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Items: 1 to 20 of 320

1.

rs1489425317 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CAT>- [Show Flanks]
    Chromosome:
    12:50135964 (GRCh38)
    12:50529747 (GRCh37)
    Canonical SPDI:
    NC_000012.12:50135960:CATCAT:CAT
    Gene:
    CERS5 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CATCAT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.50135961CAT[1], NC_000012.11:g.50529744CAT[1], NM_147190.5:c.740ATG[1], NM_147190.4:c.740ATG[1], NM_147190.3:c.740ATG[1], NM_147190.2:c.740ATG[1], NR_138535.3:n.974ATG[1], NR_138535.2:n.974ATG[1], NR_138535.1:n.1138ATG[1], NR_138536.3:n.916ATG[1], NR_138536.2:n.916ATG[1], NR_138536.1:n.1080ATG[1], NR_138533.3:n.812ATG[1], NR_138533.2:n.812ATG[1], NR_138533.1:n.976ATG[1], NR_104035.3:n.754ATG[1], NR_104035.2:n.754ATG[1], NR_104035.1:n.918ATG[1], NM_001331069.3:c.566ATG[1], NM_001331069.2:c.566ATG[1], NM_001331069.1:c.566ATG[1], NM_001331073.3:c.308ATG[1], NM_001331073.2:c.308ATG[1], NM_001331073.1:c.308ATG[1], NR_138534.3:n.812ATG[1], NR_138534.2:n.812ATG[1], NR_138534.1:n.976ATG[1], NM_001331072.3:c.308ATG[1], NM_001331072.2:c.308ATG[1], NM_001331072.1:c.308ATG[1], XM_005269220.3:c.740ATG[1], XM_005269220.2:c.740ATG[1], XM_005269220.1:c.740ATG[1], NM_001331070.3:c.740ATG[1], NM_001331070.2:c.740ATG[1], NM_001331070.1:c.740ATG[1], NM_001331071.3:c.740ATG[1], NM_001331071.2:c.740ATG[1], NM_001331071.1:c.740ATG[1], NR_138532.3:n.754ATG[1], NR_138532.2:n.754ATG[1], NR_138532.1:n.918ATG[1], XM_017020204.3:c.740ATG[1], XM_017020204.2:c.740ATG[1], XM_017020204.1:c.740ATG[1], NM_001281731.2:c.566ATG[1], NM_001281731.1:c.566ATG[1], XM_047429865.1:c.566ATG[1], XM_047429866.1:c.566ATG[1], XM_047429867.1:c.164ATG[1], NP_671723.1:p.Asp248del, NP_001317998.1:p.Asp190del, NP_001318002.1:p.Asp104del, NP_001318001.1:p.Asp104del, XP_005269277.1:p.Asp248del, NP_001317999.1:p.Asp248del, NP_001318000.1:p.Asp248del, XP_016875693.1:p.Asp248del, NP_001268660.1:p.Asp190del, XP_047285821.1:p.Asp190del, XP_047285822.1:p.Asp190del, XP_047285823.1:p.Asp56del

    2.

    rs1484484380 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:50143178 (GRCh38)
      12:50536961 (GRCh37)
      Canonical SPDI:
      NC_000012.12:50143177:G:A
      Gene:
      CERS5 (Varview), LOC124902931 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.0001/1 (ALFA)
      HGVS:
      NC_000012.12:g.50143178G>A, NC_000012.11:g.50536961G>A, NM_147190.5:c.330C>T, NM_147190.4:c.330C>T, NM_147190.3:c.330C>T, NM_147190.2:c.330C>T, NR_138535.3:n.564C>T, NR_138535.2:n.564C>T, NR_138535.1:n.728C>T, NR_138536.3:n.564C>T, NR_138536.2:n.564C>T, NR_138536.1:n.728C>T, NR_138533.3:n.402C>T, NR_138533.2:n.402C>T, NR_138533.1:n.566C>T, NR_104035.3:n.402C>T, NR_104035.2:n.402C>T, NR_104035.1:n.566C>T, NM_001331069.3:c.156C>T, NM_001331069.2:c.156C>T, NM_001331069.1:c.156C>T, NM_001331073.3:c.-103C>T, NM_001331073.2:c.-103C>T, NM_001331073.1:c.-103C>T, NR_138534.3:n.402C>T, NR_138534.2:n.402C>T, NR_138534.1:n.566C>T, NM_001331072.3:c.-103C>T, NM_001331072.2:c.-103C>T, NM_001331072.1:c.-103C>T, XM_005269220.3:c.330C>T, XM_005269220.2:c.330C>T, XM_005269220.1:c.330C>T, NM_001331070.3:c.330C>T, NM_001331070.2:c.330C>T, NM_001331070.1:c.330C>T, NM_001331071.3:c.330C>T, NM_001331071.2:c.330C>T, NM_001331071.1:c.330C>T, NR_138532.3:n.402C>T, NR_138532.2:n.402C>T, NR_138532.1:n.566C>T, XM_017020204.3:c.330C>T, XM_017020204.2:c.330C>T, XM_017020204.1:c.330C>T, NM_001281731.2:c.156C>T, NM_001281731.1:c.156C>T, XM_047429865.1:c.156C>T, XM_047429866.1:c.156C>T

      3.

      rs1479597924 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:50130606 (GRCh38)
        12:50524389 (GRCh37)
        Canonical SPDI:
        NC_000012.12:50130605:G:A
        Gene:
        CERS5 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000012.12:g.50130606G>A, NC_000012.11:g.50524389G>A, NM_147190.5:c.1118C>T, NM_147190.4:c.1118C>T, NM_147190.3:c.1118C>T, NM_147190.2:c.1118C>T, NR_138535.3:n.2459C>T, NR_138535.2:n.2459C>T, NR_138535.1:n.2623C>T, NR_138536.3:n.2401C>T, NR_138536.2:n.2401C>T, NR_138536.1:n.2565C>T, NR_138533.3:n.2297C>T, NR_138533.2:n.2297C>T, NR_138533.1:n.2461C>T, NR_104035.3:n.2239C>T, NR_104035.2:n.2239C>T, NR_104035.1:n.2403C>T, NM_001331069.3:c.*75C>T, NM_001331069.2:c.*75C>T, NM_001331069.1:c.*75C>T, NM_001331073.3:c.*75C>T, NM_001331073.2:c.*75C>T, NM_001331073.1:c.*75C>T, NR_138534.3:n.1439C>T, NR_138534.2:n.1439C>T, NR_138534.1:n.1603C>T, NM_001331072.3:c.686C>T, NM_001331072.2:c.686C>T, NM_001331072.1:c.686C>T, XM_005269220.3:c.*34C>T, XM_005269220.2:c.*34C>T, XM_005269220.1:c.*34C>T, NM_001331070.3:c.*75C>T, NM_001331070.2:c.*75C>T, NM_001331070.1:c.*75C>T, NM_001331071.3:c.*75C>T, NM_001331071.2:c.*75C>T, NM_001331071.1:c.*75C>T, NR_138532.3:n.1235C>T, NR_138532.2:n.1235C>T, NR_138532.1:n.1399C>T, NM_001281731.2:c.944C>T, NM_001281731.1:c.944C>T, XM_047429865.1:c.*34C>T, XM_047429866.1:c.*75C>T, XM_047429867.1:c.*34C>T, NP_671723.1:p.Ser373Phe, NP_001318001.1:p.Ser229Phe, NP_001268660.1:p.Ser315Phe

