U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 546

1.

rs1490765692 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:188524672 (GRCh38)
    3:188242460 (GRCh37)
    Canonical SPDI:
    NC_000003.12:188524671:C:T
    Gene:
    LPP (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.188524672C>T, NC_000003.11:g.188242460C>T, NG_016932.2:g.375798C>T, NM_005578.5:c.314C>T, NM_005578.4:c.314C>T, NM_005578.3:c.314C>T, NM_001167671.3:c.314C>T, NM_001167671.2:c.314C>T, NM_001167671.1:c.314C>T, NM_001167672.3:c.314C>T, NM_001167672.2:c.314C>T, NM_001167672.1:c.314C>T, NM_001375457.1:c.314C>T, NM_001387667.1:c.314C>T, NM_001375455.1:c.314C>T, NM_001375456.1:c.314C>T, NM_001387665.1:c.314C>T, NM_001387674.1:c.314C>T, NM_001375460.1:c.314C>T, NM_001387672.1:c.314C>T, NM_001375461.1:c.314C>T, NM_001387664.1:c.314C>T, NM_001387666.1:c.314C>T, NM_001375458.1:c.314C>T, NM_001387671.1:c.314C>T, NM_001387669.1:c.314C>T, NM_001375464.1:c.314C>T, NM_001375462.1:c.314C>T, NM_001375459.1:c.314C>T, NM_001375463.1:c.314C>T, NM_001387673.1:c.314C>T, NR_164692.1:n.570C>T, NM_001375465.1:c.314C>T, NM_001387668.1:c.314C>T, NM_001387663.1:c.314C>T, NM_001387670.1:c.314C>T, NM_001387678.1:c.314C>T, NM_001387682.1:c.314C>T, NM_001387681.1:c.314C>T, NM_001387680.1:c.314C>T, NM_001387677.1:c.314C>T, NM_001387683.1:c.314C>T, NM_001387679.1:c.314C>T, XM_011512823.3:c.389C>T, XM_011512823.2:c.389C>T, XM_011512823.1:c.389C>T, XM_017006378.2:c.314C>T, XM_017006378.1:c.314C>T, XM_047448100.1:c.374C>T, XM_047448103.1:c.314C>T, XM_047448115.1:c.314C>T, XM_047448105.1:c.314C>T, XM_047448109.1:c.314C>T, XM_047448102.1:c.314C>T, XM_047448101.1:c.314C>T, XM_047448104.1:c.314C>T, XM_047448108.1:c.314C>T, XM_047448106.1:c.314C>T, XM_047448097.1:c.506C>T, XM_047448114.1:c.314C>T, XM_047448110.1:c.314C>T, XM_047448113.1:c.314C>T, XM_047448112.1:c.314C>T, XM_047448111.1:c.314C>T, XM_047448099.1:c.383C>T, XM_047448107.1:c.314C>T, XM_047448098.1:c.449C>T, XM_047448116.1:c.314C>T, XM_017006381.1:c.314C>T, NP_005569.1:p.Pro105Leu, NP_001161143.1:p.Pro105Leu, NP_001161144.1:p.Pro105Leu, NP_001362386.1:p.Pro105Leu, NP_001374596.1:p.Pro105Leu, NP_001362384.1:p.Pro105Leu, NP_001362385.1:p.Pro105Leu, NP_001374594.1:p.Pro105Leu, NP_001374603.1:p.Pro105Leu, NP_001362389.1:p.Pro105Leu, NP_001374601.1:p.Pro105Leu, NP_001362390.1:p.Pro105Leu, NP_001374593.1:p.Pro105Leu, NP_001374595.1:p.Pro105Leu, NP_001362387.1:p.Pro105Leu, NP_001374600.1:p.Pro105Leu, NP_001374598.1:p.Pro105Leu, NP_001362393.1:p.Pro105Leu, NP_001362391.1:p.Pro105Leu, NP_001362388.1:p.Pro105Leu, NP_001362392.1:p.Pro105Leu, NP_001374602.1:p.Pro105Leu, NP_001362394.1:p.Pro105Leu, NP_001374597.1:p.Pro105Leu, NP_001374592.1:p.Pro105Leu, NP_001374599.1:p.Pro105Leu, NP_001374607.1:p.Pro105Leu, NP_001374611.1:p.Pro105Leu, NP_001374610.1:p.Pro105Leu, NP_001374609.1:p.Pro105Leu, NP_001374606.1:p.Pro105Leu, NP_001374612.1:p.Pro105Leu, NP_001374608.1:p.Pro105Leu, XP_011511125.1:p.Pro130Leu, XP_016861867.1:p.Pro105Leu, XP_047304056.1:p.Pro125Leu, XP_047304059.1:p.Pro105Leu, XP_047304071.1:p.Pro105Leu, XP_047304061.1:p.Pro105Leu, XP_047304065.1:p.Pro105Leu, XP_047304058.1:p.Pro105Leu, XP_047304057.1:p.Pro105Leu, XP_047304060.1:p.Pro105Leu, XP_047304064.1:p.Pro105Leu, XP_047304062.1:p.Pro105Leu, XP_047304053.1:p.Pro169Leu, XP_047304070.1:p.Pro105Leu, XP_047304066.1:p.Pro105Leu, XP_047304069.1:p.Pro105Leu, XP_047304068.1:p.Pro105Leu, XP_047304067.1:p.Pro105Leu, XP_047304055.1:p.Pro128Leu, XP_047304063.1:p.Pro105Leu, XP_047304054.1:p.Pro150Leu, XP_047304072.1:p.Pro105Leu, XP_016861870.1:p.Pro105Leu

    2.

    rs1485836552 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:188406284 (GRCh38)
      3:188124072 (GRCh37)
      Canonical SPDI:
      NC_000003.12:188406283:A:G
      Gene:
      LPP (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.188406284A>G, NC_000003.11:g.188124072A>G, NG_016932.2:g.257410A>G, NM_005578.5:c.164A>G, NM_005578.4:c.164A>G, NM_005578.3:c.164A>G, NM_001167671.3:c.164A>G, NM_001167671.2:c.164A>G, NM_001167671.1:c.164A>G, NM_001167672.3:c.164A>G, NM_001167672.2:c.164A>G, NM_001167672.1:c.164A>G, NM_001375457.1:c.164A>G, NM_001387667.1:c.164A>G, NM_001375455.1:c.164A>G, NM_001375456.1:c.164A>G, NM_001387665.1:c.164A>G, NM_001387674.1:c.164A>G, NM_001375460.1:c.164A>G, NM_001387672.1:c.164A>G, NM_001375461.1:c.164A>G, NM_001387664.1:c.164A>G, NM_001387666.1:c.164A>G, NM_001375458.1:c.164A>G, NM_001387671.1:c.164A>G, NM_001387669.1:c.164A>G, NM_001375464.1:c.164A>G, NM_001375462.1:c.164A>G, NM_001375459.1:c.164A>G, NM_001375463.1:c.164A>G, NM_001387673.1:c.164A>G, NR_164692.1:n.420A>G, NM_001375465.1:c.164A>G, NM_001387668.1:c.164A>G, NM_001387663.1:c.164A>G, NM_001387670.1:c.164A>G, NM_001387678.1:c.164A>G, NM_001387682.1:c.164A>G, NM_001387681.1:c.164A>G, NM_001387680.1:c.164A>G, NM_001387677.1:c.164A>G, NM_001387683.1:c.164A>G, NM_001387679.1:c.164A>G, XM_011512823.3:c.239A>G, XM_011512823.2:c.239A>G, XM_011512823.1:c.239A>G, XM_017006378.2:c.164A>G, XM_017006378.1:c.164A>G, XM_047448100.1:c.224A>G, XM_047448103.1:c.164A>G, XM_047448115.1:c.164A>G, XM_047448105.1:c.164A>G, XM_047448109.1:c.164A>G, XM_047448102.1:c.164A>G, XM_047448101.1:c.164A>G, XM_047448104.1:c.164A>G, XM_047448108.1:c.164A>G, XM_047448106.1:c.164A>G, XM_047448097.1:c.356A>G, XM_047448114.1:c.164A>G, XM_047448110.1:c.164A>G, XM_047448113.1:c.164A>G, XM_047448112.1:c.164A>G, XM_047448111.1:c.164A>G, XM_047448099.1:c.233A>G, XM_047448107.1:c.164A>G, XM_047448098.1:c.299A>G, XM_047448116.1:c.164A>G, XM_017006381.1:c.164A>G, NP_005569.1:p.Tyr55Cys, NP_001161143.1:p.Tyr55Cys, NP_001161144.1:p.Tyr55Cys, NP_001362386.1:p.Tyr55Cys, NP_001374596.1:p.Tyr55Cys, NP_001362384.1:p.Tyr55Cys, NP_001362385.1:p.Tyr55Cys, NP_001374594.1:p.Tyr55Cys, NP_001374603.1:p.Tyr55Cys, NP_001362389.1:p.Tyr55Cys, NP_001374601.1:p.Tyr55Cys, NP_001362390.1:p.Tyr55Cys, NP_001374593.1:p.Tyr55Cys, NP_001374595.1:p.Tyr55Cys, NP_001362387.1:p.Tyr55Cys, NP_001374600.1:p.Tyr55Cys, NP_001374598.1:p.Tyr55Cys, NP_001362393.1:p.Tyr55Cys, NP_001362391.1:p.Tyr55Cys, NP_001362388.1:p.Tyr55Cys, NP_001362392.1:p.Tyr55Cys, NP_001374602.1:p.Tyr55Cys, NP_001362394.1:p.Tyr55Cys, NP_001374597.1:p.Tyr55Cys, NP_001374592.1:p.Tyr55Cys, NP_001374599.1:p.Tyr55Cys, NP_001374607.1:p.Tyr55Cys, NP_001374611.1:p.Tyr55Cys, NP_001374610.1:p.Tyr55Cys, NP_001374609.1:p.Tyr55Cys, NP_001374606.1:p.Tyr55Cys, NP_001374612.1:p.Tyr55Cys, NP_001374608.1:p.Tyr55Cys, XP_011511125.1:p.Tyr80Cys, XP_016861867.1:p.Tyr55Cys, XP_047304056.1:p.Tyr75Cys, XP_047304059.1:p.Tyr55Cys, XP_047304071.1:p.Tyr55Cys, XP_047304061.1:p.Tyr55Cys, XP_047304065.1:p.Tyr55Cys, XP_047304058.1:p.Tyr55Cys, XP_047304057.1:p.Tyr55Cys, XP_047304060.1:p.Tyr55Cys, XP_047304064.1:p.Tyr55Cys, XP_047304062.1:p.Tyr55Cys, XP_047304053.1:p.Tyr119Cys, XP_047304070.1:p.Tyr55Cys, XP_047304066.1:p.Tyr55Cys, XP_047304069.1:p.Tyr55Cys, XP_047304068.1:p.Tyr55Cys, XP_047304067.1:p.Tyr55Cys, XP_047304055.1:p.Tyr78Cys, XP_047304063.1:p.Tyr55Cys, XP_047304054.1:p.Tyr100Cys, XP_047304072.1:p.Tyr55Cys, XP_016861870.1:p.Tyr55Cys

      3.

      rs1482967249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        3:188524759 (GRCh38)
        3:188242547 (GRCh37)
        Canonical SPDI:
        NC_000003.12:188524758:G:T
        Gene:
        LPP (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000003.12:g.188524759G>T, NC_000003.11:g.188242547G>T, NG_016932.2:g.375885G>T, NM_005578.5:c.401G>T, NM_005578.4:c.401G>T, NM_005578.3:c.401G>T, NM_001167671.3:c.401G>T, NM_001167671.2:c.401G>T, NM_001167671.1:c.401G>T, NM_001167672.3:c.401G>T, NM_001167672.2:c.401G>T, NM_001167672.1:c.401G>T, NM_001375457.1:c.401G>T, NM_001387667.1:c.401G>T, NM_001375455.1:c.401G>T, NM_001375456.1:c.401G>T, NM_001387665.1:c.401G>T, NM_001387674.1:c.401G>T, NM_001375460.1:c.401G>T, NM_001387672.1:c.401G>T, NM_001375461.1:c.401G>T, NM_001387664.1:c.401G>T, NM_001387666.1:c.401G>T, NM_001375458.1:c.401G>T, NM_001387671.1:c.401G>T, NM_001387669.1:c.401G>T, NM_001375464.1:c.401G>T, NM_001375462.1:c.401G>T, NM_001375459.1:c.401G>T, NM_001375463.1:c.401G>T, NM_001387673.1:c.401G>T, NR_164692.1:n.657G>T, NM_001375465.1:c.401G>T, NM_001387668.1:c.401G>T, NM_001387663.1:c.401G>T, NM_001387670.1:c.401G>T, NM_001387678.1:c.401G>T, NM_001387682.1:c.401G>T, NM_001387681.1:c.401G>T, NM_001387680.1:c.401G>T, NM_001387677.1:c.401G>T, NM_001387683.1:c.401G>T, NM_001387679.1:c.401G>T, XM_011512823.3:c.476G>T, XM_011512823.2:c.476G>T, XM_011512823.1:c.476G>T, XM_017006378.2:c.401G>T, XM_017006378.1:c.401G>T, XM_047448100.1:c.461G>T, XM_047448103.1:c.401G>T, XM_047448115.1:c.401G>T, XM_047448105.1:c.401G>T, XM_047448109.1:c.401G>T, XM_047448102.1:c.401G>T, XM_047448101.1:c.401G>T, XM_047448104.1:c.401G>T, XM_047448108.1:c.401G>T, XM_047448106.1:c.401G>T, XM_047448097.1:c.593G>T, XM_047448114.1:c.401G>T, XM_047448110.1:c.401G>T, XM_047448113.1:c.401G>T, XM_047448112.1:c.401G>T, XM_047448111.1:c.401G>T, XM_047448099.1:c.470G>T, XM_047448107.1:c.401G>T, XM_047448098.1:c.536G>T, XM_047448116.1:c.401G>T, XM_017006381.1:c.401G>T, NP_005569.1:p.Ser134Ile, NP_001161143.1:p.Ser134Ile, NP_001161144.1:p.Ser134Ile, NP_001362386.1:p.Ser134Ile, NP_001374596.1:p.Ser134Ile, NP_001362384.1:p.Ser134Ile, NP_001362385.1:p.Ser134Ile, NP_001374594.1:p.Ser134Ile, NP_001374603.1:p.Ser134Ile, NP_001362389.1:p.Ser134Ile, NP_001374601.1:p.Ser134Ile, NP_001362390.1:p.Ser134Ile, NP_001374593.1:p.Ser134Ile, NP_001374595.1:p.Ser134Ile, NP_001362387.1:p.Ser134Ile, NP_001374600.1:p.Ser134Ile, NP_001374598.1:p.Ser134Ile, NP_001362393.1:p.Ser134Ile, NP_001362391.1:p.Ser134Ile, NP_001362388.1:p.Ser134Ile, NP_001362392.1:p.Ser134Ile, NP_001374602.1:p.Ser134Ile, NP_001362394.1:p.Ser134Ile, NP_001374597.1:p.Ser134Ile, NP_001374592.1:p.Ser134Ile, NP_001374599.1:p.Ser134Ile, NP_001374607.1:p.Ser134Ile, NP_001374611.1:p.Ser134Ile, NP_001374610.1:p.Ser134Ile, NP_001374609.1:p.Ser134Ile, NP_001374606.1:p.Ser134Ile, NP_001374612.1:p.Ser134Ile, NP_001374608.1:p.Ser134Ile, XP_011511125.1:p.Ser159Ile, XP_016861867.1:p.Ser134Ile, XP_047304056.1:p.Ser154Ile, XP_047304059.1:p.Ser134Ile, XP_047304071.1:p.Ser134Ile, XP_047304061.1:p.Ser134Ile, XP_047304065.1:p.Ser134Ile, XP_047304058.1:p.Ser134Ile, XP_047304057.1:p.Ser134Ile, XP_047304060.1:p.Ser134Ile, XP_047304064.1:p.Ser134Ile, XP_047304062.1:p.Ser134Ile, XP_047304053.1:p.Ser198Ile, XP_047304070.1:p.Ser134Ile, XP_047304066.1:p.Ser134Ile, XP_047304069.1:p.Ser134Ile, XP_047304068.1:p.Ser134Ile, XP_047304067.1:p.Ser134Ile, XP_047304055.1:p.Ser157Ile, XP_047304063.1:p.Ser134Ile, XP_047304054.1:p.Ser179Ile, XP_047304072.1:p.Ser134Ile, XP_016861870.1:p.Ser134Ile

