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Items: 1 to 20 of 905

3.

rs1488411925 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:101888808 (GRCh38)
    2:102505270 (GRCh37)
    Canonical SPDI:
    NC_000002.12:101888807:C:T
    Gene:
    MAP4K4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000028/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000002.12:g.101888808C>T, NC_000002.11:g.102505270C>T, NM_004834.5:c.3287C>T, NM_004834.4:c.3287C>T, NM_145686.4:c.3611C>T, NM_145686.3:c.3611C>T, NM_145687.4:c.3428C>T, NM_145687.3:c.3428C>T, NM_001242559.2:c.3509C>T, NM_001242559.1:c.3509C>T, NM_001242560.2:c.3497C>T, NM_001242560.1:c.3497C>T, NM_001395002.1:c.3944C>T, NM_001384497.1:c.3935C>T, NM_001384492.1:c.3848C>T, NM_001384493.1:c.3782C>T, NM_001384477.1:c.3776C>T, NM_001384506.1:c.3752C>T, NM_001384481.1:c.3728C>T, NM_001384486.1:c.3713C>T, NM_001384488.1:c.3710C>T, NM_001384548.1:c.3695C>T, NM_001384487.1:c.3680C>T, NM_001384509.1:c.3677C>T, NM_001384543.1:c.3659C>T, NM_001384520.1:c.3650C>T, NM_001384564.1:c.3815C>T, NM_001384485.1:c.3614C>T, NR_169280.1:n.3984C>T, NM_001384544.1:c.2867C>T, NM_001384484.1:c.3590C>T, NM_001384476.1:c.3587C>T, NM_001384508.1:c.3584C>T, NM_001384496.1:c.3566C>T, NM_001384555.1:c.3755C>T, NM_001384553.1:c.3749C>T, NM_001384563.1:c.3746C>T, NM_001384483.1:c.3539C>T, NR_169279.1:n.3909C>T, NM_001384489.1:c.2792C>T, NM_001384507.1:c.3521C>T, NM_001384491.1:c.3494C>T, NM_001384567.1:c.3662C>T, NM_001384495.1:c.3458C>T, NM_001384480.1:c.3458C>T, NR_169281.1:n.3792C>T, NM_001384545.1:c.2675C>T, NM_001384572.1:c.3563C>T, NM_001384552.1:c.3560C>T, NM_001384562.1:c.3557C>T, NM_001384490.1:c.3359C>T, NM_001384556.1:c.3554C>T, NM_001384494.1:c.3356C>T, NM_001384579.1:c.3494C>T, NM_001384554.1:c.3485C>T, NM_001384550.1:c.3476C>T, NM_001384558.1:c.3470C>T, NM_001384478.1:c.3266C>T, NM_001384482.1:c.3257C>T, NM_001384549.1:c.3431C>T, NM_001384559.1:c.3428C>T, NM_001384551.1:c.3401C>T, NM_001384557.1:c.3392C>T, NM_001384560.1:c.3323C>T, NM_001384561.1:c.3239C>T, NR_169282.1:n.3345C>T, NM_001384505.1:c.2228C>T, NP_004825.3:p.Ser1096Phe, NP_663719.2:p.Ser1204Phe, NP_663720.1:p.Ser1143Phe, NP_001229488.1:p.Ser1170Phe, NP_001229489.1:p.Ser1166Phe, NP_001381931.1:p.Ser1315Phe, NP_001371426.1:p.Ser1312Phe, NP_001371421.1:p.Ser1283Phe, NP_001371422.1:p.Ser1261Phe, NP_001371406.1:p.Ser1259Phe, NP_001371435.1:p.Ser1251Phe, NP_001371410.1:p.Ser1243Phe, NP_001371415.1:p.Ser1238Phe, NP_001371417.1:p.Ser1237Phe, NP_001371477.1:p.Ser1232Phe, NP_001371416.1:p.Ser1227Phe, NP_001371438.1:p.Ser1226Phe, NP_001371472.1:p.Ser1220Phe, NP_001371449.1:p.Ser1217Phe, NP_001371493.1:p.Ser1272Phe, NP_001371414.1:p.Ser1205Phe, NP_001371413.1:p.Ser1197Phe, NP_001371405.1:p.Ser1196Phe, NP_001371437.1:p.Ser1195Phe, NP_001371425.1:p.Ser1189Phe, NP_001371484.1:p.Ser1252Phe, NP_001371482.1:p.Ser1250Phe, NP_001371492.1:p.Ser1249Phe, NP_001371412.1:p.Ser1180Phe, NP_001371436.1:p.Ser1174Phe, NP_001371420.1:p.Ser1165Phe, NP_001371496.1:p.Ser1221Phe, NP_001371424.1:p.Ser1153Phe, NP_001371501.1:p.Ser1188Phe, NP_001371481.1:p.Ser1187Phe, NP_001371491.1:p.Ser1186Phe, NP_001371419.1:p.Ser1120Phe, NP_001371485.1:p.Ser1185Phe, NP_001371423.1:p.Ser1119Phe, NP_001371508.1:p.Ser1165Phe, NP_001371483.1:p.Ser1162Phe, NP_001371479.1:p.Ser1159Phe, NP_001371487.1:p.Ser1157Phe, NP_001371407.1:p.Ser1089Phe, NP_001371411.1:p.Ser1086Phe, NP_001371478.1:p.Ser1144Phe, NP_001371488.1:p.Ser1143Phe, NP_001371480.1:p.Ser1134Phe, NP_001371486.1:p.Ser1131Phe, NP_001371489.1:p.Ser1108Phe, NP_001371490.1:p.Ser1080Phe
    4.

    rs1487853051 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      2:101867250 (GRCh38)
      2:102483712 (GRCh37)
      Canonical SPDI:
      NC_000002.12:101867249:G:C
      Gene:
      MAP4K4 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.101867250G>C, NC_000002.11:g.102483712G>C, NM_004834.5:c.1906G>C, NM_004834.4:c.1906G>C, NM_145686.4:c.2071G>C, NM_145686.3:c.2071G>C, NM_145687.4:c.2071G>C, NM_145687.3:c.2071G>C, NM_001242559.2:c.2161G>C, NM_001242559.1:c.2161G>C, NM_001242560.2:c.2140G>C, NM_001242560.1:c.2140G>C, NM_001395002.1:c.2395G>C, NM_001384497.1:c.2395G>C, NM_001384492.1:c.2299G>C, NM_001384493.1:c.2233G>C, NM_001384477.1:c.2227G>C, NM_001384506.1:c.2395G>C, NM_001384481.1:c.2164G>C, NM_001384486.1:c.2164G>C, NM_001384488.1:c.2161G>C, NM_001384548.1:c.2146G>C, NM_001384487.1:c.2140G>C, NM_001384509.1:c.2137G>C, NM_001384543.1:c.2302G>C, NM_001384520.1:c.2302G>C, NM_001384564.1:c.2275G>C, NM_001384485.1:c.2233G>C, NR_169280.1:n.2435G>C, NM_001384544.1:c.1318G>C, NM_001384484.1:c.2233G>C, NM_001384476.1:c.2230G>C, NM_001384508.1:c.2227G>C, NM_001384496.1:c.2002G>C, NM_001384555.1:c.2206G>C, NM_001384553.1:c.2200G>C, NM_001384563.1:c.2197G>C, NM_001384483.1:c.1999G>C, NR_169279.1:n.2528G>C, NM_001384489.1:c.1411G>C, NM_001384507.1:c.2164G>C, NM_001384491.1:c.2137G>C, NM_001384567.1:c.2113G>C, NM_001384495.1:c.1909G>C, NM_001384480.1:c.1909G>C, NR_169281.1:n.2435G>C, NM_001384545.1:c.1318G>C, NM_001384572.1:c.2206G>C, NM_001384552.1:c.2203G>C, NM_001384562.1:c.2200G>C, NM_001384490.1:c.2002G>C, NM_001384556.1:c.2197G>C, NM_001384494.1:c.1999G>C, NM_001384579.1:c.2137G>C, NM_001384554.1:c.2113G>C, NM_001384550.1:c.2119G>C, NM_001384558.1:c.2113G>C, NM_001384478.1:c.1909G>C, NM_001384482.1:c.1909G>C, NM_001384549.1:c.1882G>C, NM_001384559.1:c.1879G>C, NM_001384551.1:c.2044G>C, NM_001384557.1:c.2044G>C, NM_001384560.1:c.1975G>C, NM_001384561.1:c.1882G>C, NR_169282.1:n.1988G>C, NM_001384505.1:c.871G>C, NP_004825.3:p.Glu636Gln, NP_663719.2:p.Glu691Gln, NP_663720.1:p.Glu691Gln, NP_001229488.1:p.Glu721Gln, NP_001229489.1:p.Glu714Gln, NP_001381931.1:p.Glu799Gln, NP_001371426.1:p.Glu799Gln, NP_001371421.1:p.Glu767Gln, NP_001371422.1:p.Glu745Gln, NP_001371406.1:p.Glu743Gln, NP_001371435.1:p.Glu799Gln, NP_001371410.1:p.Glu722Gln, NP_001371415.1:p.Glu722Gln, NP_001371417.1:p.Glu721Gln, NP_001371477.1:p.Glu716Gln, NP_001371416.1:p.Glu714Gln, NP_001371438.1:p.Glu713Gln, NP_001371472.1:p.Glu768Gln, NP_001371449.1:p.Glu768Gln, NP_001371493.1:p.Glu759Gln, NP_001371414.1:p.Glu745Gln, NP_001371413.1:p.Glu745Gln, NP_001371405.1:p.Glu744Gln, NP_001371437.1:p.Glu743Gln, NP_001371425.1:p.Glu668Gln, NP_001371484.1:p.Glu736Gln, NP_001371482.1:p.Glu734Gln, NP_001371492.1:p.Glu733Gln, NP_001371412.1:p.Glu667Gln, NP_001371436.1:p.Glu722Gln, NP_001371420.1:p.Glu713Gln, NP_001371496.1:p.Glu705Gln, NP_001371424.1:p.Glu637Gln, NP_001371501.1:p.Glu736Gln, NP_001371481.1:p.Glu735Gln, NP_001371491.1:p.Glu734Gln, NP_001371419.1:p.Glu668Gln, NP_001371485.1:p.Glu733Gln, NP_001371423.1:p.Glu667Gln, NP_001371508.1:p.Glu713Gln, NP_001371483.1:p.Glu705Gln, NP_001371479.1:p.Glu707Gln, NP_001371487.1:p.Glu705Gln, NP_001371407.1:p.Glu637Gln, NP_001371411.1:p.Glu637Gln, NP_001371478.1:p.Glu628Gln, NP_001371488.1:p.Glu627Gln, NP_001371480.1:p.Glu682Gln, NP_001371486.1:p.Glu682Gln, NP_001371489.1:p.Glu659Gln, NP_001371490.1:p.Glu628Gln
      5.

