NP_954595.1:p.Arg149Cys, NP_001269507.1:p.Arg70Cys, NP_001269506.1:p.Arg70Cys, NP_001027459.1:p.Arg126Cys, NP_001244323.1:p.Arg82Cys, NP_001269505.1:p.Arg84Cys, NP_001244322.1:p.Arg149Cys, NP_001244327.1:p.Arg84Cys, NP_001244328.1:p.Arg84Cys, NP_001269508.1:p.Arg84Cys, NP_001244326.1:p.Arg84Cys, NP_001244324.1:p.Arg123Cys, NP_001244325.1:p.Arg84Cys, NP_954673.2:p.Arg349Cys

                      11.

                      rs1422427283 has merged into rs748669969 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        G>-,GG [Show Flanks]
                        Chromosome:
                        20:50084186 (GRCh38)
                        20:48700723 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:50084185:GGGGGG:GGGGG,NC_000020.11:50084185:GGGGGG:GGGGGGG
                        Gene:
                        UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGGGGGG=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        -=0.000017/2 (ExAC)
                        HGVS:
                        NC_000020.11:g.50084191del, NC_000020.11:g.50084191dup, NC_000020.10:g.48700728del, NC_000020.10:g.48700728dup, NG_029526.2:g.36772del, NG_029526.2:g.36772dup, NM_021988.6:c.309del, NM_021988.6:c.309dup, NM_021988.5:c.309del, NM_021988.5:c.309dup, NM_022442.6:c.108del, NM_022442.6:c.108dup, NM_022442.5:c.108del, NM_022442.5:c.108dup, NM_001282575.3:c.72del, NM_001282575.3:c.72dup, NM_001282575.2:c.72del, NM_001282575.2:c.72dup, NM_001282575.1:c.72del, NM_001282575.1:c.72dup, NM_199144.3:c.309del, NM_199144.3:c.309dup, NM_199144.2:c.309del, NM_199144.2:c.309dup, NM_001282578.3:c.72del, NM_001282578.3:c.72dup, NM_001282578.2:c.72del, NM_001282578.2:c.72dup, NM_001282578.1:c.72del, NM_001282578.1:c.72dup, NM_001282577.3:c.72del, NM_001282577.3:c.72dup, NM_001282577.2:c.72del, NM_001282577.2:c.72dup, NM_001282577.1:c.72del, NM_001282577.1:c.72dup, NM_001032288.3:c.240del, NM_001032288.3:c.240dup, NM_001032288.2:c.240del, NM_001032288.2:c.240dup, NM_001257394.2:c.108del, NM_001257394.2:c.108dup, NM_001257394.1:c.108del, NM_001257394.1:c.108dup, NM_001282576.2:c.114del, NM_001282576.2:c.114dup, NM_001282576.1:c.114del, NM_001282576.1:c.114dup, NM_001257393.2:c.309del, NM_001257393.2:c.309dup, NM_001257393.1:c.309del, NM_001257393.1:c.309dup, NM_001257398.2:c.114del, NM_001257398.2:c.114dup, NM_001257398.1:c.114del, NM_001257398.1:c.114dup, NM_001257399.2:c.114del, NM_001257399.2:c.114dup, NM_001257399.1:c.114del, NM_001257399.1:c.114dup, NM_001282579.2:c.114del, NM_001282579.2:c.114dup, NM_001282579.1:c.114del, NM_001282579.1:c.114dup, NM_001257397.2:c.114del, NM_001257397.2:c.114dup, NM_001257397.1:c.114del, NM_001257397.1:c.114dup, NM_001257395.2:c.231del, NM_001257395.2:c.231dup, NM_001257395.1:c.231del, NM_001257395.1:c.231dup, NR_047554.2:n.113del, NR_047554.2:n.113dup, NR_047554.1:n.161del, NR_047554.1:n.161dup, NM_003349.4:c.462del, NM_003349.4:c.462dup, NM_199203.3:c.909del, NM_199203.3:c.909dup, NM_199203.2:c.909del, NM_199203.2:c.909dup, NM_003349.3:c.462del, NM_003349.3:c.462dup, NR_047553.1:n.745del, NR_047553.1:n.745dup, NR_047555.1:n.584del, NR_047555.1:n.584dup, NR_047556.1:n.362del, NR_047556.1:n.362dup, NM_003349.1:c.462del, NM_003349.1:c.462dup, NP_068823.2:p.Phe104fs, NP_068823.2:p.Phe104fs, NP_071887.1:p.Phe37fs, NP_071887.1:p.Phe37fs, NP_001269504.1:p.Phe25fs, NP_001269504.1:p.Phe25fs, NP_954595.1:p.Phe104fs, NP_954595.1:p.Phe104fs, NP_001269507.1:p.Phe25fs, NP_001269507.1:p.Phe25fs, NP_001269506.1:p.Phe25fs, NP_001269506.1:p.Phe25fs, NP_001027459.1:p.Phe81fs, NP_001027459.1:p.Phe81fs, NP_001244323.1:p.Phe37fs, NP_001244323.1:p.Phe37fs, NP_001269505.1:p.Phe39fs, NP_001269505.1:p.Phe39fs, NP_001244322.1:p.Phe104fs, NP_001244322.1:p.Phe104fs, NP_001244327.1:p.Phe39fs, NP_001244327.1:p.Phe39fs, NP_001244328.1:p.Phe39fs, NP_001244328.1:p.Phe39fs, NP_001269508.1:p.Phe39fs, NP_001269508.1:p.Phe39fs, NP_001244326.1:p.Phe39fs, NP_001244326.1:p.Phe39fs, NP_001244324.1:p.Phe78fs, NP_001244324.1:p.Phe78fs, NP_954673.2:p.Phe304fs, NP_954673.2:p.Phe304fs

