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Items: 1 to 20 of 1000

1.

rs1489349485 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:362560 (GRCh38)
    10:408500 (GRCh37)
    Canonical SPDI:
    NC_000010.11:362559:G:A
    Gene:
    DIP2C (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.362560G>A, NC_000010.10:g.408500G>A, XM_005252428.5:c.2892C>T, XM_005252428.4:c.2892C>T, XM_005252428.3:c.2892C>T, XM_005252428.2:c.2892C>T, XM_005252428.1:c.2892C>T, XM_005252427.5:c.2724C>T, XM_005252427.4:c.2724C>T, XM_005252427.3:c.2724C>T, XM_005252427.2:c.2724C>T, XM_005252427.1:c.2724C>T, XM_011519429.4:c.2904C>T, XM_011519429.3:c.2904C>T, XM_011519429.2:c.2904C>T, XM_011519429.1:c.2904C>T, XM_005252426.4:c.2892C>T, XM_005252426.3:c.2892C>T, XM_005252426.2:c.2892C>T, XM_005252426.1:c.2892C>T, XM_011519433.4:c.687C>T, XM_011519433.3:c.687C>T, XM_011519433.2:c.687C>T, XM_011519433.1:c.687C>T, XM_005252430.4:c.813C>T, XM_005252430.3:c.1035C>T, XM_005252430.2:c.1035C>T, XM_005252430.1:c.813C>T, XM_011519432.3:c.2403C>T, XM_011519432.2:c.2403C>T, XM_011519432.1:c.2403C>T, XM_011519431.3:c.2736C>T, XM_011519431.2:c.2736C>T, XM_011519431.1:c.2736C>T, NM_014974.3:c.2724C>T, NM_014974.2:c.2724C>T

    2.

    rs1488471744 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:513479 (GRCh38)
      10:559419 (GRCh37)
      Canonical SPDI:
      NC_000010.11:513478:C:T
      Gene:
      DIP2C (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1486172663 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:348724 (GRCh38)
        10:394664 (GRCh37)
        Canonical SPDI:
        NC_000010.11:348723:C:T
        Gene:
        DIP2C (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000082/3 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000014/2 (GnomAD)
        T=0.000446/2 (Estonian)
        HGVS:
        NC_000010.11:g.348724C>T, NC_000010.10:g.394664C>T, XM_005252428.5:c.3316G>A, XM_005252428.4:c.3316G>A, XM_005252428.3:c.3316G>A, XM_005252428.2:c.3316G>A, XM_005252428.1:c.3316G>A, XM_005252427.5:c.3148G>A, XM_005252427.4:c.3148G>A, XM_005252427.3:c.3148G>A, XM_005252427.2:c.3148G>A, XM_005252427.1:c.3148G>A, XM_011519429.4:c.3328G>A, XM_011519429.3:c.3328G>A, XM_011519429.2:c.3328G>A, XM_011519429.1:c.3328G>A, XM_005252426.4:c.3316G>A, XM_005252426.3:c.3316G>A, XM_005252426.2:c.3316G>A, XM_005252426.1:c.3316G>A, XM_011519433.4:c.1111G>A, XM_011519433.3:c.1111G>A, XM_011519433.2:c.1111G>A, XM_011519433.1:c.1111G>A, XM_005252430.4:c.1237G>A, XM_005252430.3:c.1459G>A, XM_005252430.2:c.1459G>A, XM_005252430.1:c.1237G>A, XM_011519432.3:c.2827G>A, XM_011519432.2:c.2827G>A, XM_011519432.1:c.2827G>A, XM_011519431.3:c.3160G>A, XM_011519431.2:c.3160G>A, XM_011519431.1:c.3160G>A, NM_014974.3:c.3148G>A, NM_014974.2:c.3148G>A, XP_005252485.1:p.Ala1106Thr, XP_005252484.1:p.Ala1050Thr, XP_011517731.1:p.Ala1110Thr, XP_005252483.1:p.Ala1106Thr, XP_011517735.1:p.Ala371Thr, XP_005252487.3:p.Ala413Thr, XP_011517734.1:p.Ala943Thr, XP_011517733.1:p.Ala1054Thr, NP_055789.1:p.Ala1050Thr