        4.

        rs1482878858 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:188406310 (GRCh38)
          3:188124098 (GRCh37)
          Canonical SPDI:
          NC_000003.12:188406309:G:A
          Gene:
          LPP (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.188406310G>A, NC_000003.11:g.188124098G>A, NG_016932.2:g.257436G>A, NM_005578.5:c.190G>A, NM_005578.4:c.190G>A, NM_005578.3:c.190G>A, NM_001167671.3:c.190G>A, NM_001167671.2:c.190G>A, NM_001167671.1:c.190G>A, NM_001167672.3:c.190G>A, NM_001167672.2:c.190G>A, NM_001167672.1:c.190G>A, NM_001375457.1:c.190G>A, NM_001387667.1:c.190G>A, NM_001375455.1:c.190G>A, NM_001375456.1:c.190G>A, NM_001387665.1:c.190G>A, NM_001387674.1:c.190G>A, NM_001375460.1:c.190G>A, NM_001387672.1:c.190G>A, NM_001375461.1:c.190G>A, NM_001387664.1:c.190G>A, NM_001387666.1:c.190G>A, NM_001375458.1:c.190G>A, NM_001387671.1:c.190G>A, NM_001387669.1:c.190G>A, NM_001375464.1:c.190G>A, NM_001375462.1:c.190G>A, NM_001375459.1:c.190G>A, NM_001375463.1:c.190G>A, NM_001387673.1:c.190G>A, NR_164692.1:n.446G>A, NM_001375465.1:c.190G>A, NM_001387668.1:c.190G>A, NM_001387663.1:c.190G>A, NM_001387670.1:c.190G>A, NM_001387678.1:c.190G>A, NM_001387682.1:c.190G>A, NM_001387681.1:c.190G>A, NM_001387680.1:c.190G>A, NM_001387677.1:c.190G>A, NM_001387683.1:c.190G>A, NM_001387679.1:c.190G>A, XM_011512823.3:c.265G>A, XM_011512823.2:c.265G>A, XM_011512823.1:c.265G>A, XM_017006378.2:c.190G>A, XM_017006378.1:c.190G>A, XM_047448100.1:c.250G>A, XM_047448103.1:c.190G>A, XM_047448115.1:c.190G>A, XM_047448105.1:c.190G>A, XM_047448109.1:c.190G>A, XM_047448102.1:c.190G>A, XM_047448101.1:c.190G>A, XM_047448104.1:c.190G>A, XM_047448108.1:c.190G>A, XM_047448106.1:c.190G>A, XM_047448097.1:c.382G>A, XM_047448114.1:c.190G>A, XM_047448110.1:c.190G>A, XM_047448113.1:c.190G>A, XM_047448112.1:c.190G>A, XM_047448111.1:c.190G>A, XM_047448099.1:c.259G>A, XM_047448107.1:c.190G>A, XM_047448098.1:c.325G>A, XM_047448116.1:c.190G>A, XM_017006381.1:c.190G>A, NP_005569.1:p.Glu64Lys, NP_001161143.1:p.Glu64Lys, NP_001161144.1:p.Glu64Lys, NP_001362386.1:p.Glu64Lys, NP_001374596.1:p.Glu64Lys, NP_001362384.1:p.Glu64Lys, NP_001362385.1:p.Glu64Lys, NP_001374594.1:p.Glu64Lys, NP_001374603.1:p.Glu64Lys, NP_001362389.1:p.Glu64Lys, NP_001374601.1:p.Glu64Lys, NP_001362390.1:p.Glu64Lys, NP_001374593.1:p.Glu64Lys, NP_001374595.1:p.Glu64Lys, NP_001362387.1:p.Glu64Lys, NP_001374600.1:p.Glu64Lys, NP_001374598.1:p.Glu64Lys, NP_001362393.1:p.Glu64Lys, NP_001362391.1:p.Glu64Lys, NP_001362388.1:p.Glu64Lys, NP_001362392.1:p.Glu64Lys, NP_001374602.1:p.Glu64Lys, NP_001362394.1:p.Glu64Lys, NP_001374597.1:p.Glu64Lys, NP_001374592.1:p.Glu64Lys, NP_001374599.1:p.Glu64Lys, NP_001374607.1:p.Glu64Lys, NP_001374611.1:p.Glu64Lys, NP_001374610.1:p.Glu64Lys, NP_001374609.1:p.Glu64Lys, NP_001374606.1:p.Glu64Lys, NP_001374612.1:p.Glu64Lys, NP_001374608.1:p.Glu64Lys, XP_011511125.1:p.Glu89Lys, XP_016861867.1:p.Glu64Lys, XP_047304056.1:p.Glu84Lys, XP_047304059.1:p.Glu64Lys, XP_047304071.1:p.Glu64Lys, XP_047304061.1:p.Glu64Lys, XP_047304065.1:p.Glu64Lys, XP_047304058.1:p.Glu64Lys, XP_047304057.1:p.Glu64Lys, XP_047304060.1:p.Glu64Lys, XP_047304064.1:p.Glu64Lys, XP_047304062.1:p.Glu64Lys, XP_047304053.1:p.Glu128Lys, XP_047304070.1:p.Glu64Lys, XP_047304066.1:p.Glu64Lys, XP_047304069.1:p.Glu64Lys, XP_047304068.1:p.Glu64Lys, XP_047304067.1:p.Glu64Lys, XP_047304055.1:p.Glu87Lys, XP_047304063.1:p.Glu64Lys, XP_047304054.1:p.Glu109Lys, XP_047304072.1:p.Glu64Lys, XP_016861870.1:p.Glu64Lys

          5.

          rs1481164883 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:188609393 (GRCh38)
            3:188327181 (GRCh37)
            Canonical SPDI:
            NC_000003.12:188609392:T:C
            Gene:
            LPP (Varview), LOC124906316 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.188609393T>C, NC_000003.11:g.188327181T>C, NG_016932.2:g.460519T>C, NM_005578.5:c.662T>C, NM_005578.4:c.662T>C, NM_005578.3:c.662T>C, NM_001167671.3:c.662T>C, NM_001167671.2:c.662T>C, NM_001167671.1:c.662T>C, NM_001167672.3:c.662T>C, NM_001167672.2:c.662T>C, NM_001167672.1:c.662T>C, NM_001375457.1:c.662T>C, NM_001387667.1:c.662T>C, NM_001375455.1:c.662T>C, NM_001375456.1:c.662T>C, NM_001387665.1:c.662T>C, NM_001387674.1:c.662T>C, NM_001375460.1:c.662T>C, NM_001387672.1:c.662T>C, NM_001375461.1:c.662T>C, NM_001387664.1:c.662T>C, NM_001387666.1:c.662T>C, NM_001375458.1:c.662T>C, NM_001387671.1:c.662T>C, NM_001387669.1:c.662T>C, NM_001375464.1:c.662T>C, NM_001375462.1:c.662T>C, NM_001375459.1:c.662T>C, NM_001375463.1:c.662T>C, NM_001387673.1:c.662T>C, NR_164692.1:n.918T>C, NM_001375465.1:c.662T>C, NM_001387668.1:c.662T>C, NM_001387663.1:c.662T>C, NM_001387670.1:c.662T>C, NM_001387675.1:c.173T>C, NM_001387676.1:c.173T>C, NM_001387678.1:c.662T>C, NM_001387682.1:c.662T>C, NM_001387681.1:c.662T>C, NM_001387680.1:c.662T>C, NM_001387677.1:c.662T>C, NM_001387683.1:c.662T>C, NM_001387679.1:c.662T>C, XM_011512823.3:c.737T>C, XM_011512823.2:c.737T>C, XM_011512823.1:c.737T>C, XM_017006378.2:c.662T>C, XM_017006378.1:c.662T>C, XM_047448100.1:c.722T>C, XM_047448103.1:c.662T>C, XM_047448115.1:c.662T>C, XM_047448105.1:c.662T>C, XM_047448109.1:c.662T>C, XM_047448102.1:c.662T>C, XM_047448101.1:c.662T>C, XM_047448104.1:c.662T>C, XM_047448108.1:c.662T>C, XM_047448106.1:c.662T>C, XM_047448097.1:c.854T>C, XM_047448114.1:c.662T>C, XM_047448110.1:c.662T>C, XM_047448113.1:c.662T>C, XM_047448112.1:c.662T>C, XM_047448111.1:c.662T>C, XM_047448099.1:c.731T>C, XM_047448107.1:c.662T>C, XM_047448098.1:c.797T>C, XM_047448116.1:c.662T>C, XM_017006381.1:c.662T>C, NP_005569.1:p.Phe221Ser, NP_001161143.1:p.Phe221Ser, NP_001161144.1:p.Phe221Ser, NP_001362386.1:p.Phe221Ser, NP_001374596.1:p.Phe221Ser, NP_001362384.1:p.Phe221Ser, NP_001362385.1:p.Phe221Ser, NP_001374594.1:p.Phe221Ser, NP_001374603.1:p.Phe221Ser, NP_001362389.1:p.Phe221Ser, NP_001374601.1:p.Phe221Ser, NP_001362390.1:p.Phe221Ser, NP_001374593.1:p.Phe221Ser, NP_001374595.1:p.Phe221Ser, NP_001362387.1:p.Phe221Ser, NP_001374600.1:p.Phe221Ser, NP_001374598.1:p.Phe221Ser, NP_001362393.1:p.Phe221Ser, NP_001362391.1:p.Phe221Ser, NP_001362388.1:p.Phe221Ser, NP_001362392.1:p.Phe221Ser, NP_001374602.1:p.Phe221Ser, NP_001362394.1:p.Phe221Ser, NP_001374597.1:p.Phe221Ser, NP_001374592.1:p.Phe221Ser, NP_001374599.1:p.Phe221Ser, NP_001374604.1:p.Phe58Ser, NP_001374605.1:p.Phe58Ser, NP_001374607.1:p.Phe221Ser, NP_001374611.1:p.Phe221Ser, NP_001374610.1:p.Phe221Ser, NP_001374609.1:p.Phe221Ser, NP_001374606.1:p.Phe221Ser, NP_001374612.1:p.Phe221Ser, NP_001374608.1:p.Phe221Ser, XP_011511125.1:p.Phe246Ser, XP_016861867.1:p.Phe221Ser, XP_047304056.1:p.Phe241Ser, XP_047304059.1:p.Phe221Ser, XP_047304071.1:p.Phe221Ser, XP_047304061.1:p.Phe221Ser, XP_047304065.1:p.Phe221Ser, XP_047304058.1:p.Phe221Ser, XP_047304057.1:p.Phe221Ser, XP_047304060.1:p.Phe221Ser, XP_047304064.1:p.Phe221Ser, XP_047304062.1:p.Phe221Ser, XP_047304053.1:p.Phe285Ser, XP_047304070.1:p.Phe221Ser, XP_047304066.1:p.Phe221Ser, XP_047304069.1:p.Phe221Ser, XP_047304068.1:p.Phe221Ser, XP_047304067.1:p.Phe221Ser, XP_047304055.1:p.Phe244Ser, XP_047304063.1:p.Phe221Ser, XP_047304054.1:p.Phe266Ser, XP_047304072.1:p.Phe221Ser, XP_016861870.1:p.Phe221Ser

            6.

            rs1480836536 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:188609607 (GRCh38)
              3:188327395 (GRCh37)
              Canonical SPDI:
              NC_000003.12:188609606:C:T
              Gene:
              LPP (Varview), LOC124906316 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              T=0.000342/1 (KOREAN)
              HGVS:
              NC_000003.12:g.188609607C>T, NC_000003.11:g.188327395C>T, NG_016932.2:g.460733C>T, NM_005578.5:c.876C>T, NM_005578.4:c.876C>T, NM_005578.3:c.876C>T, NM_001167671.3:c.876C>T, NM_001167671.2:c.876C>T, NM_001167671.1:c.876C>T, NM_001375457.1:c.876C>T, NM_001387667.1:c.876C>T, NM_001375455.1:c.876C>T, NM_001375456.1:c.876C>T, NM_001387665.1:c.876C>T, NM_001387674.1:c.876C>T, NM_001375460.1:c.876C>T, NM_001387672.1:c.876C>T, NM_001375461.1:c.876C>T, NM_001387664.1:c.876C>T, NM_001387666.1:c.876C>T, NM_001375458.1:c.876C>T, NM_001387671.1:c.876C>T, NM_001387669.1:c.876C>T, NM_001375464.1:c.876C>T, NM_001375462.1:c.876C>T, NM_001375459.1:c.876C>T, NM_001375463.1:c.876C>T, NM_001387673.1:c.876C>T, NR_164692.1:n.1132C>T, NM_001375465.1:c.876C>T, NM_001387668.1:c.876C>T, NM_001387663.1:c.876C>T, NM_001387670.1:c.876C>T, NM_001387675.1:c.387C>T, NM_001387676.1:c.387C>T, NM_001387678.1:c.876C>T, NM_001387682.1:c.876C>T, NM_001387681.1:c.876C>T, NM_001387680.1:c.876C>T, NM_001387677.1:c.876C>T, NM_001387683.1:c.876C>T, NM_001387679.1:c.876C>T, XM_011512823.3:c.951C>T, XM_011512823.2:c.951C>T, XM_011512823.1:c.951C>T, XM_017006378.2:c.876C>T, XM_017006378.1:c.876C>T, XM_047448100.1:c.936C>T, XM_047448103.1:c.876C>T, XM_047448115.1:c.876C>T, XM_047448105.1:c.876C>T, XM_047448109.1:c.876C>T, XM_047448102.1:c.876C>T, XM_047448101.1:c.876C>T, XM_047448104.1:c.876C>T, XM_047448108.1:c.876C>T, XM_047448106.1:c.876C>T, XM_047448097.1:c.1068C>T, XM_047448114.1:c.876C>T, XM_047448110.1:c.876C>T, XM_047448113.1:c.876C>T, XM_047448112.1:c.876C>T, XM_047448111.1:c.876C>T, XM_047448099.1:c.945C>T, XM_047448107.1:c.876C>T, XM_047448098.1:c.1011C>T, XM_047448116.1:c.876C>T, XM_017006381.1:c.876C>T

              7.

