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Items: 1 to 20 of 601

1.

rs1487480474 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCATCCTTCAAC>- [Show Flanks]
    Chromosome:
    12:50466963 (GRCh38)
    12:50860746 (GRCh37)
    Canonical SPDI:
    NC_000012.12:50466960:ACCTCATCCTTCAAC:AC
    Gene:
    LARP4 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.50466963_50466975del, NC_000012.11:g.50860746_50860758del, NM_052879.5:c.1388_1400del, NM_052879.4:c.1388_1400del, NM_199188.3:c.1385_1397del, NM_199188.2:c.1385_1397del, XM_017018751.3:c.1178_1190del, XM_017018751.2:c.1178_1190del, XM_017018751.1:c.1178_1190del, XM_017018753.3:c.1178_1190del, XM_017018753.2:c.1178_1190del, XM_017018753.1:c.1178_1190del, NM_199190.3:c.1175_1187del, NM_199190.2:c.1175_1187del, NM_001352311.2:c.1178_1190del, NM_001352311.1:c.1178_1190del, NM_001352306.2:c.1358_1370del, NM_001352306.1:c.1358_1370del, NM_001352310.2:c.1178_1190del, NM_001352310.1:c.1178_1190del, NM_001352312.2:c.1178_1190del, NM_001352312.1:c.1178_1190del, NM_001352309.2:c.1178_1190del, NM_001352309.1:c.1178_1190del, NM_001330415.2:c.1406_1418del, NM_001330415.1:c.1406_1418del, NM_001352305.2:c.1403_1415del, NM_001352305.1:c.1403_1415del, NM_001352307.2:c.1334_1346del, NM_001352307.1:c.1334_1346del, NM_001352314.2:c.1178_1190del, NM_001352314.1:c.1178_1190del, NM_001352313.2:c.1178_1190del, NM_001352313.1:c.1178_1190del, NM_001352321.2:c.1388_1400del, NM_001352321.1:c.1388_1400del, NM_001352316.2:c.965_977del, NM_001352316.1:c.965_977del, NM_001352317.2:c.965_977del, NM_001352317.1:c.965_977del, NM_001352319.2:c.962_974del, NM_001352319.1:c.962_974del, NM_001352308.2:c.1193_1205del, NM_001352308.1:c.1193_1205del, NM_001170808.2:c.1175_1187del, NM_001170808.1:c.1175_1187del, NM_001352315.2:c.1172_1184del, NM_001352315.1:c.1172_1184del, NM_001352320.2:c.965_977del, NM_001352320.1:c.965_977del, NM_001352318.2:c.965_977del, NM_001352318.1:c.965_977del, NM_001352323.2:c.1175_1187del, NM_001352323.1:c.1175_1187del, NM_001352322.2:c.1175_1187del, NM_001352322.1:c.1175_1187del, NM_001170803.2:c.962_974del, NM_001170803.1:c.962_974del, XM_047428212.1:c.1178_1190del, XM_047428213.1:c.1178_1190del, XM_047428210.1:c.1178_1190del, XM_047428216.1:c.1178_1190del, XM_047428202.1:c.1430_1442del, XM_047428203.1:c.1412_1424del, XM_047428215.1:c.1178_1190del, XM_047428218.1:c.1178_1190del, XM_047428211.1:c.1178_1190del, XM_047428219.1:c.1178_1190del, XM_047428224.1:c.1178_1190del, XM_047428225.1:c.1178_1190del, XM_047428217.1:c.1178_1190del, XM_047428214.1:c.1178_1190del, XM_047428205.1:c.1217_1229del, XM_047428204.1:c.1217_1229del, XM_047428207.1:c.1199_1211del, XM_047428206.1:c.1199_1211del, XM_047428208.1:c.1193_1205del, XM_047428209.1:c.1190_1202del, XM_047428220.1:c.1172_1184del, XM_047428226.1:c.965_977del, XM_047428222.1:c.1004_1016del, XM_047428223.1:c.986_998del, XM_047428227.1:c.959_971del, XM_047428228.1:c.1430_1442del, XM_047428229.1:c.1412_1424del, XM_047428230.1:c.1385_1397del, XM_047428233.1:c.1199_1211del, XM_047428231.1:c.1199_1211del, NP_443111.4:p.Pro463fs, NP_954658.2:p.Pro462fs, XP_016874240.1:p.Pro393fs, XP_016874242.1:p.Pro393fs, NP_954660.1:p.Pro392fs, NP_001339240.1:p.Pro393fs, NP_001339235.1:p.Pro453fs, NP_001339239.1:p.Pro393fs, NP_001339241.1:p.Pro393fs, NP_001339238.1:p.Pro393fs, NP_001317344.1:p.Pro469fs, NP_001339234.1:p.Pro468fs, NP_001339236.1:p.Pro445fs, NP_001339243.1:p.Pro393fs, NP_001339242.1:p.Pro393fs, NP_001339250.1:p.Pro463fs, NP_001339245.1:p.Pro322fs, NP_001339246.1:p.Pro322fs, NP_001339248.1:p.Pro321fs, NP_001339237.1:p.Pro398fs, NP_001164279.1:p.Pro392fs, NP_001339244.1:p.Pro391fs, NP_001339249.1:p.Pro322fs, NP_001339247.1:p.Pro322fs, NP_001339252.1:p.Pro392fs, NP_001339251.1:p.Pro392fs, NP_001164274.1:p.Pro321fs, XP_047284168.1:p.Pro393fs, XP_047284169.1:p.Pro393fs, XP_047284166.1:p.Pro393fs, XP_047284172.1:p.Pro393fs, XP_047284158.1:p.Pro477fs, XP_047284159.1:p.Pro471fs, XP_047284171.1:p.Pro393fs, XP_047284174.1:p.Pro393fs, XP_047284167.1:p.Pro393fs, XP_047284175.1:p.Pro393fs, XP_047284180.1:p.Pro393fs, XP_047284181.1:p.Pro393fs, XP_047284173.1:p.Pro393fs, XP_047284170.1:p.Pro393fs, XP_047284161.1:p.Pro406fs, XP_047284160.1:p.Pro406fs, XP_047284163.1:p.Pro400fs, XP_047284162.1:p.Pro400fs, XP_047284164.1:p.Pro398fs, XP_047284165.1:p.Pro397fs, XP_047284176.1:p.Pro391fs, XP_047284182.1:p.Pro322fs, XP_047284178.1:p.Pro335fs, XP_047284179.1:p.Pro329fs, XP_047284183.1:p.Pro320fs, XP_047284184.1:p.Pro477fs, XP_047284185.1:p.Pro471fs, XP_047284186.1:p.Pro462fs, XP_047284189.1:p.Pro400fs, XP_047284187.1:p.Pro400fs

    2.

    rs1484064833 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      12:50475852 (GRCh38)
      12:50869635 (GRCh37)
      Canonical SPDI:
      NC_000012.12:50475851:A:C
      Gene:
      LARP4 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000014/2 (GnomAD)
      C=0.000019/5 (TOPMED)
      HGVS:
      NC_000012.12:g.50475852A>C, NC_000012.11:g.50869635A>C, NM_052879.5:c.2163A>C, NM_052879.4:c.2163A>C, NM_199188.3:c.2160A>C, NM_199188.2:c.2160A>C, XM_017018751.3:c.1953A>C, XM_017018751.2:c.1953A>C, XM_017018751.1:c.1953A>C, XM_017018753.3:c.1953A>C, XM_017018753.2:c.1953A>C, XM_017018753.1:c.1953A>C, NM_199190.3:c.1950A>C, NM_199190.2:c.1950A>C, NM_001352311.2:c.1953A>C, NM_001352311.1:c.1953A>C, NM_001352306.2:c.2133A>C, NM_001352306.1:c.2133A>C, NM_001352310.2:c.1953A>C, NM_001352310.1:c.1953A>C, NM_001352312.2:c.1953A>C, NM_001352312.1:c.1953A>C, NM_001352309.2:c.1953A>C, NM_001352309.1:c.1953A>C, NM_001330415.2:c.2181A>C, NM_001330415.1:c.2181A>C, NM_001352305.2:c.2178A>C, NM_001352305.1:c.2178A>C, NM_001352307.2:c.2109A>C, NM_001352307.1:c.2109A>C, NM_001352314.2:c.1953A>C, NM_001352314.1:c.1953A>C, NM_001352313.2:c.1953A>C, NM_001352313.1:c.1953A>C, NM_001352321.2:c.*364A>C, NM_001352321.1:c.*364A>C, NM_001352316.2:c.1740A>C, NM_001352316.1:c.1740A>C, NM_001352317.2:c.1740A>C, NM_001352317.1:c.1740A>C, NM_001352319.2:c.1737A>C, NM_001352319.1:c.1737A>C, NM_001352308.2:c.1968A>C, NM_001352308.1:c.1968A>C, NM_001170808.2:c.1950A>C, NM_001170808.1:c.1950A>C, NM_001352315.2:c.1947A>C, NM_001352315.1:c.1947A>C, NM_001352320.2:c.1680A>C, NM_001352320.1:c.1680A>C, NM_001352318.2:c.1740A>C, NM_001352318.1:c.1740A>C, NM_001352323.2:c.*364A>C, NM_001352323.1:c.*364A>C, NM_001352322.2:c.*364A>C, NM_001352322.1:c.*364A>C, NM_001170803.2:c.1737A>C, NM_001170803.1:c.1737A>C, XM_047428212.1:c.1953A>C, XM_047428213.1:c.1953A>C, XM_047428210.1:c.1953A>C, XM_047428216.1:c.1953A>C, XM_047428202.1:c.2205A>C, XM_047428203.1:c.2187A>C, XM_047428215.1:c.1953A>C, XM_047428218.1:c.1953A>C, XM_047428211.1:c.1953A>C, XM_047428219.1:c.1953A>C, XM_047428224.1:c.1953A>C, XM_047428225.1:c.1953A>C, XM_047428217.1:c.1953A>C, XM_047428214.1:c.1953A>C, XM_047428205.1:c.1992A>C, XM_047428204.1:c.1992A>C, XM_047428207.1:c.1974A>C, XM_047428206.1:c.1974A>C, XM_047428208.1:c.1968A>C, XM_047428209.1:c.1965A>C, XM_047428220.1:c.1947A>C, XM_047428226.1:c.1740A>C, XM_047428222.1:c.1779A>C, XM_047428223.1:c.1761A>C, XM_047428227.1:c.1734A>C, NP_443111.4:p.Arg721Ser, NP_954658.2:p.Arg720Ser, XP_016874240.1:p.Arg651Ser, XP_016874242.1:p.Arg651Ser, NP_954660.1:p.Arg650Ser, NP_001339240.1:p.Arg651Ser, NP_001339235.1:p.Arg711Ser, NP_001339239.1:p.Arg651Ser, NP_001339241.1:p.Arg651Ser, NP_001339238.1:p.Arg651Ser, NP_001317344.1:p.Arg727Ser, NP_001339234.1:p.Arg726Ser, NP_001339236.1:p.Arg703Ser, NP_001339243.1:p.Arg651Ser, NP_001339242.1:p.Arg651Ser, NP_001339245.1:p.Arg580Ser, NP_001339246.1:p.Arg580Ser, NP_001339248.1:p.Arg579Ser, NP_001339237.1:p.Arg656Ser, NP_001164279.1:p.Arg650Ser, NP_001339244.1:p.Arg649Ser, NP_001339249.1:p.Arg560Ser, NP_001339247.1:p.Arg580Ser, NP_001164274.1:p.Arg579Ser, XP_047284168.1:p.Arg651Ser, XP_047284169.1:p.Arg651Ser, XP_047284166.1:p.Arg651Ser, XP_047284172.1:p.Arg651Ser, XP_047284158.1:p.Arg735Ser, XP_047284159.1:p.Arg729Ser, XP_047284171.1:p.Arg651Ser, XP_047284174.1:p.Arg651Ser, XP_047284167.1:p.Arg651Ser, XP_047284175.1:p.Arg651Ser, XP_047284180.1:p.Arg651Ser, XP_047284181.1:p.Arg651Ser, XP_047284173.1:p.Arg651Ser, XP_047284170.1:p.Arg651Ser, XP_047284161.1:p.Arg664Ser, XP_047284160.1:p.Arg664Ser, XP_047284163.1:p.Arg658Ser, XP_047284162.1:p.Arg658Ser, XP_047284164.1:p.Arg656Ser, XP_047284165.1:p.Arg655Ser, XP_047284176.1:p.Arg649Ser, XP_047284182.1:p.Arg580Ser, XP_047284178.1:p.Arg593Ser, XP_047284179.1:p.Arg587Ser, XP_047284183.1:p.Arg578Ser

      3.