        4.

        rs1485690168 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          10:422867 (GRCh38)
          10:468807 (GRCh37)
          Canonical SPDI:
          NC_000010.11:422866:C:T
          Gene:
          DIP2C (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000051/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1485067164 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:422920 (GRCh38)
            10:468860 (GRCh37)
            Canonical SPDI:
            NC_000010.11:422919:C:T
            Gene:
            DIP2C (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.422920C>T, NC_000010.10:g.468860C>T, XM_005252428.5:c.676G>A, XM_005252428.4:c.676G>A, XM_005252428.3:c.676G>A, XM_005252428.2:c.676G>A, XM_005252428.1:c.676G>A, XM_005252427.5:c.508G>A, XM_005252427.4:c.508G>A, XM_005252427.3:c.508G>A, XM_005252427.2:c.508G>A, XM_005252427.1:c.508G>A, XM_011519429.4:c.688G>A, XM_011519429.3:c.688G>A, XM_011519429.2:c.688G>A, XM_011519429.1:c.688G>A, XM_005252426.4:c.676G>A, XM_005252426.3:c.676G>A, XM_005252426.2:c.676G>A, XM_005252426.1:c.676G>A, XM_011519432.3:c.187G>A, XM_011519432.2:c.187G>A, XM_011519432.1:c.187G>A, XM_011519431.3:c.520G>A, XM_011519431.2:c.520G>A, XM_011519431.1:c.520G>A, NM_014974.3:c.508G>A, NM_014974.2:c.508G>A, XP_005252485.1:p.Gly226Ser, XP_005252484.1:p.Gly170Ser, XP_011517731.1:p.Gly230Ser, XP_005252483.1:p.Gly226Ser, XP_011517734.1:p.Gly63Ser, XP_011517733.1:p.Gly174Ser, NP_055789.1:p.Gly170Ser

            6.

            rs1484609844 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:408948 (GRCh38)
              10:454888 (GRCh37)
              Canonical SPDI:
              NC_000010.11:408947:G:A
              Gene:
              DIP2C (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              A=0.000035/1 (TOMMO)
              HGVS:
              NC_000010.11:g.408948G>A, NC_000010.10:g.454888G>A, XM_005252428.5:c.1295C>T, XM_005252428.4:c.1295C>T, XM_005252428.3:c.1295C>T, XM_005252428.2:c.1295C>T, XM_005252428.1:c.1295C>T, XM_005252427.5:c.1127C>T, XM_005252427.4:c.1127C>T, XM_005252427.3:c.1127C>T, XM_005252427.2:c.1127C>T, XM_005252427.1:c.1127C>T, XM_011519429.4:c.1307C>T, XM_011519429.3:c.1307C>T, XM_011519429.2:c.1307C>T, XM_011519429.1:c.1307C>T, XM_005252426.4:c.1295C>T, XM_005252426.3:c.1295C>T, XM_005252426.2:c.1295C>T, XM_005252426.1:c.1295C>T, XM_011519432.3:c.806C>T, XM_011519432.2:c.806C>T, XM_011519432.1:c.806C>T, XM_011519431.3:c.1139C>T, XM_011519431.2:c.1139C>T, XM_011519431.1:c.1139C>T, NM_014974.3:c.1127C>T, NM_014974.2:c.1127C>T, XP_005252485.1:p.Pro432Leu, XP_005252484.1:p.Pro376Leu, XP_011517731.1:p.Pro436Leu, XP_005252483.1:p.Pro432Leu, XP_011517734.1:p.Pro269Leu, XP_011517733.1:p.Pro380Leu, NP_055789.1:p.Pro376Leu

              7.

