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Links from Protein

Items: 1 to 20 of 889

1.

rs1490598202 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    14:70761100 (GRCh38)
    14:71227817 (GRCh37)
    Canonical SPDI:
    NC_000014.9:70761099:C:T
    Gene:
    MAP3K9 (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000028/1 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1490596890 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      14:70740020 (GRCh38)
      14:71206737 (GRCh37)
      Canonical SPDI:
      NC_000014.9:70740019:C:A
      Gene:
      MAP3K9 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant
      HGVS:

      3.

      rs1488726343 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:70740082 (GRCh38)
        14:71206799 (GRCh37)
        Canonical SPDI:
        NC_000014.9:70740081:A:G
        Gene:
        MAP3K9 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1485836848 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          14:70748879 (GRCh38)
          14:71215596 (GRCh37)
          Canonical SPDI:
          NC_000014.9:70748878:A:C
          Gene:
          MAP3K9 (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_000014.9:g.70748879A>C, NC_000014.8:g.71215596A>C, XM_005267683.6:c.1276T>G, XM_005267683.5:c.1276T>G, XM_005267683.4:c.1276T>G, XM_005267683.3:c.1276T>G, XM_005267683.2:c.1276T>G, XM_005267683.1:c.1276T>G, XM_011536788.4:c.1276T>G, XM_011536788.3:c.1276T>G, XM_011536788.2:c.1276T>G, XM_011536788.1:c.1276T>G, NM_033141.4:c.1276T>G, NM_033141.3:c.1276T>G, NM_033141.2:c.1276T>G, XM_011536794.3:c.190T>G, XM_011536794.2:c.190T>G, XM_011536794.1:c.190T>G, NM_001284230.2:c.1276T>G, NM_001284230.1:c.1276T>G, XM_011536792.1:c.358T>G, NM_001284231.1:c.487T>G, NM_001284232.1:c.358T>G, XP_005267740.1:p.Trp426Gly, XP_011535090.1:p.Trp426Gly, NP_149132.2:p.Trp426Gly, XP_011535096.1:p.Trp64Gly, NP_001271159.1:p.Trp426Gly, XP_011535094.1:p.Trp120Gly, NP_001271160.1:p.Trp163Gly, NP_001271161.1:p.Trp120Gly

          5.

          rs1485126606 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:70738336 (GRCh38)
            14:71205053 (GRCh37)
            Canonical SPDI:
            NC_000014.9:70738335:C:T
            Gene:
            MAP3K9 (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=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000014.9:g.70738336C>T, NC_000014.8:g.71205053C>T, XM_005267683.6:c.1753G>A, XM_005267683.5:c.1753G>A, XM_005267683.4:c.1753G>A, XM_005267683.3:c.1753G>A, XM_005267683.2:c.1753G>A, XM_005267683.1:c.1753G>A, XM_011536788.4:c.1897G>A, XM_011536788.3:c.1897G>A, XM_011536788.2:c.1897G>A, XM_011536788.1:c.1897G>A, NM_033141.4:c.1753G>A, NM_033141.3:c.1753G>A, NM_033141.2:c.1753G>A, XM_011536794.3:c.811G>A, XM_011536794.2:c.811G>A, XM_011536794.1:c.811G>A, NM_001284230.2:c.1753G>A, NM_001284230.1:c.1753G>A, XM_011536792.1:c.979G>A, NM_001284231.1:c.1108G>A, NM_001284232.1:c.979G>A, XP_005267740.1:p.Glu585Lys, XP_011535090.1:p.Glu633Lys, NP_149132.2:p.Glu585Lys, XP_011535096.1:p.Glu271Lys, NP_001271159.1:p.Glu585Lys, XP_011535094.1:p.Glu327Lys, NP_001271160.1:p.Glu370Lys, NP_001271161.1:p.Glu327Lys

            6.