                        12.

                        rs1400099552 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          20:50082769 (GRCh38)
                          20:48699306 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:50082768:T:C
                          Gene:
                          UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant,terminator_codon_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000111/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000020.11:g.50082769T>C, NC_000020.10:g.48699306T>C, NG_029526.2:g.38189A>G, NM_021988.6:c.512A>G, NM_021988.5:c.512A>G, NM_022442.6:c.311A>G, NM_022442.5:c.311A>G, NM_001282575.3:c.275A>G, NM_001282575.2:c.275A>G, NM_001282575.1:c.275A>G, NM_199144.3:c.512A>G, NM_199144.2:c.512A>G, NM_001282578.3:c.275A>G, NM_001282578.2:c.275A>G, NM_001282578.1:c.275A>G, NM_001282577.3:c.275A>G, NM_001282577.2:c.275A>G, NM_001282577.1:c.275A>G, NM_001032288.3:c.443A>G, NM_001032288.2:c.443A>G, NM_001257394.2:c.311A>G, NM_001257394.1:c.311A>G, NM_001282576.2:c.317A>G, NM_001282576.1:c.317A>G, NM_001257393.2:c.512A>G, NM_001257393.1:c.512A>G, NM_001257398.2:c.317A>G, NM_001257398.1:c.317A>G, NM_001257399.2:c.317A>G, NM_001257399.1:c.317A>G, NM_001282579.2:c.317A>G, NM_001282579.1:c.317A>G, NM_001257397.2:c.317A>G, NM_001257397.1:c.317A>G, NM_001257395.2:c.434A>G, NM_001257395.1:c.434A>G, NM_001257396.2:c.317A>G, NM_001257396.1:c.317A>G, NR_047554.2:n.316A>G, NR_047554.1:n.364A>G, NM_003349.4:c.665A>G, NM_199203.3:c.1112A>G, NM_199203.2:c.1112A>G, NM_003349.3:c.665A>G, NR_047553.1:n.948A>G, NR_047555.1:n.787A>G, NR_047556.1:n.565A>G, NM_003349.1:c.665A>G

                          13.