      rs1486695428 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:101856044 (GRCh38)
        2:102472506 (GRCh37)
        Canonical SPDI:
        NC_000002.12:101856043:A:G
        Gene:
        MAP4K4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000026/4 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.101856044A>G, NC_000002.11:g.102472506A>G, NM_004834.5:c.1301A>G, NM_004834.4:c.1301A>G, NM_145686.4:c.1301A>G, NM_145686.3:c.1301A>G, NM_145687.4:c.1301A>G, NM_145687.3:c.1301A>G, NM_001242559.2:c.1301A>G, NM_001242559.1:c.1301A>G, NM_001242560.2:c.1301A>G, NM_001242560.1:c.1301A>G, NM_001395002.1:c.1301A>G, NM_001384497.1:c.1301A>G, NM_001384492.1:c.1301A>G, NM_001384493.1:c.1301A>G, NM_001384477.1:c.1301A>G, NM_001384506.1:c.1301A>G, NM_001384481.1:c.1301A>G, NM_001384486.1:c.1301A>G, NM_001384488.1:c.1301A>G, NM_001384548.1:c.1301A>G, NM_001384487.1:c.1301A>G, NM_001384509.1:c.1301A>G, NM_001384543.1:c.1301A>G, NM_001384520.1:c.1301A>G, NM_001384564.1:c.1274A>G, NM_001384485.1:c.1301A>G, NR_169280.1:n.1596A>G, NM_001384544.1:c.479A>G, NM_001384484.1:c.1301A>G, NM_001384476.1:c.1301A>G, NM_001384508.1:c.1301A>G, NM_001384496.1:c.1301A>G, NM_001384555.1:c.1274A>G, NM_001384553.1:c.1274A>G, NM_001384563.1:c.1274A>G, NM_001384483.1:c.1301A>G, NR_169279.1:n.1596A>G, NM_001384489.1:c.479A>G, NM_001384507.1:c.1301A>G, NM_001384491.1:c.1301A>G, NM_001384567.1:c.1274A>G, NM_001384495.1:c.1301A>G, NM_001384480.1:c.1301A>G, NR_169281.1:n.1596A>G, NM_001384545.1:c.479A>G, NM_001384572.1:c.1274A>G, NM_001384552.1:c.1274A>G, NM_001384562.1:c.1274A>G, NM_001384490.1:c.1301A>G, NM_001384556.1:c.1274A>G, NM_001384494.1:c.1301A>G, NM_001384579.1:c.1274A>G, NM_001384554.1:c.1274A>G, NM_001384550.1:c.1274A>G, NM_001384558.1:c.1274A>G, NM_001384478.1:c.1301A>G, NM_001384482.1:c.1301A>G, NM_001384549.1:c.1274A>G, NM_001384559.1:c.1274A>G, NM_001384551.1:c.1274A>G, NM_001384557.1:c.1274A>G, NM_001384560.1:c.1274A>G, NM_001384561.1:c.1274A>G, NR_169282.1:n.1596A>G, NM_001384505.1:c.479A>G, NP_004825.3:p.Glu434Gly, NP_663719.2:p.Glu434Gly, NP_663720.1:p.Glu434Gly, NP_001229488.1:p.Glu434Gly, NP_001229489.1:p.Glu434Gly, NP_001381931.1:p.Glu434Gly, NP_001371426.1:p.Glu434Gly, NP_001371421.1:p.Glu434Gly, NP_001371422.1:p.Glu434Gly, NP_001371406.1:p.Glu434Gly, NP_001371435.1:p.Glu434Gly, NP_001371410.1:p.Glu434Gly, NP_001371415.1:p.Glu434Gly, NP_001371417.1:p.Glu434Gly, NP_001371477.1:p.Glu434Gly, NP_001371416.1:p.Glu434Gly, NP_001371438.1:p.Glu434Gly, NP_001371472.1:p.Glu434Gly, NP_001371449.1:p.Glu434Gly, NP_001371493.1:p.Glu425Gly, NP_001371414.1:p.Glu434Gly, NP_001371413.1:p.Glu434Gly, NP_001371405.1:p.Glu434Gly, NP_001371437.1:p.Glu434Gly, NP_001371425.1:p.Glu434Gly, NP_001371484.1:p.Glu425Gly, NP_001371482.1:p.Glu425Gly, NP_001371492.1:p.Glu425Gly, NP_001371412.1:p.Glu434Gly, NP_001371436.1:p.Glu434Gly, NP_001371420.1:p.Glu434Gly, NP_001371496.1:p.Glu425Gly, NP_001371424.1:p.Glu434Gly, NP_001371501.1:p.Glu425Gly, NP_001371481.1:p.Glu425Gly, NP_001371491.1:p.Glu425Gly, NP_001371419.1:p.Glu434Gly, NP_001371485.1:p.Glu425Gly, NP_001371423.1:p.Glu434Gly, NP_001371508.1:p.Glu425Gly, NP_001371483.1:p.Glu425Gly, NP_001371479.1:p.Glu425Gly, NP_001371487.1:p.Glu425Gly, NP_001371407.1:p.Glu434Gly, NP_001371411.1:p.Glu434Gly, NP_001371478.1:p.Glu425Gly, NP_001371488.1:p.Glu425Gly, NP_001371480.1:p.Glu425Gly, NP_001371486.1:p.Glu425Gly, NP_001371489.1:p.Glu425Gly, NP_001371490.1:p.Glu425Gly
        6.

        rs1485801274 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:101866537 (GRCh38)
          2:102482999 (GRCh37)
          Canonical SPDI:
          NC_000002.12:101866536:C:T
          Gene:
          MAP4K4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.101866537C>T, NC_000002.11:g.102482999C>T, NM_004834.5:c.1825C>T, NM_004834.4:c.1825C>T, NM_145686.4:c.1990C>T, NM_145686.3:c.1990C>T, NM_145687.4:c.1990C>T, NM_145687.3:c.1990C>T, NM_001242559.2:c.2080C>T, NM_001242559.1:c.2080C>T, NM_001242560.2:c.2059C>T, NM_001242560.1:c.2059C>T, NM_001395002.1:c.2314C>T, NM_001384497.1:c.2314C>T, NM_001384492.1:c.2218C>T, NM_001384493.1:c.2152C>T, NM_001384477.1:c.2146C>T, NM_001384506.1:c.2314C>T, NM_001384481.1:c.2083C>T, NM_001384486.1:c.2083C>T, NM_001384488.1:c.2080C>T, NM_001384548.1:c.2065C>T, NM_001384487.1:c.2059C>T, NM_001384509.1:c.2056C>T, NM_001384543.1:c.2221C>T, NM_001384520.1:c.2221C>T, NM_001384564.1:c.2194C>T, NM_001384485.1:c.2152C>T, NR_169280.1:n.2354C>T, NM_001384544.1:c.1237C>T, NM_001384484.1:c.2152C>T, NM_001384476.1:c.2149C>T, NM_001384508.1:c.2146C>T, NM_001384496.1:c.1921C>T, NM_001384555.1:c.2125C>T, NM_001384553.1:c.2119C>T, NM_001384563.1:c.2116C>T, NM_001384483.1:c.1918C>T, NR_169279.1:n.2447C>T, NM_001384489.1:c.1330C>T, NM_001384507.1:c.2083C>T, NM_001384491.1:c.2056C>T, NM_001384567.1:c.2032C>T, NM_001384495.1:c.1828C>T, NM_001384480.1:c.1828C>T, NR_169281.1:n.2354C>T, NM_001384545.1:c.1237C>T, NM_001384572.1:c.2125C>T, NM_001384552.1:c.2122C>T, NM_001384562.1:c.2119C>T, NM_001384490.1:c.1921C>T, NM_001384556.1:c.2116C>T, NM_001384494.1:c.1918C>T, NM_001384579.1:c.2056C>T, NM_001384554.1:c.2032C>T, NM_001384550.1:c.2038C>T, NM_001384558.1:c.2032C>T, NM_001384478.1:c.1828C>T, NM_001384482.1:c.1828C>T, NM_001384549.1:c.1801C>T, NM_001384559.1:c.1798C>T, NM_001384551.1:c.1963C>T, NM_001384557.1:c.1963C>T, NM_001384560.1:c.1894C>T, NM_001384561.1:c.1801C>T, NR_169282.1:n.1907C>T, NM_001384505.1:c.790C>T, NP_004825.3:p.Pro609Ser, NP_663719.2:p.Pro664Ser, NP_663720.1:p.Pro664Ser, NP_001229488.1:p.Pro694Ser, NP_001229489.1:p.Pro687Ser, NP_001381931.1:p.Pro772Ser, NP_001371426.1:p.Pro772Ser, NP_001371421.1:p.Pro740Ser, NP_001371422.1:p.Pro718Ser, NP_001371406.1:p.Pro716Ser, NP_001371435.1:p.Pro772Ser, NP_001371410.1:p.Pro695Ser, NP_001371415.1:p.Pro695Ser, NP_001371417.1:p.Pro694Ser, NP_001371477.1:p.Pro689Ser, NP_001371416.1:p.Pro687Ser, NP_001371438.1:p.Pro686Ser, NP_001371472.1:p.Pro741Ser, NP_001371449.1:p.Pro741Ser, NP_001371493.1:p.Pro732Ser, NP_001371414.1:p.Pro718Ser, NP_001371413.1:p.Pro718Ser, NP_001371405.1:p.Pro717Ser, NP_001371437.1:p.Pro716Ser, NP_001371425.1:p.Pro641Ser, NP_001371484.1:p.Pro709Ser, NP_001371482.1:p.Pro707Ser, NP_001371492.1:p.Pro706Ser, NP_001371412.1:p.Pro640Ser, NP_001371436.1:p.Pro695Ser, NP_001371420.1:p.Pro686Ser, NP_001371496.1:p.Pro678Ser, NP_001371424.1:p.Pro610Ser, NP_001371501.1:p.Pro709Ser, NP_001371481.1:p.Pro708Ser, NP_001371491.1:p.Pro707Ser, NP_001371419.1:p.Pro641Ser, NP_001371485.1:p.Pro706Ser, NP_001371423.1:p.Pro640Ser, NP_001371508.1:p.Pro686Ser, NP_001371483.1:p.Pro678Ser, NP_001371479.1:p.Pro680Ser, NP_001371487.1:p.Pro678Ser, NP_001371407.1:p.Pro610Ser, NP_001371411.1:p.Pro610Ser, NP_001371478.1:p.Pro601Ser, NP_001371488.1:p.Pro600Ser, NP_001371480.1:p.Pro655Ser, NP_001371486.1:p.Pro655Ser, NP_001371489.1:p.Pro632Ser, NP_001371490.1:p.Pro601Ser
          7.

