U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 330

1.

rs1486114581 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:143586840 (GRCh38)
    8:144669010 (GRCh37)
    Canonical SPDI:
    NC_000008.11:143586839:A:G
    Gene:
    EEF1D (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000008.11:g.143586840A>G, NC_000008.10:g.144669010A>G, NT_187571.1:g.76880A>G, NM_032378.7:c.1104T>C, NM_032378.6:c.1104T>C, NM_032378.5:c.1104T>C, NM_032378.4:c.1104T>C, NM_001960.7:c.6T>C, NM_001960.6:c.6T>C, NM_001960.5:c.6T>C, NM_001960.4:c.6T>C, XM_006716519.5:c.1224T>C, XM_006716519.4:c.1101T>C, XM_006716519.3:c.1224T>C, XM_006716519.2:c.1224T>C, XM_006716519.1:c.1224T>C, XM_006716520.5:c.1227T>C, XM_006716520.4:c.1104T>C, XM_006716520.3:c.1227T>C, XM_006716520.2:c.1227T>C, XM_006716520.1:c.1227T>C, NM_001130053.5:c.1104T>C, NM_001130053.4:c.1104T>C, NM_001130053.3:c.1104T>C, NM_001130053.2:c.1104T>C, NM_001130056.5:c.6T>C, NM_001130056.4:c.6T>C, NM_001130056.3:c.6T>C, NM_001130056.2:c.6T>C, NM_001130057.4:c.6T>C, NM_001130057.3:c.6T>C, NM_001130057.2:c.6T>C, NM_001130055.4:c.6T>C, NM_001130055.3:c.6T>C, NM_001130055.2:c.6T>C, NM_001289950.4:c.6T>C, NM_001289950.3:c.6T>C, NM_001289950.2:c.6T>C, NM_001289950.1:c.6T>C, NM_001195203.4:c.6T>C, NM_001195203.3:c.6T>C, NM_001195203.2:c.6T>C, NM_001195203.1:c.6T>C, NM_001317743.4:c.6T>C, NM_001317743.3:c.6T>C, NM_001317743.2:c.6T>C, NM_001317743.1:c.6T>C, NM_001330646.3:c.6T>C, NM_001330646.2:c.6T>C, NM_001330646.1:c.6T>C, XM_006716522.2:c.1104T>C, XM_006716522.1:c.1104T>C, XM_024447088.2:c.1101T>C, XM_024447088.1:c.1101T>C, XM_006716525.2:c.6T>C, XM_006716525.1:c.6T>C, XM_047421443.1:c.1101T>C, XM_047421454.1:c.1101T>C, XM_047421428.1:c.1104T>C, XM_047421448.1:c.1104T>C, XM_047421427.1:c.1104T>C, XM_047421431.1:c.1104T>C, XM_047421449.1:c.1104T>C, XM_047421439.1:c.1104T>C, XM_047421440.1:c.1104T>C, XM_047421425.1:c.1107T>C, XM_047421453.1:c.1104T>C, XM_047421446.1:c.1107T>C, XM_047421432.1:c.1104T>C, XM_047421442.1:c.1104T>C, XM_047421451.1:c.1104T>C, XM_047421441.1:c.1104T>C, XM_005250823.1:c.1104T>C, XM_017013171.1:c.1101T>C, NM_001130054.1:c.1101T>C, XM_047421421.1:c.1227T>C, XM_047421423.1:c.1227T>C, XM_047421452.1:c.1104T>C, XM_047421434.1:c.1104T>C, XM_047421433.1:c.1104T>C, XM_047421435.1:c.1104T>C, XM_047421447.1:c.1104T>C, XM_047421424.1:c.1224T>C, XM_047421420.1:c.1227T>C, XM_047421444.1:c.1101T>C, XM_047421437.1:c.1104T>C, XM_047421422.1:c.1227T>C, XM_006716524.2:c.1104T>C, XM_006716524.1:c.1104T>C, XM_047421429.1:c.1104T>C, XM_047421436.1:c.1104T>C, XM_047421438.1:c.1104T>C, XM_047421445.1:c.1101T>C, XM_047421455.1:c.1101T>C, XM_047421450.1:c.1104T>C, XM_047421426.1:c.1104T>C, XM_047421430.1:c.1104T>C

    2.

    rs1484548770 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:143581309 (GRCh38)
      8:144663479 (GRCh37)
      Canonical SPDI:
      NC_000008.11:143581308:G:A
      Gene:
      EEF1D (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.143581309G>A, NC_000008.10:g.144663479G>A, NT_187571.1:g.71349G>A, NM_032378.7:c.1307C>T, NM_032378.6:c.1307C>T, NM_032378.5:c.1307C>T, NM_032378.4:c.1307C>T, NM_001960.7:c.209C>T, NM_001960.6:c.209C>T, NM_001960.5:c.209C>T, NM_001960.4:c.209C>T, XM_006716519.5:c.1427C>T, XM_006716519.4:c.1304C>T, XM_006716519.3:c.1427C>T, XM_006716519.2:c.1427C>T, XM_006716519.1:c.1427C>T, XM_006716520.5:c.1358C>T, XM_006716520.4:c.1235C>T, XM_006716520.3:c.1358C>T, XM_006716520.2:c.1358C>T, XM_006716520.1:c.1358C>T, NM_001130053.5:c.1307C>T, NM_001130053.4:c.1307C>T, NM_001130053.3:c.1307C>T, NM_001130053.2:c.1307C>T, NM_001130056.5:c.137C>T, NM_001130056.4:c.137C>T, NM_001130056.3:c.137C>T, NM_001130056.2:c.137C>T, NM_001130057.4:c.209C>T, NM_001130057.3:c.209C>T, NM_001130057.2:c.209C>T, NM_001130055.4:c.209C>T, NM_001130055.3:c.209C>T, NM_001130055.2:c.209C>T, NM_001289950.4:c.209C>T, NM_001289950.3:c.209C>T, NM_001289950.2:c.209C>T, NM_001289950.1:c.209C>T, NM_001195203.4:c.209C>T, NM_001195203.3:c.209C>T, NM_001195203.2:c.209C>T, NM_001195203.1:c.209C>T, NM_001317743.4:c.137C>T, NM_001317743.3:c.137C>T, NM_001317743.2:c.137C>T, NM_001317743.1:c.137C>T, NM_001330646.3:c.137C>T, NM_001330646.2:c.137C>T, NM_001330646.1:c.137C>T, XM_006716522.2:c.1307C>T, XM_006716522.1:c.1307C>T, XM_024447088.2:c.1304C>T, XM_024447088.1:c.1304C>T, XM_006716525.2:c.209C>T, XM_006716525.1:c.209C>T, XM_047421443.1:c.1304C>T, XM_047421454.1:c.1232C>T, XM_047421428.1:c.1307C>T, XM_047421448.1:c.1235C>T, XM_047421427.1:c.1307C>T, XM_047421431.1:c.1307C>T, XM_047421449.1:c.1235C>T, XM_047421439.1:c.1307C>T, XM_047421440.1:c.1307C>T, XM_047421425.1:c.1310C>T, XM_047421453.1:c.1235C>T, XM_047421446.1:c.1238C>T, XM_047421432.1:c.1307C>T, XM_047421442.1:c.1307C>T, XM_047421451.1:c.1235C>T, XM_047421441.1:c.1307C>T, XM_005250823.1:c.1307C>T, XM_017013171.1:c.1304C>T, NM_001130054.1:c.1304C>T, XM_047421421.1:c.1430C>T, XM_047421423.1:c.1430C>T, XM_047421452.1:c.1235C>T, XM_047421434.1:c.1307C>T, XM_047421433.1:c.1307C>T, XM_047421435.1:c.1307C>T, XM_047421447.1:c.1235C>T, XM_047421424.1:c.1355C>T, XM_047421420.1:c.1430C>T, XM_047421444.1:c.1304C>T, XM_047421437.1:c.1307C>T, XM_047421422.1:c.1430C>T, XM_006716524.2:c.1307C>T, XM_006716524.1:c.1307C>T, XM_047421429.1:c.1307C>T, XM_047421436.1:c.1307C>T, XM_047421438.1:c.1307C>T, XM_047421445.1:c.1304C>T, XM_047421455.1:c.1232C>T, XM_047421450.1:c.1235C>T, XM_047421426.1:c.1307C>T, XM_047421430.1:c.1307C>T, NP_115754.4:p.Ser436Phe, NP_001951.2:p.Ser70Phe, XP_006716582.3:p.Ser476Phe, XP_006716583.3:p.Ser453Phe, NP_001123525.3:p.Ser436Phe, NP_001123528.1:p.Ser46Phe, NP_001123529.1:p.Ser70Phe, NP_001123527.1:p.Ser70Phe, NP_001276879.1:p.Ser70Phe, NP_001182132.1:p.Ser70Phe, NP_001304672.1:p.Ser46Phe, NP_001317575.1:p.Ser46Phe, XP_006716585.1:p.Ser436Phe, XP_024302856.1:p.Ser435Phe, XP_006716588.1:p.Ser70Phe, XP_047277399.1:p.Ser435Phe, XP_047277410.1:p.Ser411Phe, XP_047277384.1:p.Ser436Phe, XP_047277404.1:p.Ser412Phe, XP_047277383.1:p.Ser436Phe, XP_047277387.1:p.Ser436Phe, XP_047277405.1:p.Ser412Phe, XP_047277395.1:p.Ser436Phe, XP_047277396.1:p.Ser436Phe, XP_047277381.1:p.Ser437Phe, XP_047277409.1:p.Ser412Phe, XP_047277402.1:p.Ser413Phe, XP_047277388.1:p.Ser436Phe, XP_047277398.1:p.Ser436Phe, XP_047277407.1:p.Ser412Phe, XP_047277397.1:p.Ser436Phe, XP_005250880.1:p.Ser436Phe, XP_016868660.1:p.Ser435Phe, XP_047277377.1:p.Ser477Phe, XP_047277379.1:p.Ser477Phe, XP_047277408.1:p.Ser412Phe, XP_047277390.1:p.Ser436Phe, XP_047277389.1:p.Ser436Phe, XP_047277391.1:p.Ser436Phe, XP_047277403.1:p.Ser412Phe, XP_047277380.1:p.Ser452Phe, XP_047277376.1:p.Ser477Phe, XP_047277400.1:p.Ser435Phe, XP_047277393.1:p.Ser436Phe, XP_047277378.1:p.Ser477Phe, XP_006716587.1:p.Ser436Phe, XP_047277385.1:p.Ser436Phe, XP_047277392.1:p.Ser436Phe, XP_047277394.1:p.Ser436Phe, XP_047277401.1:p.Ser435Phe, XP_047277411.1:p.Ser411Phe, XP_047277406.1:p.Ser412Phe, XP_047277382.1:p.Ser436Phe, XP_047277386.1:p.Ser436Phe

      3.

      rs1482589034 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:143580619 (GRCh38)
        8:144662789 (GRCh37)
        Canonical SPDI:
        NC_000008.11:143580618:C:T
        Gene:
        EEF1D (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.143580619C>T, NC_000008.10:g.144662789C>T, NT_187571.1:g.70659C>T, NM_032378.7:c.1597G>A, NM_032378.6:c.1597G>A, NM_032378.5:c.1597G>A, NM_032378.4:c.1597G>A, NM_001960.7:c.499G>A, NM_001960.6:c.499G>A, NM_001960.5:c.499G>A, NM_001960.4:c.499G>A, XM_006716519.5:c.1717G>A, XM_006716519.4:c.1594G>A, XM_006716519.3:c.1717G>A, XM_006716519.2:c.1717G>A, XM_006716519.1:c.1717G>A, XM_006716520.5:c.1648G>A, XM_006716520.4:c.1525G>A, XM_006716520.3:c.1648G>A, XM_006716520.2:c.1648G>A, XM_006716520.1:c.1648G>A, NM_001130053.5:c.1597G>A, NM_001130053.4:c.1597G>A, NM_001130053.3:c.1597G>A, NM_001130053.2:c.1597G>A, NM_001130056.5:c.427G>A, NM_001130056.4:c.427G>A, NM_001130056.3:c.427G>A, NM_001130056.2:c.427G>A, NM_001130055.4:c.499G>A, NM_001130055.3:c.499G>A, NM_001130055.2:c.499G>A, NM_001289950.4:c.499G>A, NM_001289950.3:c.499G>A, NM_001289950.2:c.499G>A, NM_001289950.1:c.499G>A, NM_001195203.4:c.442G>A, NM_001195203.3:c.442G>A, NM_001195203.2:c.442G>A, NM_001195203.1:c.442G>A, NM_001317743.4:c.427G>A, NM_001317743.3:c.427G>A, NM_001317743.2:c.427G>A, NM_001317743.1:c.427G>A, NM_001130057.4:c.499G>A, NM_001130057.3:c.499G>A, NM_001130057.2:c.499G>A, XM_047421437.1:c.1597G>A, XM_047421433.1:c.1597G>A, XM_047421431.1:c.1597G>A, XM_047421436.1:c.1597G>A, XM_047421455.1:c.1522G>A, NM_001330646.3:c.427G>A, NM_001330646.2:c.427G>A, NM_001330646.1:c.427G>A, XM_006716524.2:c.1597G>A, XM_006716524.1:c.1597G>A, XM_024447088.2:c.1594G>A, XM_024447088.1:c.1594G>A, XM_006716522.2:c.1597G>A, XM_006716522.1:c.1597G>A, XM_006716525.2:c.499G>A, XM_006716525.1:c.499G>A, XM_047421426.1:c.1597G>A, XM_047421454.1:c.1522G>A, XM_047421420.1:c.1720G>A, XM_047421424.1:c.1645G>A, XM_047421428.1:c.1597G>A, XM_047421434.1:c.1597G>A, XM_047421429.1:c.1597G>A, XM_047421444.1:c.1594G>A, XM_047421452.1:c.1525G>A, XM_047421448.1:c.1525G>A, XM_047421427.1:c.1597G>A, XM_047421438.1:c.1597G>A, XM_047421449.1:c.1525G>A, XM_047421439.1:c.1597G>A, XM_047421440.1:c.1597G>A, XM_047421425.1:c.1600G>A, XM_047421453.1:c.1525G>A, XM_047421446.1:c.1528G>A, XM_047421430.1:c.1597G>A, XM_047421432.1:c.1597G>A, XM_047421421.1:c.1720G>A, XM_047421423.1:c.1720G>A, XM_047421442.1:c.1597G>A, XM_047421445.1:c.1594G>A, XM_047421451.1:c.1525G>A, NM_001130054.1:c.1594G>A, XM_047421441.1:c.1597G>A, XM_005250823.1:c.1597G>A, XM_017013171.1:c.1594G>A, XM_047421450.1:c.1525G>A, XM_047421443.1:c.1594G>A, XM_047421447.1:c.1525G>A, XM_047421422.1:c.1720G>A, XM_047421435.1:c.1597G>A, NP_115754.4:p.Glu533Lys, NP_001951.2:p.Glu167Lys, XP_006716582.3:p.Glu573Lys, XP_006716583.3:p.Glu550Lys, NP_001123525.3:p.Glu533Lys, NP_001123528.1:p.Glu143Lys, NP_001123527.1:p.Glu167Lys, NP_001276879.1:p.Glu167Lys, NP_001182132.1:p.Glu148Lys, NP_001304672.1:p.Glu143Lys, NP_001123529.1:p.Glu167Lys, XP_047277393.1:p.Glu533Lys, XP_047277389.1:p.Glu533Lys, XP_047277387.1:p.Glu533Lys, XP_047277392.1:p.Glu533Lys, XP_047277411.1:p.Glu508Lys, NP_001317575.1:p.Glu143Lys, XP_006716587.1:p.Glu533Lys, XP_024302856.1:p.Glu532Lys, XP_006716585.1:p.Glu533Lys, XP_006716588.1:p.Glu167Lys, XP_047277382.1:p.Glu533Lys, XP_047277410.1:p.Glu508Lys, XP_047277376.1:p.Glu574Lys, XP_047277380.1:p.Glu549Lys, XP_047277384.1:p.Glu533Lys, XP_047277390.1:p.Glu533Lys, XP_047277385.1:p.Glu533Lys, XP_047277400.1:p.Glu532Lys, XP_047277408.1:p.Glu509Lys, XP_047277404.1:p.Glu509Lys, XP_047277383.1:p.Glu533Lys, XP_047277394.1:p.Glu533Lys, XP_047277405.1:p.Glu509Lys, XP_047277395.1:p.Glu533Lys, XP_047277396.1:p.Glu533Lys, XP_047277381.1:p.Glu534Lys, XP_047277409.1:p.Glu509Lys, XP_047277402.1:p.Glu510Lys, XP_047277386.1:p.Glu533Lys, XP_047277388.1:p.Glu533Lys, XP_047277377.1:p.Glu574Lys, XP_047277379.1:p.Glu574Lys, XP_047277398.1:p.Glu533Lys, XP_047277401.1:p.Glu532Lys, XP_047277407.1:p.Glu509Lys, XP_047277397.1:p.Glu533Lys, XP_005250880.1:p.Glu533Lys, XP_016868660.1:p.Glu532Lys, XP_047277406.1:p.Glu509Lys, XP_047277399.1:p.Glu532Lys, XP_047277403.1:p.Glu509Lys, XP_047277378.1:p.Glu574Lys, XP_047277391.1:p.Glu533Lys