      rs1483433932 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:50435531 (GRCh38)
        12:50829314 (GRCh37)
        Canonical SPDI:
        NC_000012.12:50435530:A:G
        Gene:
        LARP4 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000012.12:g.50435531A>G, NC_000012.11:g.50829314A>G, NM_052879.5:c.442A>G, NM_052879.4:c.442A>G, NM_199188.3:c.439A>G, NM_199188.2:c.439A>G, XM_017018751.3:c.232A>G, XM_017018751.2:c.232A>G, XM_017018751.1:c.232A>G, XM_017018753.3:c.232A>G, XM_017018753.2:c.232A>G, XM_017018753.1:c.232A>G, NM_199190.3:c.442A>G, NM_199190.2:c.442A>G, NM_001352311.2:c.232A>G, NM_001352311.1:c.232A>G, NM_001352306.2:c.466A>G, NM_001352306.1:c.466A>G, NM_001352310.2:c.232A>G, NM_001352310.1:c.232A>G, NM_001352312.2:c.232A>G, NM_001352312.1:c.232A>G, NM_001352309.2:c.232A>G, NM_001352309.1:c.232A>G, NM_001330415.2:c.460A>G, NM_001330415.1:c.460A>G, NM_001352305.2:c.457A>G, NM_001352305.1:c.457A>G, NM_001352307.2:c.442A>G, NM_001352307.1:c.442A>G, NM_001352314.2:c.232A>G, NM_001352314.1:c.232A>G, NM_001352313.2:c.232A>G, NM_001352313.1:c.232A>G, NM_001352321.2:c.442A>G, NM_001352321.1:c.442A>G, NM_001352316.2:c.232A>G, NM_001352316.1:c.232A>G, NM_001352317.2:c.232A>G, NM_001352317.1:c.232A>G, NM_001352319.2:c.229A>G, NM_001352319.1:c.229A>G, NM_001352308.2:c.460A>G, NM_001352308.1:c.460A>G, NM_001170808.2:c.442A>G, NM_001170808.1:c.442A>G, NM_001352315.2:c.439A>G, NM_001352315.1:c.439A>G, NM_001352320.2:c.232A>G, NM_001352320.1:c.232A>G, NM_001352318.2:c.232A>G, NM_001352318.1:c.232A>G, NM_001352323.2:c.442A>G, NM_001352323.1:c.442A>G, NM_001352322.2:c.442A>G, NM_001352322.1:c.442A>G, NM_001170803.2:c.442A>G, NM_001170803.1:c.442A>G, NM_001352325.2:c.442A>G, NM_001352325.1:c.442A>G, NM_001352326.2:c.442A>G, NM_001352326.1:c.442A>G, NM_001352324.2:c.232A>G, NM_001352324.1:c.232A>G, NM_001352304.2:c.232A>G, NM_001352304.1:c.232A>G, NM_001170804.2:c.442A>G, NM_001170804.1:c.442A>G, XM_047428212.1:c.232A>G, XM_047428213.1:c.232A>G, XM_047428210.1:c.232A>G, XM_047428216.1:c.232A>G, XM_047428202.1:c.484A>G, XM_047428203.1:c.466A>G, XM_047428215.1:c.232A>G, XM_047428218.1:c.232A>G, XM_047428211.1:c.232A>G, XM_047428219.1:c.232A>G, XM_047428224.1:c.232A>G, XM_047428225.1:c.232A>G, XM_047428217.1:c.232A>G, XM_047428214.1:c.232A>G, XM_047428205.1:c.484A>G, XM_047428204.1:c.484A>G, XM_047428207.1:c.466A>G, XM_047428206.1:c.466A>G, XM_047428208.1:c.460A>G, XM_047428209.1:c.457A>G, XM_047428220.1:c.439A>G, XM_047428226.1:c.232A>G, XM_047428222.1:c.484A>G, XM_047428223.1:c.466A>G, XM_047428227.1:c.439A>G, XM_047428228.1:c.484A>G, XM_047428229.1:c.466A>G, XM_047428230.1:c.439A>G, NR_033200.1:n.693A>G, XM_047428233.1:c.466A>G, XM_047428231.1:c.466A>G, NP_443111.4:p.Ser148Gly, NP_954658.2:p.Ser147Gly, XP_016874240.1:p.Ser78Gly, XP_016874242.1:p.Ser78Gly, NP_954660.1:p.Ser148Gly, NP_001339240.1:p.Ser78Gly, NP_001339235.1:p.Ser156Gly, NP_001339239.1:p.Ser78Gly, NP_001339241.1:p.Ser78Gly, NP_001339238.1:p.Ser78Gly, NP_001317344.1:p.Ser154Gly, NP_001339234.1:p.Ser153Gly, NP_001339236.1:p.Ser148Gly, NP_001339243.1:p.Ser78Gly, NP_001339242.1:p.Ser78Gly, NP_001339250.1:p.Ser148Gly, NP_001339245.1:p.Ser78Gly, NP_001339246.1:p.Ser78Gly, NP_001339248.1:p.Ser77Gly, NP_001339237.1:p.Ser154Gly, NP_001164279.1:p.Ser148Gly, NP_001339244.1:p.Ser147Gly, NP_001339249.1:p.Ser78Gly, NP_001339247.1:p.Ser78Gly, NP_001339252.1:p.Ser148Gly, NP_001339251.1:p.Ser148Gly, NP_001164274.1:p.Ser148Gly, NP_001339254.1:p.Ser148Gly, NP_001339255.1:p.Ser148Gly, NP_001339253.1:p.Ser78Gly, NP_001339233.1:p.Ser78Gly, NP_001164275.1:p.Ser148Gly, XP_047284168.1:p.Ser78Gly, XP_047284169.1:p.Ser78Gly, XP_047284166.1:p.Ser78Gly, XP_047284172.1:p.Ser78Gly, XP_047284158.1:p.Ser162Gly, XP_047284159.1:p.Ser156Gly, XP_047284171.1:p.Ser78Gly, XP_047284174.1:p.Ser78Gly, XP_047284167.1:p.Ser78Gly, XP_047284175.1:p.Ser78Gly, XP_047284180.1:p.Ser78Gly, XP_047284181.1:p.Ser78Gly, XP_047284173.1:p.Ser78Gly, XP_047284170.1:p.Ser78Gly, XP_047284161.1:p.Ser162Gly, XP_047284160.1:p.Ser162Gly, XP_047284163.1:p.Ser156Gly, XP_047284162.1:p.Ser156Gly, XP_047284164.1:p.Ser154Gly, XP_047284165.1:p.Ser153Gly, XP_047284176.1:p.Ser147Gly, XP_047284182.1:p.Ser78Gly, XP_047284178.1:p.Ser162Gly, XP_047284179.1:p.Ser156Gly, XP_047284183.1:p.Ser147Gly, XP_047284184.1:p.Ser162Gly, XP_047284185.1:p.Ser156Gly, XP_047284186.1:p.Ser147Gly, XP_047284189.1:p.Ser156Gly, XP_047284187.1:p.Ser156Gly

        4.

        rs1481692284 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          12:50466968 (GRCh38)
          12:50860751 (GRCh37)
          Canonical SPDI:
          NC_000012.12:50466967:C:G
          Gene:
          LARP4 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.50466968C>G, NC_000012.11:g.50860751C>G, NM_052879.5:c.1393C>G, NM_052879.4:c.1393C>G, NM_199188.3:c.1390C>G, NM_199188.2:c.1390C>G, XM_017018751.3:c.1183C>G, XM_017018751.2:c.1183C>G, XM_017018751.1:c.1183C>G, XM_017018753.3:c.1183C>G, XM_017018753.2:c.1183C>G, XM_017018753.1:c.1183C>G, NM_199190.3:c.1180C>G, NM_199190.2:c.1180C>G, NM_001352311.2:c.1183C>G, NM_001352311.1:c.1183C>G, NM_001352306.2:c.1363C>G, NM_001352306.1:c.1363C>G, NM_001352310.2:c.1183C>G, NM_001352310.1:c.1183C>G, NM_001352312.2:c.1183C>G, NM_001352312.1:c.1183C>G, NM_001352309.2:c.1183C>G, NM_001352309.1:c.1183C>G, NM_001330415.2:c.1411C>G, NM_001330415.1:c.1411C>G, NM_001352305.2:c.1408C>G, NM_001352305.1:c.1408C>G, NM_001352307.2:c.1339C>G, NM_001352307.1:c.1339C>G, NM_001352314.2:c.1183C>G, NM_001352314.1:c.1183C>G, NM_001352313.2:c.1183C>G, NM_001352313.1:c.1183C>G, NM_001352321.2:c.1393C>G, NM_001352321.1:c.1393C>G, NM_001352316.2:c.970C>G, NM_001352316.1:c.970C>G, NM_001352317.2:c.970C>G, NM_001352317.1:c.970C>G, NM_001352319.2:c.967C>G, NM_001352319.1:c.967C>G, NM_001352308.2:c.1198C>G, NM_001352308.1:c.1198C>G, NM_001170808.2:c.1180C>G, NM_001170808.1:c.1180C>G, NM_001352315.2:c.1177C>G, NM_001352315.1:c.1177C>G, NM_001352320.2:c.970C>G, NM_001352320.1:c.970C>G, NM_001352318.2:c.970C>G, NM_001352318.1:c.970C>G, NM_001352323.2:c.1180C>G, NM_001352323.1:c.1180C>G, NM_001352322.2:c.1180C>G, NM_001352322.1:c.1180C>G, NM_001170803.2:c.967C>G, NM_001170803.1:c.967C>G, XM_047428212.1:c.1183C>G, XM_047428213.1:c.1183C>G, XM_047428210.1:c.1183C>G, XM_047428216.1:c.1183C>G, XM_047428202.1:c.1435C>G, XM_047428203.1:c.1417C>G, XM_047428215.1:c.1183C>G, XM_047428218.1:c.1183C>G, XM_047428211.1:c.1183C>G, XM_047428219.1:c.1183C>G, XM_047428224.1:c.1183C>G, XM_047428225.1:c.1183C>G, XM_047428217.1:c.1183C>G, XM_047428214.1:c.1183C>G, XM_047428205.1:c.1222C>G, XM_047428204.1:c.1222C>G, XM_047428207.1:c.1204C>G, XM_047428206.1:c.1204C>G, XM_047428208.1:c.1198C>G, XM_047428209.1:c.1195C>G, XM_047428220.1:c.1177C>G, XM_047428226.1:c.970C>G, XM_047428222.1:c.1009C>G, XM_047428223.1:c.991C>G, XM_047428227.1:c.964C>G, XM_047428228.1:c.1435C>G, XM_047428229.1:c.1417C>G, XM_047428230.1:c.1390C>G, XM_047428233.1:c.1204C>G, XM_047428231.1:c.1204C>G, NP_443111.4:p.Pro465Ala, NP_954658.2:p.Pro464Ala, XP_016874240.1:p.Pro395Ala, XP_016874242.1:p.Pro395Ala, NP_954660.1:p.Pro394Ala, NP_001339240.1:p.Pro395Ala, NP_001339235.1:p.Pro455Ala, NP_001339239.1:p.Pro395Ala, NP_001339241.1:p.Pro395Ala, NP_001339238.1:p.Pro395Ala, NP_001317344.1:p.Pro471Ala, NP_001339234.1:p.Pro470Ala, NP_001339236.1:p.Pro447Ala, NP_001339243.1:p.Pro395Ala, NP_001339242.1:p.Pro395Ala, NP_001339250.1:p.Pro465Ala, NP_001339245.1:p.Pro324Ala, NP_001339246.1:p.Pro324Ala, NP_001339248.1:p.Pro323Ala, NP_001339237.1:p.Pro400Ala, NP_001164279.1:p.Pro394Ala, NP_001339244.1:p.Pro393Ala, NP_001339249.1:p.Pro324Ala, NP_001339247.1:p.Pro324Ala, NP_001339252.1:p.Pro394Ala, NP_001339251.1:p.Pro394Ala, NP_001164274.1:p.Pro323Ala, XP_047284168.1:p.Pro395Ala, XP_047284169.1:p.Pro395Ala, XP_047284166.1:p.Pro395Ala, XP_047284172.1:p.Pro395Ala, XP_047284158.1:p.Pro479Ala, XP_047284159.1:p.Pro473Ala, XP_047284171.1:p.Pro395Ala, XP_047284174.1:p.Pro395Ala, XP_047284167.1:p.Pro395Ala, XP_047284175.1:p.Pro395Ala, XP_047284180.1:p.Pro395Ala, XP_047284181.1:p.Pro395Ala, XP_047284173.1:p.Pro395Ala, XP_047284170.1:p.Pro395Ala, XP_047284161.1:p.Pro408Ala, XP_047284160.1:p.Pro408Ala, XP_047284163.1:p.Pro402Ala, XP_047284162.1:p.Pro402Ala, XP_047284164.1:p.Pro400Ala, XP_047284165.1:p.Pro399Ala, XP_047284176.1:p.Pro393Ala, XP_047284182.1:p.Pro324Ala, XP_047284178.1:p.Pro337Ala, XP_047284179.1:p.Pro331Ala, XP_047284183.1:p.Pro322Ala, XP_047284184.1:p.Pro479Ala, XP_047284185.1:p.Pro473Ala, XP_047284186.1:p.Pro464Ala, XP_047284189.1:p.Pro402Ala, XP_047284187.1:p.Pro402Ala

          5.