              rs1484389270 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:399180 (GRCh38)
                10:445120 (GRCh37)
                Canonical SPDI:
                NC_000010.11:399179:T:C
                Gene:
                DIP2C (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.399180T>C, NC_000010.10:g.445120T>C, XM_005252428.5:c.1357A>G, XM_005252428.4:c.1357A>G, XM_005252428.3:c.1357A>G, XM_005252428.2:c.1357A>G, XM_005252428.1:c.1357A>G, XM_005252427.5:c.1189A>G, XM_005252427.4:c.1189A>G, XM_005252427.3:c.1189A>G, XM_005252427.2:c.1189A>G, XM_005252427.1:c.1189A>G, XM_011519429.4:c.1369A>G, XM_011519429.3:c.1369A>G, XM_011519429.2:c.1369A>G, XM_011519429.1:c.1369A>G, XM_005252426.4:c.1357A>G, XM_005252426.3:c.1357A>G, XM_005252426.2:c.1357A>G, XM_005252426.1:c.1357A>G, XM_011519432.3:c.868A>G, XM_011519432.2:c.868A>G, XM_011519432.1:c.868A>G, XM_011519431.3:c.1201A>G, XM_011519431.2:c.1201A>G, XM_011519431.1:c.1201A>G, NM_014974.3:c.1189A>G, NM_014974.2:c.1189A>G, XP_005252485.1:p.Met453Val, XP_005252484.1:p.Met397Val, XP_011517731.1:p.Met457Val, XP_005252483.1:p.Met453Val, XP_011517734.1:p.Met290Val, XP_011517733.1:p.Met401Val, NP_055789.1:p.Met397Val

                8.

                rs1484245093 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:390781 (GRCh38)
                  10:436721 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:390780:C:T
                  Gene:
                  DIP2C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.390781C>T, NC_000010.10:g.436721C>T, XM_005252428.5:c.1511G>A, XM_005252428.4:c.1511G>A, XM_005252428.3:c.1511G>A, XM_005252428.2:c.1511G>A, XM_005252428.1:c.1511G>A, XM_005252427.5:c.1343G>A, XM_005252427.4:c.1343G>A, XM_005252427.3:c.1343G>A, XM_005252427.2:c.1343G>A, XM_005252427.1:c.1343G>A, XM_011519429.4:c.1523G>A, XM_011519429.3:c.1523G>A, XM_011519429.2:c.1523G>A, XM_011519429.1:c.1523G>A, XM_005252426.4:c.1511G>A, XM_005252426.3:c.1511G>A, XM_005252426.2:c.1511G>A, XM_005252426.1:c.1511G>A, XM_011519432.3:c.1022G>A, XM_011519432.2:c.1022G>A, XM_011519432.1:c.1022G>A, XM_011519431.3:c.1355G>A, XM_011519431.2:c.1355G>A, XM_011519431.1:c.1355G>A, NM_014974.3:c.1343G>A, NM_014974.2:c.1343G>A, XP_005252485.1:p.Gly504Glu, XP_005252484.1:p.Gly448Glu, XP_011517731.1:p.Gly508Glu, XP_005252483.1:p.Gly504Glu, XP_011517734.1:p.Gly341Glu, XP_011517733.1:p.Gly452Glu, NP_055789.1:p.Gly448Glu

                  9.

