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Items: 1 to 20 of 464

1.

rs1489586183 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>- [Show Flanks]
    Chromosome:
    14:74048369 (GRCh38)
    14:74515072 (GRCh37)
    Canonical SPDI:
    NC_000014.9:74048368:AA:A
    Gene:
    BBOF1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000014.9:g.74048370del, NC_000014.8:g.74515073del, NG_033060.1:g.34015del, XM_011537171.3:c.817del, XM_011537171.2:c.817del, XM_011537171.1:c.817del, XM_011537174.3:c.817del, XM_011537174.2:c.817del, XM_011537174.1:c.817del, XM_011537176.3:c.598del, XM_011537176.2:c.598del, XM_011537176.1:c.598del, XM_011537170.3:c.817del, XM_011537170.2:c.817del, XM_011537170.1:c.817del, XM_011537175.3:c.673del, XM_011537175.2:c.673del, XM_011537175.1:c.673del, XM_011537177.3:c.397del, XM_011537177.2:c.397del, XM_011537177.1:c.397del, XM_011537178.3:c.397del, XM_011537178.2:c.397del, XM_011537178.1:c.397del, XM_011537179.3:c.205del, XM_011537179.2:c.205del, XM_011537179.1:c.205del, XM_047431781.1:c.205del, XR_007064048.1:n.947del, XP_011535473.1:p.Ile273fs, XP_011535476.1:p.Ile273fs, XP_011535478.1:p.Ile200fs, XP_011535472.1:p.Ile273fs, XP_011535477.1:p.Ile225fs, XP_011535479.1:p.Ile133fs, XP_011535480.1:p.Ile133fs, XP_011535481.1:p.Ile69fs, XP_047287737.1:p.Ile69fs

    2.

    rs1487347283 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      14:74047932 (GRCh38)
      14:74514635 (GRCh37)
      Canonical SPDI:
      NC_000014.9:74047931:A:T
      Gene:
      BBOF1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000014.9:g.74047932A>T, NC_000014.8:g.74514635A>T, NG_033060.1:g.33577A>T, NM_025057.3:c.650A>T, NM_025057.2:c.650A>T, XM_005268092.4:c.650A>T, XM_005268092.3:c.650A>T, XM_005268092.2:c.650A>T, XM_005268092.1:c.650A>T, XM_011537171.3:c.650A>T, XM_011537171.2:c.650A>T, XM_011537171.1:c.650A>T, XM_011537174.3:c.650A>T, XM_011537174.2:c.650A>T, XM_011537174.1:c.650A>T, XM_011537176.3:c.431A>T, XM_011537176.2:c.431A>T, XM_011537176.1:c.431A>T, XM_011537170.3:c.650A>T, XM_011537170.2:c.650A>T, XM_011537170.1:c.650A>T, XM_011537175.3:c.506A>T, XM_011537175.2:c.506A>T, XM_011537175.1:c.506A>T, XM_011537177.3:c.230A>T, XM_011537177.2:c.230A>T, XM_011537177.1:c.230A>T, XM_011537178.3:c.230A>T, XM_011537178.2:c.230A>T, XM_011537178.1:c.230A>T, XM_011537179.3:c.38A>T, XM_011537179.2:c.38A>T, XM_011537179.1:c.38A>T, XM_017021660.2:c.230A>T, XM_017021660.1:c.230A>T, XM_017021661.2:c.230A>T, XM_017021661.1:c.230A>T, XM_017021662.2:c.38A>T, XM_017021662.1:c.38A>T, XM_047431778.1:c.650A>T, XM_047431779.1:c.506A>T, XM_047431781.1:c.38A>T, XR_007064048.1:n.780A>T, XM_047431780.1:c.230A>T, XR_007064049.1:n.780A>T, XM_047431782.1:c.38A>T, XM_047431785.1:c.650A>T, NP_079333.2:p.Gln217Leu, XP_005268149.1:p.Gln217Leu, XP_011535473.1:p.Gln217Leu, XP_011535476.1:p.Gln217Leu, XP_011535478.1:p.Gln144Leu, XP_011535472.1:p.Gln217Leu, XP_011535477.1:p.Gln169Leu, XP_011535479.1:p.Gln77Leu, XP_011535480.1:p.Gln77Leu, XP_011535481.1:p.Gln13Leu, XP_016877149.1:p.Gln77Leu, XP_016877150.1:p.Gln77Leu, XP_016877151.1:p.Gln13Leu, XP_047287734.1:p.Gln217Leu, XP_047287735.1:p.Gln169Leu, XP_047287737.1:p.Gln13Leu, XP_047287736.1:p.Gln77Leu, XP_047287738.1:p.Gln13Leu, XP_047287741.1:p.Gln217Leu

      3.

      rs1485351640 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:74048028 (GRCh38)
        14:74514731 (GRCh37)
        Canonical SPDI:
        NC_000014.9:74048027:A:G
        Gene:
        BBOF1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.74048028A>G, NC_000014.8:g.74514731A>G, NG_033060.1:g.33673A>G, NM_025057.3:c.746A>G, NM_025057.2:c.746A>G, XM_005268092.4:c.746A>G, XM_005268092.3:c.746A>G, XM_005268092.2:c.746A>G, XM_005268092.1:c.746A>G, XM_011537171.3:c.746A>G, XM_011537171.2:c.746A>G, XM_011537171.1:c.746A>G, XM_011537174.3:c.746A>G, XM_011537174.2:c.746A>G, XM_011537174.1:c.746A>G, XM_011537176.3:c.527A>G, XM_011537176.2:c.527A>G, XM_011537176.1:c.527A>G, XM_011537170.3:c.746A>G, XM_011537170.2:c.746A>G, XM_011537170.1:c.746A>G, XM_011537175.3:c.602A>G, XM_011537175.2:c.602A>G, XM_011537175.1:c.602A>G, XM_011537177.3:c.326A>G, XM_011537177.2:c.326A>G, XM_011537177.1:c.326A>G, XM_011537178.3:c.326A>G, XM_011537178.2:c.326A>G, XM_011537178.1:c.326A>G, XM_011537179.3:c.134A>G, XM_011537179.2:c.134A>G, XM_011537179.1:c.134A>G, XM_017021660.2:c.326A>G, XM_017021660.1:c.326A>G, XM_017021661.2:c.326A>G, XM_017021661.1:c.326A>G, XM_017021662.2:c.134A>G, XM_017021662.1:c.134A>G, XM_047431778.1:c.746A>G, XM_047431779.1:c.602A>G, XM_047431781.1:c.134A>G, XR_007064048.1:n.876A>G, XM_047431780.1:c.326A>G, XR_007064049.1:n.876A>G, XM_047431782.1:c.134A>G, XM_047431785.1:c.746A>G, NP_079333.2:p.Asn249Ser, XP_005268149.1:p.Asn249Ser, XP_011535473.1:p.Asn249Ser, XP_011535476.1:p.Asn249Ser, XP_011535478.1:p.Asn176Ser, XP_011535472.1:p.Asn249Ser, XP_011535477.1:p.Asn201Ser, XP_011535479.1:p.Asn109Ser, XP_011535480.1:p.Asn109Ser, XP_011535481.1:p.Asn45Ser, XP_016877149.1:p.Asn109Ser, XP_016877150.1:p.Asn109Ser, XP_016877151.1:p.Asn45Ser, XP_047287734.1:p.Asn249Ser, XP_047287735.1:p.Asn201Ser, XP_047287737.1:p.Asn45Ser, XP_047287736.1:p.Asn109Ser, XP_047287738.1:p.Asn45Ser, XP_047287741.1:p.Asn249Ser