          rs1481589594 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:50454323 (GRCh38)
            12:50848106 (GRCh37)
            Canonical SPDI:
            NC_000012.12:50454322:C:A
            Gene:
            LARP4 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.50454323C>A, NC_000012.11:g.50848106C>A, NM_052879.5:c.1027C>A, NM_052879.4:c.1027C>A, NM_199188.3:c.1024C>A, NM_199188.2:c.1024C>A, XM_017018751.3:c.817C>A, XM_017018751.2:c.817C>A, XM_017018751.1:c.817C>A, XM_017018753.3:c.817C>A, XM_017018753.2:c.817C>A, XM_017018753.1:c.817C>A, NM_199190.3:c.814C>A, NM_199190.2:c.814C>A, NM_001352311.2:c.817C>A, NM_001352311.1:c.817C>A, NM_001352306.2:c.997C>A, NM_001352306.1:c.997C>A, NM_001352310.2:c.817C>A, NM_001352310.1:c.817C>A, NM_001352312.2:c.817C>A, NM_001352312.1:c.817C>A, NM_001352309.2:c.817C>A, NM_001352309.1:c.817C>A, NM_001330415.2:c.1045C>A, NM_001330415.1:c.1045C>A, NM_001352305.2:c.1042C>A, NM_001352305.1:c.1042C>A, NM_001352307.2:c.973C>A, NM_001352307.1:c.973C>A, NM_001352314.2:c.817C>A, NM_001352314.1:c.817C>A, NM_001352313.2:c.817C>A, NM_001352313.1:c.817C>A, NM_001352321.2:c.1027C>A, NM_001352321.1:c.1027C>A, NM_001352316.2:c.604C>A, NM_001352316.1:c.604C>A, NM_001352317.2:c.604C>A, NM_001352317.1:c.604C>A, NM_001352319.2:c.601C>A, NM_001352319.1:c.601C>A, NM_001352308.2:c.832C>A, NM_001352308.1:c.832C>A, NM_001170808.2:c.1027C>A, NM_001170808.1:c.1027C>A, NM_001352315.2:c.811C>A, NM_001352315.1:c.811C>A, NM_001352320.2:c.604C>A, NM_001352320.1:c.604C>A, NM_001352318.2:c.817C>A, NM_001352318.1:c.817C>A, NM_001352323.2:c.1027C>A, NM_001352323.1:c.1027C>A, NM_001352322.2:c.814C>A, NM_001352322.1:c.814C>A, NM_001170803.2:c.814C>A, NM_001170803.1:c.814C>A, NM_001352325.2:c.1027C>A, NM_001352325.1:c.1027C>A, NM_001352326.2:c.814C>A, NM_001352326.1:c.814C>A, NM_001352324.2:c.817C>A, NM_001352324.1:c.817C>A, NM_001352304.2:c.817C>A, NM_001352304.1:c.817C>A, NM_001170804.2:c.1027C>A, NM_001170804.1:c.1027C>A, XM_047428212.1:c.817C>A, XM_047428213.1:c.817C>A, XM_047428210.1:c.817C>A, XM_047428216.1:c.817C>A, XM_047428202.1:c.1069C>A, XM_047428203.1:c.1051C>A, XM_047428215.1:c.817C>A, XM_047428218.1:c.817C>A, XM_047428211.1:c.817C>A, XM_047428219.1:c.817C>A, XM_047428224.1:c.817C>A, XM_047428225.1:c.817C>A, XM_047428217.1:c.817C>A, XM_047428214.1:c.817C>A, XM_047428205.1:c.1069C>A, XM_047428204.1:c.856C>A, XM_047428207.1:c.1051C>A, XM_047428206.1:c.838C>A, XM_047428208.1:c.1045C>A, XM_047428209.1:c.829C>A, XM_047428220.1:c.1024C>A, XM_047428226.1:c.604C>A, XM_047428222.1:c.856C>A, XM_047428223.1:c.838C>A, XM_047428227.1:c.811C>A, XM_047428228.1:c.1069C>A, XM_047428229.1:c.1051C>A, XM_047428230.1:c.1024C>A, NR_033200.1:n.1278C>A, XM_047428233.1:c.1051C>A, XM_047428231.1:c.838C>A, NP_443111.4:p.Pro343Thr, NP_954658.2:p.Pro342Thr, XP_016874240.1:p.Pro273Thr, XP_016874242.1:p.Pro273Thr, NP_954660.1:p.Pro272Thr, NP_001339240.1:p.Pro273Thr, NP_001339235.1:p.Pro333Thr, NP_001339239.1:p.Pro273Thr, NP_001339241.1:p.Pro273Thr, NP_001339238.1:p.Pro273Thr, NP_001317344.1:p.Pro349Thr, NP_001339234.1:p.Pro348Thr, NP_001339236.1:p.Pro325Thr, NP_001339243.1:p.Pro273Thr, NP_001339242.1:p.Pro273Thr, NP_001339250.1:p.Pro343Thr, NP_001339245.1:p.Pro202Thr, NP_001339246.1:p.Pro202Thr, NP_001339248.1:p.Pro201Thr, NP_001339237.1:p.Pro278Thr, NP_001164279.1:p.Pro343Thr, NP_001339244.1:p.Pro271Thr, NP_001339249.1:p.Pro202Thr, NP_001339247.1:p.Pro273Thr, NP_001339252.1:p.Pro343Thr, NP_001339251.1:p.Pro272Thr, NP_001164274.1:p.Pro272Thr, NP_001339254.1:p.Pro343Thr, NP_001339255.1:p.Pro272Thr, NP_001339253.1:p.Pro273Thr, NP_001339233.1:p.Pro273Thr, NP_001164275.1:p.Pro343Thr, XP_047284168.1:p.Pro273Thr, XP_047284169.1:p.Pro273Thr, XP_047284166.1:p.Pro273Thr, XP_047284172.1:p.Pro273Thr, XP_047284158.1:p.Pro357Thr, XP_047284159.1:p.Pro351Thr, XP_047284171.1:p.Pro273Thr, XP_047284174.1:p.Pro273Thr, XP_047284167.1:p.Pro273Thr, XP_047284175.1:p.Pro273Thr, XP_047284180.1:p.Pro273Thr, XP_047284181.1:p.Pro273Thr, XP_047284173.1:p.Pro273Thr, XP_047284170.1:p.Pro273Thr, XP_047284161.1:p.Pro357Thr, XP_047284160.1:p.Pro286Thr, XP_047284163.1:p.Pro351Thr, XP_047284162.1:p.Pro280Thr, XP_047284164.1:p.Pro349Thr, XP_047284165.1:p.Pro277Thr, XP_047284176.1:p.Pro342Thr, XP_047284182.1:p.Pro202Thr, XP_047284178.1:p.Pro286Thr, XP_047284179.1:p.Pro280Thr, XP_047284183.1:p.Pro271Thr, XP_047284184.1:p.Pro357Thr, XP_047284185.1:p.Pro351Thr, XP_047284186.1:p.Pro342Thr, XP_047284189.1:p.Pro351Thr, XP_047284187.1:p.Pro280Thr

            6.

            rs1480591174 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              12:50461150 (GRCh38)
              12:50854933 (GRCh37)
              Canonical SPDI:
              NC_000012.12:50461149:T:G
              Gene:
              LARP4 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.50461150T>G, NC_000012.11:g.50854933T>G, NM_052879.5:c.1137T>G, NM_052879.4:c.1137T>G, NM_199188.3:c.1134T>G, NM_199188.2:c.1134T>G, XM_017018751.3:c.927T>G, XM_017018751.2:c.927T>G, XM_017018751.1:c.927T>G, XM_017018753.3:c.927T>G, XM_017018753.2:c.927T>G, XM_017018753.1:c.927T>G, NM_199190.3:c.924T>G, NM_199190.2:c.924T>G, NM_001352311.2:c.927T>G, NM_001352311.1:c.927T>G, NM_001352306.2:c.1107T>G, NM_001352306.1:c.1107T>G, NM_001352310.2:c.927T>G, NM_001352310.1:c.927T>G, NM_001352312.2:c.927T>G, NM_001352312.1:c.927T>G, NM_001352309.2:c.927T>G, NM_001352309.1:c.927T>G, NM_001330415.2:c.1155T>G, NM_001330415.1:c.1155T>G, NM_001352305.2:c.1152T>G, NM_001352305.1:c.1152T>G, NM_001352307.2:c.1083T>G, NM_001352307.1:c.1083T>G, NM_001352314.2:c.927T>G, NM_001352314.1:c.927T>G, NM_001352313.2:c.927T>G, NM_001352313.1:c.927T>G, NM_001352321.2:c.1137T>G, NM_001352321.1:c.1137T>G, NM_001352316.2:c.714T>G, NM_001352316.1:c.714T>G, NM_001352317.2:c.714T>G, NM_001352317.1:c.714T>G, NM_001352319.2:c.711T>G, NM_001352319.1:c.711T>G, NM_001352308.2:c.942T>G, NM_001352308.1:c.942T>G, NM_001352315.2:c.921T>G, NM_001352315.1:c.921T>G, NM_001352320.2:c.714T>G, NM_001352320.1:c.714T>G, NM_001352322.2:c.924T>G, NM_001352322.1:c.924T>G, NM_001352324.2:c.927T>G, NM_001352324.1:c.927T>G, NM_001352304.2:c.927T>G, NM_001352304.1:c.927T>G, NM_001170804.2:c.1137T>G, NM_001170804.1:c.1137T>G, XM_047428212.1:c.927T>G, XM_047428213.1:c.927T>G, XM_047428210.1:c.927T>G, XM_047428216.1:c.927T>G, XM_047428202.1:c.1179T>G, XM_047428203.1:c.1161T>G, XM_047428215.1:c.927T>G, XM_047428218.1:c.927T>G, XM_047428211.1:c.927T>G, XM_047428219.1:c.927T>G, XM_047428224.1:c.927T>G, XM_047428225.1:c.927T>G, XM_047428217.1:c.927T>G, XM_047428214.1:c.927T>G, XM_047428204.1:c.966T>G, XM_047428206.1:c.948T>G, XM_047428209.1:c.939T>G, XM_047428226.1:c.714T>G, XM_047428228.1:c.1179T>G, XM_047428229.1:c.1161T>G, XM_047428230.1:c.1134T>G, NR_033200.1:n.1388T>G, XM_047428231.1:c.948T>G, NP_443111.4:p.Phe379Leu, NP_954658.2:p.Phe378Leu, XP_016874240.1:p.Phe309Leu, XP_016874242.1:p.Phe309Leu, NP_954660.1:p.Phe308Leu, NP_001339240.1:p.Phe309Leu, NP_001339235.1:p.Phe369Leu, NP_001339239.1:p.Phe309Leu, NP_001339241.1:p.Phe309Leu, NP_001339238.1:p.Phe309Leu, NP_001317344.1:p.Phe385Leu, NP_001339234.1:p.Phe384Leu, NP_001339236.1:p.Phe361Leu, NP_001339243.1:p.Phe309Leu, NP_001339242.1:p.Phe309Leu, NP_001339250.1:p.Phe379Leu, NP_001339245.1:p.Phe238Leu, NP_001339246.1:p.Phe238Leu, NP_001339248.1:p.Phe237Leu, NP_001339237.1:p.Phe314Leu, NP_001339244.1:p.Phe307Leu, NP_001339249.1:p.Phe238Leu, NP_001339251.1:p.Phe308Leu, NP_001339253.1:p.Phe309Leu, NP_001339233.1:p.Phe309Leu, NP_001164275.1:p.Phe379Leu, XP_047284168.1:p.Phe309Leu, XP_047284169.1:p.Phe309Leu, XP_047284166.1:p.Phe309Leu, XP_047284172.1:p.Phe309Leu, XP_047284158.1:p.Phe393Leu, XP_047284159.1:p.Phe387Leu, XP_047284171.1:p.Phe309Leu, XP_047284174.1:p.Phe309Leu, XP_047284167.1:p.Phe309Leu, XP_047284175.1:p.Phe309Leu, XP_047284180.1:p.Phe309Leu, XP_047284181.1:p.Phe309Leu, XP_047284173.1:p.Phe309Leu, XP_047284170.1:p.Phe309Leu, XP_047284160.1:p.Phe322Leu, XP_047284162.1:p.Phe316Leu, XP_047284165.1:p.Phe313Leu, XP_047284182.1:p.Phe238Leu, XP_047284184.1:p.Phe393Leu, XP_047284185.1:p.Phe387Leu, XP_047284186.1:p.Phe378Leu, XP_047284187.1:p.Phe316Leu

              7.

              rs1479399817 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:50461328 (GRCh38)
                12:50855111 (GRCh37)
                Canonical SPDI:
                NC_000012.12:50461327:G:A
                Gene:
                LARP4 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.50461328G>A, NC_000012.11:g.50855111G>A, NM_052879.5:c.1315G>A, NM_052879.4:c.1315G>A, NM_199188.3:c.1312G>A, NM_199188.2:c.1312G>A, XM_017018751.3:c.1105G>A, XM_017018751.2:c.1105G>A, XM_017018751.1:c.1105G>A, XM_017018753.3:c.1105G>A, XM_017018753.2:c.1105G>A, XM_017018753.1:c.1105G>A, NM_199190.3:c.1102G>A, NM_199190.2:c.1102G>A, NM_001352311.2:c.1105G>A, NM_001352311.1:c.1105G>A, NM_001352306.2:c.1285G>A, NM_001352306.1:c.1285G>A, NM_001352310.2:c.1105G>A, NM_001352310.1:c.1105G>A, NM_001352312.2:c.1105G>A, NM_001352312.1:c.1105G>A, NM_001352309.2:c.1105G>A, NM_001352309.1:c.1105G>A, NM_001330415.2:c.1333G>A, NM_001330415.1:c.1333G>A, NM_001352305.2:c.1330G>A, NM_001352305.1:c.1330G>A, NM_001352307.2:c.1261G>A, NM_001352307.1:c.1261G>A, NM_001352314.2:c.1105G>A, NM_001352314.1:c.1105G>A, NM_001352313.2:c.1105G>A, NM_001352313.1:c.1105G>A, NM_001352321.2:c.1315G>A, NM_001352321.1:c.1315G>A, NM_001352316.2:c.892G>A, NM_001352316.1:c.892G>A, NM_001352317.2:c.892G>A, NM_001352317.1:c.892G>A, NM_001352319.2:c.889G>A, NM_001352319.1:c.889G>A, NM_001352308.2:c.1120G>A, NM_001352308.1:c.1120G>A, NM_001352315.2:c.1099G>A, NM_001352315.1:c.1099G>A, NM_001352320.2:c.892G>A, NM_001352320.1:c.892G>A, NM_001352322.2:c.1102G>A, NM_001352322.1:c.1102G>A, NM_001352324.2:c.1105G>A, NM_001352324.1:c.1105G>A, NM_001352304.2:c.1105G>A, NM_001352304.1:c.1105G>A, NM_001170804.2:c.1315G>A, NM_001170804.1:c.1315G>A, XM_047428212.1:c.1105G>A, XM_047428213.1:c.1105G>A, XM_047428210.1:c.1105G>A, XM_047428216.1:c.1105G>A, XM_047428202.1:c.1357G>A, XM_047428203.1:c.1339G>A, XM_047428215.1:c.1105G>A, XM_047428218.1:c.1105G>A, XM_047428211.1:c.1105G>A, XM_047428219.1:c.1105G>A, XM_047428224.1:c.1105G>A, XM_047428225.1:c.1105G>A, XM_047428217.1:c.1105G>A, XM_047428214.1:c.1105G>A, XM_047428204.1:c.1144G>A, XM_047428206.1:c.1126G>A, XM_047428209.1:c.1117G>A, XM_047428226.1:c.892G>A, XM_047428228.1:c.1357G>A, XM_047428229.1:c.1339G>A, XM_047428230.1:c.1312G>A, NR_033200.1:n.1566G>A, XM_047428231.1:c.1126G>A, NP_443111.4:p.Gly439Arg, NP_954658.2:p.Gly438Arg, XP_016874240.1:p.Gly369Arg, XP_016874242.1:p.Gly369Arg, NP_954660.1:p.Gly368Arg, NP_001339240.1:p.Gly369Arg, NP_001339235.1:p.Gly429Arg, NP_001339239.1:p.Gly369Arg, NP_001339241.1:p.Gly369Arg, NP_001339238.1:p.Gly369Arg, NP_001317344.1:p.Gly445Arg, NP_001339234.1:p.Gly444Arg, NP_001339236.1:p.Gly421Arg, NP_001339243.1:p.Gly369Arg, NP_001339242.1:p.Gly369Arg, NP_001339250.1:p.Gly439Arg, NP_001339245.1:p.Gly298Arg, NP_001339246.1:p.Gly298Arg, NP_001339248.1:p.Gly297Arg, NP_001339237.1:p.Gly374Arg, NP_001339244.1:p.Gly367Arg, NP_001339249.1:p.Gly298Arg, NP_001339251.1:p.Gly368Arg, NP_001339253.1:p.Gly369Arg, NP_001339233.1:p.Gly369Arg, NP_001164275.1:p.Gly439Arg, XP_047284168.1:p.Gly369Arg, XP_047284169.1:p.Gly369Arg, XP_047284166.1:p.Gly369Arg, XP_047284172.1:p.Gly369Arg, XP_047284158.1:p.Gly453Arg, XP_047284159.1:p.Gly447Arg, XP_047284171.1:p.Gly369Arg, XP_047284174.1:p.Gly369Arg, XP_047284167.1:p.Gly369Arg, XP_047284175.1:p.Gly369Arg, XP_047284180.1:p.Gly369Arg, XP_047284181.1:p.Gly369Arg, XP_047284173.1:p.Gly369Arg, XP_047284170.1:p.Gly369Arg, XP_047284160.1:p.Gly382Arg, XP_047284162.1:p.Gly376Arg, XP_047284165.1:p.Gly373Arg, XP_047284182.1:p.Gly298Arg, XP_047284184.1:p.Gly453Arg, XP_047284185.1:p.Gly447Arg, XP_047284186.1:p.Gly438Arg, XP_047284187.1:p.Gly376Arg