          rs1485204400 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            2:101873654 (GRCh38)
            2:102490116 (GRCh37)
            Canonical SPDI:
            NC_000002.12:101873653:C:A
            Gene:
            MAP4K4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.101873654C>A, NC_000002.11:g.102490116C>A, NM_004834.5:c.2279C>A, NM_004834.4:c.2279C>A, NM_145686.4:c.2627C>A, NM_145686.3:c.2627C>A, NM_145687.4:c.2444C>A, NM_145687.3:c.2444C>A, NM_001242559.2:c.2525C>A, NM_001242559.1:c.2525C>A, NM_001242560.2:c.2513C>A, NM_001242560.1:c.2513C>A, NM_001395002.1:c.2960C>A, NM_001384497.1:c.2951C>A, NM_001384492.1:c.2864C>A, NM_001384493.1:c.2798C>A, NM_001384477.1:c.2792C>A, NM_001384506.1:c.2768C>A, NM_001384481.1:c.2720C>A, NM_001384486.1:c.2729C>A, NM_001384488.1:c.2726C>A, NM_001384548.1:c.2711C>A, NM_001384487.1:c.2696C>A, NM_001384509.1:c.2693C>A, NM_001384543.1:c.2675C>A, NM_001384520.1:c.2666C>A, NM_001384564.1:c.2831C>A, NM_001384485.1:c.2606C>A, NR_169280.1:n.3000C>A, NM_001384544.1:c.1883C>A, NM_001384484.1:c.2606C>A, NM_001384476.1:c.2603C>A, NM_001384508.1:c.2600C>A, NM_001384496.1:c.2558C>A, NM_001384555.1:c.2771C>A, NM_001384553.1:c.2765C>A, NM_001384563.1:c.2762C>A, NM_001384483.1:c.2555C>A, NR_169279.1:n.2901C>A, NM_001384489.1:c.1784C>A, NM_001384507.1:c.2537C>A, NM_001384491.1:c.2510C>A, NM_001384567.1:c.2678C>A, NM_001384495.1:c.2474C>A, NM_001384480.1:c.2474C>A, NR_169281.1:n.2808C>A, NM_001384545.1:c.1691C>A, NM_001384572.1:c.2579C>A, NM_001384552.1:c.2576C>A, NM_001384562.1:c.2573C>A, NM_001384490.1:c.2375C>A, NM_001384556.1:c.2570C>A, NM_001384494.1:c.2372C>A, NM_001384579.1:c.2510C>A, NM_001384554.1:c.2477C>A, NM_001384550.1:c.2492C>A, NM_001384558.1:c.2486C>A, NM_001384478.1:c.2282C>A, NM_001384482.1:c.2273C>A, NM_001384549.1:c.2447C>A, NM_001384559.1:c.2444C>A, NM_001384551.1:c.2417C>A, NM_001384557.1:c.2408C>A, NM_001384560.1:c.2339C>A, NM_001384561.1:c.2255C>A, NR_169282.1:n.2361C>A, NM_001384505.1:c.1244C>A, NP_004825.3:p.Ser760Tyr, NP_663719.2:p.Ser876Tyr, NP_663720.1:p.Ser815Tyr, NP_001229488.1:p.Ser842Tyr, NP_001229489.1:p.Ser838Tyr, NP_001381931.1:p.Ser987Tyr, NP_001371426.1:p.Ser984Tyr, NP_001371421.1:p.Ser955Tyr, NP_001371422.1:p.Ser933Tyr, NP_001371406.1:p.Ser931Tyr, NP_001371435.1:p.Ser923Tyr, NP_001371410.1:p.Ser907Tyr, NP_001371415.1:p.Ser910Tyr, NP_001371417.1:p.Ser909Tyr, NP_001371477.1:p.Ser904Tyr, NP_001371416.1:p.Ser899Tyr, NP_001371438.1:p.Ser898Tyr, NP_001371472.1:p.Ser892Tyr, NP_001371449.1:p.Ser889Tyr, NP_001371493.1:p.Ser944Tyr, NP_001371414.1:p.Ser869Tyr, NP_001371413.1:p.Ser869Tyr, NP_001371405.1:p.Ser868Tyr, NP_001371437.1:p.Ser867Tyr, NP_001371425.1:p.Ser853Tyr, NP_001371484.1:p.Ser924Tyr, NP_001371482.1:p.Ser922Tyr, NP_001371492.1:p.Ser921Tyr, NP_001371412.1:p.Ser852Tyr, NP_001371436.1:p.Ser846Tyr, NP_001371420.1:p.Ser837Tyr, NP_001371496.1:p.Ser893Tyr, NP_001371424.1:p.Ser825Tyr, NP_001371501.1:p.Ser860Tyr, NP_001371481.1:p.Ser859Tyr, NP_001371491.1:p.Ser858Tyr, NP_001371419.1:p.Ser792Tyr, NP_001371485.1:p.Ser857Tyr, NP_001371423.1:p.Ser791Tyr, NP_001371508.1:p.Ser837Tyr, NP_001371483.1:p.Ser826Tyr, NP_001371479.1:p.Ser831Tyr, NP_001371487.1:p.Ser829Tyr, NP_001371407.1:p.Ser761Tyr, NP_001371411.1:p.Ser758Tyr, NP_001371478.1:p.Ser816Tyr, NP_001371488.1:p.Ser815Tyr, NP_001371480.1:p.Ser806Tyr, NP_001371486.1:p.Ser803Tyr, NP_001371489.1:p.Ser780Tyr, NP_001371490.1:p.Ser752Tyr
            8.

            rs1483701575 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              2:101887807 (GRCh38)
              2:102504269 (GRCh37)
              Canonical SPDI:
              NC_000002.12:101887806:C:A
              Gene:
              MAP4K4 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000111/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.101887807C>A, NC_000002.11:g.102504269C>A, NM_004834.5:c.3144C>A, NM_004834.4:c.3144C>A, NM_145686.4:c.3468C>A, NM_145686.3:c.3468C>A, NM_145687.4:c.3285C>A, NM_145687.3:c.3285C>A, NM_001242559.2:c.3366C>A, NM_001242559.1:c.3366C>A, NM_001242560.2:c.3354C>A, NM_001242560.1:c.3354C>A, NM_001395002.1:c.3801C>A, NM_001384497.1:c.3792C>A, NM_001384492.1:c.3705C>A, NM_001384493.1:c.3639C>A, NM_001384477.1:c.3633C>A, NM_001384506.1:c.3609C>A, NM_001384481.1:c.3585C>A, NM_001384486.1:c.3570C>A, NM_001384488.1:c.3567C>A, NM_001384548.1:c.3552C>A, NM_001384487.1:c.3537C>A, NM_001384509.1:c.3534C>A, NM_001384543.1:c.3516C>A, NM_001384520.1:c.3507C>A, NM_001384564.1:c.3672C>A, NM_001384485.1:c.3471C>A, NR_169280.1:n.3841C>A, NM_001384544.1:c.2724C>A, NM_001384484.1:c.3447C>A, NM_001384476.1:c.3444C>A, NM_001384508.1:c.3441C>A, NM_001384496.1:c.3423C>A, NM_001384555.1:c.3612C>A, NM_001384553.1:c.3606C>A, NM_001384563.1:c.3603C>A, NM_001384483.1:c.3396C>A, NR_169279.1:n.3766C>A, NM_001384489.1:c.2649C>A, NM_001384507.1:c.3378C>A, NM_001384491.1:c.3351C>A, NM_001384567.1:c.3519C>A, NM_001384495.1:c.3315C>A, NM_001384480.1:c.3315C>A, NR_169281.1:n.3649C>A, NM_001384545.1:c.2532C>A, NM_001384572.1:c.3420C>A, NM_001384552.1:c.3417C>A, NM_001384562.1:c.3414C>A, NM_001384490.1:c.3216C>A, NM_001384556.1:c.3411C>A, NM_001384494.1:c.3213C>A, NM_001384579.1:c.3351C>A, NM_001384554.1:c.3342C>A, NM_001384550.1:c.3333C>A, NM_001384558.1:c.3327C>A, NM_001384478.1:c.3123C>A, NM_001384482.1:c.3114C>A, NM_001384549.1:c.3288C>A, NM_001384559.1:c.3285C>A, NM_001384551.1:c.3258C>A, NM_001384557.1:c.3249C>A, NM_001384560.1:c.3180C>A, NM_001384561.1:c.3096C>A, NR_169282.1:n.3202C>A, NM_001384505.1:c.2085C>A
              9.

