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Items: 1 to 20 of 963

1.

rs1489392536 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:41352671 (GRCh38)
    20:39981311 (GRCh37)
    Canonical SPDI:
    NC_000020.11:41352670:C:T
    Gene:
    LPIN3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_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_000020.11:g.41352671C>T, NC_000020.10:g.39981311C>T, XM_011528997.4:c.1432C>T, XM_011528997.3:c.1432C>T, XM_011528997.2:c.1432C>T, XM_011528997.1:c.1432C>T, XM_011528999.4:c.1432C>T, XM_011528999.3:c.1432C>T, XM_011528999.2:c.1432C>T, XM_011528999.1:c.1432C>T, XM_011528998.4:c.1432C>T, XM_011528998.3:c.1432C>T, XM_011528998.2:c.1432C>T, XM_011528998.1:c.1432C>T, XM_011529002.4:c.1036C>T, XM_011529002.3:c.1036C>T, XM_011529002.2:c.1036C>T, XM_011529002.1:c.1036C>T, XM_011528996.3:c.1432C>T, XM_011528996.2:c.1432C>T, XM_011528996.1:c.1432C>T, XM_011529000.3:c.1429C>T, XM_011529000.2:c.1429C>T, XM_011529000.1:c.1429C>T, NM_022896.3:c.1429C>T, NM_022896.2:c.1429C>T, NM_022896.1:c.1429C>T, XM_011529001.3:c.1432C>T, XM_011529001.2:c.1432C>T, XM_011529001.1:c.1432C>T, XR_936610.3:n.1622C>T, XR_936610.2:n.1588C>T, XR_936610.1:n.1588C>T, XM_011529005.3:c.1432C>T, XM_011529005.2:c.1432C>T, XM_011529005.1:c.1432C>T, XM_006723863.3:c.*89C>T, XM_006723863.2:c.*89C>T, XM_011529006.3:c.*57C>T, XM_011529006.2:c.*57C>T, XM_011529006.1:c.*57C>T, XM_005260516.3:c.*2C>T, XM_005260516.2:c.*2C>T, XM_005260516.1:c.*2C>T, NM_001301860.2:c.1432C>T, NM_001301860.1:c.1432C>T, NR_126051.2:n.1622C>T, NR_126051.1:n.1590C>T, XM_011529003.2:c.1432C>T, XM_011529003.1:c.1432C>T, XM_011529004.2:c.1432C>T, XM_011529004.1:c.1432C>T, XR_430311.2:n.1622C>T, XR_430311.1:n.1588C>T, XM_047440384.1:c.1432C>T, XM_047440386.1:c.1429C>T, XM_047440383.1:c.1429C>T, XM_047440385.1:c.1432C>T, XM_047440387.1:c.1429C>T, XM_047440388.1:c.1429C>T, XR_007067476.1:n.1622C>T, XM_047440389.1:c.1432C>T, XP_011527299.1:p.Pro478Ser, XP_011527301.1:p.Pro478Ser, XP_011527300.1:p.Pro478Ser, XP_011527304.1:p.Pro346Ser, XP_011527298.1:p.Pro478Ser, XP_011527302.1:p.Pro477Ser, NP_075047.1:p.Pro477Ser, XP_011527303.1:p.Pro478Ser, XP_011527307.1:p.Pro478Ser, NP_001288789.1:p.Pro478Ser, XP_011527305.1:p.Pro478Ser, XP_011527306.1:p.Pro478Ser, XP_047296340.1:p.Pro478Ser, XP_047296342.1:p.Pro477Ser, XP_047296339.1:p.Pro477Ser, XP_047296341.1:p.Pro478Ser, XP_047296343.1:p.Pro477Ser, XP_047296344.1:p.Pro477Ser, XP_047296345.1:p.Pro478Ser

    2.

    rs1489344186 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      20:41348631 (GRCh38)
      20:39977271 (GRCh37)
      Canonical SPDI:
      NC_000020.11:41348630:CCC:CC
      Gene:
      LPIN3 (Varview)
      Functional Consequence:
      coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.41348633del, NC_000020.10:g.39977273del, XM_011528997.4:c.303del, XM_011528997.3:c.303del, XM_011528997.2:c.303del, XM_011528997.1:c.303del, XM_011528999.4:c.303del, XM_011528999.3:c.303del, XM_011528999.2:c.303del, XM_011528999.1:c.303del, XM_011528998.4:c.303del, XM_011528998.3:c.303del, XM_011528998.2:c.303del, XM_011528998.1:c.303del, XM_011529002.4:c.-94del, XM_011529002.3:c.-94del, XM_011529002.2:c.-94del, XM_011529002.1:c.-94del, XM_011528996.3:c.303del, XM_011528996.2:c.303del, XM_011528996.1:c.303del, XM_011529000.3:c.303del, XM_011529000.2:c.303del, XM_011529000.1:c.303del, NM_022896.3:c.303del, NM_022896.2:c.303del, NM_022896.1:c.303del, XM_011529001.3:c.303del, XM_011529001.2:c.303del, XM_011529001.1:c.303del, XR_936610.3:n.493del, XR_936610.2:n.459del, XR_936610.1:n.459del, XM_011529005.3:c.303del, XM_011529005.2:c.303del, XM_011529005.1:c.303del, XM_006723863.3:c.303del, XM_006723863.2:c.303del, XM_006723863.1:c.303del, XM_011529006.3:c.303del, XM_011529006.2:c.303del, XM_011529006.1:c.303del, XM_005260516.3:c.303del, XM_005260516.2:c.303del, XM_005260516.1:c.303del, NM_001301860.2:c.303del, NM_001301860.1:c.303del, NR_126051.2:n.493del, NR_126051.1:n.461del, XM_011529003.2:c.303del, XM_011529003.1:c.303del, XM_011529004.2:c.303del, XM_011529004.1:c.303del, XR_430311.2:n.493del, XR_430311.1:n.459del, XM_047440384.1:c.303del, XM_047440386.1:c.303del, XM_047440383.1:c.303del, XM_047440385.1:c.303del, XM_047440387.1:c.303del, XM_047440388.1:c.303del, XR_007067476.1:n.493del, XM_047440389.1:c.303del, XP_011527299.1:p.Gly102fs, XP_011527301.1:p.Gly102fs, XP_011527300.1:p.Gly102fs, XP_011527298.1:p.Gly102fs, XP_011527302.1:p.Gly102fs, NP_075047.1:p.Gly102fs, XP_011527303.1:p.Gly102fs, XP_011527307.1:p.Gly102fs, XP_006723926.1:p.Gly102fs, XP_011527308.1:p.Gly102fs, XP_005260573.1:p.Gly102fs, NP_001288789.1:p.Gly102fs, XP_011527305.1:p.Gly102fs, XP_011527306.1:p.Gly102fs, XP_047296340.1:p.Gly102fs, XP_047296342.1:p.Gly102fs, XP_047296339.1:p.Gly102fs, XP_047296341.1:p.Gly102fs, XP_047296343.1:p.Gly102fs, XP_047296344.1:p.Gly102fs, XP_047296345.1:p.Gly102fs

      3.