                  rs1482172176 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    10:422910 (GRCh38)
                    10:468850 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:422909:G:A,NC_000010.11:422909:G:C
                    Gene:
                    DIP2C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.422910G>A, NC_000010.11:g.422910G>C, NC_000010.10:g.468850G>A, NC_000010.10:g.468850G>C, XM_005252428.5:c.686C>T, XM_005252428.5:c.686C>G, XM_005252428.4:c.686C>T, XM_005252428.4:c.686C>G, XM_005252428.3:c.686C>T, XM_005252428.3:c.686C>G, XM_005252428.2:c.686C>T, XM_005252428.2:c.686C>G, XM_005252428.1:c.686C>T, XM_005252428.1:c.686C>G, XM_005252427.5:c.518C>T, XM_005252427.5:c.518C>G, XM_005252427.4:c.518C>T, XM_005252427.4:c.518C>G, XM_005252427.3:c.518C>T, XM_005252427.3:c.518C>G, XM_005252427.2:c.518C>T, XM_005252427.2:c.518C>G, XM_005252427.1:c.518C>T, XM_005252427.1:c.518C>G, XM_011519429.4:c.698C>T, XM_011519429.4:c.698C>G, XM_011519429.3:c.698C>T, XM_011519429.3:c.698C>G, XM_011519429.2:c.698C>T, XM_011519429.2:c.698C>G, XM_011519429.1:c.698C>T, XM_011519429.1:c.698C>G, XM_005252426.4:c.686C>T, XM_005252426.4:c.686C>G, XM_005252426.3:c.686C>T, XM_005252426.3:c.686C>G, XM_005252426.2:c.686C>T, XM_005252426.2:c.686C>G, XM_005252426.1:c.686C>T, XM_005252426.1:c.686C>G, XM_011519432.3:c.197C>T, XM_011519432.3:c.197C>G, XM_011519432.2:c.197C>T, XM_011519432.2:c.197C>G, XM_011519432.1:c.197C>T, XM_011519432.1:c.197C>G, XM_011519431.3:c.530C>T, XM_011519431.3:c.530C>G, XM_011519431.2:c.530C>T, XM_011519431.2:c.530C>G, XM_011519431.1:c.530C>T, XM_011519431.1:c.530C>G, NM_014974.3:c.518C>T, NM_014974.3:c.518C>G, NM_014974.2:c.518C>T, NM_014974.2:c.518C>G, XP_005252485.1:p.Thr229Met, XP_005252485.1:p.Thr229Arg, XP_005252484.1:p.Thr173Met, XP_005252484.1:p.Thr173Arg, XP_011517731.1:p.Thr233Met, XP_011517731.1:p.Thr233Arg, XP_005252483.1:p.Thr229Met, XP_005252483.1:p.Thr229Arg, XP_011517734.1:p.Thr66Met, XP_011517734.1:p.Thr66Arg, XP_011517733.1:p.Thr177Met, XP_011517733.1:p.Thr177Arg, NP_055789.1:p.Thr173Met, NP_055789.1:p.Thr173Arg

                    10.

                    rs1481876015 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      10:408926 (GRCh38)
                      10:454866 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:408925:C:T
                      Gene:
                      DIP2C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1480809301 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:390068 (GRCh38)
                        10:436008 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:390067:A:G
                        Gene:
                        DIP2C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.390068A>G, NC_000010.10:g.436008A>G, XM_005252428.5:c.1688T>C, XM_005252428.4:c.1688T>C, XM_005252428.3:c.1688T>C, XM_005252428.2:c.1688T>C, XM_005252428.1:c.1688T>C, XM_005252427.5:c.1520T>C, XM_005252427.4:c.1520T>C, XM_005252427.3:c.1520T>C, XM_005252427.2:c.1520T>C, XM_005252427.1:c.1520T>C, XM_011519429.4:c.1700T>C, XM_011519429.3:c.1700T>C, XM_011519429.2:c.1700T>C, XM_011519429.1:c.1700T>C, XM_005252426.4:c.1688T>C, XM_005252426.3:c.1688T>C, XM_005252426.2:c.1688T>C, XM_005252426.1:c.1688T>C, XM_011519432.3:c.1199T>C, XM_011519432.2:c.1199T>C, XM_011519432.1:c.1199T>C, XM_011519431.3:c.1532T>C, XM_011519431.2:c.1532T>C, XM_011519431.1:c.1532T>C, NM_014974.3:c.1520T>C, NM_014974.2:c.1520T>C, XP_005252485.1:p.Val563Ala, XP_005252484.1:p.Val507Ala, XP_011517731.1:p.Val567Ala, XP_005252483.1:p.Val563Ala, XP_011517734.1:p.Val400Ala, XP_011517733.1:p.Val511Ala, NP_055789.1:p.Val507Ala

                        12.