              rs1482809315 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:101824039 (GRCh38)
                2:102440501 (GRCh37)
                Canonical SPDI:
                NC_000002.12:101824038:G:A
                Gene:
                MAP4K4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.101824039G>A, NC_000002.11:g.102440501G>A, NM_004834.5:c.292G>A, NM_004834.4:c.292G>A, NM_145686.4:c.292G>A, NM_145686.3:c.292G>A, NM_145687.4:c.292G>A, NM_145687.3:c.292G>A, NM_001242559.2:c.292G>A, NM_001242559.1:c.292G>A, NM_001242560.2:c.292G>A, NM_001242560.1:c.292G>A, NM_001395002.1:c.292G>A, NM_001384497.1:c.292G>A, NM_001384492.1:c.292G>A, NM_001384493.1:c.292G>A, NM_001384477.1:c.292G>A, NM_001384506.1:c.292G>A, NM_001384481.1:c.292G>A, NM_001384486.1:c.292G>A, NM_001384488.1:c.292G>A, NM_001384548.1:c.292G>A, NM_001384487.1:c.292G>A, NM_001384509.1:c.292G>A, NM_001384543.1:c.292G>A, NM_001384520.1:c.292G>A, NM_001384564.1:c.265G>A, NM_001384485.1:c.292G>A, NR_169280.1:n.666G>A, NM_001384544.1:c.-452G>A, NM_001384484.1:c.292G>A, NM_001384476.1:c.292G>A, NM_001384508.1:c.292G>A, NM_001384496.1:c.292G>A, NM_001384555.1:c.265G>A, NM_001384553.1:c.265G>A, NM_001384563.1:c.265G>A, NM_001384483.1:c.292G>A, NR_169279.1:n.666G>A, NM_001384489.1:c.-452G>A, NM_001384507.1:c.292G>A, NM_001384491.1:c.292G>A, NM_001384567.1:c.265G>A, NM_001384495.1:c.292G>A, NM_001384480.1:c.292G>A, NR_169281.1:n.666G>A, NM_001384545.1:c.-452G>A, NM_001384572.1:c.265G>A, NM_001384552.1:c.265G>A, NM_001384562.1:c.265G>A, NM_001384490.1:c.292G>A, NM_001384556.1:c.265G>A, NM_001384494.1:c.292G>A, NM_001384579.1:c.265G>A, NM_001384554.1:c.265G>A, NM_001384550.1:c.265G>A, NM_001384558.1:c.265G>A, NM_001384478.1:c.292G>A, NM_001384482.1:c.292G>A, NM_001384549.1:c.265G>A, NM_001384559.1:c.265G>A, NM_001384551.1:c.265G>A, NM_001384557.1:c.265G>A, NM_001384560.1:c.265G>A, NM_001384561.1:c.265G>A, NR_169282.1:n.666G>A, NM_001384505.1:c.-452G>A, NP_004825.3:p.Asp98Asn, NP_663719.2:p.Asp98Asn, NP_663720.1:p.Asp98Asn, NP_001229488.1:p.Asp98Asn, NP_001229489.1:p.Asp98Asn, NP_001381931.1:p.Asp98Asn, NP_001371426.1:p.Asp98Asn, NP_001371421.1:p.Asp98Asn, NP_001371422.1:p.Asp98Asn, NP_001371406.1:p.Asp98Asn, NP_001371435.1:p.Asp98Asn, NP_001371410.1:p.Asp98Asn, NP_001371415.1:p.Asp98Asn, NP_001371417.1:p.Asp98Asn, NP_001371477.1:p.Asp98Asn, NP_001371416.1:p.Asp98Asn, NP_001371438.1:p.Asp98Asn, NP_001371472.1:p.Asp98Asn, NP_001371449.1:p.Asp98Asn, NP_001371493.1:p.Asp89Asn, NP_001371414.1:p.Asp98Asn, NP_001371413.1:p.Asp98Asn, NP_001371405.1:p.Asp98Asn, NP_001371437.1:p.Asp98Asn, NP_001371425.1:p.Asp98Asn, NP_001371484.1:p.Asp89Asn, NP_001371482.1:p.Asp89Asn, NP_001371492.1:p.Asp89Asn, NP_001371412.1:p.Asp98Asn, NP_001371436.1:p.Asp98Asn, NP_001371420.1:p.Asp98Asn, NP_001371496.1:p.Asp89Asn, NP_001371424.1:p.Asp98Asn, NP_001371501.1:p.Asp89Asn, NP_001371481.1:p.Asp89Asn, NP_001371491.1:p.Asp89Asn, NP_001371419.1:p.Asp98Asn, NP_001371485.1:p.Asp89Asn, NP_001371423.1:p.Asp98Asn, NP_001371508.1:p.Asp89Asn, NP_001371483.1:p.Asp89Asn, NP_001371479.1:p.Asp89Asn, NP_001371487.1:p.Asp89Asn, NP_001371407.1:p.Asp98Asn, NP_001371411.1:p.Asp98Asn, NP_001371478.1:p.Asp89Asn, NP_001371488.1:p.Asp89Asn, NP_001371480.1:p.Asp89Asn, NP_001371486.1:p.Asp89Asn, NP_001371489.1:p.Asp89Asn, NP_001371490.1:p.Asp89Asn
                10.

                rs1481320111 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:101867231 (GRCh38)
                  2:102483693 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:101867230:C:T
                  Gene:
                  MAP4K4 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.00007/1 (ALFA)
                  HGVS:
                  NC_000002.12:g.101867231C>T, NC_000002.11:g.102483693C>T, NM_004834.5:c.1887C>T, NM_004834.4:c.1887C>T, NM_145686.4:c.2052C>T, NM_145686.3:c.2052C>T, NM_145687.4:c.2052C>T, NM_145687.3:c.2052C>T, NM_001242559.2:c.2142C>T, NM_001242559.1:c.2142C>T, NM_001242560.2:c.2121C>T, NM_001242560.1:c.2121C>T, NM_001395002.1:c.2376C>T, NM_001384497.1:c.2376C>T, NM_001384492.1:c.2280C>T, NM_001384493.1:c.2214C>T, NM_001384477.1:c.2208C>T, NM_001384506.1:c.2376C>T, NM_001384481.1:c.2145C>T, NM_001384486.1:c.2145C>T, NM_001384488.1:c.2142C>T, NM_001384548.1:c.2127C>T, NM_001384487.1:c.2121C>T, NM_001384509.1:c.2118C>T, NM_001384543.1:c.2283C>T, NM_001384520.1:c.2283C>T, NM_001384564.1:c.2256C>T, NM_001384485.1:c.2214C>T, NR_169280.1:n.2416C>T, NM_001384544.1:c.1299C>T, NM_001384484.1:c.2214C>T, NM_001384476.1:c.2211C>T, NM_001384508.1:c.2208C>T, NM_001384496.1:c.1983C>T, NM_001384555.1:c.2187C>T, NM_001384553.1:c.2181C>T, NM_001384563.1:c.2178C>T, NM_001384483.1:c.1980C>T, NR_169279.1:n.2509C>T, NM_001384489.1:c.1392C>T, NM_001384507.1:c.2145C>T, NM_001384491.1:c.2118C>T, NM_001384567.1:c.2094C>T, NM_001384495.1:c.1890C>T, NM_001384480.1:c.1890C>T, NR_169281.1:n.2416C>T, NM_001384545.1:c.1299C>T, NM_001384572.1:c.2187C>T, NM_001384552.1:c.2184C>T, NM_001384562.1:c.2181C>T, NM_001384490.1:c.1983C>T, NM_001384556.1:c.2178C>T, NM_001384494.1:c.1980C>T, NM_001384579.1:c.2118C>T, NM_001384554.1:c.2094C>T, NM_001384550.1:c.2100C>T, NM_001384558.1:c.2094C>T, NM_001384478.1:c.1890C>T, NM_001384482.1:c.1890C>T, NM_001384549.1:c.1863C>T, NM_001384559.1:c.1860C>T, NM_001384551.1:c.2025C>T, NM_001384557.1:c.2025C>T, NM_001384560.1:c.1956C>T, NM_001384561.1:c.1863C>T, NR_169282.1:n.1969C>T, NM_001384505.1:c.852C>T
                  11.