      rs1488465667 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        20:41351856 (GRCh38)
        20:39980496 (GRCh37)
        Canonical SPDI:
        NC_000020.11:41351855:G:C
        Gene:
        LPIN3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000047/1 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.41351856G>C, NC_000020.10:g.39980496G>C, XM_011528997.4:c.1141G>C, XM_011528997.3:c.1141G>C, XM_011528997.2:c.1141G>C, XM_011528997.1:c.1141G>C, XM_011528999.4:c.1141G>C, XM_011528999.3:c.1141G>C, XM_011528999.2:c.1141G>C, XM_011528999.1:c.1141G>C, XM_011528998.4:c.1141G>C, XM_011528998.3:c.1141G>C, XM_011528998.2:c.1141G>C, XM_011528998.1:c.1141G>C, XM_011529002.4:c.745G>C, XM_011529002.3:c.745G>C, XM_011529002.2:c.745G>C, XM_011529002.1:c.745G>C, XM_011528996.3:c.1141G>C, XM_011528996.2:c.1141G>C, XM_011528996.1:c.1141G>C, XM_011529000.3:c.1138G>C, XM_011529000.2:c.1138G>C, XM_011529000.1:c.1138G>C, NM_022896.3:c.1138G>C, NM_022896.2:c.1138G>C, NM_022896.1:c.1138G>C, XM_011529001.3:c.1141G>C, XM_011529001.2:c.1141G>C, XM_011529001.1:c.1141G>C, XR_936610.3:n.1331G>C, XR_936610.2:n.1297G>C, XR_936610.1:n.1297G>C, XM_011529005.3:c.1141G>C, XM_011529005.2:c.1141G>C, XM_011529005.1:c.1141G>C, XM_006723863.3:c.1141G>C, XM_006723863.2:c.1141G>C, XM_006723863.1:c.1141G>C, XM_011529006.3:c.1141G>C, XM_011529006.2:c.1141G>C, XM_011529006.1:c.1141G>C, XM_005260516.3:c.1141G>C, XM_005260516.2:c.1141G>C, XM_005260516.1:c.1141G>C, NM_001301860.2:c.1141G>C, NM_001301860.1:c.1141G>C, NR_126051.2:n.1331G>C, NR_126051.1:n.1299G>C, XM_011529003.2:c.1141G>C, XM_011529003.1:c.1141G>C, XM_011529004.2:c.1141G>C, XM_011529004.1:c.1141G>C, XR_430311.2:n.1331G>C, XR_430311.1:n.1297G>C, XM_047440384.1:c.1141G>C, XM_047440386.1:c.1138G>C, XM_047440383.1:c.1138G>C, XM_047440385.1:c.1141G>C, XM_047440387.1:c.1138G>C, XM_047440388.1:c.1138G>C, XR_007067476.1:n.1331G>C, XM_047440389.1:c.1141G>C, XP_011527299.1:p.Asp381His, XP_011527301.1:p.Asp381His, XP_011527300.1:p.Asp381His, XP_011527304.1:p.Asp249His, XP_011527298.1:p.Asp381His, XP_011527302.1:p.Asp380His, NP_075047.1:p.Asp380His, XP_011527303.1:p.Asp381His, XP_011527307.1:p.Asp381His, XP_006723926.1:p.Asp381His, XP_011527308.1:p.Asp381His, XP_005260573.1:p.Asp381His, NP_001288789.1:p.Asp381His, XP_011527305.1:p.Asp381His, XP_011527306.1:p.Asp381His, XP_047296340.1:p.Asp381His, XP_047296342.1:p.Asp380His, XP_047296339.1:p.Asp380His, XP_047296341.1:p.Asp381His, XP_047296343.1:p.Asp380His, XP_047296344.1:p.Asp380His, XP_047296345.1:p.Asp381His

        4.

        rs1487509333 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          20:41354685 (GRCh38)
          20:39983325 (GRCh37)
          Canonical SPDI:
          NC_000020.11:41354684:A:G
          Gene:
          LPIN3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.41354685A>G, NC_000020.10:g.39983325A>G, XM_011528997.4:c.1571A>G, XM_011528997.3:c.1571A>G, XM_011528997.2:c.1571A>G, XM_011528997.1:c.1571A>G, XM_011528999.4:c.1571A>G, XM_011528999.3:c.1571A>G, XM_011528999.2:c.1571A>G, XM_011528999.1:c.1571A>G, XM_011528998.4:c.1571A>G, XM_011528998.3:c.1571A>G, XM_011528998.2:c.1571A>G, XM_011528998.1:c.1571A>G, XM_011529002.4:c.1175A>G, XM_011529002.3:c.1175A>G, XM_011529002.2:c.1175A>G, XM_011529002.1:c.1175A>G, XM_011528996.3:c.1571A>G, XM_011528996.2:c.1571A>G, XM_011528996.1:c.1571A>G, XM_011529000.3:c.1568A>G, XM_011529000.2:c.1568A>G, XM_011529000.1:c.1568A>G, NM_022896.3:c.1568A>G, NM_022896.2:c.1568A>G, NM_022896.1:c.1568A>G, XM_011529001.3:c.1571A>G, XM_011529001.2:c.1571A>G, XM_011529001.1:c.1571A>G, XR_936610.3:n.1761A>G, XR_936610.2:n.1727A>G, XR_936610.1:n.1727A>G, XM_011529005.3:c.1571A>G, XM_011529005.2:c.1571A>G, XM_011529005.1:c.1571A>G, NM_001301860.2:c.1571A>G, NM_001301860.1:c.1571A>G, NR_126051.2:n.1761A>G, NR_126051.1:n.1729A>G, XM_011529003.2:c.1571A>G, XM_011529003.1:c.1571A>G, XM_011529004.2:c.1571A>G, XM_011529004.1:c.1571A>G, XR_430311.2:n.1761A>G, XR_430311.1:n.1727A>G, XM_047440384.1:c.1571A>G, XM_047440386.1:c.1568A>G, XM_047440383.1:c.1568A>G, XM_047440385.1:c.1571A>G, XM_047440387.1:c.1568A>G, XM_047440388.1:c.1568A>G, XR_007067476.1:n.1761A>G, XM_047440389.1:c.1571A>G, XP_011527299.1:p.Lys524Arg, XP_011527301.1:p.Lys524Arg, XP_011527300.1:p.Lys524Arg, XP_011527304.1:p.Lys392Arg, XP_011527298.1:p.Lys524Arg, XP_011527302.1:p.Lys523Arg, NP_075047.1:p.Lys523Arg, XP_011527303.1:p.Lys524Arg, XP_011527307.1:p.Lys524Arg, NP_001288789.1:p.Lys524Arg, XP_011527305.1:p.Lys524Arg, XP_011527306.1:p.Lys524Arg, XP_047296340.1:p.Lys524Arg, XP_047296342.1:p.Lys523Arg, XP_047296339.1:p.Lys523Arg, XP_047296341.1:p.Lys524Arg, XP_047296343.1:p.Lys523Arg, XP_047296344.1:p.Lys523Arg, XP_047296345.1:p.Lys524Arg

          5.

          rs1486365001 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            20:41358488 (GRCh38)
            20:39987128 (GRCh37)
            Canonical SPDI:
            NC_000020.11:41358485:CACA:CA
            Gene:
            LPIN3 (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
            Validated:
            by frequency
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.41358486CA[1], NC_000020.10:g.39987126CA[1], XM_011528997.4:c.2528_2529del, XM_011528997.3:c.2528_2529del, XM_011528997.2:c.2528_2529del, XM_011528997.1:c.2528_2529del, XM_011528999.4:c.2528_2529del, XM_011528999.3:c.2528_2529del, XM_011528999.2:c.2528_2529del, XM_011528999.1:c.2528_2529del, XM_011528998.4:c.2528_2529del, XM_011528998.3:c.2528_2529del, XM_011528998.2:c.2528_2529del, XM_011528998.1:c.2528_2529del, XM_011529002.4:c.2132_2133del, XM_011529002.3:c.2132_2133del, XM_011529002.2:c.2132_2133del, XM_011529002.1:c.2132_2133del, XM_011528996.3:c.2528_2529del, XM_011528996.2:c.2528_2529del, XM_011528996.1:c.2528_2529del, XM_011529000.3:c.2525_2526del, XM_011529000.2:c.2525_2526del, XM_011529000.1:c.2525_2526del, NM_022896.3:c.2357_2358del, NM_022896.2:c.2357_2358del, NM_022896.1:c.2357_2358del, XM_011529001.3:c.2207_2208del, XM_011529001.2:c.2207_2208del, XM_011529001.1:c.2207_2208del, NM_001301860.2:c.2360_2361del, NM_001301860.1:c.2360_2361del, NR_126051.2:n.2466CA[1], NR_126051.1:n.2434CA[1], XR_430311.2:n.2471CA[1], XR_430311.1:n.2437CA[1], XM_047440384.1:c.2360_2361del, XM_047440386.1:c.2357_2358del, XM_047440383.1:c.2525_2526del, XM_047440385.1:c.2360_2361del, XM_047440387.1:c.2357_2358del, XM_047440388.1:c.2204_2205del, XP_011527299.1:p.Thr843fs, XP_011527301.1:p.Thr843fs, XP_011527300.1:p.Thr843fs, XP_011527304.1:p.Thr711fs, XP_011527298.1:p.Thr843fs, XP_011527302.1:p.Thr842fs, NP_075047.1:p.Thr786fs, XP_011527303.1:p.Thr736fs, NP_001288789.1:p.Thr787fs, XP_047296340.1:p.Thr787fs, XP_047296342.1:p.Thr786fs, XP_047296339.1:p.Thr842fs, XP_047296341.1:p.Thr787fs, XP_047296343.1:p.Thr786fs, XP_047296344.1:p.Thr735fs