        4.

        rs1483785723 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AATGTCAGTATTAAGTTACCTGAAGAAGCAGGATCAGGAGAAAGA>- [Show Flanks]
          Chromosome:
          14:74023093 (GRCh38)
          14:74489796 (GRCh37)
          Canonical SPDI:
          NC_000014.9:74023092:AATGTCAGTATTAAGTTACCTGAAGAAGCAGGATCAGGAGAAAGA:
          Gene:
          BBOF1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,inframe_deletion
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00008/1 (ALFA)
          HGVS:
          NC_000014.9:g.74023093_74023137del, NC_000014.8:g.74489796_74489840del, NG_033060.1:g.8738_8782del, NM_025057.3:c.234_278del, NM_025057.2:c.234_278del, XM_005268092.4:c.234_278del, XM_005268092.3:c.234_278del, XM_005268092.2:c.234_278del, XM_005268092.1:c.234_278del, XM_011537171.3:c.234_278del, XM_011537171.2:c.234_278del, XM_011537171.1:c.234_278del, XM_011537174.3:c.234_278del, XM_011537174.2:c.234_278del, XM_011537174.1:c.234_278del, XM_011537176.3:c.15_59del, XM_011537176.2:c.15_59del, XM_011537176.1:c.15_59del, XM_011537170.3:c.234_278del, XM_011537170.2:c.234_278del, XM_011537170.1:c.234_278del, XM_011537175.3:c.234_278del, XM_011537175.2:c.234_278del, XM_011537175.1:c.234_278del, XM_011537178.3:c.-191_-147del, XM_011537178.2:c.-191_-147del, XM_011537178.1:c.-191_-147del, XM_017021663.2:c.234_278del, XM_017021663.1:c.234_278del, XM_047431778.1:c.234_278del, XM_047431779.1:c.234_278del, XR_007064048.1:n.364_408del, XR_007064049.1:n.364_408del, XM_047431783.1:c.234_278del, XM_047431784.1:c.234_278del, XM_047431785.1:c.234_278del, NP_079333.2:p.Met79_Asp93del, XP_005268149.1:p.Met79_Asp93del, XP_011535473.1:p.Met79_Asp93del, XP_011535476.1:p.Met79_Asp93del, XP_011535478.1:p.Met6_Asp20del, XP_011535472.1:p.Met79_Asp93del, XP_011535477.1:p.Met79_Asp93del, XP_016877152.1:p.Met79_Asp93del, XP_047287734.1:p.Met79_Asp93del, XP_047287735.1:p.Met79_Asp93del, XP_047287739.1:p.Met79_Asp93del, XP_047287740.1:p.Met79_Asp93del, XP_047287741.1:p.Met79_Asp93del

          5.

          rs1482961294 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            14:74048068 (GRCh38)
            14:74514771 (GRCh37)
            Canonical SPDI:
            NC_000014.9:74048067:T:A
            Gene:
            BBOF1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000014.9:g.74048068T>A, NC_000014.8:g.74514771T>A, NG_033060.1:g.33713T>A, NM_025057.3:c.786T>A, NM_025057.2:c.786T>A, XM_005268092.4:c.786T>A, XM_005268092.3:c.786T>A, XM_005268092.2:c.786T>A, XM_005268092.1:c.786T>A, XM_011537171.3:c.786T>A, XM_011537171.2:c.786T>A, XM_011537171.1:c.786T>A, XM_011537174.3:c.786T>A, XM_011537174.2:c.786T>A, XM_011537174.1:c.786T>A, XM_011537176.3:c.567T>A, XM_011537176.2:c.567T>A, XM_011537176.1:c.567T>A, XM_011537170.3:c.786T>A, XM_011537170.2:c.786T>A, XM_011537170.1:c.786T>A, XM_011537175.3:c.642T>A, XM_011537175.2:c.642T>A, XM_011537175.1:c.642T>A, XM_011537177.3:c.366T>A, XM_011537177.2:c.366T>A, XM_011537177.1:c.366T>A, XM_011537178.3:c.366T>A, XM_011537178.2:c.366T>A, XM_011537178.1:c.366T>A, XM_011537179.3:c.174T>A, XM_011537179.2:c.174T>A, XM_011537179.1:c.174T>A, XM_017021660.2:c.366T>A, XM_017021660.1:c.366T>A, XM_017021661.2:c.366T>A, XM_017021661.1:c.366T>A, XM_017021662.2:c.174T>A, XM_017021662.1:c.174T>A, XM_047431778.1:c.786T>A, XM_047431779.1:c.642T>A, XM_047431781.1:c.174T>A, XR_007064048.1:n.916T>A, XM_047431780.1:c.366T>A, XR_007064049.1:n.916T>A, XM_047431782.1:c.174T>A, XM_047431785.1:c.786T>A, NP_079333.2:p.His262Gln, XP_005268149.1:p.His262Gln, XP_011535473.1:p.His262Gln, XP_011535476.1:p.His262Gln, XP_011535478.1:p.His189Gln, XP_011535472.1:p.His262Gln, XP_011535477.1:p.His214Gln, XP_011535479.1:p.His122Gln, XP_011535480.1:p.His122Gln, XP_011535481.1:p.His58Gln, XP_016877149.1:p.His122Gln, XP_016877150.1:p.His122Gln, XP_016877151.1:p.His58Gln, XP_047287734.1:p.His262Gln, XP_047287735.1:p.His214Gln, XP_047287737.1:p.His58Gln, XP_047287736.1:p.His122Gln, XP_047287738.1:p.His58Gln, XP_047287741.1:p.His262Gln

            6.

