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Items: 1 to 20 of 1468

1.

rs1490909451 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:1767841 (GRCh38)
    16:1817842 (GRCh37)
    Canonical SPDI:
    NC_000016.10:1767840:C:T
    Gene:
    MAPK8IP3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000016.10:g.1767841C>T, NC_000016.9:g.1817842C>T, NM_015133.5:c.3443C>T, NM_015133.4:c.3443C>T, NM_015133.3:c.3443C>T, XM_011522429.3:c.3470C>T, XM_011522429.2:c.3470C>T, XM_011522429.1:c.3470C>T, XM_011522430.3:c.3452C>T, XM_011522430.2:c.3452C>T, XM_011522430.1:c.3452C>T, XM_005255190.3:c.3401C>T, XM_005255190.2:c.3401C>T, XM_005255190.1:c.3401C>T, NM_033392.3:c.3443C>T, NM_001318852.2:c.3446C>T, NM_001318852.1:c.3446C>T, NM_001040439.2:c.3425C>T, NM_001040439.1:c.3425C>T, NM_033392.2:c.3437C>T, XM_047433815.1:c.2966C>T, XM_047433816.1:c.2684C>T, XM_047433812.1:c.3443C>T, XM_047433813.1:c.3425C>T, XM_047433814.1:c.2972C>T, XM_047433817.1:c.2198C>T, NP_055948.2:p.Thr1148Met, XP_011520731.1:p.Thr1157Met, XP_011520732.1:p.Thr1151Met, XP_005255247.1:p.Thr1134Met, NP_001305781.1:p.Thr1149Met, NP_001035529.1:p.Thr1142Met, XP_047289771.1:p.Thr989Met, XP_047289772.1:p.Thr895Met, XP_047289768.1:p.Thr1148Met, XP_047289769.1:p.Thr1142Met, XP_047289770.1:p.Thr991Met, XP_047289773.1:p.Thr733Met

    2.

    rs1490876846 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:1768346 (GRCh38)
      16:1818347 (GRCh37)
      Canonical SPDI:
      NC_000016.10:1768345:G:A
      Gene:
      MAPK8IP3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.1768346G>A, NC_000016.9:g.1818347G>A, NM_015133.5:c.3707G>A, NM_015133.4:c.3707G>A, NM_015133.3:c.3707G>A, XM_011522429.3:c.3734G>A, XM_011522429.2:c.3734G>A, XM_011522429.1:c.3734G>A, XM_011522430.3:c.3716G>A, XM_011522430.2:c.3716G>A, XM_011522430.1:c.3716G>A, XM_005255190.3:c.3665G>A, XM_005255190.2:c.3665G>A, XM_005255190.1:c.3665G>A, NM_033392.3:c.3707G>A, NM_001318852.2:c.3710G>A, NM_001318852.1:c.3710G>A, NM_001040439.2:c.3689G>A, NM_001040439.1:c.3689G>A, NM_033392.2:c.3701G>A, XM_047433815.1:c.3230G>A, XM_047433816.1:c.2948G>A, XM_047433812.1:c.3707G>A, XM_047433813.1:c.3689G>A, XM_047433814.1:c.3236G>A, XM_047433817.1:c.2462G>A, NP_055948.2:p.Arg1236His, XP_011520731.1:p.Arg1245His, XP_011520732.1:p.Arg1239His, XP_005255247.1:p.Arg1222His, NP_001305781.1:p.Arg1237His, NP_001035529.1:p.Arg1230His, XP_047289771.1:p.Arg1077His, XP_047289772.1:p.Arg983His, XP_047289768.1:p.Arg1236His, XP_047289769.1:p.Arg1230His, XP_047289770.1:p.Arg1079His, XP_047289773.1:p.Arg821His

      3.