              rs1480649345 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                3:188609453 (GRCh38)
                3:188327241 (GRCh37)
                Canonical SPDI:
                NC_000003.12:188609452:G:A,NC_000003.12:188609452:G:C
                Gene:
                LPP (Varview), LOC124906316 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000003.12:g.188609453G>A, NC_000003.12:g.188609453G>C, NC_000003.11:g.188327241G>A, NC_000003.11:g.188327241G>C, NG_016932.2:g.460579G>A, NG_016932.2:g.460579G>C, NM_005578.5:c.722G>A, NM_005578.5:c.722G>C, NM_005578.4:c.722G>A, NM_005578.4:c.722G>C, NM_005578.3:c.722G>A, NM_005578.3:c.722G>C, NM_001167671.3:c.722G>A, NM_001167671.3:c.722G>C, NM_001167671.2:c.722G>A, NM_001167671.2:c.722G>C, NM_001167671.1:c.722G>A, NM_001167671.1:c.722G>C, NM_001375457.1:c.722G>A, NM_001375457.1:c.722G>C, NM_001387667.1:c.722G>A, NM_001387667.1:c.722G>C, NM_001375455.1:c.722G>A, NM_001375455.1:c.722G>C, NM_001375456.1:c.722G>A, NM_001375456.1:c.722G>C, NM_001387665.1:c.722G>A, NM_001387665.1:c.722G>C, NM_001387674.1:c.722G>A, NM_001387674.1:c.722G>C, NM_001375460.1:c.722G>A, NM_001375460.1:c.722G>C, NM_001387672.1:c.722G>A, NM_001387672.1:c.722G>C, NM_001375461.1:c.722G>A, NM_001375461.1:c.722G>C, NM_001387664.1:c.722G>A, NM_001387664.1:c.722G>C, NM_001387666.1:c.722G>A, NM_001387666.1:c.722G>C, NM_001375458.1:c.722G>A, NM_001375458.1:c.722G>C, NM_001387671.1:c.722G>A, NM_001387671.1:c.722G>C, NM_001387669.1:c.722G>A, NM_001387669.1:c.722G>C, NM_001375464.1:c.722G>A, NM_001375464.1:c.722G>C, NM_001375462.1:c.722G>A, NM_001375462.1:c.722G>C, NM_001375459.1:c.722G>A, NM_001375459.1:c.722G>C, NM_001375463.1:c.722G>A, NM_001375463.1:c.722G>C, NM_001387673.1:c.722G>A, NM_001387673.1:c.722G>C, NR_164692.1:n.978G>A, NR_164692.1:n.978G>C, NM_001375465.1:c.722G>A, NM_001375465.1:c.722G>C, NM_001387668.1:c.722G>A, NM_001387668.1:c.722G>C, NM_001387663.1:c.722G>A, NM_001387663.1:c.722G>C, NM_001387670.1:c.722G>A, NM_001387670.1:c.722G>C, NM_001387675.1:c.233G>A, NM_001387675.1:c.233G>C, NM_001387676.1:c.233G>A, NM_001387676.1:c.233G>C, NM_001387678.1:c.722G>A, NM_001387678.1:c.722G>C, NM_001387682.1:c.722G>A, NM_001387682.1:c.722G>C, NM_001387681.1:c.722G>A, NM_001387681.1:c.722G>C, NM_001387680.1:c.722G>A, NM_001387680.1:c.722G>C, NM_001387677.1:c.722G>A, NM_001387677.1:c.722G>C, NM_001387683.1:c.722G>A, NM_001387683.1:c.722G>C, NM_001387679.1:c.722G>A, NM_001387679.1:c.722G>C, XM_011512823.3:c.797G>A, XM_011512823.3:c.797G>C, XM_011512823.2:c.797G>A, XM_011512823.2:c.797G>C, XM_011512823.1:c.797G>A, XM_011512823.1:c.797G>C, XM_017006378.2:c.722G>A, XM_017006378.2:c.722G>C, XM_017006378.1:c.722G>A, XM_017006378.1:c.722G>C, XM_047448100.1:c.782G>A, XM_047448100.1:c.782G>C, XM_047448103.1:c.722G>A, XM_047448103.1:c.722G>C, XM_047448115.1:c.722G>A, XM_047448115.1:c.722G>C, XM_047448105.1:c.722G>A, XM_047448105.1:c.722G>C, XM_047448109.1:c.722G>A, XM_047448109.1:c.722G>C, XM_047448102.1:c.722G>A, XM_047448102.1:c.722G>C, XM_047448101.1:c.722G>A, XM_047448101.1:c.722G>C, XM_047448104.1:c.722G>A, XM_047448104.1:c.722G>C, XM_047448108.1:c.722G>A, XM_047448108.1:c.722G>C, XM_047448106.1:c.722G>A, XM_047448106.1:c.722G>C, XM_047448097.1:c.914G>A, XM_047448097.1:c.914G>C, XM_047448114.1:c.722G>A, XM_047448114.1:c.722G>C, XM_047448110.1:c.722G>A, XM_047448110.1:c.722G>C, XM_047448113.1:c.722G>A, XM_047448113.1:c.722G>C, XM_047448112.1:c.722G>A, XM_047448112.1:c.722G>C, XM_047448111.1:c.722G>A, XM_047448111.1:c.722G>C, XM_047448099.1:c.791G>A, XM_047448099.1:c.791G>C, XM_047448107.1:c.722G>A, XM_047448107.1:c.722G>C, XM_047448098.1:c.857G>A, XM_047448098.1:c.857G>C, XM_047448116.1:c.722G>A, XM_047448116.1:c.722G>C, XM_017006381.1:c.722G>A, XM_017006381.1:c.722G>C, NP_005569.1:p.Gly241Glu, NP_005569.1:p.Gly241Ala, NP_001161143.1:p.Gly241Glu, NP_001161143.1:p.Gly241Ala, NP_001362386.1:p.Gly241Glu, NP_001362386.1:p.Gly241Ala, NP_001374596.1:p.Gly241Glu, NP_001374596.1:p.Gly241Ala, NP_001362384.1:p.Gly241Glu, NP_001362384.1:p.Gly241Ala, NP_001362385.1:p.Gly241Glu, NP_001362385.1:p.Gly241Ala, NP_001374594.1:p.Gly241Glu, NP_001374594.1:p.Gly241Ala, NP_001374603.1:p.Gly241Glu, NP_001374603.1:p.Gly241Ala, NP_001362389.1:p.Gly241Glu, NP_001362389.1:p.Gly241Ala, NP_001374601.1:p.Gly241Glu, NP_001374601.1:p.Gly241Ala, NP_001362390.1:p.Gly241Glu, NP_001362390.1:p.Gly241Ala, NP_001374593.1:p.Gly241Glu, NP_001374593.1:p.Gly241Ala, NP_001374595.1:p.Gly241Glu, NP_001374595.1:p.Gly241Ala, NP_001362387.1:p.Gly241Glu, NP_001362387.1:p.Gly241Ala, NP_001374600.1:p.Gly241Glu, NP_001374600.1:p.Gly241Ala, NP_001374598.1:p.Gly241Glu, NP_001374598.1:p.Gly241Ala, NP_001362393.1:p.Gly241Glu, NP_001362393.1:p.Gly241Ala, NP_001362391.1:p.Gly241Glu, NP_001362391.1:p.Gly241Ala, NP_001362388.1:p.Gly241Glu, NP_001362388.1:p.Gly241Ala, NP_001362392.1:p.Gly241Glu, NP_001362392.1:p.Gly241Ala, NP_001374602.1:p.Gly241Glu, NP_001374602.1:p.Gly241Ala, NP_001362394.1:p.Gly241Glu, NP_001362394.1:p.Gly241Ala, NP_001374597.1:p.Gly241Glu, NP_001374597.1:p.Gly241Ala, NP_001374592.1:p.Gly241Glu, NP_001374592.1:p.Gly241Ala, NP_001374599.1:p.Gly241Glu, NP_001374599.1:p.Gly241Ala, NP_001374604.1:p.Gly78Glu, NP_001374604.1:p.Gly78Ala, NP_001374605.1:p.Gly78Glu, NP_001374605.1:p.Gly78Ala, NP_001374607.1:p.Gly241Glu, NP_001374607.1:p.Gly241Ala, NP_001374611.1:p.Gly241Glu, NP_001374611.1:p.Gly241Ala, NP_001374610.1:p.Gly241Glu, NP_001374610.1:p.Gly241Ala, NP_001374609.1:p.Gly241Glu, NP_001374609.1:p.Gly241Ala, NP_001374606.1:p.Gly241Glu, NP_001374606.1:p.Gly241Ala, NP_001374612.1:p.Gly241Glu, NP_001374612.1:p.Gly241Ala, NP_001374608.1:p.Gly241Glu, NP_001374608.1:p.Gly241Ala, XP_011511125.1:p.Gly266Glu, XP_011511125.1:p.Gly266Ala, XP_016861867.1:p.Gly241Glu, XP_016861867.1:p.Gly241Ala, XP_047304056.1:p.Gly261Glu, XP_047304056.1:p.Gly261Ala, XP_047304059.1:p.Gly241Glu, XP_047304059.1:p.Gly241Ala, XP_047304071.1:p.Gly241Glu, XP_047304071.1:p.Gly241Ala, XP_047304061.1:p.Gly241Glu, XP_047304061.1:p.Gly241Ala, XP_047304065.1:p.Gly241Glu, XP_047304065.1:p.Gly241Ala, XP_047304058.1:p.Gly241Glu, XP_047304058.1:p.Gly241Ala, XP_047304057.1:p.Gly241Glu, XP_047304057.1:p.Gly241Ala, XP_047304060.1:p.Gly241Glu, XP_047304060.1:p.Gly241Ala, XP_047304064.1:p.Gly241Glu, XP_047304064.1:p.Gly241Ala, XP_047304062.1:p.Gly241Glu, XP_047304062.1:p.Gly241Ala, XP_047304053.1:p.Gly305Glu, XP_047304053.1:p.Gly305Ala, XP_047304070.1:p.Gly241Glu, XP_047304070.1:p.Gly241Ala, XP_047304066.1:p.Gly241Glu, XP_047304066.1:p.Gly241Ala, XP_047304069.1:p.Gly241Glu, XP_047304069.1:p.Gly241Ala, XP_047304068.1:p.Gly241Glu, XP_047304068.1:p.Gly241Ala, XP_047304067.1:p.Gly241Glu, XP_047304067.1:p.Gly241Ala, XP_047304055.1:p.Gly264Glu, XP_047304055.1:p.Gly264Ala, XP_047304063.1:p.Gly241Glu, XP_047304063.1:p.Gly241Ala, XP_047304054.1:p.Gly286Glu, XP_047304054.1:p.Gly286Ala, XP_047304072.1:p.Gly241Glu, XP_047304072.1:p.Gly241Ala, XP_016861870.1:p.Gly241Glu, XP_016861870.1:p.Gly241Ala

                8.

                rs1479979432 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:188609692 (GRCh38)
                  3:188327480 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:188609691:G:A
                  Gene:
                  LPP (Varview), LOC124906316 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.188609692G>A, NC_000003.11:g.188327480G>A, NG_016932.2:g.460818G>A, NM_005578.5:c.961G>A, NM_005578.4:c.961G>A, NM_005578.3:c.961G>A, NM_001167671.3:c.961G>A, NM_001167671.2:c.961G>A, NM_001167671.1:c.961G>A, NM_001375457.1:c.961G>A, NM_001387667.1:c.961G>A, NM_001375455.1:c.961G>A, NM_001375456.1:c.961G>A, NM_001387665.1:c.961G>A, NM_001387674.1:c.961G>A, NM_001375460.1:c.961G>A, NM_001387672.1:c.961G>A, NM_001375461.1:c.961G>A, NM_001387664.1:c.961G>A, NM_001387666.1:c.961G>A, NM_001375458.1:c.961G>A, NM_001387671.1:c.961G>A, NM_001387669.1:c.961G>A, NM_001375464.1:c.961G>A, NM_001375462.1:c.961G>A, NM_001375459.1:c.961G>A, NM_001375463.1:c.961G>A, NM_001387673.1:c.961G>A, NR_164692.1:n.1217G>A, NM_001375465.1:c.961G>A, NM_001387668.1:c.961G>A, NM_001387663.1:c.961G>A, NM_001387670.1:c.961G>A, NM_001387675.1:c.472G>A, NM_001387676.1:c.472G>A, NM_001387678.1:c.961G>A, NM_001387682.1:c.961G>A, NM_001387681.1:c.961G>A, NM_001387680.1:c.961G>A, NM_001387677.1:c.961G>A, NM_001387683.1:c.961G>A, NM_001387679.1:c.961G>A, XM_011512823.3:c.1036G>A, XM_011512823.2:c.1036G>A, XM_011512823.1:c.1036G>A, XM_017006378.2:c.961G>A, XM_017006378.1:c.961G>A, XM_047448100.1:c.1021G>A, XM_047448103.1:c.961G>A, XM_047448115.1:c.961G>A, XM_047448105.1:c.961G>A, XM_047448109.1:c.961G>A, XM_047448102.1:c.961G>A, XM_047448101.1:c.961G>A, XM_047448104.1:c.961G>A, XM_047448108.1:c.961G>A, XM_047448106.1:c.961G>A, XM_047448097.1:c.1153G>A, XM_047448114.1:c.961G>A, XM_047448110.1:c.961G>A, XM_047448113.1:c.961G>A, XM_047448112.1:c.961G>A, XM_047448111.1:c.961G>A, XM_047448099.1:c.1030G>A, XM_047448107.1:c.961G>A, XM_047448098.1:c.1096G>A, XM_047448116.1:c.961G>A, XM_017006381.1:c.961G>A, NP_005569.1:p.Gly321Ser, NP_001161143.1:p.Gly321Ser, NP_001362386.1:p.Gly321Ser, NP_001374596.1:p.Gly321Ser, NP_001362384.1:p.Gly321Ser, NP_001362385.1:p.Gly321Ser, NP_001374594.1:p.Gly321Ser, NP_001374603.1:p.Gly321Ser, NP_001362389.1:p.Gly321Ser, NP_001374601.1:p.Gly321Ser, NP_001362390.1:p.Gly321Ser, NP_001374593.1:p.Gly321Ser, NP_001374595.1:p.Gly321Ser, NP_001362387.1:p.Gly321Ser, NP_001374600.1:p.Gly321Ser, NP_001374598.1:p.Gly321Ser, NP_001362393.1:p.Gly321Ser, NP_001362391.1:p.Gly321Ser, NP_001362388.1:p.Gly321Ser, NP_001362392.1:p.Gly321Ser, NP_001374602.1:p.Gly321Ser, NP_001362394.1:p.Gly321Ser, NP_001374597.1:p.Gly321Ser, NP_001374592.1:p.Gly321Ser, NP_001374599.1:p.Gly321Ser, NP_001374604.1:p.Gly158Ser, NP_001374605.1:p.Gly158Ser, NP_001374607.1:p.Gly321Ser, NP_001374611.1:p.Gly321Ser, NP_001374610.1:p.Gly321Ser, NP_001374609.1:p.Gly321Ser, NP_001374606.1:p.Gly321Ser, NP_001374612.1:p.Gly321Ser, NP_001374608.1:p.Gly321Ser, XP_011511125.1:p.Gly346Ser, XP_016861867.1:p.Gly321Ser, XP_047304056.1:p.Gly341Ser, XP_047304059.1:p.Gly321Ser, XP_047304071.1:p.Gly321Ser, XP_047304061.1:p.Gly321Ser, XP_047304065.1:p.Gly321Ser, XP_047304058.1:p.Gly321Ser, XP_047304057.1:p.Gly321Ser, XP_047304060.1:p.Gly321Ser, XP_047304064.1:p.Gly321Ser, XP_047304062.1:p.Gly321Ser, XP_047304053.1:p.Gly385Ser, XP_047304070.1:p.Gly321Ser, XP_047304066.1:p.Gly321Ser, XP_047304069.1:p.Gly321Ser, XP_047304068.1:p.Gly321Ser, XP_047304067.1:p.Gly321Ser, XP_047304055.1:p.Gly344Ser, XP_047304063.1:p.Gly321Ser, XP_047304054.1:p.Gly366Ser, XP_047304072.1:p.Gly321Ser, XP_016861870.1:p.Gly321Ser

                  9.

