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Items: 1 to 20 of 496

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.

    rs1488628172 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:68158866 (GRCh38)
      11:67926333 (GRCh37)
      Canonical SPDI:
      NC_000011.10:68158865:T:C
      Gene:
      KMT5B (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000011.10:g.68158866T>C, NC_000011.9:g.67926333T>C, NG_052873.1:g.59907A>G, NM_017635.5:c.1480A>G, NM_017635.4:c.1480A>G, NM_017635.3:c.1480A>G, NM_001300908.2:c.760A>G, NM_001300908.1:c.760A>G, NM_001369433.1:c.964A>G, NM_001369428.1:c.964A>G, NM_001369432.1:c.964A>G, NM_001369431.1:c.964A>G, NM_001300907.1:c.964A>G, NM_001369426.1:c.1480A>G, NM_001369430.1:c.964A>G, NM_001369429.1:c.964A>G, XM_005274035.5:c.1480A>G, XM_005274035.4:c.1480A>G, XM_005274035.3:c.1480A>G, XM_005274035.2:c.1480A>G, XM_005274035.1:c.1480A>G, XM_005274036.5:c.1411A>G, XM_005274036.4:c.1411A>G, XM_005274036.3:c.1411A>G, XM_005274036.2:c.1411A>G, XM_005274036.1:c.1411A>G, XM_011545092.4:c.1267A>G, XM_011545092.3:c.1267A>G, XM_011545092.2:c.1267A>G, XM_011545092.1:c.1267A>G, XM_006718581.2:c.1411A>G, XM_006718581.1:c.1411A>G, XM_024448570.2:c.238A>G, XM_024448570.1:c.238A>G, XM_047427071.1:c.1480A>G, XM_047427072.1:c.1198A>G, XM_047427073.1:c.238A>G, NP_060105.3:p.Lys494Glu, NP_001287837.1:p.Lys254Glu, NP_001356362.1:p.Lys322Glu, NP_001356357.1:p.Lys322Glu, NP_001356361.1:p.Lys322Glu, NP_001356360.1:p.Lys322Glu, NP_001287836.1:p.Lys322Glu, NP_001356355.1:p.Lys494Glu, NP_001356359.1:p.Lys322Glu, NP_001356358.1:p.Lys322Glu, XP_005274092.2:p.Lys494Glu, XP_005274093.2:p.Lys471Glu, XP_011543394.1:p.Lys423Glu, XP_006718644.1:p.Lys471Glu, XP_024304338.1:p.Lys80Glu, XP_047283027.1:p.Lys494Glu, XP_047283028.1:p.Lys400Glu, XP_047283029.1:p.Lys80Glu

      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.

        rs1485215614 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          11:68157910 (GRCh38)
          11:67925377 (GRCh37)
          Canonical SPDI:
          NC_000011.10:68157909:T:G
          Gene:
          KMT5B (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.68157910T>G, NC_000011.9:g.67925377T>G, NG_052873.1:g.60863A>C, NM_017635.5:c.2436A>C, NM_017635.4:c.2436A>C, NM_017635.3:c.2436A>C, NM_001300908.2:c.1716A>C, NM_001300908.1:c.1716A>C, NM_001369433.1:c.1920A>C, NM_001369428.1:c.1920A>C, NM_001369432.1:c.1920A>C, NM_001369431.1:c.1920A>C, NM_001300907.1:c.1920A>C, NM_001369426.1:c.2436A>C, NM_001369430.1:c.1920A>C, NM_001369429.1:c.1920A>C, XM_005274035.5:c.2436A>C, XM_005274035.4:c.2436A>C, XM_005274035.3:c.2436A>C, XM_005274035.2:c.2436A>C, XM_005274035.1:c.2436A>C, XM_005274036.5:c.2367A>C, XM_005274036.4:c.2367A>C, XM_005274036.3:c.2367A>C, XM_005274036.2:c.2367A>C, XM_005274036.1:c.2367A>C, XM_011545092.4:c.2223A>C, XM_011545092.3:c.2223A>C, XM_011545092.2:c.2223A>C, XM_011545092.1:c.2223A>C, XM_006718581.2:c.2367A>C, XM_006718581.1:c.2367A>C, XM_024448570.2:c.1194A>C, XM_024448570.1:c.1194A>C, XM_047427071.1:c.2436A>C, XM_047427072.1:c.2154A>C, XM_047427073.1:c.1194A>C

          5.