            rs1482177338 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              14:74056966 (GRCh38)
              14:74523669 (GRCh37)
              Canonical SPDI:
              NC_000014.9:74056965:A:T
              Gene:
              ALDH6A1 (Varview), BBOF1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000014.9:g.74056966A>T, NC_000014.8:g.74523669A>T, NG_012257.2:g.32528T>A, NM_005589.4:c.*3676T>A, NM_001278594.2:c.*3676T>A, NM_001278593.2:c.*3676T>A, NG_033060.1:g.42611A>T, NM_025057.3:c.1449A>T, NM_025057.2:c.1449A>T, XM_005268092.4:c.1449A>T, XM_005268092.3:c.1449A>T, XM_005268092.2:c.1449A>T, XM_005268092.1:c.1449A>T, XM_011537171.3:c.1557A>T, XM_011537171.2:c.1557A>T, XM_011537171.1:c.1557A>T, XM_011537174.3:c.1557A>T, XM_011537174.2:c.1557A>T, XM_011537174.1:c.1557A>T, XM_011537176.3:c.1338A>T, XM_011537176.2:c.1338A>T, XM_011537176.1:c.1338A>T, XM_011537170.3:c.1557A>T, XM_011537170.2:c.1557A>T, XM_011537170.1:c.1557A>T, XM_011537175.3:c.1413A>T, XM_011537175.2:c.1413A>T, XM_011537175.1:c.1413A>T, XM_011537177.3:c.1137A>T, XM_011537177.2:c.1137A>T, XM_011537177.1:c.1137A>T, XM_011537178.3:c.1137A>T, XM_011537178.2:c.1137A>T, XM_011537178.1:c.1137A>T, XM_011537179.3:c.945A>T, XM_011537179.2:c.945A>T, XM_011537179.1:c.945A>T, XM_017021660.2:c.1029A>T, XM_017021660.1:c.1029A>T, XM_017021661.2:c.1029A>T, XM_017021661.1:c.1029A>T, XM_017021662.2:c.837A>T, XM_017021662.1:c.837A>T, XM_017021663.2:c.810A>T, XM_017021663.1:c.810A>T, XM_047431778.1:c.1449A>T, XM_047431779.1:c.1305A>T, XM_047431781.1:c.945A>T, XR_007064048.1:n.1687A>T, XM_047431780.1:c.1029A>T, XR_007064049.1:n.1579A>T, XM_047431782.1:c.837A>T, XM_047431783.1:c.810A>T, NP_079333.2:p.Glu483Asp, XP_005268149.1:p.Glu483Asp, XP_011535473.1:p.Glu519Asp, XP_011535476.1:p.Glu519Asp, XP_011535478.1:p.Glu446Asp, XP_011535472.1:p.Glu519Asp, XP_011535477.1:p.Glu471Asp, XP_011535479.1:p.Glu379Asp, XP_011535480.1:p.Glu379Asp, XP_011535481.1:p.Glu315Asp, XP_016877149.1:p.Glu343Asp, XP_016877150.1:p.Glu343Asp, XP_016877151.1:p.Glu279Asp, XP_016877152.1:p.Glu270Asp, XP_047287734.1:p.Glu483Asp, XP_047287735.1:p.Glu435Asp, XP_047287737.1:p.Glu315Asp, XP_047287736.1:p.Glu343Asp, XP_047287738.1:p.Glu279Asp, XP_047287739.1:p.Glu270Asp

              7.

              rs1480248462 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                14:74049800 (GRCh38)
                14:74516503 (GRCh37)
                Canonical SPDI:
                NC_000014.9:74049799:T:G
                Gene:
                BBOF1 (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.74049800T>G, NC_000014.8:g.74516503T>G, NG_033060.1:g.35445T>G, NM_025057.3:c.891T>G, NM_025057.2:c.891T>G, XM_005268092.4:c.891T>G, XM_005268092.3:c.891T>G, XM_005268092.2:c.891T>G, XM_005268092.1:c.891T>G, XM_011537171.3:c.999T>G, XM_011537171.2:c.999T>G, XM_011537171.1:c.999T>G, XM_011537174.3:c.999T>G, XM_011537174.2:c.999T>G, XM_011537174.1:c.999T>G, XM_011537176.3:c.780T>G, XM_011537176.2:c.780T>G, XM_011537176.1:c.780T>G, XM_011537170.3:c.999T>G, XM_011537170.2:c.999T>G, XM_011537170.1:c.999T>G, XM_011537175.3:c.855T>G, XM_011537175.2:c.855T>G, XM_011537175.1:c.855T>G, XM_011537177.3:c.579T>G, XM_011537177.2:c.579T>G, XM_011537177.1:c.579T>G, XM_011537178.3:c.579T>G, XM_011537178.2:c.579T>G, XM_011537178.1:c.579T>G, XM_011537179.3:c.387T>G, XM_011537179.2:c.387T>G, XM_011537179.1:c.387T>G, XM_017021660.2:c.471T>G, XM_017021660.1:c.471T>G, XM_017021661.2:c.471T>G, XM_017021661.1:c.471T>G, XM_017021662.2:c.279T>G, XM_017021662.1:c.279T>G, XM_047431778.1:c.891T>G, XM_047431779.1:c.747T>G, XM_047431781.1:c.387T>G, XR_007064048.1:n.1129T>G, XM_047431780.1:c.471T>G, XR_007064049.1:n.1021T>G, XM_047431782.1:c.279T>G

                8.

                rs1477616687 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:74029208 (GRCh38)
                  14:74495911 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:74029207:A:G
                  Gene:
                  BBOF1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000028/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000014.9:g.74029208A>G, NC_000014.8:g.74495911A>G, NG_033060.1:g.14853A>G, NM_025057.3:c.310A>G, NM_025057.2:c.310A>G, XM_005268092.4:c.310A>G, XM_005268092.3:c.310A>G, XM_005268092.2:c.310A>G, XM_005268092.1:c.310A>G, XM_011537171.3:c.310A>G, XM_011537171.2:c.310A>G, XM_011537171.1:c.310A>G, XM_011537174.3:c.310A>G, XM_011537174.2:c.310A>G, XM_011537174.1:c.310A>G, XM_011537176.3:c.91A>G, XM_011537176.2:c.91A>G, XM_011537176.1:c.91A>G, XM_011537170.3:c.310A>G, XM_011537170.2:c.310A>G, XM_011537170.1:c.310A>G, XM_011537175.3:c.310A>G, XM_011537175.2:c.310A>G, XM_011537175.1:c.310A>G, XM_011537177.3:c.-111A>G, XM_011537177.2:c.-111A>G, XM_011537177.1:c.-111A>G, XM_011537178.3:c.-111A>G, XM_011537178.2:c.-111A>G, XM_011537178.1:c.-111A>G, XM_011537179.3:c.-159A>G, XM_011537179.2:c.-159A>G, XM_011537179.1:c.-159A>G, XM_017021660.2:c.-111A>G, XM_017021660.1:c.-111A>G, XM_017021661.2:c.-111A>G, XM_017021661.1:c.-111A>G, XM_017021662.2:c.-159A>G, XM_017021662.1:c.-159A>G, XM_017021663.2:c.310A>G, XM_017021663.1:c.310A>G, XM_047431778.1:c.310A>G, XM_047431779.1:c.310A>G, XM_047431781.1:c.-159A>G, XR_007064048.1:n.440A>G, XM_047431780.1:c.-111A>G, XR_007064049.1:n.440A>G, XM_047431782.1:c.-159A>G, XM_047431783.1:c.310A>G, XM_047431784.1:c.310A>G, XM_047431785.1:c.310A>G, NP_079333.2:p.Asn104Asp, XP_005268149.1:p.Asn104Asp, XP_011535473.1:p.Asn104Asp, XP_011535476.1:p.Asn104Asp, XP_011535478.1:p.Asn31Asp, XP_011535472.1:p.Asn104Asp, XP_011535477.1:p.Asn104Asp, XP_016877152.1:p.Asn104Asp, XP_047287734.1:p.Asn104Asp, XP_047287735.1:p.Asn104Asp, XP_047287739.1:p.Asn104Asp, XP_047287740.1:p.Asn104Asp, XP_047287741.1:p.Asn104Asp