                  rs1478535159 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:188406163 (GRCh38)
                    3:188123951 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:188406162:C:T
                    Gene:
                    LPP (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.188406163C>T, NC_000003.11:g.188123951C>T, NG_016932.2:g.257289C>T, NM_005578.5:c.43C>T, NM_005578.4:c.43C>T, NM_005578.3:c.43C>T, NM_001167671.3:c.43C>T, NM_001167671.2:c.43C>T, NM_001167671.1:c.43C>T, NM_001167672.3:c.43C>T, NM_001167672.2:c.43C>T, NM_001167672.1:c.43C>T, NM_001375457.1:c.43C>T, NM_001387667.1:c.43C>T, NM_001375455.1:c.43C>T, NM_001375456.1:c.43C>T, NM_001387665.1:c.43C>T, NM_001387674.1:c.43C>T, NM_001375460.1:c.43C>T, NM_001387672.1:c.43C>T, NM_001375461.1:c.43C>T, NM_001387664.1:c.43C>T, NM_001387666.1:c.43C>T, NM_001375458.1:c.43C>T, NM_001387671.1:c.43C>T, NM_001387669.1:c.43C>T, NM_001375464.1:c.43C>T, NM_001375462.1:c.43C>T, NM_001375459.1:c.43C>T, NM_001375463.1:c.43C>T, NM_001387673.1:c.43C>T, NR_164692.1:n.299C>T, NM_001375465.1:c.43C>T, NM_001387668.1:c.43C>T, NM_001387663.1:c.43C>T, NM_001387670.1:c.43C>T, NM_001387678.1:c.43C>T, NM_001387682.1:c.43C>T, NM_001387681.1:c.43C>T, NM_001387680.1:c.43C>T, NM_001387677.1:c.43C>T, NM_001387683.1:c.43C>T, NM_001387679.1:c.43C>T, XM_011512823.3:c.118C>T, XM_011512823.2:c.118C>T, XM_011512823.1:c.118C>T, XM_017006378.2:c.43C>T, XM_017006378.1:c.43C>T, XM_047448100.1:c.103C>T, XM_047448103.1:c.43C>T, XM_047448115.1:c.43C>T, XM_047448105.1:c.43C>T, XM_047448109.1:c.43C>T, XM_047448102.1:c.43C>T, XM_047448101.1:c.43C>T, XM_047448104.1:c.43C>T, XM_047448108.1:c.43C>T, XM_047448106.1:c.43C>T, XM_047448097.1:c.235C>T, XM_047448114.1:c.43C>T, XM_047448110.1:c.43C>T, XM_047448113.1:c.43C>T, XM_047448112.1:c.43C>T, XM_047448111.1:c.43C>T, XM_047448099.1:c.112C>T, XM_047448107.1:c.43C>T, XM_047448098.1:c.178C>T, XM_047448116.1:c.43C>T, XM_017006381.1:c.43C>T, NP_005569.1:p.Pro15Ser, NP_001161143.1:p.Pro15Ser, NP_001161144.1:p.Pro15Ser, NP_001362386.1:p.Pro15Ser, NP_001374596.1:p.Pro15Ser, NP_001362384.1:p.Pro15Ser, NP_001362385.1:p.Pro15Ser, NP_001374594.1:p.Pro15Ser, NP_001374603.1:p.Pro15Ser, NP_001362389.1:p.Pro15Ser, NP_001374601.1:p.Pro15Ser, NP_001362390.1:p.Pro15Ser, NP_001374593.1:p.Pro15Ser, NP_001374595.1:p.Pro15Ser, NP_001362387.1:p.Pro15Ser, NP_001374600.1:p.Pro15Ser, NP_001374598.1:p.Pro15Ser, NP_001362393.1:p.Pro15Ser, NP_001362391.1:p.Pro15Ser, NP_001362388.1:p.Pro15Ser, NP_001362392.1:p.Pro15Ser, NP_001374602.1:p.Pro15Ser, NP_001362394.1:p.Pro15Ser, NP_001374597.1:p.Pro15Ser, NP_001374592.1:p.Pro15Ser, NP_001374599.1:p.Pro15Ser, NP_001374607.1:p.Pro15Ser, NP_001374611.1:p.Pro15Ser, NP_001374610.1:p.Pro15Ser, NP_001374609.1:p.Pro15Ser, NP_001374606.1:p.Pro15Ser, NP_001374612.1:p.Pro15Ser, NP_001374608.1:p.Pro15Ser, XP_011511125.1:p.Pro40Ser, XP_016861867.1:p.Pro15Ser, XP_047304056.1:p.Pro35Ser, XP_047304059.1:p.Pro15Ser, XP_047304071.1:p.Pro15Ser, XP_047304061.1:p.Pro15Ser, XP_047304065.1:p.Pro15Ser, XP_047304058.1:p.Pro15Ser, XP_047304057.1:p.Pro15Ser, XP_047304060.1:p.Pro15Ser, XP_047304064.1:p.Pro15Ser, XP_047304062.1:p.Pro15Ser, XP_047304053.1:p.Pro79Ser, XP_047304070.1:p.Pro15Ser, XP_047304066.1:p.Pro15Ser, XP_047304069.1:p.Pro15Ser, XP_047304068.1:p.Pro15Ser, XP_047304067.1:p.Pro15Ser, XP_047304055.1:p.Pro38Ser, XP_047304063.1:p.Pro15Ser, XP_047304054.1:p.Pro60Ser, XP_047304072.1:p.Pro15Ser, XP_016861870.1:p.Pro15Ser

                    10.

                    rs1472314713 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:188609198 (GRCh38)
                      3:188326986 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:188609197:C:T
                      Gene:
                      LPP (Varview), LOC124906316 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (GnomAD_exomes)
                      T=0.000026/7 (TOPMED)
                      HGVS:
                      NC_000003.12:g.188609198C>T, NC_000003.11:g.188326986C>T, NG_016932.2:g.460324C>T, NM_005578.5:c.467C>T, NM_005578.4:c.467C>T, NM_005578.3:c.467C>T, NM_001167671.3:c.467C>T, NM_001167671.2:c.467C>T, NM_001167671.1:c.467C>T, NM_001167672.3:c.467C>T, NM_001167672.2:c.467C>T, NM_001167672.1:c.467C>T, NM_001375457.1:c.467C>T, NM_001387667.1:c.467C>T, NM_001375455.1:c.467C>T, NM_001375456.1:c.467C>T, NM_001387665.1:c.467C>T, NM_001387674.1:c.467C>T, NM_001375460.1:c.467C>T, NM_001387672.1:c.467C>T, NM_001375461.1:c.467C>T, NM_001387664.1:c.467C>T, NM_001387666.1:c.467C>T, NM_001375458.1:c.467C>T, NM_001387671.1:c.467C>T, NM_001387669.1:c.467C>T, NM_001375464.1:c.467C>T, NM_001375462.1:c.467C>T, NM_001375459.1:c.467C>T, NM_001375463.1:c.467C>T, NM_001387673.1:c.467C>T, NR_164692.1:n.723C>T, NM_001375465.1:c.467C>T, NM_001387668.1:c.467C>T, NM_001387663.1:c.467C>T, NM_001387670.1:c.467C>T, NM_001387675.1:c.-23C>T, NM_001387676.1:c.-23C>T, NM_001387678.1:c.467C>T, NM_001387682.1:c.467C>T, NM_001387681.1:c.467C>T, NM_001387680.1:c.467C>T, NM_001387677.1:c.467C>T, NM_001387683.1:c.467C>T, NM_001387679.1:c.467C>T, XM_011512823.3:c.542C>T, XM_011512823.2:c.542C>T, XM_011512823.1:c.542C>T, XM_017006378.2:c.467C>T, XM_017006378.1:c.467C>T, XM_047448100.1:c.527C>T, XM_047448103.1:c.467C>T, XM_047448115.1:c.467C>T, XM_047448105.1:c.467C>T, XM_047448109.1:c.467C>T, XM_047448102.1:c.467C>T, XM_047448101.1:c.467C>T, XM_047448104.1:c.467C>T, XM_047448108.1:c.467C>T, XM_047448106.1:c.467C>T, XM_047448097.1:c.659C>T, XM_047448114.1:c.467C>T, XM_047448110.1:c.467C>T, XM_047448113.1:c.467C>T, XM_047448112.1:c.467C>T, XM_047448111.1:c.467C>T, XM_047448099.1:c.536C>T, XM_047448107.1:c.467C>T, XM_047448098.1:c.602C>T, XM_047448116.1:c.467C>T, XM_017006381.1:c.467C>T, NP_005569.1:p.Thr156Ile, NP_001161143.1:p.Thr156Ile, NP_001161144.1:p.Thr156Ile, NP_001362386.1:p.Thr156Ile, NP_001374596.1:p.Thr156Ile, NP_001362384.1:p.Thr156Ile, NP_001362385.1:p.Thr156Ile, NP_001374594.1:p.Thr156Ile, NP_001374603.1:p.Thr156Ile, NP_001362389.1:p.Thr156Ile, NP_001374601.1:p.Thr156Ile, NP_001362390.1:p.Thr156Ile, NP_001374593.1:p.Thr156Ile, NP_001374595.1:p.Thr156Ile, NP_001362387.1:p.Thr156Ile, NP_001374600.1:p.Thr156Ile, NP_001374598.1:p.Thr156Ile, NP_001362393.1:p.Thr156Ile, NP_001362391.1:p.Thr156Ile, NP_001362388.1:p.Thr156Ile, NP_001362392.1:p.Thr156Ile, NP_001374602.1:p.Thr156Ile, NP_001362394.1:p.Thr156Ile, NP_001374597.1:p.Thr156Ile, NP_001374592.1:p.Thr156Ile, NP_001374599.1:p.Thr156Ile, NP_001374607.1:p.Thr156Ile, NP_001374611.1:p.Thr156Ile, NP_001374610.1:p.Thr156Ile, NP_001374609.1:p.Thr156Ile, NP_001374606.1:p.Thr156Ile, NP_001374612.1:p.Thr156Ile, NP_001374608.1:p.Thr156Ile, XP_011511125.1:p.Thr181Ile, XP_016861867.1:p.Thr156Ile, XP_047304056.1:p.Thr176Ile, XP_047304059.1:p.Thr156Ile, XP_047304071.1:p.Thr156Ile, XP_047304061.1:p.Thr156Ile, XP_047304065.1:p.Thr156Ile, XP_047304058.1:p.Thr156Ile, XP_047304057.1:p.Thr156Ile, XP_047304060.1:p.Thr156Ile, XP_047304064.1:p.Thr156Ile, XP_047304062.1:p.Thr156Ile, XP_047304053.1:p.Thr220Ile, XP_047304070.1:p.Thr156Ile, XP_047304066.1:p.Thr156Ile, XP_047304069.1:p.Thr156Ile, XP_047304068.1:p.Thr156Ile, XP_047304067.1:p.Thr156Ile, XP_047304055.1:p.Thr179Ile, XP_047304063.1:p.Thr156Ile, XP_047304054.1:p.Thr201Ile, XP_047304072.1:p.Thr156Ile, XP_016861870.1:p.Thr156Ile

                      11.

                      rs1472148098 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:188524770 (GRCh38)
                        3:188242558 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:188524769:A:G
                        Gene:
                        LPP (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.188524770A>G, NC_000003.11:g.188242558A>G, NG_016932.2:g.375896A>G, NM_005578.5:c.412A>G, NM_005578.4:c.412A>G, NM_005578.3:c.412A>G, NM_001167671.3:c.412A>G, NM_001167671.2:c.412A>G, NM_001167671.1:c.412A>G, NM_001167672.3:c.412A>G, NM_001167672.2:c.412A>G, NM_001167672.1:c.412A>G, NM_001375457.1:c.412A>G, NM_001387667.1:c.412A>G, NM_001375455.1:c.412A>G, NM_001375456.1:c.412A>G, NM_001387665.1:c.412A>G, NM_001387674.1:c.412A>G, NM_001375460.1:c.412A>G, NM_001387672.1:c.412A>G, NM_001375461.1:c.412A>G, NM_001387664.1:c.412A>G, NM_001387666.1:c.412A>G, NM_001375458.1:c.412A>G, NM_001387671.1:c.412A>G, NM_001387669.1:c.412A>G, NM_001375464.1:c.412A>G, NM_001375462.1:c.412A>G, NM_001375459.1:c.412A>G, NM_001375463.1:c.412A>G, NM_001387673.1:c.412A>G, NR_164692.1:n.668A>G, NM_001375465.1:c.412A>G, NM_001387668.1:c.412A>G, NM_001387663.1:c.412A>G, NM_001387670.1:c.412A>G, NM_001387678.1:c.412A>G, NM_001387682.1:c.412A>G, NM_001387681.1:c.412A>G, NM_001387680.1:c.412A>G, NM_001387677.1:c.412A>G, NM_001387683.1:c.412A>G, NM_001387679.1:c.412A>G, XM_011512823.3:c.487A>G, XM_011512823.2:c.487A>G, XM_011512823.1:c.487A>G, XM_017006378.2:c.412A>G, XM_017006378.1:c.412A>G, XM_047448100.1:c.472A>G, XM_047448103.1:c.412A>G, XM_047448115.1:c.412A>G, XM_047448105.1:c.412A>G, XM_047448109.1:c.412A>G, XM_047448102.1:c.412A>G, XM_047448101.1:c.412A>G, XM_047448104.1:c.412A>G, XM_047448108.1:c.412A>G, XM_047448106.1:c.412A>G, XM_047448097.1:c.604A>G, XM_047448114.1:c.412A>G, XM_047448110.1:c.412A>G, XM_047448113.1:c.412A>G, XM_047448112.1:c.412A>G, XM_047448111.1:c.412A>G, XM_047448099.1:c.481A>G, XM_047448107.1:c.412A>G, XM_047448098.1:c.547A>G, XM_047448116.1:c.412A>G, XM_017006381.1:c.412A>G, NP_005569.1:p.Lys138Glu, NP_001161143.1:p.Lys138Glu, NP_001161144.1:p.Lys138Glu, NP_001362386.1:p.Lys138Glu, NP_001374596.1:p.Lys138Glu, NP_001362384.1:p.Lys138Glu, NP_001362385.1:p.Lys138Glu, NP_001374594.1:p.Lys138Glu, NP_001374603.1:p.Lys138Glu, NP_001362389.1:p.Lys138Glu, NP_001374601.1:p.Lys138Glu, NP_001362390.1:p.Lys138Glu, NP_001374593.1:p.Lys138Glu, NP_001374595.1:p.Lys138Glu, NP_001362387.1:p.Lys138Glu, NP_001374600.1:p.Lys138Glu, NP_001374598.1:p.Lys138Glu, NP_001362393.1:p.Lys138Glu, NP_001362391.1:p.Lys138Glu, NP_001362388.1:p.Lys138Glu, NP_001362392.1:p.Lys138Glu, NP_001374602.1:p.Lys138Glu, NP_001362394.1:p.Lys138Glu, NP_001374597.1:p.Lys138Glu, NP_001374592.1:p.Lys138Glu, NP_001374599.1:p.Lys138Glu, NP_001374607.1:p.Lys138Glu, NP_001374611.1:p.Lys138Glu, NP_001374610.1:p.Lys138Glu, NP_001374609.1:p.Lys138Glu, NP_001374606.1:p.Lys138Glu, NP_001374612.1:p.Lys138Glu, NP_001374608.1:p.Lys138Glu, XP_011511125.1:p.Lys163Glu, XP_016861867.1:p.Lys138Glu, XP_047304056.1:p.Lys158Glu, XP_047304059.1:p.Lys138Glu, XP_047304071.1:p.Lys138Glu, XP_047304061.1:p.Lys138Glu, XP_047304065.1:p.Lys138Glu, XP_047304058.1:p.Lys138Glu, XP_047304057.1:p.Lys138Glu, XP_047304060.1:p.Lys138Glu, XP_047304064.1:p.Lys138Glu, XP_047304062.1:p.Lys138Glu, XP_047304053.1:p.Lys202Glu, XP_047304070.1:p.Lys138Glu, XP_047304066.1:p.Lys138Glu, XP_047304069.1:p.Lys138Glu, XP_047304068.1:p.Lys138Glu, XP_047304067.1:p.Lys138Glu, XP_047304055.1:p.Lys161Glu, XP_047304063.1:p.Lys138Glu, XP_047304054.1:p.Lys183Glu, XP_047304072.1:p.Lys138Glu, XP_016861870.1:p.Lys138Glu

                        12.