          rs1479163692 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:68158932 (GRCh38)
            11:67926399 (GRCh37)
            Canonical SPDI:
            NC_000011.10:68158931:T:C
            Gene:
            KMT5B (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.000043/6 (GnomAD)
            HGVS:
            NC_000011.10:g.68158932T>C, NC_000011.9:g.67926399T>C, NG_052873.1:g.59841A>G, NM_017635.5:c.1414A>G, NM_017635.4:c.1414A>G, NM_017635.3:c.1414A>G, NM_001300908.2:c.694A>G, NM_001300908.1:c.694A>G, NM_001369433.1:c.898A>G, NM_001369428.1:c.898A>G, NM_001369432.1:c.898A>G, NM_001369431.1:c.898A>G, NM_001300907.1:c.898A>G, NM_001369426.1:c.1414A>G, NM_001369430.1:c.898A>G, NM_001369429.1:c.898A>G, XM_005274035.5:c.1414A>G, XM_005274035.4:c.1414A>G, XM_005274035.3:c.1414A>G, XM_005274035.2:c.1414A>G, XM_005274035.1:c.1414A>G, XM_005274036.5:c.1345A>G, XM_005274036.4:c.1345A>G, XM_005274036.3:c.1345A>G, XM_005274036.2:c.1345A>G, XM_005274036.1:c.1345A>G, XM_011545092.4:c.1201A>G, XM_011545092.3:c.1201A>G, XM_011545092.2:c.1201A>G, XM_011545092.1:c.1201A>G, XM_006718581.2:c.1345A>G, XM_006718581.1:c.1345A>G, XM_024448570.2:c.172A>G, XM_024448570.1:c.172A>G, XM_047427071.1:c.1414A>G, XM_047427072.1:c.1132A>G, XM_047427073.1:c.172A>G, NP_060105.3:p.Met472Val, NP_001287837.1:p.Met232Val, NP_001356362.1:p.Met300Val, NP_001356357.1:p.Met300Val, NP_001356361.1:p.Met300Val, NP_001356360.1:p.Met300Val, NP_001287836.1:p.Met300Val, NP_001356355.1:p.Met472Val, NP_001356359.1:p.Met300Val, NP_001356358.1:p.Met300Val, XP_005274092.2:p.Met472Val, XP_005274093.2:p.Met449Val, XP_011543394.1:p.Met401Val, XP_006718644.1:p.Met449Val, XP_024304338.1:p.Met58Val, XP_047283027.1:p.Met472Val, XP_047283028.1:p.Met378Val, XP_047283029.1:p.Met58Val

            6.

            rs1476541743 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:68158085 (GRCh38)
              11:67925552 (GRCh37)
              Canonical SPDI:
              NC_000011.10:68158084:T:C
              Gene:
              KMT5B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.68158085T>C, NC_000011.9:g.67925552T>C, NG_052873.1:g.60688A>G, NM_017635.5:c.2261A>G, NM_017635.4:c.2261A>G, NM_017635.3:c.2261A>G, NM_001300908.2:c.1541A>G, NM_001300908.1:c.1541A>G, NM_001369433.1:c.1745A>G, NM_001369428.1:c.1745A>G, NM_001369432.1:c.1745A>G, NM_001369431.1:c.1745A>G, NM_001300907.1:c.1745A>G, NM_001369426.1:c.2261A>G, NM_001369430.1:c.1745A>G, NM_001369429.1:c.1745A>G, XM_005274035.5:c.2261A>G, XM_005274035.4:c.2261A>G, XM_005274035.3:c.2261A>G, XM_005274035.2:c.2261A>G, XM_005274035.1:c.2261A>G, XM_005274036.5:c.2192A>G, XM_005274036.4:c.2192A>G, XM_005274036.3:c.2192A>G, XM_005274036.2:c.2192A>G, XM_005274036.1:c.2192A>G, XM_011545092.4:c.2048A>G, XM_011545092.3:c.2048A>G, XM_011545092.2:c.2048A>G, XM_011545092.1:c.2048A>G, XM_006718581.2:c.2192A>G, XM_006718581.1:c.2192A>G, XM_024448570.2:c.1019A>G, XM_024448570.1:c.1019A>G, XM_047427071.1:c.2261A>G, XM_047427072.1:c.1979A>G, XM_047427073.1:c.1019A>G, NP_060105.3:p.Asp754Gly, NP_001287837.1:p.Asp514Gly, NP_001356362.1:p.Asp582Gly, NP_001356357.1:p.Asp582Gly, NP_001356361.1:p.Asp582Gly, NP_001356360.1:p.Asp582Gly, NP_001287836.1:p.Asp582Gly, NP_001356355.1:p.Asp754Gly, NP_001356359.1:p.Asp582Gly, NP_001356358.1:p.Asp582Gly, XP_005274092.2:p.Asp754Gly, XP_005274093.2:p.Asp731Gly, XP_011543394.1:p.Asp683Gly, XP_006718644.1:p.Asp731Gly, XP_024304338.1:p.Asp340Gly, XP_047283027.1:p.Asp754Gly, XP_047283028.1:p.Asp660Gly, XP_047283029.1:p.Asp340Gly

              7.

              rs1475422436 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:68157711 (GRCh38)
                11:67925178 (GRCh37)
                Canonical SPDI:
                NC_000011.10:68157710:G:A
                Gene:
                KMT5B (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.68157711G>A, NC_000011.9:g.67925178G>A, NG_052873.1:g.61062C>T, NM_017635.5:c.2635C>T, NM_017635.4:c.2635C>T, NM_017635.3:c.2635C>T, NM_001300908.2:c.1915C>T, NM_001300908.1:c.1915C>T, NM_001369433.1:c.2119C>T, NM_001369428.1:c.2119C>T, NM_001369432.1:c.2119C>T, NM_001369431.1:c.2119C>T, NM_001300907.1:c.2119C>T, NM_001369426.1:c.2635C>T, NM_001369430.1:c.2119C>T, NM_001369429.1:c.2119C>T, XM_005274035.5:c.2635C>T, XM_005274035.4:c.2635C>T, XM_005274035.3:c.2635C>T, XM_005274035.2:c.2635C>T, XM_005274035.1:c.2635C>T, XM_005274036.5:c.2566C>T, XM_005274036.4:c.2566C>T, XM_005274036.3:c.2566C>T, XM_005274036.2:c.2566C>T, XM_005274036.1:c.2566C>T, XM_011545092.4:c.2422C>T, XM_011545092.3:c.2422C>T, XM_011545092.2:c.2422C>T, XM_011545092.1:c.2422C>T, XM_006718581.2:c.2566C>T, XM_006718581.1:c.2566C>T, XM_024448570.2:c.1393C>T, XM_024448570.1:c.1393C>T, XM_047427071.1:c.2635C>T, XM_047427072.1:c.2353C>T, XM_047427073.1:c.1393C>T, NP_060105.3:p.Gln879Ter, NP_001287837.1:p.Gln639Ter, NP_001356362.1:p.Gln707Ter, NP_001356357.1:p.Gln707Ter, NP_001356361.1:p.Gln707Ter, NP_001356360.1:p.Gln707Ter, NP_001287836.1:p.Gln707Ter, NP_001356355.1:p.Gln879Ter, NP_001356359.1:p.Gln707Ter, NP_001356358.1:p.Gln707Ter, XP_005274092.2:p.Gln879Ter, XP_005274093.2:p.Gln856Ter, XP_011543394.1:p.Gln808Ter, XP_006718644.1:p.Gln856Ter, XP_024304338.1:p.Gln465Ter, XP_047283027.1:p.Gln879Ter, XP_047283028.1:p.Gln785Ter, XP_047283029.1:p.Gln465Ter

