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Items: 1 to 20 of 293

1.

rs1490783349 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:219210644 (GRCh38)
    1:219383986 (GRCh37)
    Canonical SPDI:
    NC_000001.11:219210643:C:A
    Gene:
    LYPLAL1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,stop_gained,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.219210644C>A, NC_000001.10:g.219383986C>A, NM_138794.5:c.474C>A, NM_138794.4:c.474C>A, NM_138794.3:c.474C>A, XR_001736964.3:n.514C>A, XR_001736964.2:n.514C>A, XR_001736964.1:n.545C>A, XM_017000271.3:c.501C>A, XM_017000271.2:c.501C>A, XM_017000271.1:c.501C>A, XR_001736968.3:n.439C>A, XR_001736968.2:n.439C>A, XR_001736968.1:n.470C>A, XR_001736965.3:n.514C>A, XR_001736965.2:n.514C>A, XR_001736965.1:n.545C>A, XR_001736967.3:n.487C>A, XR_001736967.2:n.515C>A, XR_001736967.1:n.517C>A, NM_001300771.2:c.360C>A, NM_001300771.1:c.360C>A, NM_001350628.2:c.501C>A, NM_001350628.1:c.501C>A, NM_001350629.2:c.453C>A, NM_001350629.1:c.453C>A, NM_001300772.2:c.360C>A, NM_001300772.1:c.360C>A, NM_001300770.2:c.426C>A, NM_001300770.1:c.426C>A, NM_001300769.2:c.321C>A, NM_001300769.1:c.321C>A, XR_007078557.1:n.514C>A, XM_047445134.1:c.474C>A, XM_047445138.1:c.426C>A, XR_007078558.1:n.514C>A, XR_007078563.1:n.487C>A, XR_007078566.1:n.487C>A, XR_007078569.1:n.439C>A, XR_007078556.1:n.514C>A, XR_007078567.1:n.439C>A, XR_007078559.1:n.487C>A, XR_007078564.1:n.487C>A, XR_007078555.1:n.514C>A, XR_007078561.1:n.487C>A, XR_007078568.1:n.439C>A, XR_007078560.1:n.487C>A, XR_007078562.1:n.487C>A, XR_007078565.1:n.487C>A, NP_620149.2:p.Tyr158Ter, XP_016855760.1:p.Tyr167Ter, NP_001287700.1:p.Tyr120Ter, NP_001337557.1:p.Tyr167Ter, NP_001337558.1:p.Tyr151Ter, NP_001287701.1:p.Tyr120Ter, NP_001287699.1:p.Tyr142Ter, NP_001287698.1:p.Tyr107Ter, XP_047301090.1:p.Tyr158Ter, XP_047301094.1:p.Tyr142Ter

    2.

    rs1490529737 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      1:219179400 (GRCh38)
      1:219352742 (GRCh37)
      Canonical SPDI:
      NC_000001.11:219179399:T:G
      Gene:
      LYPLAL1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1489417159 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:219211677 (GRCh38)
        1:219385019 (GRCh37)
        Canonical SPDI:
        NC_000001.11:219211676:G:A
        Gene:
        LYPLAL1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.219211677G>A, NC_000001.10:g.219385019G>A, NM_138794.5:c.663G>A, NM_138794.4:c.663G>A, NM_138794.3:c.663G>A, XR_001736964.3:n.703G>A, XR_001736964.2:n.703G>A, XR_001736964.1:n.734G>A, XM_017000271.3:c.690G>A, XM_017000271.2:c.690G>A, XM_017000271.1:c.690G>A, XR_001736968.3:n.628G>A, XR_001736968.2:n.628G>A, XR_001736968.1:n.659G>A, XR_001736965.3:n.703G>A, XR_001736965.2:n.703G>A, XR_001736965.1:n.734G>A, XR_001736967.3:n.676G>A, XR_001736967.2:n.704G>A, XR_001736967.1:n.706G>A, NM_001300771.2:c.549G>A, NM_001300771.1:c.549G>A, NM_001350628.2:c.690G>A, NM_001350628.1:c.690G>A, NM_001350629.2:c.642G>A, NM_001350629.1:c.642G>A, NM_001300772.2:c.549G>A, NM_001300772.1:c.549G>A, NM_001300770.2:c.615G>A, NM_001300770.1:c.615G>A, NM_001300769.2:c.510G>A, NM_001300769.1:c.510G>A, XR_007078557.1:n.703G>A, XM_047445134.1:c.663G>A, XM_047445138.1:c.615G>A, XR_007078558.1:n.703G>A, XR_007078563.1:n.676G>A, XR_007078566.1:n.676G>A, XR_007078569.1:n.628G>A, XR_007078556.1:n.703G>A, XR_007078567.1:n.628G>A, XR_007078559.1:n.676G>A, XR_007078564.1:n.676G>A, XR_007078555.1:n.703G>A, XR_007078561.1:n.676G>A, XR_007078568.1:n.628G>A, XR_007078560.1:n.676G>A, XR_007078562.1:n.676G>A, XR_007078565.1:n.676G>A

        4.