                        rs1470713522 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:188746492 (GRCh38)
                          3:188464280 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:188746491:C:T
                          Gene:
                          LPP (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1470304067 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            3:188609563 (GRCh38)
                            3:188327351 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:188609562:C:A,NC_000003.12:188609562:C:T
                            Gene:
                            LPP (Varview), LOC124906316 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000028/1 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000003.12:g.188609563C>A, NC_000003.12:g.188609563C>T, NC_000003.11:g.188327351C>A, NC_000003.11:g.188327351C>T, NG_016932.2:g.460689C>A, NG_016932.2:g.460689C>T, NM_005578.5:c.832C>A, NM_005578.5:c.832C>T, NM_005578.4:c.832C>A, NM_005578.4:c.832C>T, NM_005578.3:c.832C>A, NM_005578.3:c.832C>T, NM_001167671.3:c.832C>A, NM_001167671.3:c.832C>T, NM_001167671.2:c.832C>A, NM_001167671.2:c.832C>T, NM_001167671.1:c.832C>A, NM_001167671.1:c.832C>T, NM_001375457.1:c.832C>A, NM_001375457.1:c.832C>T, NM_001387667.1:c.832C>A, NM_001387667.1:c.832C>T, NM_001375455.1:c.832C>A, NM_001375455.1:c.832C>T, NM_001375456.1:c.832C>A, NM_001375456.1:c.832C>T, NM_001387665.1:c.832C>A, NM_001387665.1:c.832C>T, NM_001387674.1:c.832C>A, NM_001387674.1:c.832C>T, NM_001375460.1:c.832C>A, NM_001375460.1:c.832C>T, NM_001387672.1:c.832C>A, NM_001387672.1:c.832C>T, NM_001375461.1:c.832C>A, NM_001375461.1:c.832C>T, NM_001387664.1:c.832C>A, NM_001387664.1:c.832C>T, NM_001387666.1:c.832C>A, NM_001387666.1:c.832C>T, NM_001375458.1:c.832C>A, NM_001375458.1:c.832C>T, NM_001387671.1:c.832C>A, NM_001387671.1:c.832C>T, NM_001387669.1:c.832C>A, NM_001387669.1:c.832C>T, NM_001375464.1:c.832C>A, NM_001375464.1:c.832C>T, NM_001375462.1:c.832C>A, NM_001375462.1:c.832C>T, NM_001375459.1:c.832C>A, NM_001375459.1:c.832C>T, NM_001375463.1:c.832C>A, NM_001375463.1:c.832C>T, NM_001387673.1:c.832C>A, NM_001387673.1:c.832C>T, NR_164692.1:n.1088C>A, NR_164692.1:n.1088C>T, NM_001375465.1:c.832C>A, NM_001375465.1:c.832C>T, NM_001387668.1:c.832C>A, NM_001387668.1:c.832C>T, NM_001387663.1:c.832C>A, NM_001387663.1:c.832C>T, NM_001387670.1:c.832C>A, NM_001387670.1:c.832C>T, NM_001387675.1:c.343C>A, NM_001387675.1:c.343C>T, NM_001387676.1:c.343C>A, NM_001387676.1:c.343C>T, NM_001387678.1:c.832C>A, NM_001387678.1:c.832C>T, NM_001387682.1:c.832C>A, NM_001387682.1:c.832C>T, NM_001387681.1:c.832C>A, NM_001387681.1:c.832C>T, NM_001387680.1:c.832C>A, NM_001387680.1:c.832C>T, NM_001387677.1:c.832C>A, NM_001387677.1:c.832C>T, NM_001387683.1:c.832C>A, NM_001387683.1:c.832C>T, NM_001387679.1:c.832C>A, NM_001387679.1:c.832C>T, XM_011512823.3:c.907C>A, XM_011512823.3:c.907C>T, XM_011512823.2:c.907C>A, XM_011512823.2:c.907C>T, XM_011512823.1:c.907C>A, XM_011512823.1:c.907C>T, XM_017006378.2:c.832C>A, XM_017006378.2:c.832C>T, XM_017006378.1:c.832C>A, XM_017006378.1:c.832C>T, XM_047448100.1:c.892C>A, XM_047448100.1:c.892C>T, XM_047448103.1:c.832C>A, XM_047448103.1:c.832C>T, XM_047448115.1:c.832C>A, XM_047448115.1:c.832C>T, XM_047448105.1:c.832C>A, XM_047448105.1:c.832C>T, XM_047448109.1:c.832C>A, XM_047448109.1:c.832C>T, XM_047448102.1:c.832C>A, XM_047448102.1:c.832C>T, XM_047448101.1:c.832C>A, XM_047448101.1:c.832C>T, XM_047448104.1:c.832C>A, XM_047448104.1:c.832C>T, XM_047448108.1:c.832C>A, XM_047448108.1:c.832C>T, XM_047448106.1:c.832C>A, XM_047448106.1:c.832C>T, XM_047448097.1:c.1024C>A, XM_047448097.1:c.1024C>T, XM_047448114.1:c.832C>A, XM_047448114.1:c.832C>T, XM_047448110.1:c.832C>A, XM_047448110.1:c.832C>T, XM_047448113.1:c.832C>A, XM_047448113.1:c.832C>T, XM_047448112.1:c.832C>A, XM_047448112.1:c.832C>T, XM_047448111.1:c.832C>A, XM_047448111.1:c.832C>T, XM_047448099.1:c.901C>A, XM_047448099.1:c.901C>T, XM_047448107.1:c.832C>A, XM_047448107.1:c.832C>T, XM_047448098.1:c.967C>A, XM_047448098.1:c.967C>T, XM_047448116.1:c.832C>A, XM_047448116.1:c.832C>T, XM_017006381.1:c.832C>A, XM_017006381.1:c.832C>T, NP_005569.1:p.Pro278Thr, NP_005569.1:p.Pro278Ser, NP_001161143.1:p.Pro278Thr, NP_001161143.1:p.Pro278Ser, NP_001362386.1:p.Pro278Thr, NP_001362386.1:p.Pro278Ser, NP_001374596.1:p.Pro278Thr, NP_001374596.1:p.Pro278Ser, NP_001362384.1:p.Pro278Thr, NP_001362384.1:p.Pro278Ser, NP_001362385.1:p.Pro278Thr, NP_001362385.1:p.Pro278Ser, NP_001374594.1:p.Pro278Thr, NP_001374594.1:p.Pro278Ser, NP_001374603.1:p.Pro278Thr, NP_001374603.1:p.Pro278Ser, NP_001362389.1:p.Pro278Thr, NP_001362389.1:p.Pro278Ser, NP_001374601.1:p.Pro278Thr, NP_001374601.1:p.Pro278Ser, NP_001362390.1:p.Pro278Thr, NP_001362390.1:p.Pro278Ser, NP_001374593.1:p.Pro278Thr, NP_001374593.1:p.Pro278Ser, NP_001374595.1:p.Pro278Thr, NP_001374595.1:p.Pro278Ser, NP_001362387.1:p.Pro278Thr, NP_001362387.1:p.Pro278Ser, NP_001374600.1:p.Pro278Thr, NP_001374600.1:p.Pro278Ser, NP_001374598.1:p.Pro278Thr, NP_001374598.1:p.Pro278Ser, NP_001362393.1:p.Pro278Thr, NP_001362393.1:p.Pro278Ser, NP_001362391.1:p.Pro278Thr, NP_001362391.1:p.Pro278Ser, NP_001362388.1:p.Pro278Thr, NP_001362388.1:p.Pro278Ser, NP_001362392.1:p.Pro278Thr, NP_001362392.1:p.Pro278Ser, NP_001374602.1:p.Pro278Thr, NP_001374602.1:p.Pro278Ser, NP_001362394.1:p.Pro278Thr, NP_001362394.1:p.Pro278Ser, NP_001374597.1:p.Pro278Thr, NP_001374597.1:p.Pro278Ser, NP_001374592.1:p.Pro278Thr, NP_001374592.1:p.Pro278Ser, NP_001374599.1:p.Pro278Thr, NP_001374599.1:p.Pro278Ser, NP_001374604.1:p.Pro115Thr, NP_001374604.1:p.Pro115Ser, NP_001374605.1:p.Pro115Thr, NP_001374605.1:p.Pro115Ser, NP_001374607.1:p.Pro278Thr, NP_001374607.1:p.Pro278Ser, NP_001374611.1:p.Pro278Thr, NP_001374611.1:p.Pro278Ser, NP_001374610.1:p.Pro278Thr, NP_001374610.1:p.Pro278Ser, NP_001374609.1:p.Pro278Thr, NP_001374609.1:p.Pro278Ser, NP_001374606.1:p.Pro278Thr, NP_001374606.1:p.Pro278Ser, NP_001374612.1:p.Pro278Thr, NP_001374612.1:p.Pro278Ser, NP_001374608.1:p.Pro278Thr, NP_001374608.1:p.Pro278Ser, XP_011511125.1:p.Pro303Thr, XP_011511125.1:p.Pro303Ser, XP_016861867.1:p.Pro278Thr, XP_016861867.1:p.Pro278Ser, XP_047304056.1:p.Pro298Thr, XP_047304056.1:p.Pro298Ser, XP_047304059.1:p.Pro278Thr, XP_047304059.1:p.Pro278Ser, XP_047304071.1:p.Pro278Thr, XP_047304071.1:p.Pro278Ser, XP_047304061.1:p.Pro278Thr, XP_047304061.1:p.Pro278Ser, XP_047304065.1:p.Pro278Thr, XP_047304065.1:p.Pro278Ser, XP_047304058.1:p.Pro278Thr, XP_047304058.1:p.Pro278Ser, XP_047304057.1:p.Pro278Thr, XP_047304057.1:p.Pro278Ser, XP_047304060.1:p.Pro278Thr, XP_047304060.1:p.Pro278Ser, XP_047304064.1:p.Pro278Thr, XP_047304064.1:p.Pro278Ser, XP_047304062.1:p.Pro278Thr, XP_047304062.1:p.Pro278Ser, XP_047304053.1:p.Pro342Thr, XP_047304053.1:p.Pro342Ser, XP_047304070.1:p.Pro278Thr, XP_047304070.1:p.Pro278Ser, XP_047304066.1:p.Pro278Thr, XP_047304066.1:p.Pro278Ser, XP_047304069.1:p.Pro278Thr, XP_047304069.1:p.Pro278Ser, XP_047304068.1:p.Pro278Thr, XP_047304068.1:p.Pro278Ser, XP_047304067.1:p.Pro278Thr, XP_047304067.1:p.Pro278Ser, XP_047304055.1:p.Pro301Thr, XP_047304055.1:p.Pro301Ser, XP_047304063.1:p.Pro278Thr, XP_047304063.1:p.Pro278Ser, XP_047304054.1:p.Pro323Thr, XP_047304054.1:p.Pro323Ser, XP_047304072.1:p.Pro278Thr, XP_047304072.1:p.Pro278Ser, XP_016861870.1:p.Pro278Thr, XP_016861870.1:p.Pro278Ser

                            14.

                            rs1467555500 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              3:188524689 (GRCh38)
                              3:188242477 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:188524688:G:A,NC_000003.12:188524688:G:T
                              Gene:
                              LPP (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000003.12:g.188524689G>A, NC_000003.12:g.188524689G>T, NC_000003.11:g.188242477G>A, NC_000003.11:g.188242477G>T, NG_016932.2:g.375815G>A, NG_016932.2:g.375815G>T, NM_005578.5:c.331G>A, NM_005578.5:c.331G>T, NM_005578.4:c.331G>A, NM_005578.4:c.331G>T, NM_005578.3:c.331G>A, NM_005578.3:c.331G>T, NM_001167671.3:c.331G>A, NM_001167671.3:c.331G>T, NM_001167671.2:c.331G>A, NM_001167671.2:c.331G>T, NM_001167671.1:c.331G>A, NM_001167671.1:c.331G>T, NM_001167672.3:c.331G>A, NM_001167672.3:c.331G>T, NM_001167672.2:c.331G>A, NM_001167672.2:c.331G>T, NM_001167672.1:c.331G>A, NM_001167672.1:c.331G>T, NM_001375457.1:c.331G>A, NM_001375457.1:c.331G>T, NM_001387667.1:c.331G>A, NM_001387667.1:c.331G>T, NM_001375455.1:c.331G>A, NM_001375455.1:c.331G>T, NM_001375456.1:c.331G>A, NM_001375456.1:c.331G>T, NM_001387665.1:c.331G>A, NM_001387665.1:c.331G>T, NM_001387674.1:c.331G>A, NM_001387674.1:c.331G>T, NM_001375460.1:c.331G>A, NM_001375460.1:c.331G>T, NM_001387672.1:c.331G>A, NM_001387672.1:c.331G>T, NM_001375461.1:c.331G>A, NM_001375461.1:c.331G>T, NM_001387664.1:c.331G>A, NM_001387664.1:c.331G>T, NM_001387666.1:c.331G>A, NM_001387666.1:c.331G>T, NM_001375458.1:c.331G>A, NM_001375458.1:c.331G>T, NM_001387671.1:c.331G>A, NM_001387671.1:c.331G>T, NM_001387669.1:c.331G>A, NM_001387669.1:c.331G>T, NM_001375464.1:c.331G>A, NM_001375464.1:c.331G>T, NM_001375462.1:c.331G>A, NM_001375462.1:c.331G>T, NM_001375459.1:c.331G>A, NM_001375459.1:c.331G>T, NM_001375463.1:c.331G>A, NM_001375463.1:c.331G>T, NM_001387673.1:c.331G>A, NM_001387673.1:c.331G>T, NR_164692.1:n.587G>A, NR_164692.1:n.587G>T, NM_001375465.1:c.331G>A, NM_001375465.1:c.331G>T, NM_001387668.1:c.331G>A, NM_001387668.1:c.331G>T, NM_001387663.1:c.331G>A, NM_001387663.1:c.331G>T, NM_001387670.1:c.331G>A, NM_001387670.1:c.331G>T, NM_001387678.1:c.331G>A, NM_001387678.1:c.331G>T, NM_001387682.1:c.331G>A, NM_001387682.1:c.331G>T, NM_001387681.1:c.331G>A, NM_001387681.1:c.331G>T, NM_001387680.1:c.331G>A, NM_001387680.1:c.331G>T, NM_001387677.1:c.331G>A, NM_001387677.1:c.331G>T, NM_001387683.1:c.331G>A, NM_001387683.1:c.331G>T, NM_001387679.1:c.331G>A, NM_001387679.1:c.331G>T, XM_011512823.3:c.406G>A, XM_011512823.3:c.406G>T, XM_011512823.2:c.406G>A, XM_011512823.2:c.406G>T, XM_011512823.1:c.406G>A, XM_011512823.1:c.406G>T, XM_017006378.2:c.331G>A, XM_017006378.2:c.331G>T, XM_017006378.1:c.331G>A, XM_017006378.1:c.331G>T, XM_047448100.1:c.391G>A, XM_047448100.1:c.391G>T, XM_047448103.1:c.331G>A, XM_047448103.1:c.331G>T, XM_047448115.1:c.331G>A, XM_047448115.1:c.331G>T, XM_047448105.1:c.331G>A, XM_047448105.1:c.331G>T, XM_047448109.1:c.331G>A, XM_047448109.1:c.331G>T, XM_047448102.1:c.331G>A, XM_047448102.1:c.331G>T, XM_047448101.1:c.331G>A, XM_047448101.1:c.331G>T, XM_047448104.1:c.331G>A, XM_047448104.1:c.331G>T, XM_047448108.1:c.331G>A, XM_047448108.1:c.331G>T, XM_047448106.1:c.331G>A, XM_047448106.1:c.331G>T, XM_047448097.1:c.523G>A, XM_047448097.1:c.523G>T, XM_047448114.1:c.331G>A, XM_047448114.1:c.331G>T, XM_047448110.1:c.331G>A, XM_047448110.1:c.331G>T, XM_047448113.1:c.331G>A, XM_047448113.1:c.331G>T, XM_047448112.1:c.331G>A, XM_047448112.1:c.331G>T, XM_047448111.1:c.331G>A, XM_047448111.1:c.331G>T, XM_047448099.1:c.400G>A, XM_047448099.1:c.400G>T, XM_047448107.1:c.331G>A, XM_047448107.1:c.331G>T, XM_047448098.1:c.466G>A, XM_047448098.1:c.466G>T, XM_047448116.1:c.331G>A, XM_047448116.1:c.331G>T, XM_017006381.1:c.331G>A, XM_017006381.1:c.331G>T, NP_005569.1:p.Glu111Lys, NP_005569.1:p.Glu111Ter, NP_001161143.1:p.Glu111Lys, NP_001161143.1:p.Glu111Ter, NP_001161144.1:p.Glu111Lys, NP_001161144.1:p.Glu111Ter, NP_001362386.1:p.Glu111Lys, NP_001362386.1:p.Glu111Ter, NP_001374596.1:p.Glu111Lys, NP_001374596.1:p.Glu111Ter, NP_001362384.1:p.Glu111Lys, NP_001362384.1:p.Glu111Ter, NP_001362385.1:p.Glu111Lys, NP_001362385.1:p.Glu111Ter, NP_001374594.1:p.Glu111Lys, NP_001374594.1:p.Glu111Ter, NP_001374603.1:p.Glu111Lys, NP_001374603.1:p.Glu111Ter, NP_001362389.1:p.Glu111Lys, NP_001362389.1:p.Glu111Ter, NP_001374601.1:p.Glu111Lys, NP_001374601.1:p.Glu111Ter, NP_001362390.1:p.Glu111Lys, NP_001362390.1:p.Glu111Ter, NP_001374593.1:p.Glu111Lys, NP_001374593.1:p.Glu111Ter, NP_001374595.1:p.Glu111Lys, NP_001374595.1:p.Glu111Ter, NP_001362387.1:p.Glu111Lys, NP_001362387.1:p.Glu111Ter, NP_001374600.1:p.Glu111Lys, NP_001374600.1:p.Glu111Ter, NP_001374598.1:p.Glu111Lys, NP_001374598.1:p.Glu111Ter, NP_001362393.1:p.Glu111Lys, NP_001362393.1:p.Glu111Ter, NP_001362391.1:p.Glu111Lys, NP_001362391.1:p.Glu111Ter, NP_001362388.1:p.Glu111Lys, NP_001362388.1:p.Glu111Ter, NP_001362392.1:p.Glu111Lys, NP_001362392.1:p.Glu111Ter, NP_001374602.1:p.Glu111Lys, NP_001374602.1:p.Glu111Ter, NP_001362394.1:p.Glu111Lys, NP_001362394.1:p.Glu111Ter, NP_001374597.1:p.Glu111Lys, NP_001374597.1:p.Glu111Ter, NP_001374592.1:p.Glu111Lys, NP_001374592.1:p.Glu111Ter, NP_001374599.1:p.Glu111Lys, NP_001374599.1:p.Glu111Ter, NP_001374607.1:p.Glu111Lys, NP_001374607.1:p.Glu111Ter, NP_001374611.1:p.Glu111Lys, NP_001374611.1:p.Glu111Ter, NP_001374610.1:p.Glu111Lys, NP_001374610.1:p.Glu111Ter, NP_001374609.1:p.Glu111Lys, NP_001374609.1:p.Glu111Ter, NP_001374606.1:p.Glu111Lys, NP_001374606.1:p.Glu111Ter, NP_001374612.1:p.Glu111Lys, NP_001374612.1:p.Glu111Ter, NP_001374608.1:p.Glu111Lys, NP_001374608.1:p.Glu111Ter, XP_011511125.1:p.Glu136Lys, XP_011511125.1:p.Glu136Ter, XP_016861867.1:p.Glu111Lys, XP_016861867.1:p.Glu111Ter, XP_047304056.1:p.Glu131Lys, XP_047304056.1:p.Glu131Ter, XP_047304059.1:p.Glu111Lys, XP_047304059.1:p.Glu111Ter, XP_047304071.1:p.Glu111Lys, XP_047304071.1:p.Glu111Ter, XP_047304061.1:p.Glu111Lys, XP_047304061.1:p.Glu111Ter, XP_047304065.1:p.Glu111Lys, XP_047304065.1:p.Glu111Ter, XP_047304058.1:p.Glu111Lys, XP_047304058.1:p.Glu111Ter, XP_047304057.1:p.Glu111Lys, XP_047304057.1:p.Glu111Ter, XP_047304060.1:p.Glu111Lys, XP_047304060.1:p.Glu111Ter, XP_047304064.1:p.Glu111Lys, XP_047304064.1:p.Glu111Ter, XP_047304062.1:p.Glu111Lys, XP_047304062.1:p.Glu111Ter, XP_047304053.1:p.Glu175Lys, XP_047304053.1:p.Glu175Ter, XP_047304070.1:p.Glu111Lys, XP_047304070.1:p.Glu111Ter, XP_047304066.1:p.Glu111Lys, XP_047304066.1:p.Glu111Ter, XP_047304069.1:p.Glu111Lys, XP_047304069.1:p.Glu111Ter, XP_047304068.1:p.Glu111Lys, XP_047304068.1:p.Glu111Ter, XP_047304067.1:p.Glu111Lys, XP_047304067.1:p.Glu111Ter, XP_047304055.1:p.Glu134Lys, XP_047304055.1:p.Glu134Ter, XP_047304063.1:p.Glu111Lys, XP_047304063.1:p.Glu111Ter, XP_047304054.1:p.Glu156Lys, XP_047304054.1:p.Glu156Ter, XP_047304072.1:p.Glu111Lys, XP_047304072.1:p.Glu111Ter, XP_016861870.1:p.Glu111Lys, XP_016861870.1:p.Glu111Ter