                  rs1480282028 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    2:101871594 (GRCh38)
                    2:102488056 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:101871593:C:G
                    Gene:
                    MAP4K4 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.101871594C>G, NC_000002.11:g.102488056C>G, NM_145686.4:c.2528C>G, NM_145686.3:c.2528C>G, NM_001395002.1:c.2861C>G, NM_001384497.1:c.2852C>G, NM_001384492.1:c.2765C>G, NM_001384493.1:c.2699C>G, NM_001384477.1:c.2693C>G, NM_001384481.1:c.2621C>G, NM_001384486.1:c.2630C>G, NM_001384488.1:c.2627C>G, NM_001384548.1:c.2612C>G, NM_001384487.1:c.2597C>G, NM_001384509.1:c.2594C>G, NM_001384564.1:c.2732C>G, NR_169280.1:n.2901C>G, NM_001384544.1:c.1784C>G, NM_001384496.1:c.2459C>G, NM_001384555.1:c.2672C>G, NM_001384553.1:c.2666C>G, NM_001384563.1:c.2663C>G, NM_001384483.1:c.2456C>G, NM_001384567.1:c.2579C>G, NM_001384495.1:c.2375C>G, NM_001384480.1:c.2375C>G, NM_001384549.1:c.2348C>G, NM_001384559.1:c.2345C>G, NP_663719.2:p.Ser843Cys, NP_001381931.1:p.Ser954Cys, NP_001371426.1:p.Ser951Cys, NP_001371421.1:p.Ser922Cys, NP_001371422.1:p.Ser900Cys, NP_001371406.1:p.Ser898Cys, NP_001371410.1:p.Ser874Cys, NP_001371415.1:p.Ser877Cys, NP_001371417.1:p.Ser876Cys, NP_001371477.1:p.Ser871Cys, NP_001371416.1:p.Ser866Cys, NP_001371438.1:p.Ser865Cys, NP_001371493.1:p.Ser911Cys, NP_001371425.1:p.Ser820Cys, NP_001371484.1:p.Ser891Cys, NP_001371482.1:p.Ser889Cys, NP_001371492.1:p.Ser888Cys, NP_001371412.1:p.Ser819Cys, NP_001371496.1:p.Ser860Cys, NP_001371424.1:p.Ser792Cys, NP_001371478.1:p.Ser783Cys, NP_001371488.1:p.Ser782Cys
                    13.

                    rs1475790732 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      2:101844199 (GRCh38)
                      2:102460661 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:101844198:A:C,NC_000002.12:101844198:A:G
                      Gene:
                      MAP4K4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.101844199A>C, NC_000002.12:g.101844199A>G, NC_000002.11:g.102460661A>C, NC_000002.11:g.102460661A>G, NM_004834.5:c.1121A>C, NM_004834.5:c.1121A>G, NM_004834.4:c.1121A>C, NM_004834.4:c.1121A>G, NM_145686.4:c.1121A>C, NM_145686.4:c.1121A>G, NM_145686.3:c.1121A>C, NM_145686.3:c.1121A>G, NM_145687.4:c.1121A>C, NM_145687.4:c.1121A>G, NM_145687.3:c.1121A>C, NM_145687.3:c.1121A>G, NM_001242559.2:c.1121A>C, NM_001242559.2:c.1121A>G, NM_001242559.1:c.1121A>C, NM_001242559.1:c.1121A>G, NM_001242560.2:c.1121A>C, NM_001242560.2:c.1121A>G, NM_001242560.1:c.1121A>C, NM_001242560.1:c.1121A>G, NM_001395002.1:c.1121A>C, NM_001395002.1:c.1121A>G, NM_001384497.1:c.1121A>C, NM_001384497.1:c.1121A>G, NM_001384492.1:c.1121A>C, NM_001384492.1:c.1121A>G, NM_001384493.1:c.1121A>C, NM_001384493.1:c.1121A>G, NM_001384477.1:c.1121A>C, NM_001384477.1:c.1121A>G, NM_001384506.1:c.1121A>C, NM_001384506.1:c.1121A>G, NM_001384481.1:c.1121A>C, NM_001384481.1:c.1121A>G, NM_001384486.1:c.1121A>C, NM_001384486.1:c.1121A>G, NM_001384488.1:c.1121A>C, NM_001384488.1:c.1121A>G, NM_001384548.1:c.1121A>C, NM_001384548.1:c.1121A>G, NM_001384487.1:c.1121A>C, NM_001384487.1:c.1121A>G, NM_001384509.1:c.1121A>C, NM_001384509.1:c.1121A>G, NM_001384543.1:c.1121A>C, NM_001384543.1:c.1121A>G, NM_001384520.1:c.1121A>C, NM_001384520.1:c.1121A>G, NM_001384564.1:c.1094A>C, NM_001384564.1:c.1094A>G, NM_001384485.1:c.1121A>C, NM_001384485.1:c.1121A>G, NR_169280.1:n.1416A>C, NR_169280.1:n.1416A>G, NM_001384544.1:c.299A>C, NM_001384544.1:c.299A>G, NM_001384484.1:c.1121A>C, NM_001384484.1:c.1121A>G, NM_001384476.1:c.1121A>C, NM_001384476.1:c.1121A>G, NM_001384508.1:c.1121A>C, NM_001384508.1:c.1121A>G, NM_001384496.1:c.1121A>C, NM_001384496.1:c.1121A>G, NM_001384555.1:c.1094A>C, NM_001384555.1:c.1094A>G, NM_001384553.1:c.1094A>C, NM_001384553.1:c.1094A>G, NM_001384563.1:c.1094A>C, NM_001384563.1:c.1094A>G, NM_001384483.1:c.1121A>C, NM_001384483.1:c.1121A>G, NR_169279.1:n.1416A>C, NR_169279.1:n.1416A>G, NM_001384489.1:c.299A>C, NM_001384489.1:c.299A>G, NM_001384507.1:c.1121A>C, NM_001384507.1:c.1121A>G, NM_001384491.1:c.1121A>C, NM_001384491.1:c.1121A>G, NM_001384567.1:c.1094A>C, NM_001384567.1:c.1094A>G, NM_001384495.1:c.1121A>C, NM_001384495.1:c.1121A>G, NM_001384480.1:c.1121A>C, NM_001384480.1:c.1121A>G, NR_169281.1:n.1416A>C, NR_169281.1:n.1416A>G, NM_001384545.1:c.299A>C, NM_001384545.1:c.299A>G, NM_001384572.1:c.1094A>C, NM_001384572.1:c.1094A>G, NM_001384552.1:c.1094A>C, NM_001384552.1:c.1094A>G, NM_001384562.1:c.1094A>C, NM_001384562.1:c.1094A>G, NM_001384490.1:c.1121A>C, NM_001384490.1:c.1121A>G, NM_001384556.1:c.1094A>C, NM_001384556.1:c.1094A>G, NM_001384494.1:c.1121A>C, NM_001384494.1:c.1121A>G, NM_001384579.1:c.1094A>C, NM_001384579.1:c.1094A>G, NM_001384554.1:c.1094A>C, NM_001384554.1:c.1094A>G, NM_001384550.1:c.1094A>C, NM_001384550.1:c.1094A>G, NM_001384558.1:c.1094A>C, NM_001384558.1:c.1094A>G, NM_001384478.1:c.1121A>C, NM_001384478.1:c.1121A>G, NM_001384482.1:c.1121A>C, NM_001384482.1:c.1121A>G, NM_001384549.1:c.1094A>C, NM_001384549.1:c.1094A>G, NM_001384559.1:c.1094A>C, NM_001384559.1:c.1094A>G, NM_001384551.1:c.1094A>C, NM_001384551.1:c.1094A>G, NM_001384557.1:c.1094A>C, NM_001384557.1:c.1094A>G, NM_001384560.1:c.1094A>C, NM_001384560.1:c.1094A>G, NM_001384561.1:c.1094A>C, NM_001384561.1:c.1094A>G, NR_169282.1:n.1416A>C, NR_169282.1:n.1416A>G, NM_001384505.1:c.299A>C, NM_001384505.1:c.299A>G, NP_004825.3:p.Gln374Pro, NP_004825.3:p.Gln374Arg, NP_663719.2:p.Gln374Pro, NP_663719.2:p.Gln374Arg, NP_663720.1:p.Gln374Pro, NP_663720.1:p.Gln374Arg, NP_001229488.1:p.Gln374Pro, NP_001229488.1:p.Gln374Arg, NP_001229489.1:p.Gln374Pro, NP_001229489.1:p.Gln374Arg, NP_001381931.1:p.Gln374Pro, NP_001381931.1:p.Gln374Arg, NP_001371426.1:p.Gln374Pro, NP_001371426.1:p.Gln374Arg, NP_001371421.1:p.Gln374Pro, NP_001371421.1:p.Gln374Arg, NP_001371422.1:p.Gln374Pro, NP_001371422.1:p.Gln374Arg, NP_001371406.1:p.Gln374Pro, NP_001371406.1:p.Gln374Arg, NP_001371435.1:p.Gln374Pro, NP_001371435.1:p.Gln374Arg, NP_001371410.1:p.Gln374Pro, NP_001371410.1:p.Gln374Arg, NP_001371415.1:p.Gln374Pro, NP_001371415.1:p.Gln374Arg, NP_001371417.1:p.Gln374Pro, NP_001371417.1:p.Gln374Arg, NP_001371477.1:p.Gln374Pro, NP_001371477.1:p.Gln374Arg, NP_001371416.1:p.Gln374Pro, NP_001371416.1:p.Gln374Arg, NP_001371438.1:p.Gln374Pro, NP_001371438.1:p.Gln374Arg, NP_001371472.1:p.Gln374Pro, NP_001371472.1:p.Gln374Arg, NP_001371449.1:p.Gln374Pro, NP_001371449.1:p.Gln374Arg, NP_001371493.1:p.Gln365Pro, NP_001371493.1:p.Gln365Arg, NP_001371414.1:p.Gln374Pro, NP_001371414.1:p.Gln374Arg, NP_001371413.1:p.Gln374Pro, NP_001371413.1:p.Gln374Arg, NP_001371405.1:p.Gln374Pro, NP_001371405.1:p.Gln374Arg, NP_001371437.1:p.Gln374Pro, NP_001371437.1:p.Gln374Arg, NP_001371425.1:p.Gln374Pro, NP_001371425.1:p.Gln374Arg, NP_001371484.1:p.Gln365Pro, NP_001371484.1:p.Gln365Arg, NP_001371482.1:p.Gln365Pro, NP_001371482.1:p.Gln365Arg, NP_001371492.1:p.Gln365Pro, NP_001371492.1:p.Gln365Arg, NP_001371412.1:p.Gln374Pro, NP_001371412.1:p.Gln374Arg, NP_001371436.1:p.Gln374Pro, NP_001371436.1:p.Gln374Arg, NP_001371420.1:p.Gln374Pro, NP_001371420.1:p.Gln374Arg, NP_001371496.1:p.Gln365Pro, NP_001371496.1:p.Gln365Arg, NP_001371424.1:p.Gln374Pro, NP_001371424.1:p.Gln374Arg, NP_001371501.1:p.Gln365Pro, NP_001371501.1:p.Gln365Arg, NP_001371481.1:p.Gln365Pro, NP_001371481.1:p.Gln365Arg, NP_001371491.1:p.Gln365Pro, NP_001371491.1:p.Gln365Arg, NP_001371419.1:p.Gln374Pro, NP_001371419.1:p.Gln374Arg, NP_001371485.1:p.Gln365Pro, NP_001371485.1:p.Gln365Arg, NP_001371423.1:p.Gln374Pro, NP_001371423.1:p.Gln374Arg, NP_001371508.1:p.Gln365Pro, NP_001371508.1:p.Gln365Arg, NP_001371483.1:p.Gln365Pro, NP_001371483.1:p.Gln365Arg, NP_001371479.1:p.Gln365Pro, NP_001371479.1:p.Gln365Arg, NP_001371487.1:p.Gln365Pro, NP_001371487.1:p.Gln365Arg, NP_001371407.1:p.Gln374Pro, NP_001371407.1:p.Gln374Arg, NP_001371411.1:p.Gln374Pro, NP_001371411.1:p.Gln374Arg, NP_001371478.1:p.Gln365Pro, NP_001371478.1:p.Gln365Arg, NP_001371488.1:p.Gln365Pro, NP_001371488.1:p.Gln365Arg, NP_001371480.1:p.Gln365Pro, NP_001371480.1:p.Gln365Arg, NP_001371486.1:p.Gln365Pro, NP_001371486.1:p.Gln365Arg, NP_001371489.1:p.Gln365Pro, NP_001371489.1:p.Gln365Arg, NP_001371490.1:p.Gln365Pro, NP_001371490.1:p.Gln365Arg
                      14.