        4.

        rs1478004986 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          12:50142091 (GRCh38)
          12:50535874 (GRCh37)
          Canonical SPDI:
          NC_000012.12:50142090:A:G
          Gene:
          CERS5 (Varview), LOC124902931 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.50142091A>G, NC_000012.11:g.50535874A>G, NM_147190.5:c.454T>C, NM_147190.4:c.454T>C, NM_147190.3:c.454T>C, NM_147190.2:c.454T>C, NR_138535.3:n.688T>C, NR_138535.2:n.688T>C, NR_138535.1:n.852T>C, NR_138533.3:n.526T>C, NR_138533.2:n.526T>C, NR_138533.1:n.690T>C, NM_001331069.3:c.280T>C, NM_001331069.2:c.280T>C, NM_001331069.1:c.280T>C, NM_001331073.3:c.22T>C, NM_001331073.2:c.22T>C, NM_001331073.1:c.22T>C, NR_138534.3:n.526T>C, NR_138534.2:n.526T>C, NR_138534.1:n.690T>C, NM_001331072.3:c.22T>C, NM_001331072.2:c.22T>C, NM_001331072.1:c.22T>C, XM_005269220.3:c.454T>C, XM_005269220.2:c.454T>C, XM_005269220.1:c.454T>C, NM_001331070.3:c.454T>C, NM_001331070.2:c.454T>C, NM_001331070.1:c.454T>C, NM_001331071.3:c.454T>C, NM_001331071.2:c.454T>C, NM_001331071.1:c.454T>C, XM_017020204.3:c.454T>C, XM_017020204.2:c.454T>C, XM_017020204.1:c.454T>C, NM_001281731.2:c.280T>C, NM_001281731.1:c.280T>C, XM_047429865.1:c.280T>C, XM_047429866.1:c.280T>C

          5.

          rs1473551869 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            12:50137739 (GRCh38)
            12:50531522 (GRCh37)
            Canonical SPDI:
            NC_000012.12:50137738:T:C,NC_000012.12:50137738:T:G
            Gene:
            CERS5 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.50137739T>C, NC_000012.12:g.50137739T>G, NC_000012.11:g.50531522T>C, NC_000012.11:g.50531522T>G, NM_147190.5:c.625A>G, NM_147190.5:c.625A>C, NM_147190.4:c.625A>G, NM_147190.4:c.625A>C, NM_147190.3:c.625A>G, NM_147190.3:c.625A>C, NM_147190.2:c.625A>G, NM_147190.2:c.625A>C, NR_138535.3:n.859A>G, NR_138535.3:n.859A>C, NR_138535.2:n.859A>G, NR_138535.2:n.859A>C, NR_138535.1:n.1023A>G, NR_138535.1:n.1023A>C, NR_138536.3:n.801A>G, NR_138536.3:n.801A>C, NR_138536.2:n.801A>G, NR_138536.2:n.801A>C, NR_138536.1:n.965A>G, NR_138536.1:n.965A>C, NR_138533.3:n.697A>G, NR_138533.3:n.697A>C, NR_138533.2:n.697A>G, NR_138533.2:n.697A>C, NR_138533.1:n.861A>G, NR_138533.1:n.861A>C, NR_104035.3:n.639A>G, NR_104035.3:n.639A>C, NR_104035.2:n.639A>G, NR_104035.2:n.639A>C, NR_104035.1:n.803A>G, NR_104035.1:n.803A>C, NM_001331069.3:c.451A>G, NM_001331069.3:c.451A>C, NM_001331069.2:c.451A>G, NM_001331069.2:c.451A>C, NM_001331069.1:c.451A>G, NM_001331069.1:c.451A>C, NM_001331073.3:c.193A>G, NM_001331073.3:c.193A>C, NM_001331073.2:c.193A>G, NM_001331073.2:c.193A>C, NM_001331073.1:c.193A>G, NM_001331073.1:c.193A>C, NR_138534.3:n.697A>G, NR_138534.3:n.697A>C, NR_138534.2:n.697A>G, NR_138534.2:n.697A>C, NR_138534.1:n.861A>G, NR_138534.1:n.861A>C, NM_001331072.3:c.193A>G, NM_001331072.3:c.193A>C, NM_001331072.2:c.193A>G, NM_001331072.2:c.193A>C, NM_001331072.1:c.193A>G, NM_001331072.1:c.193A>C, XM_005269220.3:c.625A>G, XM_005269220.3:c.625A>C, XM_005269220.2:c.625A>G, XM_005269220.2:c.625A>C, XM_005269220.1:c.625A>G, XM_005269220.1:c.625A>C, NM_001331070.3:c.625A>G, NM_001331070.3:c.625A>C, NM_001331070.2:c.625A>G, NM_001331070.2:c.625A>C, NM_001331070.1:c.625A>G, NM_001331070.1:c.625A>C, NM_001331071.3:c.625A>G, NM_001331071.3:c.625A>C, NM_001331071.2:c.625A>G, NM_001331071.2:c.625A>C, NM_001331071.1:c.625A>G, NM_001331071.1:c.625A>C, NR_138532.3:n.639A>G, NR_138532.3:n.639A>C, NR_138532.2:n.639A>G, NR_138532.2:n.639A>C, NR_138532.1:n.803A>G, NR_138532.1:n.803A>C, XM_017020204.3:c.625A>G, XM_017020204.3:c.625A>C, XM_017020204.2:c.625A>G, XM_017020204.2:c.625A>C, XM_017020204.1:c.625A>G, XM_017020204.1:c.625A>C, NM_001281731.2:c.451A>G, NM_001281731.2:c.451A>C, NM_001281731.1:c.451A>G, NM_001281731.1:c.451A>C, XM_047429865.1:c.451A>G, XM_047429865.1:c.451A>C, XM_047429866.1:c.451A>G, XM_047429866.1:c.451A>C, XM_047429867.1:c.49A>G, XM_047429867.1:c.49A>C, NP_671723.1:p.Ile209Val, NP_671723.1:p.Ile209Leu, NP_001317998.1:p.Ile151Val, NP_001317998.1:p.Ile151Leu, NP_001318002.1:p.Ile65Val, NP_001318002.1:p.Ile65Leu, NP_001318001.1:p.Ile65Val, NP_001318001.1:p.Ile65Leu, XP_005269277.1:p.Ile209Val, XP_005269277.1:p.Ile209Leu, NP_001317999.1:p.Ile209Val, NP_001317999.1:p.Ile209Leu, NP_001318000.1:p.Ile209Val, NP_001318000.1:p.Ile209Leu, XP_016875693.1:p.Ile209Val, XP_016875693.1:p.Ile209Leu, NP_001268660.1:p.Ile151Val, NP_001268660.1:p.Ile151Leu, XP_047285821.1:p.Ile151Val, XP_047285821.1:p.Ile151Leu, XP_047285822.1:p.Ile151Val, XP_047285822.1:p.Ile151Leu, XP_047285823.1:p.Ile17Val, XP_047285823.1:p.Ile17Leu