                  9.

                  rs1476682906 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:74049819 (GRCh38)
                    14:74516522 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:74049818:A:G
                    Gene:
                    BBOF1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000014.9:g.74049819A>G, NC_000014.8:g.74516522A>G, NG_033060.1:g.35464A>G, NM_025057.3:c.910A>G, NM_025057.2:c.910A>G, XM_005268092.4:c.910A>G, XM_005268092.3:c.910A>G, XM_005268092.2:c.910A>G, XM_005268092.1:c.910A>G, XM_011537171.3:c.1018A>G, XM_011537171.2:c.1018A>G, XM_011537171.1:c.1018A>G, XM_011537174.3:c.1018A>G, XM_011537174.2:c.1018A>G, XM_011537174.1:c.1018A>G, XM_011537176.3:c.799A>G, XM_011537176.2:c.799A>G, XM_011537176.1:c.799A>G, XM_011537170.3:c.1018A>G, XM_011537170.2:c.1018A>G, XM_011537170.1:c.1018A>G, XM_011537175.3:c.874A>G, XM_011537175.2:c.874A>G, XM_011537175.1:c.874A>G, XM_011537177.3:c.598A>G, XM_011537177.2:c.598A>G, XM_011537177.1:c.598A>G, XM_011537178.3:c.598A>G, XM_011537178.2:c.598A>G, XM_011537178.1:c.598A>G, XM_011537179.3:c.406A>G, XM_011537179.2:c.406A>G, XM_011537179.1:c.406A>G, XM_017021660.2:c.490A>G, XM_017021660.1:c.490A>G, XM_017021661.2:c.490A>G, XM_017021661.1:c.490A>G, XM_017021662.2:c.298A>G, XM_017021662.1:c.298A>G, XM_047431778.1:c.910A>G, XM_047431779.1:c.766A>G, XM_047431781.1:c.406A>G, XR_007064048.1:n.1148A>G, XM_047431780.1:c.490A>G, XR_007064049.1:n.1040A>G, XM_047431782.1:c.298A>G, NP_079333.2:p.Lys304Glu, XP_005268149.1:p.Lys304Glu, XP_011535473.1:p.Lys340Glu, XP_011535476.1:p.Lys340Glu, XP_011535478.1:p.Lys267Glu, XP_011535472.1:p.Lys340Glu, XP_011535477.1:p.Lys292Glu, XP_011535479.1:p.Lys200Glu, XP_011535480.1:p.Lys200Glu, XP_011535481.1:p.Lys136Glu, XP_016877149.1:p.Lys164Glu, XP_016877150.1:p.Lys164Glu, XP_016877151.1:p.Lys100Glu, XP_047287734.1:p.Lys304Glu, XP_047287735.1:p.Lys256Glu, XP_047287737.1:p.Lys136Glu, XP_047287736.1:p.Lys164Glu, XP_047287738.1:p.Lys100Glu

                    10.

                    rs1476086398 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:74057231 (GRCh38)
                      14:74523934 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:74057230:T:C
                      Gene:
                      ALDH6A1 (Varview), BBOF1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000011/3 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000014.9:g.74057231T>C, NC_000014.8:g.74523934T>C, NG_012257.2:g.32263A>G, NM_005589.4:c.*3411A>G, NM_001278594.2:c.*3411A>G, NM_001278593.2:c.*3411A>G, NG_033060.1:g.42876T>C, NM_025057.3:c.1551T>C, NM_025057.2:c.1551T>C, XM_005268092.4:c.1551T>C, XM_005268092.3:c.1551T>C, XM_005268092.2:c.1551T>C, XM_005268092.1:c.1551T>C, XM_011537171.3:c.1659T>C, XM_011537171.2:c.1659T>C, XM_011537171.1:c.1659T>C, XM_011537174.3:c.1659T>C, XM_011537174.2:c.1659T>C, XM_011537174.1:c.1659T>C, XM_011537176.3:c.1440T>C, XM_011537176.2:c.1440T>C, XM_011537176.1:c.1440T>C, XM_011537170.3:c.1659T>C, XM_011537170.2:c.1659T>C, XM_011537170.1:c.1659T>C, XM_011537175.3:c.1515T>C, XM_011537175.2:c.1515T>C, XM_011537175.1:c.1515T>C, XM_011537177.3:c.1239T>C, XM_011537177.2:c.1239T>C, XM_011537177.1:c.1239T>C, XM_011537178.3:c.1239T>C, XM_011537178.2:c.1239T>C, XM_011537178.1:c.1239T>C, XM_011537179.3:c.1047T>C, XM_011537179.2:c.1047T>C, XM_011537179.1:c.1047T>C, XM_017021660.2:c.1131T>C, XM_017021660.1:c.1131T>C, XM_017021661.2:c.1131T>C, XM_017021661.1:c.1131T>C, XM_017021662.2:c.939T>C, XM_017021662.1:c.939T>C, XM_017021663.2:c.912T>C, XM_017021663.1:c.912T>C, XM_047431778.1:c.1551T>C, XM_047431779.1:c.1407T>C, XM_047431781.1:c.1047T>C, XR_007064048.1:n.1789T>C, XM_047431780.1:c.1131T>C, XR_007064049.1:n.1681T>C, XM_047431782.1:c.939T>C, XM_047431783.1:c.912T>C

                      11.