        4.

        rs1482447236 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:143579827 (GRCh38)
          8:144661997 (GRCh37)
          Canonical SPDI:
          NC_000008.11:143579826:G:A
          Gene:
          EEF1D (Varview), NAPRT (Varview)
          Functional Consequence:
          stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000008.11:g.143579827G>A, NC_000008.10:g.144661997G>A, NT_187571.1:g.69867G>A, NM_032378.7:c.1909C>T, NM_032378.6:c.1909C>T, NM_032378.5:c.1909C>T, NM_032378.4:c.1909C>T, NM_001960.7:c.811C>T, NM_001960.6:c.811C>T, NM_001960.5:c.811C>T, NM_001960.4:c.811C>T, XM_006716519.5:c.2029C>T, XM_006716519.4:c.1906C>T, XM_006716519.3:c.2029C>T, XM_006716519.2:c.2029C>T, XM_006716519.1:c.2029C>T, XM_006716520.5:c.1960C>T, XM_006716520.4:c.1837C>T, XM_006716520.3:c.1960C>T, XM_006716520.2:c.1960C>T, XM_006716520.1:c.1960C>T, NM_001130053.5:c.1909C>T, NM_001130053.4:c.1909C>T, NM_001130053.3:c.1909C>T, NM_001130053.2:c.1909C>T, NM_001130056.5:c.739C>T, NM_001130056.4:c.739C>T, NM_001130056.3:c.739C>T, NM_001130056.2:c.739C>T, NM_001130055.4:c.811C>T, NM_001130055.3:c.811C>T, NM_001130055.2:c.811C>T, NM_001289950.4:c.811C>T, NM_001289950.3:c.811C>T, NM_001289950.2:c.811C>T, NM_001289950.1:c.811C>T, NM_001195203.4:c.754C>T, NM_001195203.3:c.754C>T, NM_001195203.2:c.754C>T, NM_001195203.1:c.754C>T, NM_001317743.4:c.739C>T, NM_001317743.3:c.739C>T, NM_001317743.2:c.739C>T, NM_001317743.1:c.739C>T, NM_001130057.4:c.811C>T, NM_001130057.3:c.811C>T, NM_001130057.2:c.811C>T, XM_047421437.1:c.1909C>T, NM_001330646.3:c.739C>T, NM_001330646.2:c.739C>T, NM_001330646.1:c.739C>T, XM_006716522.2:c.1909C>T, XM_006716522.1:c.1909C>T, XM_024447088.2:c.1906C>T, XM_024447088.1:c.1906C>T, XM_006716525.2:c.811C>T, XM_006716525.1:c.811C>T, XM_006716524.2:c.1909C>T, XM_006716524.1:c.1909C>T, XM_047421426.1:c.1909C>T, XM_047421443.1:c.1906C>T, XM_047421447.1:c.1837C>T, XM_047421454.1:c.1834C>T, XM_047421420.1:c.2032C>T, XM_047421424.1:c.1957C>T, XM_047421428.1:c.1909C>T, XM_047421434.1:c.1909C>T, XM_047421429.1:c.1909C>T, XM_047421444.1:c.1906C>T, XM_047421452.1:c.1837C>T, XM_047421448.1:c.1837C>T, XM_047421427.1:c.1909C>T, XM_047421436.1:c.1909C>T, XM_047421438.1:c.1909C>T, XM_047421431.1:c.1909C>T, XM_047421449.1:c.1837C>T, XM_047421439.1:c.1909C>T, XM_047421440.1:c.1909C>T, XM_047421425.1:c.1912C>T, XM_047421453.1:c.1837C>T, XM_047421446.1:c.1840C>T, XM_047421430.1:c.1909C>T, XM_047421432.1:c.1909C>T, XM_047421421.1:c.2032C>T, XM_047421423.1:c.2032C>T, XM_047421445.1:c.1906C>T, XM_047421451.1:c.1837C>T, NM_001130054.1:c.1906C>T, XM_047421441.1:c.1909C>T, XM_005250823.1:c.1909C>T, XM_017013171.1:c.1906C>T, XM_047421455.1:c.1834C>T, XM_047421442.1:c.1909C>T, XM_047421450.1:c.1837C>T, XM_047421433.1:c.1909C>T, XM_047421422.1:c.2032C>T, XM_047421435.1:c.1909C>T, NP_115754.4:p.Gln637Ter, NP_001951.2:p.Gln271Ter, XP_006716582.3:p.Gln677Ter, XP_006716583.3:p.Gln654Ter, NP_001123525.3:p.Gln637Ter, NP_001123528.1:p.Gln247Ter, NP_001123527.1:p.Gln271Ter, NP_001276879.1:p.Gln271Ter, NP_001182132.1:p.Gln252Ter, NP_001304672.1:p.Gln247Ter, NP_001123529.1:p.Gln271Ter, XP_047277393.1:p.Gln637Ter, NP_001317575.1:p.Gln247Ter, XP_006716585.1:p.Gln637Ter, XP_024302856.1:p.Gln636Ter, XP_006716588.1:p.Gln271Ter, XP_006716587.1:p.Gln637Ter, XP_047277382.1:p.Gln637Ter, XP_047277399.1:p.Gln636Ter, XP_047277403.1:p.Gln613Ter, XP_047277410.1:p.Gln612Ter, XP_047277376.1:p.Gln678Ter, XP_047277380.1:p.Gln653Ter, XP_047277384.1:p.Gln637Ter, XP_047277390.1:p.Gln637Ter, XP_047277385.1:p.Gln637Ter, XP_047277400.1:p.Gln636Ter, XP_047277408.1:p.Gln613Ter, XP_047277404.1:p.Gln613Ter, XP_047277383.1:p.Gln637Ter, XP_047277392.1:p.Gln637Ter, XP_047277394.1:p.Gln637Ter, XP_047277387.1:p.Gln637Ter, XP_047277405.1:p.Gln613Ter, XP_047277395.1:p.Gln637Ter, XP_047277396.1:p.Gln637Ter, XP_047277381.1:p.Gln638Ter, XP_047277409.1:p.Gln613Ter, XP_047277402.1:p.Gln614Ter, XP_047277386.1:p.Gln637Ter, XP_047277388.1:p.Gln637Ter, XP_047277377.1:p.Gln678Ter, XP_047277379.1:p.Gln678Ter, XP_047277401.1:p.Gln636Ter, XP_047277407.1:p.Gln613Ter, XP_047277397.1:p.Gln637Ter, XP_005250880.1:p.Gln637Ter, XP_016868660.1:p.Gln636Ter, XP_047277411.1:p.Gln612Ter, XP_047277398.1:p.Gln637Ter, XP_047277406.1:p.Gln613Ter, XP_047277389.1:p.Gln637Ter, XP_047277378.1:p.Gln678Ter, XP_047277391.1:p.Gln637Ter

          5.

          rs1458588591 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:143580674 (GRCh38)
            8:144662844 (GRCh37)
            Canonical SPDI:
            NC_000008.11:143580673:T:C
            Gene:
            EEF1D (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000008.11:g.143580674T>C, NC_000008.10:g.144662844T>C, NT_187571.1:g.70714T>C, NM_032378.7:c.1542A>G, NM_032378.6:c.1542A>G, NM_032378.5:c.1542A>G, NM_032378.4:c.1542A>G, NM_001960.7:c.444A>G, NM_001960.6:c.444A>G, NM_001960.5:c.444A>G, NM_001960.4:c.444A>G, XM_006716519.5:c.1662A>G, XM_006716519.4:c.1539A>G, XM_006716519.3:c.1662A>G, XM_006716519.2:c.1662A>G, XM_006716519.1:c.1662A>G, XM_006716520.5:c.1593A>G, XM_006716520.4:c.1470A>G, XM_006716520.3:c.1593A>G, XM_006716520.2:c.1593A>G, XM_006716520.1:c.1593A>G, NM_001130053.5:c.1542A>G, NM_001130053.4:c.1542A>G, NM_001130053.3:c.1542A>G, NM_001130053.2:c.1542A>G, NM_001130056.5:c.372A>G, NM_001130056.4:c.372A>G, NM_001130056.3:c.372A>G, NM_001130056.2:c.372A>G, NM_001130055.4:c.444A>G, NM_001130055.3:c.444A>G, NM_001130055.2:c.444A>G, NM_001289950.4:c.444A>G, NM_001289950.3:c.444A>G, NM_001289950.2:c.444A>G, NM_001289950.1:c.444A>G, NM_001195203.4:c.387A>G, NM_001195203.3:c.387A>G, NM_001195203.2:c.387A>G, NM_001195203.1:c.387A>G, NM_001317743.4:c.372A>G, NM_001317743.3:c.372A>G, NM_001317743.2:c.372A>G, NM_001317743.1:c.372A>G, NM_001130057.4:c.444A>G, NM_001130057.3:c.444A>G, NM_001130057.2:c.444A>G, XM_047421437.1:c.1542A>G, NM_001330646.3:c.372A>G, NM_001330646.2:c.372A>G, NM_001330646.1:c.372A>G, XM_006716522.2:c.1542A>G, XM_006716522.1:c.1542A>G, XM_024447088.2:c.1539A>G, XM_024447088.1:c.1539A>G, XM_006716525.2:c.444A>G, XM_006716525.1:c.444A>G, XM_006716524.2:c.1542A>G, XM_006716524.1:c.1542A>G, XM_047421426.1:c.1542A>G, XM_047421443.1:c.1539A>G, XM_047421447.1:c.1470A>G, XM_047421454.1:c.1467A>G, XM_047421420.1:c.1665A>G, XM_047421424.1:c.1590A>G, XM_047421428.1:c.1542A>G, XM_047421434.1:c.1542A>G, XM_047421429.1:c.1542A>G, XM_047421444.1:c.1539A>G, XM_047421452.1:c.1470A>G, XM_047421448.1:c.1470A>G, XM_047421427.1:c.1542A>G, XM_047421436.1:c.1542A>G, XM_047421438.1:c.1542A>G, XM_047421431.1:c.1542A>G, XM_047421449.1:c.1470A>G, XM_047421439.1:c.1542A>G, XM_047421440.1:c.1542A>G, XM_047421425.1:c.1545A>G, XM_047421453.1:c.1470A>G, XM_047421446.1:c.1473A>G, XM_047421430.1:c.1542A>G, XM_047421432.1:c.1542A>G, XM_047421421.1:c.1665A>G, XM_047421423.1:c.1665A>G, XM_047421445.1:c.1539A>G, XM_047421451.1:c.1470A>G, XM_047421441.1:c.1542A>G, XM_005250823.1:c.1542A>G, XM_017013171.1:c.1539A>G, XM_047421455.1:c.1467A>G, XM_047421442.1:c.1542A>G, XM_047421433.1:c.1542A>G, XM_047421422.1:c.1665A>G, XM_047421435.1:c.1542A>G, NM_001130054.1:c.1539A>G, XM_047421450.1:c.1470A>G

            6.

            rs1456130092 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:143586749 (GRCh38)
              8:144668919 (GRCh37)
              Canonical SPDI:
              NC_000008.11:143586748:C:T
              Gene:
              EEF1D (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000008.11:g.143586749C>T, NC_000008.10:g.144668919C>T, NT_187571.1:g.76789C>T, NM_032378.7:c.1195G>A, NM_032378.6:c.1195G>A, NM_032378.5:c.1195G>A, NM_032378.4:c.1195G>A, NM_001960.7:c.97G>A, NM_001960.6:c.97G>A, NM_001960.5:c.97G>A, NM_001960.4:c.97G>A, XM_006716519.5:c.1315G>A, XM_006716519.4:c.1192G>A, XM_006716519.3:c.1315G>A, XM_006716519.2:c.1315G>A, XM_006716519.1:c.1315G>A, XM_006716520.5:c.1318G>A, XM_006716520.4:c.1195G>A, XM_006716520.3:c.1318G>A, XM_006716520.2:c.1318G>A, XM_006716520.1:c.1318G>A, NM_001130053.5:c.1195G>A, NM_001130053.4:c.1195G>A, NM_001130053.3:c.1195G>A, NM_001130053.2:c.1195G>A, NM_001130056.5:c.97G>A, NM_001130056.4:c.97G>A, NM_001130056.3:c.97G>A, NM_001130056.2:c.97G>A, NM_001130057.4:c.97G>A, NM_001130057.3:c.97G>A, NM_001130057.2:c.97G>A, NM_001130055.4:c.97G>A, NM_001130055.3:c.97G>A, NM_001130055.2:c.97G>A, NM_001289950.4:c.97G>A, NM_001289950.3:c.97G>A, NM_001289950.2:c.97G>A, NM_001289950.1:c.97G>A, NM_001195203.4:c.97G>A, NM_001195203.3:c.97G>A, NM_001195203.2:c.97G>A, NM_001195203.1:c.97G>A, NM_001317743.4:c.97G>A, NM_001317743.3:c.97G>A, NM_001317743.2:c.97G>A, NM_001317743.1:c.97G>A, NM_001330646.3:c.97G>A, NM_001330646.2:c.97G>A, NM_001330646.1:c.97G>A, XM_006716522.2:c.1195G>A, XM_006716522.1:c.1195G>A, XM_024447088.2:c.1192G>A, XM_024447088.1:c.1192G>A, XM_006716525.2:c.97G>A, XM_006716525.1:c.97G>A, XM_047421443.1:c.1192G>A, XM_047421454.1:c.1192G>A, XM_047421428.1:c.1195G>A, XM_047421448.1:c.1195G>A, XM_047421427.1:c.1195G>A, XM_047421431.1:c.1195G>A, XM_047421449.1:c.1195G>A, XM_047421439.1:c.1195G>A, XM_047421440.1:c.1195G>A, XM_047421425.1:c.1198G>A, XM_047421453.1:c.1195G>A, XM_047421446.1:c.1198G>A, XM_047421432.1:c.1195G>A, XM_047421442.1:c.1195G>A, XM_047421451.1:c.1195G>A, XM_047421441.1:c.1195G>A, XM_005250823.1:c.1195G>A, XM_017013171.1:c.1192G>A, NM_001130054.1:c.1192G>A, XM_047421421.1:c.1318G>A, XM_047421423.1:c.1318G>A, XM_047421452.1:c.1195G>A, XM_047421434.1:c.1195G>A, XM_047421433.1:c.1195G>A, XM_047421435.1:c.1195G>A, XM_047421447.1:c.1195G>A, XM_047421424.1:c.1315G>A, XM_047421420.1:c.1318G>A, XM_047421444.1:c.1192G>A, XM_047421437.1:c.1195G>A, XM_047421422.1:c.1318G>A, XM_006716524.2:c.1195G>A, XM_006716524.1:c.1195G>A, XM_047421429.1:c.1195G>A, XM_047421436.1:c.1195G>A, XM_047421438.1:c.1195G>A, XM_047421445.1:c.1192G>A, XM_047421455.1:c.1192G>A, XM_047421450.1:c.1195G>A, XM_047421426.1:c.1195G>A, XM_047421430.1:c.1195G>A, NP_115754.4:p.Val399Met, NP_001951.2:p.Val33Met, XP_006716582.3:p.Val439Met, XP_006716583.3:p.Val440Met, NP_001123525.3:p.Val399Met, NP_001123528.1:p.Val33Met, NP_001123529.1:p.Val33Met, NP_001123527.1:p.Val33Met, NP_001276879.1:p.Val33Met, NP_001182132.1:p.Val33Met, NP_001304672.1:p.Val33Met, NP_001317575.1:p.Val33Met, XP_006716585.1:p.Val399Met, XP_024302856.1:p.Val398Met, XP_006716588.1:p.Val33Met, XP_047277399.1:p.Val398Met, XP_047277410.1:p.Val398Met, XP_047277384.1:p.Val399Met, XP_047277404.1:p.Val399Met, XP_047277383.1:p.Val399Met, XP_047277387.1:p.Val399Met, XP_047277405.1:p.Val399Met, XP_047277395.1:p.Val399Met, XP_047277396.1:p.Val399Met, XP_047277381.1:p.Val400Met, XP_047277409.1:p.Val399Met, XP_047277402.1:p.Val400Met, XP_047277388.1:p.Val399Met, XP_047277398.1:p.Val399Met, XP_047277407.1:p.Val399Met, XP_047277397.1:p.Val399Met, XP_005250880.1:p.Val399Met, XP_016868660.1:p.Val398Met, XP_047277377.1:p.Val440Met, XP_047277379.1:p.Val440Met, XP_047277408.1:p.Val399Met, XP_047277390.1:p.Val399Met, XP_047277389.1:p.Val399Met, XP_047277391.1:p.Val399Met, XP_047277403.1:p.Val399Met, XP_047277380.1:p.Val439Met, XP_047277376.1:p.Val440Met, XP_047277400.1:p.Val398Met, XP_047277393.1:p.Val399Met, XP_047277378.1:p.Val440Met, XP_006716587.1:p.Val399Met, XP_047277385.1:p.Val399Met, XP_047277392.1:p.Val399Met, XP_047277394.1:p.Val399Met, XP_047277401.1:p.Val398Met, XP_047277411.1:p.Val398Met, XP_047277406.1:p.Val399Met, XP_047277382.1:p.Val399Met, XP_047277386.1:p.Val399Met