                8.

                rs1478199731 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  12:50474095 (GRCh38)
                  12:50867878 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:50474094:A:C
                  Gene:
                  LARP4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  NC_000012.12:g.50474095A>C, NC_000012.11:g.50867878A>C, NM_052879.5:c.1764A>C, NM_052879.4:c.1764A>C, NM_199188.3:c.1761A>C, NM_199188.2:c.1761A>C, XM_017018751.3:c.1554A>C, XM_017018751.2:c.1554A>C, XM_017018751.1:c.1554A>C, XM_017018753.3:c.1554A>C, XM_017018753.2:c.1554A>C, XM_017018753.1:c.1554A>C, NM_199190.3:c.1551A>C, NM_199190.2:c.1551A>C, NM_001352311.2:c.1554A>C, NM_001352311.1:c.1554A>C, NM_001352306.2:c.1734A>C, NM_001352306.1:c.1734A>C, NM_001352310.2:c.1554A>C, NM_001352310.1:c.1554A>C, NM_001352312.2:c.1554A>C, NM_001352312.1:c.1554A>C, NM_001352309.2:c.1554A>C, NM_001352309.1:c.1554A>C, NM_001330415.2:c.1782A>C, NM_001330415.1:c.1782A>C, NM_001352305.2:c.1779A>C, NM_001352305.1:c.1779A>C, NM_001352307.2:c.1710A>C, NM_001352307.1:c.1710A>C, NM_001352314.2:c.1554A>C, NM_001352314.1:c.1554A>C, NM_001352313.2:c.1554A>C, NM_001352313.1:c.1554A>C, NM_001352321.2:c.1642A>C, NM_001352321.1:c.1642A>C, NM_001352316.2:c.1341A>C, NM_001352316.1:c.1341A>C, NM_001352317.2:c.1341A>C, NM_001352317.1:c.1341A>C, NM_001352319.2:c.1338A>C, NM_001352319.1:c.1338A>C, NM_001352308.2:c.1569A>C, NM_001352308.1:c.1569A>C, NM_001170808.2:c.1551A>C, NM_001170808.1:c.1551A>C, NM_001352315.2:c.1548A>C, NM_001352315.1:c.1548A>C, NM_001352320.2:c.1341A>C, NM_001352320.1:c.1341A>C, NM_001352318.2:c.1341A>C, NM_001352318.1:c.1341A>C, NM_001352323.2:c.1429A>C, NM_001352323.1:c.1429A>C, NM_001352322.2:c.1429A>C, NM_001352322.1:c.1429A>C, NM_001170803.2:c.1338A>C, NM_001170803.1:c.1338A>C, XM_047428212.1:c.1554A>C, XM_047428213.1:c.1554A>C, XM_047428210.1:c.1554A>C, XM_047428216.1:c.1554A>C, XM_047428202.1:c.1806A>C, XM_047428203.1:c.1788A>C, XM_047428215.1:c.1554A>C, XM_047428218.1:c.1554A>C, XM_047428211.1:c.1554A>C, XM_047428219.1:c.1554A>C, XM_047428224.1:c.1554A>C, XM_047428225.1:c.1554A>C, XM_047428217.1:c.1554A>C, XM_047428214.1:c.1554A>C, XM_047428205.1:c.1593A>C, XM_047428204.1:c.1593A>C, XM_047428207.1:c.1575A>C, XM_047428206.1:c.1575A>C, XM_047428208.1:c.1569A>C, XM_047428209.1:c.1566A>C, XM_047428220.1:c.1548A>C, XM_047428226.1:c.1341A>C, XM_047428222.1:c.1380A>C, XM_047428223.1:c.1362A>C, XM_047428227.1:c.1335A>C, XM_047428228.1:c.1684A>C, XM_047428229.1:c.1666A>C, XM_047428230.1:c.1639A>C, XM_047428233.1:c.1453A>C, XM_047428231.1:c.1453A>C, NP_001339250.1:p.Lys548Gln, NP_001339252.1:p.Lys477Gln, NP_001339251.1:p.Lys477Gln, XP_047284184.1:p.Lys562Gln, XP_047284185.1:p.Lys556Gln, XP_047284186.1:p.Lys547Gln, XP_047284189.1:p.Lys485Gln, XP_047284187.1:p.Lys485Gln

                  9.

                  rs1476634625 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    12:50428977 (GRCh38)
                    12:50822760 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:50428976:T:G
                    Gene:
                    LARP4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.50428977T>G, NC_000012.11:g.50822760T>G, NM_052879.5:c.209T>G, NM_052879.4:c.209T>G, NM_199188.3:c.206T>G, NM_199188.2:c.206T>G, XM_017018751.3:c.-2T>G, XM_017018751.2:c.-2T>G, XM_017018751.1:c.-2T>G, XM_017018753.3:c.-2T>G, XM_017018753.2:c.-2T>G, XM_017018753.1:c.-2T>G, NM_199190.3:c.209T>G, NM_199190.2:c.209T>G, NM_001352311.2:c.-2T>G, NM_001352311.1:c.-2T>G, NM_001352306.2:c.233T>G, NM_001352306.1:c.233T>G, NM_001352310.2:c.-2T>G, NM_001352310.1:c.-2T>G, NM_001352312.2:c.-2T>G, NM_001352312.1:c.-2T>G, NM_001352309.2:c.-2T>G, NM_001352309.1:c.-2T>G, NM_001330415.2:c.227T>G, NM_001330415.1:c.227T>G, NM_001352305.2:c.224T>G, NM_001352305.1:c.224T>G, NM_001352307.2:c.209T>G, NM_001352307.1:c.209T>G, NM_001352314.2:c.-2T>G, NM_001352314.1:c.-2T>G, NM_001352313.2:c.-2T>G, NM_001352313.1:c.-2T>G, NM_001352321.2:c.209T>G, NM_001352321.1:c.209T>G, NM_001352316.2:c.-2T>G, NM_001352316.1:c.-2T>G, NM_001352317.2:c.-2T>G, NM_001352317.1:c.-2T>G, NM_001352319.2:c.-2T>G, NM_001352319.1:c.-2T>G, NM_001352308.2:c.227T>G, NM_001352308.1:c.227T>G, NM_001170808.2:c.209T>G, NM_001170808.1:c.209T>G, NM_001352315.2:c.206T>G, NM_001352315.1:c.206T>G, NM_001352320.2:c.-2T>G, NM_001352320.1:c.-2T>G, NM_001352318.2:c.-2T>G, NM_001352318.1:c.-2T>G, NM_001352323.2:c.209T>G, NM_001352323.1:c.209T>G, NM_001352322.2:c.209T>G, NM_001352322.1:c.209T>G, NM_001170803.2:c.209T>G, NM_001170803.1:c.209T>G, NM_001352325.2:c.209T>G, NM_001352325.1:c.209T>G, NM_001352326.2:c.209T>G, NM_001352326.1:c.209T>G, NM_001352324.2:c.-2T>G, NM_001352324.1:c.-2T>G, NM_001352304.2:c.-2T>G, NM_001352304.1:c.-2T>G, NM_001170804.2:c.209T>G, NM_001170804.1:c.209T>G, XM_047428212.1:c.-2T>G, XM_047428213.1:c.-2T>G, XM_047428210.1:c.-2T>G, XM_047428216.1:c.-2T>G, XM_047428202.1:c.251T>G, XM_047428203.1:c.233T>G, XM_047428215.1:c.-2T>G, XM_047428218.1:c.-2T>G, XM_047428211.1:c.-2T>G, XM_047428219.1:c.-2T>G, XM_047428224.1:c.-2T>G, XM_047428225.1:c.-2T>G, XM_047428217.1:c.-2T>G, XM_047428214.1:c.-2T>G, XM_047428205.1:c.251T>G, XM_047428204.1:c.251T>G, XM_047428207.1:c.233T>G, XM_047428206.1:c.233T>G, XM_047428208.1:c.227T>G, XM_047428209.1:c.224T>G, XM_047428220.1:c.206T>G, XM_047428226.1:c.-2T>G, XM_047428222.1:c.251T>G, XM_047428223.1:c.233T>G, XM_047428227.1:c.206T>G, XM_047428228.1:c.251T>G, XM_047428229.1:c.233T>G, XM_047428230.1:c.206T>G, NR_033200.1:n.460T>G, XM_047428233.1:c.233T>G, XM_047428231.1:c.233T>G, NP_443111.4:p.Val70Gly, NP_954658.2:p.Val69Gly, NP_954660.1:p.Val70Gly, NP_001339235.1:p.Val78Gly, NP_001317344.1:p.Val76Gly, NP_001339234.1:p.Val75Gly, NP_001339236.1:p.Val70Gly, NP_001339250.1:p.Val70Gly, NP_001339237.1:p.Val76Gly, NP_001164279.1:p.Val70Gly, NP_001339244.1:p.Val69Gly, NP_001339252.1:p.Val70Gly, NP_001339251.1:p.Val70Gly, NP_001164274.1:p.Val70Gly, NP_001339254.1:p.Val70Gly, NP_001339255.1:p.Val70Gly, NP_001164275.1:p.Val70Gly, XP_047284158.1:p.Val84Gly, XP_047284159.1:p.Val78Gly, XP_047284161.1:p.Val84Gly, XP_047284160.1:p.Val84Gly, XP_047284163.1:p.Val78Gly, XP_047284162.1:p.Val78Gly, XP_047284164.1:p.Val76Gly, XP_047284165.1:p.Val75Gly, XP_047284176.1:p.Val69Gly, XP_047284178.1:p.Val84Gly, XP_047284179.1:p.Val78Gly, XP_047284183.1:p.Val69Gly, XP_047284184.1:p.Val84Gly, XP_047284185.1:p.Val78Gly, XP_047284186.1:p.Val69Gly, XP_047284189.1:p.Val78Gly, XP_047284187.1:p.Val78Gly

                    10.

                    rs1473413238 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      12:50430525 (GRCh38)
                      12:50824308 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:50430524:A:T
                      Gene:
                      LARP4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.50430525A>T, NC_000012.11:g.50824308A>T, NM_052879.5:c.353A>T, NM_052879.4:c.353A>T, NM_199188.3:c.350A>T, NM_199188.2:c.350A>T, XM_017018751.3:c.143A>T, XM_017018751.2:c.143A>T, XM_017018751.1:c.143A>T, XM_017018753.3:c.143A>T, XM_017018753.2:c.143A>T, XM_017018753.1:c.143A>T, NM_199190.3:c.353A>T, NM_199190.2:c.353A>T, NM_001352311.2:c.143A>T, NM_001352311.1:c.143A>T, NM_001352306.2:c.377A>T, NM_001352306.1:c.377A>T, NM_001352310.2:c.143A>T, NM_001352310.1:c.143A>T, NM_001352312.2:c.143A>T, NM_001352312.1:c.143A>T, NM_001352309.2:c.143A>T, NM_001352309.1:c.143A>T, NM_001330415.2:c.371A>T, NM_001330415.1:c.371A>T, NM_001352305.2:c.368A>T, NM_001352305.1:c.368A>T, NM_001352307.2:c.353A>T, NM_001352307.1:c.353A>T, NM_001352314.2:c.143A>T, NM_001352314.1:c.143A>T, NM_001352313.2:c.143A>T, NM_001352313.1:c.143A>T, NM_001352321.2:c.353A>T, NM_001352321.1:c.353A>T, NM_001352316.2:c.143A>T, NM_001352316.1:c.143A>T, NM_001352317.2:c.143A>T, NM_001352317.1:c.143A>T, NM_001352319.2:c.140A>T, NM_001352319.1:c.140A>T, NM_001352308.2:c.371A>T, NM_001352308.1:c.371A>T, NM_001170808.2:c.353A>T, NM_001170808.1:c.353A>T, NM_001352315.2:c.350A>T, NM_001352315.1:c.350A>T, NM_001352320.2:c.143A>T, NM_001352320.1:c.143A>T, NM_001352318.2:c.143A>T, NM_001352318.1:c.143A>T, NM_001352323.2:c.353A>T, NM_001352323.1:c.353A>T, NM_001352322.2:c.353A>T, NM_001352322.1:c.353A>T, NM_001170803.2:c.353A>T, NM_001170803.1:c.353A>T, NM_001352325.2:c.353A>T, NM_001352325.1:c.353A>T, NM_001352326.2:c.353A>T, NM_001352326.1:c.353A>T, NM_001352324.2:c.143A>T, NM_001352324.1:c.143A>T, NM_001352304.2:c.143A>T, NM_001352304.1:c.143A>T, NM_001170804.2:c.353A>T, NM_001170804.1:c.353A>T, XM_047428212.1:c.143A>T, XM_047428213.1:c.143A>T, XM_047428210.1:c.143A>T, XM_047428216.1:c.143A>T, XM_047428202.1:c.395A>T, XM_047428203.1:c.377A>T, XM_047428215.1:c.143A>T, XM_047428218.1:c.143A>T, XM_047428211.1:c.143A>T, XM_047428219.1:c.143A>T, XM_047428224.1:c.143A>T, XM_047428225.1:c.143A>T, XM_047428217.1:c.143A>T, XM_047428214.1:c.143A>T, XM_047428205.1:c.395A>T, XM_047428204.1:c.395A>T, XM_047428207.1:c.377A>T, XM_047428206.1:c.377A>T, XM_047428208.1:c.371A>T, XM_047428209.1:c.368A>T, XM_047428220.1:c.350A>T, XM_047428226.1:c.143A>T, XM_047428222.1:c.395A>T, XM_047428223.1:c.377A>T, XM_047428227.1:c.350A>T, XM_047428228.1:c.395A>T, XM_047428229.1:c.377A>T, XM_047428230.1:c.350A>T, NR_033200.1:n.604A>T, XM_047428233.1:c.377A>T, XM_047428231.1:c.377A>T, NP_443111.4:p.Asp118Val, NP_954658.2:p.Asp117Val, XP_016874240.1:p.Asp48Val, XP_016874242.1:p.Asp48Val, NP_954660.1:p.Asp118Val, NP_001339240.1:p.Asp48Val, NP_001339235.1:p.Asp126Val, NP_001339239.1:p.Asp48Val, NP_001339241.1:p.Asp48Val, NP_001339238.1:p.Asp48Val, NP_001317344.1:p.Asp124Val, NP_001339234.1:p.Asp123Val, NP_001339236.1:p.Asp118Val, NP_001339243.1:p.Asp48Val, NP_001339242.1:p.Asp48Val, NP_001339250.1:p.Asp118Val, NP_001339245.1:p.Asp48Val, NP_001339246.1:p.Asp48Val, NP_001339248.1:p.Asp47Val, NP_001339237.1:p.Asp124Val, NP_001164279.1:p.Asp118Val, NP_001339244.1:p.Asp117Val, NP_001339249.1:p.Asp48Val, NP_001339247.1:p.Asp48Val, NP_001339252.1:p.Asp118Val, NP_001339251.1:p.Asp118Val, NP_001164274.1:p.Asp118Val, NP_001339254.1:p.Asp118Val, NP_001339255.1:p.Asp118Val, NP_001339253.1:p.Asp48Val, NP_001339233.1:p.Asp48Val, NP_001164275.1:p.Asp118Val, XP_047284168.1:p.Asp48Val, XP_047284169.1:p.Asp48Val, XP_047284166.1:p.Asp48Val, XP_047284172.1:p.Asp48Val, XP_047284158.1:p.Asp132Val, XP_047284159.1:p.Asp126Val, XP_047284171.1:p.Asp48Val, XP_047284174.1:p.Asp48Val, XP_047284167.1:p.Asp48Val, XP_047284175.1:p.Asp48Val, XP_047284180.1:p.Asp48Val, XP_047284181.1:p.Asp48Val, XP_047284173.1:p.Asp48Val, XP_047284170.1:p.Asp48Val, XP_047284161.1:p.Asp132Val, XP_047284160.1:p.Asp132Val, XP_047284163.1:p.Asp126Val, XP_047284162.1:p.Asp126Val, XP_047284164.1:p.Asp124Val, XP_047284165.1:p.Asp123Val, XP_047284176.1:p.Asp117Val, XP_047284182.1:p.Asp48Val, XP_047284178.1:p.Asp132Val, XP_047284179.1:p.Asp126Val, XP_047284183.1:p.Asp117Val, XP_047284184.1:p.Asp132Val, XP_047284185.1:p.Asp126Val, XP_047284186.1:p.Asp117Val, XP_047284189.1:p.Asp126Val, XP_047284187.1:p.Asp126Val