            rs1484289390 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              14:70730828 (GRCh38)
              14:71197545 (GRCh37)
              Canonical SPDI:
              NC_000014.9:70730827:C:G
              Gene:
              MAP3K9 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000014.9:g.70730828C>G, NC_000014.8:g.71197545C>G, XM_005267683.6:c.2798G>C, XM_005267683.5:c.2798G>C, XM_005267683.4:c.2798G>C, XM_005267683.3:c.2798G>C, XM_005267683.2:c.2798G>C, XM_005267683.1:c.2798G>C, XM_011536788.4:c.3053G>C, XM_011536788.3:c.3053G>C, XM_011536788.2:c.3053G>C, XM_011536788.1:c.3053G>C, NM_033141.4:c.2909G>C, NM_033141.3:c.2909G>C, NM_033141.2:c.2909G>C, XM_011536794.3:c.1967G>C, XM_011536794.2:c.1967G>C, XM_011536794.1:c.1967G>C, NM_001284230.2:c.2867G>C, NM_001284230.1:c.2867G>C, XM_011536792.1:c.2135G>C, NM_001284231.1:c.2195G>C, NM_001284232.1:c.2066G>C, XP_005267740.1:p.Gly933Ala, XP_011535090.1:p.Gly1018Ala, NP_149132.2:p.Gly970Ala, XP_011535096.1:p.Gly656Ala, NP_001271159.1:p.Gly956Ala, XP_011535094.1:p.Gly712Ala, NP_001271160.1:p.Gly732Ala, NP_001271161.1:p.Gly689Ala

              7.

              rs1483868100 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:70730550 (GRCh38)
                14:71197267 (GRCh37)
                Canonical SPDI:
                NC_000014.9:70730549:G:A
                Gene:
                MAP3K9 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.70730550G>A, NC_000014.8:g.71197267G>A, XM_005267683.6:c.3076C>T, XM_005267683.5:c.3076C>T, XM_005267683.4:c.3076C>T, XM_005267683.3:c.3076C>T, XM_005267683.2:c.3076C>T, XM_005267683.1:c.3076C>T, XM_011536788.4:c.3331C>T, XM_011536788.3:c.3331C>T, XM_011536788.2:c.3331C>T, XM_011536788.1:c.3331C>T, NM_033141.4:c.3187C>T, NM_033141.3:c.3187C>T, NM_033141.2:c.3187C>T, XM_011536794.3:c.2245C>T, XM_011536794.2:c.2245C>T, XM_011536794.1:c.2245C>T, NM_001284230.2:c.3145C>T, NM_001284230.1:c.3145C>T, XM_011536792.1:c.2413C>T, NM_001284231.1:c.2473C>T, NM_001284232.1:c.2344C>T, XP_005267740.1:p.Leu1026Phe, XP_011535090.1:p.Leu1111Phe, NP_149132.2:p.Leu1063Phe, XP_011535096.1:p.Leu749Phe, NP_001271159.1:p.Leu1049Phe, XP_011535094.1:p.Leu805Phe, NP_001271160.1:p.Leu825Phe, NP_001271161.1:p.Leu782Phe

                8.

                rs1483855404 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  14:70742588 (GRCh38)
                  14:71209305 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:70742587:G:A,NC_000014.9:70742587:G:T
                  Gene:
                  MAP3K9 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000047/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.70742588G>A, NC_000014.9:g.70742588G>T, NC_000014.8:g.71209305G>A, NC_000014.8:g.71209305G>T, XM_005267683.6:c.1330C>T, XM_005267683.6:c.1330C>A, XM_005267683.5:c.1330C>T, XM_005267683.5:c.1330C>A, XM_005267683.4:c.1330C>T, XM_005267683.4:c.1330C>A, XM_005267683.3:c.1330C>T, XM_005267683.3:c.1330C>A, XM_005267683.2:c.1330C>T, XM_005267683.2:c.1330C>A, XM_005267683.1:c.1330C>T, XM_005267683.1:c.1330C>A, XM_011536788.4:c.1330C>T, XM_011536788.4:c.1330C>A, XM_011536788.3:c.1330C>T, XM_011536788.3:c.1330C>A, XM_011536788.2:c.1330C>T, XM_011536788.2:c.1330C>A, XM_011536788.1:c.1330C>T, XM_011536788.1:c.1330C>A, NM_033141.4:c.1330C>T, NM_033141.4:c.1330C>A, NM_033141.3:c.1330C>T, NM_033141.3:c.1330C>A, NM_033141.2:c.1330C>T, NM_033141.2:c.1330C>A, XM_011536794.3:c.244C>T, XM_011536794.3:c.244C>A, XM_011536794.2:c.244C>T, XM_011536794.2:c.244C>A, XM_011536794.1:c.244C>T, XM_011536794.1:c.244C>A, NM_001284230.2:c.1330C>T, NM_001284230.2:c.1330C>A, NM_001284230.1:c.1330C>T, NM_001284230.1:c.1330C>A, XM_011536792.1:c.412C>T, XM_011536792.1:c.412C>A, NM_001284231.1:c.541C>T, NM_001284231.1:c.541C>A, NM_001284232.1:c.412C>T, NM_001284232.1:c.412C>A, XP_005267740.1:p.Leu444Phe, XP_005267740.1:p.Leu444Ile, XP_011535090.1:p.Leu444Phe, XP_011535090.1:p.Leu444Ile, NP_149132.2:p.Leu444Phe, NP_149132.2:p.Leu444Ile, XP_011535096.1:p.Leu82Phe, XP_011535096.1:p.Leu82Ile, NP_001271159.1:p.Leu444Phe, NP_001271159.1:p.Leu444Ile, XP_011535094.1:p.Leu138Phe, XP_011535094.1:p.Leu138Ile, NP_001271160.1:p.Leu181Phe, NP_001271160.1:p.Leu181Ile, NP_001271161.1:p.Leu138Phe, NP_001271161.1:p.Leu138Ile