                              15.

                              rs1467145642 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:188484689 (GRCh38)
                                3:188202477 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:188484688:G:A,NC_000003.12:188484688:G:T
                                Gene:
                                LPP (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000008/2 (GnomAD_exomes)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000003.12:g.188484689G>A, NC_000003.12:g.188484689G>T, NC_000003.11:g.188202477G>A, NC_000003.11:g.188202477G>T, NG_016932.2:g.335815G>A, NG_016932.2:g.335815G>T, NM_005578.5:c.291G>A, NM_005578.5:c.291G>T, NM_005578.4:c.291G>A, NM_005578.4:c.291G>T, NM_005578.3:c.291G>A, NM_005578.3:c.291G>T, NM_001167671.3:c.291G>A, NM_001167671.3:c.291G>T, NM_001167671.2:c.291G>A, NM_001167671.2:c.291G>T, NM_001167671.1:c.291G>A, NM_001167671.1:c.291G>T, NM_001167672.3:c.291G>A, NM_001167672.3:c.291G>T, NM_001167672.2:c.291G>A, NM_001167672.2:c.291G>T, NM_001167672.1:c.291G>A, NM_001167672.1:c.291G>T, NM_001375457.1:c.291G>A, NM_001375457.1:c.291G>T, NM_001387667.1:c.291G>A, NM_001387667.1:c.291G>T, NM_001375455.1:c.291G>A, NM_001375455.1:c.291G>T, NM_001375456.1:c.291G>A, NM_001375456.1:c.291G>T, NM_001387665.1:c.291G>A, NM_001387665.1:c.291G>T, NM_001387674.1:c.291G>A, NM_001387674.1:c.291G>T, NM_001375460.1:c.291G>A, NM_001375460.1:c.291G>T, NM_001387672.1:c.291G>A, NM_001387672.1:c.291G>T, NM_001375461.1:c.291G>A, NM_001375461.1:c.291G>T, NM_001387664.1:c.291G>A, NM_001387664.1:c.291G>T, NM_001387666.1:c.291G>A, NM_001387666.1:c.291G>T, NM_001375458.1:c.291G>A, NM_001375458.1:c.291G>T, NM_001387671.1:c.291G>A, NM_001387671.1:c.291G>T, NM_001387669.1:c.291G>A, NM_001387669.1:c.291G>T, NM_001375464.1:c.291G>A, NM_001375464.1:c.291G>T, NM_001375462.1:c.291G>A, NM_001375462.1:c.291G>T, NM_001375459.1:c.291G>A, NM_001375459.1:c.291G>T, NM_001375463.1:c.291G>A, NM_001375463.1:c.291G>T, NM_001387673.1:c.291G>A, NM_001387673.1:c.291G>T, NR_164692.1:n.547G>A, NR_164692.1:n.547G>T, NM_001375465.1:c.291G>A, NM_001375465.1:c.291G>T, NM_001387668.1:c.291G>A, NM_001387668.1:c.291G>T, NM_001387663.1:c.291G>A, NM_001387663.1:c.291G>T, NM_001387670.1:c.291G>A, NM_001387670.1:c.291G>T, NM_001387678.1:c.291G>A, NM_001387678.1:c.291G>T, NM_001387682.1:c.291G>A, NM_001387682.1:c.291G>T, NM_001387681.1:c.291G>A, NM_001387681.1:c.291G>T, NM_001387680.1:c.291G>A, NM_001387680.1:c.291G>T, NM_001387677.1:c.291G>A, NM_001387677.1:c.291G>T, NM_001387683.1:c.291G>A, NM_001387683.1:c.291G>T, NM_001387679.1:c.291G>A, NM_001387679.1:c.291G>T, XM_011512823.3:c.366G>A, XM_011512823.3:c.366G>T, XM_011512823.2:c.366G>A, XM_011512823.2:c.366G>T, XM_011512823.1:c.366G>A, XM_011512823.1:c.366G>T, XM_017006378.2:c.291G>A, XM_017006378.2:c.291G>T, XM_017006378.1:c.291G>A, XM_017006378.1:c.291G>T, XM_047448100.1:c.351G>A, XM_047448100.1:c.351G>T, XM_047448103.1:c.291G>A, XM_047448103.1:c.291G>T, XM_047448115.1:c.291G>A, XM_047448115.1:c.291G>T, XM_047448105.1:c.291G>A, XM_047448105.1:c.291G>T, XM_047448109.1:c.291G>A, XM_047448109.1:c.291G>T, XM_047448102.1:c.291G>A, XM_047448102.1:c.291G>T, XM_047448101.1:c.291G>A, XM_047448101.1:c.291G>T, XM_047448104.1:c.291G>A, XM_047448104.1:c.291G>T, XM_047448108.1:c.291G>A, XM_047448108.1:c.291G>T, XM_047448106.1:c.291G>A, XM_047448106.1:c.291G>T, XM_047448097.1:c.483G>A, XM_047448097.1:c.483G>T, XM_047448114.1:c.291G>A, XM_047448114.1:c.291G>T, XM_047448110.1:c.291G>A, XM_047448110.1:c.291G>T, XM_047448113.1:c.291G>A, XM_047448113.1:c.291G>T, XM_047448112.1:c.291G>A, XM_047448112.1:c.291G>T, XM_047448111.1:c.291G>A, XM_047448111.1:c.291G>T, XM_047448099.1:c.360G>A, XM_047448099.1:c.360G>T, XM_047448107.1:c.291G>A, XM_047448107.1:c.291G>T, XM_047448098.1:c.426G>A, XM_047448098.1:c.426G>T, XM_047448116.1:c.291G>A, XM_047448116.1:c.291G>T, XM_017006381.1:c.291G>A, XM_017006381.1:c.291G>T, NP_005569.1:p.Glu97Asp, NP_001161143.1:p.Glu97Asp, NP_001161144.1:p.Glu97Asp, NP_001362386.1:p.Glu97Asp, NP_001374596.1:p.Glu97Asp, NP_001362384.1:p.Glu97Asp, NP_001362385.1:p.Glu97Asp, NP_001374594.1:p.Glu97Asp, NP_001374603.1:p.Glu97Asp, NP_001362389.1:p.Glu97Asp, NP_001374601.1:p.Glu97Asp, NP_001362390.1:p.Glu97Asp, NP_001374593.1:p.Glu97Asp, NP_001374595.1:p.Glu97Asp, NP_001362387.1:p.Glu97Asp, NP_001374600.1:p.Glu97Asp, NP_001374598.1:p.Glu97Asp, NP_001362393.1:p.Glu97Asp, NP_001362391.1:p.Glu97Asp, NP_001362388.1:p.Glu97Asp, NP_001362392.1:p.Glu97Asp, NP_001374602.1:p.Glu97Asp, NP_001362394.1:p.Glu97Asp, NP_001374597.1:p.Glu97Asp, NP_001374592.1:p.Glu97Asp, NP_001374599.1:p.Glu97Asp, NP_001374607.1:p.Glu97Asp, NP_001374611.1:p.Glu97Asp, NP_001374610.1:p.Glu97Asp, NP_001374609.1:p.Glu97Asp, NP_001374606.1:p.Glu97Asp, NP_001374612.1:p.Glu97Asp, NP_001374608.1:p.Glu97Asp, XP_011511125.1:p.Glu122Asp, XP_016861867.1:p.Glu97Asp, XP_047304056.1:p.Glu117Asp, XP_047304059.1:p.Glu97Asp, XP_047304071.1:p.Glu97Asp, XP_047304061.1:p.Glu97Asp, XP_047304065.1:p.Glu97Asp, XP_047304058.1:p.Glu97Asp, XP_047304057.1:p.Glu97Asp, XP_047304060.1:p.Glu97Asp, XP_047304064.1:p.Glu97Asp, XP_047304062.1:p.Glu97Asp, XP_047304053.1:p.Glu161Asp, XP_047304070.1:p.Glu97Asp, XP_047304066.1:p.Glu97Asp, XP_047304069.1:p.Glu97Asp, XP_047304068.1:p.Glu97Asp, XP_047304067.1:p.Glu97Asp, XP_047304055.1:p.Glu120Asp, XP_047304063.1:p.Glu97Asp, XP_047304054.1:p.Glu142Asp, XP_047304072.1:p.Glu97Asp, XP_016861870.1:p.Glu97Asp

                                16.

                                rs1464159795 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:188609296 (GRCh38)
                                  3:188327084 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:188609295:G:A
                                  Gene:
                                  LPP (Varview), LOC124906316 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.188609296G>A, NC_000003.11:g.188327084G>A, NG_016932.2:g.460422G>A, NM_005578.5:c.565G>A, NM_005578.4:c.565G>A, NM_005578.3:c.565G>A, NM_001167671.3:c.565G>A, NM_001167671.2:c.565G>A, NM_001167671.1:c.565G>A, NM_001167672.3:c.565G>A, NM_001167672.2:c.565G>A, NM_001167672.1:c.565G>A, NM_001375457.1:c.565G>A, NM_001387667.1:c.565G>A, NM_001375455.1:c.565G>A, NM_001375456.1:c.565G>A, NM_001387665.1:c.565G>A, NM_001387674.1:c.565G>A, NM_001375460.1:c.565G>A, NM_001387672.1:c.565G>A, NM_001375461.1:c.565G>A, NM_001387664.1:c.565G>A, NM_001387666.1:c.565G>A, NM_001375458.1:c.565G>A, NM_001387671.1:c.565G>A, NM_001387669.1:c.565G>A, NM_001375464.1:c.565G>A, NM_001375462.1:c.565G>A, NM_001375459.1:c.565G>A, NM_001375463.1:c.565G>A, NM_001387673.1:c.565G>A, NR_164692.1:n.821G>A, NM_001375465.1:c.565G>A, NM_001387668.1:c.565G>A, NM_001387663.1:c.565G>A, NM_001387670.1:c.565G>A, NM_001387675.1:c.76G>A, NM_001387676.1:c.76G>A, NM_001387678.1:c.565G>A, NM_001387682.1:c.565G>A, NM_001387681.1:c.565G>A, NM_001387680.1:c.565G>A, NM_001387677.1:c.565G>A, NM_001387683.1:c.565G>A, NM_001387679.1:c.565G>A, XM_011512823.3:c.640G>A, XM_011512823.2:c.640G>A, XM_011512823.1:c.640G>A, XM_017006378.2:c.565G>A, XM_017006378.1:c.565G>A, XM_047448100.1:c.625G>A, XM_047448103.1:c.565G>A, XM_047448115.1:c.565G>A, XM_047448105.1:c.565G>A, XM_047448109.1:c.565G>A, XM_047448102.1:c.565G>A, XM_047448101.1:c.565G>A, XM_047448104.1:c.565G>A, XM_047448108.1:c.565G>A, XM_047448106.1:c.565G>A, XM_047448097.1:c.757G>A, XM_047448114.1:c.565G>A, XM_047448110.1:c.565G>A, XM_047448113.1:c.565G>A, XM_047448112.1:c.565G>A, XM_047448111.1:c.565G>A, XM_047448099.1:c.634G>A, XM_047448107.1:c.565G>A, XM_047448098.1:c.700G>A, XM_047448116.1:c.565G>A, XM_017006381.1:c.565G>A, NP_005569.1:p.Gly189Arg, NP_001161143.1:p.Gly189Arg, NP_001161144.1:p.Gly189Arg, NP_001362386.1:p.Gly189Arg, NP_001374596.1:p.Gly189Arg, NP_001362384.1:p.Gly189Arg, NP_001362385.1:p.Gly189Arg, NP_001374594.1:p.Gly189Arg, NP_001374603.1:p.Gly189Arg, NP_001362389.1:p.Gly189Arg, NP_001374601.1:p.Gly189Arg, NP_001362390.1:p.Gly189Arg, NP_001374593.1:p.Gly189Arg, NP_001374595.1:p.Gly189Arg, NP_001362387.1:p.Gly189Arg, NP_001374600.1:p.Gly189Arg, NP_001374598.1:p.Gly189Arg, NP_001362393.1:p.Gly189Arg, NP_001362391.1:p.Gly189Arg, NP_001362388.1:p.Gly189Arg, NP_001362392.1:p.Gly189Arg, NP_001374602.1:p.Gly189Arg, NP_001362394.1:p.Gly189Arg, NP_001374597.1:p.Gly189Arg, NP_001374592.1:p.Gly189Arg, NP_001374599.1:p.Gly189Arg, NP_001374604.1:p.Gly26Arg, NP_001374605.1:p.Gly26Arg, NP_001374607.1:p.Gly189Arg, NP_001374611.1:p.Gly189Arg, NP_001374610.1:p.Gly189Arg, NP_001374609.1:p.Gly189Arg, NP_001374606.1:p.Gly189Arg, NP_001374612.1:p.Gly189Arg, NP_001374608.1:p.Gly189Arg, XP_011511125.1:p.Gly214Arg, XP_016861867.1:p.Gly189Arg, XP_047304056.1:p.Gly209Arg, XP_047304059.1:p.Gly189Arg, XP_047304071.1:p.Gly189Arg, XP_047304061.1:p.Gly189Arg, XP_047304065.1:p.Gly189Arg, XP_047304058.1:p.Gly189Arg, XP_047304057.1:p.Gly189Arg, XP_047304060.1:p.Gly189Arg, XP_047304064.1:p.Gly189Arg, XP_047304062.1:p.Gly189Arg, XP_047304053.1:p.Gly253Arg, XP_047304070.1:p.Gly189Arg, XP_047304066.1:p.Gly189Arg, XP_047304069.1:p.Gly189Arg, XP_047304068.1:p.Gly189Arg, XP_047304067.1:p.Gly189Arg, XP_047304055.1:p.Gly212Arg, XP_047304063.1:p.Gly189Arg, XP_047304054.1:p.Gly234Arg, XP_047304072.1:p.Gly189Arg, XP_016861870.1:p.Gly189Arg

                                  17.