      rs1489671811 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:1768536 (GRCh38)
        16:1818537 (GRCh37)
        Canonical SPDI:
        NC_000016.10:1768535:C:T
        Gene:
        MAPK8IP3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000016.10:g.1768536C>T, NC_000016.9:g.1818537C>T, NM_015133.5:c.3799C>T, NM_015133.4:c.3799C>T, NM_015133.3:c.3799C>T, XM_011522429.3:c.3826C>T, XM_011522429.2:c.3826C>T, XM_011522429.1:c.3826C>T, XM_011522430.3:c.3808C>T, XM_011522430.2:c.3808C>T, XM_011522430.1:c.3808C>T, XM_005255190.3:c.3757C>T, XM_005255190.2:c.3757C>T, XM_005255190.1:c.3757C>T, NM_033392.3:c.3799C>T, NM_001318852.2:c.3802C>T, NM_001318852.1:c.3802C>T, NM_001040439.2:c.3781C>T, NM_001040439.1:c.3781C>T, NM_033392.2:c.3793C>T, XM_047433815.1:c.3322C>T, XM_047433816.1:c.3040C>T, XM_047433812.1:c.3799C>T, XM_047433813.1:c.3781C>T, XM_047433814.1:c.3328C>T, XM_047433817.1:c.2554C>T, NP_055948.2:p.Pro1267Ser, XP_011520731.1:p.Pro1276Ser, XP_011520732.1:p.Pro1270Ser, XP_005255247.1:p.Pro1253Ser, NP_001305781.1:p.Pro1268Ser, NP_001035529.1:p.Pro1261Ser, XP_047289771.1:p.Pro1108Ser, XP_047289772.1:p.Pro1014Ser, XP_047289768.1:p.Pro1267Ser, XP_047289769.1:p.Pro1261Ser, XP_047289770.1:p.Pro1110Ser, XP_047289773.1:p.Pro852Ser

        4.

        rs1488755709 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:1768341 (GRCh38)
          16:1818342 (GRCh37)
          Canonical SPDI:
          NC_000016.10:1768340:G:A
          Gene:
          MAPK8IP3 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000008/2 (GnomAD_exomes)
          HGVS:

          5.

          rs1488601011 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:1762455 (GRCh38)
            16:1812456 (GRCh37)
            Canonical SPDI:
            NC_000016.10:1762454:G:A
            Gene:
            MAPK8IP3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.00005/1 (ALFA)
            HGVS:

            6.

            rs1487903826 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:1764433 (GRCh38)
              16:1814434 (GRCh37)
              Canonical SPDI:
              NC_000016.10:1764432:G:A
              Gene:
              MAPK8IP3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000062/2 (ALFA)
              A=0.000008/2 (GnomAD_exomes)
              A=0.000014/2 (GnomAD)
              A=0.000546/1 (Korea1K)
              HGVS:
              NC_000016.10:g.1764433G>A, NC_000016.9:g.1814434G>A, NM_015133.5:c.2251G>A, NM_015133.4:c.2251G>A, NM_015133.3:c.2251G>A, XM_011522429.3:c.2278G>A, XM_011522429.2:c.2278G>A, XM_011522429.1:c.2278G>A, XM_011522430.3:c.2260G>A, XM_011522430.2:c.2260G>A, XM_011522430.1:c.2260G>A, XM_005255190.3:c.2209G>A, XM_005255190.2:c.2209G>A, XM_005255190.1:c.2209G>A, NM_033392.3:c.2251G>A, NM_001318852.2:c.2254G>A, NM_001318852.1:c.2254G>A, NM_001040439.2:c.2233G>A, NM_001040439.1:c.2233G>A, NM_033392.2:c.2245G>A, XM_047433815.1:c.1774G>A, XM_047433816.1:c.1492G>A, XM_047433812.1:c.2251G>A, XM_047433813.1:c.2233G>A, XM_047433814.1:c.1780G>A, XM_047433817.1:c.1006G>A, NP_055948.2:p.Ala751Thr, XP_011520731.1:p.Ala760Thr, XP_011520732.1:p.Ala754Thr, XP_005255247.1:p.Ala737Thr, NP_001305781.1:p.Ala752Thr, NP_001035529.1:p.Ala745Thr, XP_047289771.1:p.Ala592Thr, XP_047289772.1:p.Ala498Thr, XP_047289768.1:p.Ala751Thr, XP_047289769.1:p.Ala745Thr, XP_047289770.1:p.Ala594Thr, XP_047289773.1:p.Ala336Thr

