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Items: 1 to 20 of 413

1.

rs1489605167 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    14:104773962 (GRCh38)
    14:105240299 (GRCh37)
    Canonical SPDI:
    NC_000014.9:104773961:G:A
    Gene:
    AKT1 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained
    HGVS:
    NC_000014.9:g.104773962G>A, NC_000014.8:g.105240299G>A, NG_012188.1:g.26783C>T, NM_005163.2:c.652C>T, NM_001014432.2:c.652C>T, NM_001014432.1:c.652C>T, NM_001014431.2:c.652C>T, NM_001014431.1:c.652C>T, NM_001382433.1:c.652C>T, NM_001382432.1:c.652C>T, NM_001382430.1:c.652C>T, NM_001382431.1:c.652C>T, XM_047431074.1:c.652C>T, XM_047431069.1:c.652C>T, XM_047431073.1:c.652C>T, XM_047431070.1:c.652C>T, XM_047431071.1:c.652C>T, XM_047431072.1:c.652C>T, XM_047431075.1:c.652C>T, NP_005154.2:p.Gln218Ter, NP_001014432.1:p.Gln218Ter, NP_001014431.1:p.Gln218Ter, NP_001369362.1:p.Gln218Ter, NP_001369361.1:p.Gln218Ter, NP_001369359.1:p.Gln218Ter, NP_001369360.1:p.Gln218Ter, XP_047287030.1:p.Gln218Ter, XP_047287025.1:p.Gln218Ter, XP_047287029.1:p.Gln218Ter, XP_047287026.1:p.Gln218Ter, XP_047287027.1:p.Gln218Ter, XP_047287028.1:p.Gln218Ter, XP_047287031.1:p.Gln218Ter

    2.

    rs1489572550 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      14:104773042 (GRCh38)
      14:105239379 (GRCh37)
      Canonical SPDI:
      NC_000014.9:104773041:G:A,NC_000014.9:104773041:G:C
      Gene:
      AKT1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000011/3 (TOPMED)
      HGVS:
      NC_000014.9:g.104773042G>A, NC_000014.9:g.104773042G>C, NC_000014.8:g.105239379G>A, NC_000014.8:g.105239379G>C, NG_012188.1:g.27703C>T, NG_012188.1:g.27703C>G, NM_005163.2:c.1008C>T, NM_005163.2:c.1008C>G, NM_001014432.2:c.1008C>T, NM_001014432.2:c.1008C>G, NM_001014432.1:c.1008C>T, NM_001014432.1:c.1008C>G, NM_001014431.2:c.1008C>T, NM_001014431.2:c.1008C>G, NM_001014431.1:c.1008C>T, NM_001014431.1:c.1008C>G, NM_001382433.1:c.1008C>T, NM_001382433.1:c.1008C>G, NM_001382432.1:c.1008C>T, NM_001382432.1:c.1008C>G, NM_001382430.1:c.1008C>T, NM_001382430.1:c.1008C>G, NM_001382431.1:c.1008C>T, NM_001382431.1:c.1008C>G, XM_047431074.1:c.1008C>T, XM_047431074.1:c.1008C>G, XM_047431069.1:c.1008C>T, XM_047431069.1:c.1008C>G, XM_047431073.1:c.1008C>T, XM_047431073.1:c.1008C>G, XM_047431070.1:c.1008C>T, XM_047431070.1:c.1008C>G, XM_047431071.1:c.1008C>T, XM_047431071.1:c.1008C>G, XM_047431072.1:c.1008C>T, XM_047431072.1:c.1008C>G, XM_047431075.1:c.1008C>T, XM_047431075.1:c.1008C>G

      3.

      rs1489436033 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:104773572 (GRCh38)
        14:105239909 (GRCh37)
        Canonical SPDI:
        NC_000014.9:104773571:G:A
        Gene:
        AKT1 (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)
        HGVS:

        4.