            6.

            rs1484543381 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:41354834 (GRCh38)
              20:39983474 (GRCh37)
              Canonical SPDI:
              NC_000020.11:41354833:G:A
              Gene:
              LPIN3 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.41354834G>A, NC_000020.10:g.39983474G>A, XM_011528997.4:c.1638G>A, XM_011528997.3:c.1638G>A, XM_011528997.2:c.1638G>A, XM_011528997.1:c.1638G>A, XM_011528999.4:c.1638G>A, XM_011528999.3:c.1638G>A, XM_011528999.2:c.1638G>A, XM_011528999.1:c.1638G>A, XM_011528998.4:c.1638G>A, XM_011528998.3:c.1638G>A, XM_011528998.2:c.1638G>A, XM_011528998.1:c.1638G>A, XM_011529002.4:c.1242G>A, XM_011529002.3:c.1242G>A, XM_011529002.2:c.1242G>A, XM_011529002.1:c.1242G>A, XM_011528996.3:c.1638G>A, XM_011528996.2:c.1638G>A, XM_011528996.1:c.1638G>A, XM_011529000.3:c.1635G>A, XM_011529000.2:c.1635G>A, XM_011529000.1:c.1635G>A, NM_022896.3:c.1635G>A, NM_022896.2:c.1635G>A, NM_022896.1:c.1635G>A, XM_011529001.3:c.1638G>A, XM_011529001.2:c.1638G>A, XM_011529001.1:c.1638G>A, XR_936610.3:n.1828G>A, XR_936610.2:n.1794G>A, XR_936610.1:n.1794G>A, XM_011529005.3:c.1638G>A, XM_011529005.2:c.1638G>A, XM_011529005.1:c.1638G>A, NM_001301860.2:c.1638G>A, NM_001301860.1:c.1638G>A, NR_126051.2:n.1823G>A, NR_126051.1:n.1791G>A, XM_011529003.2:c.1638G>A, XM_011529003.1:c.1638G>A, XM_011529004.2:c.1638G>A, XM_011529004.1:c.1638G>A, XR_430311.2:n.1828G>A, XR_430311.1:n.1794G>A, XM_047440384.1:c.1638G>A, XM_047440386.1:c.1635G>A, XM_047440383.1:c.1635G>A, XM_047440385.1:c.1638G>A, XM_047440387.1:c.1635G>A, XM_047440388.1:c.1635G>A, XR_007067476.1:n.1828G>A, XM_047440389.1:c.1638G>A

              7.

              rs1481927603 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:41348703 (GRCh38)
                20:39977343 (GRCh37)
                Canonical SPDI:
                NC_000020.11:41348702:G:A
                Gene:
                LPIN3 (Varview)
                Functional Consequence:
                coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000111/1 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.41348703G>A, NC_000020.10:g.39977343G>A, XM_011528997.4:c.373G>A, XM_011528997.3:c.373G>A, XM_011528997.2:c.373G>A, XM_011528997.1:c.373G>A, XM_011528999.4:c.373G>A, XM_011528999.3:c.373G>A, XM_011528999.2:c.373G>A, XM_011528999.1:c.373G>A, XM_011528998.4:c.373G>A, XM_011528998.3:c.373G>A, XM_011528998.2:c.373G>A, XM_011528998.1:c.373G>A, XM_011529002.4:c.-24G>A, XM_011529002.3:c.-24G>A, XM_011529002.2:c.-24G>A, XM_011529002.1:c.-24G>A, XM_011528996.3:c.373G>A, XM_011528996.2:c.373G>A, XM_011528996.1:c.373G>A, XM_011529000.3:c.373G>A, XM_011529000.2:c.373G>A, XM_011529000.1:c.373G>A, NM_022896.3:c.373G>A, NM_022896.2:c.373G>A, NM_022896.1:c.373G>A, XM_011529001.3:c.373G>A, XM_011529001.2:c.373G>A, XM_011529001.1:c.373G>A, XR_936610.3:n.563G>A, XR_936610.2:n.529G>A, XR_936610.1:n.529G>A, XM_011529005.3:c.373G>A, XM_011529005.2:c.373G>A, XM_011529005.1:c.373G>A, XM_006723863.3:c.373G>A, XM_006723863.2:c.373G>A, XM_006723863.1:c.373G>A, XM_011529006.3:c.373G>A, XM_011529006.2:c.373G>A, XM_011529006.1:c.373G>A, XM_005260516.3:c.373G>A, XM_005260516.2:c.373G>A, XM_005260516.1:c.373G>A, NM_001301860.2:c.373G>A, NM_001301860.1:c.373G>A, NR_126051.2:n.563G>A, NR_126051.1:n.531G>A, XM_011529003.2:c.373G>A, XM_011529003.1:c.373G>A, XM_011529004.2:c.373G>A, XM_011529004.1:c.373G>A, XR_430311.2:n.563G>A, XR_430311.1:n.529G>A, XM_047440384.1:c.373G>A, XM_047440386.1:c.373G>A, XM_047440383.1:c.373G>A, XM_047440385.1:c.373G>A, XM_047440387.1:c.373G>A, XM_047440388.1:c.373G>A, XR_007067476.1:n.563G>A, XM_047440389.1:c.373G>A, XP_011527299.1:p.Ala125Thr, XP_011527301.1:p.Ala125Thr, XP_011527300.1:p.Ala125Thr, XP_011527298.1:p.Ala125Thr, XP_011527302.1:p.Ala125Thr, NP_075047.1:p.Ala125Thr, XP_011527303.1:p.Ala125Thr, XP_011527307.1:p.Ala125Thr, XP_006723926.1:p.Ala125Thr, XP_011527308.1:p.Ala125Thr, XP_005260573.1:p.Ala125Thr, NP_001288789.1:p.Ala125Thr, XP_011527305.1:p.Ala125Thr, XP_011527306.1:p.Ala125Thr, XP_047296340.1:p.Ala125Thr, XP_047296342.1:p.Ala125Thr, XP_047296339.1:p.Ala125Thr, XP_047296341.1:p.Ala125Thr, XP_047296343.1:p.Ala125Thr, XP_047296344.1:p.Ala125Thr, XP_047296345.1:p.Ala125Thr

                8.