        rs1488960015 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          1:219193150 (GRCh38)
          1:219366492 (GRCh37)
          Canonical SPDI:
          NC_000001.11:219193149:G:A,NC_000001.11:219193149:G:C,NC_000001.11:219193149:G:T
          Gene:
          LYPLAL1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          A=0.000008/1 (ExAC)
          HGVS:
          NC_000001.11:g.219193150G>A, NC_000001.11:g.219193150G>C, NC_000001.11:g.219193150G>T, NC_000001.10:g.219366492G>A, NC_000001.10:g.219366492G>C, NC_000001.10:g.219366492G>T, NM_138794.5:c.260G>A, NM_138794.5:c.260G>C, NM_138794.5:c.260G>T, NM_138794.4:c.260G>A, NM_138794.4:c.260G>C, NM_138794.4:c.260G>T, NM_138794.3:c.260G>A, NM_138794.3:c.260G>C, NM_138794.3:c.260G>T, XR_001736964.3:n.300G>A, XR_001736964.3:n.300G>C, XR_001736964.3:n.300G>T, XR_001736964.2:n.300G>A, XR_001736964.2:n.300G>C, XR_001736964.2:n.300G>T, XR_001736964.1:n.331G>A, XR_001736964.1:n.331G>C, XR_001736964.1:n.331G>T, XM_017000271.3:c.287G>A, XM_017000271.3:c.287G>C, XM_017000271.3:c.287G>T, XM_017000271.2:c.287G>A, XM_017000271.2:c.287G>C, XM_017000271.2:c.287G>T, XM_017000271.1:c.287G>A, XM_017000271.1:c.287G>C, XM_017000271.1:c.287G>T, XR_001736968.3:n.225G>A, XR_001736968.3:n.225G>C, XR_001736968.3:n.225G>T, XR_001736968.2:n.225G>A, XR_001736968.2:n.225G>C, XR_001736968.2:n.225G>T, XR_001736968.1:n.256G>A, XR_001736968.1:n.256G>C, XR_001736968.1:n.256G>T, XR_001736965.3:n.300G>A, XR_001736965.3:n.300G>C, XR_001736965.3:n.300G>T, XR_001736965.2:n.300G>A, XR_001736965.2:n.300G>C, XR_001736965.2:n.300G>T, XR_001736965.1:n.331G>A, XR_001736965.1:n.331G>C, XR_001736965.1:n.331G>T, XR_001736967.3:n.273G>A, XR_001736967.3:n.273G>C, XR_001736967.3:n.273G>T, XR_001736967.2:n.301G>A, XR_001736967.2:n.301G>C, XR_001736967.2:n.301G>T, XR_001736967.1:n.303G>A, XR_001736967.1:n.303G>C, XR_001736967.1:n.303G>T, NM_001300771.2:c.146G>A, NM_001300771.2:c.146G>C, NM_001300771.2:c.146G>T, NM_001300771.1:c.146G>A, NM_001300771.1:c.146G>C, NM_001300771.1:c.146G>T, NM_001350628.2:c.287G>A, NM_001350628.2:c.287G>C, NM_001350628.2:c.287G>T, NM_001350628.1:c.287G>A, NM_001350628.1:c.287G>C, NM_001350628.1:c.287G>T, NM_001350629.2:c.239G>A, NM_001350629.2:c.239G>C, NM_001350629.2:c.239G>T, NM_001350629.1:c.239G>A, NM_001350629.1:c.239G>C, NM_001350629.1:c.239G>T, NM_001300772.2:c.146G>A, NM_001300772.2:c.146G>C, NM_001300772.2:c.146G>T, NM_001300772.1:c.146G>A, NM_001300772.1:c.146G>C, NM_001300772.1:c.146G>T, NM_001300770.2:c.212G>A, NM_001300770.2:c.212G>C, NM_001300770.2:c.212G>T, NM_001300770.1:c.212G>A, NM_001300770.1:c.212G>C, NM_001300770.1:c.212G>T, XR_007078557.1:n.300G>A, XR_007078557.1:n.300G>C, XR_007078557.1:n.300G>T, XM_047445134.1:c.260G>A, XM_047445134.1:c.260G>C, XM_047445134.1:c.260G>T, XM_047445138.1:c.212G>A, XM_047445138.1:c.212G>C, XM_047445138.1:c.212G>T, XR_007078558.1:n.300G>A, XR_007078558.1:n.300G>C, XR_007078558.1:n.300G>T, XR_007078563.1:n.273G>A, XR_007078563.1:n.273G>C, XR_007078563.1:n.273G>T, XR_007078566.1:n.273G>A, XR_007078566.1:n.273G>C, XR_007078566.1:n.273G>T, XR_007078569.1:n.225G>A, XR_007078569.1:n.225G>C, XR_007078569.1:n.225G>T, XR_007078556.1:n.300G>A, XR_007078556.1:n.300G>C, XR_007078556.1:n.300G>T, XR_007078567.1:n.225G>A, XR_007078567.1:n.225G>C, XR_007078567.1:n.225G>T, XR_007078559.1:n.273G>A, XR_007078559.1:n.273G>C, XR_007078559.1:n.273G>T, XR_007078564.1:n.273G>A, XR_007078564.1:n.273G>C, XR_007078564.1:n.273G>T, XR_007078555.1:n.300G>A, XR_007078555.1:n.300G>C, XR_007078555.1:n.300G>T, XR_007078561.1:n.273G>A, XR_007078561.1:n.273G>C, XR_007078561.1:n.273G>T, XR_007078568.1:n.225G>A, XR_007078568.1:n.225G>C, XR_007078568.1:n.225G>T, XR_007078560.1:n.273G>A, XR_007078560.1:n.273G>C, XR_007078560.1:n.273G>T, XR_007078562.1:n.273G>A, XR_007078562.1:n.273G>C, XR_007078562.1:n.273G>T, XR_007078565.1:n.273G>A, XR_007078565.1:n.273G>C, XR_007078565.1:n.273G>T, NP_620149.2:p.Cys87Tyr, NP_620149.2:p.Cys87Ser, NP_620149.2:p.Cys87Phe, XP_016855760.1:p.Cys96Tyr, XP_016855760.1:p.Cys96Ser, XP_016855760.1:p.Cys96Phe, NP_001287700.1:p.Cys49Tyr, NP_001287700.1:p.Cys49Ser, NP_001287700.1:p.Cys49Phe, NP_001337557.1:p.Cys96Tyr, NP_001337557.1:p.Cys96Ser, NP_001337557.1:p.Cys96Phe, NP_001337558.1:p.Cys80Tyr, NP_001337558.1:p.Cys80Ser, NP_001337558.1:p.Cys80Phe, NP_001287701.1:p.Cys49Tyr, NP_001287701.1:p.Cys49Ser, NP_001287701.1:p.Cys49Phe, NP_001287699.1:p.Cys71Tyr, NP_001287699.1:p.Cys71Ser, NP_001287699.1:p.Cys71Phe, XP_047301090.1:p.Cys87Tyr, XP_047301090.1:p.Cys87Ser, XP_047301090.1:p.Cys87Phe, XP_047301094.1:p.Cys71Tyr, XP_047301094.1:p.Cys71Ser, XP_047301094.1:p.Cys71Phe

          5.