              7.

              rs1455263647 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:143580077 (GRCh38)
                8:144662247 (GRCh37)
                Canonical SPDI:
                NC_000008.11:143580076:C:T
                Gene:
                EEF1D (Varview), NAPRT (Varview)
                Functional Consequence:
                missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.143580077C>T, NC_000008.10:g.144662247C>T, NT_187571.1:g.70117C>T, NM_032378.7:c.1840G>A, NM_032378.6:c.1840G>A, NM_032378.5:c.1840G>A, NM_032378.4:c.1840G>A, NM_001960.7:c.742G>A, NM_001960.6:c.742G>A, NM_001960.5:c.742G>A, NM_001960.4:c.742G>A, XM_006716519.5:c.1960G>A, XM_006716519.4:c.1837G>A, XM_006716519.3:c.1960G>A, XM_006716519.2:c.1960G>A, XM_006716519.1:c.1960G>A, XM_006716520.5:c.1891G>A, XM_006716520.4:c.1768G>A, XM_006716520.3:c.1891G>A, XM_006716520.2:c.1891G>A, XM_006716520.1:c.1891G>A, NM_001130053.5:c.1840G>A, NM_001130053.4:c.1840G>A, NM_001130053.3:c.1840G>A, NM_001130053.2:c.1840G>A, NM_001130056.5:c.670G>A, NM_001130056.4:c.670G>A, NM_001130056.3:c.670G>A, NM_001130056.2:c.670G>A, NM_001130055.4:c.742G>A, NM_001130055.3:c.742G>A, NM_001130055.2:c.742G>A, NM_001289950.4:c.742G>A, NM_001289950.3:c.742G>A, NM_001289950.2:c.742G>A, NM_001289950.1:c.742G>A, NM_001195203.4:c.685G>A, NM_001195203.3:c.685G>A, NM_001195203.2:c.685G>A, NM_001195203.1:c.685G>A, NM_001317743.4:c.670G>A, NM_001317743.3:c.670G>A, NM_001317743.2:c.670G>A, NM_001317743.1:c.670G>A, NM_001130057.4:c.742G>A, NM_001130057.3:c.742G>A, NM_001130057.2:c.742G>A, XM_047421437.1:c.1840G>A, XM_006716522.2:c.1840G>A, XM_006716522.1:c.1840G>A, XM_047421431.1:c.1840G>A, XM_047421433.1:c.1840G>A, XM_047421436.1:c.1840G>A, XM_047421455.1:c.1765G>A, NM_001330646.3:c.670G>A, NM_001330646.2:c.670G>A, NM_001330646.1:c.670G>A, XM_047421430.1:c.1840G>A, XM_047421446.1:c.1771G>A, XM_047421451.1:c.1768G>A, XM_005250823.1:c.1840G>A, XM_047421439.1:c.1840G>A, XM_047421445.1:c.1837G>A, XM_047421441.1:c.1840G>A, XM_047421421.1:c.1963G>A, XM_047421432.1:c.1840G>A, XM_017013171.1:c.1837G>A, NM_001130054.1:c.1837G>A, XM_047421450.1:c.1768G>A, XM_047421452.1:c.1768G>A, XM_047421438.1:c.1840G>A, XM_024447088.2:c.1837G>A, XM_024447088.1:c.1837G>A, XM_006716525.2:c.742G>A, XM_006716525.1:c.742G>A, XM_047421426.1:c.1840G>A, XM_047421434.1:c.1840G>A, XM_047421435.1:c.1840G>A, XM_047421427.1:c.1840G>A, XM_047421449.1:c.1768G>A, XM_047421440.1:c.1840G>A, XM_047421425.1:c.1843G>A, XM_047421442.1:c.1840G>A, XM_047421448.1:c.1768G>A, XM_047421447.1:c.1768G>A, XM_047421424.1:c.1888G>A, XM_047421420.1:c.1963G>A, XM_047421428.1:c.1840G>A, XM_047421453.1:c.1768G>A, XM_047421444.1:c.1837G>A, XM_047421423.1:c.1963G>A, XM_006716524.2:c.1840G>A, XM_006716524.1:c.1840G>A, XM_047421443.1:c.1837G>A, XM_047421454.1:c.1765G>A, XM_047421429.1:c.1840G>A, XM_047421422.1:c.1963G>A, NP_115754.4:p.Val614Met, NP_001951.2:p.Val248Met, XP_006716582.3:p.Val654Met, XP_006716583.3:p.Val631Met, NP_001123525.3:p.Val614Met, NP_001123528.1:p.Val224Met, NP_001123527.1:p.Val248Met, NP_001276879.1:p.Val248Met, NP_001182132.1:p.Val229Met, NP_001304672.1:p.Val224Met, NP_001123529.1:p.Val248Met, XP_047277393.1:p.Val614Met, XP_006716585.1:p.Val614Met, XP_047277387.1:p.Val614Met, XP_047277389.1:p.Val614Met, XP_047277392.1:p.Val614Met, XP_047277411.1:p.Val589Met, NP_001317575.1:p.Val224Met, XP_047277386.1:p.Val614Met, XP_047277402.1:p.Val591Met, XP_047277407.1:p.Val590Met, XP_005250880.1:p.Val614Met, XP_047277395.1:p.Val614Met, XP_047277401.1:p.Val613Met, XP_047277397.1:p.Val614Met, XP_047277377.1:p.Val655Met, XP_047277388.1:p.Val614Met, XP_016868660.1:p.Val613Met, XP_047277406.1:p.Val590Met, XP_047277408.1:p.Val590Met, XP_047277394.1:p.Val614Met, XP_024302856.1:p.Val613Met, XP_006716588.1:p.Val248Met, XP_047277382.1:p.Val614Met, XP_047277390.1:p.Val614Met, XP_047277391.1:p.Val614Met, XP_047277383.1:p.Val614Met, XP_047277405.1:p.Val590Met, XP_047277396.1:p.Val614Met, XP_047277381.1:p.Val615Met, XP_047277398.1:p.Val614Met, XP_047277404.1:p.Val590Met, XP_047277403.1:p.Val590Met, XP_047277380.1:p.Val630Met, XP_047277376.1:p.Val655Met, XP_047277384.1:p.Val614Met, XP_047277409.1:p.Val590Met, XP_047277400.1:p.Val613Met, XP_047277379.1:p.Val655Met, XP_006716587.1:p.Val614Met, XP_047277399.1:p.Val613Met, XP_047277410.1:p.Val589Met, XP_047277385.1:p.Val614Met, XP_047277378.1:p.Val655Met

                8.

                rs1454885118 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:143586270 (GRCh38)
                  8:144668440 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:143586269:G:A
                  Gene:
                  EEF1D (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  HGVS:
                  NC_000008.11:g.143586270G>A, NC_000008.10:g.144668440G>A, NT_187571.1:g.76310G>A, NM_032378.7:c.1236C>T, NM_032378.6:c.1236C>T, NM_032378.5:c.1236C>T, NM_032378.4:c.1236C>T, NM_001960.7:c.138C>T, NM_001960.6:c.138C>T, NM_001960.5:c.138C>T, NM_001960.4:c.138C>T, XM_006716519.5:c.1356C>T, XM_006716519.4:c.1233C>T, XM_006716519.3:c.1356C>T, XM_006716519.2:c.1356C>T, XM_006716519.1:c.1356C>T, NM_001130053.5:c.1236C>T, NM_001130053.4:c.1236C>T, NM_001130053.3:c.1236C>T, NM_001130053.2:c.1236C>T, NM_001130055.4:c.138C>T, NM_001130055.3:c.138C>T, NM_001130055.2:c.138C>T, NM_001289950.4:c.138C>T, NM_001289950.3:c.138C>T, NM_001289950.2:c.138C>T, NM_001289950.1:c.138C>T, NM_001195203.4:c.138C>T, NM_001195203.3:c.138C>T, NM_001195203.2:c.138C>T, NM_001195203.1:c.138C>T, NM_001130057.4:c.138C>T, NM_001130057.3:c.138C>T, NM_001130057.2:c.138C>T, XM_047421437.1:c.1236C>T, XM_006716522.2:c.1236C>T, XM_006716522.1:c.1236C>T, XM_024447088.2:c.1233C>T, XM_024447088.1:c.1233C>T, XM_006716525.2:c.138C>T, XM_006716525.1:c.138C>T, XM_047421420.1:c.1359C>T, XM_047421428.1:c.1236C>T, XM_047421436.1:c.1236C>T, XM_047421431.1:c.1236C>T, XM_047421439.1:c.1236C>T, XM_047421432.1:c.1236C>T, XM_047421421.1:c.1359C>T, XM_047421445.1:c.1233C>T, XM_047421441.1:c.1236C>T, XM_005250823.1:c.1236C>T, NM_001130054.1:c.1233C>T, XM_047421423.1:c.1359C>T, XM_047421438.1:c.1236C>T, XM_047421425.1:c.1239C>T, XM_047421442.1:c.1236C>T, XM_006716524.2:c.1236C>T, XM_006716524.1:c.1236C>T, XM_047421426.1:c.1236C>T, XM_047421443.1:c.1233C>T, XM_047421434.1:c.1236C>T, XM_047421444.1:c.1233C>T, XM_047421427.1:c.1236C>T, XM_047421440.1:c.1236C>T, XM_047421430.1:c.1236C>T, XM_047421422.1:c.1359C>T, XM_047421433.1:c.1236C>T, XM_047421429.1:c.1236C>T, XM_047421435.1:c.1236C>T, XM_017013171.1:c.1233C>T

                  9.

                  rs1453233016 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:143581113 (GRCh38)
                    8:144663283 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:143581112:G:A
                    Gene:
                    EEF1D (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_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_000008.11:g.143581113G>A, NC_000008.10:g.144663283G>A, NT_187571.1:g.71153G>A, NM_032378.7:c.1429C>T, NM_032378.6:c.1429C>T, NM_032378.5:c.1429C>T, NM_032378.4:c.1429C>T, NM_001960.7:c.331C>T, NM_001960.6:c.331C>T, NM_001960.5:c.331C>T, NM_001960.4:c.331C>T, XM_006716519.5:c.1549C>T, XM_006716519.4:c.1426C>T, XM_006716519.3:c.1549C>T, XM_006716519.2:c.1549C>T, XM_006716519.1:c.1549C>T, XM_006716520.5:c.1480C>T, XM_006716520.4:c.1357C>T, XM_006716520.3:c.1480C>T, XM_006716520.2:c.1480C>T, XM_006716520.1:c.1480C>T, NM_001130053.5:c.1429C>T, NM_001130053.4:c.1429C>T, NM_001130053.3:c.1429C>T, NM_001130053.2:c.1429C>T, NM_001130056.5:c.259C>T, NM_001130056.4:c.259C>T, NM_001130056.3:c.259C>T, NM_001130056.2:c.259C>T, NM_001130057.4:c.331C>T, NM_001130057.3:c.331C>T, NM_001130057.2:c.331C>T, NM_001130055.4:c.331C>T, NM_001130055.3:c.331C>T, NM_001130055.2:c.331C>T, NM_001289950.4:c.331C>T, NM_001289950.3:c.331C>T, NM_001289950.2:c.331C>T, NM_001289950.1:c.331C>T, NM_001195203.4:c.274C>T, NM_001195203.3:c.274C>T, NM_001195203.2:c.274C>T, NM_001195203.1:c.274C>T, NM_001317743.4:c.259C>T, NM_001317743.3:c.259C>T, NM_001317743.2:c.259C>T, NM_001317743.1:c.259C>T, NM_001330646.3:c.259C>T, NM_001330646.2:c.259C>T, NM_001330646.1:c.259C>T, XM_006716524.2:c.1429C>T, XM_006716524.1:c.1429C>T, XM_006716522.2:c.1429C>T, XM_006716522.1:c.1429C>T, XM_024447088.2:c.1426C>T, XM_024447088.1:c.1426C>T, XM_006716525.2:c.331C>T, XM_006716525.1:c.331C>T, XM_047421447.1:c.1357C>T, XM_047421448.1:c.1357C>T, XM_047421427.1:c.1429C>T, XM_047421436.1:c.1429C>T, XM_047421437.1:c.1429C>T, XM_047421438.1:c.1429C>T, XM_047421449.1:c.1357C>T, XM_047421446.1:c.1360C>T, XM_047421432.1:c.1429C>T, XM_047421421.1:c.1552C>T, XM_047421442.1:c.1429C>T, XM_047421451.1:c.1357C>T, NM_001130054.1:c.1426C>T, XM_047421441.1:c.1429C>T, XM_017013171.1:c.1426C>T, XM_047421450.1:c.1357C>T, XM_047421423.1:c.1552C>T, XM_047421452.1:c.1357C>T, XM_005250823.1:c.1429C>T, XM_047421433.1:c.1429C>T, XM_047421425.1:c.1432C>T, XM_047421455.1:c.1354C>T, XM_047421443.1:c.1426C>T, XM_047421424.1:c.1477C>T, XM_047421445.1:c.1426C>T, XM_047421428.1:c.1429C>T, XM_047421453.1:c.1357C>T, XM_047421444.1:c.1426C>T, XM_047421435.1:c.1429C>T, XM_047421440.1:c.1429C>T, XM_047421422.1:c.1552C>T, XM_047421426.1:c.1429C>T, XM_047421454.1:c.1354C>T, XM_047421420.1:c.1552C>T, XM_047421434.1:c.1429C>T, XM_047421429.1:c.1429C>T, XM_047421431.1:c.1429C>T, XM_047421439.1:c.1429C>T, XM_047421430.1:c.1429C>T, NP_115754.4:p.Arg477Trp, NP_001951.2:p.Arg111Trp, XP_006716582.3:p.Arg517Trp, XP_006716583.3:p.Arg494Trp, NP_001123525.3:p.Arg477Trp, NP_001123528.1:p.Arg87Trp, NP_001123529.1:p.Arg111Trp, NP_001123527.1:p.Arg111Trp, NP_001276879.1:p.Arg111Trp, NP_001182132.1:p.Arg92Trp, NP_001304672.1:p.Arg87Trp, NP_001317575.1:p.Arg87Trp, XP_006716587.1:p.Arg477Trp, XP_006716585.1:p.Arg477Trp, XP_024302856.1:p.Arg476Trp, XP_006716588.1:p.Arg111Trp, XP_047277403.1:p.Arg453Trp, XP_047277404.1:p.Arg453Trp, XP_047277383.1:p.Arg477Trp, XP_047277392.1:p.Arg477Trp, XP_047277393.1:p.Arg477Trp, XP_047277394.1:p.Arg477Trp, XP_047277405.1:p.Arg453Trp, XP_047277402.1:p.Arg454Trp, XP_047277388.1:p.Arg477Trp, XP_047277377.1:p.Arg518Trp, XP_047277398.1:p.Arg477Trp, XP_047277407.1:p.Arg453Trp, XP_047277397.1:p.Arg477Trp, XP_016868660.1:p.Arg476Trp, XP_047277406.1:p.Arg453Trp, XP_047277379.1:p.Arg518Trp, XP_047277408.1:p.Arg453Trp, XP_005250880.1:p.Arg477Trp, XP_047277389.1:p.Arg477Trp, XP_047277381.1:p.Arg478Trp, XP_047277411.1:p.Arg452Trp, XP_047277399.1:p.Arg476Trp, XP_047277380.1:p.Arg493Trp, XP_047277401.1:p.Arg476Trp, XP_047277384.1:p.Arg477Trp, XP_047277409.1:p.Arg453Trp, XP_047277400.1:p.Arg476Trp, XP_047277391.1:p.Arg477Trp, XP_047277396.1:p.Arg477Trp, XP_047277378.1:p.Arg518Trp, XP_047277382.1:p.Arg477Trp, XP_047277410.1:p.Arg452Trp, XP_047277376.1:p.Arg518Trp, XP_047277390.1:p.Arg477Trp, XP_047277385.1:p.Arg477Trp, XP_047277387.1:p.Arg477Trp, XP_047277395.1:p.Arg477Trp, XP_047277386.1:p.Arg477Trp