                8.

                rs1475376988 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  11:68157841 (GRCh38)
                  11:67925308 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:68157840:A:C
                  Gene:
                  KMT5B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000011.10:g.68157841A>C, NC_000011.9:g.67925308A>C, NG_052873.1:g.60932T>G, NM_017635.5:c.2505T>G, NM_017635.4:c.2505T>G, NM_017635.3:c.2505T>G, NM_001300908.2:c.1785T>G, NM_001300908.1:c.1785T>G, NM_001369433.1:c.1989T>G, NM_001369428.1:c.1989T>G, NM_001369432.1:c.1989T>G, NM_001369431.1:c.1989T>G, NM_001300907.1:c.1989T>G, NM_001369426.1:c.2505T>G, NM_001369430.1:c.1989T>G, NM_001369429.1:c.1989T>G, XM_005274035.5:c.2505T>G, XM_005274035.4:c.2505T>G, XM_005274035.3:c.2505T>G, XM_005274035.2:c.2505T>G, XM_005274035.1:c.2505T>G, XM_005274036.5:c.2436T>G, XM_005274036.4:c.2436T>G, XM_005274036.3:c.2436T>G, XM_005274036.2:c.2436T>G, XM_005274036.1:c.2436T>G, XM_011545092.4:c.2292T>G, XM_011545092.3:c.2292T>G, XM_011545092.2:c.2292T>G, XM_011545092.1:c.2292T>G, XM_006718581.2:c.2436T>G, XM_006718581.1:c.2436T>G, XM_024448570.2:c.1263T>G, XM_024448570.1:c.1263T>G, XM_047427071.1:c.2505T>G, XM_047427072.1:c.2223T>G, XM_047427073.1:c.1263T>G, NP_060105.3:p.Asp835Glu, NP_001287837.1:p.Asp595Glu, NP_001356362.1:p.Asp663Glu, NP_001356357.1:p.Asp663Glu, NP_001356361.1:p.Asp663Glu, NP_001356360.1:p.Asp663Glu, NP_001287836.1:p.Asp663Glu, NP_001356355.1:p.Asp835Glu, NP_001356359.1:p.Asp663Glu, NP_001356358.1:p.Asp663Glu, XP_005274092.2:p.Asp835Glu, XP_005274093.2:p.Asp812Glu, XP_011543394.1:p.Asp764Glu, XP_006718644.1:p.Asp812Glu, XP_024304338.1:p.Asp421Glu, XP_047283027.1:p.Asp835Glu, XP_047283028.1:p.Asp741Glu, XP_047283029.1:p.Asp421Glu

                  9.

