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Items: 1 to 20 of 591

1.

rs1490920078 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    11:68171608 (GRCh38)
    11:67939075 (GRCh37)
    Canonical SPDI:
    NC_000011.10:68171607:A:C
    Gene:
    KMT5B (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.68171608A>C, NC_000011.9:g.67939075A>C, NG_052873.1:g.47165T>G, NM_017635.5:c.755T>G, NM_017635.4:c.755T>G, NM_017635.3:c.755T>G, NM_016028.4:c.755T>G, NM_001300908.2:c.35T>G, NM_001300908.1:c.35T>G, NM_001300909.2:c.686T>G, NM_001300909.1:c.686T>G, NM_001363566.2:c.755T>G, NM_001363566.1:c.755T>G, NM_001369433.1:c.239T>G, NM_001369428.1:c.239T>G, NM_001369432.1:c.239T>G, NM_001369431.1:c.239T>G, NM_001300907.1:c.239T>G, NM_001369426.1:c.755T>G, NM_001369430.1:c.239T>G, NM_001369429.1:c.239T>G, NR_161380.1:n.1364T>G, NM_001369424.1:c.239T>G, NR_161378.1:n.1003T>G, NM_001369427.1:c.755T>G, NM_001369425.1:c.542T>G, XM_005274035.5:c.755T>G, XM_005274035.4:c.755T>G, XM_005274035.3:c.755T>G, XM_005274035.2:c.755T>G, XM_005274035.1:c.755T>G, XM_005274036.5:c.686T>G, XM_005274036.4:c.686T>G, XM_005274036.3:c.686T>G, XM_005274036.2:c.686T>G, XM_005274036.1:c.686T>G, XM_011545092.4:c.542T>G, XM_011545092.3:c.542T>G, XM_011545092.2:c.542T>G, XM_011545092.1:c.542T>G, XM_006718581.2:c.686T>G, XM_006718581.1:c.686T>G, XM_024448570.2:c.-533T>G, XM_024448570.1:c.-533T>G, XM_047427071.1:c.755T>G, XM_047427072.1:c.473T>G, NP_060105.3:p.Val252Gly, NP_057112.3:p.Val252Gly, NP_001287837.1:p.Val12Gly, NP_001287838.1:p.Val229Gly, NP_001350495.1:p.Val252Gly, NP_001356362.1:p.Val80Gly, NP_001356357.1:p.Val80Gly, NP_001356361.1:p.Val80Gly, NP_001356360.1:p.Val80Gly, NP_001287836.1:p.Val80Gly, NP_001356355.1:p.Val252Gly, NP_001356359.1:p.Val80Gly, NP_001356358.1:p.Val80Gly, NP_001356353.1:p.Val80Gly, NP_001356356.1:p.Val252Gly, NP_001356354.1:p.Val181Gly, XP_005274092.2:p.Val252Gly, XP_005274093.2:p.Val229Gly, XP_011543394.1:p.Val181Gly, XP_006718644.1:p.Val229Gly, XP_047283027.1:p.Val252Gly, XP_047283028.1:p.Val158Gly

    2.

    rs1490753733 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      11:68213232 (GRCh38)
      11:67980699 (GRCh37)
      Canonical SPDI:
      NC_000011.10:68213231:G:A,NC_000011.10:68213231:G:C
      Gene:
      KMT5B (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      A=0.000008/1 (GnomAD)
      A=0.000036/1 (TOMMO)
      A=0.000156/1 (1000Genomes)
      HGVS:

      3.