              7.

              rs1487272837 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                16:1766275 (GRCh38)
                16:1816276 (GRCh37)
                Canonical SPDI:
                NC_000016.10:1766274:G:C
                Gene:
                MAPK8IP3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.1766275G>C, NC_000016.9:g.1816276G>C, NM_015133.5:c.2682G>C, NM_015133.4:c.2682G>C, NM_015133.3:c.2682G>C, XM_011522429.3:c.2709G>C, XM_011522429.2:c.2709G>C, XM_011522429.1:c.2709G>C, XM_011522430.3:c.2691G>C, XM_011522430.2:c.2691G>C, XM_011522430.1:c.2691G>C, XM_005255190.3:c.2640G>C, XM_005255190.2:c.2640G>C, XM_005255190.1:c.2640G>C, NM_033392.3:c.2682G>C, NM_001318852.2:c.2685G>C, NM_001318852.1:c.2685G>C, NM_001040439.2:c.2664G>C, NM_001040439.1:c.2664G>C, NM_033392.2:c.2676G>C, XM_047433815.1:c.2205G>C, XM_047433816.1:c.1923G>C, XM_047433812.1:c.2682G>C, XM_047433813.1:c.2664G>C, XM_047433814.1:c.2211G>C, XM_047433817.1:c.1437G>C, NP_055948.2:p.Glu894Asp, XP_011520731.1:p.Glu903Asp, XP_011520732.1:p.Glu897Asp, XP_005255247.1:p.Glu880Asp, NP_001305781.1:p.Glu895Asp, NP_001035529.1:p.Glu888Asp, XP_047289771.1:p.Glu735Asp, XP_047289772.1:p.Glu641Asp, XP_047289768.1:p.Glu894Asp, XP_047289769.1:p.Glu888Asp, XP_047289770.1:p.Glu737Asp, XP_047289773.1:p.Glu479Asp

                8.

                rs1486971621 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:1764131 (GRCh38)
                  16:1814132 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:1764130:G:A
                  Gene:
                  MAPK8IP3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000016.10:g.1764131G>A, NC_000016.9:g.1814132G>A, NM_015133.5:c.2039G>A, NM_015133.4:c.2039G>A, NM_015133.3:c.2039G>A, XM_011522429.3:c.2066G>A, XM_011522429.2:c.2066G>A, XM_011522429.1:c.2066G>A, XM_011522430.3:c.2048G>A, XM_011522430.2:c.2048G>A, XM_011522430.1:c.2048G>A, XM_005255190.3:c.1997G>A, XM_005255190.2:c.1997G>A, XM_005255190.1:c.1997G>A, NM_033392.3:c.2039G>A, NM_001318852.2:c.2042G>A, NM_001318852.1:c.2042G>A, NM_001040439.2:c.2021G>A, NM_001040439.1:c.2021G>A, NM_033392.2:c.2033G>A, XM_047433815.1:c.1562G>A, XM_047433816.1:c.1280G>A, XM_047433812.1:c.2039G>A, XM_047433813.1:c.2021G>A, XM_047433814.1:c.1568G>A, XM_047433817.1:c.794G>A, NP_055948.2:p.Gly680Asp, XP_011520731.1:p.Gly689Asp, XP_011520732.1:p.Gly683Asp, XP_005255247.1:p.Gly666Asp, NP_001305781.1:p.Gly681Asp, NP_001035529.1:p.Gly674Asp, XP_047289771.1:p.Gly521Asp, XP_047289772.1:p.Gly427Asp, XP_047289768.1:p.Gly680Asp, XP_047289769.1:p.Gly674Asp, XP_047289770.1:p.Gly523Asp, XP_047289773.1:p.Gly265Asp