                  rs1474640095 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    11:68158175 (GRCh38)
                    11:67925642 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:68158174:T:A,NC_000011.10:68158174:T:C
                    Gene:
                    KMT5B (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000011.10:g.68158175T>A, NC_000011.10:g.68158175T>C, NC_000011.9:g.67925642T>A, NC_000011.9:g.67925642T>C, NG_052873.1:g.60598A>T, NG_052873.1:g.60598A>G, NM_017635.5:c.2171A>T, NM_017635.5:c.2171A>G, NM_017635.4:c.2171A>T, NM_017635.4:c.2171A>G, NM_017635.3:c.2171A>T, NM_017635.3:c.2171A>G, NM_001300908.2:c.1451A>T, NM_001300908.2:c.1451A>G, NM_001300908.1:c.1451A>T, NM_001300908.1:c.1451A>G, NM_001369433.1:c.1655A>T, NM_001369433.1:c.1655A>G, NM_001369428.1:c.1655A>T, NM_001369428.1:c.1655A>G, NM_001369432.1:c.1655A>T, NM_001369432.1:c.1655A>G, NM_001369431.1:c.1655A>T, NM_001369431.1:c.1655A>G, NM_001300907.1:c.1655A>T, NM_001300907.1:c.1655A>G, NM_001369426.1:c.2171A>T, NM_001369426.1:c.2171A>G, NM_001369430.1:c.1655A>T, NM_001369430.1:c.1655A>G, NM_001369429.1:c.1655A>T, NM_001369429.1:c.1655A>G, XM_005274035.5:c.2171A>T, XM_005274035.5:c.2171A>G, XM_005274035.4:c.2171A>T, XM_005274035.4:c.2171A>G, XM_005274035.3:c.2171A>T, XM_005274035.3:c.2171A>G, XM_005274035.2:c.2171A>T, XM_005274035.2:c.2171A>G, XM_005274035.1:c.2171A>T, XM_005274035.1:c.2171A>G, XM_005274036.5:c.2102A>T, XM_005274036.5:c.2102A>G, XM_005274036.4:c.2102A>T, XM_005274036.4:c.2102A>G, XM_005274036.3:c.2102A>T, XM_005274036.3:c.2102A>G, XM_005274036.2:c.2102A>T, XM_005274036.2:c.2102A>G, XM_005274036.1:c.2102A>T, XM_005274036.1:c.2102A>G, XM_011545092.4:c.1958A>T, XM_011545092.4:c.1958A>G, XM_011545092.3:c.1958A>T, XM_011545092.3:c.1958A>G, XM_011545092.2:c.1958A>T, XM_011545092.2:c.1958A>G, XM_011545092.1:c.1958A>T, XM_011545092.1:c.1958A>G, XM_006718581.2:c.2102A>T, XM_006718581.2:c.2102A>G, XM_006718581.1:c.2102A>T, XM_006718581.1:c.2102A>G, XM_024448570.2:c.929A>T, XM_024448570.2:c.929A>G, XM_024448570.1:c.929A>T, XM_024448570.1:c.929A>G, XM_047427071.1:c.2171A>T, XM_047427071.1:c.2171A>G, XM_047427072.1:c.1889A>T, XM_047427072.1:c.1889A>G, XM_047427073.1:c.929A>T, XM_047427073.1:c.929A>G, NP_060105.3:p.His724Leu, NP_060105.3:p.His724Arg, NP_001287837.1:p.His484Leu, NP_001287837.1:p.His484Arg, NP_001356362.1:p.His552Leu, NP_001356362.1:p.His552Arg, NP_001356357.1:p.His552Leu, NP_001356357.1:p.His552Arg, NP_001356361.1:p.His552Leu, NP_001356361.1:p.His552Arg, NP_001356360.1:p.His552Leu, NP_001356360.1:p.His552Arg, NP_001287836.1:p.His552Leu, NP_001287836.1:p.His552Arg, NP_001356355.1:p.His724Leu, NP_001356355.1:p.His724Arg, NP_001356359.1:p.His552Leu, NP_001356359.1:p.His552Arg, NP_001356358.1:p.His552Leu, NP_001356358.1:p.His552Arg, XP_005274092.2:p.His724Leu, XP_005274092.2:p.His724Arg, XP_005274093.2:p.His701Leu, XP_005274093.2:p.His701Arg, XP_011543394.1:p.His653Leu, XP_011543394.1:p.His653Arg, XP_006718644.1:p.His701Leu, XP_006718644.1:p.His701Arg, XP_024304338.1:p.His310Leu, XP_024304338.1:p.His310Arg, XP_047283027.1:p.His724Leu, XP_047283027.1:p.His724Arg, XP_047283028.1:p.His630Leu, XP_047283028.1:p.His630Arg, XP_047283029.1:p.His310Leu, XP_047283029.1:p.His310Arg

                    10.

                    rs1473204749 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      11:68158367 (GRCh38)
                      11:67925834 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:68158366:CCC:CC
                      Gene:
                      KMT5B (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.68158369del, NC_000011.9:g.67925836del, NG_052873.1:g.60406del, NM_017635.5:c.1979del, NM_017635.4:c.1979del, NM_017635.3:c.1979del, NM_001300908.2:c.1259del, NM_001300908.1:c.1259del, NM_001369433.1:c.1463del, NM_001369428.1:c.1463del, NM_001369432.1:c.1463del, NM_001369431.1:c.1463del, NM_001300907.1:c.1463del, NM_001369426.1:c.1979del, NM_001369430.1:c.1463del, NM_001369429.1:c.1463del, XM_005274035.5:c.1979del, XM_005274035.4:c.1979del, XM_005274035.3:c.1979del, XM_005274035.2:c.1979del, XM_005274035.1:c.1979del, XM_005274036.5:c.1910del, XM_005274036.4:c.1910del, XM_005274036.3:c.1910del, XM_005274036.2:c.1910del, XM_005274036.1:c.1910del, XM_011545092.4:c.1766del, XM_011545092.3:c.1766del, XM_011545092.2:c.1766del, XM_011545092.1:c.1766del, XM_006718581.2:c.1910del, XM_006718581.1:c.1910del, XM_024448570.2:c.737del, XM_024448570.1:c.737del, XM_047427071.1:c.1979del, XM_047427072.1:c.1697del, XM_047427073.1:c.737del, NP_060105.3:p.Gly660fs, NP_001287837.1:p.Gly420fs, NP_001356362.1:p.Gly488fs, NP_001356357.1:p.Gly488fs, NP_001356361.1:p.Gly488fs, NP_001356360.1:p.Gly488fs, NP_001287836.1:p.Gly488fs, NP_001356355.1:p.Gly660fs, NP_001356359.1:p.Gly488fs, NP_001356358.1:p.Gly488fs, XP_005274092.2:p.Gly660fs, XP_005274093.2:p.Gly637fs, XP_011543394.1:p.Gly589fs, XP_006718644.1:p.Gly637fs, XP_024304338.1:p.Gly246fs, XP_047283027.1:p.Gly660fs, XP_047283028.1:p.Gly566fs, XP_047283029.1:p.Gly246fs