                      rs1473802830 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:74055620 (GRCh38)
                        14:74522323 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:74055619:G:A
                        Gene:
                        BBOF1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000014.9:g.74055620G>A, NC_000014.8:g.74522323G>A, NG_033060.1:g.41265G>A, NM_025057.3:c.1323G>A, NM_025057.2:c.1323G>A, XM_005268092.4:c.1323G>A, XM_005268092.3:c.1323G>A, XM_005268092.2:c.1323G>A, XM_005268092.1:c.1323G>A, XM_011537171.3:c.1431G>A, XM_011537171.2:c.1431G>A, XM_011537171.1:c.1431G>A, XM_011537174.3:c.1431G>A, XM_011537174.2:c.1431G>A, XM_011537174.1:c.1431G>A, XM_011537176.3:c.1212G>A, XM_011537176.2:c.1212G>A, XM_011537176.1:c.1212G>A, XM_011537170.3:c.1431G>A, XM_011537170.2:c.1431G>A, XM_011537170.1:c.1431G>A, XM_011537175.3:c.1287G>A, XM_011537175.2:c.1287G>A, XM_011537175.1:c.1287G>A, XM_011537177.3:c.1011G>A, XM_011537177.2:c.1011G>A, XM_011537177.1:c.1011G>A, XM_011537178.3:c.1011G>A, XM_011537178.2:c.1011G>A, XM_011537178.1:c.1011G>A, XM_011537179.3:c.819G>A, XM_011537179.2:c.819G>A, XM_011537179.1:c.819G>A, XM_017021660.2:c.903G>A, XM_017021660.1:c.903G>A, XM_017021661.2:c.903G>A, XM_017021661.1:c.903G>A, XM_017021662.2:c.711G>A, XM_017021662.1:c.711G>A, XM_017021663.2:c.684G>A, XM_017021663.1:c.684G>A, XM_047431778.1:c.1323G>A, XM_047431779.1:c.1179G>A, XM_047431781.1:c.819G>A, XR_007064048.1:n.1561G>A, XM_047431780.1:c.903G>A, XR_007064049.1:n.1453G>A, XM_047431782.1:c.711G>A, XM_047431783.1:c.684G>A, XM_047431785.1:c.*25G>A

                        12.

                        rs1470471503 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:74057377 (GRCh38)
                          14:74524080 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:74057376:G:A
                          Gene:
                          ALDH6A1 (Varview), BBOF1 (Varview)
                          Functional Consequence:
                          terminator_codon_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000014.9:g.74057377G>A, NC_000014.8:g.74524080G>A, NG_012257.2:g.32117C>T, NM_005589.4:c.*3265C>T, NM_001278594.2:c.*3265C>T, NM_001278593.2:c.*3265C>T, NG_033060.1:g.43022G>A, XM_005268092.4:c.1697G>A, XM_005268092.3:c.1697G>A, XM_005268092.2:c.1697G>A, XM_005268092.1:c.1697G>A, XM_011537176.3:c.1586G>A, XM_011537176.2:c.1586G>A, XM_011537176.1:c.1586G>A, XM_011537170.3:c.1805G>A, XM_011537170.2:c.1805G>A, XM_011537170.1:c.1805G>A, XM_011537175.3:c.1661G>A, XM_011537175.2:c.1661G>A, XM_011537175.1:c.1661G>A, XM_011537177.3:c.1385G>A, XM_011537177.2:c.1385G>A, XM_011537177.1:c.1385G>A, XM_011537178.3:c.1385G>A, XM_011537178.2:c.1385G>A, XM_011537178.1:c.1385G>A, XM_011537179.3:c.1193G>A, XM_011537179.2:c.1193G>A, XM_011537179.1:c.1193G>A, XM_047431780.1:c.1277G>A, XM_047431782.1:c.1085G>A, XM_047431783.1:c.1058G>A

                          13.

                          rs1469504852 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            14:74034100 (GRCh38)
                            14:74500803 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:74034099:A:G,NC_000014.9:74034099:A:T
                            Gene:
                            BBOF1 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            G=0.000015/4 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000014.9:g.74034100A>G, NC_000014.9:g.74034100A>T, NC_000014.8:g.74500803A>G, NC_000014.8:g.74500803A>T, NG_033060.1:g.19745A>G, NG_033060.1:g.19745A>T, NM_025057.3:c.424A>G, NM_025057.3:c.424A>T, NM_025057.2:c.424A>G, NM_025057.2:c.424A>T, XM_005268092.4:c.424A>G, XM_005268092.4:c.424A>T, XM_005268092.3:c.424A>G, XM_005268092.3:c.424A>T, XM_005268092.2:c.424A>G, XM_005268092.2:c.424A>T, XM_005268092.1:c.424A>G, XM_005268092.1:c.424A>T, XM_011537171.3:c.424A>G, XM_011537171.3:c.424A>T, XM_011537171.2:c.424A>G, XM_011537171.2:c.424A>T, XM_011537171.1:c.424A>G, XM_011537171.1:c.424A>T, XM_011537174.3:c.424A>G, XM_011537174.3:c.424A>T, XM_011537174.2:c.424A>G, XM_011537174.2:c.424A>T, XM_011537174.1:c.424A>G, XM_011537174.1:c.424A>T, XM_011537176.3:c.205A>G, XM_011537176.3:c.205A>T, XM_011537176.2:c.205A>G, XM_011537176.2:c.205A>T, XM_011537176.1:c.205A>G, XM_011537176.1:c.205A>T, XM_011537170.3:c.424A>G, XM_011537170.3:c.424A>T, XM_011537170.2:c.424A>G, XM_011537170.2:c.424A>T, XM_011537170.1:c.424A>G, XM_011537170.1:c.424A>T, XM_011537177.3:c.4A>G, XM_011537177.3:c.4A>T, XM_011537177.2:c.4A>G, XM_011537177.2:c.4A>T, XM_011537177.1:c.4A>G, XM_011537177.1:c.4A>T, XM_011537178.3:c.4A>G, XM_011537178.3:c.4A>T, XM_011537178.2:c.4A>G, XM_011537178.2:c.4A>T, XM_011537178.1:c.4A>G, XM_011537178.1:c.4A>T, XM_017021660.2:c.4A>G, XM_017021660.2:c.4A>T, XM_017021660.1:c.4A>G, XM_017021660.1:c.4A>T, XM_017021661.2:c.4A>G, XM_017021661.2:c.4A>T, XM_017021661.1:c.4A>G, XM_017021661.1:c.4A>T, XM_017021663.2:c.424A>G, XM_017021663.2:c.424A>T, XM_017021663.1:c.424A>G, XM_017021663.1:c.424A>T, XM_047431778.1:c.424A>G, XM_047431778.1:c.424A>T, XR_007064048.1:n.554A>G, XR_007064048.1:n.554A>T, XM_047431780.1:c.4A>G, XM_047431780.1:c.4A>T, XR_007064049.1:n.554A>G, XR_007064049.1:n.554A>T, XM_047431783.1:c.424A>G, XM_047431783.1:c.424A>T, XM_047431784.1:c.424A>G, XM_047431784.1:c.424A>T, XM_047431785.1:c.424A>G, XM_047431785.1:c.424A>T, NP_079333.2:p.Ile142Val, NP_079333.2:p.Ile142Phe, XP_005268149.1:p.Ile142Val, XP_005268149.1:p.Ile142Phe, XP_011535473.1:p.Ile142Val, XP_011535473.1:p.Ile142Phe, XP_011535476.1:p.Ile142Val, XP_011535476.1:p.Ile142Phe, XP_011535478.1:p.Ile69Val, XP_011535478.1:p.Ile69Phe, XP_011535472.1:p.Ile142Val, XP_011535472.1:p.Ile142Phe, XP_011535479.1:p.Ile2Val, XP_011535479.1:p.Ile2Phe, XP_011535480.1:p.Ile2Val, XP_011535480.1:p.Ile2Phe, XP_016877149.1:p.Ile2Val, XP_016877149.1:p.Ile2Phe, XP_016877150.1:p.Ile2Val, XP_016877150.1:p.Ile2Phe, XP_016877152.1:p.Ile142Val, XP_016877152.1:p.Ile142Phe, XP_047287734.1:p.Ile142Val, XP_047287734.1:p.Ile142Phe, XP_047287736.1:p.Ile2Val, XP_047287736.1:p.Ile2Phe, XP_047287739.1:p.Ile142Val, XP_047287739.1:p.Ile142Phe, XP_047287740.1:p.Ile142Val, XP_047287740.1:p.Ile142Phe, XP_047287741.1:p.Ile142Val, XP_047287741.1:p.Ile142Phe