                      rs1473822922 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        2:101831848 (GRCh38)
                        2:102448310 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:101831847:C:G
                        Gene:
                        MAP4K4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.101831848C>G, NC_000002.11:g.102448310C>G, NM_004834.5:c.636C>G, NM_004834.4:c.636C>G, NM_145686.4:c.636C>G, NM_145686.3:c.636C>G, NM_145687.4:c.636C>G, NM_145687.3:c.636C>G, NM_001242559.2:c.636C>G, NM_001242559.1:c.636C>G, NM_001242560.2:c.636C>G, NM_001242560.1:c.636C>G, NM_001395002.1:c.636C>G, NM_001384497.1:c.636C>G, NM_001384492.1:c.636C>G, NM_001384493.1:c.636C>G, NM_001384477.1:c.636C>G, NM_001384506.1:c.636C>G, NM_001384481.1:c.636C>G, NM_001384486.1:c.636C>G, NM_001384488.1:c.636C>G, NM_001384548.1:c.636C>G, NM_001384487.1:c.636C>G, NM_001384509.1:c.636C>G, NM_001384543.1:c.636C>G, NM_001384520.1:c.636C>G, NM_001384564.1:c.609C>G, NM_001384485.1:c.636C>G, NR_169280.1:n.1010C>G, NM_001384544.1:c.-108C>G, NM_001384484.1:c.636C>G, NM_001384476.1:c.636C>G, NM_001384508.1:c.636C>G, NM_001384496.1:c.636C>G, NM_001384555.1:c.609C>G, NM_001384553.1:c.609C>G, NM_001384563.1:c.609C>G, NM_001384483.1:c.636C>G, NR_169279.1:n.1010C>G, NM_001384489.1:c.-108C>G, NM_001384507.1:c.636C>G, NM_001384491.1:c.636C>G, NM_001384567.1:c.609C>G, NM_001384495.1:c.636C>G, NM_001384480.1:c.636C>G, NR_169281.1:n.1010C>G, NM_001384545.1:c.-108C>G, NM_001384572.1:c.609C>G, NM_001384552.1:c.609C>G, NM_001384562.1:c.609C>G, NM_001384490.1:c.636C>G, NM_001384556.1:c.609C>G, NM_001384494.1:c.636C>G, NM_001384579.1:c.609C>G, NM_001384554.1:c.609C>G, NM_001384550.1:c.609C>G, NM_001384558.1:c.609C>G, NM_001384478.1:c.636C>G, NM_001384482.1:c.636C>G, NM_001384549.1:c.609C>G, NM_001384559.1:c.609C>G, NM_001384551.1:c.609C>G, NM_001384557.1:c.609C>G, NM_001384560.1:c.609C>G, NM_001384561.1:c.609C>G, NR_169282.1:n.1010C>G, NM_001384505.1:c.-108C>G, NP_004825.3:p.Tyr212Ter, NP_663719.2:p.Tyr212Ter, NP_663720.1:p.Tyr212Ter, NP_001229488.1:p.Tyr212Ter, NP_001229489.1:p.Tyr212Ter, NP_001381931.1:p.Tyr212Ter, NP_001371426.1:p.Tyr212Ter, NP_001371421.1:p.Tyr212Ter, NP_001371422.1:p.Tyr212Ter, NP_001371406.1:p.Tyr212Ter, NP_001371435.1:p.Tyr212Ter, NP_001371410.1:p.Tyr212Ter, NP_001371415.1:p.Tyr212Ter, NP_001371417.1:p.Tyr212Ter, NP_001371477.1:p.Tyr212Ter, NP_001371416.1:p.Tyr212Ter, NP_001371438.1:p.Tyr212Ter, NP_001371472.1:p.Tyr212Ter, NP_001371449.1:p.Tyr212Ter, NP_001371493.1:p.Tyr203Ter, NP_001371414.1:p.Tyr212Ter, NP_001371413.1:p.Tyr212Ter, NP_001371405.1:p.Tyr212Ter, NP_001371437.1:p.Tyr212Ter, NP_001371425.1:p.Tyr212Ter, NP_001371484.1:p.Tyr203Ter, NP_001371482.1:p.Tyr203Ter, NP_001371492.1:p.Tyr203Ter, NP_001371412.1:p.Tyr212Ter, NP_001371436.1:p.Tyr212Ter, NP_001371420.1:p.Tyr212Ter, NP_001371496.1:p.Tyr203Ter, NP_001371424.1:p.Tyr212Ter, NP_001371501.1:p.Tyr203Ter, NP_001371481.1:p.Tyr203Ter, NP_001371491.1:p.Tyr203Ter, NP_001371419.1:p.Tyr212Ter, NP_001371485.1:p.Tyr203Ter, NP_001371423.1:p.Tyr212Ter, NP_001371508.1:p.Tyr203Ter, NP_001371483.1:p.Tyr203Ter, NP_001371479.1:p.Tyr203Ter, NP_001371487.1:p.Tyr203Ter, NP_001371407.1:p.Tyr212Ter, NP_001371411.1:p.Tyr212Ter, NP_001371478.1:p.Tyr203Ter, NP_001371488.1:p.Tyr203Ter, NP_001371480.1:p.Tyr203Ter, NP_001371486.1:p.Tyr203Ter, NP_001371489.1:p.Tyr203Ter, NP_001371490.1:p.Tyr203Ter
                        15.

                        rs1473508873 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:101885257 (GRCh38)
                          2:102501719 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:101885256:A:G
                          Gene:
                          MAP4K4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000002.12:g.101885257A>G, NC_000002.11:g.102501719A>G, NM_004834.5:c.2910A>G, NM_004834.4:c.2910A>G, NM_145686.4:c.3258A>G, NM_145686.3:c.3258A>G, NM_145687.4:c.3075A>G, NM_145687.3:c.3075A>G, NM_001242559.2:c.3156A>G, NM_001242559.1:c.3156A>G, NM_001242560.2:c.3144A>G, NM_001242560.1:c.3144A>G, NM_001395002.1:c.3591A>G, NM_001384497.1:c.3582A>G, NM_001384492.1:c.3495A>G, NM_001384493.1:c.3429A>G, NM_001384477.1:c.3423A>G, NM_001384506.1:c.3399A>G, NM_001384481.1:c.3351A>G, NM_001384486.1:c.3360A>G, NM_001384488.1:c.3357A>G, NM_001384548.1:c.3342A>G, NM_001384487.1:c.3327A>G, NM_001384509.1:c.3324A>G, NM_001384543.1:c.3306A>G, NM_001384520.1:c.3297A>G, NM_001384564.1:c.3462A>G, NM_001384485.1:c.3237A>G, NR_169280.1:n.3631A>G, NM_001384544.1:c.2514A>G, NM_001384484.1:c.3237A>G, NM_001384476.1:c.3234A>G, NM_001384508.1:c.3231A>G, NM_001384496.1:c.3189A>G, NM_001384555.1:c.3402A>G, NM_001384553.1:c.3396A>G, NM_001384563.1:c.3393A>G, NM_001384483.1:c.3186A>G, NR_169279.1:n.3532A>G, NM_001384489.1:c.2415A>G, NM_001384507.1:c.3168A>G, NM_001384491.1:c.3141A>G, NM_001384567.1:c.3309A>G, NM_001384495.1:c.3105A>G, NM_001384480.1:c.3105A>G, NR_169281.1:n.3439A>G, NM_001384545.1:c.2322A>G, NM_001384572.1:c.3210A>G, NM_001384552.1:c.3207A>G, NM_001384562.1:c.3204A>G, NM_001384490.1:c.3006A>G, NM_001384556.1:c.3201A>G, NM_001384494.1:c.3003A>G, NM_001384579.1:c.3141A>G, NM_001384554.1:c.3108A>G, NM_001384550.1:c.3123A>G, NM_001384558.1:c.3117A>G, NM_001384478.1:c.2913A>G, NM_001384482.1:c.2904A>G, NM_001384549.1:c.3078A>G, NM_001384559.1:c.3075A>G, NM_001384551.1:c.3048A>G, NM_001384557.1:c.3039A>G, NM_001384560.1:c.2970A>G, NM_001384561.1:c.2886A>G, NR_169282.1:n.2992A>G, NM_001384505.1:c.1875A>G
                          16.