                      11.

                      rs1470200800 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        11:68158300 (GRCh38)
                        11:67925767 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:68158299:G:C
                        Gene:
                        KMT5B (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.68158300G>C, NC_000011.9:g.67925767G>C, NG_052873.1:g.60473C>G, NM_017635.5:c.2046C>G, NM_017635.4:c.2046C>G, NM_017635.3:c.2046C>G, NM_001300908.2:c.1326C>G, NM_001300908.1:c.1326C>G, NM_001369433.1:c.1530C>G, NM_001369428.1:c.1530C>G, NM_001369432.1:c.1530C>G, NM_001369431.1:c.1530C>G, NM_001300907.1:c.1530C>G, NM_001369426.1:c.2046C>G, NM_001369430.1:c.1530C>G, NM_001369429.1:c.1530C>G, XM_005274035.5:c.2046C>G, XM_005274035.4:c.2046C>G, XM_005274035.3:c.2046C>G, XM_005274035.2:c.2046C>G, XM_005274035.1:c.2046C>G, XM_005274036.5:c.1977C>G, XM_005274036.4:c.1977C>G, XM_005274036.3:c.1977C>G, XM_005274036.2:c.1977C>G, XM_005274036.1:c.1977C>G, XM_011545092.4:c.1833C>G, XM_011545092.3:c.1833C>G, XM_011545092.2:c.1833C>G, XM_011545092.1:c.1833C>G, XM_006718581.2:c.1977C>G, XM_006718581.1:c.1977C>G, XM_024448570.2:c.804C>G, XM_024448570.1:c.804C>G, XM_047427071.1:c.2046C>G, XM_047427072.1:c.1764C>G, XM_047427073.1:c.804C>G, NP_060105.3:p.Ser682Arg, NP_001287837.1:p.Ser442Arg, NP_001356362.1:p.Ser510Arg, NP_001356357.1:p.Ser510Arg, NP_001356361.1:p.Ser510Arg, NP_001356360.1:p.Ser510Arg, NP_001287836.1:p.Ser510Arg, NP_001356355.1:p.Ser682Arg, NP_001356359.1:p.Ser510Arg, NP_001356358.1:p.Ser510Arg, XP_005274092.2:p.Ser682Arg, XP_005274093.2:p.Ser659Arg, XP_011543394.1:p.Ser611Arg, XP_006718644.1:p.Ser659Arg, XP_024304338.1:p.Ser268Arg, XP_047283027.1:p.Ser682Arg, XP_047283028.1:p.Ser588Arg, XP_047283029.1:p.Ser268Arg

                        12.

                        rs1468974056 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:68158051 (GRCh38)
                          11:67925518 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:68158050:T:C
                          Gene:
                          KMT5B (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000011.10:g.68158051T>C, NC_000011.9:g.67925518T>C, NG_052873.1:g.60722A>G, NM_017635.5:c.2295A>G, NM_017635.4:c.2295A>G, NM_017635.3:c.2295A>G, NM_001300908.2:c.1575A>G, NM_001300908.1:c.1575A>G, NM_001369433.1:c.1779A>G, NM_001369428.1:c.1779A>G, NM_001369432.1:c.1779A>G, NM_001369431.1:c.1779A>G, NM_001300907.1:c.1779A>G, NM_001369426.1:c.2295A>G, NM_001369430.1:c.1779A>G, NM_001369429.1:c.1779A>G, XM_005274035.5:c.2295A>G, XM_005274035.4:c.2295A>G, XM_005274035.3:c.2295A>G, XM_005274035.2:c.2295A>G, XM_005274035.1:c.2295A>G, XM_005274036.5:c.2226A>G, XM_005274036.4:c.2226A>G, XM_005274036.3:c.2226A>G, XM_005274036.2:c.2226A>G, XM_005274036.1:c.2226A>G, XM_011545092.4:c.2082A>G, XM_011545092.3:c.2082A>G, XM_011545092.2:c.2082A>G, XM_011545092.1:c.2082A>G, XM_006718581.2:c.2226A>G, XM_006718581.1:c.2226A>G, XM_024448570.2:c.1053A>G, XM_024448570.1:c.1053A>G, XM_047427071.1:c.2295A>G, XM_047427072.1:c.2013A>G, XM_047427073.1:c.1053A>G

                          13.

                          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

                            14.