                rs1480191639 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  20:41347620 (GRCh38)
                  20:39976260 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:41347619:C:G
                  Gene:
                  LPIN3 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000671/3 (ALFA)
                  G=0.000021/3 (GnomAD)
                  G=0.00067/3 (Estonian)
                  HGVS:
                  NC_000020.11:g.41347620C>G, NC_000020.10:g.39976260C>G, XM_011528997.4:c.261C>G, XM_011528997.3:c.261C>G, XM_011528997.2:c.261C>G, XM_011528997.1:c.261C>G, XM_011528999.4:c.261C>G, XM_011528999.3:c.261C>G, XM_011528999.2:c.261C>G, XM_011528999.1:c.261C>G, XM_011528998.4:c.261C>G, XM_011528998.3:c.261C>G, XM_011528998.2:c.261C>G, XM_011528998.1:c.261C>G, XM_011528996.3:c.261C>G, XM_011528996.2:c.261C>G, XM_011528996.1:c.261C>G, XM_011529000.3:c.261C>G, XM_011529000.2:c.261C>G, XM_011529000.1:c.261C>G, NM_022896.3:c.261C>G, NM_022896.2:c.261C>G, NM_022896.1:c.261C>G, XM_011529001.3:c.261C>G, XM_011529001.2:c.261C>G, XM_011529001.1:c.261C>G, XR_936610.3:n.451C>G, XR_936610.2:n.417C>G, XR_936610.1:n.417C>G, XM_011529005.3:c.261C>G, XM_011529005.2:c.261C>G, XM_011529005.1:c.261C>G, XM_006723863.3:c.261C>G, XM_006723863.2:c.261C>G, XM_006723863.1:c.261C>G, XM_011529006.3:c.261C>G, XM_011529006.2:c.261C>G, XM_011529006.1:c.261C>G, XM_005260516.3:c.261C>G, XM_005260516.2:c.261C>G, XM_005260516.1:c.261C>G, NM_001301860.2:c.261C>G, NM_001301860.1:c.261C>G, NR_126051.2:n.451C>G, NR_126051.1:n.419C>G, XM_011529003.2:c.261C>G, XM_011529003.1:c.261C>G, XM_011529004.2:c.261C>G, XM_011529004.1:c.261C>G, XR_430311.2:n.451C>G, XR_430311.1:n.417C>G, XM_047440384.1:c.261C>G, XM_047440386.1:c.261C>G, XM_047440383.1:c.261C>G, XM_047440385.1:c.261C>G, XM_047440387.1:c.261C>G, XM_047440388.1:c.261C>G, XR_007067476.1:n.451C>G, XM_047440389.1:c.261C>G, XP_011527299.1:p.Phe87Leu, XP_011527301.1:p.Phe87Leu, XP_011527300.1:p.Phe87Leu, XP_011527298.1:p.Phe87Leu, XP_011527302.1:p.Phe87Leu, NP_075047.1:p.Phe87Leu, XP_011527303.1:p.Phe87Leu, XP_011527307.1:p.Phe87Leu, XP_006723926.1:p.Phe87Leu, XP_011527308.1:p.Phe87Leu, XP_005260573.1:p.Phe87Leu, NP_001288789.1:p.Phe87Leu, XP_011527305.1:p.Phe87Leu, XP_011527306.1:p.Phe87Leu, XP_047296340.1:p.Phe87Leu, XP_047296342.1:p.Phe87Leu, XP_047296339.1:p.Phe87Leu, XP_047296341.1:p.Phe87Leu, XP_047296343.1:p.Phe87Leu, XP_047296344.1:p.Phe87Leu, XP_047296345.1:p.Phe87Leu

                  9.

                  rs1477945241 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:41345891 (GRCh38)
                    20:39974531 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:41345890:G:A
                    Gene:
                    LPIN3 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000011/3 (TOPMED)
                    A=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.41345891G>A, NC_000020.10:g.39974531G>A, XM_011528997.4:c.88G>A, XM_011528997.3:c.88G>A, XM_011528997.2:c.88G>A, XM_011528997.1:c.88G>A, XM_011528999.4:c.88G>A, XM_011528999.3:c.88G>A, XM_011528999.2:c.88G>A, XM_011528999.1:c.88G>A, XM_011528998.4:c.88G>A, XM_011528998.3:c.88G>A, XM_011528998.2:c.88G>A, XM_011528998.1:c.88G>A, XM_011528996.3:c.88G>A, XM_011528996.2:c.88G>A, XM_011528996.1:c.88G>A, XM_011529000.3:c.88G>A, XM_011529000.2:c.88G>A, XM_011529000.1:c.88G>A, NM_022896.3:c.88G>A, NM_022896.2:c.88G>A, NM_022896.1:c.88G>A, XM_011529001.3:c.88G>A, XM_011529001.2:c.88G>A, XM_011529001.1:c.88G>A, XR_936610.3:n.278G>A, XR_936610.2:n.244G>A, XR_936610.1:n.244G>A, XM_011529005.3:c.88G>A, XM_011529005.2:c.88G>A, XM_011529005.1:c.88G>A, XM_006723863.3:c.88G>A, XM_006723863.2:c.88G>A, XM_006723863.1:c.88G>A, XM_011529006.3:c.88G>A, XM_011529006.2:c.88G>A, XM_011529006.1:c.88G>A, XM_005260516.3:c.88G>A, XM_005260516.2:c.88G>A, XM_005260516.1:c.88G>A, NM_001301860.2:c.88G>A, NM_001301860.1:c.88G>A, NR_126051.2:n.278G>A, NR_126051.1:n.246G>A, XM_011529003.2:c.88G>A, XM_011529003.1:c.88G>A, XM_011529004.2:c.88G>A, XM_011529004.1:c.88G>A, XR_430311.2:n.278G>A, XR_430311.1:n.244G>A, XM_047440384.1:c.88G>A, XM_047440386.1:c.88G>A, XM_047440383.1:c.88G>A, XM_047440385.1:c.88G>A, XM_047440387.1:c.88G>A, XM_047440388.1:c.88G>A, XR_007067476.1:n.278G>A, XM_047440389.1:c.88G>A, XP_011527299.1:p.Gly30Ser, XP_011527301.1:p.Gly30Ser, XP_011527300.1:p.Gly30Ser, XP_011527298.1:p.Gly30Ser, XP_011527302.1:p.Gly30Ser, NP_075047.1:p.Gly30Ser, XP_011527303.1:p.Gly30Ser, XP_011527307.1:p.Gly30Ser, XP_006723926.1:p.Gly30Ser, XP_011527308.1:p.Gly30Ser, XP_005260573.1:p.Gly30Ser, NP_001288789.1:p.Gly30Ser, XP_011527305.1:p.Gly30Ser, XP_011527306.1:p.Gly30Ser, XP_047296340.1:p.Gly30Ser, XP_047296342.1:p.Gly30Ser, XP_047296339.1:p.Gly30Ser, XP_047296341.1:p.Gly30Ser, XP_047296343.1:p.Gly30Ser, XP_047296344.1:p.Gly30Ser, XP_047296345.1:p.Gly30Ser

                    10.

                    rs1477272529 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      20:41358292 (GRCh38)
                      20:39986932 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:41358291:C:T
                      Gene:
                      LPIN3 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000020.11:g.41358292C>T, NC_000020.10:g.39986932C>T, XM_011528997.4:c.2419C>T, XM_011528997.3:c.2419C>T, XM_011528997.2:c.2419C>T, XM_011528997.1:c.2419C>T, XM_011528999.4:c.2419C>T, XM_011528999.3:c.2419C>T, XM_011528999.2:c.2419C>T, XM_011528999.1:c.2419C>T, XM_011528998.4:c.2419C>T, XM_011528998.3:c.2419C>T, XM_011528998.2:c.2419C>T, XM_011528998.1:c.2419C>T, XM_011529002.4:c.2023C>T, XM_011529002.3:c.2023C>T, XM_011529002.2:c.2023C>T, XM_011529002.1:c.2023C>T, XM_011528996.3:c.2419C>T, XM_011528996.2:c.2419C>T, XM_011528996.1:c.2419C>T, XM_011529000.3:c.2416C>T, XM_011529000.2:c.2416C>T, XM_011529000.1:c.2416C>T, NM_022896.3:c.2248C>T, NM_022896.2:c.2248C>T, NM_022896.1:c.2248C>T, XM_011529001.3:c.2098C>T, XM_011529001.2:c.2098C>T, XM_011529001.1:c.2098C>T, XR_936610.3:n.2577C>T, XR_936610.2:n.2543C>T, XR_936610.1:n.2543C>T, NM_001301860.2:c.2251C>T, NM_001301860.1:c.2251C>T, NR_126051.2:n.2359C>T, NR_126051.1:n.2327C>T, XM_011529003.2:c.*315C>T, XM_011529003.1:c.*315C>T, XM_011529004.2:c.*48C>T, XM_011529004.1:c.*48C>T, XR_430311.2:n.2364C>T, XR_430311.1:n.2330C>T, XM_047440384.1:c.2251C>T, XM_047440386.1:c.2248C>T, XM_047440383.1:c.2416C>T, XM_047440385.1:c.2251C>T, XM_047440387.1:c.2248C>T, XM_047440388.1:c.2095C>T, XR_007067476.1:n.2686C>T, XM_047440389.1:c.*254C>T, XP_011527299.1:p.Gln807Ter, XP_011527301.1:p.Gln807Ter, XP_011527300.1:p.Gln807Ter, XP_011527304.1:p.Gln675Ter, XP_011527298.1:p.Gln807Ter, XP_011527302.1:p.Gln806Ter, NP_075047.1:p.Gln750Ter, XP_011527303.1:p.Gln700Ter, NP_001288789.1:p.Gln751Ter, XP_047296340.1:p.Gln751Ter, XP_047296342.1:p.Gln750Ter, XP_047296339.1:p.Gln806Ter, XP_047296341.1:p.Gln751Ter, XP_047296343.1:p.Gln750Ter, XP_047296344.1:p.Gln699Ter