                    10.

                    rs1452000986 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:143580678 (GRCh38)
                      8:144662848 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:143580677:G:A
                      Gene:
                      EEF1D (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000008.11:g.143580678G>A, NC_000008.10:g.144662848G>A, NT_187571.1:g.70718G>A, NM_032378.7:c.1538C>T, NM_032378.6:c.1538C>T, NM_032378.5:c.1538C>T, NM_032378.4:c.1538C>T, NM_001960.7:c.440C>T, NM_001960.6:c.440C>T, NM_001960.5:c.440C>T, NM_001960.4:c.440C>T, XM_006716519.5:c.1658C>T, XM_006716519.4:c.1535C>T, XM_006716519.3:c.1658C>T, XM_006716519.2:c.1658C>T, XM_006716519.1:c.1658C>T, XM_006716520.5:c.1589C>T, XM_006716520.4:c.1466C>T, XM_006716520.3:c.1589C>T, XM_006716520.2:c.1589C>T, XM_006716520.1:c.1589C>T, NM_001130053.5:c.1538C>T, NM_001130053.4:c.1538C>T, NM_001130053.3:c.1538C>T, NM_001130053.2:c.1538C>T, NM_001130056.5:c.368C>T, NM_001130056.4:c.368C>T, NM_001130056.3:c.368C>T, NM_001130056.2:c.368C>T, NM_001130055.4:c.440C>T, NM_001130055.3:c.440C>T, NM_001130055.2:c.440C>T, NM_001289950.4:c.440C>T, NM_001289950.3:c.440C>T, NM_001289950.2:c.440C>T, NM_001289950.1:c.440C>T, NM_001195203.4:c.383C>T, NM_001195203.3:c.383C>T, NM_001195203.2:c.383C>T, NM_001195203.1:c.383C>T, NM_001317743.4:c.368C>T, NM_001317743.3:c.368C>T, NM_001317743.2:c.368C>T, NM_001317743.1:c.368C>T, NM_001130057.4:c.440C>T, NM_001130057.3:c.440C>T, NM_001130057.2:c.440C>T, XM_047421437.1:c.1538C>T, XM_006716522.2:c.1538C>T, XM_006716522.1:c.1538C>T, XM_047421431.1:c.1538C>T, XM_047421433.1:c.1538C>T, XM_047421436.1:c.1538C>T, XM_047421455.1:c.1463C>T, NM_001330646.3:c.368C>T, NM_001330646.2:c.368C>T, NM_001330646.1:c.368C>T, XM_006716524.2:c.1538C>T, XM_006716524.1:c.1538C>T, XM_006716525.2:c.440C>T, XM_006716525.1:c.440C>T, XM_024447088.2:c.1535C>T, XM_024447088.1:c.1535C>T, XM_047421426.1:c.1538C>T, XM_047421454.1:c.1463C>T, XM_047421420.1:c.1661C>T, XM_047421424.1:c.1586C>T, XM_047421428.1:c.1538C>T, XM_047421434.1:c.1538C>T, XM_047421452.1:c.1466C>T, XM_047421427.1:c.1538C>T, XM_047421438.1:c.1538C>T, XM_047421449.1:c.1466C>T, XM_047421439.1:c.1538C>T, XM_047421440.1:c.1538C>T, XM_047421425.1:c.1541C>T, XM_047421453.1:c.1466C>T, XM_047421446.1:c.1469C>T, XM_047421430.1:c.1538C>T, XM_047421432.1:c.1538C>T, XM_047421421.1:c.1661C>T, XM_047421422.1:c.1661C>T, XM_047421423.1:c.1661C>T, XM_047421442.1:c.1538C>T, XM_047421445.1:c.1535C>T, XM_047421451.1:c.1466C>T, NM_001130054.1:c.1535C>T, XM_047421441.1:c.1538C>T, XM_005250823.1:c.1538C>T, XM_017013171.1:c.1535C>T, XM_047421450.1:c.1466C>T, XM_047421443.1:c.1535C>T, XM_047421448.1:c.1466C>T, XM_047421447.1:c.1466C>T, XM_047421444.1:c.1535C>T, XM_047421429.1:c.1538C>T, XM_047421435.1:c.1538C>T, NP_115754.4:p.Thr513Ile, NP_001951.2:p.Thr147Ile, XP_006716582.3:p.Thr553Ile, XP_006716583.3:p.Thr530Ile, NP_001123525.3:p.Thr513Ile, NP_001123528.1:p.Thr123Ile, NP_001123527.1:p.Thr147Ile, NP_001276879.1:p.Thr147Ile, NP_001182132.1:p.Thr128Ile, NP_001304672.1:p.Thr123Ile, NP_001123529.1:p.Thr147Ile, XP_047277393.1:p.Thr513Ile, XP_006716585.1:p.Thr513Ile, XP_047277387.1:p.Thr513Ile, XP_047277389.1:p.Thr513Ile, XP_047277392.1:p.Thr513Ile, XP_047277411.1:p.Thr488Ile, NP_001317575.1:p.Thr123Ile, XP_006716587.1:p.Thr513Ile, XP_006716588.1:p.Thr147Ile, XP_024302856.1:p.Thr512Ile, XP_047277382.1:p.Thr513Ile, XP_047277410.1:p.Thr488Ile, XP_047277376.1:p.Thr554Ile, XP_047277380.1:p.Thr529Ile, XP_047277384.1:p.Thr513Ile, XP_047277390.1:p.Thr513Ile, XP_047277408.1:p.Thr489Ile, XP_047277383.1:p.Thr513Ile, XP_047277394.1:p.Thr513Ile, XP_047277405.1:p.Thr489Ile, XP_047277395.1:p.Thr513Ile, XP_047277396.1:p.Thr513Ile, XP_047277381.1:p.Thr514Ile, XP_047277409.1:p.Thr489Ile, XP_047277402.1:p.Thr490Ile, XP_047277386.1:p.Thr513Ile, XP_047277388.1:p.Thr513Ile, XP_047277377.1:p.Thr554Ile, XP_047277378.1:p.Thr554Ile, XP_047277379.1:p.Thr554Ile, XP_047277398.1:p.Thr513Ile, XP_047277401.1:p.Thr512Ile, XP_047277407.1:p.Thr489Ile, XP_047277397.1:p.Thr513Ile, XP_005250880.1:p.Thr513Ile, XP_016868660.1:p.Thr512Ile, XP_047277406.1:p.Thr489Ile, XP_047277399.1:p.Thr512Ile, XP_047277404.1:p.Thr489Ile, XP_047277403.1:p.Thr489Ile, XP_047277400.1:p.Thr512Ile, XP_047277385.1:p.Thr513Ile, XP_047277391.1:p.Thr513Ile

                      11.

                      rs1444275491 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:143586775 (GRCh38)
                        8:144668945 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:143586774:C:T
                        Gene:
                        EEF1D (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000008.11:g.143586775C>T, NC_000008.10:g.144668945C>T, NT_187571.1:g.76815C>T, NM_032378.7:c.1169G>A, NM_032378.6:c.1169G>A, NM_032378.5:c.1169G>A, NM_032378.4:c.1169G>A, NM_001960.7:c.71G>A, NM_001960.6:c.71G>A, NM_001960.5:c.71G>A, NM_001960.4:c.71G>A, XM_006716519.5:c.1289G>A, XM_006716519.4:c.1166G>A, XM_006716519.3:c.1289G>A, XM_006716519.2:c.1289G>A, XM_006716519.1:c.1289G>A, XM_006716520.5:c.1292G>A, XM_006716520.4:c.1169G>A, XM_006716520.3:c.1292G>A, XM_006716520.2:c.1292G>A, XM_006716520.1:c.1292G>A, NM_001130053.5:c.1169G>A, NM_001130053.4:c.1169G>A, NM_001130053.3:c.1169G>A, NM_001130053.2:c.1169G>A, NM_001130056.5:c.71G>A, NM_001130056.4:c.71G>A, NM_001130056.3:c.71G>A, NM_001130056.2:c.71G>A, NM_001130055.4:c.71G>A, NM_001130055.3:c.71G>A, NM_001130055.2:c.71G>A, NM_001289950.4:c.71G>A, NM_001289950.3:c.71G>A, NM_001289950.2:c.71G>A, NM_001289950.1:c.71G>A, NM_001195203.4:c.71G>A, NM_001195203.3:c.71G>A, NM_001195203.2:c.71G>A, NM_001195203.1:c.71G>A, NM_001317743.4:c.71G>A, NM_001317743.3:c.71G>A, NM_001317743.2:c.71G>A, NM_001317743.1:c.71G>A, NM_001130057.4:c.71G>A, NM_001130057.3:c.71G>A, NM_001130057.2:c.71G>A, XM_047421437.1:c.1169G>A, XM_047421433.1:c.1169G>A, XM_047421431.1:c.1169G>A, XM_047421436.1:c.1169G>A, XM_047421455.1:c.1166G>A, NM_001330646.3:c.71G>A, NM_001330646.2:c.71G>A, NM_001330646.1:c.71G>A, XM_047421448.1:c.1169G>A, XM_047421446.1:c.1172G>A, XM_047421430.1:c.1169G>A, XM_047421451.1:c.1169G>A, XM_005250823.1:c.1169G>A, XM_047421439.1:c.1169G>A, XM_017013171.1:c.1166G>A, XM_047421445.1:c.1166G>A, XM_047421441.1:c.1169G>A, XM_047421421.1:c.1292G>A, XM_047421432.1:c.1169G>A, XM_047421453.1:c.1169G>A, NM_001130054.1:c.1166G>A, XM_047421450.1:c.1169G>A, XM_047421452.1:c.1169G>A, XM_047421438.1:c.1169G>A, XM_006716522.2:c.1169G>A, XM_006716522.1:c.1169G>A, XM_024447088.2:c.1166G>A, XM_024447088.1:c.1166G>A, XM_006716525.2:c.71G>A, XM_006716525.1:c.71G>A, XM_006716524.2:c.1169G>A, XM_006716524.1:c.1169G>A, XM_047421426.1:c.1169G>A, XM_047421434.1:c.1169G>A, XM_047421435.1:c.1169G>A, XM_047421427.1:c.1169G>A, XM_047421449.1:c.1169G>A, XM_047421442.1:c.1169G>A, XM_047421443.1:c.1166G>A, XM_047421447.1:c.1169G>A, XM_047421424.1:c.1289G>A, XM_047421425.1:c.1172G>A, XM_047421444.1:c.1166G>A, XM_047421423.1:c.1292G>A, XM_047421422.1:c.1292G>A, XM_047421428.1:c.1169G>A, XM_047421454.1:c.1166G>A, XM_047421420.1:c.1292G>A, XM_047421429.1:c.1169G>A, XM_047421440.1:c.1169G>A, NP_115754.4:p.Arg390Lys, NP_001951.2:p.Arg24Lys, XP_006716582.3:p.Arg430Lys, XP_006716583.3:p.Arg431Lys, NP_001123525.3:p.Arg390Lys, NP_001123528.1:p.Arg24Lys, NP_001123527.1:p.Arg24Lys, NP_001276879.1:p.Arg24Lys, NP_001182132.1:p.Arg24Lys, NP_001304672.1:p.Arg24Lys, NP_001123529.1:p.Arg24Lys, XP_047277393.1:p.Arg390Lys, XP_047277389.1:p.Arg390Lys, XP_047277387.1:p.Arg390Lys, XP_047277392.1:p.Arg390Lys, XP_047277411.1:p.Arg389Lys, NP_001317575.1:p.Arg24Lys, XP_047277404.1:p.Arg390Lys, XP_047277402.1:p.Arg391Lys, XP_047277386.1:p.Arg390Lys, XP_047277407.1:p.Arg390Lys, XP_005250880.1:p.Arg390Lys, XP_047277395.1:p.Arg390Lys, XP_016868660.1:p.Arg389Lys, XP_047277401.1:p.Arg389Lys, XP_047277397.1:p.Arg390Lys, XP_047277377.1:p.Arg431Lys, XP_047277388.1:p.Arg390Lys, XP_047277409.1:p.Arg390Lys, XP_047277406.1:p.Arg390Lys, XP_047277408.1:p.Arg390Lys, XP_047277394.1:p.Arg390Lys, XP_006716585.1:p.Arg390Lys, XP_024302856.1:p.Arg389Lys, XP_006716588.1:p.Arg24Lys, XP_006716587.1:p.Arg390Lys, XP_047277382.1:p.Arg390Lys, XP_047277390.1:p.Arg390Lys, XP_047277391.1:p.Arg390Lys, XP_047277383.1:p.Arg390Lys, XP_047277405.1:p.Arg390Lys, XP_047277398.1:p.Arg390Lys, XP_047277399.1:p.Arg389Lys, XP_047277403.1:p.Arg390Lys, XP_047277380.1:p.Arg430Lys, XP_047277381.1:p.Arg391Lys, XP_047277400.1:p.Arg389Lys, XP_047277379.1:p.Arg431Lys, XP_047277378.1:p.Arg431Lys, XP_047277384.1:p.Arg390Lys, XP_047277410.1:p.Arg389Lys, XP_047277376.1:p.Arg431Lys, XP_047277385.1:p.Arg390Lys, XP_047277396.1:p.Arg390Lys

                        12.