                  9.

                  rs1486662509 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    16:1768526 (GRCh38)
                    16:1818527 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:1768525:G:A,NC_000016.10:1768525:G:T
                    Gene:
                    MAPK8IP3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000016.10:g.1768526G>A, NC_000016.10:g.1768526G>T, NC_000016.9:g.1818527G>A, NC_000016.9:g.1818527G>T, NM_015133.5:c.3789G>A, NM_015133.5:c.3789G>T, NM_015133.4:c.3789G>A, NM_015133.4:c.3789G>T, NM_015133.3:c.3789G>A, NM_015133.3:c.3789G>T, XM_011522429.3:c.3816G>A, XM_011522429.3:c.3816G>T, XM_011522429.2:c.3816G>A, XM_011522429.2:c.3816G>T, XM_011522429.1:c.3816G>A, XM_011522429.1:c.3816G>T, XM_011522430.3:c.3798G>A, XM_011522430.3:c.3798G>T, XM_011522430.2:c.3798G>A, XM_011522430.2:c.3798G>T, XM_011522430.1:c.3798G>A, XM_011522430.1:c.3798G>T, XM_005255190.3:c.3747G>A, XM_005255190.3:c.3747G>T, XM_005255190.2:c.3747G>A, XM_005255190.2:c.3747G>T, XM_005255190.1:c.3747G>A, XM_005255190.1:c.3747G>T, NM_033392.3:c.3789G>A, NM_033392.3:c.3789G>T, NM_001318852.2:c.3792G>A, NM_001318852.2:c.3792G>T, NM_001318852.1:c.3792G>A, NM_001318852.1:c.3792G>T, NM_001040439.2:c.3771G>A, NM_001040439.2:c.3771G>T, NM_001040439.1:c.3771G>A, NM_001040439.1:c.3771G>T, NM_033392.2:c.3783G>A, NM_033392.2:c.3783G>T, XM_047433815.1:c.3312G>A, XM_047433815.1:c.3312G>T, XM_047433816.1:c.3030G>A, XM_047433816.1:c.3030G>T, XM_047433812.1:c.3789G>A, XM_047433812.1:c.3789G>T, XM_047433813.1:c.3771G>A, XM_047433813.1:c.3771G>T, XM_047433814.1:c.3318G>A, XM_047433814.1:c.3318G>T, XM_047433817.1:c.2544G>A, XM_047433817.1:c.2544G>T, NP_055948.2:p.Glu1263Asp, XP_011520731.1:p.Glu1272Asp, XP_011520732.1:p.Glu1266Asp, XP_005255247.1:p.Glu1249Asp, NP_001305781.1:p.Glu1264Asp, NP_001035529.1:p.Glu1257Asp, XP_047289771.1:p.Glu1104Asp, XP_047289772.1:p.Glu1010Asp, XP_047289768.1:p.Glu1263Asp, XP_047289769.1:p.Glu1257Asp, XP_047289770.1:p.Glu1106Asp, XP_047289773.1:p.Glu848Asp

                    10.

                    rs1485299291 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:1724621 (GRCh38)
                      16:1774622 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:1724620:A:G
                      Gene:
                      MAPK8IP3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000016.10:g.1724621A>G, NC_000016.9:g.1774622A>G, NM_015133.5:c.383A>G, NM_015133.4:c.383A>G, NM_015133.3:c.383A>G, XM_011522429.3:c.383A>G, XM_011522429.2:c.383A>G, XM_011522429.1:c.383A>G, XM_011522430.3:c.383A>G, XM_011522430.2:c.383A>G, XM_011522430.1:c.383A>G, XM_005255190.3:c.383A>G, XM_005255190.2:c.383A>G, XM_005255190.1:c.383A>G, NM_033392.3:c.383A>G, NM_001318852.2:c.383A>G, NM_001318852.1:c.383A>G, NM_001040439.2:c.383A>G, NM_001040439.1:c.383A>G, NM_033392.2:c.383A>G, XM_047433812.1:c.383A>G, XM_047433813.1:c.383A>G, XM_047433814.1:c.-45A>G, NM_033392.1:c.383A>G, NP_055948.2:p.His128Arg, XP_011520731.1:p.His128Arg, XP_011520732.1:p.His128Arg, XP_005255247.1:p.His128Arg, NP_001305781.1:p.His128Arg, NP_001035529.1:p.His128Arg, XP_047289768.1:p.His128Arg, XP_047289769.1:p.His128Arg