                          rs1473276456 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:101829512 (GRCh38)
                            2:102445974 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:101829511:A:G
                            Gene:
                            MAP4K4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.101829512A>G, NC_000002.11:g.102445974A>G, NM_004834.5:c.426A>G, NM_004834.4:c.426A>G, NM_145686.4:c.426A>G, NM_145686.3:c.426A>G, NM_145687.4:c.426A>G, NM_145687.3:c.426A>G, NM_001242559.2:c.426A>G, NM_001242559.1:c.426A>G, NM_001242560.2:c.426A>G, NM_001242560.1:c.426A>G, NM_001395002.1:c.426A>G, NM_001384497.1:c.426A>G, NM_001384492.1:c.426A>G, NM_001384493.1:c.426A>G, NM_001384477.1:c.426A>G, NM_001384506.1:c.426A>G, NM_001384481.1:c.426A>G, NM_001384486.1:c.426A>G, NM_001384488.1:c.426A>G, NM_001384548.1:c.426A>G, NM_001384487.1:c.426A>G, NM_001384509.1:c.426A>G, NM_001384543.1:c.426A>G, NM_001384520.1:c.426A>G, NM_001384564.1:c.399A>G, NM_001384485.1:c.426A>G, NR_169280.1:n.800A>G, NM_001384544.1:c.-318A>G, NM_001384484.1:c.426A>G, NM_001384476.1:c.426A>G, NM_001384508.1:c.426A>G, NM_001384496.1:c.426A>G, NM_001384555.1:c.399A>G, NM_001384553.1:c.399A>G, NM_001384563.1:c.399A>G, NM_001384483.1:c.426A>G, NR_169279.1:n.800A>G, NM_001384489.1:c.-318A>G, NM_001384507.1:c.426A>G, NM_001384491.1:c.426A>G, NM_001384567.1:c.399A>G, NM_001384495.1:c.426A>G, NM_001384480.1:c.426A>G, NR_169281.1:n.800A>G, NM_001384545.1:c.-318A>G, NM_001384572.1:c.399A>G, NM_001384552.1:c.399A>G, NM_001384562.1:c.399A>G, NM_001384490.1:c.426A>G, NM_001384556.1:c.399A>G, NM_001384494.1:c.426A>G, NM_001384579.1:c.399A>G, NM_001384554.1:c.399A>G, NM_001384550.1:c.399A>G, NM_001384558.1:c.399A>G, NM_001384478.1:c.426A>G, NM_001384482.1:c.426A>G, NM_001384549.1:c.399A>G, NM_001384559.1:c.399A>G, NM_001384551.1:c.399A>G, NM_001384557.1:c.399A>G, NM_001384560.1:c.399A>G, NM_001384561.1:c.399A>G, NR_169282.1:n.800A>G, NM_001384505.1:c.-318A>G
                            17.

                            rs1471865541 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              2:101887844 (GRCh38)
                              2:102504306 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:101887843:G:T
                              Gene:
                              MAP4K4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.101887844G>T, NC_000002.11:g.102504306G>T, NM_004834.5:c.3181G>T, NM_004834.4:c.3181G>T, NM_145686.4:c.3505G>T, NM_145686.3:c.3505G>T, NM_145687.4:c.3322G>T, NM_145687.3:c.3322G>T, NM_001242559.2:c.3403G>T, NM_001242559.1:c.3403G>T, NM_001242560.2:c.3391G>T, NM_001242560.1:c.3391G>T, NM_001395002.1:c.3838G>T, NM_001384497.1:c.3829G>T, NM_001384492.1:c.3742G>T, NM_001384493.1:c.3676G>T, NM_001384477.1:c.3670G>T, NM_001384506.1:c.3646G>T, NM_001384481.1:c.3622G>T, NM_001384486.1:c.3607G>T, NM_001384488.1:c.3604G>T, NM_001384548.1:c.3589G>T, NM_001384487.1:c.3574G>T, NM_001384509.1:c.3571G>T, NM_001384543.1:c.3553G>T, NM_001384520.1:c.3544G>T, NM_001384564.1:c.3709G>T, NM_001384485.1:c.3508G>T, NR_169280.1:n.3878G>T, NM_001384544.1:c.2761G>T, NM_001384484.1:c.3484G>T, NM_001384476.1:c.3481G>T, NM_001384508.1:c.3478G>T, NM_001384496.1:c.3460G>T, NM_001384555.1:c.3649G>T, NM_001384553.1:c.3643G>T, NM_001384563.1:c.3640G>T, NM_001384483.1:c.3433G>T, NR_169279.1:n.3803G>T, NM_001384489.1:c.2686G>T, NM_001384507.1:c.3415G>T, NM_001384491.1:c.3388G>T, NM_001384567.1:c.3556G>T, NM_001384495.1:c.3352G>T, NM_001384480.1:c.3352G>T, NR_169281.1:n.3686G>T, NM_001384545.1:c.2569G>T, NM_001384572.1:c.3457G>T, NM_001384552.1:c.3454G>T, NM_001384562.1:c.3451G>T, NM_001384490.1:c.3253G>T, NM_001384556.1:c.3448G>T, NM_001384494.1:c.3250G>T, NM_001384579.1:c.3388G>T, NM_001384554.1:c.3379G>T, NM_001384550.1:c.3370G>T, NM_001384558.1:c.3364G>T, NM_001384478.1:c.3160G>T, NM_001384482.1:c.3151G>T, NM_001384549.1:c.3325G>T, NM_001384559.1:c.3322G>T, NM_001384551.1:c.3295G>T, NM_001384557.1:c.3286G>T, NM_001384560.1:c.3217G>T, NM_001384561.1:c.3133G>T, NR_169282.1:n.3239G>T, NM_001384505.1:c.2122G>T, NP_004825.3:p.Val1061Leu, NP_663719.2:p.Val1169Leu, NP_663720.1:p.Val1108Leu, NP_001229488.1:p.Val1135Leu, NP_001229489.1:p.Val1131Leu, NP_001381931.1:p.Val1280Leu, NP_001371426.1:p.Val1277Leu, NP_001371421.1:p.Val1248Leu, NP_001371422.1:p.Val1226Leu, NP_001371406.1:p.Val1224Leu, NP_001371435.1:p.Val1216Leu, NP_001371410.1:p.Val1208Leu, NP_001371415.1:p.Val1203Leu, NP_001371417.1:p.Val1202Leu, NP_001371477.1:p.Val1197Leu, NP_001371416.1:p.Val1192Leu, NP_001371438.1:p.Val1191Leu, NP_001371472.1:p.Val1185Leu, NP_001371449.1:p.Val1182Leu, NP_001371493.1:p.Val1237Leu, NP_001371414.1:p.Val1170Leu, NP_001371413.1:p.Val1162Leu, NP_001371405.1:p.Val1161Leu, NP_001371437.1:p.Val1160Leu, NP_001371425.1:p.Val1154Leu, NP_001371484.1:p.Val1217Leu, NP_001371482.1:p.Val1215Leu, NP_001371492.1:p.Val1214Leu, NP_001371412.1:p.Val1145Leu, NP_001371436.1:p.Val1139Leu, NP_001371420.1:p.Val1130Leu, NP_001371496.1:p.Val1186Leu, NP_001371424.1:p.Val1118Leu, NP_001371501.1:p.Val1153Leu, NP_001371481.1:p.Val1152Leu, NP_001371491.1:p.Val1151Leu, NP_001371419.1:p.Val1085Leu, NP_001371485.1:p.Val1150Leu, NP_001371423.1:p.Val1084Leu, NP_001371508.1:p.Val1130Leu, NP_001371483.1:p.Val1127Leu, NP_001371479.1:p.Val1124Leu, NP_001371487.1:p.Val1122Leu, NP_001371407.1:p.Val1054Leu, NP_001371411.1:p.Val1051Leu, NP_001371478.1:p.Val1109Leu, NP_001371488.1:p.Val1108Leu, NP_001371480.1:p.Val1099Leu, NP_001371486.1:p.Val1096Leu, NP_001371489.1:p.Val1073Leu, NP_001371490.1:p.Val1045Leu
                              18.