      rs1487093442 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        11:68171100 (GRCh38)
        11:67938567 (GRCh37)
        Canonical SPDI:
        NC_000011.10:68171099:C:A
        Gene:
        KMT5B (Varview)
        Functional Consequence:
        non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,stop_gained
        HGVS:
        NC_000011.10:g.68171100C>A, NC_000011.9:g.67938567C>A, NG_052873.1:g.47673G>T, NM_017635.5:c.892G>T, NM_017635.4:c.892G>T, NM_017635.3:c.892G>T, NM_016028.4:c.892G>T, NM_001300908.2:c.172G>T, NM_001300908.1:c.172G>T, NM_001300909.2:c.823G>T, NM_001300909.1:c.823G>T, NM_001363566.2:c.892G>T, NM_001363566.1:c.892G>T, NM_001369433.1:c.376G>T, NM_001369428.1:c.376G>T, NM_001369432.1:c.376G>T, NM_001369431.1:c.376G>T, NM_001300907.1:c.376G>T, NM_001369426.1:c.892G>T, NM_001369430.1:c.376G>T, NM_001369429.1:c.376G>T, NR_161380.1:n.1546G>T, NM_001369424.1:c.376G>T, NR_161378.1:n.1185G>T, NM_001369427.1:c.892G>T, NR_161379.1:n.973G>T, NM_001369425.1:c.679G>T, XM_005274035.5:c.892G>T, XM_005274035.4:c.892G>T, XM_005274035.3:c.892G>T, XM_005274035.2:c.892G>T, XM_005274035.1:c.892G>T, XM_005274036.5:c.823G>T, XM_005274036.4:c.823G>T, XM_005274036.3:c.823G>T, XM_005274036.2:c.823G>T, XM_005274036.1:c.823G>T, XM_011545092.4:c.679G>T, XM_011545092.3:c.679G>T, XM_011545092.2:c.679G>T, XM_011545092.1:c.679G>T, XM_006718581.2:c.823G>T, XM_006718581.1:c.823G>T, XM_024448570.2:c.-351G>T, XM_024448570.1:c.-351G>T, XM_047427071.1:c.892G>T, XM_047427072.1:c.610G>T, XM_047427073.1:c.-351G>T, NP_060105.3:p.Glu298Ter, NP_057112.3:p.Glu298Ter, NP_001287837.1:p.Glu58Ter, NP_001287838.1:p.Glu275Ter, NP_001350495.1:p.Glu298Ter, NP_001356362.1:p.Glu126Ter, NP_001356357.1:p.Glu126Ter, NP_001356361.1:p.Glu126Ter, NP_001356360.1:p.Glu126Ter, NP_001287836.1:p.Glu126Ter, NP_001356355.1:p.Glu298Ter, NP_001356359.1:p.Glu126Ter, NP_001356358.1:p.Glu126Ter, NP_001356353.1:p.Glu126Ter, NP_001356356.1:p.Glu298Ter, NP_001356354.1:p.Glu227Ter, XP_005274092.2:p.Glu298Ter, XP_005274093.2:p.Glu275Ter, XP_011543394.1:p.Glu227Ter, XP_006718644.1:p.Glu275Ter, XP_047283027.1:p.Glu298Ter, XP_047283028.1:p.Glu204Ter

        4.

        rs1486946490 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          11:68213313 (GRCh38)
          11:67980780 (GRCh37)
          Canonical SPDI:
          NC_000011.10:68213312:G:A,NC_000011.10:68213312:G:C
          Gene:
          KMT5B (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          G=0./0 (SGDP_PRJ)
          A=0.000015/4 (TOPMED)
          HGVS:

          5.