          rs1484001712 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            1:219173909 (GRCh38)
            1:219347251 (GRCh37)
            Canonical SPDI:
            NC_000001.11:219173908:T:C,NC_000001.11:219173908:T:G
            Gene:
            LYPLAL1 (Varview), LYPLAL1-DT (Varview)
            Functional Consequence:
            2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            G=0.00443/8 (Korea1K)
            HGVS:
            NC_000001.11:g.219173909T>C, NC_000001.11:g.219173909T>G, NC_000001.10:g.219347251T>C, NC_000001.10:g.219347251T>G, NM_138794.5:c.19T>C, NM_138794.5:c.19T>G, NM_138794.4:c.19T>C, NM_138794.4:c.19T>G, NM_138794.3:c.19T>C, NM_138794.3:c.19T>G, XR_001736964.3:n.32T>C, XR_001736964.3:n.32T>G, XR_001736964.2:n.32T>C, XR_001736964.2:n.32T>G, XR_001736964.1:n.63T>C, XR_001736964.1:n.63T>G, XM_017000271.3:c.19T>C, XM_017000271.3:c.19T>G, XM_017000271.2:c.19T>C, XM_017000271.2:c.19T>G, XM_017000271.1:c.19T>C, XM_017000271.1:c.19T>G, XR_001736968.3:n.32T>C, XR_001736968.3:n.32T>G, XR_001736968.2:n.32T>C, XR_001736968.2:n.32T>G, XR_001736968.1:n.63T>C, XR_001736968.1:n.63T>G, XR_001736965.3:n.32T>C, XR_001736965.3:n.32T>G, XR_001736965.2:n.32T>C, XR_001736965.2:n.32T>G, XR_001736965.1:n.63T>C, XR_001736965.1:n.63T>G, XR_001736967.3:n.32T>C, XR_001736967.3:n.32T>G, XR_001736967.2:n.60T>C, XR_001736967.2:n.60T>G, XR_001736967.1:n.62T>C, XR_001736967.1:n.62T>G, NM_001300771.2:c.-419T>C, NM_001300771.2:c.-419T>G, NM_001350628.2:c.19T>C, NM_001350628.2:c.19T>G, NM_001350628.1:c.19T>C, NM_001350628.1:c.19T>G, NM_001350629.2:c.19T>C, NM_001350629.2:c.19T>G, NM_001350629.1:c.19T>C, NM_001350629.1:c.19T>G, NM_001300770.2:c.19T>C, NM_001300770.2:c.19T>G, NM_001300770.1:c.19T>C, NM_001300770.1:c.19T>G, NM_001300769.2:c.19T>C, NM_001300769.2:c.19T>G, NM_001300769.1:c.19T>C, NM_001300769.1:c.19T>G, XR_007078557.1:n.32T>C, XR_007078557.1:n.32T>G, XM_047445134.1:c.19T>C, XM_047445134.1:c.19T>G, XM_047445138.1:c.19T>C, XM_047445138.1:c.19T>G, XR_007078558.1:n.32T>C, XR_007078558.1:n.32T>G, XR_007078563.1:n.32T>C, XR_007078563.1:n.32T>G, XR_007078566.1:n.32T>C, XR_007078566.1:n.32T>G, XR_007078569.1:n.32T>C, XR_007078569.1:n.32T>G, XR_007078556.1:n.32T>C, XR_007078556.1:n.32T>G, XR_007078567.1:n.32T>C, XR_007078567.1:n.32T>G, XR_007078559.1:n.32T>C, XR_007078559.1:n.32T>G, XR_007078564.1:n.32T>C, XR_007078564.1:n.32T>G, XR_007078555.1:n.32T>C, XR_007078555.1:n.32T>G, XR_007078561.1:n.32T>C, XR_007078561.1:n.32T>G, XR_007078568.1:n.32T>C, XR_007078568.1:n.32T>G, XR_007078560.1:n.32T>C, XR_007078560.1:n.32T>G, XR_007078562.1:n.32T>C, XR_007078562.1:n.32T>G, XR_007078565.1:n.32T>C, XR_007078565.1:n.32T>G, NP_620149.2:p.Ser7Pro, NP_620149.2:p.Ser7Ala, XP_016855760.1:p.Ser7Pro, XP_016855760.1:p.Ser7Ala, NP_001337557.1:p.Ser7Pro, NP_001337557.1:p.Ser7Ala, NP_001337558.1:p.Ser7Pro, NP_001337558.1:p.Ser7Ala, NP_001287699.1:p.Ser7Pro, NP_001287699.1:p.Ser7Ala, NP_001287698.1:p.Ser7Pro, NP_001287698.1:p.Ser7Ala, XP_047301090.1:p.Ser7Pro, XP_047301090.1:p.Ser7Ala, XP_047301094.1:p.Ser7Pro, XP_047301094.1:p.Ser7Ala

            6.

            rs1483612823 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              1:219211638 (GRCh38)
              1:219384980 (GRCh37)
              Canonical SPDI:
              NC_000001.11:219211637:T:G
              Gene:
              LYPLAL1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.219211638T>G, NC_000001.10:g.219384980T>G, NM_138794.5:c.624T>G, NM_138794.4:c.624T>G, NM_138794.3:c.624T>G, XR_001736964.3:n.664T>G, XR_001736964.2:n.664T>G, XR_001736964.1:n.695T>G, XM_017000271.3:c.651T>G, XM_017000271.2:c.651T>G, XM_017000271.1:c.651T>G, XR_001736968.3:n.589T>G, XR_001736968.2:n.589T>G, XR_001736968.1:n.620T>G, XR_001736965.3:n.664T>G, XR_001736965.2:n.664T>G, XR_001736965.1:n.695T>G, XR_001736967.3:n.637T>G, XR_001736967.2:n.665T>G, XR_001736967.1:n.667T>G, NM_001300771.2:c.510T>G, NM_001300771.1:c.510T>G, NM_001350628.2:c.651T>G, NM_001350628.1:c.651T>G, NM_001350629.2:c.603T>G, NM_001350629.1:c.603T>G, NM_001300772.2:c.510T>G, NM_001300772.1:c.510T>G, NM_001300770.2:c.576T>G, NM_001300770.1:c.576T>G, NM_001300769.2:c.471T>G, NM_001300769.1:c.471T>G, XR_007078557.1:n.664T>G, XM_047445134.1:c.624T>G, XM_047445138.1:c.576T>G, XR_007078558.1:n.664T>G, XR_007078563.1:n.637T>G, XR_007078566.1:n.637T>G, XR_007078569.1:n.589T>G, XR_007078556.1:n.664T>G, XR_007078567.1:n.589T>G, XR_007078559.1:n.637T>G, XR_007078564.1:n.637T>G, XR_007078555.1:n.664T>G, XR_007078561.1:n.637T>G, XR_007078568.1:n.589T>G, XR_007078560.1:n.637T>G, XR_007078562.1:n.637T>G, XR_007078565.1:n.637T>G, NP_620149.2:p.Asn208Lys, XP_016855760.1:p.Asn217Lys, NP_001287700.1:p.Asn170Lys, NP_001337557.1:p.Asn217Lys, NP_001337558.1:p.Asn201Lys, NP_001287701.1:p.Asn170Lys, NP_001287699.1:p.Asn192Lys, NP_001287698.1:p.Asn157Lys, XP_047301090.1:p.Asn208Lys, XP_047301094.1:p.Asn192Lys