            6.

            rs1473223446 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:50135796 (GRCh38)
              12:50529579 (GRCh37)
              Canonical SPDI:
              NC_000012.12:50135795:C:T
              Gene:
              CERS5 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.50135796C>T, NC_000012.11:g.50529579C>T, NM_147190.5:c.808G>A, NM_147190.4:c.808G>A, NM_147190.3:c.808G>A, NM_147190.2:c.808G>A, NR_138535.3:n.1042G>A, NR_138535.2:n.1042G>A, NR_138535.1:n.1206G>A, NR_138536.3:n.984G>A, NR_138536.2:n.984G>A, NR_138536.1:n.1148G>A, NR_138533.3:n.880G>A, NR_138533.2:n.880G>A, NR_138533.1:n.1044G>A, NR_104035.3:n.822G>A, NR_104035.2:n.822G>A, NR_104035.1:n.986G>A, NM_001331069.3:c.634G>A, NM_001331069.2:c.634G>A, NM_001331069.1:c.634G>A, NM_001331073.3:c.376G>A, NM_001331073.2:c.376G>A, NM_001331073.1:c.376G>A, NR_138534.3:n.880G>A, NR_138534.2:n.880G>A, NR_138534.1:n.1044G>A, NM_001331072.3:c.376G>A, NM_001331072.2:c.376G>A, NM_001331072.1:c.376G>A, XM_005269220.3:c.808G>A, XM_005269220.2:c.808G>A, XM_005269220.1:c.808G>A, NM_001331070.3:c.808G>A, NM_001331070.2:c.808G>A, NM_001331070.1:c.808G>A, NM_001331071.3:c.808G>A, NM_001331071.2:c.808G>A, NM_001331071.1:c.808G>A, NR_138532.3:n.822G>A, NR_138532.2:n.822G>A, NR_138532.1:n.986G>A, XM_017020204.3:c.808G>A, XM_017020204.2:c.808G>A, XM_017020204.1:c.808G>A, NM_001281731.2:c.634G>A, NM_001281731.1:c.634G>A, XM_047429865.1:c.634G>A, XM_047429866.1:c.634G>A, XM_047429867.1:c.232G>A, NP_671723.1:p.Asp270Asn, NP_001317998.1:p.Asp212Asn, NP_001318002.1:p.Asp126Asn, NP_001318001.1:p.Asp126Asn, XP_005269277.1:p.Asp270Asn, NP_001317999.1:p.Asp270Asn, NP_001318000.1:p.Asp270Asn, XP_016875693.1:p.Asp270Asn, NP_001268660.1:p.Asp212Asn, XP_047285821.1:p.Asp212Asn, XP_047285822.1:p.Asp212Asn, XP_047285823.1:p.Asp78Asn

              7.

              rs1472266129 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:50135775 (GRCh38)
                12:50529558 (GRCh37)
                Canonical SPDI:
                NC_000012.12:50135774:T:C
                Gene:
                CERS5 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_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_000012.12:g.50135775T>C, NC_000012.11:g.50529558T>C, NM_147190.5:c.829A>G, NM_147190.4:c.829A>G, NM_147190.3:c.829A>G, NM_147190.2:c.829A>G, NR_138535.3:n.1063A>G, NR_138535.2:n.1063A>G, NR_138535.1:n.1227A>G, NR_138536.3:n.1005A>G, NR_138536.2:n.1005A>G, NR_138536.1:n.1169A>G, NR_138533.3:n.901A>G, NR_138533.2:n.901A>G, NR_138533.1:n.1065A>G, NR_104035.3:n.843A>G, NR_104035.2:n.843A>G, NR_104035.1:n.1007A>G, NM_001331069.3:c.655A>G, NM_001331069.2:c.655A>G, NM_001331069.1:c.655A>G, NM_001331073.3:c.397A>G, NM_001331073.2:c.397A>G, NM_001331073.1:c.397A>G, NR_138534.3:n.901A>G, NR_138534.2:n.901A>G, NR_138534.1:n.1065A>G, NM_001331072.3:c.397A>G, NM_001331072.2:c.397A>G, NM_001331072.1:c.397A>G, XM_005269220.3:c.829A>G, XM_005269220.2:c.829A>G, XM_005269220.1:c.829A>G, NM_001331070.3:c.829A>G, NM_001331070.2:c.829A>G, NM_001331070.1:c.829A>G, NM_001331071.3:c.829A>G, NM_001331071.2:c.829A>G, NM_001331071.1:c.829A>G, NR_138532.3:n.843A>G, NR_138532.2:n.843A>G, NR_138532.1:n.1007A>G, XM_017020204.3:c.829A>G, XM_017020204.2:c.829A>G, XM_017020204.1:c.829A>G, NM_001281731.2:c.655A>G, NM_001281731.1:c.655A>G, XM_047429865.1:c.655A>G, XM_047429866.1:c.655A>G, XM_047429867.1:c.253A>G, NP_671723.1:p.Ser277Gly, NP_001317998.1:p.Ser219Gly, NP_001318002.1:p.Ser133Gly, NP_001318001.1:p.Ser133Gly, XP_005269277.1:p.Ser277Gly, NP_001317999.1:p.Ser277Gly, NP_001318000.1:p.Ser277Gly, XP_016875693.1:p.Ser277Gly, NP_001268660.1:p.Ser219Gly, XP_047285821.1:p.Ser219Gly, XP_047285822.1:p.Ser219Gly, XP_047285823.1:p.Ser85Gly

                8.