          rs1484766325 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:68165805 (GRCh38)
            11:67933272 (GRCh37)
            Canonical SPDI:
            NC_000011.10:68165804:A:G
            Gene:
            KMT5B (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1484103912 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAGT>- [Show Flanks]
              Chromosome:
              11:68166884 (GRCh38)
              11:67934351 (GRCh37)
              Canonical SPDI:
              NC_000011.10:68166882:TGAGT:T
              Gene:
              KMT5B (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1480524594 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:68166671 (GRCh38)
                11:67934138 (GRCh37)
                Canonical SPDI:
                NC_000011.10:68166670:C:T
                Gene:
                KMT5B (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1479866332 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  11:68213251 (GRCh38)
                  11:67980719 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:68213251:C:CC
                  Gene:
                  KMT5B (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1479743038 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:68175055 (GRCh38)
                    11:67942522 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:68175054:T:C
                    Gene:
                    KMT5B (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000011.10:g.68175055T>C, NC_000011.9:g.67942522T>C, NG_052873.1:g.43718A>G, NM_017635.5:c.506A>G, NM_017635.4:c.506A>G, NM_017635.3:c.506A>G, NM_016028.4:c.506A>G, NM_001300908.2:c.-162A>G, NM_001300908.1:c.-162A>G, NM_001300909.2:c.437A>G, NM_001300909.1:c.437A>G, NM_001363566.2:c.506A>G, NM_001363566.1:c.506A>G, NM_001369433.1:c.-11A>G, NM_001369428.1:c.-11A>G, NM_001369432.1:c.-11A>G, NM_001369431.1:c.-11A>G, NM_001300907.1:c.-11A>G, NM_001369426.1:c.506A>G, NM_001369430.1:c.-11A>G, NM_001369429.1:c.-11A>G, NR_161380.1:n.1115A>G, NM_001369424.1:c.-11A>G, NR_161378.1:n.754A>G, NM_001369427.1:c.506A>G, NR_161379.1:n.754A>G, NM_001369425.1:c.293A>G, XM_005274035.5:c.506A>G, XM_005274035.4:c.506A>G, XM_005274035.3:c.506A>G, XM_005274035.2:c.506A>G, XM_005274035.1:c.506A>G, XM_005274036.5:c.437A>G, XM_005274036.4:c.437A>G, XM_005274036.3:c.437A>G, XM_005274036.2:c.437A>G, XM_005274036.1:c.437A>G, XM_011545092.4:c.293A>G, XM_011545092.3:c.293A>G, XM_011545092.2:c.293A>G, XM_011545092.1:c.293A>G, XM_006718581.2:c.437A>G, XM_006718581.1:c.437A>G, XM_047427071.1:c.506A>G, XM_047427072.1:c.224A>G, NP_060105.3:p.Asn169Ser, NP_057112.3:p.Asn169Ser, NP_001287838.1:p.Asn146Ser, NP_001350495.1:p.Asn169Ser, NP_001356355.1:p.Asn169Ser, NP_001356356.1:p.Asn169Ser, NP_001356354.1:p.Asn98Ser, XP_005274092.2:p.Asn169Ser, XP_005274093.2:p.Asn146Ser, XP_011543394.1:p.Asn98Ser, XP_006718644.1:p.Asn146Ser, XP_047283027.1:p.Asn169Ser, XP_047283028.1:p.Asn75Ser

                    10.

                    rs1477868326 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:68213221 (GRCh38)
                      11:67980688 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:68213220:C:T
                      Gene:
                      KMT5B (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1476584844 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:68166069 (GRCh38)
                        11:67933536 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:68166068:G:A
                        Gene:
                        KMT5B (Varview)
                        Functional Consequence:
                        intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1476284581 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:68166778 (GRCh38)
                          11:67934245 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:68166777:C:G
                          Gene:
                          KMT5B (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant,non_coding_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:

                          13.