                          rs1395736346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            20:50082850 (GRCh38)
                            20:48699387 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:50082849:A:G
                            Gene:
                            UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000020.11:g.50082850A>G, NC_000020.10:g.48699387A>G, NG_029526.2:g.38108T>C, NM_021988.6:c.431T>C, NM_021988.5:c.431T>C, NM_022442.6:c.230T>C, NM_022442.5:c.230T>C, NM_001282575.3:c.194T>C, NM_001282575.2:c.194T>C, NM_001282575.1:c.194T>C, NM_199144.3:c.431T>C, NM_199144.2:c.431T>C, NM_001282578.3:c.194T>C, NM_001282578.2:c.194T>C, NM_001282578.1:c.194T>C, NM_001282577.3:c.194T>C, NM_001282577.2:c.194T>C, NM_001282577.1:c.194T>C, NM_001032288.3:c.362T>C, NM_001032288.2:c.362T>C, NM_001257394.2:c.230T>C, NM_001257394.1:c.230T>C, NM_001282576.2:c.236T>C, NM_001282576.1:c.236T>C, NM_001257393.2:c.431T>C, NM_001257393.1:c.431T>C, NM_001257398.2:c.236T>C, NM_001257398.1:c.236T>C, NM_001257399.2:c.236T>C, NM_001257399.1:c.236T>C, NM_001282579.2:c.236T>C, NM_001282579.1:c.236T>C, NM_001257397.2:c.236T>C, NM_001257397.1:c.236T>C, NM_001257395.2:c.353T>C, NM_001257395.1:c.353T>C, NM_001257396.2:c.236T>C, NM_001257396.1:c.236T>C, NR_047554.2:n.235T>C, NR_047554.1:n.283T>C, NM_003349.4:c.584T>C, NM_199203.3:c.1031T>C, NM_199203.2:c.1031T>C, NM_003349.3:c.584T>C, NR_047553.1:n.867T>C, NR_047555.1:n.706T>C, NR_047556.1:n.484T>C, NM_003349.1:c.584T>C, NP_068823.2:p.Leu144Pro, NP_071887.1:p.Leu77Pro, NP_001269504.1:p.Leu65Pro, NP_954595.1:p.Leu144Pro, NP_001269507.1:p.Leu65Pro, NP_001269506.1:p.Leu65Pro, NP_001027459.1:p.Leu121Pro, NP_001244323.1:p.Leu77Pro, NP_001269505.1:p.Leu79Pro, NP_001244322.1:p.Leu144Pro, NP_001244327.1:p.Leu79Pro, NP_001244328.1:p.Leu79Pro, NP_001269508.1:p.Leu79Pro, NP_001244326.1:p.Leu79Pro, NP_001244324.1:p.Leu118Pro, NP_001244325.1:p.Leu79Pro, NP_954673.2:p.Leu344Pro

                            14.

                            rs1338445976 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:50084202 (GRCh38)
                              20:48700739 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:50084201:T:C
                              Gene:
                              UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000020.11:g.50084202T>C, NC_000020.10:g.48700739T>C, NG_029526.2:g.36756A>G, NM_021988.6:c.293A>G, NM_021988.5:c.293A>G, NM_022442.6:c.92A>G, NM_022442.5:c.92A>G, NM_001282575.3:c.56A>G, NM_001282575.2:c.56A>G, NM_001282575.1:c.56A>G, NM_199144.3:c.293A>G, NM_199144.2:c.293A>G, NM_001282578.3:c.56A>G, NM_001282578.2:c.56A>G, NM_001282578.1:c.56A>G, NM_001282577.3:c.56A>G, NM_001282577.2:c.56A>G, NM_001282577.1:c.56A>G, NM_001032288.3:c.224A>G, NM_001032288.2:c.224A>G, NM_001257394.2:c.92A>G, NM_001257394.1:c.92A>G, NM_001282576.2:c.98A>G, NM_001282576.1:c.98A>G, NM_001257393.2:c.293A>G, NM_001257393.1:c.293A>G, NM_001257398.2:c.98A>G, NM_001257398.1:c.98A>G, NM_001257399.2:c.98A>G, NM_001257399.1:c.98A>G, NM_001282579.2:c.98A>G, NM_001282579.1:c.98A>G, NM_001257397.2:c.98A>G, NM_001257397.1:c.98A>G, NM_001257395.2:c.215A>G, NM_001257395.1:c.215A>G, NR_047554.2:n.97A>G, NR_047554.1:n.145A>G, NM_003349.4:c.446A>G, NM_199203.3:c.893A>G, NM_199203.2:c.893A>G, NM_003349.3:c.446A>G, NR_047553.1:n.729A>G, NR_047555.1:n.568A>G, NR_047556.1:n.346A>G, NM_003349.1:c.446A>G, NP_068823.2:p.Tyr98Cys, NP_071887.1:p.Tyr31Cys, NP_001269504.1:p.Tyr19Cys, NP_954595.1:p.Tyr98Cys, NP_001269507.1:p.Tyr19Cys, NP_001269506.1:p.Tyr19Cys, NP_001027459.1:p.Tyr75Cys, NP_001244323.1:p.Tyr31Cys, NP_001269505.1:p.Tyr33Cys, NP_001244322.1:p.Tyr98Cys, NP_001244327.1:p.Tyr33Cys, NP_001244328.1:p.Tyr33Cys, NP_001269508.1:p.Tyr33Cys, NP_001244326.1:p.Tyr33Cys, NP_001244324.1:p.Tyr72Cys, NP_954673.2:p.Tyr298Cys