                        rs1440075454 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:143586764 (GRCh38)
                          8:144668934 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:143586763:G:A
                          Gene:
                          EEF1D (Varview)
                          Functional Consequence:
                          stop_gained,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.143586764G>A, NC_000008.10:g.144668934G>A, NT_187571.1:g.76804G>A, NM_032378.7:c.1180C>T, NM_032378.6:c.1180C>T, NM_032378.5:c.1180C>T, NM_032378.4:c.1180C>T, NM_001960.7:c.82C>T, NM_001960.6:c.82C>T, NM_001960.5:c.82C>T, NM_001960.4:c.82C>T, XM_006716519.5:c.1300C>T, XM_006716519.4:c.1177C>T, XM_006716519.3:c.1300C>T, XM_006716519.2:c.1300C>T, XM_006716519.1:c.1300C>T, XM_006716520.5:c.1303C>T, XM_006716520.4:c.1180C>T, XM_006716520.3:c.1303C>T, XM_006716520.2:c.1303C>T, XM_006716520.1:c.1303C>T, NM_001130053.5:c.1180C>T, NM_001130053.4:c.1180C>T, NM_001130053.3:c.1180C>T, NM_001130053.2:c.1180C>T, NM_001130056.5:c.82C>T, NM_001130056.4:c.82C>T, NM_001130056.3:c.82C>T, NM_001130056.2:c.82C>T, NM_001130055.4:c.82C>T, NM_001130055.3:c.82C>T, NM_001130055.2:c.82C>T, NM_001289950.4:c.82C>T, NM_001289950.3:c.82C>T, NM_001289950.2:c.82C>T, NM_001289950.1:c.82C>T, NM_001195203.4:c.82C>T, NM_001195203.3:c.82C>T, NM_001195203.2:c.82C>T, NM_001195203.1:c.82C>T, NM_001317743.4:c.82C>T, NM_001317743.3:c.82C>T, NM_001317743.2:c.82C>T, NM_001317743.1:c.82C>T, NM_001130057.4:c.82C>T, NM_001130057.3:c.82C>T, NM_001130057.2:c.82C>T, XM_047421437.1:c.1180C>T, XM_006716522.2:c.1180C>T, XM_006716522.1:c.1180C>T, XM_047421431.1:c.1180C>T, XM_047421433.1:c.1180C>T, XM_047421436.1:c.1180C>T, XM_047421455.1:c.1177C>T, NM_001330646.3:c.82C>T, NM_001330646.2:c.82C>T, NM_001330646.1:c.82C>T, XM_006716524.2:c.1180C>T, XM_006716524.1:c.1180C>T, XM_006716525.2:c.82C>T, XM_006716525.1:c.82C>T, XM_024447088.2:c.1177C>T, XM_024447088.1:c.1177C>T, XM_047421426.1:c.1180C>T, XM_047421454.1:c.1177C>T, XM_047421420.1:c.1303C>T, XM_047421424.1:c.1300C>T, XM_047421428.1:c.1180C>T, XM_047421452.1:c.1180C>T, XM_047421427.1:c.1180C>T, XM_047421438.1:c.1180C>T, XM_047421449.1:c.1180C>T, XM_047421439.1:c.1180C>T, XM_047421440.1:c.1180C>T, XM_047421425.1:c.1183C>T, XM_047421453.1:c.1180C>T, XM_047421446.1:c.1183C>T, XM_047421430.1:c.1180C>T, XM_047421432.1:c.1180C>T, XM_047421421.1:c.1303C>T, XM_047421423.1:c.1303C>T, XM_047421442.1:c.1180C>T, XM_047421445.1:c.1177C>T, NM_001130054.1:c.1177C>T, XM_047421441.1:c.1180C>T, XM_005250823.1:c.1180C>T, XM_017013171.1:c.1177C>T, XM_047421451.1:c.1180C>T, XM_047421443.1:c.1177C>T, XM_047421448.1:c.1180C>T, XM_047421447.1:c.1180C>T, XM_047421444.1:c.1177C>T, XM_047421429.1:c.1180C>T, XM_047421435.1:c.1180C>T, XM_047421450.1:c.1180C>T, XM_047421434.1:c.1180C>T, XM_047421422.1:c.1303C>T, NP_115754.4:p.Gln394Ter, NP_001951.2:p.Gln28Ter, XP_006716582.3:p.Gln434Ter, XP_006716583.3:p.Gln435Ter, NP_001123525.3:p.Gln394Ter, NP_001123528.1:p.Gln28Ter, NP_001123527.1:p.Gln28Ter, NP_001276879.1:p.Gln28Ter, NP_001182132.1:p.Gln28Ter, NP_001304672.1:p.Gln28Ter, NP_001123529.1:p.Gln28Ter, XP_047277393.1:p.Gln394Ter, XP_006716585.1:p.Gln394Ter, XP_047277387.1:p.Gln394Ter, XP_047277389.1:p.Gln394Ter, XP_047277392.1:p.Gln394Ter, XP_047277411.1:p.Gln393Ter, NP_001317575.1:p.Gln28Ter, XP_006716587.1:p.Gln394Ter, XP_006716588.1:p.Gln28Ter, XP_024302856.1:p.Gln393Ter, XP_047277382.1:p.Gln394Ter, XP_047277410.1:p.Gln393Ter, XP_047277376.1:p.Gln435Ter, XP_047277380.1:p.Gln434Ter, XP_047277384.1:p.Gln394Ter, XP_047277408.1:p.Gln394Ter, XP_047277383.1:p.Gln394Ter, XP_047277394.1:p.Gln394Ter, XP_047277405.1:p.Gln394Ter, XP_047277395.1:p.Gln394Ter, XP_047277396.1:p.Gln394Ter, XP_047277381.1:p.Gln395Ter, XP_047277409.1:p.Gln394Ter, XP_047277402.1:p.Gln395Ter, XP_047277386.1:p.Gln394Ter, XP_047277388.1:p.Gln394Ter, XP_047277377.1:p.Gln435Ter, XP_047277379.1:p.Gln435Ter, XP_047277398.1:p.Gln394Ter, XP_047277401.1:p.Gln393Ter, XP_047277397.1:p.Gln394Ter, XP_005250880.1:p.Gln394Ter, XP_016868660.1:p.Gln393Ter, XP_047277407.1:p.Gln394Ter, XP_047277399.1:p.Gln393Ter, XP_047277404.1:p.Gln394Ter, XP_047277403.1:p.Gln394Ter, XP_047277400.1:p.Gln393Ter, XP_047277385.1:p.Gln394Ter, XP_047277391.1:p.Gln394Ter, XP_047277406.1:p.Gln394Ter, XP_047277390.1:p.Gln394Ter, XP_047277378.1:p.Gln435Ter

                          13.

                          rs1438782692 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            8:143581149 (GRCh38)
                            8:144663319 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:143581148:G:A,NC_000008.11:143581148:G:C
                            Gene:
                            EEF1D (Varview)
                            Functional Consequence:
                            missense_variant,stop_gained,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000051/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000008.11:g.143581149G>A, NC_000008.11:g.143581149G>C, NC_000008.10:g.144663319G>A, NC_000008.10:g.144663319G>C, NT_187571.1:g.71189G>A, NT_187571.1:g.71189G>C, NM_032378.7:c.1393C>T, NM_032378.7:c.1393C>G, NM_032378.6:c.1393C>T, NM_032378.6:c.1393C>G, NM_032378.5:c.1393C>T, NM_032378.5:c.1393C>G, NM_032378.4:c.1393C>T, NM_032378.4:c.1393C>G, NM_001960.7:c.295C>T, NM_001960.7:c.295C>G, NM_001960.6:c.295C>T, NM_001960.6:c.295C>G, NM_001960.5:c.295C>T, NM_001960.5:c.295C>G, NM_001960.4:c.295C>T, NM_001960.4:c.295C>G, XM_006716519.5:c.1513C>T, XM_006716519.5:c.1513C>G, XM_006716519.4:c.1390C>T, XM_006716519.4:c.1390C>G, XM_006716519.3:c.1513C>T, XM_006716519.3:c.1513C>G, XM_006716519.2:c.1513C>T, XM_006716519.2:c.1513C>G, XM_006716519.1:c.1513C>T, XM_006716519.1:c.1513C>G, XM_006716520.5:c.1444C>T, XM_006716520.5:c.1444C>G, XM_006716520.4:c.1321C>T, XM_006716520.4:c.1321C>G, XM_006716520.3:c.1444C>T, XM_006716520.3:c.1444C>G, XM_006716520.2:c.1444C>T, XM_006716520.2:c.1444C>G, XM_006716520.1:c.1444C>T, XM_006716520.1:c.1444C>G, NM_001130053.5:c.1393C>T, NM_001130053.5:c.1393C>G, NM_001130053.4:c.1393C>T, NM_001130053.4:c.1393C>G, NM_001130053.3:c.1393C>T, NM_001130053.3:c.1393C>G, NM_001130053.2:c.1393C>T, NM_001130053.2:c.1393C>G, NM_001130056.5:c.223C>T, NM_001130056.5:c.223C>G, NM_001130056.4:c.223C>T, NM_001130056.4:c.223C>G, NM_001130056.3:c.223C>T, NM_001130056.3:c.223C>G, NM_001130056.2:c.223C>T, NM_001130056.2:c.223C>G, NM_001130057.4:c.295C>T, NM_001130057.4:c.295C>G, NM_001130057.3:c.295C>T, NM_001130057.3:c.295C>G, NM_001130057.2:c.295C>T, NM_001130057.2:c.295C>G, NM_001130055.4:c.295C>T, NM_001130055.4:c.295C>G, NM_001130055.3:c.295C>T, NM_001130055.3:c.295C>G, NM_001130055.2:c.295C>T, NM_001130055.2:c.295C>G, NM_001289950.4:c.295C>T, NM_001289950.4:c.295C>G, NM_001289950.3:c.295C>T, NM_001289950.3:c.295C>G, NM_001289950.2:c.295C>T, NM_001289950.2:c.295C>G, NM_001289950.1:c.295C>T, NM_001289950.1:c.295C>G, NM_001195203.4:c.238C>T, NM_001195203.4:c.238C>G, NM_001195203.3:c.238C>T, NM_001195203.3:c.238C>G, NM_001195203.2:c.238C>T, NM_001195203.2:c.238C>G, NM_001195203.1:c.238C>T, NM_001195203.1:c.238C>G, NM_001317743.4:c.223C>T, NM_001317743.4:c.223C>G, NM_001317743.3:c.223C>T, NM_001317743.3:c.223C>G, NM_001317743.2:c.223C>T, NM_001317743.2:c.223C>G, NM_001317743.1:c.223C>T, NM_001317743.1:c.223C>G, NM_001330646.3:c.223C>T, NM_001330646.3:c.223C>G, NM_001330646.2:c.223C>T, NM_001330646.2:c.223C>G, NM_001330646.1:c.223C>T, NM_001330646.1:c.223C>G, XM_006716522.2:c.1393C>T, XM_006716522.2:c.1393C>G, XM_006716522.1:c.1393C>T, XM_006716522.1:c.1393C>G, XM_006716524.2:c.1393C>T, XM_006716524.2:c.1393C>G, XM_006716524.1:c.1393C>T, XM_006716524.1:c.1393C>G, XM_024447088.2:c.1390C>T, XM_024447088.2:c.1390C>G, XM_024447088.1:c.1390C>T, XM_024447088.1:c.1390C>G, XM_006716525.2:c.295C>T, XM_006716525.2:c.295C>G, XM_006716525.1:c.295C>T, XM_006716525.1:c.295C>G, XM_047421426.1:c.1393C>T, XM_047421426.1:c.1393C>G, XM_047421443.1:c.1390C>T, XM_047421443.1:c.1390C>G, XM_047421447.1:c.1321C>T, XM_047421447.1:c.1321C>G, XM_047421454.1:c.1318C>T, XM_047421454.1:c.1318C>G, XM_047421428.1:c.1393C>T, XM_047421428.1:c.1393C>G, XM_047421448.1:c.1321C>T, XM_047421448.1:c.1321C>G, XM_047421435.1:c.1393C>T, XM_047421435.1:c.1393C>G, XM_047421427.1:c.1393C>T, XM_047421427.1:c.1393C>G, XM_047421436.1:c.1393C>T, XM_047421436.1:c.1393C>G, XM_047421437.1:c.1393C>T, XM_047421437.1:c.1393C>G, XM_047421438.1:c.1393C>T, XM_047421438.1:c.1393C>G, XM_047421431.1:c.1393C>T, XM_047421431.1:c.1393C>G, XM_047421449.1:c.1321C>T, XM_047421449.1:c.1321C>G, XM_047421439.1:c.1393C>T, XM_047421439.1:c.1393C>G, XM_047421425.1:c.1396C>T, XM_047421425.1:c.1396C>G, XM_047421453.1:c.1321C>T, XM_047421453.1:c.1321C>G, XM_047421446.1:c.1324C>T, XM_047421446.1:c.1324C>G, XM_047421430.1:c.1393C>T, XM_047421430.1:c.1393C>G, XM_047421432.1:c.1393C>T, XM_047421432.1:c.1393C>G, XM_047421442.1:c.1393C>T, XM_047421442.1:c.1393C>G, XM_047421445.1:c.1390C>T, XM_047421445.1:c.1390C>G, XM_047421441.1:c.1393C>T, XM_047421441.1:c.1393C>G, XM_005250823.1:c.1393C>T, XM_005250823.1:c.1393C>G, XM_017013171.1:c.1390C>T, XM_017013171.1:c.1390C>G, XM_047421450.1:c.1321C>T, XM_047421450.1:c.1321C>G, XM_047421455.1:c.1318C>T, XM_047421455.1:c.1318C>G, NM_001130054.1:c.1390C>T, NM_001130054.1:c.1390C>G, XM_047421421.1:c.1516C>T, XM_047421421.1:c.1516C>G, XM_047421423.1:c.1516C>T, XM_047421423.1:c.1516C>G, XM_047421452.1:c.1321C>T, XM_047421452.1:c.1321C>G, XM_047421433.1:c.1393C>T, XM_047421433.1:c.1393C>G, XM_047421451.1:c.1321C>T, XM_047421451.1:c.1321C>G, XM_047421424.1:c.1441C>T, XM_047421424.1:c.1441C>G, XM_047421420.1:c.1516C>T, XM_047421420.1:c.1516C>G, XM_047421422.1:c.1516C>T, XM_047421422.1:c.1516C>G, XM_047421434.1:c.1393C>T, XM_047421434.1:c.1393C>G, XM_047421429.1:c.1393C>T, XM_047421429.1:c.1393C>G, XM_047421444.1:c.1390C>T, XM_047421444.1:c.1390C>G, XM_047421440.1:c.1393C>T, XM_047421440.1:c.1393C>G, NP_115754.4:p.Gln465Ter, NP_115754.4:p.Gln465Glu, NP_001951.2:p.Gln99Ter, NP_001951.2:p.Gln99Glu, XP_006716582.3:p.Gln505Ter, XP_006716582.3:p.Gln505Glu, XP_006716583.3:p.Gln482Ter, XP_006716583.3:p.Gln482Glu, NP_001123525.3:p.Gln465Ter, NP_001123525.3:p.Gln465Glu, NP_001123528.1:p.Gln75Ter, NP_001123528.1:p.Gln75Glu, NP_001123529.1:p.Gln99Ter, NP_001123529.1:p.Gln99Glu, NP_001123527.1:p.Gln99Ter, NP_001123527.1:p.Gln99Glu, NP_001276879.1:p.Gln99Ter, NP_001276879.1:p.Gln99Glu, NP_001182132.1:p.Gln80Ter, NP_001182132.1:p.Gln80Glu, NP_001304672.1:p.Gln75Ter, NP_001304672.1:p.Gln75Glu, NP_001317575.1:p.Gln75Ter, NP_001317575.1:p.Gln75Glu, XP_006716585.1:p.Gln465Ter, XP_006716585.1:p.Gln465Glu, XP_006716587.1:p.Gln465Ter, XP_006716587.1:p.Gln465Glu, XP_024302856.1:p.Gln464Ter, XP_024302856.1:p.Gln464Glu, XP_006716588.1:p.Gln99Ter, XP_006716588.1:p.Gln99Glu, XP_047277382.1:p.Gln465Ter, XP_047277382.1:p.Gln465Glu, XP_047277399.1:p.Gln464Ter, XP_047277399.1:p.Gln464Glu, XP_047277403.1:p.Gln441Ter, XP_047277403.1:p.Gln441Glu, XP_047277410.1:p.Gln440Ter, XP_047277410.1:p.Gln440Glu, XP_047277384.1:p.Gln465Ter, XP_047277384.1:p.Gln465Glu, XP_047277404.1:p.Gln441Ter, XP_047277404.1:p.Gln441Glu, XP_047277391.1:p.Gln465Ter, XP_047277391.1:p.Gln465Glu, XP_047277383.1:p.Gln465Ter, XP_047277383.1:p.Gln465Glu, XP_047277392.1:p.Gln465Ter, XP_047277392.1:p.Gln465Glu, XP_047277393.1:p.Gln465Ter, XP_047277393.1:p.Gln465Glu, XP_047277394.1:p.Gln465Ter, XP_047277394.1:p.Gln465Glu, XP_047277387.1:p.Gln465Ter, XP_047277387.1:p.Gln465Glu, XP_047277405.1:p.Gln441Ter, XP_047277405.1:p.Gln441Glu, XP_047277395.1:p.Gln465Ter, XP_047277395.1:p.Gln465Glu, XP_047277381.1:p.Gln466Ter, XP_047277381.1:p.Gln466Glu, XP_047277409.1:p.Gln441Ter, XP_047277409.1:p.Gln441Glu, XP_047277402.1:p.Gln442Ter, XP_047277402.1:p.Gln442Glu, XP_047277386.1:p.Gln465Ter, XP_047277386.1:p.Gln465Glu, XP_047277388.1:p.Gln465Ter, XP_047277388.1:p.Gln465Glu, XP_047277398.1:p.Gln465Ter, XP_047277398.1:p.Gln465Glu, XP_047277401.1:p.Gln464Ter, XP_047277401.1:p.Gln464Glu, XP_047277397.1:p.Gln465Ter, XP_047277397.1:p.Gln465Glu, XP_005250880.1:p.Gln465Ter, XP_005250880.1:p.Gln465Glu, XP_016868660.1:p.Gln464Ter, XP_016868660.1:p.Gln464Glu, XP_047277406.1:p.Gln441Ter, XP_047277406.1:p.Gln441Glu, XP_047277411.1:p.Gln440Ter, XP_047277411.1:p.Gln440Glu, XP_047277377.1:p.Gln506Ter, XP_047277377.1:p.Gln506Glu, XP_047277379.1:p.Gln506Ter, XP_047277379.1:p.Gln506Glu, XP_047277408.1:p.Gln441Ter, XP_047277408.1:p.Gln441Glu, XP_047277389.1:p.Gln465Ter, XP_047277389.1:p.Gln465Glu, XP_047277407.1:p.Gln441Ter, XP_047277407.1:p.Gln441Glu, XP_047277380.1:p.Gln481Ter, XP_047277380.1:p.Gln481Glu, XP_047277376.1:p.Gln506Ter, XP_047277376.1:p.Gln506Glu, XP_047277378.1:p.Gln506Ter, XP_047277378.1:p.Gln506Glu, XP_047277390.1:p.Gln465Ter, XP_047277390.1:p.Gln465Glu, XP_047277385.1:p.Gln465Ter, XP_047277385.1:p.Gln465Glu, XP_047277400.1:p.Gln464Ter, XP_047277400.1:p.Gln464Glu, XP_047277396.1:p.Gln465Ter, XP_047277396.1:p.Gln465Glu