                      11.

                      rs1476677478 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        20:41357863 (GRCh38)
                        20:39986503 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:41357862:CCC:CC
                        Gene:
                        LPIN3 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CC=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000020.11:g.41357865del, NC_000020.10:g.39986505del, XM_011528997.4:c.2271del, XM_011528997.3:c.2271del, XM_011528997.2:c.2271del, XM_011528997.1:c.2271del, XM_011528999.4:c.2271del, XM_011528999.3:c.2271del, XM_011528999.2:c.2271del, XM_011528999.1:c.2271del, XM_011528998.4:c.2271del, XM_011528998.3:c.2271del, XM_011528998.2:c.2271del, XM_011528998.1:c.2271del, XM_011529002.4:c.1875del, XM_011529002.3:c.1875del, XM_011529002.2:c.1875del, XM_011529002.1:c.1875del, XM_011528996.3:c.2271del, XM_011528996.2:c.2271del, XM_011528996.1:c.2271del, XM_011529000.3:c.2268del, XM_011529000.2:c.2268del, XM_011529000.1:c.2268del, XM_047440383.1:c.2268del, XR_007067476.1:n.2461del, XP_011527299.1:p.Cys758fs, XP_011527301.1:p.Cys758fs, XP_011527300.1:p.Cys758fs, XP_011527304.1:p.Cys626fs, XP_011527298.1:p.Cys758fs, XP_011527302.1:p.Cys757fs, XP_047296339.1:p.Cys757fs

                        12.

                        rs1476643245 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          20:41357412 (GRCh38)
                          20:39986052 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:41357411:C:A
                          Gene:
                          LPIN3 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000020.11:g.41357412C>A, NC_000020.10:g.39986052C>A, XM_011528997.4:c.2007C>A, XM_011528997.3:c.2007C>A, XM_011528997.2:c.2007C>A, XM_011528997.1:c.2007C>A, XM_011528999.4:c.2007C>A, XM_011528999.3:c.2007C>A, XM_011528999.2:c.2007C>A, XM_011528999.1:c.2007C>A, XM_011528998.4:c.2007C>A, XM_011528998.3:c.2007C>A, XM_011528998.2:c.2007C>A, XM_011528998.1:c.2007C>A, XM_011529002.4:c.1611C>A, XM_011529002.3:c.1611C>A, XM_011529002.2:c.1611C>A, XM_011529002.1:c.1611C>A, XM_011528996.3:c.2007C>A, XM_011528996.2:c.2007C>A, XM_011528996.1:c.2007C>A, XM_011529000.3:c.2004C>A, XM_011529000.2:c.2004C>A, XM_011529000.1:c.2004C>A, NM_022896.3:c.2004C>A, NM_022896.2:c.2004C>A, NM_022896.1:c.2004C>A, XM_011529001.3:c.2007C>A, XM_011529001.2:c.2007C>A, XM_011529001.1:c.2007C>A, XR_936610.3:n.2197C>A, XR_936610.2:n.2163C>A, XR_936610.1:n.2163C>A, XM_011529005.3:c.2007C>A, XM_011529005.2:c.2007C>A, XM_011529005.1:c.2007C>A, NM_001301860.2:c.2007C>A, NM_001301860.1:c.2007C>A, NR_126051.2:n.2192C>A, NR_126051.1:n.2160C>A, XM_011529003.2:c.2007C>A, XM_011529003.1:c.2007C>A, XM_011529004.2:c.2007C>A, XM_011529004.1:c.2007C>A, XR_430311.2:n.2197C>A, XR_430311.1:n.2163C>A, XM_047440384.1:c.2007C>A, XM_047440386.1:c.2004C>A, XM_047440383.1:c.2004C>A, XM_047440385.1:c.2007C>A, XM_047440387.1:c.2004C>A, XM_047440388.1:c.2004C>A, XR_007067476.1:n.2197C>A, XM_047440389.1:c.2007C>A, XP_011527299.1:p.His669Gln, XP_011527301.1:p.His669Gln, XP_011527300.1:p.His669Gln, XP_011527304.1:p.His537Gln, XP_011527298.1:p.His669Gln, XP_011527302.1:p.His668Gln, NP_075047.1:p.His668Gln, XP_011527303.1:p.His669Gln, XP_011527307.1:p.His669Gln, NP_001288789.1:p.His669Gln, XP_011527305.1:p.His669Gln, XP_011527306.1:p.His669Gln, XP_047296340.1:p.His669Gln, XP_047296342.1:p.His668Gln, XP_047296339.1:p.His668Gln, XP_047296341.1:p.His669Gln, XP_047296343.1:p.His668Gln, XP_047296344.1:p.His668Gln, XP_047296345.1:p.His669Gln

                          13.

                          rs1474600850 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            20:41350108 (GRCh38)
                            20:39978748 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:41350107:G:A,NC_000020.11:41350107:G:C
                            Gene:
                            LPIN3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000020.11:g.41350108G>A, NC_000020.11:g.41350108G>C, NC_000020.10:g.39978748G>A, NC_000020.10:g.39978748G>C, XM_011528997.4:c.816G>A, XM_011528997.4:c.816G>C, XM_011528997.3:c.816G>A, XM_011528997.3:c.816G>C, XM_011528997.2:c.816G>A, XM_011528997.2:c.816G>C, XM_011528997.1:c.816G>A, XM_011528997.1:c.816G>C, XM_011528999.4:c.816G>A, XM_011528999.4:c.816G>C, XM_011528999.3:c.816G>A, XM_011528999.3:c.816G>C, XM_011528999.2:c.816G>A, XM_011528999.2:c.816G>C, XM_011528999.1:c.816G>A, XM_011528999.1:c.816G>C, XM_011528998.4:c.816G>A, XM_011528998.4:c.816G>C, XM_011528998.3:c.816G>A, XM_011528998.3:c.816G>C, XM_011528998.2:c.816G>A, XM_011528998.2:c.816G>C, XM_011528998.1:c.816G>A, XM_011528998.1:c.816G>C, XM_011529002.4:c.420G>A, XM_011529002.4:c.420G>C, XM_011529002.3:c.420G>A, XM_011529002.3:c.420G>C, XM_011529002.2:c.420G>A, XM_011529002.2:c.420G>C, XM_011529002.1:c.420G>A, XM_011529002.1:c.420G>C, XM_011528996.3:c.816G>A, XM_011528996.3:c.816G>C, XM_011528996.2:c.816G>A, XM_011528996.2:c.816G>C, XM_011528996.1:c.816G>A, XM_011528996.1:c.816G>C, XM_011529000.3:c.813G>A, XM_011529000.3:c.813G>C, XM_011529000.2:c.813G>A, XM_011529000.2:c.813G>C, XM_011529000.1:c.813G>A, XM_011529000.1:c.813G>C, NM_022896.3:c.813G>A, NM_022896.3:c.813G>C, NM_022896.2:c.813G>A, NM_022896.2:c.813G>C, NM_022896.1:c.813G>A, NM_022896.1:c.813G>C, XM_011529001.3:c.816G>A, XM_011529001.3:c.816G>C, XM_011529001.2:c.816G>A, XM_011529001.2:c.816G>C, XM_011529001.1:c.816G>A, XM_011529001.1:c.816G>C, XR_936610.3:n.1006G>A, XR_936610.3:n.1006G>C, XR_936610.2:n.972G>A, XR_936610.2:n.972G>C, XR_936610.1:n.972G>A, XR_936610.1:n.972G>C, XM_011529005.3:c.816G>A, XM_011529005.3:c.816G>C, XM_011529005.2:c.816G>A, XM_011529005.2:c.816G>C, XM_011529005.1:c.816G>A, XM_011529005.1:c.816G>C, XM_006723863.3:c.816G>A, XM_006723863.3:c.816G>C, XM_006723863.2:c.816G>A, XM_006723863.2:c.816G>C, XM_006723863.1:c.816G>A, XM_006723863.1:c.816G>C, XM_011529006.3:c.816G>A, XM_011529006.3:c.816G>C, XM_011529006.2:c.816G>A, XM_011529006.2:c.816G>C, XM_011529006.1:c.816G>A, XM_011529006.1:c.816G>C, XM_005260516.3:c.816G>A, XM_005260516.3:c.816G>C, XM_005260516.2:c.816G>A, XM_005260516.2:c.816G>C, XM_005260516.1:c.816G>A, XM_005260516.1:c.816G>C, NM_001301860.2:c.816G>A, NM_001301860.2:c.816G>C, NM_001301860.1:c.816G>A, NM_001301860.1:c.816G>C, NR_126051.2:n.1006G>A, NR_126051.2:n.1006G>C, NR_126051.1:n.974G>A, NR_126051.1:n.974G>C, XM_011529003.2:c.816G>A, XM_011529003.2:c.816G>C, XM_011529003.1:c.816G>A, XM_011529003.1:c.816G>C, XM_011529004.2:c.816G>A, XM_011529004.2:c.816G>C, XM_011529004.1:c.816G>A, XM_011529004.1:c.816G>C, XR_430311.2:n.1006G>A, XR_430311.2:n.1006G>C, XR_430311.1:n.972G>A, XR_430311.1:n.972G>C, XM_047440384.1:c.816G>A, XM_047440384.1:c.816G>C, XM_047440386.1:c.813G>A, XM_047440386.1:c.813G>C, XM_047440383.1:c.813G>A, XM_047440383.1:c.813G>C, XM_047440385.1:c.816G>A, XM_047440385.1:c.816G>C, XM_047440387.1:c.813G>A, XM_047440387.1:c.813G>C, XM_047440388.1:c.813G>A, XM_047440388.1:c.813G>C, XR_007067476.1:n.1006G>A, XR_007067476.1:n.1006G>C, XM_047440389.1:c.816G>A, XM_047440389.1:c.816G>C