                          rs1475315160 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            11:68180162 (GRCh38)
                            11:67947629 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:68180161:G:A,NC_000011.10:68180161:G:C
                            Gene:
                            KMT5B (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.68180162G>A, NC_000011.10:g.68180162G>C, NC_000011.9:g.67947629G>A, NC_000011.9:g.67947629G>C, NG_052873.1:g.38611C>T, NG_052873.1:g.38611C>G, NM_017635.5:c.347C>T, NM_017635.5:c.347C>G, NM_017635.4:c.347C>T, NM_017635.4:c.347C>G, NM_017635.3:c.347C>T, NM_017635.3:c.347C>G, NM_016028.4:c.347C>T, NM_016028.4:c.347C>G, NM_001300908.2:c.-321C>T, NM_001300908.2:c.-321C>G, NM_001300908.1:c.-321C>T, NM_001300908.1:c.-321C>G, NM_001363566.2:c.347C>T, NM_001363566.2:c.347C>G, NM_001363566.1:c.347C>T, NM_001363566.1:c.347C>G, NM_001369433.1:c.-832C>T, NM_001369433.1:c.-832C>G, NM_001369428.1:c.-531C>T, NM_001369428.1:c.-531C>G, NM_001369432.1:c.-317C>T, NM_001369432.1:c.-317C>G, NM_001369431.1:c.-317C>T, NM_001369431.1:c.-317C>G, NM_001300907.1:c.-238C>T, NM_001300907.1:c.-238C>G, NM_001369426.1:c.347C>T, NM_001369426.1:c.347C>G, NM_001369429.1:c.-170C>T, NM_001369429.1:c.-170C>G, NR_161380.1:n.595C>T, NR_161380.1:n.595C>G, NM_001369424.1:c.-317C>T, NM_001369424.1:c.-317C>G, NR_161378.1:n.595C>T, NR_161378.1:n.595C>G, NM_001369427.1:c.347C>T, NM_001369427.1:c.347C>G, NR_161379.1:n.595C>T, NR_161379.1:n.595C>G, NM_001369425.1:c.134C>T, NM_001369425.1:c.134C>G, XM_005274035.5:c.347C>T, XM_005274035.5:c.347C>G, XM_005274035.4:c.347C>T, XM_005274035.4:c.347C>G, XM_005274035.3:c.347C>T, XM_005274035.3:c.347C>G, XM_005274035.2:c.347C>T, XM_005274035.2:c.347C>G, XM_005274035.1:c.347C>T, XM_005274035.1:c.347C>G, XM_011545092.4:c.134C>T, XM_011545092.4:c.134C>G, XM_011545092.3:c.134C>T, XM_011545092.3:c.134C>G, XM_011545092.2:c.134C>T, XM_011545092.2:c.134C>G, XM_011545092.1:c.134C>T, XM_011545092.1:c.134C>G, XM_047427071.1:c.347C>T, XM_047427071.1:c.347C>G, NP_060105.3:p.Ser116Phe, NP_060105.3:p.Ser116Cys, NP_057112.3:p.Ser116Phe, NP_057112.3:p.Ser116Cys, NP_001350495.1:p.Ser116Phe, NP_001350495.1:p.Ser116Cys, NP_001356355.1:p.Ser116Phe, NP_001356355.1:p.Ser116Cys, NP_001356356.1:p.Ser116Phe, NP_001356356.1:p.Ser116Cys, NP_001356354.1:p.Ser45Phe, NP_001356354.1:p.Ser45Cys, XP_005274092.2:p.Ser116Phe, XP_005274092.2:p.Ser116Cys, XP_011543394.1:p.Ser45Phe, XP_011543394.1:p.Ser45Cys, XP_047283027.1:p.Ser116Phe, XP_047283027.1:p.Ser116Cys

                            14.