                              15.

                              rs1337037767 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                20:50082791 (GRCh38)
                                20:48699328 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:50082790:C:T
                                Gene:
                                UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
                                HGVS:
                                NC_000020.11:g.50082791C>T, NC_000020.10:g.48699328C>T, NG_029526.2:g.38167G>A, NM_021988.6:c.490G>A, NM_021988.5:c.490G>A, NM_022442.6:c.289G>A, NM_022442.5:c.289G>A, NM_001282575.3:c.253G>A, NM_001282575.2:c.253G>A, NM_001282575.1:c.253G>A, NM_199144.3:c.490G>A, NM_199144.2:c.490G>A, NM_001282578.3:c.253G>A, NM_001282578.2:c.253G>A, NM_001282578.1:c.253G>A, NM_001282577.3:c.253G>A, NM_001282577.2:c.253G>A, NM_001282577.1:c.253G>A, NM_001032288.3:c.421G>A, NM_001032288.2:c.421G>A, NM_001257394.2:c.289G>A, NM_001257394.1:c.289G>A, NM_001282576.2:c.295G>A, NM_001282576.1:c.295G>A, NM_001257393.2:c.490G>A, NM_001257393.1:c.490G>A, NM_001257398.2:c.295G>A, NM_001257398.1:c.295G>A, NM_001257399.2:c.295G>A, NM_001257399.1:c.295G>A, NM_001282579.2:c.295G>A, NM_001282579.1:c.295G>A, NM_001257397.2:c.295G>A, NM_001257397.1:c.295G>A, NM_001257395.2:c.412G>A, NM_001257395.1:c.412G>A, NM_001257396.2:c.295G>A, NM_001257396.1:c.295G>A, NR_047554.2:n.294G>A, NR_047554.1:n.342G>A, NM_003349.4:c.643G>A, NM_199203.3:c.1090G>A, NM_199203.2:c.1090G>A, NM_003349.3:c.643G>A, NR_047553.1:n.926G>A, NR_047555.1:n.765G>A, NR_047556.1:n.543G>A, NM_003349.1:c.643G>A, NP_068823.2:p.Glu164Lys, NP_071887.1:p.Glu97Lys, NP_001269504.1:p.Glu85Lys, NP_954595.1:p.Glu164Lys, NP_001269507.1:p.Glu85Lys, NP_001269506.1:p.Glu85Lys, NP_001027459.1:p.Glu141Lys, NP_001244323.1:p.Glu97Lys, NP_001269505.1:p.Glu99Lys, NP_001244322.1:p.Glu164Lys, NP_001244327.1:p.Glu99Lys, NP_001244328.1:p.Glu99Lys, NP_001269508.1:p.Glu99Lys, NP_001244326.1:p.Glu99Lys, NP_001244324.1:p.Glu138Lys, NP_001244325.1:p.Glu99Lys, NP_954673.2:p.Glu364Lys

                                16.