                      11.

                      rs1469344529 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:50453466 (GRCh38)
                        12:50847249 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:50453465:A:G
                        Gene:
                        LARP4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.50453466A>G, NC_000012.11:g.50847249A>G, NM_052879.5:c.811A>G, NM_052879.4:c.811A>G, NM_199188.3:c.808A>G, NM_199188.2:c.808A>G, XM_017018751.3:c.601A>G, XM_017018751.2:c.601A>G, XM_017018751.1:c.601A>G, XM_017018753.3:c.601A>G, XM_017018753.2:c.601A>G, XM_017018753.1:c.601A>G, NM_001352311.2:c.601A>G, NM_001352311.1:c.601A>G, NM_001352306.2:c.781A>G, NM_001352306.1:c.781A>G, NM_001352310.2:c.601A>G, NM_001352310.1:c.601A>G, NM_001352312.2:c.601A>G, NM_001352312.1:c.601A>G, NM_001352309.2:c.601A>G, NM_001352309.1:c.601A>G, NM_001330415.2:c.829A>G, NM_001330415.1:c.829A>G, NM_001352305.2:c.826A>G, NM_001352305.1:c.826A>G, NM_001352307.2:c.757A>G, NM_001352307.1:c.757A>G, NM_001352314.2:c.601A>G, NM_001352314.1:c.601A>G, NM_001352313.2:c.601A>G, NM_001352313.1:c.601A>G, NM_001352321.2:c.811A>G, NM_001352321.1:c.811A>G, NM_001170808.2:c.811A>G, NM_001170808.1:c.811A>G, NM_001352318.2:c.601A>G, NM_001352318.1:c.601A>G, NM_001352323.2:c.811A>G, NM_001352323.1:c.811A>G, NM_001352325.2:c.811A>G, NM_001352325.1:c.811A>G, NM_001352324.2:c.601A>G, NM_001352324.1:c.601A>G, NM_001352304.2:c.601A>G, NM_001352304.1:c.601A>G, NM_001170804.2:c.811A>G, NM_001170804.1:c.811A>G, XM_047428212.1:c.601A>G, XM_047428213.1:c.601A>G, XM_047428210.1:c.601A>G, XM_047428216.1:c.601A>G, XM_047428202.1:c.853A>G, XM_047428203.1:c.835A>G, XM_047428215.1:c.601A>G, XM_047428218.1:c.601A>G, XM_047428211.1:c.601A>G, XM_047428219.1:c.601A>G, XM_047428224.1:c.601A>G, XM_047428225.1:c.601A>G, XM_047428217.1:c.601A>G, XM_047428214.1:c.601A>G, XM_047428205.1:c.853A>G, XM_047428207.1:c.835A>G, XM_047428208.1:c.829A>G, XM_047428220.1:c.808A>G, XM_047428228.1:c.853A>G, XM_047428229.1:c.835A>G, XM_047428230.1:c.808A>G, NR_033200.1:n.1062A>G, XM_047428233.1:c.835A>G, NP_443111.4:p.Ile271Val, NP_954658.2:p.Ile270Val, XP_016874240.1:p.Ile201Val, XP_016874242.1:p.Ile201Val, NP_001339240.1:p.Ile201Val, NP_001339235.1:p.Ile261Val, NP_001339239.1:p.Ile201Val, NP_001339241.1:p.Ile201Val, NP_001339238.1:p.Ile201Val, NP_001317344.1:p.Ile277Val, NP_001339234.1:p.Ile276Val, NP_001339236.1:p.Ile253Val, NP_001339243.1:p.Ile201Val, NP_001339242.1:p.Ile201Val, NP_001339250.1:p.Ile271Val, NP_001164279.1:p.Ile271Val, NP_001339247.1:p.Ile201Val, NP_001339252.1:p.Ile271Val, NP_001339254.1:p.Ile271Val, NP_001339253.1:p.Ile201Val, NP_001339233.1:p.Ile201Val, NP_001164275.1:p.Ile271Val, XP_047284168.1:p.Ile201Val, XP_047284169.1:p.Ile201Val, XP_047284166.1:p.Ile201Val, XP_047284172.1:p.Ile201Val, XP_047284158.1:p.Ile285Val, XP_047284159.1:p.Ile279Val, XP_047284171.1:p.Ile201Val, XP_047284174.1:p.Ile201Val, XP_047284167.1:p.Ile201Val, XP_047284175.1:p.Ile201Val, XP_047284180.1:p.Ile201Val, XP_047284181.1:p.Ile201Val, XP_047284173.1:p.Ile201Val, XP_047284170.1:p.Ile201Val, XP_047284161.1:p.Ile285Val, XP_047284163.1:p.Ile279Val, XP_047284164.1:p.Ile277Val, XP_047284176.1:p.Ile270Val, XP_047284184.1:p.Ile285Val, XP_047284185.1:p.Ile279Val, XP_047284186.1:p.Ile270Val, XP_047284189.1:p.Ile279Val

                        12.

                        rs1469241927 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          12:50401016 (GRCh38)
                          12:50794799 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:50401015:G:C
                          Gene:
                          LARP4 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000026/7 (TOPMED)
                          C=0.000029/4 (GnomAD)
                          HGVS:
                          NC_000012.12:g.50401016G>C, NC_000012.11:g.50794799G>C, NM_052879.5:c.6G>C, NM_052879.4:c.6G>C, NM_199188.3:c.6G>C, NM_199188.2:c.6G>C, NM_199190.3:c.6G>C, NM_199190.2:c.6G>C, NM_001352311.2:c.-294G>C, NM_001352311.1:c.-294G>C, NM_001352306.2:c.-110G>C, NM_001352306.1:c.-110G>C, NM_001352310.2:c.-269G>C, NM_001352310.1:c.-269G>C, NM_001352312.2:c.-254G>C, NM_001352312.1:c.-254G>C, NM_001352309.2:c.-251G>C, NM_001352309.1:c.-251G>C, NM_001330415.2:c.6G>C, NM_001330415.1:c.6G>C, NM_001352305.2:c.6G>C, NM_001352305.1:c.6G>C, NM_001352307.2:c.6G>C, NM_001352307.1:c.6G>C, NM_001352321.2:c.6G>C, NM_001352321.1:c.6G>C, NM_001352316.2:c.-294G>C, NM_001352316.1:c.-294G>C, NM_001352317.2:c.-254G>C, NM_001352317.1:c.-254G>C, NM_001352319.2:c.-254G>C, NM_001352319.1:c.-254G>C, NM_001352308.2:c.6G>C, NM_001352308.1:c.6G>C, NM_001170808.2:c.6G>C, NM_001170808.1:c.6G>C, NM_001352315.2:c.6G>C, NM_001352315.1:c.6G>C, NM_001352320.2:c.-254G>C, NM_001352320.1:c.-254G>C, NM_001352323.2:c.6G>C, NM_001352323.1:c.6G>C, NM_001352322.2:c.6G>C, NM_001352322.1:c.6G>C, NM_001170803.2:c.6G>C, NM_001170803.1:c.6G>C, NM_001352325.2:c.6G>C, NM_001352325.1:c.6G>C, NM_001352326.2:c.6G>C, NM_001352326.1:c.6G>C, NM_001352324.2:c.-294G>C, NM_001352324.1:c.-294G>C, NM_001352304.2:c.-254G>C, NM_001352304.1:c.-254G>C, NM_001170804.2:c.6G>C, NM_001170804.1:c.6G>C, XM_047428212.1:c.-343G>C, XM_047428213.1:c.-340G>C, XM_047428208.1:c.6G>C, XM_047428209.1:c.6G>C, XM_047428220.1:c.6G>C, XM_047428227.1:c.6G>C, XM_047428230.1:c.6G>C, NR_033200.1:n.208G>C, NP_443111.4:p.Leu2Phe, NP_954658.2:p.Leu2Phe, NP_954660.1:p.Leu2Phe, NP_001317344.1:p.Leu2Phe, NP_001339234.1:p.Leu2Phe, NP_001339236.1:p.Leu2Phe, NP_001339250.1:p.Leu2Phe, NP_001339237.1:p.Leu2Phe, NP_001164279.1:p.Leu2Phe, NP_001339244.1:p.Leu2Phe, NP_001339252.1:p.Leu2Phe, NP_001339251.1:p.Leu2Phe, NP_001164274.1:p.Leu2Phe, NP_001339254.1:p.Leu2Phe, NP_001339255.1:p.Leu2Phe, NP_001164275.1:p.Leu2Phe, XP_047284164.1:p.Leu2Phe, XP_047284165.1:p.Leu2Phe, XP_047284176.1:p.Leu2Phe, XP_047284183.1:p.Leu2Phe, XP_047284186.1:p.Leu2Phe

                          13.

                          rs1468223852 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:50461241 (GRCh38)
                            12:50855024 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:50461240:G:A
                            Gene:
                            LARP4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.50461241G>A, NC_000012.11:g.50855024G>A, NM_052879.5:c.1228G>A, NM_052879.4:c.1228G>A, NM_199188.3:c.1225G>A, NM_199188.2:c.1225G>A, XM_017018751.3:c.1018G>A, XM_017018751.2:c.1018G>A, XM_017018751.1:c.1018G>A, XM_017018753.3:c.1018G>A, XM_017018753.2:c.1018G>A, XM_017018753.1:c.1018G>A, NM_199190.3:c.1015G>A, NM_199190.2:c.1015G>A, NM_001352311.2:c.1018G>A, NM_001352311.1:c.1018G>A, NM_001352306.2:c.1198G>A, NM_001352306.1:c.1198G>A, NM_001352310.2:c.1018G>A, NM_001352310.1:c.1018G>A, NM_001352312.2:c.1018G>A, NM_001352312.1:c.1018G>A, NM_001352309.2:c.1018G>A, NM_001352309.1:c.1018G>A, NM_001330415.2:c.1246G>A, NM_001330415.1:c.1246G>A, NM_001352305.2:c.1243G>A, NM_001352305.1:c.1243G>A, NM_001352307.2:c.1174G>A, NM_001352307.1:c.1174G>A, NM_001352314.2:c.1018G>A, NM_001352314.1:c.1018G>A, NM_001352313.2:c.1018G>A, NM_001352313.1:c.1018G>A, NM_001352321.2:c.1228G>A, NM_001352321.1:c.1228G>A, NM_001352316.2:c.805G>A, NM_001352316.1:c.805G>A, NM_001352317.2:c.805G>A, NM_001352317.1:c.805G>A, NM_001352319.2:c.802G>A, NM_001352319.1:c.802G>A, NM_001352308.2:c.1033G>A, NM_001352308.1:c.1033G>A, NM_001352315.2:c.1012G>A, NM_001352315.1:c.1012G>A, NM_001352320.2:c.805G>A, NM_001352320.1:c.805G>A, NM_001352322.2:c.1015G>A, NM_001352322.1:c.1015G>A, NM_001352324.2:c.1018G>A, NM_001352324.1:c.1018G>A, NM_001352304.2:c.1018G>A, NM_001352304.1:c.1018G>A, NM_001170804.2:c.1228G>A, NM_001170804.1:c.1228G>A, XM_047428212.1:c.1018G>A, XM_047428213.1:c.1018G>A, XM_047428210.1:c.1018G>A, XM_047428216.1:c.1018G>A, XM_047428202.1:c.1270G>A, XM_047428203.1:c.1252G>A, XM_047428215.1:c.1018G>A, XM_047428218.1:c.1018G>A, XM_047428211.1:c.1018G>A, XM_047428219.1:c.1018G>A, XM_047428224.1:c.1018G>A, XM_047428225.1:c.1018G>A, XM_047428217.1:c.1018G>A, XM_047428214.1:c.1018G>A, XM_047428204.1:c.1057G>A, XM_047428206.1:c.1039G>A, XM_047428209.1:c.1030G>A, XM_047428226.1:c.805G>A, XM_047428228.1:c.1270G>A, XM_047428229.1:c.1252G>A, XM_047428230.1:c.1225G>A, NR_033200.1:n.1479G>A, XM_047428231.1:c.1039G>A, NP_443111.4:p.Ala410Thr, NP_954658.2:p.Ala409Thr, XP_016874240.1:p.Ala340Thr, XP_016874242.1:p.Ala340Thr, NP_954660.1:p.Ala339Thr, NP_001339240.1:p.Ala340Thr, NP_001339235.1:p.Ala400Thr, NP_001339239.1:p.Ala340Thr, NP_001339241.1:p.Ala340Thr, NP_001339238.1:p.Ala340Thr, NP_001317344.1:p.Ala416Thr, NP_001339234.1:p.Ala415Thr, NP_001339236.1:p.Ala392Thr, NP_001339243.1:p.Ala340Thr, NP_001339242.1:p.Ala340Thr, NP_001339250.1:p.Ala410Thr, NP_001339245.1:p.Ala269Thr, NP_001339246.1:p.Ala269Thr, NP_001339248.1:p.Ala268Thr, NP_001339237.1:p.Ala345Thr, NP_001339244.1:p.Ala338Thr, NP_001339249.1:p.Ala269Thr, NP_001339251.1:p.Ala339Thr, NP_001339253.1:p.Ala340Thr, NP_001339233.1:p.Ala340Thr, NP_001164275.1:p.Ala410Thr, XP_047284168.1:p.Ala340Thr, XP_047284169.1:p.Ala340Thr, XP_047284166.1:p.Ala340Thr, XP_047284172.1:p.Ala340Thr, XP_047284158.1:p.Ala424Thr, XP_047284159.1:p.Ala418Thr, XP_047284171.1:p.Ala340Thr, XP_047284174.1:p.Ala340Thr, XP_047284167.1:p.Ala340Thr, XP_047284175.1:p.Ala340Thr, XP_047284180.1:p.Ala340Thr, XP_047284181.1:p.Ala340Thr, XP_047284173.1:p.Ala340Thr, XP_047284170.1:p.Ala340Thr, XP_047284160.1:p.Ala353Thr, XP_047284162.1:p.Ala347Thr, XP_047284165.1:p.Ala344Thr, XP_047284182.1:p.Ala269Thr, XP_047284184.1:p.Ala424Thr, XP_047284185.1:p.Ala418Thr, XP_047284186.1:p.Ala409Thr, XP_047284187.1:p.Ala347Thr

                            14.