                        rs1480753177 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:288379 (GRCh38)
                          10:334319 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:288378:C:T
                          Gene:
                          DIP2C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.288379C>T, NC_000010.10:g.334319C>T, XM_005252428.5:c.4227G>A, XM_005252428.4:c.4227G>A, XM_005252428.3:c.4227G>A, XM_005252428.2:c.4227G>A, XM_005252428.1:c.4227G>A, XM_005252427.5:c.4059G>A, XM_005252427.4:c.4059G>A, XM_005252427.3:c.4059G>A, XM_005252427.2:c.4059G>A, XM_005252427.1:c.4059G>A, XM_011519429.4:c.4209G>A, XM_011519429.3:c.4209G>A, XM_011519429.2:c.4209G>A, XM_011519429.1:c.4209G>A, XM_005252426.4:c.4197G>A, XM_005252426.3:c.4197G>A, XM_005252426.2:c.4197G>A, XM_005252426.1:c.4197G>A, XM_011519433.4:c.2022G>A, XM_011519433.3:c.2022G>A, XM_011519433.2:c.2022G>A, XM_011519433.1:c.2022G>A, XM_005252430.4:c.2118G>A, XM_005252430.3:c.2340G>A, XM_005252430.2:c.2340G>A, XM_005252430.1:c.2118G>A, XM_011519432.3:c.3738G>A, XM_011519432.2:c.3738G>A, XM_011519432.1:c.3738G>A, XM_011519431.3:c.4041G>A, XM_011519431.2:c.4041G>A, XM_011519431.1:c.4041G>A, NM_014974.3:c.4029G>A, NM_014974.2:c.4029G>A

                          13.

                          rs1480406181 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:366284 (GRCh38)
                            10:412224 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:366283:G:A
                            Gene:
                            DIP2C (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000010.11:g.366284G>A, NC_000010.10:g.412224G>A, XM_005252428.5:c.2427C>T, XM_005252428.4:c.2427C>T, XM_005252428.3:c.2427C>T, XM_005252428.2:c.2427C>T, XM_005252428.1:c.2427C>T, XM_005252427.5:c.2259C>T, XM_005252427.4:c.2259C>T, XM_005252427.3:c.2259C>T, XM_005252427.2:c.2259C>T, XM_005252427.1:c.2259C>T, XM_011519429.4:c.2439C>T, XM_011519429.3:c.2439C>T, XM_011519429.2:c.2439C>T, XM_011519429.1:c.2439C>T, XM_005252426.4:c.2427C>T, XM_005252426.3:c.2427C>T, XM_005252426.2:c.2427C>T, XM_005252426.1:c.2427C>T, XM_011519433.4:c.222C>T, XM_011519433.3:c.222C>T, XM_011519433.2:c.222C>T, XM_011519433.1:c.222C>T, XM_005252430.4:c.348C>T, XM_005252430.3:c.570C>T, XM_005252430.2:c.570C>T, XM_005252430.1:c.348C>T, XM_011519432.3:c.1938C>T, XM_011519432.2:c.1938C>T, XM_011519432.1:c.1938C>T, XM_011519431.3:c.2271C>T, XM_011519431.2:c.2271C>T, XM_011519431.1:c.2271C>T, NM_014974.3:c.2259C>T, NM_014974.2:c.2259C>T

                            14.