                      11.

                      rs1484774643 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:1706355 (GRCh38)
                        16:1756356 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:1706354:A:G
                        Gene:
                        MAPK8IP3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1483814478 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:1768477 (GRCh38)
                          16:1818478 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:1768476:G:A
                          Gene:
                          MAPK8IP3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000016.10:g.1768477G>A, NC_000016.9:g.1818478G>A, NM_015133.5:c.3740G>A, NM_015133.4:c.3740G>A, NM_015133.3:c.3740G>A, XM_011522429.3:c.3767G>A, XM_011522429.2:c.3767G>A, XM_011522429.1:c.3767G>A, XM_011522430.3:c.3749G>A, XM_011522430.2:c.3749G>A, XM_011522430.1:c.3749G>A, XM_005255190.3:c.3698G>A, XM_005255190.2:c.3698G>A, XM_005255190.1:c.3698G>A, NM_033392.3:c.3740G>A, NM_001318852.2:c.3743G>A, NM_001318852.1:c.3743G>A, NM_001040439.2:c.3722G>A, NM_001040439.1:c.3722G>A, NM_033392.2:c.3734G>A, XM_047433815.1:c.3263G>A, XM_047433816.1:c.2981G>A, XM_047433812.1:c.3740G>A, XM_047433813.1:c.3722G>A, XM_047433814.1:c.3269G>A, XM_047433817.1:c.2495G>A, NP_055948.2:p.Gly1247Glu, XP_011520731.1:p.Gly1256Glu, XP_011520732.1:p.Gly1250Glu, XP_005255247.1:p.Gly1233Glu, NP_001305781.1:p.Gly1248Glu, NP_001035529.1:p.Gly1241Glu, XP_047289771.1:p.Gly1088Glu, XP_047289772.1:p.Gly994Glu, XP_047289768.1:p.Gly1247Glu, XP_047289769.1:p.Gly1241Glu, XP_047289770.1:p.Gly1090Glu, XP_047289773.1:p.Gly832Glu

                          13.

                          rs1483691329 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:1768255 (GRCh38)
                            16:1818256 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:1768254:G:A
                            Gene:
                            MAPK8IP3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.1768255G>A, NC_000016.9:g.1818256G>A, NM_015133.5:c.3616G>A, NM_015133.4:c.3616G>A, NM_015133.3:c.3616G>A, XM_011522429.3:c.3643G>A, XM_011522429.2:c.3643G>A, XM_011522429.1:c.3643G>A, XM_011522430.3:c.3625G>A, XM_011522430.2:c.3625G>A, XM_011522430.1:c.3625G>A, XM_005255190.3:c.3574G>A, XM_005255190.2:c.3574G>A, XM_005255190.1:c.3574G>A, NM_033392.3:c.3616G>A, NM_001318852.2:c.3619G>A, NM_001318852.1:c.3619G>A, NM_001040439.2:c.3598G>A, NM_001040439.1:c.3598G>A, NM_033392.2:c.3610G>A, XM_047433815.1:c.3139G>A, XM_047433816.1:c.2857G>A, XM_047433812.1:c.3616G>A, XM_047433813.1:c.3598G>A, XM_047433814.1:c.3145G>A, XM_047433817.1:c.2371G>A, NP_055948.2:p.Val1206Met, XP_011520731.1:p.Val1215Met, XP_011520732.1:p.Val1209Met, XP_005255247.1:p.Val1192Met, NP_001305781.1:p.Val1207Met, NP_001035529.1:p.Val1200Met, XP_047289771.1:p.Val1047Met, XP_047289772.1:p.Val953Met, XP_047289768.1:p.Val1206Met, XP_047289769.1:p.Val1200Met, XP_047289770.1:p.Val1049Met, XP_047289773.1:p.Val791Met

                            14.