        rs1487193981 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          14:104773491 (GRCh38)
          14:105239828 (GRCh37)
          Canonical SPDI:
          NC_000014.9:104773490:C:A,NC_000014.9:104773490:C:T
          Gene:
          AKT1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000014.9:g.104773491C>A, NC_000014.9:g.104773491C>T, NC_000014.8:g.105239828C>A, NC_000014.8:g.105239828C>T, NG_012188.1:g.27254G>T, NG_012188.1:g.27254G>A, NM_005163.2:c.792G>T, NM_005163.2:c.792G>A, NM_001014432.2:c.792G>T, NM_001014432.2:c.792G>A, NM_001014432.1:c.792G>T, NM_001014432.1:c.792G>A, NM_001014431.2:c.792G>T, NM_001014431.2:c.792G>A, NM_001014431.1:c.792G>T, NM_001014431.1:c.792G>A, NM_001382433.1:c.792G>T, NM_001382433.1:c.792G>A, NM_001382432.1:c.792G>T, NM_001382432.1:c.792G>A, NM_001382430.1:c.792G>T, NM_001382430.1:c.792G>A, NM_001382431.1:c.792G>T, NM_001382431.1:c.792G>A, XM_047431074.1:c.792G>T, XM_047431074.1:c.792G>A, XM_047431069.1:c.792G>T, XM_047431069.1:c.792G>A, XM_047431073.1:c.792G>T, XM_047431073.1:c.792G>A, XM_047431070.1:c.792G>T, XM_047431070.1:c.792G>A, XM_047431071.1:c.792G>T, XM_047431071.1:c.792G>A, XM_047431072.1:c.792G>T, XM_047431072.1:c.792G>A, XM_047431075.1:c.792G>T, XM_047431075.1:c.792G>A

          5.

          rs1480573852 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:104772920 (GRCh38)
            14:105239257 (GRCh37)
            Canonical SPDI:
            NC_000014.9:104772919:T:C
            Gene:
            AKT1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Clinical significance:
            uncertain-significance
            HGVS:
            NC_000014.9:g.104772920T>C, NC_000014.8:g.105239257T>C, NG_012188.1:g.27825A>G, NM_005163.2:c.1130A>G, NM_001014432.2:c.1130A>G, NM_001014432.1:c.1130A>G, NM_001014431.2:c.1130A>G, NM_001014431.1:c.1130A>G, NM_001382433.1:c.1130A>G, NM_001382432.1:c.1130A>G, NM_001382430.1:c.1130A>G, NM_001382431.1:c.1130A>G, XM_047431074.1:c.1130A>G, XM_047431069.1:c.1130A>G, XM_047431073.1:c.1130A>G, XM_047431070.1:c.1130A>G, XM_047431071.1:c.1130A>G, XM_047431072.1:c.1130A>G, XM_047431075.1:c.1130A>G, NP_005154.2:p.Lys377Arg, NP_001014432.1:p.Lys377Arg, NP_001014431.1:p.Lys377Arg, NP_001369362.1:p.Lys377Arg, NP_001369361.1:p.Lys377Arg, NP_001369359.1:p.Lys377Arg, NP_001369360.1:p.Lys377Arg, XP_047287030.1:p.Lys377Arg, XP_047287025.1:p.Lys377Arg, XP_047287029.1:p.Lys377Arg, XP_047287026.1:p.Lys377Arg, XP_047287027.1:p.Lys377Arg, XP_047287028.1:p.Lys377Arg, XP_047287031.1:p.Lys377Arg

            6.