                            rs1460028285 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:68157719 (GRCh38)
                              11:67925186 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:68157718:C:T
                              Gene:
                              KMT5B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000032/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000011.10:g.68157719C>T, NC_000011.9:g.67925186C>T, NG_052873.1:g.61054G>A, NM_017635.5:c.2627G>A, NM_017635.4:c.2627G>A, NM_017635.3:c.2627G>A, NM_001300908.2:c.1907G>A, NM_001300908.1:c.1907G>A, NM_001369433.1:c.2111G>A, NM_001369428.1:c.2111G>A, NM_001369432.1:c.2111G>A, NM_001369431.1:c.2111G>A, NM_001300907.1:c.2111G>A, NM_001369426.1:c.2627G>A, NM_001369430.1:c.2111G>A, NM_001369429.1:c.2111G>A, XM_005274035.5:c.2627G>A, XM_005274035.4:c.2627G>A, XM_005274035.3:c.2627G>A, XM_005274035.2:c.2627G>A, XM_005274035.1:c.2627G>A, XM_005274036.5:c.2558G>A, XM_005274036.4:c.2558G>A, XM_005274036.3:c.2558G>A, XM_005274036.2:c.2558G>A, XM_005274036.1:c.2558G>A, XM_011545092.4:c.2414G>A, XM_011545092.3:c.2414G>A, XM_011545092.2:c.2414G>A, XM_011545092.1:c.2414G>A, XM_006718581.2:c.2558G>A, XM_006718581.1:c.2558G>A, XM_024448570.2:c.1385G>A, XM_024448570.1:c.1385G>A, XM_047427071.1:c.2627G>A, XM_047427072.1:c.2345G>A, XM_047427073.1:c.1385G>A, NP_060105.3:p.Arg876Lys, NP_001287837.1:p.Arg636Lys, NP_001356362.1:p.Arg704Lys, NP_001356357.1:p.Arg704Lys, NP_001356361.1:p.Arg704Lys, NP_001356360.1:p.Arg704Lys, NP_001287836.1:p.Arg704Lys, NP_001356355.1:p.Arg876Lys, NP_001356359.1:p.Arg704Lys, NP_001356358.1:p.Arg704Lys, XP_005274092.2:p.Arg876Lys, XP_005274093.2:p.Arg853Lys, XP_011543394.1:p.Arg805Lys, XP_006718644.1:p.Arg853Lys, XP_024304338.1:p.Arg462Lys, XP_047283027.1:p.Arg876Lys, XP_047283028.1:p.Arg782Lys, XP_047283029.1:p.Arg462Lys

                              15.

                              rs1456461032 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                11:68171629 (GRCh38)
                                11:67939097 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:68171629:G:GG
                                Gene:
                                KMT5B (Varview)
                                Functional Consequence:
                                frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GG=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.68171630dup, NC_000011.9:g.67939097dup, NG_052873.1:g.47143dup, NM_017635.5:c.733dup, NM_017635.4:c.733dup, NM_017635.3:c.733dup, NM_016028.4:c.733dup, NM_001300908.2:c.13dup, NM_001300908.1:c.13dup, NM_001300909.2:c.664dup, NM_001300909.1:c.664dup, NM_001363566.2:c.733dup, NM_001363566.1:c.733dup, NM_001369433.1:c.217dup, NM_001369428.1:c.217dup, NM_001369432.1:c.217dup, NM_001369431.1:c.217dup, NM_001300907.1:c.217dup, NM_001369426.1:c.733dup, NM_001369430.1:c.217dup, NM_001369429.1:c.217dup, NR_161380.1:n.1342dup, NM_001369424.1:c.217dup, NR_161378.1:n.981dup, NM_001369427.1:c.733dup, NM_001369425.1:c.520dup, XM_005274035.5:c.733dup, XM_005274035.4:c.733dup, XM_005274035.3:c.733dup, XM_005274035.2:c.733dup, XM_005274035.1:c.733dup, XM_005274036.5:c.664dup, XM_005274036.4:c.664dup, XM_005274036.3:c.664dup, XM_005274036.2:c.664dup, XM_005274036.1:c.664dup, XM_011545092.4:c.520dup, XM_011545092.3:c.520dup, XM_011545092.2:c.520dup, XM_011545092.1:c.520dup, XM_006718581.2:c.664dup, XM_006718581.1:c.664dup, XM_024448570.2:c.-555dup, XM_024448570.1:c.-555dup, XM_047427071.1:c.733dup, XM_047427072.1:c.451dup, NP_060105.3:p.His245fs, NP_057112.3:p.His245fs, NP_001287837.1:p.His5fs, NP_001287838.1:p.His222fs, NP_001350495.1:p.His245fs, NP_001356362.1:p.His73fs, NP_001356357.1:p.His73fs, NP_001356361.1:p.His73fs, NP_001356360.1:p.His73fs, NP_001287836.1:p.His73fs, NP_001356355.1:p.His245fs, NP_001356359.1:p.His73fs, NP_001356358.1:p.His73fs, NP_001356353.1:p.His73fs, NP_001356356.1:p.His245fs, NP_001356354.1:p.His174fs, XP_005274092.2:p.His245fs, XP_005274093.2:p.His222fs, XP_011543394.1:p.His174fs, XP_006718644.1:p.His222fs, XP_047283027.1:p.His245fs, XP_047283028.1:p.His151fs

                                16.