                                rs1336535634 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CTTC>- [Show Flanks]
                                  Chromosome:
                                  20:50082788 (GRCh38)
                                  20:48699325 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:50082785:TCCTTC:TC
                                  Gene:
                                  UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant
                                  HGVS:
                                  NC_000020.11:g.50082788_50082791del, NC_000020.10:g.48699325_48699328del, NG_029526.2:g.38169_38172del, NM_021988.6:c.492_495del, NM_021988.5:c.492_495del, NM_022442.6:c.291_294del, NM_022442.5:c.291_294del, NM_001282575.3:c.255_258del, NM_001282575.2:c.255_258del, NM_001282575.1:c.255_258del, NM_199144.3:c.492_495del, NM_199144.2:c.492_495del, NM_001282578.3:c.255_258del, NM_001282578.2:c.255_258del, NM_001282578.1:c.255_258del, NM_001282577.3:c.255_258del, NM_001282577.2:c.255_258del, NM_001282577.1:c.255_258del, NM_001032288.3:c.423_426del, NM_001032288.2:c.423_426del, NM_001257394.2:c.291_294del, NM_001257394.1:c.291_294del, NM_001282576.2:c.297_300del, NM_001282576.1:c.297_300del, NM_001257393.2:c.492_495del, NM_001257393.1:c.492_495del, NM_001257398.2:c.297_300del, NM_001257398.1:c.297_300del, NM_001257399.2:c.297_300del, NM_001257399.1:c.297_300del, NM_001282579.2:c.297_300del, NM_001282579.1:c.297_300del, NM_001257397.2:c.297_300del, NM_001257397.1:c.297_300del, NM_001257395.2:c.414_417del, NM_001257395.1:c.414_417del, NM_001257396.2:c.297_300del, NM_001257396.1:c.297_300del, NR_047554.2:n.296_299del, NR_047554.1:n.344_347del, NM_003349.4:c.645_648del, NM_199203.3:c.1092_1095del, NM_199203.2:c.1092_1095del, NM_003349.3:c.645_648del, NR_047553.1:n.928_931del, NR_047555.1:n.767_770del, NR_047556.1:n.545_548del, NM_003349.1:c.645_648del, NP_068823.2:p.Glu164fs, NP_071887.1:p.Glu97fs, NP_001269504.1:p.Glu85fs, NP_954595.1:p.Glu164fs, NP_001269507.1:p.Glu85fs, NP_001269506.1:p.Glu85fs, NP_001027459.1:p.Glu141fs, NP_001244323.1:p.Glu97fs, NP_001269505.1:p.Glu99fs, NP_001244322.1:p.Glu164fs, NP_001244327.1:p.Glu99fs, NP_001244328.1:p.Glu99fs, NP_001269508.1:p.Glu99fs, NP_001244326.1:p.Glu99fs, NP_001244324.1:p.Glu138fs, NP_001244325.1:p.Glu99fs, NP_954673.2:p.Glu364fs

                                  17.

                                  rs1318244701 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:50084213 (GRCh38)
                                    20:48700750 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:50084212:A:G
                                    Gene:
                                    UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (GnomAD_exomes)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000177/3 (TOMMO)
                                    G=0.000684/2 (KOREAN)
                                    G=0.001092/2 (Korea1K)
                                    HGVS:
                                    NC_000020.11:g.50084213A>G, NC_000020.10:g.48700750A>G, NG_029526.2:g.36745T>C, NM_021988.6:c.282T>C, NM_021988.5:c.282T>C, NM_022442.6:c.81T>C, NM_022442.5:c.81T>C, NM_001282575.3:c.45T>C, NM_001282575.2:c.45T>C, NM_001282575.1:c.45T>C, NM_199144.3:c.282T>C, NM_199144.2:c.282T>C, NM_001282578.3:c.45T>C, NM_001282578.2:c.45T>C, NM_001282578.1:c.45T>C, NM_001282577.3:c.45T>C, NM_001282577.2:c.45T>C, NM_001282577.1:c.45T>C, NM_001032288.3:c.213T>C, NM_001032288.2:c.213T>C, NM_001257394.2:c.81T>C, NM_001257394.1:c.81T>C, NM_001282576.2:c.87T>C, NM_001282576.1:c.87T>C, NM_001257393.2:c.282T>C, NM_001257393.1:c.282T>C, NM_001257398.2:c.87T>C, NM_001257398.1:c.87T>C, NM_001257399.2:c.87T>C, NM_001257399.1:c.87T>C, NM_001282579.2:c.87T>C, NM_001282579.1:c.87T>C, NM_001257397.2:c.87T>C, NM_001257397.1:c.87T>C, NM_001257395.2:c.204T>C, NM_001257395.1:c.204T>C, NR_047554.2:n.86T>C, NR_047554.1:n.134T>C, NM_003349.4:c.435T>C, NM_199203.3:c.882T>C, NM_199203.2:c.882T>C, NM_003349.3:c.435T>C, NR_047553.1:n.718T>C, NR_047555.1:n.557T>C, NR_047556.1:n.335T>C, NM_003349.1:c.435T>C