                            rs1483324873 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:1724614 (GRCh38)
                              16:1774615 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:1724613:G:A
                              Gene:
                              MAPK8IP3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000007/1 (GnomAD)
                              G=0.5/1 (SGDP_PRJ)
                              HGVS:
                              NC_000016.10:g.1724614G>A, NC_000016.9:g.1774615G>A, NM_015133.5:c.376G>A, NM_015133.4:c.376G>A, NM_015133.3:c.376G>A, XM_011522429.3:c.376G>A, XM_011522429.2:c.376G>A, XM_011522429.1:c.376G>A, XM_011522430.3:c.376G>A, XM_011522430.2:c.376G>A, XM_011522430.1:c.376G>A, XM_005255190.3:c.376G>A, XM_005255190.2:c.376G>A, XM_005255190.1:c.376G>A, NM_033392.3:c.376G>A, NM_001318852.2:c.376G>A, NM_001318852.1:c.376G>A, NM_001040439.2:c.376G>A, NM_001040439.1:c.376G>A, NM_033392.2:c.376G>A, XM_047433812.1:c.376G>A, XM_047433813.1:c.376G>A, XM_047433814.1:c.-52G>A, NM_033392.1:c.376G>A, NP_055948.2:p.Val126Met, XP_011520731.1:p.Val126Met, XP_011520732.1:p.Val126Met, XP_005255247.1:p.Val126Met, NP_001305781.1:p.Val126Met, NP_001035529.1:p.Val126Met, XP_047289768.1:p.Val126Met, XP_047289769.1:p.Val126Met

                              15.

                              rs1483273496 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:1743375 (GRCh38)
                                16:1793376 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:1743374:G:A
                                Gene:
                                MAPK8IP3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.1743375G>A, NC_000016.9:g.1793376G>A, NM_015133.5:c.643G>A, NM_015133.4:c.643G>A, NM_015133.3:c.643G>A, XM_011522429.3:c.670G>A, XM_011522429.2:c.670G>A, XM_011522429.1:c.670G>A, XM_011522430.3:c.670G>A, XM_011522430.2:c.670G>A, XM_011522430.1:c.670G>A, XM_005255190.3:c.646G>A, XM_005255190.2:c.646G>A, XM_005255190.1:c.646G>A, NM_033392.3:c.643G>A, NM_001318852.2:c.646G>A, NM_001318852.1:c.646G>A, NM_001040439.2:c.643G>A, NM_001040439.1:c.643G>A, NM_033392.2:c.643G>A, XM_047433812.1:c.670G>A, XM_047433813.1:c.670G>A, XM_047433814.1:c.172G>A, NM_033392.1:c.643G>A, NP_055948.2:p.Asp215Asn, XP_011520731.1:p.Asp224Asn, XP_011520732.1:p.Asp224Asn, XP_005255247.1:p.Asp216Asn, NP_001305781.1:p.Asp216Asn, NP_001035529.1:p.Asp215Asn, XP_047289768.1:p.Asp224Asn, XP_047289769.1:p.Asp224Asn, XP_047289770.1:p.Asp58Asn

                                16.