                  9.

                  rs1483217886 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    14:70742522 (GRCh38)
                    14:71209239 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:70742521:G:A,NC_000014.9:70742521:G:C
                    Gene:
                    MAP3K9 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000014.9:g.70742522G>A, NC_000014.9:g.70742522G>C, NC_000014.8:g.71209239G>A, NC_000014.8:g.71209239G>C, XM_005267683.6:c.1396C>T, XM_005267683.6:c.1396C>G, XM_005267683.5:c.1396C>T, XM_005267683.5:c.1396C>G, XM_005267683.4:c.1396C>T, XM_005267683.4:c.1396C>G, XM_005267683.3:c.1396C>T, XM_005267683.3:c.1396C>G, XM_005267683.2:c.1396C>T, XM_005267683.2:c.1396C>G, XM_005267683.1:c.1396C>T, XM_005267683.1:c.1396C>G, XM_011536788.4:c.1396C>T, XM_011536788.4:c.1396C>G, XM_011536788.3:c.1396C>T, XM_011536788.3:c.1396C>G, XM_011536788.2:c.1396C>T, XM_011536788.2:c.1396C>G, XM_011536788.1:c.1396C>T, XM_011536788.1:c.1396C>G, NM_033141.4:c.1396C>T, NM_033141.4:c.1396C>G, NM_033141.3:c.1396C>T, NM_033141.3:c.1396C>G, NM_033141.2:c.1396C>T, NM_033141.2:c.1396C>G, XM_011536794.3:c.310C>T, XM_011536794.3:c.310C>G, XM_011536794.2:c.310C>T, XM_011536794.2:c.310C>G, XM_011536794.1:c.310C>T, XM_011536794.1:c.310C>G, NM_001284230.2:c.1396C>T, NM_001284230.2:c.1396C>G, NM_001284230.1:c.1396C>T, NM_001284230.1:c.1396C>G, XM_011536792.1:c.478C>T, XM_011536792.1:c.478C>G, NM_001284231.1:c.607C>T, NM_001284231.1:c.607C>G, NM_001284232.1:c.478C>T, NM_001284232.1:c.478C>G, XP_005267740.1:p.Arg466Trp, XP_005267740.1:p.Arg466Gly, XP_011535090.1:p.Arg466Trp, XP_011535090.1:p.Arg466Gly, NP_149132.2:p.Arg466Trp, NP_149132.2:p.Arg466Gly, XP_011535096.1:p.Arg104Trp, XP_011535096.1:p.Arg104Gly, NP_001271159.1:p.Arg466Trp, NP_001271159.1:p.Arg466Gly, XP_011535094.1:p.Arg160Trp, XP_011535094.1:p.Arg160Gly, NP_001271160.1:p.Arg203Trp, NP_001271160.1:p.Arg203Gly, NP_001271161.1:p.Arg160Trp, NP_001271161.1:p.Arg160Gly

                    10.