                            14.

                            rs1469459272 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              14:74049740 (GRCh38)
                              14:74516443 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:74049739:A:G
                              Gene:
                              BBOF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,genic_downstream_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)
                              G=0.000007/1 (GnomAD)
                              G=0.000212/4 (TOMMO)
                              HGVS:
                              NC_000014.9:g.74049740A>G, NC_000014.8:g.74516443A>G, NG_033060.1:g.35385A>G, NM_025057.3:c.831A>G, NM_025057.2:c.831A>G, XM_005268092.4:c.831A>G, XM_005268092.3:c.831A>G, XM_005268092.2:c.831A>G, XM_005268092.1:c.831A>G, XM_011537171.3:c.939A>G, XM_011537171.2:c.939A>G, XM_011537171.1:c.939A>G, XM_011537174.3:c.939A>G, XM_011537174.2:c.939A>G, XM_011537174.1:c.939A>G, XM_011537176.3:c.720A>G, XM_011537176.2:c.720A>G, XM_011537176.1:c.720A>G, XM_011537170.3:c.939A>G, XM_011537170.2:c.939A>G, XM_011537170.1:c.939A>G, XM_011537175.3:c.795A>G, XM_011537175.2:c.795A>G, XM_011537175.1:c.795A>G, XM_011537177.3:c.519A>G, XM_011537177.2:c.519A>G, XM_011537177.1:c.519A>G, XM_011537178.3:c.519A>G, XM_011537178.2:c.519A>G, XM_011537178.1:c.519A>G, XM_011537179.3:c.327A>G, XM_011537179.2:c.327A>G, XM_011537179.1:c.327A>G, XM_017021660.2:c.411A>G, XM_017021660.1:c.411A>G, XM_017021661.2:c.411A>G, XM_017021661.1:c.411A>G, XM_017021662.2:c.219A>G, XM_017021662.1:c.219A>G, XM_047431778.1:c.831A>G, XM_047431779.1:c.687A>G, XM_047431781.1:c.327A>G, XR_007064048.1:n.1069A>G, XM_047431780.1:c.411A>G, XR_007064049.1:n.961A>G, XM_047431782.1:c.219A>G

                              15.

                              rs1469003732 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:74055649 (GRCh38)
                                14:74522352 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:74055648:G:A
                                Gene:
                                BBOF1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000108/2 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000012/3 (GnomAD_exomes)
                                A=0.000015/4 (TOPMED)
                                A=0.000223/1 (Estonian)
                                A=0.000248/4 (TOMMO)
                                A=0.001027/3 (KOREAN)
                                A=0.001092/2 (Korea1K)
                                HGVS:
                                NC_000014.9:g.74055649G>A, NC_000014.8:g.74522352G>A, NG_033060.1:g.41294G>A, NM_025057.3:c.1352G>A, NM_025057.2:c.1352G>A, XM_005268092.4:c.1352G>A, XM_005268092.3:c.1352G>A, XM_005268092.2:c.1352G>A, XM_005268092.1:c.1352G>A, XM_011537171.3:c.1460G>A, XM_011537171.2:c.1460G>A, XM_011537171.1:c.1460G>A, XM_011537174.3:c.1460G>A, XM_011537174.2:c.1460G>A, XM_011537174.1:c.1460G>A, XM_011537176.3:c.1241G>A, XM_011537176.2:c.1241G>A, XM_011537176.1:c.1241G>A, XM_011537170.3:c.1460G>A, XM_011537170.2:c.1460G>A, XM_011537170.1:c.1460G>A, XM_011537175.3:c.1316G>A, XM_011537175.2:c.1316G>A, XM_011537175.1:c.1316G>A, XM_011537177.3:c.1040G>A, XM_011537177.2:c.1040G>A, XM_011537177.1:c.1040G>A, XM_011537178.3:c.1040G>A, XM_011537178.2:c.1040G>A, XM_011537178.1:c.1040G>A, XM_011537179.3:c.848G>A, XM_011537179.2:c.848G>A, XM_011537179.1:c.848G>A, XM_017021660.2:c.932G>A, XM_017021660.1:c.932G>A, XM_017021661.2:c.932G>A, XM_017021661.1:c.932G>A, XM_017021662.2:c.740G>A, XM_017021662.1:c.740G>A, XM_017021663.2:c.713G>A, XM_017021663.1:c.713G>A, XM_047431778.1:c.1352G>A, XM_047431779.1:c.1208G>A, XM_047431781.1:c.848G>A, XR_007064048.1:n.1590G>A, XM_047431780.1:c.932G>A, XR_007064049.1:n.1482G>A, XM_047431782.1:c.740G>A, XM_047431783.1:c.713G>A, XM_047431785.1:c.*54G>A, NP_079333.2:p.Arg451Gln, XP_005268149.1:p.Arg451Gln, XP_011535473.1:p.Arg487Gln, XP_011535476.1:p.Arg487Gln, XP_011535478.1:p.Arg414Gln, XP_011535472.1:p.Arg487Gln, XP_011535477.1:p.Arg439Gln, XP_011535479.1:p.Arg347Gln, XP_011535480.1:p.Arg347Gln, XP_011535481.1:p.Arg283Gln, XP_016877149.1:p.Arg311Gln, XP_016877150.1:p.Arg311Gln, XP_016877151.1:p.Arg247Gln, XP_016877152.1:p.Arg238Gln, XP_047287734.1:p.Arg451Gln, XP_047287735.1:p.Arg403Gln, XP_047287737.1:p.Arg283Gln, XP_047287736.1:p.Arg311Gln, XP_047287738.1:p.Arg247Gln, XP_047287739.1:p.Arg238Gln

                                16.