              7.

              rs1478197804 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:219211722 (GRCh38)
                1:219385064 (GRCh37)
                Canonical SPDI:
                NC_000001.11:219211721:A:G
                Gene:
                LYPLAL1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000001.11:g.219211722A>G, NC_000001.10:g.219385064A>G, NM_138794.5:c.708A>G, NM_138794.4:c.708A>G, NM_138794.3:c.708A>G, XR_001736964.3:n.748A>G, XR_001736964.2:n.748A>G, XR_001736964.1:n.779A>G, XM_017000271.3:c.735A>G, XM_017000271.2:c.735A>G, XM_017000271.1:c.735A>G, XR_001736968.3:n.673A>G, XR_001736968.2:n.673A>G, XR_001736968.1:n.704A>G, XR_001736965.3:n.748A>G, XR_001736965.2:n.748A>G, XR_001736965.1:n.779A>G, XR_001736967.3:n.721A>G, XR_001736967.2:n.749A>G, XR_001736967.1:n.751A>G, NM_001300771.2:c.594A>G, NM_001300771.1:c.594A>G, NM_001350628.2:c.735A>G, NM_001350628.1:c.735A>G, NM_001350629.2:c.687A>G, NM_001350629.1:c.687A>G, NM_001300772.2:c.594A>G, NM_001300772.1:c.594A>G, NM_001300770.2:c.660A>G, NM_001300770.1:c.660A>G, NM_001300769.2:c.555A>G, NM_001300769.1:c.555A>G, XR_007078557.1:n.748A>G, XM_047445134.1:c.708A>G, XM_047445138.1:c.660A>G, XR_007078558.1:n.748A>G, XR_007078563.1:n.721A>G, XR_007078566.1:n.721A>G, XR_007078569.1:n.673A>G, XR_007078556.1:n.748A>G, XR_007078567.1:n.673A>G, XR_007078559.1:n.721A>G, XR_007078564.1:n.721A>G, XR_007078555.1:n.748A>G, XR_007078561.1:n.721A>G, XR_007078568.1:n.673A>G, XR_007078560.1:n.721A>G, XR_007078562.1:n.721A>G, XR_007078565.1:n.721A>G

                8.

                rs1477861181 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:219193087 (GRCh38)
                  1:219366429 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:219193086:A:G
                  Gene:
                  LYPLAL1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  G=0.000035/1 (TOMMO)
                  A=0.5/1 (SGDP_PRJ)
                  HGVS:
                  NC_000001.11:g.219193087A>G, NC_000001.10:g.219366429A>G, NM_138794.5:c.197A>G, NM_138794.4:c.197A>G, NM_138794.3:c.197A>G, XR_001736964.3:n.237A>G, XR_001736964.2:n.237A>G, XR_001736964.1:n.268A>G, XM_017000271.3:c.224A>G, XM_017000271.2:c.224A>G, XM_017000271.1:c.224A>G, XR_001736965.3:n.237A>G, XR_001736965.2:n.237A>G, XR_001736965.1:n.268A>G, XR_001736967.3:n.210A>G, XR_001736967.2:n.238A>G, XR_001736967.1:n.240A>G, NM_001300771.2:c.83A>G, NM_001300771.1:c.83A>G, NM_001350628.2:c.224A>G, NM_001350628.1:c.224A>G, NM_001300772.2:c.83A>G, NM_001300772.1:c.83A>G, XR_007078557.1:n.237A>G, XM_047445134.1:c.197A>G, XR_007078558.1:n.237A>G, XR_007078563.1:n.210A>G, XR_007078566.1:n.210A>G, XR_007078556.1:n.237A>G, XR_007078559.1:n.210A>G, XR_007078564.1:n.210A>G, XR_007078555.1:n.237A>G, XR_007078561.1:n.210A>G, XR_007078560.1:n.210A>G, XR_007078562.1:n.210A>G, XR_007078565.1:n.210A>G, NP_620149.2:p.Tyr66Cys, XP_016855760.1:p.Tyr75Cys, NP_001287700.1:p.Tyr28Cys, NP_001337557.1:p.Tyr75Cys, NP_001287701.1:p.Tyr28Cys, XP_047301090.1:p.Tyr66Cys

                  9.

                  rs1465772805 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:219193154 (GRCh38)
                    1:219366496 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:219193153:A:G
                    Gene:
                    LYPLAL1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.219193154A>G, NC_000001.10:g.219366496A>G, NM_138794.5:c.264A>G, NM_138794.4:c.264A>G, NM_138794.3:c.264A>G, XR_001736964.3:n.304A>G, XR_001736964.2:n.304A>G, XR_001736964.1:n.335A>G, XM_017000271.3:c.291A>G, XM_017000271.2:c.291A>G, XM_017000271.1:c.291A>G, XR_001736968.3:n.229A>G, XR_001736968.2:n.229A>G, XR_001736968.1:n.260A>G, XR_001736965.3:n.304A>G, XR_001736965.2:n.304A>G, XR_001736965.1:n.335A>G, XR_001736967.3:n.277A>G, XR_001736967.2:n.305A>G, XR_001736967.1:n.307A>G, NM_001300771.2:c.150A>G, NM_001300771.1:c.150A>G, NM_001350628.2:c.291A>G, NM_001350628.1:c.291A>G, NM_001350629.2:c.243A>G, NM_001350629.1:c.243A>G, NM_001300772.2:c.150A>G, NM_001300772.1:c.150A>G, NM_001300770.2:c.216A>G, NM_001300770.1:c.216A>G, XR_007078557.1:n.304A>G, XM_047445134.1:c.264A>G, XM_047445138.1:c.216A>G, XR_007078558.1:n.304A>G, XR_007078563.1:n.277A>G, XR_007078566.1:n.277A>G, XR_007078569.1:n.229A>G, XR_007078556.1:n.304A>G, XR_007078567.1:n.229A>G, XR_007078559.1:n.277A>G, XR_007078564.1:n.277A>G, XR_007078555.1:n.304A>G, XR_007078561.1:n.277A>G, XR_007078568.1:n.229A>G, XR_007078560.1:n.277A>G, XR_007078562.1:n.277A>G, XR_007078565.1:n.277A>G

                    10.