                            14.

                            rs1473944947 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              20:41352118 (GRCh38)
                              20:39980758 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:41352117:G:T
                              Gene:
                              LPIN3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000020.11:g.41352118G>T, NC_000020.10:g.39980758G>T, XM_011528997.4:c.1264G>T, XM_011528997.3:c.1264G>T, XM_011528997.2:c.1264G>T, XM_011528997.1:c.1264G>T, XM_011528999.4:c.1264G>T, XM_011528999.3:c.1264G>T, XM_011528999.2:c.1264G>T, XM_011528999.1:c.1264G>T, XM_011528998.4:c.1264G>T, XM_011528998.3:c.1264G>T, XM_011528998.2:c.1264G>T, XM_011528998.1:c.1264G>T, XM_011529002.4:c.868G>T, XM_011529002.3:c.868G>T, XM_011529002.2:c.868G>T, XM_011529002.1:c.868G>T, XM_011528996.3:c.1264G>T, XM_011528996.2:c.1264G>T, XM_011528996.1:c.1264G>T, XM_011529000.3:c.1261G>T, XM_011529000.2:c.1261G>T, XM_011529000.1:c.1261G>T, NM_022896.3:c.1261G>T, NM_022896.2:c.1261G>T, NM_022896.1:c.1261G>T, XM_011529001.3:c.1264G>T, XM_011529001.2:c.1264G>T, XM_011529001.1:c.1264G>T, XR_936610.3:n.1454G>T, XR_936610.2:n.1420G>T, XR_936610.1:n.1420G>T, XM_011529005.3:c.1264G>T, XM_011529005.2:c.1264G>T, XM_011529005.1:c.1264G>T, XM_006723863.3:c.1264G>T, XM_006723863.2:c.1264G>T, XM_006723863.1:c.1264G>T, XM_011529006.3:c.1264G>T, XM_011529006.2:c.1264G>T, XM_011529006.1:c.1264G>T, XM_005260516.3:c.1264G>T, XM_005260516.2:c.1264G>T, XM_005260516.1:c.1264G>T, NM_001301860.2:c.1264G>T, NM_001301860.1:c.1264G>T, NR_126051.2:n.1454G>T, NR_126051.1:n.1422G>T, XM_011529003.2:c.1264G>T, XM_011529003.1:c.1264G>T, XM_011529004.2:c.1264G>T, XM_011529004.1:c.1264G>T, XR_430311.2:n.1454G>T, XR_430311.1:n.1420G>T, XM_047440384.1:c.1264G>T, XM_047440386.1:c.1261G>T, XM_047440383.1:c.1261G>T, XM_047440385.1:c.1264G>T, XM_047440387.1:c.1261G>T, XM_047440388.1:c.1261G>T, XR_007067476.1:n.1454G>T, XM_047440389.1:c.1264G>T, XP_011527299.1:p.Asp422Tyr, XP_011527301.1:p.Asp422Tyr, XP_011527300.1:p.Asp422Tyr, XP_011527304.1:p.Asp290Tyr, XP_011527298.1:p.Asp422Tyr, XP_011527302.1:p.Asp421Tyr, NP_075047.1:p.Asp421Tyr, XP_011527303.1:p.Asp422Tyr, XP_011527307.1:p.Asp422Tyr, XP_006723926.1:p.Asp422Tyr, XP_011527308.1:p.Asp422Tyr, XP_005260573.1:p.Asp422Tyr, NP_001288789.1:p.Asp422Tyr, XP_011527305.1:p.Asp422Tyr, XP_011527306.1:p.Asp422Tyr, XP_047296340.1:p.Asp422Tyr, XP_047296342.1:p.Asp421Tyr, XP_047296339.1:p.Asp421Tyr, XP_047296341.1:p.Asp422Tyr, XP_047296343.1:p.Asp421Tyr, XP_047296344.1:p.Asp421Tyr, XP_047296345.1:p.Asp422Tyr

                              15.

                              rs1473317690 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                20:41358812 (GRCh38)
                                20:39987452 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:41358811:C:A,NC_000020.11:41358811:C:T
                                Gene:
                                LPIN3 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000056/2 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000020.11:g.41358812C>A, NC_000020.11:g.41358812C>T, NC_000020.10:g.39987452C>A, NC_000020.10:g.39987452C>T, XM_011528997.4:c.2673C>A, XM_011528997.4:c.2673C>T, XM_011528997.3:c.2673C>A, XM_011528997.3:c.2673C>T, XM_011528997.2:c.2673C>A, XM_011528997.2:c.2673C>T, XM_011528997.1:c.2673C>A, XM_011528997.1:c.2673C>T, XM_011528999.4:c.2673C>A, XM_011528999.4:c.2673C>T, XM_011528999.3:c.2673C>A, XM_011528999.3:c.2673C>T, XM_011528999.2:c.2673C>A, XM_011528999.2:c.2673C>T, XM_011528999.1:c.2673C>A, XM_011528999.1:c.2673C>T, XM_011528998.4:c.2673C>A, XM_011528998.4:c.2673C>T, XM_011528998.3:c.2673C>A, XM_011528998.3:c.2673C>T, XM_011528998.2:c.2673C>A, XM_011528998.2:c.2673C>T, XM_011528998.1:c.2673C>A, XM_011528998.1:c.2673C>T, XM_011529002.4:c.2277C>A, XM_011529002.4:c.2277C>T, XM_011529002.3:c.2277C>A, XM_011529002.3:c.2277C>T, XM_011529002.2:c.2277C>A, XM_011529002.2:c.2277C>T, XM_011529002.1:c.2277C>A, XM_011529002.1:c.2277C>T, XM_011528996.3:c.2673C>A, XM_011528996.3:c.2673C>T, XM_011528996.2:c.2673C>A, XM_011528996.2:c.2673C>T, XM_011528996.1:c.2673C>A, XM_011528996.1:c.2673C>T, XM_011529000.3:c.2670C>A, XM_011529000.3:c.2670C>T, XM_011529000.2:c.2670C>A, XM_011529000.2:c.2670C>T, XM_011529000.1:c.2670C>A, XM_011529000.1:c.2670C>T, NM_022896.3:c.2502C>A, NM_022896.3:c.2502C>T, NM_022896.2:c.2502C>A, NM_022896.2:c.2502C>T, NM_022896.1:c.2502C>A, NM_022896.1:c.2502C>T, XM_011529001.3:c.2352C>A, XM_011529001.3:c.2352C>T, XM_011529001.2:c.2352C>A, XM_011529001.2:c.2352C>T, XM_011529001.1:c.2352C>A, XM_011529001.1:c.2352C>T, NM_001301860.2:c.2505C>A, NM_001301860.2:c.2505C>T, NM_001301860.1:c.2505C>A, NM_001301860.1:c.2505C>T, NR_126051.2:n.2613C>A, NR_126051.2:n.2613C>T, NR_126051.1:n.2581C>A, NR_126051.1:n.2581C>T, XM_047440384.1:c.2505C>A, XM_047440384.1:c.2505C>T, XM_047440386.1:c.2502C>A, XM_047440386.1:c.2502C>T, XM_047440383.1:c.2670C>A, XM_047440383.1:c.2670C>T, XM_047440385.1:c.2505C>A, XM_047440385.1:c.2505C>T, XM_047440387.1:c.2502C>A, XM_047440387.1:c.2502C>T, XM_047440388.1:c.2349C>A, XM_047440388.1:c.2349C>T, XP_011527299.1:p.Asn891Lys, XP_011527301.1:p.Asn891Lys, XP_011527300.1:p.Asn891Lys, XP_011527304.1:p.Asn759Lys, XP_011527298.1:p.Asn891Lys, XP_011527302.1:p.Asn890Lys, NP_075047.1:p.Asn834Lys, XP_011527303.1:p.Asn784Lys, NP_001288789.1:p.Asn835Lys, XP_047296340.1:p.Asn835Lys, XP_047296342.1:p.Asn834Lys, XP_047296339.1:p.Asn890Lys, XP_047296341.1:p.Asn835Lys, XP_047296343.1:p.Asn834Lys, XP_047296344.1:p.Asn783Lys