                            rs1467850082 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:50435567 (GRCh38)
                              12:50829350 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:50435566:A:G
                              Gene:
                              LARP4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000111/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.50435567A>G, NC_000012.11:g.50829350A>G, NM_052879.5:c.478A>G, NM_052879.4:c.478A>G, NM_199188.3:c.475A>G, NM_199188.2:c.475A>G, XM_017018751.3:c.268A>G, XM_017018751.2:c.268A>G, XM_017018751.1:c.268A>G, XM_017018753.3:c.268A>G, XM_017018753.2:c.268A>G, XM_017018753.1:c.268A>G, NM_199190.3:c.478A>G, NM_199190.2:c.478A>G, NM_001352311.2:c.268A>G, NM_001352311.1:c.268A>G, NM_001352306.2:c.502A>G, NM_001352306.1:c.502A>G, NM_001352310.2:c.268A>G, NM_001352310.1:c.268A>G, NM_001352312.2:c.268A>G, NM_001352312.1:c.268A>G, NM_001352309.2:c.268A>G, NM_001352309.1:c.268A>G, NM_001330415.2:c.496A>G, NM_001330415.1:c.496A>G, NM_001352305.2:c.493A>G, NM_001352305.1:c.493A>G, NM_001352307.2:c.478A>G, NM_001352307.1:c.478A>G, NM_001352314.2:c.268A>G, NM_001352314.1:c.268A>G, NM_001352313.2:c.268A>G, NM_001352313.1:c.268A>G, NM_001352321.2:c.478A>G, NM_001352321.1:c.478A>G, NM_001352316.2:c.268A>G, NM_001352316.1:c.268A>G, NM_001352317.2:c.268A>G, NM_001352317.1:c.268A>G, NM_001352319.2:c.265A>G, NM_001352319.1:c.265A>G, NM_001352308.2:c.496A>G, NM_001352308.1:c.496A>G, NM_001170808.2:c.478A>G, NM_001170808.1:c.478A>G, NM_001352315.2:c.475A>G, NM_001352315.1:c.475A>G, NM_001352320.2:c.268A>G, NM_001352320.1:c.268A>G, NM_001352318.2:c.268A>G, NM_001352318.1:c.268A>G, NM_001352323.2:c.478A>G, NM_001352323.1:c.478A>G, NM_001352322.2:c.478A>G, NM_001352322.1:c.478A>G, NM_001170803.2:c.478A>G, NM_001170803.1:c.478A>G, NM_001352325.2:c.478A>G, NM_001352325.1:c.478A>G, NM_001352326.2:c.478A>G, NM_001352326.1:c.478A>G, NM_001352324.2:c.268A>G, NM_001352324.1:c.268A>G, NM_001352304.2:c.268A>G, NM_001352304.1:c.268A>G, NM_001170804.2:c.478A>G, NM_001170804.1:c.478A>G, XM_047428212.1:c.268A>G, XM_047428213.1:c.268A>G, XM_047428210.1:c.268A>G, XM_047428216.1:c.268A>G, XM_047428202.1:c.520A>G, XM_047428203.1:c.502A>G, XM_047428215.1:c.268A>G, XM_047428218.1:c.268A>G, XM_047428211.1:c.268A>G, XM_047428219.1:c.268A>G, XM_047428224.1:c.268A>G, XM_047428225.1:c.268A>G, XM_047428217.1:c.268A>G, XM_047428214.1:c.268A>G, XM_047428205.1:c.520A>G, XM_047428204.1:c.520A>G, XM_047428207.1:c.502A>G, XM_047428206.1:c.502A>G, XM_047428208.1:c.496A>G, XM_047428209.1:c.493A>G, XM_047428220.1:c.475A>G, XM_047428226.1:c.268A>G, XM_047428222.1:c.520A>G, XM_047428223.1:c.502A>G, XM_047428227.1:c.475A>G, XM_047428228.1:c.520A>G, XM_047428229.1:c.502A>G, XM_047428230.1:c.475A>G, NR_033200.1:n.729A>G, XM_047428233.1:c.502A>G, XM_047428231.1:c.502A>G, NP_443111.4:p.Met160Val, NP_954658.2:p.Met159Val, XP_016874240.1:p.Met90Val, XP_016874242.1:p.Met90Val, NP_954660.1:p.Met160Val, NP_001339240.1:p.Met90Val, NP_001339235.1:p.Met168Val, NP_001339239.1:p.Met90Val, NP_001339241.1:p.Met90Val, NP_001339238.1:p.Met90Val, NP_001317344.1:p.Met166Val, NP_001339234.1:p.Met165Val, NP_001339236.1:p.Met160Val, NP_001339243.1:p.Met90Val, NP_001339242.1:p.Met90Val, NP_001339250.1:p.Met160Val, NP_001339245.1:p.Met90Val, NP_001339246.1:p.Met90Val, NP_001339248.1:p.Met89Val, NP_001339237.1:p.Met166Val, NP_001164279.1:p.Met160Val, NP_001339244.1:p.Met159Val, NP_001339249.1:p.Met90Val, NP_001339247.1:p.Met90Val, NP_001339252.1:p.Met160Val, NP_001339251.1:p.Met160Val, NP_001164274.1:p.Met160Val, NP_001339254.1:p.Met160Val, NP_001339255.1:p.Met160Val, NP_001339253.1:p.Met90Val, NP_001339233.1:p.Met90Val, NP_001164275.1:p.Met160Val, XP_047284168.1:p.Met90Val, XP_047284169.1:p.Met90Val, XP_047284166.1:p.Met90Val, XP_047284172.1:p.Met90Val, XP_047284158.1:p.Met174Val, XP_047284159.1:p.Met168Val, XP_047284171.1:p.Met90Val, XP_047284174.1:p.Met90Val, XP_047284167.1:p.Met90Val, XP_047284175.1:p.Met90Val, XP_047284180.1:p.Met90Val, XP_047284181.1:p.Met90Val, XP_047284173.1:p.Met90Val, XP_047284170.1:p.Met90Val, XP_047284161.1:p.Met174Val, XP_047284160.1:p.Met174Val, XP_047284163.1:p.Met168Val, XP_047284162.1:p.Met168Val, XP_047284164.1:p.Met166Val, XP_047284165.1:p.Met165Val, XP_047284176.1:p.Met159Val, XP_047284182.1:p.Met90Val, XP_047284178.1:p.Met174Val, XP_047284179.1:p.Met168Val, XP_047284183.1:p.Met159Val, XP_047284184.1:p.Met174Val, XP_047284185.1:p.Met168Val, XP_047284186.1:p.Met159Val, XP_047284189.1:p.Met168Val, XP_047284187.1:p.Met168Val

                              15.

                              rs1463498908 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:50427838 (GRCh38)
                                12:50821621 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:50427837:C:T
                                Gene:
                                LARP4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000031/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000012.12:g.50427838C>T, NC_000012.11:g.50821621C>T, NM_052879.5:c.95C>T, NM_052879.4:c.95C>T, NM_199188.3:c.92C>T, NM_199188.2:c.92C>T, XM_017018751.3:c.-116C>T, XM_017018751.2:c.-116C>T, XM_017018751.1:c.-116C>T, XM_017018753.3:c.-116C>T, XM_017018753.2:c.-116C>T, XM_017018753.1:c.-116C>T, NM_199190.3:c.95C>T, NM_199190.2:c.95C>T, NM_001352311.2:c.-116C>T, NM_001352311.1:c.-116C>T, NM_001352306.2:c.119C>T, NM_001352306.1:c.119C>T, NM_001352310.2:c.-134C>T, NM_001352310.1:c.-134C>T, NM_001352312.2:c.-116C>T, NM_001352312.1:c.-116C>T, NM_001352309.2:c.-116C>T, NM_001352309.1:c.-116C>T, NM_001330415.2:c.95C>T, NM_001330415.1:c.95C>T, NM_001352305.2:c.92C>T, NM_001352305.1:c.92C>T, NM_001352307.2:c.95C>T, NM_001352307.1:c.95C>T, NM_001352314.2:c.-116C>T, NM_001352314.1:c.-116C>T, NM_001352313.2:c.-116C>T, NM_001352313.1:c.-116C>T, NM_001352321.2:c.95C>T, NM_001352321.1:c.95C>T, NM_001352316.2:c.-116C>T, NM_001352316.1:c.-116C>T, NM_001352317.2:c.-116C>T, NM_001352317.1:c.-116C>T, NM_001352319.2:c.-116C>T, NM_001352319.1:c.-116C>T, NM_001352308.2:c.95C>T, NM_001352308.1:c.95C>T, NM_001170808.2:c.95C>T, NM_001170808.1:c.95C>T, NM_001352315.2:c.92C>T, NM_001352315.1:c.92C>T, NM_001352320.2:c.-116C>T, NM_001352320.1:c.-116C>T, NM_001352318.2:c.-116C>T, NM_001352318.1:c.-116C>T, NM_001352323.2:c.95C>T, NM_001352323.1:c.95C>T, NM_001352322.2:c.95C>T, NM_001352322.1:c.95C>T, NM_001170803.2:c.95C>T, NM_001170803.1:c.95C>T, NM_001352325.2:c.95C>T, NM_001352325.1:c.95C>T, NM_001352326.2:c.95C>T, NM_001352326.1:c.95C>T, NM_001352324.2:c.-116C>T, NM_001352324.1:c.-116C>T, NM_001352304.2:c.-116C>T, NM_001352304.1:c.-116C>T, NM_001170804.2:c.95C>T, NM_001170804.1:c.95C>T, XM_047428212.1:c.-116C>T, XM_047428213.1:c.-116C>T, XM_047428210.1:c.-116C>T, XM_047428216.1:c.-116C>T, XM_047428202.1:c.119C>T, XM_047428203.1:c.119C>T, XM_047428215.1:c.-116C>T, XM_047428218.1:c.-116C>T, XM_047428211.1:c.-116C>T, XM_047428219.1:c.-116C>T, XM_047428224.1:c.-134C>T, XM_047428225.1:c.-134C>T, XM_047428217.1:c.-116C>T, XM_047428214.1:c.-116C>T, XM_047428205.1:c.119C>T, XM_047428204.1:c.119C>T, XM_047428207.1:c.119C>T, XM_047428206.1:c.119C>T, XM_047428208.1:c.95C>T, XM_047428209.1:c.92C>T, XM_047428220.1:c.92C>T, XM_047428226.1:c.-116C>T, XM_047428222.1:c.119C>T, XM_047428223.1:c.119C>T, XM_047428227.1:c.92C>T, XM_047428228.1:c.119C>T, XM_047428229.1:c.119C>T, XM_047428230.1:c.92C>T, NR_033200.1:n.346C>T, XM_047428233.1:c.119C>T, XM_047428231.1:c.119C>T, NP_443111.4:p.Ala32Val, NP_954658.2:p.Ala31Val, NP_954660.1:p.Ala32Val, NP_001339235.1:p.Ala40Val, NP_001317344.1:p.Ala32Val, NP_001339234.1:p.Ala31Val, NP_001339236.1:p.Ala32Val, NP_001339250.1:p.Ala32Val, NP_001339237.1:p.Ala32Val, NP_001164279.1:p.Ala32Val, NP_001339244.1:p.Ala31Val, NP_001339252.1:p.Ala32Val, NP_001339251.1:p.Ala32Val, NP_001164274.1:p.Ala32Val, NP_001339254.1:p.Ala32Val, NP_001339255.1:p.Ala32Val, NP_001164275.1:p.Ala32Val, XP_047284158.1:p.Ala40Val, XP_047284159.1:p.Ala40Val, XP_047284161.1:p.Ala40Val, XP_047284160.1:p.Ala40Val, XP_047284163.1:p.Ala40Val, XP_047284162.1:p.Ala40Val, XP_047284164.1:p.Ala32Val, XP_047284165.1:p.Ala31Val, XP_047284176.1:p.Ala31Val, XP_047284178.1:p.Ala40Val, XP_047284179.1:p.Ala40Val, XP_047284183.1:p.Ala31Val, XP_047284184.1:p.Ala40Val, XP_047284185.1:p.Ala40Val, XP_047284186.1:p.Ala31Val, XP_047284189.1:p.Ala40Val, XP_047284187.1:p.Ala40Val

                                16.