                            rs1478470719 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:277392 (GRCh38)
                              10:323332 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:277391:C:T
                              Gene:
                              DIP2C (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.277392C>T, NC_000010.10:g.323332C>T, XM_005252428.5:c.4802G>A, XM_005252428.4:c.4802G>A, XM_005252428.3:c.4802G>A, XM_005252428.2:c.4802G>A, XM_005252428.1:c.4802G>A, XM_005252427.5:c.4634G>A, XM_005252427.4:c.4634G>A, XM_005252427.3:c.4634G>A, XM_005252427.2:c.4634G>A, XM_005252427.1:c.4634G>A, XM_011519429.4:c.4784G>A, XM_011519429.3:c.4784G>A, XM_011519429.2:c.4784G>A, XM_011519429.1:c.4784G>A, XM_005252426.4:c.4772G>A, XM_005252426.3:c.4772G>A, XM_005252426.2:c.4772G>A, XM_005252426.1:c.4772G>A, XM_011519433.4:c.2597G>A, XM_011519433.3:c.2597G>A, XM_011519433.2:c.2597G>A, XM_011519433.1:c.2597G>A, XM_005252430.4:c.2693G>A, XM_005252430.3:c.2915G>A, XM_005252430.2:c.2915G>A, XM_005252430.1:c.2693G>A, XM_011519432.3:c.4313G>A, XM_011519432.2:c.4313G>A, XM_011519432.1:c.4313G>A, XM_011519431.3:c.4616G>A, XM_011519431.2:c.4616G>A, XM_011519431.1:c.4616G>A, NM_014974.3:c.4604G>A, NM_014974.2:c.4604G>A, XP_005252485.1:p.Arg1601His, XP_005252484.1:p.Arg1545His, XP_011517731.1:p.Arg1595His, XP_005252483.1:p.Arg1591His, XP_011517735.1:p.Arg866His, XP_005252487.3:p.Arg898His, XP_011517734.1:p.Arg1438His, XP_011517733.1:p.Arg1539His, NP_055789.1:p.Arg1535His

                              15.

                              rs1478446925 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:413927 (GRCh38)
                                10:459867 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:413926:T:C
                                Gene:
                                DIP2C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.413927T>C, NC_000010.10:g.459867T>C, XM_005252428.5:c.1211A>G, XM_005252428.4:c.1211A>G, XM_005252428.3:c.1211A>G, XM_005252428.2:c.1211A>G, XM_005252428.1:c.1211A>G, XM_005252427.5:c.1043A>G, XM_005252427.4:c.1043A>G, XM_005252427.3:c.1043A>G, XM_005252427.2:c.1043A>G, XM_005252427.1:c.1043A>G, XM_011519429.4:c.1223A>G, XM_011519429.3:c.1223A>G, XM_011519429.2:c.1223A>G, XM_011519429.1:c.1223A>G, XM_005252426.4:c.1211A>G, XM_005252426.3:c.1211A>G, XM_005252426.2:c.1211A>G, XM_005252426.1:c.1211A>G, XM_011519432.3:c.722A>G, XM_011519432.2:c.722A>G, XM_011519432.1:c.722A>G, XM_011519431.3:c.1055A>G, XM_011519431.2:c.1055A>G, XM_011519431.1:c.1055A>G, NM_014974.3:c.1043A>G, NM_014974.2:c.1043A>G, XP_005252485.1:p.Tyr404Cys, XP_005252484.1:p.Tyr348Cys, XP_011517731.1:p.Tyr408Cys, XP_005252483.1:p.Tyr404Cys, XP_011517734.1:p.Tyr241Cys, XP_011517733.1:p.Tyr352Cys, NP_055789.1:p.Tyr348Cys

                                16.