                                    18.

                                    rs1280299514 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:50082912 (GRCh38)
                                      20:48699449 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:50082911:C:T
                                      Gene:
                                      UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000020.11:g.50082912C>T, NC_000020.10:g.48699449C>T, NG_029526.2:g.38046G>A, NM_021988.6:c.369G>A, NM_021988.5:c.369G>A, NM_022442.6:c.168G>A, NM_022442.5:c.168G>A, NM_001282575.3:c.132G>A, NM_001282575.2:c.132G>A, NM_001282575.1:c.132G>A, NM_199144.3:c.369G>A, NM_199144.2:c.369G>A, NM_001282578.3:c.132G>A, NM_001282578.2:c.132G>A, NM_001282578.1:c.132G>A, NM_001282577.3:c.132G>A, NM_001282577.2:c.132G>A, NM_001282577.1:c.132G>A, NM_001032288.3:c.300G>A, NM_001032288.2:c.300G>A, NM_001257394.2:c.168G>A, NM_001257394.1:c.168G>A, NM_001282576.2:c.174G>A, NM_001282576.1:c.174G>A, NM_001257393.2:c.369G>A, NM_001257393.1:c.369G>A, NM_001257398.2:c.174G>A, NM_001257398.1:c.174G>A, NM_001257399.2:c.174G>A, NM_001257399.1:c.174G>A, NM_001282579.2:c.174G>A, NM_001282579.1:c.174G>A, NM_001257397.2:c.174G>A, NM_001257397.1:c.174G>A, NM_001257395.2:c.291G>A, NM_001257395.1:c.291G>A, NM_001257396.2:c.174G>A, NM_001257396.1:c.174G>A, NR_047554.2:n.173G>A, NR_047554.1:n.221G>A, NM_003349.4:c.522G>A, NM_199203.3:c.969G>A, NM_199203.2:c.969G>A, NM_003349.3:c.522G>A, NR_047553.1:n.805G>A, NR_047555.1:n.644G>A, NR_047556.1:n.422G>A, NM_003349.1:c.522G>A

                                      19.

                                      rs1268518618 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:50082778 (GRCh38)
                                        20:48699315 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:50082777:T:C
                                        Gene:
                                        UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000020.11:g.50082778T>C, NC_000020.10:g.48699315T>C, NG_029526.2:g.38180A>G, NM_021988.6:c.503A>G, NM_021988.5:c.503A>G, NM_022442.6:c.302A>G, NM_022442.5:c.302A>G, NM_001282575.3:c.266A>G, NM_001282575.2:c.266A>G, NM_001282575.1:c.266A>G, NM_199144.3:c.503A>G, NM_199144.2:c.503A>G, NM_001282578.3:c.266A>G, NM_001282578.2:c.266A>G, NM_001282578.1:c.266A>G, NM_001282577.3:c.266A>G, NM_001282577.2:c.266A>G, NM_001282577.1:c.266A>G, NM_001032288.3:c.434A>G, NM_001032288.2:c.434A>G, NM_001257394.2:c.302A>G, NM_001257394.1:c.302A>G, NM_001282576.2:c.308A>G, NM_001282576.1:c.308A>G, NM_001257393.2:c.503A>G, NM_001257393.1:c.503A>G, NM_001257398.2:c.308A>G, NM_001257398.1:c.308A>G, NM_001257399.2:c.308A>G, NM_001257399.1:c.308A>G, NM_001282579.2:c.308A>G, NM_001282579.1:c.308A>G, NM_001257397.2:c.308A>G, NM_001257397.1:c.308A>G, NM_001257395.2:c.425A>G, NM_001257395.1:c.425A>G, NM_001257396.2:c.308A>G, NM_001257396.1:c.308A>G, NR_047554.2:n.307A>G, NR_047554.1:n.355A>G, NM_003349.4:c.656A>G, NM_199203.3:c.1103A>G, NM_199203.2:c.1103A>G, NM_003349.3:c.656A>G, NR_047553.1:n.939A>G, NR_047555.1:n.778A>G, NR_047556.1:n.556A>G, NM_003349.1:c.656A>G, NP_068823.2:p.Tyr168Cys, NP_071887.1:p.Tyr101Cys, NP_001269504.1:p.Tyr89Cys, NP_954595.1:p.Tyr168Cys, NP_001269507.1:p.Tyr89Cys, NP_001269506.1:p.Tyr89Cys, NP_001027459.1:p.Tyr145Cys, NP_001244323.1:p.Tyr101Cys, NP_001269505.1:p.Tyr103Cys, NP_001244322.1:p.Tyr168Cys, NP_001244327.1:p.Tyr103Cys, NP_001244328.1:p.Tyr103Cys, NP_001269508.1:p.Tyr103Cys, NP_001244326.1:p.Tyr103Cys, NP_001244324.1:p.Tyr142Cys, NP_001244325.1:p.Tyr103Cys, NP_954673.2:p.Tyr368Cys