            rs1476861882 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              14:104780109 (GRCh38)
              14:105246446 (GRCh37)
              Canonical SPDI:
              NC_000014.9:104780108:G:A,NC_000014.9:104780108:G:C,NC_000014.9:104780108:G:T
              Gene:
              AKT1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000014.9:g.104780109G>A, NC_000014.9:g.104780109G>C, NC_000014.9:g.104780109G>T, NC_000014.8:g.105246446G>A, NC_000014.8:g.105246446G>C, NC_000014.8:g.105246446G>T, NG_012188.1:g.20636C>T, NG_012188.1:g.20636C>G, NG_012188.1:g.20636C>A, NM_005163.2:c.154C>T, NM_005163.2:c.154C>G, NM_005163.2:c.154C>A, NM_001014432.2:c.154C>T, NM_001014432.2:c.154C>G, NM_001014432.2:c.154C>A, NM_001014432.1:c.154C>T, NM_001014432.1:c.154C>G, NM_001014432.1:c.154C>A, NM_001014431.2:c.154C>T, NM_001014431.2:c.154C>G, NM_001014431.2:c.154C>A, NM_001014431.1:c.154C>T, NM_001014431.1:c.154C>G, NM_001014431.1:c.154C>A, NM_001382433.1:c.154C>T, NM_001382433.1:c.154C>G, NM_001382433.1:c.154C>A, NM_001382432.1:c.154C>T, NM_001382432.1:c.154C>G, NM_001382432.1:c.154C>A, NM_001382430.1:c.154C>T, NM_001382430.1:c.154C>G, NM_001382430.1:c.154C>A, NM_001382431.1:c.154C>T, NM_001382431.1:c.154C>G, NM_001382431.1:c.154C>A, XM_047431074.1:c.154C>T, XM_047431074.1:c.154C>G, XM_047431074.1:c.154C>A, XM_047431069.1:c.154C>T, XM_047431069.1:c.154C>G, XM_047431069.1:c.154C>A, XM_047431073.1:c.154C>T, XM_047431073.1:c.154C>G, XM_047431073.1:c.154C>A, XM_047431070.1:c.154C>T, XM_047431070.1:c.154C>G, XM_047431070.1:c.154C>A, XM_047431071.1:c.154C>T, XM_047431071.1:c.154C>G, XM_047431071.1:c.154C>A, XM_047431072.1:c.154C>T, XM_047431072.1:c.154C>G, XM_047431072.1:c.154C>A, XM_047431075.1:c.154C>T, XM_047431075.1:c.154C>G, XM_047431075.1:c.154C>A, NP_005154.2:p.Leu52Phe, NP_005154.2:p.Leu52Val, NP_005154.2:p.Leu52Ile, NP_001014432.1:p.Leu52Phe, NP_001014432.1:p.Leu52Val, NP_001014432.1:p.Leu52Ile, NP_001014431.1:p.Leu52Phe, NP_001014431.1:p.Leu52Val, NP_001014431.1:p.Leu52Ile, NP_001369362.1:p.Leu52Phe, NP_001369362.1:p.Leu52Val, NP_001369362.1:p.Leu52Ile, NP_001369361.1:p.Leu52Phe, NP_001369361.1:p.Leu52Val, NP_001369361.1:p.Leu52Ile, NP_001369359.1:p.Leu52Phe, NP_001369359.1:p.Leu52Val, NP_001369359.1:p.Leu52Ile, NP_001369360.1:p.Leu52Phe, NP_001369360.1:p.Leu52Val, NP_001369360.1:p.Leu52Ile, XP_047287030.1:p.Leu52Phe, XP_047287030.1:p.Leu52Val, XP_047287030.1:p.Leu52Ile, XP_047287025.1:p.Leu52Phe, XP_047287025.1:p.Leu52Val, XP_047287025.1:p.Leu52Ile, XP_047287029.1:p.Leu52Phe, XP_047287029.1:p.Leu52Val, XP_047287029.1:p.Leu52Ile, XP_047287026.1:p.Leu52Phe, XP_047287026.1:p.Leu52Val, XP_047287026.1:p.Leu52Ile, XP_047287027.1:p.Leu52Phe, XP_047287027.1:p.Leu52Val, XP_047287027.1:p.Leu52Ile, XP_047287028.1:p.Leu52Phe, XP_047287028.1:p.Leu52Val, XP_047287028.1:p.Leu52Ile, XP_047287031.1:p.Leu52Phe, XP_047287031.1:p.Leu52Val, XP_047287031.1:p.Leu52Ile

              7.