                                rs1482275762 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  16:1764381 (GRCh38)
                                  16:1814382 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:1764380:A:G,NC_000016.10:1764380:A:T
                                  Gene:
                                  MAPK8IP3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.1764381A>G, NC_000016.10:g.1764381A>T, NC_000016.9:g.1814382A>G, NC_000016.9:g.1814382A>T, NM_015133.5:c.2199A>G, NM_015133.5:c.2199A>T, NM_015133.4:c.2199A>G, NM_015133.4:c.2199A>T, NM_015133.3:c.2199A>G, NM_015133.3:c.2199A>T, XM_011522429.3:c.2226A>G, XM_011522429.3:c.2226A>T, XM_011522429.2:c.2226A>G, XM_011522429.2:c.2226A>T, XM_011522429.1:c.2226A>G, XM_011522429.1:c.2226A>T, XM_011522430.3:c.2208A>G, XM_011522430.3:c.2208A>T, XM_011522430.2:c.2208A>G, XM_011522430.2:c.2208A>T, XM_011522430.1:c.2208A>G, XM_011522430.1:c.2208A>T, XM_005255190.3:c.2157A>G, XM_005255190.3:c.2157A>T, XM_005255190.2:c.2157A>G, XM_005255190.2:c.2157A>T, XM_005255190.1:c.2157A>G, XM_005255190.1:c.2157A>T, NM_033392.3:c.2199A>G, NM_033392.3:c.2199A>T, NM_001318852.2:c.2202A>G, NM_001318852.2:c.2202A>T, NM_001318852.1:c.2202A>G, NM_001318852.1:c.2202A>T, NM_001040439.2:c.2181A>G, NM_001040439.2:c.2181A>T, NM_001040439.1:c.2181A>G, NM_001040439.1:c.2181A>T, NM_033392.2:c.2193A>G, NM_033392.2:c.2193A>T, XM_047433815.1:c.1722A>G, XM_047433815.1:c.1722A>T, XM_047433816.1:c.1440A>G, XM_047433816.1:c.1440A>T, XM_047433812.1:c.2199A>G, XM_047433812.1:c.2199A>T, XM_047433813.1:c.2181A>G, XM_047433813.1:c.2181A>T, XM_047433814.1:c.1728A>G, XM_047433814.1:c.1728A>T, XM_047433817.1:c.954A>G, XM_047433817.1:c.954A>T

                                  17.

                                  rs1482204550 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    16:1767180 (GRCh38)
                                    16:1817181 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:1767179:A:C
                                    Gene:
                                    MAPK8IP3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1481302173 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:1764328 (GRCh38)
                                      16:1814329 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:1764327:A:G
                                      Gene:
                                      MAPK8IP3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000011/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.1764328A>G, NC_000016.9:g.1814329A>G, NM_015133.5:c.2146A>G, NM_015133.4:c.2146A>G, NM_015133.3:c.2146A>G, XM_011522429.3:c.2173A>G, XM_011522429.2:c.2173A>G, XM_011522429.1:c.2173A>G, XM_011522430.3:c.2155A>G, XM_011522430.2:c.2155A>G, XM_011522430.1:c.2155A>G, XM_005255190.3:c.2104A>G, XM_005255190.2:c.2104A>G, XM_005255190.1:c.2104A>G, NM_033392.3:c.2146A>G, NM_001318852.2:c.2149A>G, NM_001318852.1:c.2149A>G, NM_001040439.2:c.2128A>G, NM_001040439.1:c.2128A>G, NM_033392.2:c.2140A>G, XM_047433815.1:c.1669A>G, XM_047433816.1:c.1387A>G, XM_047433812.1:c.2146A>G, XM_047433813.1:c.2128A>G, XM_047433814.1:c.1675A>G, XM_047433817.1:c.901A>G, NP_055948.2:p.Ser716Gly, XP_011520731.1:p.Ser725Gly, XP_011520732.1:p.Ser719Gly, XP_005255247.1:p.Ser702Gly, NP_001305781.1:p.Ser717Gly, NP_001035529.1:p.Ser710Gly, XP_047289771.1:p.Ser557Gly, XP_047289772.1:p.Ser463Gly, XP_047289768.1:p.Ser716Gly, XP_047289769.1:p.Ser710Gly, XP_047289770.1:p.Ser559Gly, XP_047289773.1:p.Ser301Gly

                                      19.