                                        20.

                                        rs1261849365 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:50084219 (GRCh38)
                                          20:48700756 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:50084218:T:C
                                          Gene:
                                          UBE2V1 (Varview), PEDS1-UBE2V1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000020.11:g.50084219T>C, NC_000020.10:g.48700756T>C, NG_029526.2:g.36739A>G, NM_021988.6:c.276A>G, NM_021988.5:c.276A>G, NM_022442.6:c.75A>G, NM_022442.5:c.75A>G, NM_001282575.3:c.39A>G, NM_001282575.2:c.39A>G, NM_001282575.1:c.39A>G, NM_199144.3:c.276A>G, NM_199144.2:c.276A>G, NM_001282578.3:c.39A>G, NM_001282578.2:c.39A>G, NM_001282578.1:c.39A>G, NM_001282577.3:c.39A>G, NM_001282577.2:c.39A>G, NM_001282577.1:c.39A>G, NM_001032288.3:c.207A>G, NM_001032288.2:c.207A>G, NM_001257394.2:c.75A>G, NM_001257394.1:c.75A>G, NM_001282576.2:c.81A>G, NM_001282576.1:c.81A>G, NM_001257393.2:c.276A>G, NM_001257393.1:c.276A>G, NM_001257398.2:c.81A>G, NM_001257398.1:c.81A>G, NM_001257399.2:c.81A>G, NM_001257399.1:c.81A>G, NM_001282579.2:c.81A>G, NM_001282579.1:c.81A>G, NM_001257397.2:c.81A>G, NM_001257397.1:c.81A>G, NM_001257395.2:c.198A>G, NM_001257395.1:c.198A>G, NR_047554.2:n.80A>G, NR_047554.1:n.128A>G, NM_003349.4:c.429A>G, NM_199203.3:c.876A>G, NM_199203.2:c.876A>G, NM_003349.3:c.429A>G, NR_047553.1:n.712A>G, NR_047555.1:n.551A>G, NR_047556.1:n.329A>G, NM_003349.1:c.429A>G, NP_068823.2:p.Ile92Met, NP_071887.1:p.Ile25Met, NP_001269504.1:p.Ile13Met, NP_954595.1:p.Ile92Met, NP_001269507.1:p.Ile13Met, NP_001269506.1:p.Ile13Met, NP_001027459.1:p.Ile69Met, NP_001244323.1:p.Ile25Met, NP_001269505.1:p.Ile27Met, NP_001244322.1:p.Ile92Met, NP_001244327.1:p.Ile27Met, NP_001244328.1:p.Ile27Met, NP_001269508.1:p.Ile27Met, NP_001244326.1:p.Ile27Met, NP_001244324.1:p.Ile66Met, NP_954673.2:p.Ile292Met

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