                                rs1455868458 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  11:68157751 (GRCh38)
                                  11:67925218 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:68157750:G:C
                                  Gene:
                                  KMT5B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.68157751G>C, NC_000011.9:g.67925218G>C, NG_052873.1:g.61022C>G, NM_017635.5:c.2595C>G, NM_017635.4:c.2595C>G, NM_017635.3:c.2595C>G, NM_001300908.2:c.1875C>G, NM_001300908.1:c.1875C>G, NM_001369433.1:c.2079C>G, NM_001369428.1:c.2079C>G, NM_001369432.1:c.2079C>G, NM_001369431.1:c.2079C>G, NM_001300907.1:c.2079C>G, NM_001369426.1:c.2595C>G, NM_001369430.1:c.2079C>G, NM_001369429.1:c.2079C>G, XM_005274035.5:c.2595C>G, XM_005274035.4:c.2595C>G, XM_005274035.3:c.2595C>G, XM_005274035.2:c.2595C>G, XM_005274035.1:c.2595C>G, XM_005274036.5:c.2526C>G, XM_005274036.4:c.2526C>G, XM_005274036.3:c.2526C>G, XM_005274036.2:c.2526C>G, XM_005274036.1:c.2526C>G, XM_011545092.4:c.2382C>G, XM_011545092.3:c.2382C>G, XM_011545092.2:c.2382C>G, XM_011545092.1:c.2382C>G, XM_006718581.2:c.2526C>G, XM_006718581.1:c.2526C>G, XM_024448570.2:c.1353C>G, XM_024448570.1:c.1353C>G, XM_047427071.1:c.2595C>G, XM_047427072.1:c.2313C>G, XM_047427073.1:c.1353C>G, NP_060105.3:p.Asp865Glu, NP_001287837.1:p.Asp625Glu, NP_001356362.1:p.Asp693Glu, NP_001356357.1:p.Asp693Glu, NP_001356361.1:p.Asp693Glu, NP_001356360.1:p.Asp693Glu, NP_001287836.1:p.Asp693Glu, NP_001356355.1:p.Asp865Glu, NP_001356359.1:p.Asp693Glu, NP_001356358.1:p.Asp693Glu, XP_005274092.2:p.Asp865Glu, XP_005274093.2:p.Asp842Glu, XP_011543394.1:p.Asp794Glu, XP_006718644.1:p.Asp842Glu, XP_024304338.1:p.Asp451Glu, XP_047283027.1:p.Asp865Glu, XP_047283028.1:p.Asp771Glu, XP_047283029.1:p.Asp451Glu

                                  17.

                                  rs1455134740 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:68157928 (GRCh38)
                                    11:67925395 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:68157927:A:G
                                    Gene:
                                    KMT5B (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000283/5 (TOMMO)
                                    G=0.001369/4 (KOREAN)
                                    HGVS:
                                    NC_000011.10:g.68157928A>G, NC_000011.9:g.67925395A>G, NG_052873.1:g.60845T>C, NM_017635.5:c.2418T>C, NM_017635.4:c.2418T>C, NM_017635.3:c.2418T>C, NM_001300908.2:c.1698T>C, NM_001300908.1:c.1698T>C, NM_001369433.1:c.1902T>C, NM_001369428.1:c.1902T>C, NM_001369432.1:c.1902T>C, NM_001369431.1:c.1902T>C, NM_001300907.1:c.1902T>C, NM_001369426.1:c.2418T>C, NM_001369430.1:c.1902T>C, NM_001369429.1:c.1902T>C, XM_005274035.5:c.2418T>C, XM_005274035.4:c.2418T>C, XM_005274035.3:c.2418T>C, XM_005274035.2:c.2418T>C, XM_005274035.1:c.2418T>C, XM_005274036.5:c.2349T>C, XM_005274036.4:c.2349T>C, XM_005274036.3:c.2349T>C, XM_005274036.2:c.2349T>C, XM_005274036.1:c.2349T>C, XM_011545092.4:c.2205T>C, XM_011545092.3:c.2205T>C, XM_011545092.2:c.2205T>C, XM_011545092.1:c.2205T>C, XM_006718581.2:c.2349T>C, XM_006718581.1:c.2349T>C, XM_024448570.2:c.1176T>C, XM_024448570.1:c.1176T>C, XM_047427071.1:c.2418T>C, XM_047427072.1:c.2136T>C, XM_047427073.1:c.1176T>C

                                    18.

                                    rs1453409725 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      11:68159151 (GRCh38)
                                      11:67926618 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:68159150:C:G
                                      Gene:
                                      KMT5B (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000011.10:g.68159151C>G, NC_000011.9:g.67926618C>G, NG_052873.1:g.59622G>C, NM_017635.5:c.1195G>C, NM_017635.4:c.1195G>C, NM_017635.3:c.1195G>C, NM_001300908.2:c.475G>C, NM_001300908.1:c.475G>C, NM_001369433.1:c.679G>C, NM_001369428.1:c.679G>C, NM_001369432.1:c.679G>C, NM_001369431.1:c.679G>C, NM_001300907.1:c.679G>C, NM_001369426.1:c.1195G>C, NM_001369430.1:c.679G>C, NM_001369429.1:c.679G>C, XM_005274035.5:c.1195G>C, XM_005274035.4:c.1195G>C, XM_005274035.3:c.1195G>C, XM_005274035.2:c.1195G>C, XM_005274035.1:c.1195G>C, XM_005274036.5:c.1126G>C, XM_005274036.4:c.1126G>C, XM_005274036.3:c.1126G>C, XM_005274036.2:c.1126G>C, XM_005274036.1:c.1126G>C, XM_011545092.4:c.982G>C, XM_011545092.3:c.982G>C, XM_011545092.2:c.982G>C, XM_011545092.1:c.982G>C, XM_006718581.2:c.1126G>C, XM_006718581.1:c.1126G>C, XM_024448570.2:c.-48G>C, XM_024448570.1:c.-48G>C, XM_047427071.1:c.1195G>C, XM_047427072.1:c.913G>C, XM_047427073.1:c.-48G>C, NP_060105.3:p.Val399Leu, NP_001287837.1:p.Val159Leu, NP_001356362.1:p.Val227Leu, NP_001356357.1:p.Val227Leu, NP_001356361.1:p.Val227Leu, NP_001356360.1:p.Val227Leu, NP_001287836.1:p.Val227Leu, NP_001356355.1:p.Val399Leu, NP_001356359.1:p.Val227Leu, NP_001356358.1:p.Val227Leu, XP_005274092.2:p.Val399Leu, XP_005274093.2:p.Val376Leu, XP_011543394.1:p.Val328Leu, XP_006718644.1:p.Val376Leu, XP_047283027.1:p.Val399Leu, XP_047283028.1:p.Val305Leu

                                      19.