                                rs1476468047 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  10:349444 (GRCh38)
                                  10:395384 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:349443:G:A
                                  Gene:
                                  DIP2C (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000019/5 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.349444G>A, NC_000010.10:g.395384G>A, XM_005252428.5:c.3164C>T, XM_005252428.4:c.3164C>T, XM_005252428.3:c.3164C>T, XM_005252428.2:c.3164C>T, XM_005252428.1:c.3164C>T, XM_005252427.5:c.2996C>T, XM_005252427.4:c.2996C>T, XM_005252427.3:c.2996C>T, XM_005252427.2:c.2996C>T, XM_005252427.1:c.2996C>T, XM_011519429.4:c.3176C>T, XM_011519429.3:c.3176C>T, XM_011519429.2:c.3176C>T, XM_011519429.1:c.3176C>T, XM_005252426.4:c.3164C>T, XM_005252426.3:c.3164C>T, XM_005252426.2:c.3164C>T, XM_005252426.1:c.3164C>T, XM_011519433.4:c.959C>T, XM_011519433.3:c.959C>T, XM_011519433.2:c.959C>T, XM_011519433.1:c.959C>T, XM_005252430.4:c.1085C>T, XM_005252430.3:c.1307C>T, XM_005252430.2:c.1307C>T, XM_005252430.1:c.1085C>T, XM_011519432.3:c.2675C>T, XM_011519432.2:c.2675C>T, XM_011519432.1:c.2675C>T, XM_011519431.3:c.3008C>T, XM_011519431.2:c.3008C>T, XM_011519431.1:c.3008C>T, NM_014974.3:c.2996C>T, NM_014974.2:c.2996C>T, XP_005252485.1:p.Ala1055Val, XP_005252484.1:p.Ala999Val, XP_011517731.1:p.Ala1059Val, XP_005252483.1:p.Ala1055Val, XP_011517735.1:p.Ala320Val, XP_005252487.3:p.Ala362Val, XP_011517734.1:p.Ala892Val, XP_011517733.1:p.Ala1003Val, NP_055789.1:p.Ala999Val

                                  17.

                                  rs1475915459 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    10:422875 (GRCh38)
                                    10:468815 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:422874:C:A
                                    Gene:
                                    DIP2C (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.422875C>A, NC_000010.10:g.468815C>A, XM_005252428.5:c.721G>T, XM_005252428.4:c.721G>T, XM_005252428.3:c.721G>T, XM_005252428.2:c.721G>T, XM_005252428.1:c.721G>T, XM_005252427.5:c.553G>T, XM_005252427.4:c.553G>T, XM_005252427.3:c.553G>T, XM_005252427.2:c.553G>T, XM_005252427.1:c.553G>T, XM_011519429.4:c.733G>T, XM_011519429.3:c.733G>T, XM_011519429.2:c.733G>T, XM_011519429.1:c.733G>T, XM_005252426.4:c.721G>T, XM_005252426.3:c.721G>T, XM_005252426.2:c.721G>T, XM_005252426.1:c.721G>T, XM_011519432.3:c.232G>T, XM_011519432.2:c.232G>T, XM_011519432.1:c.232G>T, XM_011519431.3:c.565G>T, XM_011519431.2:c.565G>T, XM_011519431.1:c.565G>T, NM_014974.3:c.553G>T, NM_014974.2:c.553G>T, XP_005252485.1:p.Gly241Cys, XP_005252484.1:p.Gly185Cys, XP_011517731.1:p.Gly245Cys, XP_005252483.1:p.Gly241Cys, XP_011517734.1:p.Gly78Cys, XP_011517733.1:p.Gly189Cys, NP_055789.1:p.Gly185Cys

                                    18.