                    rs1463638125 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      1:219193238 (GRCh38)
                      1:219366580 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:219193237:C:A,NC_000001.11:219193237:C:T
                      Gene:
                      LYPLAL1 (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (GnomAD_exomes)
                      T=0.000008/2 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      A=0.000142/2 (TOMMO)
                      HGVS:
                      NC_000001.11:g.219193238C>A, NC_000001.11:g.219193238C>T, NC_000001.10:g.219366580C>A, NC_000001.10:g.219366580C>T, NM_138794.5:c.348C>A, NM_138794.5:c.348C>T, NM_138794.4:c.348C>A, NM_138794.4:c.348C>T, NM_138794.3:c.348C>A, NM_138794.3:c.348C>T, XR_001736964.3:n.388C>A, XR_001736964.3:n.388C>T, XR_001736964.2:n.388C>A, XR_001736964.2:n.388C>T, XR_001736964.1:n.419C>A, XR_001736964.1:n.419C>T, XM_017000271.3:c.375C>A, XM_017000271.3:c.375C>T, XM_017000271.2:c.375C>A, XM_017000271.2:c.375C>T, XM_017000271.1:c.375C>A, XM_017000271.1:c.375C>T, XR_001736968.3:n.313C>A, XR_001736968.3:n.313C>T, XR_001736968.2:n.313C>A, XR_001736968.2:n.313C>T, XR_001736968.1:n.344C>A, XR_001736968.1:n.344C>T, XR_001736965.3:n.388C>A, XR_001736965.3:n.388C>T, XR_001736965.2:n.388C>A, XR_001736965.2:n.388C>T, XR_001736965.1:n.419C>A, XR_001736965.1:n.419C>T, XR_001736967.3:n.361C>A, XR_001736967.3:n.361C>T, XR_001736967.2:n.389C>A, XR_001736967.2:n.389C>T, XR_001736967.1:n.391C>A, XR_001736967.1:n.391C>T, NM_001300771.2:c.234C>A, NM_001300771.2:c.234C>T, NM_001300771.1:c.234C>A, NM_001300771.1:c.234C>T, NM_001350628.2:c.375C>A, NM_001350628.2:c.375C>T, NM_001350628.1:c.375C>A, NM_001350628.1:c.375C>T, NM_001350629.2:c.327C>A, NM_001350629.2:c.327C>T, NM_001350629.1:c.327C>A, NM_001350629.1:c.327C>T, NM_001300772.2:c.234C>A, NM_001300772.2:c.234C>T, NM_001300772.1:c.234C>A, NM_001300772.1:c.234C>T, NM_001300770.2:c.300C>A, NM_001300770.2:c.300C>T, NM_001300770.1:c.300C>A, NM_001300770.1:c.300C>T, XR_007078557.1:n.388C>A, XR_007078557.1:n.388C>T, XM_047445134.1:c.348C>A, XM_047445134.1:c.348C>T, XM_047445138.1:c.300C>A, XM_047445138.1:c.300C>T, XR_007078558.1:n.388C>A, XR_007078558.1:n.388C>T, XR_007078563.1:n.361C>A, XR_007078563.1:n.361C>T, XR_007078566.1:n.361C>A, XR_007078566.1:n.361C>T, XR_007078569.1:n.313C>A, XR_007078569.1:n.313C>T, XR_007078556.1:n.388C>A, XR_007078556.1:n.388C>T, XR_007078567.1:n.313C>A, XR_007078567.1:n.313C>T, XR_007078559.1:n.361C>A, XR_007078559.1:n.361C>T, XR_007078564.1:n.361C>A, XR_007078564.1:n.361C>T, XR_007078555.1:n.388C>A, XR_007078555.1:n.388C>T, XR_007078561.1:n.361C>A, XR_007078561.1:n.361C>T, XR_007078568.1:n.313C>A, XR_007078568.1:n.313C>T, XR_007078560.1:n.361C>A, XR_007078560.1:n.361C>T, XR_007078562.1:n.361C>A, XR_007078562.1:n.361C>T, XR_007078565.1:n.361C>A, XR_007078565.1:n.361C>T, NP_620149.2:p.Asn116Lys, XP_016855760.1:p.Asn125Lys, NP_001287700.1:p.Asn78Lys, NP_001337557.1:p.Asn125Lys, NP_001337558.1:p.Asn109Lys, NP_001287701.1:p.Asn78Lys, NP_001287699.1:p.Asn100Lys, XP_047301090.1:p.Asn116Lys, XP_047301094.1:p.Asn100Lys

                      11.

                      rs1463331544 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        1:219211712 (GRCh38)
                        1:219385054 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:219211711:T:A
                        Gene:
                        LYPLAL1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.0004/4 (ALFA)
                        HGVS:
                        NC_000001.11:g.219211712T>A, NC_000001.10:g.219385054T>A, NM_138794.5:c.698T>A, NM_138794.4:c.698T>A, NM_138794.3:c.698T>A, XR_001736964.3:n.738T>A, XR_001736964.2:n.738T>A, XR_001736964.1:n.769T>A, XM_017000271.3:c.725T>A, XM_017000271.2:c.725T>A, XM_017000271.1:c.725T>A, XR_001736968.3:n.663T>A, XR_001736968.2:n.663T>A, XR_001736968.1:n.694T>A, XR_001736965.3:n.738T>A, XR_001736965.2:n.738T>A, XR_001736965.1:n.769T>A, XR_001736967.3:n.711T>A, XR_001736967.2:n.739T>A, XR_001736967.1:n.741T>A, NM_001300771.2:c.584T>A, NM_001300771.1:c.584T>A, NM_001350628.2:c.725T>A, NM_001350628.1:c.725T>A, NM_001350629.2:c.677T>A, NM_001350629.1:c.677T>A, NM_001300772.2:c.584T>A, NM_001300772.1:c.584T>A, NM_001300770.2:c.650T>A, NM_001300770.1:c.650T>A, NM_001300769.2:c.545T>A, NM_001300769.1:c.545T>A, XR_007078557.1:n.738T>A, XM_047445134.1:c.698T>A, XM_047445138.1:c.650T>A, XR_007078558.1:n.738T>A, XR_007078563.1:n.711T>A, XR_007078566.1:n.711T>A, XR_007078569.1:n.663T>A, XR_007078556.1:n.738T>A, XR_007078567.1:n.663T>A, XR_007078559.1:n.711T>A, XR_007078564.1:n.711T>A, XR_007078555.1:n.738T>A, XR_007078561.1:n.711T>A, XR_007078568.1:n.663T>A, XR_007078560.1:n.711T>A, XR_007078562.1:n.711T>A, XR_007078565.1:n.711T>A, NP_620149.2:p.Met233Lys, XP_016855760.1:p.Met242Lys, NP_001287700.1:p.Met195Lys, NP_001337557.1:p.Met242Lys, NP_001337558.1:p.Met226Lys, NP_001287701.1:p.Met195Lys, NP_001287699.1:p.Met217Lys, NP_001287698.1:p.Met182Lys, XP_047301090.1:p.Met233Lys, XP_047301094.1:p.Met217Lys

                        12.