                                      rs1451493475 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:68158938 (GRCh38)
                                        11:67926405 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:68158937:G:A
                                        Gene:
                                        KMT5B (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000043/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.68158938G>A, NC_000011.9:g.67926405G>A, NG_052873.1:g.59835C>T, NM_017635.5:c.1408C>T, NM_017635.4:c.1408C>T, NM_017635.3:c.1408C>T, NM_001300908.2:c.688C>T, NM_001300908.1:c.688C>T, NM_001369433.1:c.892C>T, NM_001369428.1:c.892C>T, NM_001369432.1:c.892C>T, NM_001369431.1:c.892C>T, NM_001300907.1:c.892C>T, NM_001369426.1:c.1408C>T, NM_001369430.1:c.892C>T, NM_001369429.1:c.892C>T, XM_005274035.5:c.1408C>T, XM_005274035.4:c.1408C>T, XM_005274035.3:c.1408C>T, XM_005274035.2:c.1408C>T, XM_005274035.1:c.1408C>T, XM_005274036.5:c.1339C>T, XM_005274036.4:c.1339C>T, XM_005274036.3:c.1339C>T, XM_005274036.2:c.1339C>T, XM_005274036.1:c.1339C>T, XM_011545092.4:c.1195C>T, XM_011545092.3:c.1195C>T, XM_011545092.2:c.1195C>T, XM_011545092.1:c.1195C>T, XM_006718581.2:c.1339C>T, XM_006718581.1:c.1339C>T, XM_024448570.2:c.166C>T, XM_024448570.1:c.166C>T, XM_047427071.1:c.1408C>T, XM_047427072.1:c.1126C>T, XM_047427073.1:c.166C>T, NP_060105.3:p.Leu470Phe, NP_001287837.1:p.Leu230Phe, NP_001356362.1:p.Leu298Phe, NP_001356357.1:p.Leu298Phe, NP_001356361.1:p.Leu298Phe, NP_001356360.1:p.Leu298Phe, NP_001287836.1:p.Leu298Phe, NP_001356355.1:p.Leu470Phe, NP_001356359.1:p.Leu298Phe, NP_001356358.1:p.Leu298Phe, XP_005274092.2:p.Leu470Phe, XP_005274093.2:p.Leu447Phe, XP_011543394.1:p.Leu399Phe, XP_006718644.1:p.Leu447Phe, XP_024304338.1:p.Leu56Phe, XP_047283027.1:p.Leu470Phe, XP_047283028.1:p.Leu376Phe, XP_047283029.1:p.Leu56Phe

                                        20.

                                        rs1449830180 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:68159043 (GRCh38)
                                          11:67926510 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:68159042:A:G
                                          Gene:
                                          KMT5B (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.68159043A>G, NC_000011.9:g.67926510A>G, NG_052873.1:g.59730T>C, NM_017635.5:c.1303T>C, NM_017635.4:c.1303T>C, NM_017635.3:c.1303T>C, NM_001300908.2:c.583T>C, NM_001300908.1:c.583T>C, NM_001369433.1:c.787T>C, NM_001369428.1:c.787T>C, NM_001369432.1:c.787T>C, NM_001369431.1:c.787T>C, NM_001300907.1:c.787T>C, NM_001369426.1:c.1303T>C, NM_001369430.1:c.787T>C, NM_001369429.1:c.787T>C, XM_005274035.5:c.1303T>C, XM_005274035.4:c.1303T>C, XM_005274035.3:c.1303T>C, XM_005274035.2:c.1303T>C, XM_005274035.1:c.1303T>C, XM_005274036.5:c.1234T>C, XM_005274036.4:c.1234T>C, XM_005274036.3:c.1234T>C, XM_005274036.2:c.1234T>C, XM_005274036.1:c.1234T>C, XM_011545092.4:c.1090T>C, XM_011545092.3:c.1090T>C, XM_011545092.2:c.1090T>C, XM_011545092.1:c.1090T>C, XM_006718581.2:c.1234T>C, XM_006718581.1:c.1234T>C, XM_024448570.2:c.61T>C, XM_024448570.1:c.61T>C, XM_047427071.1:c.1303T>C, XM_047427072.1:c.1021T>C, XM_047427073.1:c.61T>C, NP_060105.3:p.Ser435Pro, NP_001287837.1:p.Ser195Pro, NP_001356362.1:p.Ser263Pro, NP_001356357.1:p.Ser263Pro, NP_001356361.1:p.Ser263Pro, NP_001356360.1:p.Ser263Pro, NP_001287836.1:p.Ser263Pro, NP_001356355.1:p.Ser435Pro, NP_001356359.1:p.Ser263Pro, NP_001356358.1:p.Ser263Pro, XP_005274092.2:p.Ser435Pro, XP_005274093.2:p.Ser412Pro, XP_011543394.1:p.Ser364Pro, XP_006718644.1:p.Ser412Pro, XP_024304338.1:p.Ser21Pro, XP_047283027.1:p.Ser435Pro, XP_047283028.1:p.Ser341Pro, XP_047283029.1:p.Ser21Pro

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