                            rs1475076444 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              11:68213167 (GRCh38)
                              11:67980634 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:68213166:C:A,NC_000011.10:68213166:C:G
                              Gene:
                              KMT5B (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1474276550 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                11:68166518 (GRCh38)
                                11:67933985 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:68166517:G:C,NC_000011.10:68166517:G:T
                                Gene:
                                KMT5B (Varview)
                                Functional Consequence:
                                intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1469185992 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:68166423 (GRCh38)
                                  11:67933890 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:68166422:T:C
                                  Gene:
                                  KMT5B (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1466960250 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:68190036 (GRCh38)
                                    11:67957503 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:68190035:C:T
                                    Gene:
                                    KMT5B (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.0002/1 (ALFA)
                                    T=0.0002/1 (Estonian)
                                    HGVS:
                                    NC_000011.10:g.68190036C>T, NC_000011.9:g.67957503C>T, NG_052873.1:g.28737G>A, NM_017635.5:c.41G>A, NM_017635.4:c.41G>A, NM_017635.3:c.41G>A, NM_016028.4:c.41G>A, NM_001300908.2:c.-627G>A, NM_001300908.1:c.-627G>A, NM_001300909.2:c.41G>A, NM_001300909.1:c.41G>A, NM_001363566.2:c.41G>A, NM_001363566.1:c.41G>A, NM_001369433.1:c.-1138G>A, NM_001369428.1:c.-837G>A, NM_001369432.1:c.-623G>A, NM_001369431.1:c.-623G>A, NM_001300907.1:c.-544G>A, NM_001369426.1:c.41G>A, NM_001369429.1:c.-328G>A, NR_161380.1:n.289G>A, NM_001369424.1:c.-623G>A, NR_161378.1:n.289G>A, NM_001369427.1:c.41G>A, NR_161379.1:n.289G>A, XM_005274035.5:c.41G>A, XM_005274035.4:c.41G>A, XM_005274035.3:c.41G>A, XM_005274035.2:c.41G>A, XM_005274035.1:c.41G>A, XM_005274036.5:c.41G>A, XM_005274036.4:c.41G>A, XM_005274036.3:c.41G>A, XM_005274036.2:c.41G>A, XM_005274036.1:c.41G>A, XM_006718581.2:c.41G>A, XM_006718581.1:c.41G>A, XM_047427071.1:c.41G>A, NP_060105.3:p.Gly14Asp, NP_057112.3:p.Gly14Asp, NP_001287838.1:p.Gly14Asp, NP_001350495.1:p.Gly14Asp, NP_001356355.1:p.Gly14Asp, NP_001356356.1:p.Gly14Asp, XP_005274092.2:p.Gly14Asp, XP_005274093.2:p.Gly14Asp, XP_006718644.1:p.Gly14Asp, XP_047283027.1:p.Gly14Asp

                                    18.

                                    rs1466014334 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      11:68166447 (GRCh38)
                                      11:67933914 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:68166446:A:C
                                      Gene:
                                      KMT5B (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000029/4 (GnomAD)
                                      C=0.000034/9 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1465402950 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:68185913 (GRCh38)
                                        11:67953380 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:68185912:C:T
                                        Gene:
                                        KMT5B (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.68185913C>T, NC_000011.9:g.67953380C>T, NG_052873.1:g.32860G>A, NM_017635.5:c.176G>A, NM_017635.4:c.176G>A, NM_017635.3:c.176G>A, NM_016028.4:c.176G>A, NM_001300908.2:c.-492G>A, NM_001300908.1:c.-492G>A, NM_001300909.2:c.176G>A, NM_001300909.1:c.176G>A, NM_001363566.2:c.176G>A, NM_001363566.1:c.176G>A, NM_001369433.1:c.-1003G>A, NM_001369428.1:c.-702G>A, NM_001369432.1:c.-488G>A, NM_001369431.1:c.-488G>A, NM_001300907.1:c.-409G>A, NM_001369426.1:c.176G>A, NM_001369430.1:c.-419G>A, NR_161380.1:n.424G>A, NM_001369424.1:c.-488G>A, NR_161378.1:n.424G>A, NM_001369427.1:c.176G>A, NR_161379.1:n.424G>A, NM_001369425.1:c.-38G>A, XM_005274035.5:c.176G>A, XM_005274035.4:c.176G>A, XM_005274035.3:c.176G>A, XM_005274035.2:c.176G>A, XM_005274035.1:c.176G>A, XM_005274036.5:c.176G>A, XM_005274036.4:c.176G>A, XM_005274036.3:c.176G>A, XM_005274036.2:c.176G>A, XM_005274036.1:c.176G>A, XM_011545092.4:c.-38G>A, XM_011545092.3:c.-38G>A, XM_011545092.2:c.-38G>A, XM_011545092.1:c.-38G>A, XM_006718581.2:c.176G>A, XM_006718581.1:c.176G>A, XM_047427071.1:c.176G>A, XM_047427072.1:c.-38G>A, NP_060105.3:p.Gly59Glu, NP_057112.3:p.Gly59Glu, NP_001287838.1:p.Gly59Glu, NP_001350495.1:p.Gly59Glu, NP_001356355.1:p.Gly59Glu, NP_001356356.1:p.Gly59Glu, XP_005274092.2:p.Gly59Glu, XP_005274093.2:p.Gly59Glu, XP_006718644.1:p.Gly59Glu, XP_047283027.1:p.Gly59Glu