                    rs1482976231 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      14:70730852 (GRCh38)
                      14:71197569 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:70730851:G:C
                      Gene:
                      MAP3K9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000014.9:g.70730852G>C, NC_000014.8:g.71197569G>C, XM_005267683.6:c.2774C>G, XM_005267683.5:c.2774C>G, XM_005267683.4:c.2774C>G, XM_005267683.3:c.2774C>G, XM_005267683.2:c.2774C>G, XM_005267683.1:c.2774C>G, XM_011536788.4:c.3029C>G, XM_011536788.3:c.3029C>G, XM_011536788.2:c.3029C>G, XM_011536788.1:c.3029C>G, NM_033141.4:c.2885C>G, NM_033141.3:c.2885C>G, NM_033141.2:c.2885C>G, XM_011536794.3:c.1943C>G, XM_011536794.2:c.1943C>G, XM_011536794.1:c.1943C>G, NM_001284230.2:c.2843C>G, NM_001284230.1:c.2843C>G, XM_011536792.1:c.2111C>G, NM_001284231.1:c.2171C>G, NM_001284232.1:c.2042C>G, XP_005267740.1:p.Thr925Ser, XP_011535090.1:p.Thr1010Ser, NP_149132.2:p.Thr962Ser, XP_011535096.1:p.Thr648Ser, NP_001271159.1:p.Thr948Ser, XP_011535094.1:p.Thr704Ser, NP_001271160.1:p.Thr724Ser, NP_001271161.1:p.Thr681Ser

                      11.

                      rs1480686438 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:70765462 (GRCh38)
                        14:71232179 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:70765461:G:A
                        Gene:
                        MAP3K9 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000016/2 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1480665308 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:70748913 (GRCh38)
                          14:71215630 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:70748912:C:T
                          Gene:
                          MAP3K9 (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=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000014.9:g.70748913C>T, NC_000014.8:g.71215630C>T, XM_005267683.6:c.1242G>A, XM_005267683.5:c.1242G>A, XM_005267683.4:c.1242G>A, XM_005267683.3:c.1242G>A, XM_005267683.2:c.1242G>A, XM_005267683.1:c.1242G>A, XM_011536788.4:c.1242G>A, XM_011536788.3:c.1242G>A, XM_011536788.2:c.1242G>A, XM_011536788.1:c.1242G>A, NM_033141.4:c.1242G>A, NM_033141.3:c.1242G>A, NM_033141.2:c.1242G>A, XM_011536794.3:c.156G>A, XM_011536794.2:c.156G>A, XM_011536794.1:c.156G>A, NM_001284230.2:c.1242G>A, NM_001284230.1:c.1242G>A, XM_011536792.1:c.324G>A, NM_001284231.1:c.453G>A, NM_001284232.1:c.324G>A, XP_005267740.1:p.Met414Ile, XP_011535090.1:p.Met414Ile, NP_149132.2:p.Met414Ile, XP_011535096.1:p.Met52Ile, NP_001271159.1:p.Met414Ile, XP_011535094.1:p.Met108Ile, NP_001271160.1:p.Met151Ile, NP_001271161.1:p.Met108Ile

                          13.

                          rs1479516134 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:70732552 (GRCh38)
                            14:71199269 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:70732551:G:A
                            Gene:
                            MAP3K9 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1479227792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              14:70738245 (GRCh38)
                              14:71204962 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:70738244:C:G
                              Gene:
                              MAP3K9 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000014.9:g.70738245C>G, NC_000014.8:g.71204962C>G, XM_005267683.6:c.1844G>C, XM_005267683.5:c.1844G>C, XM_005267683.4:c.1844G>C, XM_005267683.3:c.1844G>C, XM_005267683.2:c.1844G>C, XM_005267683.1:c.1844G>C, XM_011536788.4:c.1988G>C, XM_011536788.3:c.1988G>C, XM_011536788.2:c.1988G>C, XM_011536788.1:c.1988G>C, NM_033141.4:c.1844G>C, NM_033141.3:c.1844G>C, NM_033141.2:c.1844G>C, XM_011536794.3:c.902G>C, XM_011536794.2:c.902G>C, XM_011536794.1:c.902G>C, NM_001284230.2:c.1844G>C, NM_001284230.1:c.1844G>C, XM_011536792.1:c.1070G>C, NM_001284231.1:c.1199G>C, NM_001284232.1:c.1070G>C, XP_005267740.1:p.Gly615Ala, XP_011535090.1:p.Gly663Ala, NP_149132.2:p.Gly615Ala, XP_011535096.1:p.Gly301Ala, NP_001271159.1:p.Gly615Ala, XP_011535094.1:p.Gly357Ala, NP_001271160.1:p.Gly400Ala, NP_001271161.1:p.Gly357Ala

                              15.