                              rs1471305706 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:101790766 (GRCh38)
                                2:102407228 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:101790765:A:G
                                Gene:
                                MAP4K4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.101790766A>G, NC_000002.11:g.102407228A>G, NM_004834.5:c.170A>G, NM_004834.4:c.170A>G, NM_145686.4:c.170A>G, NM_145686.3:c.170A>G, NM_145687.4:c.170A>G, NM_145687.3:c.170A>G, NM_001242559.2:c.170A>G, NM_001242559.1:c.170A>G, NM_001242560.2:c.170A>G, NM_001242560.1:c.170A>G, NM_001395002.1:c.170A>G, NM_001384497.1:c.170A>G, NM_001384492.1:c.170A>G, NM_001384493.1:c.170A>G, NM_001384477.1:c.170A>G, NM_001384506.1:c.170A>G, NM_001384481.1:c.170A>G, NM_001384486.1:c.170A>G, NM_001384488.1:c.170A>G, NM_001384548.1:c.170A>G, NM_001384487.1:c.170A>G, NM_001384509.1:c.170A>G, NM_001384543.1:c.170A>G, NM_001384520.1:c.170A>G, NM_001384564.1:c.143A>G, NM_001384485.1:c.170A>G, NR_169280.1:n.544A>G, NM_001384544.1:c.-574A>G, NM_001384484.1:c.170A>G, NM_001384476.1:c.170A>G, NM_001384508.1:c.170A>G, NM_001384496.1:c.170A>G, NM_001384555.1:c.143A>G, NM_001384553.1:c.143A>G, NM_001384563.1:c.143A>G, NM_001384483.1:c.170A>G, NR_169279.1:n.544A>G, NM_001384489.1:c.-574A>G, NM_001384507.1:c.170A>G, NM_001384491.1:c.170A>G, NM_001384567.1:c.143A>G, NM_001384495.1:c.170A>G, NM_001384480.1:c.170A>G, NR_169281.1:n.544A>G, NM_001384545.1:c.-574A>G, NM_001384572.1:c.143A>G, NM_001384552.1:c.143A>G, NM_001384562.1:c.143A>G, NM_001384490.1:c.170A>G, NM_001384556.1:c.143A>G, NM_001384494.1:c.170A>G, NM_001384579.1:c.143A>G, NM_001384554.1:c.143A>G, NM_001384550.1:c.143A>G, NM_001384558.1:c.143A>G, NM_001384478.1:c.170A>G, NM_001384482.1:c.170A>G, NM_001384549.1:c.143A>G, NM_001384559.1:c.143A>G, NM_001384551.1:c.143A>G, NM_001384557.1:c.143A>G, NM_001384560.1:c.143A>G, NM_001384561.1:c.143A>G, NR_169282.1:n.544A>G, NM_001384505.1:c.-574A>G, NP_004825.3:p.Asp57Gly, NP_663719.2:p.Asp57Gly, NP_663720.1:p.Asp57Gly, NP_001229488.1:p.Asp57Gly, NP_001229489.1:p.Asp57Gly, NP_001381931.1:p.Asp57Gly, NP_001371426.1:p.Asp57Gly, NP_001371421.1:p.Asp57Gly, NP_001371422.1:p.Asp57Gly, NP_001371406.1:p.Asp57Gly, NP_001371435.1:p.Asp57Gly, NP_001371410.1:p.Asp57Gly, NP_001371415.1:p.Asp57Gly, NP_001371417.1:p.Asp57Gly, NP_001371477.1:p.Asp57Gly, NP_001371416.1:p.Asp57Gly, NP_001371438.1:p.Asp57Gly, NP_001371472.1:p.Asp57Gly, NP_001371449.1:p.Asp57Gly, NP_001371493.1:p.Asp48Gly, NP_001371414.1:p.Asp57Gly, NP_001371413.1:p.Asp57Gly, NP_001371405.1:p.Asp57Gly, NP_001371437.1:p.Asp57Gly, NP_001371425.1:p.Asp57Gly, NP_001371484.1:p.Asp48Gly, NP_001371482.1:p.Asp48Gly, NP_001371492.1:p.Asp48Gly, NP_001371412.1:p.Asp57Gly, NP_001371436.1:p.Asp57Gly, NP_001371420.1:p.Asp57Gly, NP_001371496.1:p.Asp48Gly, NP_001371424.1:p.Asp57Gly, NP_001371501.1:p.Asp48Gly, NP_001371481.1:p.Asp48Gly, NP_001371491.1:p.Asp48Gly, NP_001371419.1:p.Asp57Gly, NP_001371485.1:p.Asp48Gly, NP_001371423.1:p.Asp57Gly, NP_001371508.1:p.Asp48Gly, NP_001371483.1:p.Asp48Gly, NP_001371479.1:p.Asp48Gly, NP_001371487.1:p.Asp48Gly, NP_001371407.1:p.Asp57Gly, NP_001371411.1:p.Asp57Gly, NP_001371478.1:p.Asp48Gly, NP_001371488.1:p.Asp48Gly, NP_001371480.1:p.Asp48Gly, NP_001371486.1:p.Asp48Gly, NP_001371489.1:p.Asp48Gly, NP_001371490.1:p.Asp48Gly
                                19.

                                rs1470976919 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:101885221 (GRCh38)
                                  2:102501683 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:101885220:T:C
                                  Gene:
                                  MAP4K4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.101885221T>C, NC_000002.11:g.102501683T>C, NM_004834.5:c.2874T>C, NM_004834.4:c.2874T>C, NM_145686.4:c.3222T>C, NM_145686.3:c.3222T>C, NM_145687.4:c.3039T>C, NM_145687.3:c.3039T>C, NM_001242559.2:c.3120T>C, NM_001242559.1:c.3120T>C, NM_001242560.2:c.3108T>C, NM_001242560.1:c.3108T>C, NM_001395002.1:c.3555T>C, NM_001384497.1:c.3546T>C, NM_001384492.1:c.3459T>C, NM_001384493.1:c.3393T>C, NM_001384477.1:c.3387T>C, NM_001384506.1:c.3363T>C, NM_001384481.1:c.3315T>C, NM_001384486.1:c.3324T>C, NM_001384488.1:c.3321T>C, NM_001384548.1:c.3306T>C, NM_001384487.1:c.3291T>C, NM_001384509.1:c.3288T>C, NM_001384543.1:c.3270T>C, NM_001384520.1:c.3261T>C, NM_001384564.1:c.3426T>C, NM_001384485.1:c.3201T>C, NR_169280.1:n.3595T>C, NM_001384544.1:c.2478T>C, NM_001384484.1:c.3201T>C, NM_001384476.1:c.3198T>C, NM_001384508.1:c.3195T>C, NM_001384496.1:c.3153T>C, NM_001384555.1:c.3366T>C, NM_001384553.1:c.3360T>C, NM_001384563.1:c.3357T>C, NM_001384483.1:c.3150T>C, NR_169279.1:n.3496T>C, NM_001384489.1:c.2379T>C, NM_001384507.1:c.3132T>C, NM_001384491.1:c.3105T>C, NM_001384567.1:c.3273T>C, NM_001384495.1:c.3069T>C, NM_001384480.1:c.3069T>C, NR_169281.1:n.3403T>C, NM_001384545.1:c.2286T>C, NM_001384572.1:c.3174T>C, NM_001384552.1:c.3171T>C, NM_001384562.1:c.3168T>C, NM_001384490.1:c.2970T>C, NM_001384556.1:c.3165T>C, NM_001384494.1:c.2967T>C, NM_001384579.1:c.3105T>C, NM_001384554.1:c.3072T>C, NM_001384550.1:c.3087T>C, NM_001384558.1:c.3081T>C, NM_001384478.1:c.2877T>C, NM_001384482.1:c.2868T>C, NM_001384549.1:c.3042T>C, NM_001384559.1:c.3039T>C, NM_001384551.1:c.3012T>C, NM_001384557.1:c.3003T>C, NM_001384560.1:c.2934T>C, NM_001384561.1:c.2850T>C, NR_169282.1:n.2956T>C, NM_001384505.1:c.1839T>C
                                  20.

                                  rs1469937120 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:101856072 (GRCh38)
                                    2:102472534 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:101856071:A:G
                                    Gene:
                                    MAP4K4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.101856072A>G, NC_000002.11:g.102472534A>G, NM_004834.5:c.1329A>G, NM_004834.4:c.1329A>G, NM_145686.4:c.1329A>G, NM_145686.3:c.1329A>G, NM_145687.4:c.1329A>G, NM_145687.3:c.1329A>G, NM_001242559.2:c.1329A>G, NM_001242559.1:c.1329A>G, NM_001242560.2:c.1329A>G, NM_001242560.1:c.1329A>G, NM_001395002.1:c.1329A>G, NM_001384497.1:c.1329A>G, NM_001384492.1:c.1329A>G, NM_001384493.1:c.1329A>G, NM_001384477.1:c.1329A>G, NM_001384506.1:c.1329A>G, NM_001384481.1:c.1329A>G, NM_001384486.1:c.1329A>G, NM_001384488.1:c.1329A>G, NM_001384548.1:c.1329A>G, NM_001384487.1:c.1329A>G, NM_001384509.1:c.1329A>G, NM_001384543.1:c.1329A>G, NM_001384520.1:c.1329A>G, NM_001384564.1:c.1302A>G, NM_001384485.1:c.1329A>G, NR_169280.1:n.1624A>G, NM_001384544.1:c.507A>G, NM_001384484.1:c.1329A>G, NM_001384476.1:c.1329A>G, NM_001384508.1:c.1329A>G, NM_001384496.1:c.1329A>G, NM_001384555.1:c.1302A>G, NM_001384553.1:c.1302A>G, NM_001384563.1:c.1302A>G, NM_001384483.1:c.1329A>G, NR_169279.1:n.1624A>G, NM_001384489.1:c.507A>G, NM_001384507.1:c.1329A>G, NM_001384491.1:c.1329A>G, NM_001384567.1:c.1302A>G, NM_001384495.1:c.1329A>G, NM_001384480.1:c.1329A>G, NR_169281.1:n.1624A>G, NM_001384545.1:c.507A>G, NM_001384572.1:c.1302A>G, NM_001384552.1:c.1302A>G, NM_001384562.1:c.1302A>G, NM_001384490.1:c.1329A>G, NM_001384556.1:c.1302A>G, NM_001384494.1:c.1329A>G, NM_001384579.1:c.1302A>G, NM_001384554.1:c.1302A>G, NM_001384550.1:c.1302A>G, NM_001384558.1:c.1302A>G, NM_001384478.1:c.1329A>G, NM_001384482.1:c.1329A>G, NM_001384549.1:c.1302A>G, NM_001384559.1:c.1302A>G, NM_001384551.1:c.1302A>G, NM_001384557.1:c.1302A>G, NM_001384560.1:c.1302A>G, NM_001384561.1:c.1302A>G, NR_169282.1:n.1624A>G, NM_001384505.1:c.507A>G

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