                                16.

                                rs1472256347 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  20:41354838 (GRCh38)
                                  20:39983478 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:41354837:A:G
                                  Gene:
                                  LPIN3 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000020.11:g.41354838A>G, NC_000020.10:g.39983478A>G, XM_011528997.4:c.1642A>G, XM_011528997.3:c.1642A>G, XM_011528997.2:c.1642A>G, XM_011528997.1:c.1642A>G, XM_011528999.4:c.1642A>G, XM_011528999.3:c.1642A>G, XM_011528999.2:c.1642A>G, XM_011528999.1:c.1642A>G, XM_011528998.4:c.1642A>G, XM_011528998.3:c.1642A>G, XM_011528998.2:c.1642A>G, XM_011528998.1:c.1642A>G, XM_011529002.4:c.1246A>G, XM_011529002.3:c.1246A>G, XM_011529002.2:c.1246A>G, XM_011529002.1:c.1246A>G, XM_011528996.3:c.1642A>G, XM_011528996.2:c.1642A>G, XM_011528996.1:c.1642A>G, XM_011529000.3:c.1639A>G, XM_011529000.2:c.1639A>G, XM_011529000.1:c.1639A>G, NM_022896.3:c.1639A>G, NM_022896.2:c.1639A>G, NM_022896.1:c.1639A>G, XM_011529001.3:c.1642A>G, XM_011529001.2:c.1642A>G, XM_011529001.1:c.1642A>G, XR_936610.3:n.1832A>G, XR_936610.2:n.1798A>G, XR_936610.1:n.1798A>G, XM_011529005.3:c.1642A>G, XM_011529005.2:c.1642A>G, XM_011529005.1:c.1642A>G, NM_001301860.2:c.1642A>G, NM_001301860.1:c.1642A>G, NR_126051.2:n.1827A>G, NR_126051.1:n.1795A>G, XM_011529003.2:c.1642A>G, XM_011529003.1:c.1642A>G, XM_011529004.2:c.1642A>G, XM_011529004.1:c.1642A>G, XR_430311.2:n.1832A>G, XR_430311.1:n.1798A>G, XM_047440384.1:c.1642A>G, XM_047440386.1:c.1639A>G, XM_047440383.1:c.1639A>G, XM_047440385.1:c.1642A>G, XM_047440387.1:c.1639A>G, XM_047440388.1:c.1639A>G, XR_007067476.1:n.1832A>G, XM_047440389.1:c.1642A>G, XP_011527299.1:p.Lys548Glu, XP_011527301.1:p.Lys548Glu, XP_011527300.1:p.Lys548Glu, XP_011527304.1:p.Lys416Glu, XP_011527298.1:p.Lys548Glu, XP_011527302.1:p.Lys547Glu, NP_075047.1:p.Lys547Glu, XP_011527303.1:p.Lys548Glu, XP_011527307.1:p.Lys548Glu, NP_001288789.1:p.Lys548Glu, XP_011527305.1:p.Lys548Glu, XP_011527306.1:p.Lys548Glu, XP_047296340.1:p.Lys548Glu, XP_047296342.1:p.Lys547Glu, XP_047296339.1:p.Lys547Glu, XP_047296341.1:p.Lys548Glu, XP_047296343.1:p.Lys547Glu, XP_047296344.1:p.Lys547Glu, XP_047296345.1:p.Lys548Glu

                                  17.

                                  rs1471557145 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:41348642 (GRCh38)
                                    20:39977282 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:41348641:C:T
                                    Gene:
                                    LPIN3 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.41348642C>T, NC_000020.10:g.39977282C>T, XM_011528997.4:c.312C>T, XM_011528997.3:c.312C>T, XM_011528997.2:c.312C>T, XM_011528997.1:c.312C>T, XM_011528999.4:c.312C>T, XM_011528999.3:c.312C>T, XM_011528999.2:c.312C>T, XM_011528999.1:c.312C>T, XM_011528998.4:c.312C>T, XM_011528998.3:c.312C>T, XM_011528998.2:c.312C>T, XM_011528998.1:c.312C>T, XM_011529002.4:c.-85C>T, XM_011529002.3:c.-85C>T, XM_011529002.2:c.-85C>T, XM_011529002.1:c.-85C>T, XM_011528996.3:c.312C>T, XM_011528996.2:c.312C>T, XM_011528996.1:c.312C>T, XM_011529000.3:c.312C>T, XM_011529000.2:c.312C>T, XM_011529000.1:c.312C>T, NM_022896.3:c.312C>T, NM_022896.2:c.312C>T, NM_022896.1:c.312C>T, XM_011529001.3:c.312C>T, XM_011529001.2:c.312C>T, XM_011529001.1:c.312C>T, XR_936610.3:n.502C>T, XR_936610.2:n.468C>T, XR_936610.1:n.468C>T, XM_011529005.3:c.312C>T, XM_011529005.2:c.312C>T, XM_011529005.1:c.312C>T, XM_006723863.3:c.312C>T, XM_006723863.2:c.312C>T, XM_006723863.1:c.312C>T, XM_011529006.3:c.312C>T, XM_011529006.2:c.312C>T, XM_011529006.1:c.312C>T, XM_005260516.3:c.312C>T, XM_005260516.2:c.312C>T, XM_005260516.1:c.312C>T, NM_001301860.2:c.312C>T, NM_001301860.1:c.312C>T, NR_126051.2:n.502C>T, NR_126051.1:n.470C>T, XM_011529003.2:c.312C>T, XM_011529003.1:c.312C>T, XM_011529004.2:c.312C>T, XM_011529004.1:c.312C>T, XR_430311.2:n.502C>T, XR_430311.1:n.468C>T, XM_047440384.1:c.312C>T, XM_047440386.1:c.312C>T, XM_047440383.1:c.312C>T, XM_047440385.1:c.312C>T, XM_047440387.1:c.312C>T, XM_047440388.1:c.312C>T, XR_007067476.1:n.502C>T, XM_047440389.1:c.312C>T

                                    18.