                                  rs1461645701 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    3:188609755 (GRCh38)
                                    3:188327543 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:188609754:C:A,NC_000003.12:188609754:C:G,NC_000003.12:188609754:C:T
                                    Gene:
                                    LPP (Varview), LOC124906316 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.188609755C>A, NC_000003.12:g.188609755C>G, NC_000003.12:g.188609755C>T, NC_000003.11:g.188327543C>A, NC_000003.11:g.188327543C>G, NC_000003.11:g.188327543C>T, NG_016932.2:g.460881C>A, NG_016932.2:g.460881C>G, NG_016932.2:g.460881C>T, NM_005578.5:c.1024C>A, NM_005578.5:c.1024C>G, NM_005578.5:c.1024C>T, NM_005578.4:c.1024C>A, NM_005578.4:c.1024C>G, NM_005578.4:c.1024C>T, NM_005578.3:c.1024C>A, NM_005578.3:c.1024C>G, NM_005578.3:c.1024C>T, NM_001167671.3:c.1024C>A, NM_001167671.3:c.1024C>G, NM_001167671.3:c.1024C>T, NM_001167671.2:c.1024C>A, NM_001167671.2:c.1024C>G, NM_001167671.2:c.1024C>T, NM_001167671.1:c.1024C>A, NM_001167671.1:c.1024C>G, NM_001167671.1:c.1024C>T, NM_001375457.1:c.1024C>A, NM_001375457.1:c.1024C>G, NM_001375457.1:c.1024C>T, NM_001387667.1:c.1024C>A, NM_001387667.1:c.1024C>G, NM_001387667.1:c.1024C>T, NM_001375455.1:c.1024C>A, NM_001375455.1:c.1024C>G, NM_001375455.1:c.1024C>T, NM_001375456.1:c.1024C>A, NM_001375456.1:c.1024C>G, NM_001375456.1:c.1024C>T, NM_001387665.1:c.1024C>A, NM_001387665.1:c.1024C>G, NM_001387665.1:c.1024C>T, NM_001387674.1:c.1024C>A, NM_001387674.1:c.1024C>G, NM_001387674.1:c.1024C>T, NM_001375460.1:c.1024C>A, NM_001375460.1:c.1024C>G, NM_001375460.1:c.1024C>T, NM_001387672.1:c.1024C>A, NM_001387672.1:c.1024C>G, NM_001387672.1:c.1024C>T, NM_001375461.1:c.1024C>A, NM_001375461.1:c.1024C>G, NM_001375461.1:c.1024C>T, NM_001387664.1:c.1024C>A, NM_001387664.1:c.1024C>G, NM_001387664.1:c.1024C>T, NM_001387666.1:c.1024C>A, NM_001387666.1:c.1024C>G, NM_001387666.1:c.1024C>T, NM_001375458.1:c.1024C>A, NM_001375458.1:c.1024C>G, NM_001375458.1:c.1024C>T, NM_001387671.1:c.1024C>A, NM_001387671.1:c.1024C>G, NM_001387671.1:c.1024C>T, NM_001387669.1:c.1024C>A, NM_001387669.1:c.1024C>G, NM_001387669.1:c.1024C>T, NM_001375464.1:c.1024C>A, NM_001375464.1:c.1024C>G, NM_001375464.1:c.1024C>T, NM_001375462.1:c.1024C>A, NM_001375462.1:c.1024C>G, NM_001375462.1:c.1024C>T, NM_001375459.1:c.1024C>A, NM_001375459.1:c.1024C>G, NM_001375459.1:c.1024C>T, NM_001375463.1:c.1024C>A, NM_001375463.1:c.1024C>G, NM_001375463.1:c.1024C>T, NM_001387673.1:c.1024C>A, NM_001387673.1:c.1024C>G, NM_001387673.1:c.1024C>T, NR_164692.1:n.1280C>A, NR_164692.1:n.1280C>G, NR_164692.1:n.1280C>T, NM_001375465.1:c.1024C>A, NM_001375465.1:c.1024C>G, NM_001375465.1:c.1024C>T, NM_001387668.1:c.1024C>A, NM_001387668.1:c.1024C>G, NM_001387668.1:c.1024C>T, NM_001387663.1:c.1024C>A, NM_001387663.1:c.1024C>G, NM_001387663.1:c.1024C>T, NM_001387670.1:c.1024C>A, NM_001387670.1:c.1024C>G, NM_001387670.1:c.1024C>T, NM_001387675.1:c.535C>A, NM_001387675.1:c.535C>G, NM_001387675.1:c.535C>T, NM_001387676.1:c.535C>A, NM_001387676.1:c.535C>G, NM_001387676.1:c.535C>T, NM_001387678.1:c.1024C>A, NM_001387678.1:c.1024C>G, NM_001387678.1:c.1024C>T, NM_001387682.1:c.1024C>A, NM_001387682.1:c.1024C>G, NM_001387682.1:c.1024C>T, NM_001387681.1:c.1024C>A, NM_001387681.1:c.1024C>G, NM_001387681.1:c.1024C>T, NM_001387680.1:c.1024C>A, NM_001387680.1:c.1024C>G, NM_001387680.1:c.1024C>T, NM_001387677.1:c.1024C>A, NM_001387677.1:c.1024C>G, NM_001387677.1:c.1024C>T, NM_001387683.1:c.1024C>A, NM_001387683.1:c.1024C>G, NM_001387683.1:c.1024C>T, NM_001387679.1:c.1024C>A, NM_001387679.1:c.1024C>G, NM_001387679.1:c.1024C>T, XM_011512823.3:c.1099C>A, XM_011512823.3:c.1099C>G, XM_011512823.3:c.1099C>T, XM_011512823.2:c.1099C>A, XM_011512823.2:c.1099C>G, XM_011512823.2:c.1099C>T, XM_011512823.1:c.1099C>A, XM_011512823.1:c.1099C>G, XM_011512823.1:c.1099C>T, XM_017006378.2:c.1024C>A, XM_017006378.2:c.1024C>G, XM_017006378.2:c.1024C>T, XM_017006378.1:c.1024C>A, XM_017006378.1:c.1024C>G, XM_017006378.1:c.1024C>T, XM_047448100.1:c.1084C>A, XM_047448100.1:c.1084C>G, XM_047448100.1:c.1084C>T, XM_047448103.1:c.1024C>A, XM_047448103.1:c.1024C>G, XM_047448103.1:c.1024C>T, XM_047448115.1:c.1024C>A, XM_047448115.1:c.1024C>G, XM_047448115.1:c.1024C>T, XM_047448105.1:c.1024C>A, XM_047448105.1:c.1024C>G, XM_047448105.1:c.1024C>T, XM_047448109.1:c.1024C>A, XM_047448109.1:c.1024C>G, XM_047448109.1:c.1024C>T, XM_047448102.1:c.1024C>A, XM_047448102.1:c.1024C>G, XM_047448102.1:c.1024C>T, XM_047448101.1:c.1024C>A, XM_047448101.1:c.1024C>G, XM_047448101.1:c.1024C>T, XM_047448104.1:c.1024C>A, XM_047448104.1:c.1024C>G, XM_047448104.1:c.1024C>T, XM_047448108.1:c.1024C>A, XM_047448108.1:c.1024C>G, XM_047448108.1:c.1024C>T, XM_047448106.1:c.1024C>A, XM_047448106.1:c.1024C>G, XM_047448106.1:c.1024C>T, XM_047448097.1:c.1216C>A, XM_047448097.1:c.1216C>G, XM_047448097.1:c.1216C>T, XM_047448114.1:c.1024C>A, XM_047448114.1:c.1024C>G, XM_047448114.1:c.1024C>T, XM_047448110.1:c.1024C>A, XM_047448110.1:c.1024C>G, XM_047448110.1:c.1024C>T, XM_047448113.1:c.1024C>A, XM_047448113.1:c.1024C>G, XM_047448113.1:c.1024C>T, XM_047448112.1:c.1024C>A, XM_047448112.1:c.1024C>G, XM_047448112.1:c.1024C>T, XM_047448111.1:c.1024C>A, XM_047448111.1:c.1024C>G, XM_047448111.1:c.1024C>T, XM_047448099.1:c.1093C>A, XM_047448099.1:c.1093C>G, XM_047448099.1:c.1093C>T, XM_047448107.1:c.1024C>A, XM_047448107.1:c.1024C>G, XM_047448107.1:c.1024C>T, XM_047448098.1:c.1159C>A, XM_047448098.1:c.1159C>G, XM_047448098.1:c.1159C>T, XM_047448116.1:c.1024C>A, XM_047448116.1:c.1024C>G, XM_047448116.1:c.1024C>T, XM_017006381.1:c.1024C>A, XM_017006381.1:c.1024C>G, XM_017006381.1:c.1024C>T, NP_005569.1:p.Pro342Thr, NP_005569.1:p.Pro342Ala, NP_005569.1:p.Pro342Ser, NP_001161143.1:p.Pro342Thr, NP_001161143.1:p.Pro342Ala, NP_001161143.1:p.Pro342Ser, NP_001362386.1:p.Pro342Thr, NP_001362386.1:p.Pro342Ala, NP_001362386.1:p.Pro342Ser, NP_001374596.1:p.Pro342Thr, NP_001374596.1:p.Pro342Ala, NP_001374596.1:p.Pro342Ser, NP_001362384.1:p.Pro342Thr, NP_001362384.1:p.Pro342Ala, NP_001362384.1:p.Pro342Ser, NP_001362385.1:p.Pro342Thr, NP_001362385.1:p.Pro342Ala, NP_001362385.1:p.Pro342Ser, NP_001374594.1:p.Pro342Thr, NP_001374594.1:p.Pro342Ala, NP_001374594.1:p.Pro342Ser, NP_001374603.1:p.Pro342Thr, NP_001374603.1:p.Pro342Ala, NP_001374603.1:p.Pro342Ser, NP_001362389.1:p.Pro342Thr, NP_001362389.1:p.Pro342Ala, NP_001362389.1:p.Pro342Ser, NP_001374601.1:p.Pro342Thr, NP_001374601.1:p.Pro342Ala, NP_001374601.1:p.Pro342Ser, NP_001362390.1:p.Pro342Thr, NP_001362390.1:p.Pro342Ala, NP_001362390.1:p.Pro342Ser, NP_001374593.1:p.Pro342Thr, NP_001374593.1:p.Pro342Ala, NP_001374593.1:p.Pro342Ser, NP_001374595.1:p.Pro342Thr, NP_001374595.1:p.Pro342Ala, NP_001374595.1:p.Pro342Ser, NP_001362387.1:p.Pro342Thr, NP_001362387.1:p.Pro342Ala, NP_001362387.1:p.Pro342Ser, NP_001374600.1:p.Pro342Thr, NP_001374600.1:p.Pro342Ala, NP_001374600.1:p.Pro342Ser, NP_001374598.1:p.Pro342Thr, NP_001374598.1:p.Pro342Ala, NP_001374598.1:p.Pro342Ser, NP_001362393.1:p.Pro342Thr, NP_001362393.1:p.Pro342Ala, NP_001362393.1:p.Pro342Ser, NP_001362391.1:p.Pro342Thr, NP_001362391.1:p.Pro342Ala, NP_001362391.1:p.Pro342Ser, NP_001362388.1:p.Pro342Thr, NP_001362388.1:p.Pro342Ala, NP_001362388.1:p.Pro342Ser, NP_001362392.1:p.Pro342Thr, NP_001362392.1:p.Pro342Ala, NP_001362392.1:p.Pro342Ser, NP_001374602.1:p.Pro342Thr, NP_001374602.1:p.Pro342Ala, NP_001374602.1:p.Pro342Ser, NP_001362394.1:p.Pro342Thr, NP_001362394.1:p.Pro342Ala, NP_001362394.1:p.Pro342Ser, NP_001374597.1:p.Pro342Thr, NP_001374597.1:p.Pro342Ala, NP_001374597.1:p.Pro342Ser, NP_001374592.1:p.Pro342Thr, NP_001374592.1:p.Pro342Ala, NP_001374592.1:p.Pro342Ser, NP_001374599.1:p.Pro342Thr, NP_001374599.1:p.Pro342Ala, NP_001374599.1:p.Pro342Ser, NP_001374604.1:p.Pro179Thr, NP_001374604.1:p.Pro179Ala, NP_001374604.1:p.Pro179Ser, NP_001374605.1:p.Pro179Thr, NP_001374605.1:p.Pro179Ala, NP_001374605.1:p.Pro179Ser, NP_001374607.1:p.Pro342Thr, NP_001374607.1:p.Pro342Ala, NP_001374607.1:p.Pro342Ser, NP_001374611.1:p.Pro342Thr, NP_001374611.1:p.Pro342Ala, NP_001374611.1:p.Pro342Ser, NP_001374610.1:p.Pro342Thr, NP_001374610.1:p.Pro342Ala, NP_001374610.1:p.Pro342Ser, NP_001374609.1:p.Pro342Thr, NP_001374609.1:p.Pro342Ala, NP_001374609.1:p.Pro342Ser, NP_001374606.1:p.Pro342Thr, NP_001374606.1:p.Pro342Ala, NP_001374606.1:p.Pro342Ser, NP_001374612.1:p.Pro342Thr, NP_001374612.1:p.Pro342Ala, NP_001374612.1:p.Pro342Ser, NP_001374608.1:p.Pro342Thr, NP_001374608.1:p.Pro342Ala, NP_001374608.1:p.Pro342Ser, XP_011511125.1:p.Pro367Thr, XP_011511125.1:p.Pro367Ala, XP_011511125.1:p.Pro367Ser, XP_016861867.1:p.Pro342Thr, XP_016861867.1:p.Pro342Ala, XP_016861867.1:p.Pro342Ser, XP_047304056.1:p.Pro362Thr, XP_047304056.1:p.Pro362Ala, XP_047304056.1:p.Pro362Ser, XP_047304059.1:p.Pro342Thr, XP_047304059.1:p.Pro342Ala, XP_047304059.1:p.Pro342Ser, XP_047304071.1:p.Pro342Thr, XP_047304071.1:p.Pro342Ala, XP_047304071.1:p.Pro342Ser, XP_047304061.1:p.Pro342Thr, XP_047304061.1:p.Pro342Ala, XP_047304061.1:p.Pro342Ser, XP_047304065.1:p.Pro342Thr, XP_047304065.1:p.Pro342Ala, XP_047304065.1:p.Pro342Ser, XP_047304058.1:p.Pro342Thr, XP_047304058.1:p.Pro342Ala, XP_047304058.1:p.Pro342Ser, XP_047304057.1:p.Pro342Thr, XP_047304057.1:p.Pro342Ala, XP_047304057.1:p.Pro342Ser, XP_047304060.1:p.Pro342Thr, XP_047304060.1:p.Pro342Ala, XP_047304060.1:p.Pro342Ser, XP_047304064.1:p.Pro342Thr, XP_047304064.1:p.Pro342Ala, XP_047304064.1:p.Pro342Ser, XP_047304062.1:p.Pro342Thr, XP_047304062.1:p.Pro342Ala, XP_047304062.1:p.Pro342Ser, XP_047304053.1:p.Pro406Thr, XP_047304053.1:p.Pro406Ala, XP_047304053.1:p.Pro406Ser, XP_047304070.1:p.Pro342Thr, XP_047304070.1:p.Pro342Ala, XP_047304070.1:p.Pro342Ser, XP_047304066.1:p.Pro342Thr, XP_047304066.1:p.Pro342Ala, XP_047304066.1:p.Pro342Ser, XP_047304069.1:p.Pro342Thr, XP_047304069.1:p.Pro342Ala, XP_047304069.1:p.Pro342Ser, XP_047304068.1:p.Pro342Thr, XP_047304068.1:p.Pro342Ala, XP_047304068.1:p.Pro342Ser, XP_047304067.1:p.Pro342Thr, XP_047304067.1:p.Pro342Ala, XP_047304067.1:p.Pro342Ser, XP_047304055.1:p.Pro365Thr, XP_047304055.1:p.Pro365Ala, XP_047304055.1:p.Pro365Ser, XP_047304063.1:p.Pro342Thr, XP_047304063.1:p.Pro342Ala, XP_047304063.1:p.Pro342Ser, XP_047304054.1:p.Pro387Thr, XP_047304054.1:p.Pro387Ala, XP_047304054.1:p.Pro387Ser, XP_047304072.1:p.Pro342Thr, XP_047304072.1:p.Pro342Ala, XP_047304072.1:p.Pro342Ser, XP_016861870.1:p.Pro342Thr, XP_016861870.1:p.Pro342Ala, XP_016861870.1:p.Pro342Ser