                                      rs1481079667 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        16:1748330 (GRCh38)
                                        16:1798331 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:1748329:G:T
                                        Gene:
                                        MAPK8IP3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.1748330G>T, NC_000016.9:g.1798331G>T, NM_015133.5:c.1078G>T, NM_015133.4:c.1078G>T, NM_015133.3:c.1078G>T, XM_011522429.3:c.1105G>T, XM_011522429.2:c.1105G>T, XM_011522429.1:c.1105G>T, XM_011522430.3:c.1105G>T, XM_011522430.2:c.1105G>T, XM_011522430.1:c.1105G>T, XM_005255190.3:c.1081G>T, XM_005255190.2:c.1081G>T, XM_005255190.1:c.1081G>T, NM_033392.3:c.1078G>T, NM_001318852.2:c.1081G>T, NM_001318852.1:c.1081G>T, NM_001040439.2:c.1078G>T, NM_001040439.1:c.1078G>T, NM_033392.2:c.1078G>T, XM_047433815.1:c.601G>T, XM_047433816.1:c.319G>T, XM_047433812.1:c.1105G>T, XM_047433813.1:c.1105G>T, XM_047433814.1:c.607G>T, NP_055948.2:p.Asp360Tyr, XP_011520731.1:p.Asp369Tyr, XP_011520732.1:p.Asp369Tyr, XP_005255247.1:p.Asp361Tyr, NP_001305781.1:p.Asp361Tyr, NP_001035529.1:p.Asp360Tyr, XP_047289771.1:p.Asp201Tyr, XP_047289772.1:p.Asp107Tyr, XP_047289768.1:p.Asp369Tyr, XP_047289769.1:p.Asp369Tyr, XP_047289770.1:p.Asp203Tyr

                                        20.

                                        rs1480951450 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          16:1761254 (GRCh38)
                                          16:1811255 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:1761253:T:A,NC_000016.10:1761253:T:C
                                          Gene:
                                          MAPK8IP3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000016.10:g.1761254T>A, NC_000016.10:g.1761254T>C, NC_000016.9:g.1811255T>A, NC_000016.9:g.1811255T>C, NM_015133.5:c.1485T>A, NM_015133.5:c.1485T>C, NM_015133.4:c.1485T>A, NM_015133.4:c.1485T>C, NM_015133.3:c.1485T>A, NM_015133.3:c.1485T>C, XM_011522429.3:c.1512T>A, XM_011522429.3:c.1512T>C, XM_011522429.2:c.1512T>A, XM_011522429.2:c.1512T>C, XM_011522429.1:c.1512T>A, XM_011522429.1:c.1512T>C, XM_011522430.3:c.1494T>A, XM_011522430.3:c.1494T>C, XM_011522430.2:c.1494T>A, XM_011522430.2:c.1494T>C, XM_011522430.1:c.1494T>A, XM_011522430.1:c.1494T>C, XM_005255190.3:c.1470T>A, XM_005255190.3:c.1470T>C, XM_005255190.2:c.1470T>A, XM_005255190.2:c.1470T>C, XM_005255190.1:c.1470T>A, XM_005255190.1:c.1470T>C, NM_033392.3:c.1485T>A, NM_033392.3:c.1485T>C, NM_001318852.2:c.1488T>A, NM_001318852.2:c.1488T>C, NM_001318852.1:c.1488T>A, NM_001318852.1:c.1488T>C, NM_001040439.2:c.1467T>A, NM_001040439.2:c.1467T>C, NM_001040439.1:c.1467T>A, NM_001040439.1:c.1467T>C, NM_033392.2:c.1485T>A, NM_033392.2:c.1485T>C, XM_047433815.1:c.1008T>A, XM_047433815.1:c.1008T>C, XM_047433816.1:c.726T>A, XM_047433816.1:c.726T>C, XM_047433812.1:c.1512T>A, XM_047433812.1:c.1512T>C, XM_047433813.1:c.1494T>A, XM_047433813.1:c.1494T>C, XM_047433814.1:c.1014T>A, XM_047433814.1:c.1014T>C, XM_047433817.1:c.240T>A, XM_047433817.1:c.240T>C

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