                        rs1462418254 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:219179403 (GRCh38)
                          1:219352745 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:219179402:C:T
                          Gene:
                          LYPLAL1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1462066465 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:219179204 (GRCh38)
                            1:219352546 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:219179203:C:T
                            Gene:
                            LYPLAL1 (Varview)
                            Functional Consequence:
                            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)
                            T=0.000012/3 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.219179204C>T, NC_000001.10:g.219352546C>T, NM_138794.5:c.149C>T, NM_138794.4:c.149C>T, NM_138794.3:c.149C>T, XR_001736964.3:n.162C>T, XR_001736964.2:n.162C>T, XR_001736964.1:n.193C>T, XM_017000271.3:c.149C>T, XM_017000271.2:c.149C>T, XM_017000271.1:c.149C>T, XR_001736968.3:n.162C>T, XR_001736968.2:n.162C>T, XR_001736968.1:n.193C>T, XR_001736965.3:n.162C>T, XR_001736965.2:n.162C>T, XR_001736965.1:n.193C>T, XR_001736967.3:n.162C>T, XR_001736967.2:n.190C>T, XR_001736967.1:n.192C>T, NM_001300771.2:c.35C>T, NM_001300771.1:c.35C>T, NM_001350628.2:c.149C>T, NM_001350628.1:c.149C>T, NM_001350629.2:c.149C>T, NM_001350629.1:c.149C>T, NM_001300772.2:c.35C>T, NM_001300772.1:c.35C>T, NM_001300770.2:c.149C>T, NM_001300770.1:c.149C>T, NM_001300769.2:c.149C>T, NM_001300769.1:c.149C>T, XR_007078557.1:n.162C>T, XM_047445134.1:c.149C>T, XM_047445138.1:c.149C>T, XR_007078558.1:n.162C>T, XR_007078563.1:n.162C>T, XR_007078566.1:n.162C>T, XR_007078569.1:n.162C>T, XR_007078556.1:n.162C>T, XR_007078567.1:n.162C>T, XR_007078559.1:n.162C>T, XR_007078564.1:n.162C>T, XR_007078555.1:n.162C>T, XR_007078561.1:n.162C>T, XR_007078568.1:n.162C>T, XR_007078560.1:n.162C>T, XR_007078562.1:n.162C>T, XR_007078565.1:n.162C>T, NP_620149.2:p.Thr50Ile, XP_016855760.1:p.Thr50Ile, NP_001287700.1:p.Thr12Ile, NP_001337557.1:p.Thr50Ile, NP_001337558.1:p.Thr50Ile, NP_001287701.1:p.Thr12Ile, NP_001287699.1:p.Thr50Ile, NP_001287698.1:p.Thr50Ile, XP_047301090.1:p.Thr50Ile, XP_047301094.1:p.Thr50Ile

                            14.

                            rs1460267094 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              1:219193090 (GRCh38)
                              1:219366432 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:219193089:C:G
                              Gene:
                              LYPLAL1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.219193090C>G, NC_000001.10:g.219366432C>G, NM_138794.5:c.200C>G, NM_138794.4:c.200C>G, NM_138794.3:c.200C>G, XR_001736964.3:n.240C>G, XR_001736964.2:n.240C>G, XR_001736964.1:n.271C>G, XM_017000271.3:c.227C>G, XM_017000271.2:c.227C>G, XM_017000271.1:c.227C>G, XR_001736965.3:n.240C>G, XR_001736965.2:n.240C>G, XR_001736965.1:n.271C>G, XR_001736967.3:n.213C>G, XR_001736967.2:n.241C>G, XR_001736967.1:n.243C>G, NM_001300771.2:c.86C>G, NM_001300771.1:c.86C>G, NM_001350628.2:c.227C>G, NM_001350628.1:c.227C>G, NM_001300772.2:c.86C>G, NM_001300772.1:c.86C>G, XR_007078557.1:n.240C>G, XM_047445134.1:c.200C>G, XR_007078558.1:n.240C>G, XR_007078563.1:n.213C>G, XR_007078566.1:n.213C>G, XR_007078556.1:n.240C>G, XR_007078559.1:n.213C>G, XR_007078564.1:n.213C>G, XR_007078555.1:n.240C>G, XR_007078561.1:n.213C>G, XR_007078560.1:n.213C>G, XR_007078562.1:n.213C>G, XR_007078565.1:n.213C>G, NP_620149.2:p.Thr67Ser, XP_016855760.1:p.Thr76Ser, NP_001287700.1:p.Thr29Ser, NP_001337557.1:p.Thr76Ser, NP_001287701.1:p.Thr29Ser, XP_047301090.1:p.Thr67Ser

                              15.

                              rs1455888380 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:219210597 (GRCh38)
                                1:219383939 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:219210596:G:A
                                Gene:
                                LYPLAL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.0011/2 (Korea1K)
                                HGVS:
                                NC_000001.11:g.219210597G>A, NC_000001.10:g.219383939G>A, NM_138794.5:c.427G>A, NM_138794.4:c.427G>A, NM_138794.3:c.427G>A, XR_001736964.3:n.467G>A, XR_001736964.2:n.467G>A, XR_001736964.1:n.498G>A, XM_017000271.3:c.454G>A, XM_017000271.2:c.454G>A, XM_017000271.1:c.454G>A, XR_001736968.3:n.392G>A, XR_001736968.2:n.392G>A, XR_001736968.1:n.423G>A, XR_001736965.3:n.467G>A, XR_001736965.2:n.467G>A, XR_001736965.1:n.498G>A, XR_001736967.3:n.440G>A, XR_001736967.2:n.468G>A, XR_001736967.1:n.470G>A, NM_001300771.2:c.313G>A, NM_001300771.1:c.313G>A, NM_001350628.2:c.454G>A, NM_001350628.1:c.454G>A, NM_001350629.2:c.406G>A, NM_001350629.1:c.406G>A, NM_001300772.2:c.313G>A, NM_001300772.1:c.313G>A, NM_001300770.2:c.379G>A, NM_001300770.1:c.379G>A, NM_001300769.2:c.274G>A, NM_001300769.1:c.274G>A, XR_007078557.1:n.467G>A, XM_047445134.1:c.427G>A, XM_047445138.1:c.379G>A, XR_007078558.1:n.467G>A, XR_007078563.1:n.440G>A, XR_007078566.1:n.440G>A, XR_007078569.1:n.392G>A, XR_007078556.1:n.467G>A, XR_007078567.1:n.392G>A, XR_007078559.1:n.440G>A, XR_007078564.1:n.440G>A, XR_007078555.1:n.467G>A, XR_007078561.1:n.440G>A, XR_007078568.1:n.392G>A, XR_007078560.1:n.440G>A, XR_007078562.1:n.440G>A, XR_007078565.1:n.440G>A, NP_620149.2:p.Gly143Arg, XP_016855760.1:p.Gly152Arg, NP_001287700.1:p.Gly105Arg, NP_001337557.1:p.Gly152Arg, NP_001337558.1:p.Gly136Arg, NP_001287701.1:p.Gly105Arg, NP_001287699.1:p.Gly127Arg, NP_001287698.1:p.Gly92Arg, XP_047301090.1:p.Gly143Arg, XP_047301094.1:p.Gly127Arg