                                    rs1469821401 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      20:41352220 (GRCh38)
                                      20:39980860 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:41352219:G:T
                                      Gene:
                                      LPIN3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000020.11:g.41352220G>T, NC_000020.10:g.39980860G>T, XM_011528997.4:c.1366G>T, XM_011528997.3:c.1366G>T, XM_011528997.2:c.1366G>T, XM_011528997.1:c.1366G>T, XM_011528999.4:c.1366G>T, XM_011528999.3:c.1366G>T, XM_011528999.2:c.1366G>T, XM_011528999.1:c.1366G>T, XM_011528998.4:c.1366G>T, XM_011528998.3:c.1366G>T, XM_011528998.2:c.1366G>T, XM_011528998.1:c.1366G>T, XM_011529002.4:c.970G>T, XM_011529002.3:c.970G>T, XM_011529002.2:c.970G>T, XM_011529002.1:c.970G>T, XM_011528996.3:c.1366G>T, XM_011528996.2:c.1366G>T, XM_011528996.1:c.1366G>T, XM_011529000.3:c.1363G>T, XM_011529000.2:c.1363G>T, XM_011529000.1:c.1363G>T, NM_022896.3:c.1363G>T, NM_022896.2:c.1363G>T, NM_022896.1:c.1363G>T, XM_011529001.3:c.1366G>T, XM_011529001.2:c.1366G>T, XM_011529001.1:c.1366G>T, XR_936610.3:n.1556G>T, XR_936610.2:n.1522G>T, XR_936610.1:n.1522G>T, XM_011529005.3:c.1366G>T, XM_011529005.2:c.1366G>T, XM_011529005.1:c.1366G>T, XM_006723863.3:c.1366G>T, XM_006723863.2:c.1366G>T, XM_006723863.1:c.1366G>T, XM_011529006.3:c.1366G>T, XM_011529006.2:c.1366G>T, XM_011529006.1:c.1366G>T, XM_005260516.3:c.1366G>T, XM_005260516.2:c.1366G>T, XM_005260516.1:c.1366G>T, NM_001301860.2:c.1366G>T, NM_001301860.1:c.1366G>T, NR_126051.2:n.1556G>T, NR_126051.1:n.1524G>T, XM_011529003.2:c.1366G>T, XM_011529003.1:c.1366G>T, XM_011529004.2:c.1366G>T, XM_011529004.1:c.1366G>T, XR_430311.2:n.1556G>T, XR_430311.1:n.1522G>T, XM_047440384.1:c.1366G>T, XM_047440386.1:c.1363G>T, XM_047440383.1:c.1363G>T, XM_047440385.1:c.1366G>T, XM_047440387.1:c.1363G>T, XM_047440388.1:c.1363G>T, XR_007067476.1:n.1556G>T, XM_047440389.1:c.1366G>T, XP_011527299.1:p.Glu456Ter, XP_011527301.1:p.Glu456Ter, XP_011527300.1:p.Glu456Ter, XP_011527304.1:p.Glu324Ter, XP_011527298.1:p.Glu456Ter, XP_011527302.1:p.Glu455Ter, NP_075047.1:p.Glu455Ter, XP_011527303.1:p.Glu456Ter, XP_011527307.1:p.Glu456Ter, XP_006723926.1:p.Ala456Ser, XP_011527308.1:p.Ala456Ser, XP_005260573.1:p.Gly456Ter, NP_001288789.1:p.Glu456Ter, XP_011527305.1:p.Glu456Ter, XP_011527306.1:p.Glu456Ter, XP_047296340.1:p.Glu456Ter, XP_047296342.1:p.Glu455Ter, XP_047296339.1:p.Glu455Ter, XP_047296341.1:p.Glu456Ter, XP_047296343.1:p.Glu455Ter, XP_047296344.1:p.Glu455Ter, XP_047296345.1:p.Glu456Ter

                                      19.

                                      rs1467399895 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        20:41352819 (GRCh38)
                                        20:39981459 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:41352818:T:A
                                        Gene:
                                        LPIN3 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000020.11:g.41352819T>A, NC_000020.10:g.39981459T>A, XM_011528997.4:c.1482T>A, XM_011528997.3:c.1482T>A, XM_011528997.2:c.1482T>A, XM_011528997.1:c.1482T>A, XM_011528999.4:c.1482T>A, XM_011528999.3:c.1482T>A, XM_011528999.2:c.1482T>A, XM_011528999.1:c.1482T>A, XM_011528998.4:c.1482T>A, XM_011528998.3:c.1482T>A, XM_011528998.2:c.1482T>A, XM_011528998.1:c.1482T>A, XM_011529002.4:c.1086T>A, XM_011529002.3:c.1086T>A, XM_011529002.2:c.1086T>A, XM_011529002.1:c.1086T>A, XM_011528996.3:c.1482T>A, XM_011528996.2:c.1482T>A, XM_011528996.1:c.1482T>A, XM_011529000.3:c.1479T>A, XM_011529000.2:c.1479T>A, XM_011529000.1:c.1479T>A, NM_022896.3:c.1479T>A, NM_022896.2:c.1479T>A, NM_022896.1:c.1479T>A, XM_011529001.3:c.1482T>A, XM_011529001.2:c.1482T>A, XM_011529001.1:c.1482T>A, XR_936610.3:n.1672T>A, XR_936610.2:n.1638T>A, XR_936610.1:n.1638T>A, XM_011529005.3:c.1482T>A, XM_011529005.2:c.1482T>A, XM_011529005.1:c.1482T>A, XM_005260516.3:c.*52T>A, XM_005260516.2:c.*52T>A, XM_005260516.1:c.*52T>A, NM_001301860.2:c.1482T>A, NM_001301860.1:c.1482T>A, NR_126051.2:n.1672T>A, NR_126051.1:n.1640T>A, XM_011529003.2:c.1482T>A, XM_011529003.1:c.1482T>A, XM_011529004.2:c.1482T>A, XM_011529004.1:c.1482T>A, XR_430311.2:n.1672T>A, XR_430311.1:n.1638T>A, XM_047440384.1:c.1482T>A, XM_047440386.1:c.1479T>A, XM_047440383.1:c.1479T>A, XM_047440385.1:c.1482T>A, XM_047440387.1:c.1479T>A, XM_047440388.1:c.1479T>A, XR_007067476.1:n.1672T>A, XM_047440389.1:c.1482T>A

                                        20.

                                        rs1465538955 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GTGGCCC>- [Show Flanks]
                                          Chromosome:
                                          20:41358772 (GRCh38)
                                          20:39987412 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:41358764:GTGGCCCGTGGCCC:GTGGCCC
                                          Gene:
                                          LPIN3 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GTGGCCCGTGGCCC=0.000071/1 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          -=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.41358765GTGGCCC[1], NC_000020.10:g.39987405GTGGCCC[1], XM_011528997.4:c.2633_2639del, XM_011528997.3:c.2633_2639del, XM_011528997.2:c.2633_2639del, XM_011528997.1:c.2633_2639del, XM_011528999.4:c.2633_2639del, XM_011528999.3:c.2633_2639del, XM_011528999.2:c.2633_2639del, XM_011528999.1:c.2633_2639del, XM_011528998.4:c.2633_2639del, XM_011528998.3:c.2633_2639del, XM_011528998.2:c.2633_2639del, XM_011528998.1:c.2633_2639del, XM_011529002.4:c.2237_2243del, XM_011529002.3:c.2237_2243del, XM_011529002.2:c.2237_2243del, XM_011529002.1:c.2237_2243del, XM_011528996.3:c.2633_2639del, XM_011528996.2:c.2633_2639del, XM_011528996.1:c.2633_2639del, XM_011529000.3:c.2630_2636del, XM_011529000.2:c.2630_2636del, XM_011529000.1:c.2630_2636del, NM_022896.3:c.2462_2468del, NM_022896.2:c.2462_2468del, NM_022896.1:c.2462_2468del, XM_011529001.3:c.2312_2318del, XM_011529001.2:c.2312_2318del, XM_011529001.1:c.2312_2318del, NM_001301860.2:c.2465_2471del, NM_001301860.1:c.2465_2471del, NR_126051.2:n.2566GTGGCCC[1], NR_126051.1:n.2534GTGGCCC[1], XM_047440384.1:c.2465_2471del, XM_047440386.1:c.2462_2468del, XM_047440383.1:c.2630_2636del, XM_047440385.1:c.2465_2471del, XM_047440387.1:c.2462_2468del, XM_047440388.1:c.2309_2315del, XP_011527299.1:p.Arg878fs, XP_011527301.1:p.Arg878fs, XP_011527300.1:p.Arg878fs, XP_011527304.1:p.Arg746fs, XP_011527298.1:p.Arg878fs, XP_011527302.1:p.Arg877fs, NP_075047.1:p.Arg821fs, XP_011527303.1:p.Arg771fs, NP_001288789.1:p.Arg822fs, XP_047296340.1:p.Arg822fs, XP_047296342.1:p.Arg821fs, XP_047296339.1:p.Arg877fs, XP_047296341.1:p.Arg822fs, XP_047296343.1:p.Arg821fs, XP_047296344.1:p.Arg770fs

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