                                rs1467875792 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:74046118 (GRCh38)
                                  14:74512821 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:74046117:A:G
                                  Gene:
                                  BBOF1 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.74046118A>G, NC_000014.8:g.74512821A>G, NG_033060.1:g.31763A>G, NM_025057.3:c.635A>G, NM_025057.2:c.635A>G, XM_005268092.4:c.635A>G, XM_005268092.3:c.635A>G, XM_005268092.2:c.635A>G, XM_005268092.1:c.635A>G, XM_011537171.3:c.635A>G, XM_011537171.2:c.635A>G, XM_011537171.1:c.635A>G, XM_011537174.3:c.635A>G, XM_011537174.2:c.635A>G, XM_011537174.1:c.635A>G, XM_011537176.3:c.416A>G, XM_011537176.2:c.416A>G, XM_011537176.1:c.416A>G, XM_011537170.3:c.635A>G, XM_011537170.2:c.635A>G, XM_011537170.1:c.635A>G, XM_011537175.3:c.491A>G, XM_011537175.2:c.491A>G, XM_011537175.1:c.491A>G, XM_011537177.3:c.215A>G, XM_011537177.2:c.215A>G, XM_011537177.1:c.215A>G, XM_011537178.3:c.215A>G, XM_011537178.2:c.215A>G, XM_011537178.1:c.215A>G, XM_011537179.3:c.23A>G, XM_011537179.2:c.23A>G, XM_011537179.1:c.23A>G, XM_017021660.2:c.215A>G, XM_017021660.1:c.215A>G, XM_017021661.2:c.215A>G, XM_017021661.1:c.215A>G, XM_017021662.2:c.23A>G, XM_017021662.1:c.23A>G, XM_017021663.2:c.635A>G, XM_017021663.1:c.635A>G, XM_047431778.1:c.635A>G, XM_047431779.1:c.491A>G, XM_047431781.1:c.23A>G, XR_007064048.1:n.765A>G, XM_047431780.1:c.215A>G, XR_007064049.1:n.765A>G, XM_047431782.1:c.23A>G, XM_047431783.1:c.635A>G, XM_047431785.1:c.635A>G, NP_079333.2:p.His212Arg, XP_005268149.1:p.His212Arg, XP_011535473.1:p.His212Arg, XP_011535476.1:p.His212Arg, XP_011535478.1:p.His139Arg, XP_011535472.1:p.His212Arg, XP_011535477.1:p.His164Arg, XP_011535479.1:p.His72Arg, XP_011535480.1:p.His72Arg, XP_011535481.1:p.His8Arg, XP_016877149.1:p.His72Arg, XP_016877150.1:p.His72Arg, XP_016877151.1:p.His8Arg, XP_016877152.1:p.His212Arg, XP_047287734.1:p.His212Arg, XP_047287735.1:p.His164Arg, XP_047287737.1:p.His8Arg, XP_047287736.1:p.His72Arg, XP_047287738.1:p.His8Arg, XP_047287739.1:p.His212Arg, XP_047287741.1:p.His212Arg

                                  17.

                                  rs1465306418 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:74040598 (GRCh38)
                                    14:74507301 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:74040597:C:T
                                    Gene:
                                    BBOF1 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000014.9:g.74040598C>T, NC_000014.8:g.74507301C>T, NG_033060.1:g.26243C>T, NM_025057.3:c.529C>T, NM_025057.2:c.529C>T, XM_005268092.4:c.529C>T, XM_005268092.3:c.529C>T, XM_005268092.2:c.529C>T, XM_005268092.1:c.529C>T, XM_011537171.3:c.529C>T, XM_011537171.2:c.529C>T, XM_011537171.1:c.529C>T, XM_011537174.3:c.529C>T, XM_011537174.2:c.529C>T, XM_011537174.1:c.529C>T, XM_011537176.3:c.310C>T, XM_011537176.2:c.310C>T, XM_011537176.1:c.310C>T, XM_011537170.3:c.529C>T, XM_011537170.2:c.529C>T, XM_011537170.1:c.529C>T, XM_011537175.3:c.385C>T, XM_011537175.2:c.385C>T, XM_011537175.1:c.385C>T, XM_011537177.3:c.109C>T, XM_011537177.2:c.109C>T, XM_011537177.1:c.109C>T, XM_011537178.3:c.109C>T, XM_011537178.2:c.109C>T, XM_011537178.1:c.109C>T, XM_011537179.3:c.-84C>T, XM_011537179.2:c.-84C>T, XM_011537179.1:c.-84C>T, XM_017021660.2:c.109C>T, XM_017021660.1:c.109C>T, XM_017021661.2:c.109C>T, XM_017021661.1:c.109C>T, XM_017021662.2:c.-84C>T, XM_017021662.1:c.-84C>T, XM_017021663.2:c.529C>T, XM_017021663.1:c.529C>T, XM_047431778.1:c.529C>T, XM_047431779.1:c.385C>T, XM_047431781.1:c.-84C>T, XR_007064048.1:n.659C>T, XM_047431780.1:c.109C>T, XR_007064049.1:n.659C>T, XM_047431782.1:c.-84C>T, XM_047431783.1:c.529C>T, XM_047431784.1:c.529C>T, XM_047431785.1:c.529C>T, NP_079333.2:p.His177Tyr, XP_005268149.1:p.His177Tyr, XP_011535473.1:p.His177Tyr, XP_011535476.1:p.His177Tyr, XP_011535478.1:p.His104Tyr, XP_011535472.1:p.His177Tyr, XP_011535477.1:p.His129Tyr, XP_011535479.1:p.His37Tyr, XP_011535480.1:p.His37Tyr, XP_016877149.1:p.His37Tyr, XP_016877150.1:p.His37Tyr, XP_016877152.1:p.His177Tyr, XP_047287734.1:p.His177Tyr, XP_047287735.1:p.His129Tyr, XP_047287736.1:p.His37Tyr, XP_047287739.1:p.His177Tyr, XP_047287740.1:p.His177Tyr, XP_047287741.1:p.His177Tyr

                                    18.