                              rs1478655069 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                14:70740000 (GRCh38)
                                14:71206717 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:70739999:C:T
                                Gene:
                                MAP3K9 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1477604048 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  14:70765449 (GRCh38)
                                  14:71232166 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:70765448:A:T
                                  Gene:
                                  MAP3K9 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000008/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1477358816 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    14:70732770 (GRCh38)
                                    14:71199487 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:70732769:C:G
                                    Gene:
                                    MAP3K9 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.70732770C>G, NC_000014.8:g.71199487C>G, XM_005267683.6:c.2530G>C, XM_005267683.5:c.2530G>C, XM_005267683.4:c.2530G>C, XM_005267683.3:c.2530G>C, XM_005267683.2:c.2530G>C, XM_005267683.1:c.2530G>C, XM_011536788.4:c.2785G>C, XM_011536788.3:c.2785G>C, XM_011536788.2:c.2785G>C, XM_011536788.1:c.2785G>C, NM_033141.4:c.2641G>C, NM_033141.3:c.2641G>C, NM_033141.2:c.2641G>C, XM_011536794.3:c.1699G>C, XM_011536794.2:c.1699G>C, XM_011536794.1:c.1699G>C, NM_001284230.2:c.2599G>C, NM_001284230.1:c.2599G>C, XM_011536792.1:c.1867G>C, NM_001284231.1:c.1927G>C, NM_001284232.1:c.1798G>C, XP_005267740.1:p.Val844Leu, XP_011535090.1:p.Val929Leu, NP_149132.2:p.Val881Leu, XP_011535096.1:p.Val567Leu, NP_001271159.1:p.Val867Leu, XP_011535094.1:p.Val623Leu, NP_001271160.1:p.Val643Leu, NP_001271161.1:p.Val600Leu

                                    18.

                                    rs1477205879 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:70730557 (GRCh38)
                                      14:71197274 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:70730556:C:T
                                      Gene:
                                      MAP3K9 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1477069784 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:70742476 (GRCh38)
                                        14:71209193 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:70742475:T:C
                                        Gene:
                                        MAP3K9 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.70742476T>C, NC_000014.8:g.71209193T>C, XM_005267683.6:c.1442A>G, XM_005267683.5:c.1442A>G, XM_005267683.4:c.1442A>G, XM_005267683.3:c.1442A>G, XM_005267683.2:c.1442A>G, XM_005267683.1:c.1442A>G, XM_011536788.4:c.1442A>G, XM_011536788.3:c.1442A>G, XM_011536788.2:c.1442A>G, XM_011536788.1:c.1442A>G, NM_033141.4:c.1442A>G, NM_033141.3:c.1442A>G, NM_033141.2:c.1442A>G, XM_011536794.3:c.356A>G, XM_011536794.2:c.356A>G, XM_011536794.1:c.356A>G, NM_001284230.2:c.1442A>G, NM_001284230.1:c.1442A>G, XM_011536792.1:c.524A>G, NM_001284231.1:c.653A>G, NM_001284232.1:c.524A>G, XP_005267740.1:p.Glu481Gly, XP_011535090.1:p.Glu481Gly, NP_149132.2:p.Glu481Gly, XP_011535096.1:p.Glu119Gly, NP_001271159.1:p.Glu481Gly, XP_011535094.1:p.Glu175Gly, NP_001271160.1:p.Glu218Gly, NP_001271161.1:p.Glu175Gly

                                        20.

                                        rs1475710727 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          14:70733264 (GRCh38)
                                          14:71199981 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:70733263:G:C
                                          Gene:
                                          MAP3K9 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.70733264G>C, NC_000014.8:g.71199981G>C, XM_005267683.6:c.2036C>G, XM_005267683.5:c.2036C>G, XM_005267683.4:c.2036C>G, XM_005267683.3:c.2036C>G, XM_005267683.2:c.2036C>G, XM_005267683.1:c.2036C>G, XM_011536788.4:c.2291C>G, XM_011536788.3:c.2291C>G, XM_011536788.2:c.2291C>G, XM_011536788.1:c.2291C>G, NM_033141.4:c.2147C>G, NM_033141.3:c.2147C>G, NM_033141.2:c.2147C>G, XM_011536794.3:c.1205C>G, XM_011536794.2:c.1205C>G, XM_011536794.1:c.1205C>G, NM_001284230.2:c.2105C>G, NM_001284230.1:c.2105C>G, XM_011536792.1:c.1373C>G, NM_001284231.1:c.1433C>G, NM_001284232.1:c.1304C>G, XP_005267740.1:p.Pro679Arg, XP_011535090.1:p.Pro764Arg, NP_149132.2:p.Pro716Arg, XP_011535096.1:p.Pro402Arg, NP_001271159.1:p.Pro702Arg, XP_011535094.1:p.Pro458Arg, NP_001271160.1:p.Pro478Arg, NP_001271161.1:p.Pro435Arg

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