                                16.

                                rs1453556818 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:219193244 (GRCh38)
                                  1:219366586 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:219193243:A:G
                                  Gene:
                                  LYPLAL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.219193244A>G, NC_000001.10:g.219366586A>G, NM_138794.5:c.354A>G, NM_138794.4:c.354A>G, NM_138794.3:c.354A>G, XR_001736964.3:n.394A>G, XR_001736964.2:n.394A>G, XR_001736964.1:n.425A>G, XM_017000271.3:c.381A>G, XM_017000271.2:c.381A>G, XM_017000271.1:c.381A>G, XR_001736968.3:n.319A>G, XR_001736968.2:n.319A>G, XR_001736968.1:n.350A>G, XR_001736965.3:n.394A>G, XR_001736965.2:n.394A>G, XR_001736965.1:n.425A>G, XR_001736967.3:n.367A>G, XR_001736967.2:n.395A>G, XR_001736967.1:n.397A>G, NM_001300771.2:c.240A>G, NM_001300771.1:c.240A>G, NM_001350628.2:c.381A>G, NM_001350628.1:c.381A>G, NM_001350629.2:c.333A>G, NM_001350629.1:c.333A>G, NM_001300772.2:c.240A>G, NM_001300772.1:c.240A>G, NM_001300770.2:c.306A>G, NM_001300770.1:c.306A>G, XR_007078557.1:n.394A>G, XM_047445134.1:c.354A>G, XM_047445138.1:c.306A>G, XR_007078558.1:n.394A>G, XR_007078563.1:n.367A>G, XR_007078566.1:n.367A>G, XR_007078569.1:n.319A>G, XR_007078556.1:n.394A>G, XR_007078567.1:n.319A>G, XR_007078559.1:n.367A>G, XR_007078564.1:n.367A>G, XR_007078555.1:n.394A>G, XR_007078561.1:n.367A>G, XR_007078568.1:n.319A>G, XR_007078560.1:n.367A>G, XR_007078562.1:n.367A>G, XR_007078565.1:n.367A>G, NP_620149.2:p.Ile118Met, XP_016855760.1:p.Ile127Met, NP_001287700.1:p.Ile80Met, NP_001337557.1:p.Ile127Met, NP_001337558.1:p.Ile111Met, NP_001287701.1:p.Ile80Met, NP_001287699.1:p.Ile102Met, XP_047301090.1:p.Ile118Met, XP_047301094.1:p.Ile102Met

                                  17.

                                  rs1447861689 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:219210571 (GRCh38)
                                    1:219383913 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:219210570:C:T
                                    Gene:
                                    LYPLAL1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.219210571C>T, NC_000001.10:g.219383913C>T, NM_138794.5:c.401C>T, NM_138794.4:c.401C>T, NM_138794.3:c.401C>T, XR_001736964.3:n.441C>T, XR_001736964.2:n.441C>T, XR_001736964.1:n.472C>T, XM_017000271.3:c.428C>T, XM_017000271.2:c.428C>T, XM_017000271.1:c.428C>T, XR_001736968.3:n.366C>T, XR_001736968.2:n.366C>T, XR_001736968.1:n.397C>T, XR_001736965.3:n.441C>T, XR_001736965.2:n.441C>T, XR_001736965.1:n.472C>T, XR_001736967.3:n.414C>T, XR_001736967.2:n.442C>T, XR_001736967.1:n.444C>T, NM_001300771.2:c.287C>T, NM_001300771.1:c.287C>T, NM_001350628.2:c.428C>T, NM_001350628.1:c.428C>T, NM_001350629.2:c.380C>T, NM_001350629.1:c.380C>T, NM_001300772.2:c.287C>T, NM_001300772.1:c.287C>T, NM_001300770.2:c.353C>T, NM_001300770.1:c.353C>T, NM_001300769.2:c.248C>T, NM_001300769.1:c.248C>T, XR_007078557.1:n.441C>T, XM_047445134.1:c.401C>T, XM_047445138.1:c.353C>T, XR_007078558.1:n.441C>T, XR_007078563.1:n.414C>T, XR_007078566.1:n.414C>T, XR_007078569.1:n.366C>T, XR_007078556.1:n.441C>T, XR_007078567.1:n.366C>T, XR_007078559.1:n.414C>T, XR_007078564.1:n.414C>T, XR_007078555.1:n.441C>T, XR_007078561.1:n.414C>T, XR_007078568.1:n.366C>T, XR_007078560.1:n.414C>T, XR_007078562.1:n.414C>T, XR_007078565.1:n.414C>T, NP_620149.2:p.Ala134Val, XP_016855760.1:p.Ala143Val, NP_001287700.1:p.Ala96Val, NP_001337557.1:p.Ala143Val, NP_001337558.1:p.Ala127Val, NP_001287701.1:p.Ala96Val, NP_001287699.1:p.Ala118Val, NP_001287698.1:p.Ala83Val, XP_047301090.1:p.Ala134Val, XP_047301094.1:p.Ala118Val

                                    18.