                                    rs1475640734 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      10:414043 (GRCh38)
                                      10:459983 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:414042:C:G,NC_000010.11:414042:C:T
                                      Gene:
                                      DIP2C (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.414043C>G, NC_000010.11:g.414043C>T, NC_000010.10:g.459983C>G, NC_000010.10:g.459983C>T, XM_005252428.5:c.1095G>C, XM_005252428.5:c.1095G>A, XM_005252428.4:c.1095G>C, XM_005252428.4:c.1095G>A, XM_005252428.3:c.1095G>C, XM_005252428.3:c.1095G>A, XM_005252428.2:c.1095G>C, XM_005252428.2:c.1095G>A, XM_005252428.1:c.1095G>C, XM_005252428.1:c.1095G>A, XM_005252427.5:c.927G>C, XM_005252427.5:c.927G>A, XM_005252427.4:c.927G>C, XM_005252427.4:c.927G>A, XM_005252427.3:c.927G>C, XM_005252427.3:c.927G>A, XM_005252427.2:c.927G>C, XM_005252427.2:c.927G>A, XM_005252427.1:c.927G>C, XM_005252427.1:c.927G>A, XM_011519429.4:c.1107G>C, XM_011519429.4:c.1107G>A, XM_011519429.3:c.1107G>C, XM_011519429.3:c.1107G>A, XM_011519429.2:c.1107G>C, XM_011519429.2:c.1107G>A, XM_011519429.1:c.1107G>C, XM_011519429.1:c.1107G>A, XM_005252426.4:c.1095G>C, XM_005252426.4:c.1095G>A, XM_005252426.3:c.1095G>C, XM_005252426.3:c.1095G>A, XM_005252426.2:c.1095G>C, XM_005252426.2:c.1095G>A, XM_005252426.1:c.1095G>C, XM_005252426.1:c.1095G>A, XM_011519432.3:c.606G>C, XM_011519432.3:c.606G>A, XM_011519432.2:c.606G>C, XM_011519432.2:c.606G>A, XM_011519432.1:c.606G>C, XM_011519432.1:c.606G>A, XM_011519431.3:c.939G>C, XM_011519431.3:c.939G>A, XM_011519431.2:c.939G>C, XM_011519431.2:c.939G>A, XM_011519431.1:c.939G>C, XM_011519431.1:c.939G>A, NM_014974.3:c.927G>C, NM_014974.3:c.927G>A, NM_014974.2:c.927G>C, NM_014974.2:c.927G>A, XP_005252485.1:p.Gln365His, XP_005252484.1:p.Gln309His, XP_011517731.1:p.Gln369His, XP_005252483.1:p.Gln365His, XP_011517734.1:p.Gln202His, XP_011517733.1:p.Gln313His, NP_055789.1:p.Gln309His

                                      19.

                                      rs1475385758 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        10:362579 (GRCh38)
                                        10:408519 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:362578:A:T
                                        Gene:
                                        DIP2C (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.362579A>T, NC_000010.10:g.408519A>T, XM_005252428.5:c.2873T>A, XM_005252428.4:c.2873T>A, XM_005252428.3:c.2873T>A, XM_005252428.2:c.2873T>A, XM_005252428.1:c.2873T>A, XM_005252427.5:c.2705T>A, XM_005252427.4:c.2705T>A, XM_005252427.3:c.2705T>A, XM_005252427.2:c.2705T>A, XM_005252427.1:c.2705T>A, XM_011519429.4:c.2885T>A, XM_011519429.3:c.2885T>A, XM_011519429.2:c.2885T>A, XM_011519429.1:c.2885T>A, XM_005252426.4:c.2873T>A, XM_005252426.3:c.2873T>A, XM_005252426.2:c.2873T>A, XM_005252426.1:c.2873T>A, XM_011519433.4:c.668T>A, XM_011519433.3:c.668T>A, XM_011519433.2:c.668T>A, XM_011519433.1:c.668T>A, XM_005252430.4:c.794T>A, XM_005252430.3:c.1016T>A, XM_005252430.2:c.1016T>A, XM_005252430.1:c.794T>A, XM_011519432.3:c.2384T>A, XM_011519432.2:c.2384T>A, XM_011519432.1:c.2384T>A, XM_011519431.3:c.2717T>A, XM_011519431.2:c.2717T>A, XM_011519431.1:c.2717T>A, NM_014974.3:c.2705T>A, NM_014974.2:c.2705T>A, XP_005252485.1:p.Phe958Tyr, XP_005252484.1:p.Phe902Tyr, XP_011517731.1:p.Phe962Tyr, XP_005252483.1:p.Phe958Tyr, XP_011517735.1:p.Phe223Tyr, XP_005252487.3:p.Phe265Tyr, XP_011517734.1:p.Phe795Tyr, XP_011517733.1:p.Phe906Tyr, NP_055789.1:p.Phe902Tyr

                                        20.

                                        rs1474776868 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          10:486475 (GRCh38)
                                          10:532415 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:486474:G:A
                                          Gene:
                                          DIP2C (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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