                rs1468318263 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:50167122 (GRCh38)
                  12:50560905 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:50167121:A:G
                  Gene:
                  CERS5 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                  HGVS:
                  NC_000012.12:g.50167122A>G, NC_000012.11:g.50560905A>G, NM_147190.5:c.176T>C, NM_147190.4:c.176T>C, NM_147190.3:c.176T>C, NM_147190.2:c.176T>C, NR_138535.3:n.248T>C, NR_138535.2:n.248T>C, NR_138535.1:n.412T>C, NR_138536.3:n.248T>C, NR_138536.2:n.248T>C, NR_138536.1:n.412T>C, NR_138533.3:n.248T>C, NR_138533.2:n.248T>C, NR_138533.1:n.412T>C, NR_104035.3:n.248T>C, NR_104035.2:n.248T>C, NR_104035.1:n.412T>C, NM_001331069.3:c.-200T>C, NM_001331069.2:c.-200T>C, NM_001331069.1:c.-200T>C, NM_001331073.3:c.-419T>C, NM_001331073.2:c.-419T>C, NM_001331073.1:c.-419T>C, NR_138534.3:n.248T>C, NR_138534.2:n.248T>C, NR_138534.1:n.412T>C, NM_001331072.3:c.-419T>C, NM_001331072.2:c.-419T>C, NM_001331072.1:c.-419T>C, XM_005269220.3:c.176T>C, XM_005269220.2:c.176T>C, XM_005269220.1:c.176T>C, NM_001331070.3:c.176T>C, NM_001331070.2:c.176T>C, NM_001331070.1:c.176T>C, NM_001331071.3:c.176T>C, NM_001331071.2:c.176T>C, NM_001331071.1:c.176T>C, NR_138532.3:n.248T>C, NR_138532.2:n.248T>C, NR_138532.1:n.412T>C, XM_017020204.3:c.176T>C, XM_017020204.2:c.176T>C, XM_017020204.1:c.176T>C, NM_001281731.2:c.-200T>C, NM_001281731.1:c.-200T>C, NP_671723.1:p.Phe59Ser, XP_005269277.1:p.Phe59Ser, NP_001317999.1:p.Phe59Ser, NP_001318000.1:p.Phe59Ser, XP_016875693.1:p.Phe59Ser

                  9.

                  rs1464783014 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:50134637 (GRCh38)
                    12:50528420 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:50134636:A:G
                    Gene:
                    CERS5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.50134637A>G, NC_000012.11:g.50528420A>G, NM_147190.5:c.938T>C, NM_147190.4:c.938T>C, NM_147190.3:c.938T>C, NM_147190.2:c.938T>C, NR_138535.3:n.1172T>C, NR_138535.2:n.1172T>C, NR_138535.1:n.1336T>C, NR_138536.3:n.1114T>C, NR_138536.2:n.1114T>C, NR_138536.1:n.1278T>C, NR_138533.3:n.1010T>C, NR_138533.2:n.1010T>C, NR_138533.1:n.1174T>C, NR_104035.3:n.952T>C, NR_104035.2:n.952T>C, NR_104035.1:n.1116T>C, NM_001331069.3:c.764T>C, NM_001331069.2:c.764T>C, NM_001331069.1:c.764T>C, NM_001331073.3:c.506T>C, NM_001331073.2:c.506T>C, NM_001331073.1:c.506T>C, NR_138534.3:n.1010T>C, NR_138534.2:n.1010T>C, NR_138534.1:n.1174T>C, NM_001331072.3:c.506T>C, NM_001331072.2:c.506T>C, NM_001331072.1:c.506T>C, XM_005269220.3:c.938T>C, XM_005269220.2:c.938T>C, XM_005269220.1:c.938T>C, NM_001331070.3:c.938T>C, NM_001331070.2:c.938T>C, NM_001331070.1:c.938T>C, NM_001331071.3:c.938T>C, NM_001331071.2:c.938T>C, NM_001331071.1:c.938T>C, NR_138532.3:n.952T>C, NR_138532.2:n.952T>C, NR_138532.1:n.1116T>C, NM_001281731.2:c.764T>C, NM_001281731.1:c.764T>C, XM_047429865.1:c.764T>C, XM_047429866.1:c.764T>C, XM_047429867.1:c.362T>C, NP_671723.1:p.Leu313Pro, NP_001317998.1:p.Leu255Pro, NP_001318002.1:p.Leu169Pro, NP_001318001.1:p.Leu169Pro, XP_005269277.1:p.Leu313Pro, NP_001317999.1:p.Leu313Pro, NP_001318000.1:p.Leu313Pro, NP_001268660.1:p.Leu255Pro, XP_047285821.1:p.Leu255Pro, XP_047285822.1:p.Leu255Pro, XP_047285823.1:p.Leu121Pro

                    10.

                    rs1463335428 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:50135805 (GRCh38)
                      12:50529588 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:50135804:G:A
                      Gene:
                      CERS5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000028/1 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000012.12:g.50135805G>A, NC_000012.11:g.50529588G>A, NM_147190.5:c.799C>T, NM_147190.4:c.799C>T, NM_147190.3:c.799C>T, NM_147190.2:c.799C>T, NR_138535.3:n.1033C>T, NR_138535.2:n.1033C>T, NR_138535.1:n.1197C>T, NR_138536.3:n.975C>T, NR_138536.2:n.975C>T, NR_138536.1:n.1139C>T, NR_138533.3:n.871C>T, NR_138533.2:n.871C>T, NR_138533.1:n.1035C>T, NR_104035.3:n.813C>T, NR_104035.2:n.813C>T, NR_104035.1:n.977C>T, NM_001331069.3:c.625C>T, NM_001331069.2:c.625C>T, NM_001331069.1:c.625C>T, NM_001331073.3:c.367C>T, NM_001331073.2:c.367C>T, NM_001331073.1:c.367C>T, NR_138534.3:n.871C>T, NR_138534.2:n.871C>T, NR_138534.1:n.1035C>T, NM_001331072.3:c.367C>T, NM_001331072.2:c.367C>T, NM_001331072.1:c.367C>T, XM_005269220.3:c.799C>T, XM_005269220.2:c.799C>T, XM_005269220.1:c.799C>T, NM_001331070.3:c.799C>T, NM_001331070.2:c.799C>T, NM_001331070.1:c.799C>T, NM_001331071.3:c.799C>T, NM_001331071.2:c.799C>T, NM_001331071.1:c.799C>T, NR_138532.3:n.813C>T, NR_138532.2:n.813C>T, NR_138532.1:n.977C>T, XM_017020204.3:c.799C>T, XM_017020204.2:c.799C>T, XM_017020204.1:c.799C>T, NM_001281731.2:c.625C>T, NM_001281731.1:c.625C>T, XM_047429865.1:c.625C>T, XM_047429866.1:c.625C>T, XM_047429867.1:c.223C>T, NP_671723.1:p.Arg267Trp, NP_001317998.1:p.Arg209Trp, NP_001318002.1:p.Arg123Trp, NP_001318001.1:p.Arg123Trp, XP_005269277.1:p.Arg267Trp, NP_001317999.1:p.Arg267Trp, NP_001318000.1:p.Arg267Trp, XP_016875693.1:p.Arg267Trp, NP_001268660.1:p.Arg209Trp, XP_047285821.1:p.Arg209Trp, XP_047285822.1:p.Arg209Trp, XP_047285823.1:p.Arg75Trp