                            14.

                            rs1435470728 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              8:143581320 (GRCh38)
                              8:144663490 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:143581319:G:T
                              Gene:
                              EEF1D (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.143581320G>T, NC_000008.10:g.144663490G>T, NT_187571.1:g.71360G>T, NM_032378.7:c.1296C>A, NM_032378.6:c.1296C>A, NM_032378.5:c.1296C>A, NM_032378.4:c.1296C>A, NM_001960.7:c.198C>A, NM_001960.6:c.198C>A, NM_001960.5:c.198C>A, NM_001960.4:c.198C>A, XM_006716519.5:c.1416C>A, XM_006716519.4:c.1293C>A, XM_006716519.3:c.1416C>A, XM_006716519.2:c.1416C>A, XM_006716519.1:c.1416C>A, XM_006716520.5:c.1347C>A, XM_006716520.4:c.1224C>A, XM_006716520.3:c.1347C>A, XM_006716520.2:c.1347C>A, XM_006716520.1:c.1347C>A, NM_001130053.5:c.1296C>A, NM_001130053.4:c.1296C>A, NM_001130053.3:c.1296C>A, NM_001130053.2:c.1296C>A, NM_001130056.5:c.126C>A, NM_001130056.4:c.126C>A, NM_001130056.3:c.126C>A, NM_001130056.2:c.126C>A, NM_001130055.4:c.198C>A, NM_001130055.3:c.198C>A, NM_001130055.2:c.198C>A, NM_001289950.4:c.198C>A, NM_001289950.3:c.198C>A, NM_001289950.2:c.198C>A, NM_001289950.1:c.198C>A, NM_001195203.4:c.198C>A, NM_001195203.3:c.198C>A, NM_001195203.2:c.198C>A, NM_001195203.1:c.198C>A, NM_001317743.4:c.126C>A, NM_001317743.3:c.126C>A, NM_001317743.2:c.126C>A, NM_001317743.1:c.126C>A, NM_001130057.4:c.198C>A, NM_001130057.3:c.198C>A, NM_001130057.2:c.198C>A, XM_047421437.1:c.1296C>A, NM_001330646.3:c.126C>A, NM_001330646.2:c.126C>A, NM_001330646.1:c.126C>A, XM_006716522.2:c.1296C>A, XM_006716522.1:c.1296C>A, XM_024447088.2:c.1293C>A, XM_024447088.1:c.1293C>A, XM_006716525.2:c.198C>A, XM_006716525.1:c.198C>A, XM_047421447.1:c.1224C>A, XM_047421454.1:c.1221C>A, XM_047421420.1:c.1419C>A, XM_047421424.1:c.1344C>A, XM_047421428.1:c.1296C>A, XM_047421436.1:c.1296C>A, XM_047421439.1:c.1296C>A, XM_047421453.1:c.1224C>A, XM_047421446.1:c.1227C>A, XM_047421432.1:c.1296C>A, XM_047421421.1:c.1419C>A, XM_047421445.1:c.1293C>A, XM_047421441.1:c.1296C>A, XM_005250823.1:c.1296C>A, NM_001130054.1:c.1293C>A, XM_047421455.1:c.1221C>A, XM_047421423.1:c.1419C>A, XM_047421452.1:c.1224C>A, XM_047421438.1:c.1296C>A, XM_047421425.1:c.1299C>A, XM_047421442.1:c.1296C>A, XM_047421450.1:c.1224C>A, XM_006716524.2:c.1296C>A, XM_006716524.1:c.1296C>A, XM_047421426.1:c.1296C>A, XM_047421443.1:c.1293C>A, XM_047421434.1:c.1296C>A, XM_047421444.1:c.1293C>A, XM_047421448.1:c.1224C>A, XM_047421431.1:c.1296C>A, XM_047421449.1:c.1224C>A, XM_047421440.1:c.1296C>A, XM_047421430.1:c.1296C>A, XM_047421422.1:c.1419C>A, XM_047421433.1:c.1296C>A, XM_017013171.1:c.1293C>A, XM_047421429.1:c.1296C>A, XM_047421435.1:c.1296C>A, XM_047421427.1:c.1296C>A, XM_047421451.1:c.1224C>A

                              15.

                              rs1434455433 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:143586785 (GRCh38)
                                8:144668955 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:143586784:C:T
                                Gene:
                                EEF1D (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.143586785C>T, NC_000008.10:g.144668955C>T, NT_187571.1:g.76825C>T, NM_032378.7:c.1159G>A, NM_032378.6:c.1159G>A, NM_032378.5:c.1159G>A, NM_032378.4:c.1159G>A, NM_001960.7:c.61G>A, NM_001960.6:c.61G>A, NM_001960.5:c.61G>A, NM_001960.4:c.61G>A, XM_006716519.5:c.1279G>A, XM_006716519.4:c.1156G>A, XM_006716519.3:c.1279G>A, XM_006716519.2:c.1279G>A, XM_006716519.1:c.1279G>A, XM_006716520.5:c.1282G>A, XM_006716520.4:c.1159G>A, XM_006716520.3:c.1282G>A, XM_006716520.2:c.1282G>A, XM_006716520.1:c.1282G>A, NM_001130053.5:c.1159G>A, NM_001130053.4:c.1159G>A, NM_001130053.3:c.1159G>A, NM_001130053.2:c.1159G>A, NM_001130056.5:c.61G>A, NM_001130056.4:c.61G>A, NM_001130056.3:c.61G>A, NM_001130056.2:c.61G>A, NM_001130055.4:c.61G>A, NM_001130055.3:c.61G>A, NM_001130055.2:c.61G>A, NM_001289950.4:c.61G>A, NM_001289950.3:c.61G>A, NM_001289950.2:c.61G>A, NM_001289950.1:c.61G>A, NM_001195203.4:c.61G>A, NM_001195203.3:c.61G>A, NM_001195203.2:c.61G>A, NM_001195203.1:c.61G>A, NM_001317743.4:c.61G>A, NM_001317743.3:c.61G>A, NM_001317743.2:c.61G>A, NM_001317743.1:c.61G>A, NM_001130057.4:c.61G>A, NM_001130057.3:c.61G>A, NM_001130057.2:c.61G>A, XM_047421437.1:c.1159G>A, XM_006716522.2:c.1159G>A, XM_006716522.1:c.1159G>A, XM_047421431.1:c.1159G>A, XM_047421433.1:c.1159G>A, XM_047421436.1:c.1159G>A, XM_047421455.1:c.1156G>A, NM_001330646.3:c.61G>A, NM_001330646.2:c.61G>A, NM_001330646.1:c.61G>A, XM_047421430.1:c.1159G>A, XM_047421446.1:c.1162G>A, XM_047421451.1:c.1159G>A, XM_005250823.1:c.1159G>A, XM_047421439.1:c.1159G>A, XM_047421445.1:c.1156G>A, XM_047421441.1:c.1159G>A, XM_047421421.1:c.1282G>A, XM_047421432.1:c.1159G>A, XM_017013171.1:c.1156G>A, NM_001130054.1:c.1156G>A, XM_047421450.1:c.1159G>A, XM_047421452.1:c.1159G>A, XM_047421438.1:c.1159G>A, XM_024447088.2:c.1156G>A, XM_024447088.1:c.1156G>A, XM_006716525.2:c.61G>A, XM_006716525.1:c.61G>A, XM_047421426.1:c.1159G>A, XM_047421434.1:c.1159G>A, XM_047421435.1:c.1159G>A, XM_047421427.1:c.1159G>A, XM_047421449.1:c.1159G>A, XM_047421440.1:c.1159G>A, XM_047421425.1:c.1162G>A, XM_047421442.1:c.1159G>A, XM_047421448.1:c.1159G>A, XM_047421447.1:c.1159G>A, XM_047421424.1:c.1279G>A, XM_047421420.1:c.1282G>A, XM_047421428.1:c.1159G>A, XM_047421453.1:c.1159G>A, XM_047421444.1:c.1156G>A, XM_047421423.1:c.1282G>A, XM_006716524.2:c.1159G>A, XM_006716524.1:c.1159G>A, XM_047421443.1:c.1156G>A, XM_047421454.1:c.1156G>A, XM_047421429.1:c.1159G>A, XM_047421422.1:c.1282G>A, NP_115754.4:p.Ala387Thr, NP_001951.2:p.Ala21Thr, XP_006716582.3:p.Ala427Thr, XP_006716583.3:p.Ala428Thr, NP_001123525.3:p.Ala387Thr, NP_001123528.1:p.Ala21Thr, NP_001123527.1:p.Ala21Thr, NP_001276879.1:p.Ala21Thr, NP_001182132.1:p.Ala21Thr, NP_001304672.1:p.Ala21Thr, NP_001123529.1:p.Ala21Thr, XP_047277393.1:p.Ala387Thr, XP_006716585.1:p.Ala387Thr, XP_047277387.1:p.Ala387Thr, XP_047277389.1:p.Ala387Thr, XP_047277392.1:p.Ala387Thr, XP_047277411.1:p.Ala386Thr, NP_001317575.1:p.Ala21Thr, XP_047277386.1:p.Ala387Thr, XP_047277402.1:p.Ala388Thr, XP_047277407.1:p.Ala387Thr, XP_005250880.1:p.Ala387Thr, XP_047277395.1:p.Ala387Thr, XP_047277401.1:p.Ala386Thr, XP_047277397.1:p.Ala387Thr, XP_047277377.1:p.Ala428Thr, XP_047277388.1:p.Ala387Thr, XP_016868660.1:p.Ala386Thr, XP_047277406.1:p.Ala387Thr, XP_047277408.1:p.Ala387Thr, XP_047277394.1:p.Ala387Thr, XP_024302856.1:p.Ala386Thr, XP_006716588.1:p.Ala21Thr, XP_047277382.1:p.Ala387Thr, XP_047277390.1:p.Ala387Thr, XP_047277391.1:p.Ala387Thr, XP_047277383.1:p.Ala387Thr, XP_047277405.1:p.Ala387Thr, XP_047277396.1:p.Ala387Thr, XP_047277381.1:p.Ala388Thr, XP_047277398.1:p.Ala387Thr, XP_047277404.1:p.Ala387Thr, XP_047277403.1:p.Ala387Thr, XP_047277380.1:p.Ala427Thr, XP_047277376.1:p.Ala428Thr, XP_047277384.1:p.Ala387Thr, XP_047277409.1:p.Ala387Thr, XP_047277400.1:p.Ala386Thr, XP_047277379.1:p.Ala428Thr, XP_006716587.1:p.Ala387Thr, XP_047277399.1:p.Ala386Thr, XP_047277410.1:p.Ala386Thr, XP_047277385.1:p.Ala387Thr, XP_047277378.1:p.Ala428Thr

                                16.