                                    18.

                                    rs1461239824 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      3:188609500 (GRCh38)
                                      3:188327288 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:188609499:C:G
                                      Gene:
                                      LPP (Varview), LOC124906316 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.188609500C>G, NC_000003.11:g.188327288C>G, NG_016932.2:g.460626C>G, NM_005578.5:c.769C>G, NM_005578.4:c.769C>G, NM_005578.3:c.769C>G, NM_001167671.3:c.769C>G, NM_001167671.2:c.769C>G, NM_001167671.1:c.769C>G, NM_001375457.1:c.769C>G, NM_001387667.1:c.769C>G, NM_001375455.1:c.769C>G, NM_001375456.1:c.769C>G, NM_001387665.1:c.769C>G, NM_001387674.1:c.769C>G, NM_001375460.1:c.769C>G, NM_001387672.1:c.769C>G, NM_001375461.1:c.769C>G, NM_001387664.1:c.769C>G, NM_001387666.1:c.769C>G, NM_001375458.1:c.769C>G, NM_001387671.1:c.769C>G, NM_001387669.1:c.769C>G, NM_001375464.1:c.769C>G, NM_001375462.1:c.769C>G, NM_001375459.1:c.769C>G, NM_001375463.1:c.769C>G, NM_001387673.1:c.769C>G, NR_164692.1:n.1025C>G, NM_001375465.1:c.769C>G, NM_001387668.1:c.769C>G, NM_001387663.1:c.769C>G, NM_001387670.1:c.769C>G, NM_001387675.1:c.280C>G, NM_001387676.1:c.280C>G, NM_001387678.1:c.769C>G, NM_001387682.1:c.769C>G, NM_001387681.1:c.769C>G, NM_001387680.1:c.769C>G, NM_001387677.1:c.769C>G, NM_001387683.1:c.769C>G, NM_001387679.1:c.769C>G, XM_011512823.3:c.844C>G, XM_011512823.2:c.844C>G, XM_011512823.1:c.844C>G, XM_017006378.2:c.769C>G, XM_017006378.1:c.769C>G, XM_047448100.1:c.829C>G, XM_047448103.1:c.769C>G, XM_047448115.1:c.769C>G, XM_047448105.1:c.769C>G, XM_047448109.1:c.769C>G, XM_047448102.1:c.769C>G, XM_047448101.1:c.769C>G, XM_047448104.1:c.769C>G, XM_047448108.1:c.769C>G, XM_047448106.1:c.769C>G, XM_047448097.1:c.961C>G, XM_047448114.1:c.769C>G, XM_047448110.1:c.769C>G, XM_047448113.1:c.769C>G, XM_047448112.1:c.769C>G, XM_047448111.1:c.769C>G, XM_047448099.1:c.838C>G, XM_047448107.1:c.769C>G, XM_047448098.1:c.904C>G, XM_047448116.1:c.769C>G, XM_017006381.1:c.769C>G, NP_005569.1:p.Pro257Ala, NP_001161143.1:p.Pro257Ala, NP_001362386.1:p.Pro257Ala, NP_001374596.1:p.Pro257Ala, NP_001362384.1:p.Pro257Ala, NP_001362385.1:p.Pro257Ala, NP_001374594.1:p.Pro257Ala, NP_001374603.1:p.Pro257Ala, NP_001362389.1:p.Pro257Ala, NP_001374601.1:p.Pro257Ala, NP_001362390.1:p.Pro257Ala, NP_001374593.1:p.Pro257Ala, NP_001374595.1:p.Pro257Ala, NP_001362387.1:p.Pro257Ala, NP_001374600.1:p.Pro257Ala, NP_001374598.1:p.Pro257Ala, NP_001362393.1:p.Pro257Ala, NP_001362391.1:p.Pro257Ala, NP_001362388.1:p.Pro257Ala, NP_001362392.1:p.Pro257Ala, NP_001374602.1:p.Pro257Ala, NP_001362394.1:p.Pro257Ala, NP_001374597.1:p.Pro257Ala, NP_001374592.1:p.Pro257Ala, NP_001374599.1:p.Pro257Ala, NP_001374604.1:p.Pro94Ala, NP_001374605.1:p.Pro94Ala, NP_001374607.1:p.Pro257Ala, NP_001374611.1:p.Pro257Ala, NP_001374610.1:p.Pro257Ala, NP_001374609.1:p.Pro257Ala, NP_001374606.1:p.Pro257Ala, NP_001374612.1:p.Pro257Ala, NP_001374608.1:p.Pro257Ala, XP_011511125.1:p.Pro282Ala, XP_016861867.1:p.Pro257Ala, XP_047304056.1:p.Pro277Ala, XP_047304059.1:p.Pro257Ala, XP_047304071.1:p.Pro257Ala, XP_047304061.1:p.Pro257Ala, XP_047304065.1:p.Pro257Ala, XP_047304058.1:p.Pro257Ala, XP_047304057.1:p.Pro257Ala, XP_047304060.1:p.Pro257Ala, XP_047304064.1:p.Pro257Ala, XP_047304062.1:p.Pro257Ala, XP_047304053.1:p.Pro321Ala, XP_047304070.1:p.Pro257Ala, XP_047304066.1:p.Pro257Ala, XP_047304069.1:p.Pro257Ala, XP_047304068.1:p.Pro257Ala, XP_047304067.1:p.Pro257Ala, XP_047304055.1:p.Pro280Ala, XP_047304063.1:p.Pro257Ala, XP_047304054.1:p.Pro302Ala, XP_047304072.1:p.Pro257Ala, XP_016861870.1:p.Pro257Ala

                                      19.

                                      rs1461101344 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        3:188609733 (GRCh38)
                                        3:188327521 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:188609732:T:G
                                        Gene:
                                        LPP (Varview), LOC124906316 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000546/1 (Korea1K)
                                        HGVS:
                                        NC_000003.12:g.188609733T>G, NC_000003.11:g.188327521T>G, NG_016932.2:g.460859T>G, NM_005578.5:c.1002T>G, NM_005578.4:c.1002T>G, NM_005578.3:c.1002T>G, NM_001167671.3:c.1002T>G, NM_001167671.2:c.1002T>G, NM_001167671.1:c.1002T>G, NM_001375457.1:c.1002T>G, NM_001387667.1:c.1002T>G, NM_001375455.1:c.1002T>G, NM_001375456.1:c.1002T>G, NM_001387665.1:c.1002T>G, NM_001387674.1:c.1002T>G, NM_001375460.1:c.1002T>G, NM_001387672.1:c.1002T>G, NM_001375461.1:c.1002T>G, NM_001387664.1:c.1002T>G, NM_001387666.1:c.1002T>G, NM_001375458.1:c.1002T>G, NM_001387671.1:c.1002T>G, NM_001387669.1:c.1002T>G, NM_001375464.1:c.1002T>G, NM_001375462.1:c.1002T>G, NM_001375459.1:c.1002T>G, NM_001375463.1:c.1002T>G, NM_001387673.1:c.1002T>G, NR_164692.1:n.1258T>G, NM_001375465.1:c.1002T>G, NM_001387668.1:c.1002T>G, NM_001387663.1:c.1002T>G, NM_001387670.1:c.1002T>G, NM_001387675.1:c.513T>G, NM_001387676.1:c.513T>G, NM_001387678.1:c.1002T>G, NM_001387682.1:c.1002T>G, NM_001387681.1:c.1002T>G, NM_001387680.1:c.1002T>G, NM_001387677.1:c.1002T>G, NM_001387683.1:c.1002T>G, NM_001387679.1:c.1002T>G, XM_011512823.3:c.1077T>G, XM_011512823.2:c.1077T>G, XM_011512823.1:c.1077T>G, XM_017006378.2:c.1002T>G, XM_017006378.1:c.1002T>G, XM_047448100.1:c.1062T>G, XM_047448103.1:c.1002T>G, XM_047448115.1:c.1002T>G, XM_047448105.1:c.1002T>G, XM_047448109.1:c.1002T>G, XM_047448102.1:c.1002T>G, XM_047448101.1:c.1002T>G, XM_047448104.1:c.1002T>G, XM_047448108.1:c.1002T>G, XM_047448106.1:c.1002T>G, XM_047448097.1:c.1194T>G, XM_047448114.1:c.1002T>G, XM_047448110.1:c.1002T>G, XM_047448113.1:c.1002T>G, XM_047448112.1:c.1002T>G, XM_047448111.1:c.1002T>G, XM_047448099.1:c.1071T>G, XM_047448107.1:c.1002T>G, XM_047448098.1:c.1137T>G, XM_047448116.1:c.1002T>G, XM_017006381.1:c.1002T>G

                                        20.

                                        rs1458002732 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:188708365 (GRCh38)
                                          3:188426153 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:188708364:G:A
                                          Gene:
                                          LPP (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000003.12:g.188708365G>A, NC_000003.11:g.188426153G>A, NG_016932.2:g.559491G>A, NM_005578.5:c.1212G>A, NM_005578.4:c.1212G>A, NM_005578.3:c.1212G>A, NM_001167671.3:c.1212G>A, NM_001167671.2:c.1212G>A, NM_001167671.1:c.1212G>A, NM_001167672.3:c.771G>A, NM_001167672.2:c.771G>A, NM_001167672.1:c.771G>A, NM_001375457.1:c.1212G>A, NM_001387667.1:c.1212G>A, NM_001375455.1:c.1212G>A, NM_001375456.1:c.1212G>A, NM_001387665.1:c.1212G>A, NM_001387674.1:c.1212G>A, NM_001375460.1:c.1212G>A, NM_001387672.1:c.1212G>A, NM_001375461.1:c.1212G>A, NM_001387664.1:c.1212G>A, NM_001387666.1:c.1212G>A, NM_001375458.1:c.1212G>A, NM_001387671.1:c.1212G>A, NM_001387669.1:c.1212G>A, NM_001375464.1:c.1212G>A, NM_001375462.1:c.1212G>A, NM_001375459.1:c.1212G>A, NM_001375463.1:c.1212G>A, NM_001387673.1:c.1212G>A, NM_001375465.1:c.1212G>A, NM_001387668.1:c.1212G>A, NM_001387663.1:c.1212G>A, NM_001387670.1:c.1212G>A, NM_001387675.1:c.723G>A, NM_001387676.1:c.723G>A, XM_011512823.3:c.1287G>A, XM_011512823.2:c.1287G>A, XM_011512823.1:c.1287G>A, XM_017006378.2:c.1212G>A, XM_017006378.1:c.1212G>A, XM_047448100.1:c.1272G>A, XM_047448103.1:c.1212G>A, XM_047448115.1:c.1212G>A, XM_047448105.1:c.1212G>A, XM_047448109.1:c.1212G>A, XM_047448102.1:c.1212G>A, XM_047448101.1:c.1212G>A, XM_047448104.1:c.1212G>A, XM_047448108.1:c.1212G>A, XM_047448106.1:c.1212G>A, XM_047448097.1:c.1404G>A, XM_047448114.1:c.1212G>A, XM_047448110.1:c.1212G>A, XM_047448113.1:c.1212G>A, XM_047448112.1:c.1212G>A, XM_047448111.1:c.1212G>A, XM_047448099.1:c.1281G>A, XM_047448107.1:c.1212G>A, XM_047448098.1:c.1347G>A, XM_047448116.1:c.1212G>A, XM_017006381.1:c.1212G>A, NP_005569.1:p.Met404Ile, NP_001161143.1:p.Met404Ile, NP_001161144.1:p.Met257Ile, NP_001362386.1:p.Met404Ile, NP_001374596.1:p.Met404Ile, NP_001362384.1:p.Met404Ile, NP_001362385.1:p.Met404Ile, NP_001374594.1:p.Met404Ile, NP_001374603.1:p.Met404Ile, NP_001362389.1:p.Met404Ile, NP_001374601.1:p.Met404Ile, NP_001362390.1:p.Met404Ile, NP_001374593.1:p.Met404Ile, NP_001374595.1:p.Met404Ile, NP_001362387.1:p.Met404Ile, NP_001374600.1:p.Met404Ile, NP_001374598.1:p.Met404Ile, NP_001362393.1:p.Met404Ile, NP_001362391.1:p.Met404Ile, NP_001362388.1:p.Met404Ile, NP_001362392.1:p.Met404Ile, NP_001374602.1:p.Met404Ile, NP_001362394.1:p.Met404Ile, NP_001374597.1:p.Met404Ile, NP_001374592.1:p.Met404Ile, NP_001374599.1:p.Met404Ile, NP_001374604.1:p.Met241Ile, NP_001374605.1:p.Met241Ile, XP_011511125.1:p.Met429Ile, XP_016861867.1:p.Met404Ile, XP_047304056.1:p.Met424Ile, XP_047304059.1:p.Met404Ile, XP_047304071.1:p.Met404Ile, XP_047304061.1:p.Met404Ile, XP_047304065.1:p.Met404Ile, XP_047304058.1:p.Met404Ile, XP_047304057.1:p.Met404Ile, XP_047304060.1:p.Met404Ile, XP_047304064.1:p.Met404Ile, XP_047304062.1:p.Met404Ile, XP_047304053.1:p.Met468Ile, XP_047304070.1:p.Met404Ile, XP_047304066.1:p.Met404Ile, XP_047304069.1:p.Met404Ile, XP_047304068.1:p.Met404Ile, XP_047304067.1:p.Met404Ile, XP_047304055.1:p.Met427Ile, XP_047304063.1:p.Met404Ile, XP_047304054.1:p.Met449Ile, XP_047304072.1:p.Met404Ile, XP_016861870.1:p.Met404Ile

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...