                      11.

                      rs1460562715 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:50167211 (GRCh38)
                        12:50560994 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:50167210:C:T
                        Gene:
                        CERS5 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,stop_gained,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.50167211C>T, NC_000012.11:g.50560994C>T, NM_147190.5:c.87G>A, NM_147190.4:c.87G>A, NM_147190.3:c.87G>A, NM_147190.2:c.87G>A, NR_138535.3:n.159G>A, NR_138535.2:n.159G>A, NR_138535.1:n.323G>A, NR_138536.3:n.159G>A, NR_138536.2:n.159G>A, NR_138536.1:n.323G>A, NR_138533.3:n.159G>A, NR_138533.2:n.159G>A, NR_138533.1:n.323G>A, NR_104035.3:n.159G>A, NR_104035.2:n.159G>A, NR_104035.1:n.323G>A, NM_001331069.3:c.-289G>A, NM_001331069.2:c.-289G>A, NM_001331069.1:c.-289G>A, NM_001331073.3:c.-508G>A, NM_001331073.2:c.-508G>A, NM_001331073.1:c.-508G>A, NR_138534.3:n.159G>A, NR_138534.2:n.159G>A, NR_138534.1:n.323G>A, NM_001331072.3:c.-508G>A, NM_001331072.2:c.-508G>A, NM_001331072.1:c.-508G>A, XM_005269220.3:c.87G>A, XM_005269220.2:c.87G>A, XM_005269220.1:c.87G>A, NM_001331070.3:c.87G>A, NM_001331070.2:c.87G>A, NM_001331070.1:c.87G>A, NM_001331071.3:c.87G>A, NM_001331071.2:c.87G>A, NM_001331071.1:c.87G>A, NR_138532.3:n.159G>A, NR_138532.2:n.159G>A, NR_138532.1:n.323G>A, XM_017020204.3:c.87G>A, XM_017020204.2:c.87G>A, XM_017020204.1:c.87G>A, NM_001281731.2:c.-289G>A, NM_001281731.1:c.-289G>A, NP_671723.1:p.Trp29Ter, XP_005269277.1:p.Trp29Ter, NP_001317999.1:p.Trp29Ter, NP_001318000.1:p.Trp29Ter, XP_016875693.1:p.Trp29Ter

                        12.

                        rs1457032757 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:50144015 (GRCh38)
                          12:50537798 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:50144014:G:A
                          Gene:
                          CERS5 (Varview), LOC124902931 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000012.12:g.50144015G>A, NC_000012.11:g.50537798G>A, NM_147190.5:c.240C>T, NM_147190.4:c.240C>T, NM_147190.3:c.240C>T, NM_147190.2:c.240C>T, NR_138535.3:n.474C>T, NR_138535.2:n.474C>T, NR_138535.1:n.638C>T, NR_138536.3:n.474C>T, NR_138536.2:n.474C>T, NR_138536.1:n.638C>T, NR_138533.3:n.312C>T, NR_138533.2:n.312C>T, NR_138533.1:n.476C>T, NR_104035.3:n.312C>T, NR_104035.2:n.312C>T, NR_104035.1:n.476C>T, NM_001331069.3:c.66C>T, NM_001331069.2:c.66C>T, NM_001331069.1:c.66C>T, NM_001331073.3:c.-193C>T, NM_001331073.2:c.-193C>T, NM_001331073.1:c.-193C>T, NR_138534.3:n.312C>T, NR_138534.2:n.312C>T, NR_138534.1:n.476C>T, NM_001331072.3:c.-193C>T, NM_001331072.2:c.-193C>T, NM_001331072.1:c.-193C>T, XM_005269220.3:c.240C>T, XM_005269220.2:c.240C>T, XM_005269220.1:c.240C>T, NM_001331070.3:c.240C>T, NM_001331070.2:c.240C>T, NM_001331070.1:c.240C>T, NM_001331071.3:c.240C>T, NM_001331071.2:c.240C>T, NM_001331071.1:c.240C>T, NR_138532.3:n.312C>T, NR_138532.2:n.312C>T, NR_138532.1:n.476C>T, XM_017020204.3:c.240C>T, XM_017020204.2:c.240C>T, XM_017020204.1:c.240C>T, NM_001281731.2:c.66C>T, NM_001281731.1:c.66C>T, XM_047429865.1:c.66C>T, XM_047429866.1:c.66C>T

                          13.

                          rs1455428434 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            12:50137746 (GRCh38)
                            12:50531529 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:50137745:A:T
                            Gene:
                            CERS5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_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 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.50137746A>T, NC_000012.11:g.50531529A>T, NM_147190.5:c.618T>A, NM_147190.4:c.618T>A, NM_147190.3:c.618T>A, NM_147190.2:c.618T>A, NR_138535.3:n.852T>A, NR_138535.2:n.852T>A, NR_138535.1:n.1016T>A, NR_138536.3:n.794T>A, NR_138536.2:n.794T>A, NR_138536.1:n.958T>A, NR_138533.3:n.690T>A, NR_138533.2:n.690T>A, NR_138533.1:n.854T>A, NR_104035.3:n.632T>A, NR_104035.2:n.632T>A, NR_104035.1:n.796T>A, NM_001331069.3:c.444T>A, NM_001331069.2:c.444T>A, NM_001331069.1:c.444T>A, NM_001331073.3:c.186T>A, NM_001331073.2:c.186T>A, NM_001331073.1:c.186T>A, NR_138534.3:n.690T>A, NR_138534.2:n.690T>A, NR_138534.1:n.854T>A, NM_001331072.3:c.186T>A, NM_001331072.2:c.186T>A, NM_001331072.1:c.186T>A, XM_005269220.3:c.618T>A, XM_005269220.2:c.618T>A, XM_005269220.1:c.618T>A, NM_001331070.3:c.618T>A, NM_001331070.2:c.618T>A, NM_001331070.1:c.618T>A, NM_001331071.3:c.618T>A, NM_001331071.2:c.618T>A, NM_001331071.1:c.618T>A, NR_138532.3:n.632T>A, NR_138532.2:n.632T>A, NR_138532.1:n.796T>A, XM_017020204.3:c.618T>A, XM_017020204.2:c.618T>A, XM_017020204.1:c.618T>A, NM_001281731.2:c.444T>A, NM_001281731.1:c.444T>A, XM_047429865.1:c.444T>A, XM_047429866.1:c.444T>A, XM_047429867.1:c.42T>A, NP_671723.1:p.Phe206Leu, NP_001317998.1:p.Phe148Leu, NP_001318002.1:p.Phe62Leu, NP_001318001.1:p.Phe62Leu, XP_005269277.1:p.Phe206Leu, NP_001317999.1:p.Phe206Leu, NP_001318000.1:p.Phe206Leu, XP_016875693.1:p.Phe206Leu, NP_001268660.1:p.Phe148Leu, XP_047285821.1:p.Phe148Leu, XP_047285822.1:p.Phe148Leu, XP_047285823.1:p.Phe14Leu

                            14.