                                rs1462221049 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  12:50461208 (GRCh38)
                                  12:50854991 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:50461207:C:A
                                  Gene:
                                  LARP4 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.50461208C>A, NC_000012.11:g.50854991C>A, NM_052879.5:c.1195C>A, NM_052879.4:c.1195C>A, NM_199188.3:c.1192C>A, NM_199188.2:c.1192C>A, XM_017018751.3:c.985C>A, XM_017018751.2:c.985C>A, XM_017018751.1:c.985C>A, XM_017018753.3:c.985C>A, XM_017018753.2:c.985C>A, XM_017018753.1:c.985C>A, NM_199190.3:c.982C>A, NM_199190.2:c.982C>A, NM_001352311.2:c.985C>A, NM_001352311.1:c.985C>A, NM_001352306.2:c.1165C>A, NM_001352306.1:c.1165C>A, NM_001352310.2:c.985C>A, NM_001352310.1:c.985C>A, NM_001352312.2:c.985C>A, NM_001352312.1:c.985C>A, NM_001352309.2:c.985C>A, NM_001352309.1:c.985C>A, NM_001330415.2:c.1213C>A, NM_001330415.1:c.1213C>A, NM_001352305.2:c.1210C>A, NM_001352305.1:c.1210C>A, NM_001352307.2:c.1141C>A, NM_001352307.1:c.1141C>A, NM_001352314.2:c.985C>A, NM_001352314.1:c.985C>A, NM_001352313.2:c.985C>A, NM_001352313.1:c.985C>A, NM_001352321.2:c.1195C>A, NM_001352321.1:c.1195C>A, NM_001352316.2:c.772C>A, NM_001352316.1:c.772C>A, NM_001352317.2:c.772C>A, NM_001352317.1:c.772C>A, NM_001352319.2:c.769C>A, NM_001352319.1:c.769C>A, NM_001352308.2:c.1000C>A, NM_001352308.1:c.1000C>A, NM_001352315.2:c.979C>A, NM_001352315.1:c.979C>A, NM_001352320.2:c.772C>A, NM_001352320.1:c.772C>A, NM_001352322.2:c.982C>A, NM_001352322.1:c.982C>A, NM_001352324.2:c.985C>A, NM_001352324.1:c.985C>A, NM_001352304.2:c.985C>A, NM_001352304.1:c.985C>A, NM_001170804.2:c.1195C>A, NM_001170804.1:c.1195C>A, XM_047428212.1:c.985C>A, XM_047428213.1:c.985C>A, XM_047428210.1:c.985C>A, XM_047428216.1:c.985C>A, XM_047428202.1:c.1237C>A, XM_047428203.1:c.1219C>A, XM_047428215.1:c.985C>A, XM_047428218.1:c.985C>A, XM_047428211.1:c.985C>A, XM_047428219.1:c.985C>A, XM_047428224.1:c.985C>A, XM_047428225.1:c.985C>A, XM_047428217.1:c.985C>A, XM_047428214.1:c.985C>A, XM_047428204.1:c.1024C>A, XM_047428206.1:c.1006C>A, XM_047428209.1:c.997C>A, XM_047428226.1:c.772C>A, XM_047428228.1:c.1237C>A, XM_047428229.1:c.1219C>A, XM_047428230.1:c.1192C>A, NR_033200.1:n.1446C>A, XM_047428231.1:c.1006C>A, NP_443111.4:p.Gln399Lys, NP_954658.2:p.Gln398Lys, XP_016874240.1:p.Gln329Lys, XP_016874242.1:p.Gln329Lys, NP_954660.1:p.Gln328Lys, NP_001339240.1:p.Gln329Lys, NP_001339235.1:p.Gln389Lys, NP_001339239.1:p.Gln329Lys, NP_001339241.1:p.Gln329Lys, NP_001339238.1:p.Gln329Lys, NP_001317344.1:p.Gln405Lys, NP_001339234.1:p.Gln404Lys, NP_001339236.1:p.Gln381Lys, NP_001339243.1:p.Gln329Lys, NP_001339242.1:p.Gln329Lys, NP_001339250.1:p.Gln399Lys, NP_001339245.1:p.Gln258Lys, NP_001339246.1:p.Gln258Lys, NP_001339248.1:p.Gln257Lys, NP_001339237.1:p.Gln334Lys, NP_001339244.1:p.Gln327Lys, NP_001339249.1:p.Gln258Lys, NP_001339251.1:p.Gln328Lys, NP_001339253.1:p.Gln329Lys, NP_001339233.1:p.Gln329Lys, NP_001164275.1:p.Gln399Lys, XP_047284168.1:p.Gln329Lys, XP_047284169.1:p.Gln329Lys, XP_047284166.1:p.Gln329Lys, XP_047284172.1:p.Gln329Lys, XP_047284158.1:p.Gln413Lys, XP_047284159.1:p.Gln407Lys, XP_047284171.1:p.Gln329Lys, XP_047284174.1:p.Gln329Lys, XP_047284167.1:p.Gln329Lys, XP_047284175.1:p.Gln329Lys, XP_047284180.1:p.Gln329Lys, XP_047284181.1:p.Gln329Lys, XP_047284173.1:p.Gln329Lys, XP_047284170.1:p.Gln329Lys, XP_047284160.1:p.Gln342Lys, XP_047284162.1:p.Gln336Lys, XP_047284165.1:p.Gln333Lys, XP_047284182.1:p.Gln258Lys, XP_047284184.1:p.Gln413Lys, XP_047284185.1:p.Gln407Lys, XP_047284186.1:p.Gln398Lys, XP_047284187.1:p.Gln336Lys

                                  17.

                                  rs1459334779 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    12:50475707 (GRCh38)
                                    12:50869490 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:50475706:G:C
                                    Gene:
                                    LARP4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.50475707G>C, NC_000012.11:g.50869490G>C, NM_052879.5:c.2018G>C, NM_052879.4:c.2018G>C, NM_199188.3:c.2015G>C, NM_199188.2:c.2015G>C, XM_017018751.3:c.1808G>C, XM_017018751.2:c.1808G>C, XM_017018751.1:c.1808G>C, XM_017018753.3:c.1808G>C, XM_017018753.2:c.1808G>C, XM_017018753.1:c.1808G>C, NM_199190.3:c.1805G>C, NM_199190.2:c.1805G>C, NM_001352311.2:c.1808G>C, NM_001352311.1:c.1808G>C, NM_001352306.2:c.1988G>C, NM_001352306.1:c.1988G>C, NM_001352310.2:c.1808G>C, NM_001352310.1:c.1808G>C, NM_001352312.2:c.1808G>C, NM_001352312.1:c.1808G>C, NM_001352309.2:c.1808G>C, NM_001352309.1:c.1808G>C, NM_001330415.2:c.2036G>C, NM_001330415.1:c.2036G>C, NM_001352305.2:c.2033G>C, NM_001352305.1:c.2033G>C, NM_001352307.2:c.1964G>C, NM_001352307.1:c.1964G>C, NM_001352314.2:c.1808G>C, NM_001352314.1:c.1808G>C, NM_001352313.2:c.1808G>C, NM_001352313.1:c.1808G>C, NM_001352321.2:c.*219G>C, NM_001352321.1:c.*219G>C, NM_001352316.2:c.1595G>C, NM_001352316.1:c.1595G>C, NM_001352317.2:c.1595G>C, NM_001352317.1:c.1595G>C, NM_001352319.2:c.1592G>C, NM_001352319.1:c.1592G>C, NM_001352308.2:c.1823G>C, NM_001352308.1:c.1823G>C, NM_001170808.2:c.1805G>C, NM_001170808.1:c.1805G>C, NM_001352315.2:c.1802G>C, NM_001352315.1:c.1802G>C, NM_001352320.2:c.1535G>C, NM_001352320.1:c.1535G>C, NM_001352318.2:c.1595G>C, NM_001352318.1:c.1595G>C, NM_001352323.2:c.*219G>C, NM_001352323.1:c.*219G>C, NM_001352322.2:c.*219G>C, NM_001352322.1:c.*219G>C, NM_001170803.2:c.1592G>C, NM_001170803.1:c.1592G>C, XM_047428212.1:c.1808G>C, XM_047428213.1:c.1808G>C, XM_047428210.1:c.1808G>C, XM_047428216.1:c.1808G>C, XM_047428202.1:c.2060G>C, XM_047428203.1:c.2042G>C, XM_047428215.1:c.1808G>C, XM_047428218.1:c.1808G>C, XM_047428211.1:c.1808G>C, XM_047428219.1:c.1808G>C, XM_047428224.1:c.1808G>C, XM_047428225.1:c.1808G>C, XM_047428217.1:c.1808G>C, XM_047428214.1:c.1808G>C, XM_047428205.1:c.1847G>C, XM_047428204.1:c.1847G>C, XM_047428207.1:c.1829G>C, XM_047428206.1:c.1829G>C, XM_047428208.1:c.1823G>C, XM_047428209.1:c.1820G>C, XM_047428220.1:c.1802G>C, XM_047428226.1:c.1595G>C, XM_047428222.1:c.1634G>C, XM_047428223.1:c.1616G>C, XM_047428227.1:c.1589G>C, NP_443111.4:p.Ser673Thr, NP_954658.2:p.Ser672Thr, XP_016874240.1:p.Ser603Thr, XP_016874242.1:p.Ser603Thr, NP_954660.1:p.Ser602Thr, NP_001339240.1:p.Ser603Thr, NP_001339235.1:p.Ser663Thr, NP_001339239.1:p.Ser603Thr, NP_001339241.1:p.Ser603Thr, NP_001339238.1:p.Ser603Thr, NP_001317344.1:p.Ser679Thr, NP_001339234.1:p.Ser678Thr, NP_001339236.1:p.Ser655Thr, NP_001339243.1:p.Ser603Thr, NP_001339242.1:p.Ser603Thr, NP_001339245.1:p.Ser532Thr, NP_001339246.1:p.Ser532Thr, NP_001339248.1:p.Ser531Thr, NP_001339237.1:p.Ser608Thr, NP_001164279.1:p.Ser602Thr, NP_001339244.1:p.Ser601Thr, NP_001339249.1:p.Ser512Thr, NP_001339247.1:p.Ser532Thr, NP_001164274.1:p.Ser531Thr, XP_047284168.1:p.Ser603Thr, XP_047284169.1:p.Ser603Thr, XP_047284166.1:p.Ser603Thr, XP_047284172.1:p.Ser603Thr, XP_047284158.1:p.Ser687Thr, XP_047284159.1:p.Ser681Thr, XP_047284171.1:p.Ser603Thr, XP_047284174.1:p.Ser603Thr, XP_047284167.1:p.Ser603Thr, XP_047284175.1:p.Ser603Thr, XP_047284180.1:p.Ser603Thr, XP_047284181.1:p.Ser603Thr, XP_047284173.1:p.Ser603Thr, XP_047284170.1:p.Ser603Thr, XP_047284161.1:p.Ser616Thr, XP_047284160.1:p.Ser616Thr, XP_047284163.1:p.Ser610Thr, XP_047284162.1:p.Ser610Thr, XP_047284164.1:p.Ser608Thr, XP_047284165.1:p.Ser607Thr, XP_047284176.1:p.Ser601Thr, XP_047284182.1:p.Ser532Thr, XP_047284178.1:p.Ser545Thr, XP_047284179.1:p.Ser539Thr, XP_047284183.1:p.Ser530Thr

                                    18.

                                    rs1459080848 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      12:50474162 (GRCh38)
                                      12:50867945 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:50474161:C:G
                                      Gene:
                                      LARP4 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000009/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.50474162C>G, NC_000012.11:g.50867945C>G, NM_052879.5:c.1831C>G, NM_052879.4:c.1831C>G, NM_199188.3:c.1828C>G, NM_199188.2:c.1828C>G, XM_017018751.3:c.1621C>G, XM_017018751.2:c.1621C>G, XM_017018751.1:c.1621C>G, XM_017018753.3:c.1621C>G, XM_017018753.2:c.1621C>G, XM_017018753.1:c.1621C>G, NM_199190.3:c.1618C>G, NM_199190.2:c.1618C>G, NM_001352311.2:c.1621C>G, NM_001352311.1:c.1621C>G, NM_001352306.2:c.1801C>G, NM_001352306.1:c.1801C>G, NM_001352310.2:c.1621C>G, NM_001352310.1:c.1621C>G, NM_001352312.2:c.1621C>G, NM_001352312.1:c.1621C>G, NM_001352309.2:c.1621C>G, NM_001352309.1:c.1621C>G, NM_001330415.2:c.1849C>G, NM_001330415.1:c.1849C>G, NM_001352305.2:c.1846C>G, NM_001352305.1:c.1846C>G, NM_001352307.2:c.1777C>G, NM_001352307.1:c.1777C>G, NM_001352314.2:c.1621C>G, NM_001352314.1:c.1621C>G, NM_001352313.2:c.1621C>G, NM_001352313.1:c.1621C>G, NM_001352321.2:c.*32C>G, NM_001352321.1:c.*32C>G, NM_001352316.2:c.1408C>G, NM_001352316.1:c.1408C>G, NM_001352317.2:c.1408C>G, NM_001352317.1:c.1408C>G, NM_001352319.2:c.1405C>G, NM_001352319.1:c.1405C>G, NM_001352308.2:c.1636C>G, NM_001352308.1:c.1636C>G, NM_001170808.2:c.1618C>G, NM_001170808.1:c.1618C>G, NM_001352315.2:c.1615C>G, NM_001352315.1:c.1615C>G, NM_001352318.2:c.1408C>G, NM_001352318.1:c.1408C>G, NM_001352323.2:c.*32C>G, NM_001352323.1:c.*32C>G, NM_001352322.2:c.*32C>G, NM_001352322.1:c.*32C>G, NM_001170803.2:c.1405C>G, NM_001170803.1:c.1405C>G, XM_047428212.1:c.1621C>G, XM_047428213.1:c.1621C>G, XM_047428210.1:c.1621C>G, XM_047428216.1:c.1621C>G, XM_047428202.1:c.1873C>G, XM_047428203.1:c.1855C>G, XM_047428215.1:c.1621C>G, XM_047428218.1:c.1621C>G, XM_047428211.1:c.1621C>G, XM_047428219.1:c.1621C>G, XM_047428224.1:c.1621C>G, XM_047428225.1:c.1621C>G, XM_047428217.1:c.1621C>G, XM_047428214.1:c.1621C>G, XM_047428205.1:c.1660C>G, XM_047428204.1:c.1660C>G, XM_047428207.1:c.1642C>G, XM_047428206.1:c.1642C>G, XM_047428208.1:c.1636C>G, XM_047428209.1:c.1633C>G, XM_047428220.1:c.1615C>G, XM_047428226.1:c.1408C>G, XM_047428222.1:c.1447C>G, XM_047428223.1:c.1429C>G, XM_047428227.1:c.1402C>G, XM_047428228.1:c.*32C>G, XM_047428229.1:c.*32C>G, XM_047428230.1:c.*32C>G, XM_047428233.1:c.*32C>G, XM_047428231.1:c.*32C>G, NP_443111.4:p.Leu611Val, NP_954658.2:p.Leu610Val, XP_016874240.1:p.Leu541Val, XP_016874242.1:p.Leu541Val, NP_954660.1:p.Leu540Val, NP_001339240.1:p.Leu541Val, NP_001339235.1:p.Leu601Val, NP_001339239.1:p.Leu541Val, NP_001339241.1:p.Leu541Val, NP_001339238.1:p.Leu541Val, NP_001317344.1:p.Leu617Val, NP_001339234.1:p.Leu616Val, NP_001339236.1:p.Leu593Val, NP_001339243.1:p.Leu541Val, NP_001339242.1:p.Leu541Val, NP_001339245.1:p.Leu470Val, NP_001339246.1:p.Leu470Val, NP_001339248.1:p.Leu469Val, NP_001339237.1:p.Leu546Val, NP_001164279.1:p.Leu540Val, NP_001339244.1:p.Leu539Val, NP_001339247.1:p.Leu470Val, NP_001164274.1:p.Leu469Val, XP_047284168.1:p.Leu541Val, XP_047284169.1:p.Leu541Val, XP_047284166.1:p.Leu541Val, XP_047284172.1:p.Leu541Val, XP_047284158.1:p.Leu625Val, XP_047284159.1:p.Leu619Val, XP_047284171.1:p.Leu541Val, XP_047284174.1:p.Leu541Val, XP_047284167.1:p.Leu541Val, XP_047284175.1:p.Leu541Val, XP_047284180.1:p.Leu541Val, XP_047284181.1:p.Leu541Val, XP_047284173.1:p.Leu541Val, XP_047284170.1:p.Leu541Val, XP_047284161.1:p.Leu554Val, XP_047284160.1:p.Leu554Val, XP_047284163.1:p.Leu548Val, XP_047284162.1:p.Leu548Val, XP_047284164.1:p.Leu546Val, XP_047284165.1:p.Leu545Val, XP_047284176.1:p.Leu539Val, XP_047284182.1:p.Leu470Val, XP_047284178.1:p.Leu483Val, XP_047284179.1:p.Leu477Val, XP_047284183.1:p.Leu468Val

                                      19.