                                rs1433585347 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  8:143581078 (GRCh38)
                                  8:144663248 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:143581077:G:A,NC_000008.11:143581077:G:C
                                  Gene:
                                  EEF1D (Varview)
                                  Functional Consequence:
                                  synonymous_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000051/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000008.11:g.143581078G>A, NC_000008.11:g.143581078G>C, NC_000008.10:g.144663248G>A, NC_000008.10:g.144663248G>C, NT_187571.1:g.71118G>A, NT_187571.1:g.71118G>C, NM_032378.7:c.1464C>T, NM_032378.7:c.1464C>G, NM_032378.6:c.1464C>T, NM_032378.6:c.1464C>G, NM_032378.5:c.1464C>T, NM_032378.5:c.1464C>G, NM_032378.4:c.1464C>T, NM_032378.4:c.1464C>G, NM_001960.7:c.366C>T, NM_001960.7:c.366C>G, NM_001960.6:c.366C>T, NM_001960.6:c.366C>G, NM_001960.5:c.366C>T, NM_001960.5:c.366C>G, NM_001960.4:c.366C>T, NM_001960.4:c.366C>G, XM_006716519.5:c.1584C>T, XM_006716519.5:c.1584C>G, XM_006716519.4:c.1461C>T, XM_006716519.4:c.1461C>G, XM_006716519.3:c.1584C>T, XM_006716519.3:c.1584C>G, XM_006716519.2:c.1584C>T, XM_006716519.2:c.1584C>G, XM_006716519.1:c.1584C>T, XM_006716519.1:c.1584C>G, XM_006716520.5:c.1515C>T, XM_006716520.5:c.1515C>G, XM_006716520.4:c.1392C>T, XM_006716520.4:c.1392C>G, XM_006716520.3:c.1515C>T, XM_006716520.3:c.1515C>G, XM_006716520.2:c.1515C>T, XM_006716520.2:c.1515C>G, XM_006716520.1:c.1515C>T, XM_006716520.1:c.1515C>G, NM_001130053.5:c.1464C>T, NM_001130053.5:c.1464C>G, NM_001130053.4:c.1464C>T, NM_001130053.4:c.1464C>G, NM_001130053.3:c.1464C>T, NM_001130053.3:c.1464C>G, NM_001130053.2:c.1464C>T, NM_001130053.2:c.1464C>G, NM_001130056.5:c.294C>T, NM_001130056.5:c.294C>G, NM_001130056.4:c.294C>T, NM_001130056.4:c.294C>G, NM_001130056.3:c.294C>T, NM_001130056.3:c.294C>G, NM_001130056.2:c.294C>T, NM_001130056.2:c.294C>G, NM_001130055.4:c.366C>T, NM_001130055.4:c.366C>G, NM_001130055.3:c.366C>T, NM_001130055.3:c.366C>G, NM_001130055.2:c.366C>T, NM_001130055.2:c.366C>G, NM_001289950.4:c.366C>T, NM_001289950.4:c.366C>G, NM_001289950.3:c.366C>T, NM_001289950.3:c.366C>G, NM_001289950.2:c.366C>T, NM_001289950.2:c.366C>G, NM_001289950.1:c.366C>T, NM_001289950.1:c.366C>G, NM_001195203.4:c.309C>T, NM_001195203.4:c.309C>G, NM_001195203.3:c.309C>T, NM_001195203.3:c.309C>G, NM_001195203.2:c.309C>T, NM_001195203.2:c.309C>G, NM_001195203.1:c.309C>T, NM_001195203.1:c.309C>G, NM_001317743.4:c.294C>T, NM_001317743.4:c.294C>G, NM_001317743.3:c.294C>T, NM_001317743.3:c.294C>G, NM_001317743.2:c.294C>T, NM_001317743.2:c.294C>G, NM_001317743.1:c.294C>T, NM_001317743.1:c.294C>G, NM_001130057.4:c.366C>T, NM_001130057.4:c.366C>G, NM_001130057.3:c.366C>T, NM_001130057.3:c.366C>G, NM_001130057.2:c.366C>T, NM_001130057.2:c.366C>G, XM_047421437.1:c.1464C>T, XM_047421437.1:c.1464C>G, XM_047421433.1:c.1464C>T, XM_047421433.1:c.1464C>G, XM_047421431.1:c.1464C>T, XM_047421431.1:c.1464C>G, XM_047421436.1:c.1464C>T, XM_047421436.1:c.1464C>G, XM_047421455.1:c.1389C>T, XM_047421455.1:c.1389C>G, NM_001330646.3:c.294C>T, NM_001330646.3:c.294C>G, NM_001330646.2:c.294C>T, NM_001330646.2:c.294C>G, NM_001330646.1:c.294C>T, NM_001330646.1:c.294C>G, XM_006716524.2:c.1464C>T, XM_006716524.2:c.1464C>G, XM_006716524.1:c.1464C>T, XM_006716524.1:c.1464C>G, XM_024447088.2:c.1461C>T, XM_024447088.2:c.1461C>G, XM_024447088.1:c.1461C>T, XM_024447088.1:c.1461C>G, XM_006716525.2:c.366C>T, XM_006716525.2:c.366C>G, XM_006716525.1:c.366C>T, XM_006716525.1:c.366C>G, XM_006716522.2:c.1464C>T, XM_006716522.2:c.1464C>G, XM_006716522.1:c.1464C>T, XM_006716522.1:c.1464C>G, XM_047421426.1:c.1464C>T, XM_047421426.1:c.1464C>G, XM_047421447.1:c.1392C>T, XM_047421447.1:c.1392C>G, XM_047421454.1:c.1389C>T, XM_047421454.1:c.1389C>G, XM_047421420.1:c.1587C>T, XM_047421420.1:c.1587C>G, XM_047421428.1:c.1464C>T, XM_047421428.1:c.1464C>G, XM_047421434.1:c.1464C>T, XM_047421434.1:c.1464C>G, XM_047421429.1:c.1464C>T, XM_047421429.1:c.1464C>G, XM_047421444.1:c.1461C>T, XM_047421444.1:c.1461C>G, XM_047421452.1:c.1392C>T, XM_047421452.1:c.1392C>G, XM_047421448.1:c.1392C>T, XM_047421448.1:c.1392C>G, XM_047421427.1:c.1464C>T, XM_047421427.1:c.1464C>G, XM_047421438.1:c.1464C>T, XM_047421438.1:c.1464C>G, XM_047421449.1:c.1392C>T, XM_047421449.1:c.1392C>G, XM_047421439.1:c.1464C>T, XM_047421439.1:c.1464C>G, XM_047421440.1:c.1464C>T, XM_047421440.1:c.1464C>G, XM_047421425.1:c.1467C>T, XM_047421425.1:c.1467C>G, XM_047421453.1:c.1392C>T, XM_047421453.1:c.1392C>G, XM_047421446.1:c.1395C>T, XM_047421446.1:c.1395C>G, XM_047421430.1:c.1464C>T, XM_047421430.1:c.1464C>G, XM_047421432.1:c.1464C>T, XM_047421432.1:c.1464C>G, XM_047421421.1:c.1587C>T, XM_047421421.1:c.1587C>G, XM_047421423.1:c.1587C>T, XM_047421423.1:c.1587C>G, XM_047421442.1:c.1464C>T, XM_047421442.1:c.1464C>G, XM_047421445.1:c.1461C>T, XM_047421445.1:c.1461C>G, NM_001130054.1:c.1461C>T, NM_001130054.1:c.1461C>G, XM_005250823.1:c.1464C>T, XM_005250823.1:c.1464C>G, XM_017013171.1:c.1461C>T, XM_017013171.1:c.1461C>G, XM_047421450.1:c.1392C>T, XM_047421450.1:c.1392C>G, XM_047421443.1:c.1461C>T, XM_047421443.1:c.1461C>G, XM_047421441.1:c.1464C>T, XM_047421441.1:c.1464C>G, XM_047421424.1:c.1512C>T, XM_047421424.1:c.1512C>G, XM_047421422.1:c.1587C>T, XM_047421422.1:c.1587C>G, XM_047421435.1:c.1464C>T, XM_047421435.1:c.1464C>G, XM_047421451.1:c.1392C>T, XM_047421451.1:c.1392C>G, NP_115754.4:p.His488Gln, NP_001951.2:p.His122Gln, XP_006716582.3:p.His528Gln, XP_006716583.3:p.His505Gln, NP_001123525.3:p.His488Gln, NP_001123528.1:p.His98Gln, NP_001123527.1:p.His122Gln, NP_001276879.1:p.His122Gln, NP_001182132.1:p.His103Gln, NP_001304672.1:p.His98Gln, NP_001123529.1:p.His122Gln, XP_047277393.1:p.His488Gln, XP_047277389.1:p.His488Gln, XP_047277387.1:p.His488Gln, XP_047277392.1:p.His488Gln, XP_047277411.1:p.His463Gln, NP_001317575.1:p.His98Gln, XP_006716587.1:p.His488Gln, XP_024302856.1:p.His487Gln, XP_006716588.1:p.His122Gln, XP_006716585.1:p.His488Gln, XP_047277382.1:p.His488Gln, XP_047277403.1:p.His464Gln, XP_047277410.1:p.His463Gln, XP_047277376.1:p.His529Gln, XP_047277384.1:p.His488Gln, XP_047277390.1:p.His488Gln, XP_047277385.1:p.His488Gln, XP_047277400.1:p.His487Gln, XP_047277408.1:p.His464Gln, XP_047277404.1:p.His464Gln, XP_047277383.1:p.His488Gln, XP_047277394.1:p.His488Gln, XP_047277405.1:p.His464Gln, XP_047277395.1:p.His488Gln, XP_047277396.1:p.His488Gln, XP_047277381.1:p.His489Gln, XP_047277409.1:p.His464Gln, XP_047277402.1:p.His465Gln, XP_047277386.1:p.His488Gln, XP_047277388.1:p.His488Gln, XP_047277377.1:p.His529Gln, XP_047277379.1:p.His529Gln, XP_047277398.1:p.His488Gln, XP_047277401.1:p.His487Gln, XP_005250880.1:p.His488Gln, XP_016868660.1:p.His487Gln, XP_047277406.1:p.His464Gln, XP_047277399.1:p.His487Gln, XP_047277397.1:p.His488Gln, XP_047277380.1:p.His504Gln, XP_047277378.1:p.His529Gln, XP_047277391.1:p.His488Gln, XP_047277407.1:p.His464Gln

                                  17.

                                  rs1429858972 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    8:143580187 (GRCh38)
                                    8:144662357 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:143580186:A:G
                                    Gene:
                                    EEF1D (Varview), NAPRT (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.143580187A>G, NC_000008.10:g.144662357A>G, NT_187571.1:g.70227A>G, NM_032378.7:c.1730T>C, NM_032378.6:c.1730T>C, NM_032378.5:c.1730T>C, NM_032378.4:c.1730T>C, NM_001960.7:c.632T>C, NM_001960.6:c.632T>C, NM_001960.5:c.632T>C, NM_001960.4:c.632T>C, XM_006716519.5:c.1850T>C, XM_006716519.4:c.1727T>C, XM_006716519.3:c.1850T>C, XM_006716519.2:c.1850T>C, XM_006716519.1:c.1850T>C, XM_006716520.5:c.1781T>C, XM_006716520.4:c.1658T>C, XM_006716520.3:c.1781T>C, XM_006716520.2:c.1781T>C, XM_006716520.1:c.1781T>C, NM_001130053.5:c.1730T>C, NM_001130053.4:c.1730T>C, NM_001130053.3:c.1730T>C, NM_001130053.2:c.1730T>C, NM_001130056.5:c.560T>C, NM_001130056.4:c.560T>C, NM_001130056.3:c.560T>C, NM_001130056.2:c.560T>C, NM_001130057.4:c.632T>C, NM_001130057.3:c.632T>C, NM_001130057.2:c.632T>C, NM_001130055.4:c.632T>C, NM_001130055.3:c.632T>C, NM_001130055.2:c.632T>C, NM_001289950.4:c.632T>C, NM_001289950.3:c.632T>C, NM_001289950.2:c.632T>C, NM_001289950.1:c.632T>C, NM_001195203.4:c.575T>C, NM_001195203.3:c.575T>C, NM_001195203.2:c.575T>C, NM_001195203.1:c.575T>C, NM_001317743.4:c.560T>C, NM_001317743.3:c.560T>C, NM_001317743.2:c.560T>C, NM_001317743.1:c.560T>C, NM_001330646.3:c.560T>C, NM_001330646.2:c.560T>C, NM_001330646.1:c.560T>C, XM_006716522.2:c.1730T>C, XM_006716522.1:c.1730T>C, XM_024447088.2:c.1727T>C, XM_024447088.1:c.1727T>C, XM_006716525.2:c.632T>C, XM_006716525.1:c.632T>C, XM_047421454.1:c.1655T>C, XM_047421428.1:c.1730T>C, XM_047421448.1:c.1658T>C, XM_047421427.1:c.1730T>C, XM_047421449.1:c.1658T>C, XM_047421439.1:c.1730T>C, XM_047421425.1:c.1733T>C, XM_047421453.1:c.1658T>C, XM_047421446.1:c.1661T>C, XM_047421430.1:c.1730T>C, XM_047421432.1:c.1730T>C, XM_047421442.1:c.1730T>C, XM_047421445.1:c.1727T>C, XM_047421451.1:c.1658T>C, XM_047421441.1:c.1730T>C, XM_005250823.1:c.1730T>C, XM_017013171.1:c.1727T>C, NM_001130054.1:c.1727T>C, XM_047421421.1:c.1853T>C, XM_047421423.1:c.1853T>C, XM_047421450.1:c.1658T>C, XM_047421452.1:c.1658T>C, XM_047421433.1:c.1730T>C, XM_047421435.1:c.1730T>C, XM_006716524.2:c.1730T>C, XM_006716524.1:c.1730T>C, XM_047421436.1:c.1730T>C, XM_047421438.1:c.1730T>C, XM_047421455.1:c.1655T>C, XM_047421437.1:c.1730T>C, XM_047421447.1:c.1658T>C, XM_047421424.1:c.1778T>C, XM_047421420.1:c.1853T>C, XM_047421440.1:c.1730T>C, XM_047421422.1:c.1853T>C, XM_047421434.1:c.1730T>C, XM_047421443.1:c.1727T>C, XM_047421429.1:c.1730T>C, XM_047421444.1:c.1727T>C, XM_047421431.1:c.1730T>C, XM_047421426.1:c.1730T>C, NP_115754.4:p.Met577Thr, NP_001951.2:p.Met211Thr, XP_006716582.3:p.Met617Thr, XP_006716583.3:p.Met594Thr, NP_001123525.3:p.Met577Thr, NP_001123528.1:p.Met187Thr, NP_001123529.1:p.Met211Thr, NP_001123527.1:p.Met211Thr, NP_001276879.1:p.Met211Thr, NP_001182132.1:p.Met192Thr, NP_001304672.1:p.Met187Thr, NP_001317575.1:p.Met187Thr, XP_006716585.1:p.Met577Thr, XP_024302856.1:p.Met576Thr, XP_006716588.1:p.Met211Thr, XP_047277410.1:p.Met552Thr, XP_047277384.1:p.Met577Thr, XP_047277404.1:p.Met553Thr, XP_047277383.1:p.Met577Thr, XP_047277405.1:p.Met553Thr, XP_047277395.1:p.Met577Thr, XP_047277381.1:p.Met578Thr, XP_047277409.1:p.Met553Thr, XP_047277402.1:p.Met554Thr, XP_047277386.1:p.Met577Thr, XP_047277388.1:p.Met577Thr, XP_047277398.1:p.Met577Thr, XP_047277401.1:p.Met576Thr, XP_047277407.1:p.Met553Thr, XP_047277397.1:p.Met577Thr, XP_005250880.1:p.Met577Thr, XP_016868660.1:p.Met576Thr, XP_047277377.1:p.Met618Thr, XP_047277379.1:p.Met618Thr, XP_047277406.1:p.Met553Thr, XP_047277408.1:p.Met553Thr, XP_047277389.1:p.Met577Thr, XP_047277391.1:p.Met577Thr, XP_006716587.1:p.Met577Thr, XP_047277392.1:p.Met577Thr, XP_047277394.1:p.Met577Thr, XP_047277411.1:p.Met552Thr, XP_047277393.1:p.Met577Thr, XP_047277403.1:p.Met553Thr, XP_047277380.1:p.Met593Thr, XP_047277376.1:p.Met618Thr, XP_047277396.1:p.Met577Thr, XP_047277378.1:p.Met618Thr, XP_047277390.1:p.Met577Thr, XP_047277399.1:p.Met576Thr, XP_047277385.1:p.Met577Thr, XP_047277400.1:p.Met576Thr, XP_047277387.1:p.Met577Thr, XP_047277382.1:p.Met577Thr

                                    18.