                            rs1454888114 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:50134646 (GRCh38)
                              12:50528429 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:50134645:C:T
                              Gene:
                              CERS5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.50134646C>T, NC_000012.11:g.50528429C>T, NM_147190.5:c.929G>A, NM_147190.4:c.929G>A, NM_147190.3:c.929G>A, NM_147190.2:c.929G>A, NR_138535.3:n.1163G>A, NR_138535.2:n.1163G>A, NR_138535.1:n.1327G>A, NR_138536.3:n.1105G>A, NR_138536.2:n.1105G>A, NR_138536.1:n.1269G>A, NR_138533.3:n.1001G>A, NR_138533.2:n.1001G>A, NR_138533.1:n.1165G>A, NR_104035.3:n.943G>A, NR_104035.2:n.943G>A, NR_104035.1:n.1107G>A, NM_001331069.3:c.755G>A, NM_001331069.2:c.755G>A, NM_001331069.1:c.755G>A, NM_001331073.3:c.497G>A, NM_001331073.2:c.497G>A, NM_001331073.1:c.497G>A, NR_138534.3:n.1001G>A, NR_138534.2:n.1001G>A, NR_138534.1:n.1165G>A, NM_001331072.3:c.497G>A, NM_001331072.2:c.497G>A, NM_001331072.1:c.497G>A, XM_005269220.3:c.929G>A, XM_005269220.2:c.929G>A, XM_005269220.1:c.929G>A, NM_001331070.3:c.929G>A, NM_001331070.2:c.929G>A, NM_001331070.1:c.929G>A, NM_001331071.3:c.929G>A, NM_001331071.2:c.929G>A, NM_001331071.1:c.929G>A, NR_138532.3:n.943G>A, NR_138532.2:n.943G>A, NR_138532.1:n.1107G>A, NM_001281731.2:c.755G>A, NM_001281731.1:c.755G>A, XM_047429865.1:c.755G>A, XM_047429866.1:c.755G>A, XM_047429867.1:c.353G>A, NP_671723.1:p.Trp310Ter, NP_001317998.1:p.Trp252Ter, NP_001318002.1:p.Trp166Ter, NP_001318001.1:p.Trp166Ter, XP_005269277.1:p.Trp310Ter, NP_001317999.1:p.Trp310Ter, NP_001318000.1:p.Trp310Ter, NP_001268660.1:p.Trp252Ter, XP_047285821.1:p.Trp252Ter, XP_047285822.1:p.Trp252Ter, XP_047285823.1:p.Trp118Ter

                              15.

                              rs1452433940 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:50137810 (GRCh38)
                                12:50531593 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:50137809:C:T
                                Gene:
                                CERS5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                HGVS:
                                NC_000012.12:g.50137810C>T, NC_000012.11:g.50531593C>T, NM_147190.5:c.554G>A, NM_147190.4:c.554G>A, NM_147190.3:c.554G>A, NM_147190.2:c.554G>A, NR_138535.3:n.788G>A, NR_138535.2:n.788G>A, NR_138535.1:n.952G>A, NR_138536.3:n.730G>A, NR_138536.2:n.730G>A, NR_138536.1:n.894G>A, NR_138533.3:n.626G>A, NR_138533.2:n.626G>A, NR_138533.1:n.790G>A, NR_104035.3:n.568G>A, NR_104035.2:n.568G>A, NR_104035.1:n.732G>A, NM_001331069.3:c.380G>A, NM_001331069.2:c.380G>A, NM_001331069.1:c.380G>A, NM_001331073.3:c.122G>A, NM_001331073.2:c.122G>A, NM_001331073.1:c.122G>A, NR_138534.3:n.626G>A, NR_138534.2:n.626G>A, NR_138534.1:n.790G>A, NM_001331072.3:c.122G>A, NM_001331072.2:c.122G>A, NM_001331072.1:c.122G>A, XM_005269220.3:c.554G>A, XM_005269220.2:c.554G>A, XM_005269220.1:c.554G>A, NM_001331070.3:c.554G>A, NM_001331070.2:c.554G>A, NM_001331070.1:c.554G>A, NM_001331071.3:c.554G>A, NM_001331071.2:c.554G>A, NM_001331071.1:c.554G>A, NR_138532.3:n.568G>A, NR_138532.2:n.568G>A, NR_138532.1:n.732G>A, XM_017020204.3:c.554G>A, XM_017020204.2:c.554G>A, XM_017020204.1:c.554G>A, NM_001281731.2:c.380G>A, NM_001281731.1:c.380G>A, XM_047429865.1:c.380G>A, XM_047429866.1:c.380G>A, XM_047429867.1:c.-23G>A, NP_671723.1:p.Ser185Asn, NP_001317998.1:p.Ser127Asn, NP_001318002.1:p.Ser41Asn, NP_001318001.1:p.Ser41Asn, XP_005269277.1:p.Ser185Asn, NP_001317999.1:p.Ser185Asn, NP_001318000.1:p.Ser185Asn, XP_016875693.1:p.Ser185Asn, NP_001268660.1:p.Ser127Asn, XP_047285821.1:p.Ser127Asn, XP_047285822.1:p.Ser127Asn

                                16.