                                      rs1458649255 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        12:50475772 (GRCh38)
                                        12:50869555 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:50475771:C:T
                                        Gene:
                                        LARP4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.50475772C>T, NC_000012.11:g.50869555C>T, NM_052879.5:c.2083C>T, NM_052879.4:c.2083C>T, NM_199188.3:c.2080C>T, NM_199188.2:c.2080C>T, XM_017018751.3:c.1873C>T, XM_017018751.2:c.1873C>T, XM_017018751.1:c.1873C>T, XM_017018753.3:c.1873C>T, XM_017018753.2:c.1873C>T, XM_017018753.1:c.1873C>T, NM_199190.3:c.1870C>T, NM_199190.2:c.1870C>T, NM_001352311.2:c.1873C>T, NM_001352311.1:c.1873C>T, NM_001352306.2:c.2053C>T, NM_001352306.1:c.2053C>T, NM_001352310.2:c.1873C>T, NM_001352310.1:c.1873C>T, NM_001352312.2:c.1873C>T, NM_001352312.1:c.1873C>T, NM_001352309.2:c.1873C>T, NM_001352309.1:c.1873C>T, NM_001330415.2:c.2101C>T, NM_001330415.1:c.2101C>T, NM_001352305.2:c.2098C>T, NM_001352305.1:c.2098C>T, NM_001352307.2:c.2029C>T, NM_001352307.1:c.2029C>T, NM_001352314.2:c.1873C>T, NM_001352314.1:c.1873C>T, NM_001352313.2:c.1873C>T, NM_001352313.1:c.1873C>T, NM_001352321.2:c.*284C>T, NM_001352321.1:c.*284C>T, NM_001352316.2:c.1660C>T, NM_001352316.1:c.1660C>T, NM_001352317.2:c.1660C>T, NM_001352317.1:c.1660C>T, NM_001352319.2:c.1657C>T, NM_001352319.1:c.1657C>T, NM_001352308.2:c.1888C>T, NM_001352308.1:c.1888C>T, NM_001170808.2:c.1870C>T, NM_001170808.1:c.1870C>T, NM_001352315.2:c.1867C>T, NM_001352315.1:c.1867C>T, NM_001352320.2:c.1600C>T, NM_001352320.1:c.1600C>T, NM_001352318.2:c.1660C>T, NM_001352318.1:c.1660C>T, NM_001352323.2:c.*284C>T, NM_001352323.1:c.*284C>T, NM_001352322.2:c.*284C>T, NM_001352322.1:c.*284C>T, NM_001170803.2:c.1657C>T, NM_001170803.1:c.1657C>T, XM_047428212.1:c.1873C>T, XM_047428213.1:c.1873C>T, XM_047428210.1:c.1873C>T, XM_047428216.1:c.1873C>T, XM_047428202.1:c.2125C>T, XM_047428203.1:c.2107C>T, XM_047428215.1:c.1873C>T, XM_047428218.1:c.1873C>T, XM_047428211.1:c.1873C>T, XM_047428219.1:c.1873C>T, XM_047428224.1:c.1873C>T, XM_047428225.1:c.1873C>T, XM_047428217.1:c.1873C>T, XM_047428214.1:c.1873C>T, XM_047428205.1:c.1912C>T, XM_047428204.1:c.1912C>T, XM_047428207.1:c.1894C>T, XM_047428206.1:c.1894C>T, XM_047428208.1:c.1888C>T, XM_047428209.1:c.1885C>T, XM_047428220.1:c.1867C>T, XM_047428226.1:c.1660C>T, XM_047428222.1:c.1699C>T, XM_047428223.1:c.1681C>T, XM_047428227.1:c.1654C>T, NP_443111.4:p.Gln695Ter, NP_954658.2:p.Gln694Ter, XP_016874240.1:p.Gln625Ter, XP_016874242.1:p.Gln625Ter, NP_954660.1:p.Gln624Ter, NP_001339240.1:p.Gln625Ter, NP_001339235.1:p.Gln685Ter, NP_001339239.1:p.Gln625Ter, NP_001339241.1:p.Gln625Ter, NP_001339238.1:p.Gln625Ter, NP_001317344.1:p.Gln701Ter, NP_001339234.1:p.Gln700Ter, NP_001339236.1:p.Gln677Ter, NP_001339243.1:p.Gln625Ter, NP_001339242.1:p.Gln625Ter, NP_001339245.1:p.Gln554Ter, NP_001339246.1:p.Gln554Ter, NP_001339248.1:p.Gln553Ter, NP_001339237.1:p.Gln630Ter, NP_001164279.1:p.Gln624Ter, NP_001339244.1:p.Gln623Ter, NP_001339249.1:p.Gln534Ter, NP_001339247.1:p.Gln554Ter, NP_001164274.1:p.Gln553Ter, XP_047284168.1:p.Gln625Ter, XP_047284169.1:p.Gln625Ter, XP_047284166.1:p.Gln625Ter, XP_047284172.1:p.Gln625Ter, XP_047284158.1:p.Gln709Ter, XP_047284159.1:p.Gln703Ter, XP_047284171.1:p.Gln625Ter, XP_047284174.1:p.Gln625Ter, XP_047284167.1:p.Gln625Ter, XP_047284175.1:p.Gln625Ter, XP_047284180.1:p.Gln625Ter, XP_047284181.1:p.Gln625Ter, XP_047284173.1:p.Gln625Ter, XP_047284170.1:p.Gln625Ter, XP_047284161.1:p.Gln638Ter, XP_047284160.1:p.Gln638Ter, XP_047284163.1:p.Gln632Ter, XP_047284162.1:p.Gln632Ter, XP_047284164.1:p.Gln630Ter, XP_047284165.1:p.Gln629Ter, XP_047284176.1:p.Gln623Ter, XP_047284182.1:p.Gln554Ter, XP_047284178.1:p.Gln567Ter, XP_047284179.1:p.Gln561Ter, XP_047284183.1:p.Gln552Ter

                                        20.

                                        rs1457522009 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:50435595 (GRCh38)
                                          12:50829378 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:50435594:A:G
                                          Gene:
                                          LARP4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000012.12:g.50435595A>G, NC_000012.11:g.50829378A>G, NM_052879.5:c.506A>G, NM_052879.4:c.506A>G, NM_199188.3:c.503A>G, NM_199188.2:c.503A>G, XM_017018751.3:c.296A>G, XM_017018751.2:c.296A>G, XM_017018751.1:c.296A>G, XM_017018753.3:c.296A>G, XM_017018753.2:c.296A>G, XM_017018753.1:c.296A>G, NM_199190.3:c.506A>G, NM_199190.2:c.506A>G, NM_001352311.2:c.296A>G, NM_001352311.1:c.296A>G, NM_001352306.2:c.530A>G, NM_001352306.1:c.530A>G, NM_001352310.2:c.296A>G, NM_001352310.1:c.296A>G, NM_001352312.2:c.296A>G, NM_001352312.1:c.296A>G, NM_001352309.2:c.296A>G, NM_001352309.1:c.296A>G, NM_001330415.2:c.524A>G, NM_001330415.1:c.524A>G, NM_001352305.2:c.521A>G, NM_001352305.1:c.521A>G, NM_001352307.2:c.506A>G, NM_001352307.1:c.506A>G, NM_001352314.2:c.296A>G, NM_001352314.1:c.296A>G, NM_001352313.2:c.296A>G, NM_001352313.1:c.296A>G, NM_001352321.2:c.506A>G, NM_001352321.1:c.506A>G, NM_001352316.2:c.296A>G, NM_001352316.1:c.296A>G, NM_001352317.2:c.296A>G, NM_001352317.1:c.296A>G, NM_001352319.2:c.293A>G, NM_001352319.1:c.293A>G, NM_001352308.2:c.524A>G, NM_001352308.1:c.524A>G, NM_001170808.2:c.506A>G, NM_001170808.1:c.506A>G, NM_001352315.2:c.503A>G, NM_001352315.1:c.503A>G, NM_001352320.2:c.296A>G, NM_001352320.1:c.296A>G, NM_001352318.2:c.296A>G, NM_001352318.1:c.296A>G, NM_001352323.2:c.506A>G, NM_001352323.1:c.506A>G, NM_001352322.2:c.506A>G, NM_001352322.1:c.506A>G, NM_001170803.2:c.506A>G, NM_001170803.1:c.506A>G, NM_001352325.2:c.506A>G, NM_001352325.1:c.506A>G, NM_001352326.2:c.506A>G, NM_001352326.1:c.506A>G, NM_001352324.2:c.296A>G, NM_001352324.1:c.296A>G, NM_001352304.2:c.296A>G, NM_001352304.1:c.296A>G, NM_001170804.2:c.506A>G, NM_001170804.1:c.506A>G, XM_047428212.1:c.296A>G, XM_047428213.1:c.296A>G, XM_047428210.1:c.296A>G, XM_047428216.1:c.296A>G, XM_047428202.1:c.548A>G, XM_047428203.1:c.530A>G, XM_047428215.1:c.296A>G, XM_047428218.1:c.296A>G, XM_047428211.1:c.296A>G, XM_047428219.1:c.296A>G, XM_047428224.1:c.296A>G, XM_047428225.1:c.296A>G, XM_047428217.1:c.296A>G, XM_047428214.1:c.296A>G, XM_047428205.1:c.548A>G, XM_047428204.1:c.548A>G, XM_047428207.1:c.530A>G, XM_047428206.1:c.530A>G, XM_047428208.1:c.524A>G, XM_047428209.1:c.521A>G, XM_047428220.1:c.503A>G, XM_047428226.1:c.296A>G, XM_047428222.1:c.548A>G, XM_047428223.1:c.530A>G, XM_047428227.1:c.503A>G, XM_047428228.1:c.548A>G, XM_047428229.1:c.530A>G, XM_047428230.1:c.503A>G, NR_033200.1:n.757A>G, XM_047428233.1:c.530A>G, XM_047428231.1:c.530A>G, NP_443111.4:p.Asp169Gly, NP_954658.2:p.Asp168Gly, XP_016874240.1:p.Asp99Gly, XP_016874242.1:p.Asp99Gly, NP_954660.1:p.Asp169Gly, NP_001339240.1:p.Asp99Gly, NP_001339235.1:p.Asp177Gly, NP_001339239.1:p.Asp99Gly, NP_001339241.1:p.Asp99Gly, NP_001339238.1:p.Asp99Gly, NP_001317344.1:p.Asp175Gly, NP_001339234.1:p.Asp174Gly, NP_001339236.1:p.Asp169Gly, NP_001339243.1:p.Asp99Gly, NP_001339242.1:p.Asp99Gly, NP_001339250.1:p.Asp169Gly, NP_001339245.1:p.Asp99Gly, NP_001339246.1:p.Asp99Gly, NP_001339248.1:p.Asp98Gly, NP_001339237.1:p.Asp175Gly, NP_001164279.1:p.Asp169Gly, NP_001339244.1:p.Asp168Gly, NP_001339249.1:p.Asp99Gly, NP_001339247.1:p.Asp99Gly, NP_001339252.1:p.Asp169Gly, NP_001339251.1:p.Asp169Gly, NP_001164274.1:p.Asp169Gly, NP_001339254.1:p.Asp169Gly, NP_001339255.1:p.Asp169Gly, NP_001339253.1:p.Asp99Gly, NP_001339233.1:p.Asp99Gly, NP_001164275.1:p.Asp169Gly, XP_047284168.1:p.Asp99Gly, XP_047284169.1:p.Asp99Gly, XP_047284166.1:p.Asp99Gly, XP_047284172.1:p.Asp99Gly, XP_047284158.1:p.Asp183Gly, XP_047284159.1:p.Asp177Gly, XP_047284171.1:p.Asp99Gly, XP_047284174.1:p.Asp99Gly, XP_047284167.1:p.Asp99Gly, XP_047284175.1:p.Asp99Gly, XP_047284180.1:p.Asp99Gly, XP_047284181.1:p.Asp99Gly, XP_047284173.1:p.Asp99Gly, XP_047284170.1:p.Asp99Gly, XP_047284161.1:p.Asp183Gly, XP_047284160.1:p.Asp183Gly, XP_047284163.1:p.Asp177Gly, XP_047284162.1:p.Asp177Gly, XP_047284164.1:p.Asp175Gly, XP_047284165.1:p.Asp174Gly, XP_047284176.1:p.Asp168Gly, XP_047284182.1:p.Asp99Gly, XP_047284178.1:p.Asp183Gly, XP_047284179.1:p.Asp177Gly, XP_047284183.1:p.Asp168Gly, XP_047284184.1:p.Asp183Gly, XP_047284185.1:p.Asp177Gly, XP_047284186.1:p.Asp168Gly, XP_047284189.1:p.Asp177Gly, XP_047284187.1:p.Asp177Gly

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