                                    rs1424421626 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      8:143581109 (GRCh38)
                                      8:144663279 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:143581108:A:G
                                      Gene:
                                      EEF1D (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.143581109A>G, NC_000008.10:g.144663279A>G, NT_187571.1:g.71149A>G, NM_032378.7:c.1433T>C, NM_032378.6:c.1433T>C, NM_032378.5:c.1433T>C, NM_032378.4:c.1433T>C, NM_001960.7:c.335T>C, NM_001960.6:c.335T>C, NM_001960.5:c.335T>C, NM_001960.4:c.335T>C, XM_006716519.5:c.1553T>C, XM_006716519.4:c.1430T>C, XM_006716519.3:c.1553T>C, XM_006716519.2:c.1553T>C, XM_006716519.1:c.1553T>C, XM_006716520.5:c.1484T>C, XM_006716520.4:c.1361T>C, XM_006716520.3:c.1484T>C, XM_006716520.2:c.1484T>C, XM_006716520.1:c.1484T>C, NM_001130053.5:c.1433T>C, NM_001130053.4:c.1433T>C, NM_001130053.3:c.1433T>C, NM_001130053.2:c.1433T>C, NM_001130056.5:c.263T>C, NM_001130056.4:c.263T>C, NM_001130056.3:c.263T>C, NM_001130056.2:c.263T>C, NM_001130055.4:c.335T>C, NM_001130055.3:c.335T>C, NM_001130055.2:c.335T>C, NM_001289950.4:c.335T>C, NM_001289950.3:c.335T>C, NM_001289950.2:c.335T>C, NM_001289950.1:c.335T>C, NM_001195203.4:c.278T>C, NM_001195203.3:c.278T>C, NM_001195203.2:c.278T>C, NM_001195203.1:c.278T>C, NM_001317743.4:c.263T>C, NM_001317743.3:c.263T>C, NM_001317743.2:c.263T>C, NM_001317743.1:c.263T>C, NM_001130057.4:c.335T>C, NM_001130057.3:c.335T>C, NM_001130057.2:c.335T>C, XM_047421437.1:c.1433T>C, XM_006716522.2:c.1433T>C, XM_006716522.1:c.1433T>C, XM_047421431.1:c.1433T>C, XM_047421433.1:c.1433T>C, XM_047421436.1:c.1433T>C, XM_047421455.1:c.1358T>C, NM_001330646.3:c.263T>C, NM_001330646.2:c.263T>C, NM_001330646.1:c.263T>C, XM_047421430.1:c.1433T>C, XM_047421446.1:c.1364T>C, XM_047421451.1:c.1361T>C, XM_005250823.1:c.1433T>C, XM_047421439.1:c.1433T>C, XM_047421445.1:c.1430T>C, XM_047421441.1:c.1433T>C, XM_047421421.1:c.1556T>C, XM_047421432.1:c.1433T>C, XM_017013171.1:c.1430T>C, NM_001130054.1:c.1430T>C, XM_047421450.1:c.1361T>C, XM_047421452.1:c.1361T>C, XM_047421438.1:c.1433T>C, XM_024447088.2:c.1430T>C, XM_024447088.1:c.1430T>C, XM_006716525.2:c.335T>C, XM_006716525.1:c.335T>C, XM_047421426.1:c.1433T>C, XM_047421434.1:c.1433T>C, XM_047421435.1:c.1433T>C, XM_047421427.1:c.1433T>C, XM_047421449.1:c.1361T>C, XM_047421440.1:c.1433T>C, XM_047421425.1:c.1436T>C, XM_047421442.1:c.1433T>C, XM_047421448.1:c.1361T>C, XM_047421447.1:c.1361T>C, XM_047421424.1:c.1481T>C, XM_047421420.1:c.1556T>C, XM_047421428.1:c.1433T>C, XM_047421453.1:c.1361T>C, XM_047421444.1:c.1430T>C, XM_047421423.1:c.1556T>C, XM_006716524.2:c.1433T>C, XM_006716524.1:c.1433T>C, XM_047421443.1:c.1430T>C, XM_047421454.1:c.1358T>C, XM_047421429.1:c.1433T>C, XM_047421422.1:c.1556T>C, NP_115754.4:p.Leu478Pro, NP_001951.2:p.Leu112Pro, XP_006716582.3:p.Leu518Pro, XP_006716583.3:p.Leu495Pro, NP_001123525.3:p.Leu478Pro, NP_001123528.1:p.Leu88Pro, NP_001123527.1:p.Leu112Pro, NP_001276879.1:p.Leu112Pro, NP_001182132.1:p.Leu93Pro, NP_001304672.1:p.Leu88Pro, NP_001123529.1:p.Leu112Pro, XP_047277393.1:p.Leu478Pro, XP_006716585.1:p.Leu478Pro, XP_047277387.1:p.Leu478Pro, XP_047277389.1:p.Leu478Pro, XP_047277392.1:p.Leu478Pro, XP_047277411.1:p.Leu453Pro, NP_001317575.1:p.Leu88Pro, XP_047277386.1:p.Leu478Pro, XP_047277402.1:p.Leu455Pro, XP_047277407.1:p.Leu454Pro, XP_005250880.1:p.Leu478Pro, XP_047277395.1:p.Leu478Pro, XP_047277401.1:p.Leu477Pro, XP_047277397.1:p.Leu478Pro, XP_047277377.1:p.Leu519Pro, XP_047277388.1:p.Leu478Pro, XP_016868660.1:p.Leu477Pro, XP_047277406.1:p.Leu454Pro, XP_047277408.1:p.Leu454Pro, XP_047277394.1:p.Leu478Pro, XP_024302856.1:p.Leu477Pro, XP_006716588.1:p.Leu112Pro, XP_047277382.1:p.Leu478Pro, XP_047277390.1:p.Leu478Pro, XP_047277391.1:p.Leu478Pro, XP_047277383.1:p.Leu478Pro, XP_047277405.1:p.Leu454Pro, XP_047277396.1:p.Leu478Pro, XP_047277381.1:p.Leu479Pro, XP_047277398.1:p.Leu478Pro, XP_047277404.1:p.Leu454Pro, XP_047277403.1:p.Leu454Pro, XP_047277380.1:p.Leu494Pro, XP_047277376.1:p.Leu519Pro, XP_047277384.1:p.Leu478Pro, XP_047277409.1:p.Leu454Pro, XP_047277400.1:p.Leu477Pro, XP_047277379.1:p.Leu519Pro, XP_006716587.1:p.Leu478Pro, XP_047277399.1:p.Leu477Pro, XP_047277410.1:p.Leu453Pro, XP_047277385.1:p.Leu478Pro, XP_047277378.1:p.Leu519Pro

                                      19.

                                      rs1421647890 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        8:143586763 (GRCh38)
                                        8:144668933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:143586762:T:C
                                        Gene:
                                        EEF1D (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.143586763T>C, NC_000008.10:g.144668933T>C, NT_187571.1:g.76803T>C, NM_032378.7:c.1181A>G, NM_032378.6:c.1181A>G, NM_032378.5:c.1181A>G, NM_032378.4:c.1181A>G, NM_001960.7:c.83A>G, NM_001960.6:c.83A>G, NM_001960.5:c.83A>G, NM_001960.4:c.83A>G, XM_006716519.5:c.1301A>G, XM_006716519.4:c.1178A>G, XM_006716519.3:c.1301A>G, XM_006716519.2:c.1301A>G, XM_006716519.1:c.1301A>G, XM_006716520.5:c.1304A>G, XM_006716520.4:c.1181A>G, XM_006716520.3:c.1304A>G, XM_006716520.2:c.1304A>G, XM_006716520.1:c.1304A>G, NM_001130053.5:c.1181A>G, NM_001130053.4:c.1181A>G, NM_001130053.3:c.1181A>G, NM_001130053.2:c.1181A>G, NM_001130056.5:c.83A>G, NM_001130056.4:c.83A>G, NM_001130056.3:c.83A>G, NM_001130056.2:c.83A>G, NM_001130055.4:c.83A>G, NM_001130055.3:c.83A>G, NM_001130055.2:c.83A>G, NM_001289950.4:c.83A>G, NM_001289950.3:c.83A>G, NM_001289950.2:c.83A>G, NM_001289950.1:c.83A>G, NM_001195203.4:c.83A>G, NM_001195203.3:c.83A>G, NM_001195203.2:c.83A>G, NM_001195203.1:c.83A>G, NM_001317743.4:c.83A>G, NM_001317743.3:c.83A>G, NM_001317743.2:c.83A>G, NM_001317743.1:c.83A>G, NM_001130057.4:c.83A>G, NM_001130057.3:c.83A>G, NM_001130057.2:c.83A>G, XM_047421437.1:c.1181A>G, NM_001330646.3:c.83A>G, NM_001330646.2:c.83A>G, NM_001330646.1:c.83A>G, XM_006716522.2:c.1181A>G, XM_006716522.1:c.1181A>G, XM_024447088.2:c.1178A>G, XM_024447088.1:c.1178A>G, XM_006716525.2:c.83A>G, XM_006716525.1:c.83A>G, XM_006716524.2:c.1181A>G, XM_006716524.1:c.1181A>G, XM_047421426.1:c.1181A>G, XM_047421443.1:c.1178A>G, XM_047421447.1:c.1181A>G, XM_047421454.1:c.1178A>G, XM_047421420.1:c.1304A>G, XM_047421424.1:c.1301A>G, XM_047421428.1:c.1181A>G, XM_047421434.1:c.1181A>G, XM_047421429.1:c.1181A>G, XM_047421444.1:c.1178A>G, XM_047421452.1:c.1181A>G, XM_047421448.1:c.1181A>G, XM_047421427.1:c.1181A>G, XM_047421436.1:c.1181A>G, XM_047421438.1:c.1181A>G, XM_047421431.1:c.1181A>G, XM_047421449.1:c.1181A>G, XM_047421439.1:c.1181A>G, XM_047421440.1:c.1181A>G, XM_047421425.1:c.1184A>G, XM_047421453.1:c.1181A>G, XM_047421446.1:c.1184A>G, XM_047421430.1:c.1181A>G, XM_047421432.1:c.1181A>G, XM_047421421.1:c.1304A>G, XM_047421423.1:c.1304A>G, XM_047421433.1:c.1181A>G, XM_047421445.1:c.1178A>G, XM_047421451.1:c.1181A>G, XM_047421441.1:c.1181A>G, XM_005250823.1:c.1181A>G, XM_017013171.1:c.1178A>G, XM_047421455.1:c.1178A>G, XM_047421442.1:c.1181A>G, XM_047421422.1:c.1304A>G, XM_047421435.1:c.1181A>G, NM_001130054.1:c.1178A>G, XM_047421450.1:c.1181A>G, NP_115754.4:p.Gln394Arg, NP_001951.2:p.Gln28Arg, XP_006716582.3:p.Gln434Arg, XP_006716583.3:p.Gln435Arg, NP_001123525.3:p.Gln394Arg, NP_001123528.1:p.Gln28Arg, NP_001123527.1:p.Gln28Arg, NP_001276879.1:p.Gln28Arg, NP_001182132.1:p.Gln28Arg, NP_001304672.1:p.Gln28Arg, NP_001123529.1:p.Gln28Arg, XP_047277393.1:p.Gln394Arg, NP_001317575.1:p.Gln28Arg, XP_006716585.1:p.Gln394Arg, XP_024302856.1:p.Gln393Arg, XP_006716588.1:p.Gln28Arg, XP_006716587.1:p.Gln394Arg, XP_047277382.1:p.Gln394Arg, XP_047277399.1:p.Gln393Arg, XP_047277403.1:p.Gln394Arg, XP_047277410.1:p.Gln393Arg, XP_047277376.1:p.Gln435Arg, XP_047277380.1:p.Gln434Arg, XP_047277384.1:p.Gln394Arg, XP_047277390.1:p.Gln394Arg, XP_047277385.1:p.Gln394Arg, XP_047277400.1:p.Gln393Arg, XP_047277408.1:p.Gln394Arg, XP_047277404.1:p.Gln394Arg, XP_047277383.1:p.Gln394Arg, XP_047277392.1:p.Gln394Arg, XP_047277394.1:p.Gln394Arg, XP_047277387.1:p.Gln394Arg, XP_047277405.1:p.Gln394Arg, XP_047277395.1:p.Gln394Arg, XP_047277396.1:p.Gln394Arg, XP_047277381.1:p.Gln395Arg, XP_047277409.1:p.Gln394Arg, XP_047277402.1:p.Gln395Arg, XP_047277386.1:p.Gln394Arg, XP_047277388.1:p.Gln394Arg, XP_047277377.1:p.Gln435Arg, XP_047277379.1:p.Gln435Arg, XP_047277389.1:p.Gln394Arg, XP_047277401.1:p.Gln393Arg, XP_047277407.1:p.Gln394Arg, XP_047277397.1:p.Gln394Arg, XP_005250880.1:p.Gln394Arg, XP_016868660.1:p.Gln393Arg, XP_047277411.1:p.Gln393Arg, XP_047277398.1:p.Gln394Arg, XP_047277378.1:p.Gln435Arg, XP_047277391.1:p.Gln394Arg, XP_047277406.1:p.Gln394Arg

                                        20.

                                        rs1416874628 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          8:143581075 (GRCh38)
                                          8:144663245 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:143581074:C:A
                                          Gene:
                                          EEF1D (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.143581075C>A, NC_000008.10:g.144663245C>A, NT_187571.1:g.71115C>A, NM_032378.7:c.1467G>T, NM_032378.6:c.1467G>T, NM_032378.5:c.1467G>T, NM_032378.4:c.1467G>T, NM_001960.7:c.369G>T, NM_001960.6:c.369G>T, NM_001960.5:c.369G>T, NM_001960.4:c.369G>T, XM_006716519.5:c.1587G>T, XM_006716519.4:c.1464G>T, XM_006716519.3:c.1587G>T, XM_006716519.2:c.1587G>T, XM_006716519.1:c.1587G>T, XM_006716520.5:c.1518G>T, XM_006716520.4:c.1395G>T, XM_006716520.3:c.1518G>T, XM_006716520.2:c.1518G>T, XM_006716520.1:c.1518G>T, NM_001130053.5:c.1467G>T, NM_001130053.4:c.1467G>T, NM_001130053.3:c.1467G>T, NM_001130053.2:c.1467G>T, NM_001130056.5:c.297G>T, NM_001130056.4:c.297G>T, NM_001130056.3:c.297G>T, NM_001130056.2:c.297G>T, NM_001130055.4:c.369G>T, NM_001130055.3:c.369G>T, NM_001130055.2:c.369G>T, NM_001289950.4:c.369G>T, NM_001289950.3:c.369G>T, NM_001289950.2:c.369G>T, NM_001289950.1:c.369G>T, NM_001195203.4:c.312G>T, NM_001195203.3:c.312G>T, NM_001195203.2:c.312G>T, NM_001195203.1:c.312G>T, NM_001317743.4:c.297G>T, NM_001317743.3:c.297G>T, NM_001317743.2:c.297G>T, NM_001317743.1:c.297G>T, NM_001130057.4:c.369G>T, NM_001130057.3:c.369G>T, NM_001130057.2:c.369G>T, XM_047421437.1:c.1467G>T, XM_006716522.2:c.1467G>T, XM_006716522.1:c.1467G>T, XM_047421431.1:c.1467G>T, XM_047421433.1:c.1467G>T, XM_047421436.1:c.1467G>T, XM_047421455.1:c.1392G>T, NM_001330646.3:c.297G>T, NM_001330646.2:c.297G>T, NM_001330646.1:c.297G>T, XM_006716524.2:c.1467G>T, XM_006716524.1:c.1467G>T, XM_006716525.2:c.369G>T, XM_006716525.1:c.369G>T, XM_024447088.2:c.1464G>T, XM_024447088.1:c.1464G>T, XM_047421426.1:c.1467G>T, XM_047421454.1:c.1392G>T, XM_047421420.1:c.1590G>T, XM_047421424.1:c.1515G>T, XM_047421428.1:c.1467G>T, XM_047421452.1:c.1395G>T, XM_047421427.1:c.1467G>T, XM_047421438.1:c.1467G>T, XM_047421449.1:c.1395G>T, XM_047421439.1:c.1467G>T, XM_047421440.1:c.1467G>T, XM_047421425.1:c.1470G>T, XM_047421453.1:c.1395G>T, XM_047421446.1:c.1398G>T, XM_047421430.1:c.1467G>T, XM_047421432.1:c.1467G>T, XM_047421421.1:c.1590G>T, XM_047421423.1:c.1590G>T, XM_047421442.1:c.1467G>T, XM_047421445.1:c.1464G>T, NM_001130054.1:c.1464G>T, XM_047421441.1:c.1467G>T, XM_005250823.1:c.1467G>T, XM_017013171.1:c.1464G>T, XM_047421451.1:c.1395G>T, XM_047421443.1:c.1464G>T, XM_047421448.1:c.1395G>T, XM_047421447.1:c.1395G>T, XM_047421444.1:c.1464G>T, XM_047421429.1:c.1467G>T, XM_047421435.1:c.1467G>T, XM_047421450.1:c.1395G>T, XM_047421434.1:c.1467G>T, XM_047421422.1:c.1590G>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...