                                rs1448041472 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  12:50130675 (GRCh38)
                                  12:50524458 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:50130674:C:G
                                  Gene:
                                  CERS5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.50130675C>G, NC_000012.11:g.50524458C>G, NM_147190.5:c.1049G>C, NM_147190.4:c.1049G>C, NM_147190.3:c.1049G>C, NM_147190.2:c.1049G>C, NR_138535.3:n.2390G>C, NR_138535.2:n.2390G>C, NR_138535.1:n.2554G>C, NR_138536.3:n.2332G>C, NR_138536.2:n.2332G>C, NR_138536.1:n.2496G>C, NR_138533.3:n.2228G>C, NR_138533.2:n.2228G>C, NR_138533.1:n.2392G>C, NR_104035.3:n.2170G>C, NR_104035.2:n.2170G>C, NR_104035.1:n.2334G>C, NM_001331069.3:c.*6G>C, NM_001331069.2:c.*6G>C, NM_001331069.1:c.*6G>C, NM_001331073.3:c.*6G>C, NM_001331073.2:c.*6G>C, NM_001331073.1:c.*6G>C, NR_138534.3:n.1370G>C, NR_138534.2:n.1370G>C, NR_138534.1:n.1534G>C, NM_001331072.3:c.617G>C, NM_001331072.2:c.617G>C, NM_001331072.1:c.617G>C, XM_005269220.3:c.1195G>C, XM_005269220.2:c.1195G>C, XM_005269220.1:c.1195G>C, NM_001331070.3:c.*6G>C, NM_001331070.2:c.*6G>C, NM_001331070.1:c.*6G>C, NM_001331071.3:c.*6G>C, NM_001331071.2:c.*6G>C, NM_001331071.1:c.*6G>C, NR_138532.3:n.1166G>C, NR_138532.2:n.1166G>C, NR_138532.1:n.1330G>C, NM_001281731.2:c.875G>C, NM_001281731.1:c.875G>C, XM_047429865.1:c.1021G>C, XM_047429866.1:c.*6G>C, XM_047429867.1:c.619G>C, NP_671723.1:p.Ser350Thr, NP_001318001.1:p.Ser206Thr, XP_005269277.1:p.Val399Leu, NP_001268660.1:p.Ser292Thr, XP_047285821.1:p.Val341Leu, XP_047285823.1:p.Val207Leu

                                  17.

                                  rs1443042310 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:50143192 (GRCh38)
                                    12:50536975 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:50143191:T:C
                                    Gene:
                                    CERS5 (Varview), LOC124902931 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000111/1 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.50143192T>C, NC_000012.11:g.50536975T>C, NM_147190.5:c.316A>G, NM_147190.4:c.316A>G, NM_147190.3:c.316A>G, NM_147190.2:c.316A>G, NR_138535.3:n.550A>G, NR_138535.2:n.550A>G, NR_138535.1:n.714A>G, NR_138536.3:n.550A>G, NR_138536.2:n.550A>G, NR_138536.1:n.714A>G, NR_138533.3:n.388A>G, NR_138533.2:n.388A>G, NR_138533.1:n.552A>G, NR_104035.3:n.388A>G, NR_104035.2:n.388A>G, NR_104035.1:n.552A>G, NM_001331069.3:c.142A>G, NM_001331069.2:c.142A>G, NM_001331069.1:c.142A>G, NM_001331073.3:c.-117A>G, NM_001331073.2:c.-117A>G, NM_001331073.1:c.-117A>G, NR_138534.3:n.388A>G, NR_138534.2:n.388A>G, NR_138534.1:n.552A>G, NM_001331072.3:c.-117A>G, NM_001331072.2:c.-117A>G, NM_001331072.1:c.-117A>G, XM_005269220.3:c.316A>G, XM_005269220.2:c.316A>G, XM_005269220.1:c.316A>G, NM_001331070.3:c.316A>G, NM_001331070.2:c.316A>G, NM_001331070.1:c.316A>G, NM_001331071.3:c.316A>G, NM_001331071.2:c.316A>G, NM_001331071.1:c.316A>G, NR_138532.3:n.388A>G, NR_138532.2:n.388A>G, NR_138532.1:n.552A>G, XM_017020204.3:c.316A>G, XM_017020204.2:c.316A>G, XM_017020204.1:c.316A>G, NM_001281731.2:c.142A>G, NM_001281731.1:c.142A>G, XM_047429865.1:c.142A>G, XM_047429866.1:c.142A>G, NP_671723.1:p.Lys106Glu, NP_001317998.1:p.Lys48Glu, XP_005269277.1:p.Lys106Glu, NP_001317999.1:p.Lys106Glu, NP_001318000.1:p.Lys106Glu, XP_016875693.1:p.Lys106Glu, NP_001268660.1:p.Lys48Glu, XP_047285821.1:p.Lys48Glu, XP_047285822.1:p.Lys48Glu

                                    18.

                                    rs1442189056 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:50167292 (GRCh38)
                                      12:50561075 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:50167291:C:T
                                      Gene:
                                      CERS5 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.50167292C>T, NC_000012.11:g.50561075C>T, NM_147190.5:c.6G>A, NM_147190.4:c.6G>A, NM_147190.3:c.6G>A, NM_147190.2:c.6G>A, NR_138535.3:n.78G>A, NR_138535.2:n.78G>A, NR_138535.1:n.242G>A, NR_138536.3:n.78G>A, NR_138536.2:n.78G>A, NR_138536.1:n.242G>A, NR_138533.3:n.78G>A, NR_138533.2:n.78G>A, NR_138533.1:n.242G>A, NR_104035.3:n.78G>A, NR_104035.2:n.78G>A, NR_104035.1:n.242G>A, NM_001331069.3:c.-370G>A, NM_001331069.2:c.-370G>A, NM_001331069.1:c.-370G>A, NM_001331073.3:c.-589G>A, NM_001331073.2:c.-589G>A, NM_001331073.1:c.-589G>A, NR_138534.3:n.78G>A, NR_138534.2:n.78G>A, NR_138534.1:n.242G>A, NM_001331072.3:c.-589G>A, NM_001331072.2:c.-589G>A, NM_001331072.1:c.-589G>A, XM_005269220.3:c.6G>A, XM_005269220.2:c.6G>A, XM_005269220.1:c.6G>A, NM_001331070.3:c.6G>A, NM_001331070.2:c.6G>A, NM_001331070.1:c.6G>A, NM_001331071.3:c.6G>A, NM_001331071.2:c.6G>A, NM_001331071.1:c.6G>A, NR_138532.3:n.78G>A, NR_138532.2:n.78G>A, NR_138532.1:n.242G>A, XM_017020204.3:c.6G>A, XM_017020204.2:c.6G>A, XM_017020204.1:c.6G>A, NM_001281731.2:c.-370G>A, NM_001281731.1:c.-370G>A

                                      19.