                                        20.

                                        rs1463748789 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          11:68167042 (GRCh38)
                                          11:67934509 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:68167041:C:A
                                          Gene:
                                          KMT5B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:
                                          NC_000011.10:g.68167042C>A, NC_000011.9:g.67934509C>A, NG_052873.1:g.51731G>T, NM_017635.5:c.1114G>T, NM_017635.4:c.1114G>T, NM_017635.3:c.1114G>T, NM_016028.4:c.1114G>T, NM_001300908.2:c.394G>T, NM_001300908.1:c.394G>T, NM_001300909.2:c.1045G>T, NM_001300909.1:c.1045G>T, NM_001363566.2:c.1114G>T, NM_001363566.1:c.1114G>T, NM_001369433.1:c.598G>T, NM_001369428.1:c.598G>T, NM_001369432.1:c.598G>T, NM_001369431.1:c.598G>T, NM_001300907.1:c.598G>T, NM_001369426.1:c.1114G>T, NM_001369430.1:c.598G>T, NM_001369429.1:c.598G>T, NR_161380.1:n.1768G>T, NM_001369424.1:c.598G>T, NR_161378.1:n.1407G>T, NM_001369427.1:c.1114G>T, NR_161379.1:n.1195G>T, NM_001369425.1:c.901G>T, XM_005274035.5:c.1114G>T, XM_005274035.4:c.1114G>T, XM_005274035.3:c.1114G>T, XM_005274035.2:c.1114G>T, XM_005274035.1:c.1114G>T, XM_005274036.5:c.1045G>T, XM_005274036.4:c.1045G>T, XM_005274036.3:c.1045G>T, XM_005274036.2:c.1045G>T, XM_005274036.1:c.1045G>T, XM_011545092.4:c.901G>T, XM_011545092.3:c.901G>T, XM_011545092.2:c.901G>T, XM_011545092.1:c.901G>T, XM_006718581.2:c.1045G>T, XM_006718581.1:c.1045G>T, XM_024448570.2:c.-129G>T, XM_024448570.1:c.-129G>T, XM_047427071.1:c.1114G>T, XM_047427072.1:c.832G>T, XM_047427073.1:c.-129G>T, NP_060105.3:p.Asp372Tyr, NP_057112.3:p.Asp372Tyr, NP_001287837.1:p.Asp132Tyr, NP_001287838.1:p.Asp349Tyr, NP_001350495.1:p.Asp372Tyr, NP_001356362.1:p.Asp200Tyr, NP_001356357.1:p.Asp200Tyr, NP_001356361.1:p.Asp200Tyr, NP_001356360.1:p.Asp200Tyr, NP_001287836.1:p.Asp200Tyr, NP_001356355.1:p.Asp372Tyr, NP_001356359.1:p.Asp200Tyr, NP_001356358.1:p.Asp200Tyr, NP_001356353.1:p.Asp200Tyr, NP_001356356.1:p.Asp372Tyr, NP_001356354.1:p.Asp301Tyr, XP_005274092.2:p.Asp372Tyr, XP_005274093.2:p.Asp349Tyr, XP_011543394.1:p.Asp301Tyr, XP_006718644.1:p.Asp349Tyr, XP_047283027.1:p.Asp372Tyr, XP_047283028.1:p.Asp278Tyr

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