                                    rs1465027957 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      14:74034092 (GRCh38)
                                      14:74500795 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:74034091:T:C
                                      Gene:
                                      BBOF1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000014.9:g.74034092T>C, NC_000014.8:g.74500795T>C, NG_033060.1:g.19737T>C, NM_025057.3:c.416T>C, NM_025057.2:c.416T>C, XM_005268092.4:c.416T>C, XM_005268092.3:c.416T>C, XM_005268092.2:c.416T>C, XM_005268092.1:c.416T>C, XM_011537171.3:c.416T>C, XM_011537171.2:c.416T>C, XM_011537171.1:c.416T>C, XM_011537174.3:c.416T>C, XM_011537174.2:c.416T>C, XM_011537174.1:c.416T>C, XM_011537176.3:c.197T>C, XM_011537176.2:c.197T>C, XM_011537176.1:c.197T>C, XM_011537170.3:c.416T>C, XM_011537170.2:c.416T>C, XM_011537170.1:c.416T>C, XM_011537177.3:c.-5T>C, XM_011537177.2:c.-5T>C, XM_011537177.1:c.-5T>C, XM_011537178.3:c.-5T>C, XM_011537178.2:c.-5T>C, XM_011537178.1:c.-5T>C, XM_017021660.2:c.-5T>C, XM_017021660.1:c.-5T>C, XM_017021661.2:c.-5T>C, XM_017021661.1:c.-5T>C, XM_017021663.2:c.416T>C, XM_017021663.1:c.416T>C, XM_047431778.1:c.416T>C, XR_007064048.1:n.546T>C, XM_047431780.1:c.-5T>C, XR_007064049.1:n.546T>C, XM_047431783.1:c.416T>C, XM_047431784.1:c.416T>C, XM_047431785.1:c.416T>C, NP_079333.2:p.Ile139Thr, XP_005268149.1:p.Ile139Thr, XP_011535473.1:p.Ile139Thr, XP_011535476.1:p.Ile139Thr, XP_011535478.1:p.Ile66Thr, XP_011535472.1:p.Ile139Thr, XP_016877152.1:p.Ile139Thr, XP_047287734.1:p.Ile139Thr, XP_047287739.1:p.Ile139Thr, XP_047287740.1:p.Ile139Thr, XP_047287741.1:p.Ile139Thr

                                      19.

                                      rs1463159448 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:74057310 (GRCh38)
                                        14:74524013 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:74057309:A:G
                                        Gene:
                                        ALDH6A1 (Varview), BBOF1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.74057310A>G, NC_000014.8:g.74524013A>G, NG_012257.2:g.32184T>C, NM_005589.4:c.*3332T>C, NM_001278594.2:c.*3332T>C, NM_001278593.2:c.*3332T>C, NG_033060.1:g.42955A>G, XM_005268092.4:c.1630A>G, XM_005268092.3:c.1630A>G, XM_005268092.2:c.1630A>G, XM_005268092.1:c.1630A>G, XM_011537176.3:c.1519A>G, XM_011537176.2:c.1519A>G, XM_011537176.1:c.1519A>G, XM_011537170.3:c.1738A>G, XM_011537170.2:c.1738A>G, XM_011537170.1:c.1738A>G, XM_011537175.3:c.1594A>G, XM_011537175.2:c.1594A>G, XM_011537175.1:c.1594A>G, XM_011537177.3:c.1318A>G, XM_011537177.2:c.1318A>G, XM_011537177.1:c.1318A>G, XM_011537178.3:c.1318A>G, XM_011537178.2:c.1318A>G, XM_011537178.1:c.1318A>G, XM_011537179.3:c.1126A>G, XM_011537179.2:c.1126A>G, XM_011537179.1:c.1126A>G, XM_047431780.1:c.1210A>G, XM_047431782.1:c.1018A>G, XM_047431783.1:c.991A>G, XP_005268149.1:p.Met544Val, XP_011535478.1:p.Met507Val, XP_011535472.1:p.Met580Val, XP_011535477.1:p.Met532Val, XP_011535479.1:p.Met440Val, XP_011535480.1:p.Met440Val, XP_011535481.1:p.Met376Val, XP_047287736.1:p.Met404Val, XP_047287738.1:p.Met340Val, XP_047287739.1:p.Met331Val

                                        20.

                                        rs1462368686 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TCCAAGTGGAGAGA>- [Show Flanks]
                                          Chromosome:
                                          14:74034146 (GRCh38)
                                          14:74500849 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:74034144:ATCCAAGTGGAGAGA:A
                                          Gene:
                                          BBOF1 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000014.9:g.74034146_74034159del, NC_000014.8:g.74500849_74500862del, NG_033060.1:g.19791_19804del, NM_025057.3:c.470_483del, NM_025057.2:c.470_483del, XM_005268092.4:c.470_483del, XM_005268092.3:c.470_483del, XM_005268092.2:c.470_483del, XM_005268092.1:c.470_483del, XM_011537171.3:c.470_483del, XM_011537171.2:c.470_483del, XM_011537171.1:c.470_483del, XM_011537174.3:c.470_483del, XM_011537174.2:c.470_483del, XM_011537174.1:c.470_483del, XM_011537176.3:c.251_264del, XM_011537176.2:c.251_264del, XM_011537176.1:c.251_264del, XM_011537170.3:c.470_483del, XM_011537170.2:c.470_483del, XM_011537170.1:c.470_483del, XM_011537177.3:c.50_63del, XM_011537177.2:c.50_63del, XM_011537177.1:c.50_63del, XM_011537178.3:c.50_63del, XM_011537178.2:c.50_63del, XM_011537178.1:c.50_63del, XM_017021660.2:c.50_63del, XM_017021660.1:c.50_63del, XM_017021661.2:c.50_63del, XM_017021661.1:c.50_63del, XM_017021663.2:c.470_483del, XM_017021663.1:c.470_483del, XM_047431778.1:c.470_483del, XR_007064048.1:n.600_613del, XM_047431780.1:c.50_63del, XR_007064049.1:n.600_613del, XM_047431783.1:c.470_483del, XM_047431784.1:c.470_483del, XM_047431785.1:c.470_483del, NP_079333.2:p.Ile157fs, XP_005268149.1:p.Ile157fs, XP_011535473.1:p.Ile157fs, XP_011535476.1:p.Ile157fs, XP_011535478.1:p.Ile84fs, XP_011535472.1:p.Ile157fs, XP_011535479.1:p.Ile17fs, XP_011535480.1:p.Ile17fs, XP_016877149.1:p.Ile17fs, XP_016877150.1:p.Ile17fs, XP_016877152.1:p.Ile157fs, XP_047287734.1:p.Ile157fs, XP_047287736.1:p.Ile17fs, XP_047287739.1:p.Ile157fs, XP_047287740.1:p.Ile157fs, XP_047287741.1:p.Ile157fs

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