                                      rs1439434670 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        12:50167101 (GRCh38)
                                        12:50560884 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:50167100:C:A,NC_000012.12:50167100:C:T
                                        Gene:
                                        CERS5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_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_000012.12:g.50167101C>A, NC_000012.12:g.50167101C>T, NC_000012.11:g.50560884C>A, NC_000012.11:g.50560884C>T, NM_147190.5:c.197G>T, NM_147190.5:c.197G>A, NM_147190.4:c.197G>T, NM_147190.4:c.197G>A, NM_147190.3:c.197G>T, NM_147190.3:c.197G>A, NM_147190.2:c.197G>T, NM_147190.2:c.197G>A, NR_138535.3:n.269G>T, NR_138535.3:n.269G>A, NR_138535.2:n.269G>T, NR_138535.2:n.269G>A, NR_138535.1:n.433G>T, NR_138535.1:n.433G>A, NR_138536.3:n.269G>T, NR_138536.3:n.269G>A, NR_138536.2:n.269G>T, NR_138536.2:n.269G>A, NR_138536.1:n.433G>T, NR_138536.1:n.433G>A, NR_138533.3:n.269G>T, NR_138533.3:n.269G>A, NR_138533.2:n.269G>T, NR_138533.2:n.269G>A, NR_138533.1:n.433G>T, NR_138533.1:n.433G>A, NR_104035.3:n.269G>T, NR_104035.3:n.269G>A, NR_104035.2:n.269G>T, NR_104035.2:n.269G>A, NR_104035.1:n.433G>T, NR_104035.1:n.433G>A, NM_001331069.3:c.-179G>T, NM_001331069.3:c.-179G>A, NM_001331069.2:c.-179G>T, NM_001331069.2:c.-179G>A, NM_001331069.1:c.-179G>T, NM_001331069.1:c.-179G>A, NM_001331073.3:c.-398G>T, NM_001331073.3:c.-398G>A, NM_001331073.2:c.-398G>T, NM_001331073.2:c.-398G>A, NM_001331073.1:c.-398G>T, NM_001331073.1:c.-398G>A, NR_138534.3:n.269G>T, NR_138534.3:n.269G>A, NR_138534.2:n.269G>T, NR_138534.2:n.269G>A, NR_138534.1:n.433G>T, NR_138534.1:n.433G>A, NM_001331072.3:c.-398G>T, NM_001331072.3:c.-398G>A, NM_001331072.2:c.-398G>T, NM_001331072.2:c.-398G>A, NM_001331072.1:c.-398G>T, NM_001331072.1:c.-398G>A, XM_005269220.3:c.197G>T, XM_005269220.3:c.197G>A, XM_005269220.2:c.197G>T, XM_005269220.2:c.197G>A, XM_005269220.1:c.197G>T, XM_005269220.1:c.197G>A, NM_001331070.3:c.197G>T, NM_001331070.3:c.197G>A, NM_001331070.2:c.197G>T, NM_001331070.2:c.197G>A, NM_001331070.1:c.197G>T, NM_001331070.1:c.197G>A, NM_001331071.3:c.197G>T, NM_001331071.3:c.197G>A, NM_001331071.2:c.197G>T, NM_001331071.2:c.197G>A, NM_001331071.1:c.197G>T, NM_001331071.1:c.197G>A, NR_138532.3:n.269G>T, NR_138532.3:n.269G>A, NR_138532.2:n.269G>T, NR_138532.2:n.269G>A, NR_138532.1:n.433G>T, NR_138532.1:n.433G>A, XM_017020204.3:c.197G>T, XM_017020204.3:c.197G>A, XM_017020204.2:c.197G>T, XM_017020204.2:c.197G>A, XM_017020204.1:c.197G>T, XM_017020204.1:c.197G>A, NM_001281731.2:c.-179G>T, NM_001281731.2:c.-179G>A, NM_001281731.1:c.-179G>T, NM_001281731.1:c.-179G>A, NP_671723.1:p.Arg66Leu, NP_671723.1:p.Arg66Gln, XP_005269277.1:p.Arg66Leu, XP_005269277.1:p.Arg66Gln, NP_001317999.1:p.Arg66Leu, NP_001317999.1:p.Arg66Gln, NP_001318000.1:p.Arg66Leu, NP_001318000.1:p.Arg66Gln, XP_016875693.1:p.Arg66Leu, XP_016875693.1:p.Arg66Gln

                                        20.

                                        rs1435183255 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAG>- [Show Flanks]
                                          Chromosome:
                                          12:50136017 (GRCh38)
                                          12:50529800 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:50136014:AGAAG:AG
                                          Gene:
                                          CERS5 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000012.12:g.50136017_50136019del, NC_000012.11:g.50529800_50529802del, NM_147190.5:c.689_691del, NM_147190.4:c.689_691del, NM_147190.3:c.689_691del, NM_147190.2:c.689_691del, NR_138535.3:n.923_925del, NR_138535.2:n.923_925del, NR_138535.1:n.1087_1089del, NR_138536.3:n.865_867del, NR_138536.2:n.865_867del, NR_138536.1:n.1029_1031del, NR_138533.3:n.761_763del, NR_138533.2:n.761_763del, NR_138533.1:n.925_927del, NR_104035.3:n.703_705del, NR_104035.2:n.703_705del, NR_104035.1:n.867_869del, NM_001331069.3:c.515_517del, NM_001331069.2:c.515_517del, NM_001331069.1:c.515_517del, NM_001331073.3:c.257_259del, NM_001331073.2:c.257_259del, NM_001331073.1:c.257_259del, NR_138534.3:n.761_763del, NR_138534.2:n.761_763del, NR_138534.1:n.925_927del, NM_001331072.3:c.257_259del, NM_001331072.2:c.257_259del, NM_001331072.1:c.257_259del, XM_005269220.3:c.689_691del, XM_005269220.2:c.689_691del, XM_005269220.1:c.689_691del, NM_001331070.3:c.689_691del, NM_001331070.2:c.689_691del, NM_001331070.1:c.689_691del, NM_001331071.3:c.689_691del, NM_001331071.2:c.689_691del, NM_001331071.1:c.689_691del, NR_138532.3:n.703_705del, NR_138532.2:n.703_705del, NR_138532.1:n.867_869del, XM_017020204.3:c.689_691del, XM_017020204.2:c.689_691del, XM_017020204.1:c.689_691del, NM_001281731.2:c.515_517del, NM_001281731.1:c.515_517del, XM_047429865.1:c.515_517del, XM_047429866.1:c.515_517del, XM_047429867.1:c.113_115del, NP_671723.1:p.Phe230del, NP_001317998.1:p.Phe172del, NP_001318002.1:p.Phe86del, NP_001318001.1:p.Phe86del, XP_005269277.1:p.Phe230del, NP_001317999.1:p.Phe230del, NP_001318000.1:p.Phe230del, XP_016875693.1:p.Phe230del, NP_001268660.1:p.Phe172del, XP_047285821.1:p.Phe172del, XP_047285822.1:p.Phe172del, XP_047285823.1:p.Phe38del

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