                                    rs1446255509 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      1:219173942 (GRCh38)
                                      1:219347284 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:219173941:GGG:GG
                                      Gene:
                                      LYPLAL1 (Varview), LYPLAL1-DT (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      GG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.219173944del, NC_000001.10:g.219347286del, NM_138794.5:c.54del, NM_138794.4:c.54del, NM_138794.3:c.54del, XR_001736964.3:n.67del, XR_001736964.2:n.67del, XR_001736964.1:n.98del, XM_017000271.3:c.54del, XM_017000271.2:c.54del, XM_017000271.1:c.54del, XR_001736968.3:n.67del, XR_001736968.2:n.67del, XR_001736968.1:n.98del, XR_001736965.3:n.67del, XR_001736965.2:n.67del, XR_001736965.1:n.98del, XR_001736967.3:n.67del, XR_001736967.2:n.95del, XR_001736967.1:n.97del, NM_001300771.2:c.-384del, NM_001350628.2:c.54del, NM_001350628.1:c.54del, NM_001350629.2:c.54del, NM_001350629.1:c.54del, NM_001300770.2:c.54del, NM_001300770.1:c.54del, NM_001300769.2:c.54del, NM_001300769.1:c.54del, XR_007078557.1:n.67del, XM_047445134.1:c.54del, XM_047445138.1:c.54del, XR_007078558.1:n.67del, XR_007078563.1:n.67del, XR_007078566.1:n.67del, XR_007078569.1:n.67del, XR_007078556.1:n.67del, XR_007078567.1:n.67del, XR_007078559.1:n.67del, XR_007078564.1:n.67del, XR_007078555.1:n.67del, XR_007078561.1:n.67del, XR_007078568.1:n.67del, XR_007078560.1:n.67del, XR_007078562.1:n.67del, XR_007078565.1:n.67del, NP_620149.2:p.Arg19fs, XP_016855760.1:p.Arg19fs, NP_001337557.1:p.Arg19fs, NP_001337558.1:p.Arg19fs, NP_001287699.1:p.Arg19fs, NP_001287698.1:p.Arg19fs, XP_047301090.1:p.Arg19fs, XP_047301094.1:p.Arg19fs

                                      19.

                                      rs1445910512 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:219173979 (GRCh38)
                                        1:219347321 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:219173978:C:G
                                        Gene:
                                        LYPLAL1 (Varview), LYPLAL1-DT (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,2KB_upstream_variant,stop_gained,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.219173979C>G, NC_000001.10:g.219347321C>G, NM_138794.5:c.89C>G, NM_138794.4:c.89C>G, NM_138794.3:c.89C>G, XR_001736964.3:n.102C>G, XR_001736964.2:n.102C>G, XR_001736964.1:n.133C>G, XM_017000271.3:c.89C>G, XM_017000271.2:c.89C>G, XM_017000271.1:c.89C>G, XR_001736968.3:n.102C>G, XR_001736968.2:n.102C>G, XR_001736968.1:n.133C>G, XR_001736965.3:n.102C>G, XR_001736965.2:n.102C>G, XR_001736965.1:n.133C>G, XR_001736967.3:n.102C>G, XR_001736967.2:n.130C>G, XR_001736967.1:n.132C>G, NM_001300771.2:c.-349C>G, NM_001350628.2:c.89C>G, NM_001350628.1:c.89C>G, NM_001350629.2:c.89C>G, NM_001350629.1:c.89C>G, NM_001300770.2:c.89C>G, NM_001300770.1:c.89C>G, NM_001300769.2:c.89C>G, NM_001300769.1:c.89C>G, XR_007078557.1:n.102C>G, XM_047445134.1:c.89C>G, XM_047445138.1:c.89C>G, XR_007078558.1:n.102C>G, XR_007078563.1:n.102C>G, XR_007078566.1:n.102C>G, XR_007078569.1:n.102C>G, XR_007078556.1:n.102C>G, XR_007078567.1:n.102C>G, XR_007078559.1:n.102C>G, XR_007078564.1:n.102C>G, XR_007078555.1:n.102C>G, XR_007078561.1:n.102C>G, XR_007078568.1:n.102C>G, XR_007078560.1:n.102C>G, XR_007078562.1:n.102C>G, XR_007078565.1:n.102C>G, NP_620149.2:p.Ser30Ter, XP_016855760.1:p.Ser30Ter, NP_001337557.1:p.Ser30Ter, NP_001337558.1:p.Ser30Ter, NP_001287699.1:p.Ser30Ter, NP_001287698.1:p.Ser30Ter, XP_047301090.1:p.Ser30Ter, XP_047301094.1:p.Ser30Ter

                                        20.

                                        rs1441053233 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          1:219193182 (GRCh38)
                                          1:219366524 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:219193181:T:G
                                          Gene:
                                          LYPLAL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.219193182T>G, NC_000001.10:g.219366524T>G, NM_138794.5:c.292T>G, NM_138794.4:c.292T>G, NM_138794.3:c.292T>G, XR_001736964.3:n.332T>G, XR_001736964.2:n.332T>G, XR_001736964.1:n.363T>G, XM_017000271.3:c.319T>G, XM_017000271.2:c.319T>G, XM_017000271.1:c.319T>G, XR_001736968.3:n.257T>G, XR_001736968.2:n.257T>G, XR_001736968.1:n.288T>G, XR_001736965.3:n.332T>G, XR_001736965.2:n.332T>G, XR_001736965.1:n.363T>G, XR_001736967.3:n.305T>G, XR_001736967.2:n.333T>G, XR_001736967.1:n.335T>G, NM_001300771.2:c.178T>G, NM_001300771.1:c.178T>G, NM_001350628.2:c.319T>G, NM_001350628.1:c.319T>G, NM_001350629.2:c.271T>G, NM_001350629.1:c.271T>G, NM_001300772.2:c.178T>G, NM_001300772.1:c.178T>G, NM_001300770.2:c.244T>G, NM_001300770.1:c.244T>G, XR_007078557.1:n.332T>G, XM_047445134.1:c.292T>G, XM_047445138.1:c.244T>G, XR_007078558.1:n.332T>G, XR_007078563.1:n.305T>G, XR_007078566.1:n.305T>G, XR_007078569.1:n.257T>G, XR_007078556.1:n.332T>G, XR_007078567.1:n.257T>G, XR_007078559.1:n.305T>G, XR_007078564.1:n.305T>G, XR_007078555.1:n.332T>G, XR_007078561.1:n.305T>G, XR_007078568.1:n.257T>G, XR_007078560.1:n.305T>G, XR_007078562.1:n.305T>G, XR_007078565.1:n.305T>G, NP_620149.2:p.Cys98Gly, XP_016855760.1:p.Cys107Gly, NP_001287700.1:p.Cys60Gly, NP_001337557.1:p.Cys107Gly, NP_001337558.1:p.Cys91Gly, NP_001287701.1:p.Cys60Gly, NP_001287699.1:p.Cys82Gly, XP_047301090.1:p.Cys98Gly, XP_047301094.1:p.Cys82Gly

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