              rs1471154736 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                14:104792617 (GRCh38)
                14:105258954 (GRCh37)
                Canonical SPDI:
                NC_000014.9:104792616:C:A,NC_000014.9:104792616:C:T
                Gene:
                AKT1 (Varview)
                Functional Consequence:
                synonymous_variant,missense_variant,coding_sequence_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_000014.9:g.104792617C>A, NC_000014.9:g.104792617C>T, NC_000014.8:g.105258954C>A, NC_000014.8:g.105258954C>T, NG_012188.1:g.8128G>T, NG_012188.1:g.8128G>A, NM_005163.2:c.27G>T, NM_005163.2:c.27G>A, NM_001014432.2:c.27G>T, NM_001014432.2:c.27G>A, NM_001014432.1:c.27G>T, NM_001014432.1:c.27G>A, NM_001014431.2:c.27G>T, NM_001014431.2:c.27G>A, NM_001014431.1:c.27G>T, NM_001014431.1:c.27G>A, NM_001382433.1:c.27G>T, NM_001382433.1:c.27G>A, NM_001382432.1:c.27G>T, NM_001382432.1:c.27G>A, NM_001382430.1:c.27G>T, NM_001382430.1:c.27G>A, NM_001382431.1:c.27G>T, NM_001382431.1:c.27G>A, XM_047431074.1:c.27G>T, XM_047431074.1:c.27G>A, XM_047431069.1:c.27G>T, XM_047431069.1:c.27G>A, XM_047431073.1:c.27G>T, XM_047431073.1:c.27G>A, XM_047431070.1:c.27G>T, XM_047431070.1:c.27G>A, XM_047431071.1:c.27G>T, XM_047431071.1:c.27G>A, XM_047431072.1:c.27G>T, XM_047431072.1:c.27G>A, XM_047431075.1:c.27G>T, XM_047431075.1:c.27G>A, NP_005154.2:p.Glu9Asp, NP_001014432.1:p.Glu9Asp, NP_001014431.1:p.Glu9Asp, NP_001369362.1:p.Glu9Asp, NP_001369361.1:p.Glu9Asp, NP_001369359.1:p.Glu9Asp, NP_001369360.1:p.Glu9Asp, XP_047287030.1:p.Glu9Asp, XP_047287025.1:p.Glu9Asp, XP_047287029.1:p.Glu9Asp, XP_047287026.1:p.Glu9Asp, XP_047287027.1:p.Glu9Asp, XP_047287028.1:p.Glu9Asp, XP_047287031.1:p.Glu9Asp

                8.

                rs1469878034 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:104792629 (GRCh38)
                  14:105258966 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:104792628:A:G
                  Gene:
                  AKT1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1468001776 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    14:104772376 (GRCh38)
                    14:105238713 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:104772375:A:C
                    Gene:
                    AKT1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.104772376A>C, NC_000014.8:g.105238713A>C, NG_012188.1:g.28369T>G, NM_005163.2:c.1249T>G, NM_001014432.2:c.1249T>G, NM_001014432.1:c.1249T>G, NM_001014431.2:c.1249T>G, NM_001014431.1:c.1249T>G, NM_001382433.1:c.1249T>G, NM_001382432.1:c.1249T>G, NM_001382430.1:c.1249T>G, NM_001382431.1:c.1249T>G, XM_047431074.1:c.1249T>G, XM_047431069.1:c.1249T>G, XM_047431073.1:c.1249T>G, XM_047431070.1:c.1249T>G, XM_047431071.1:c.1249T>G, XM_047431072.1:c.1249T>G, XM_047431075.1:c.1249T>G, NP_005154.2:p.Tyr417Asp, NP_001014432.1:p.Tyr417Asp, NP_001014431.1:p.Tyr417Asp, NP_001369362.1:p.Tyr417Asp, NP_001369361.1:p.Tyr417Asp, NP_001369359.1:p.Tyr417Asp, NP_001369360.1:p.Tyr417Asp, XP_047287030.1:p.Tyr417Asp, XP_047287025.1:p.Tyr417Asp, XP_047287029.1:p.Tyr417Asp, XP_047287026.1:p.Tyr417Asp, XP_047287027.1:p.Tyr417Asp, XP_047287028.1:p.Tyr417Asp, XP_047287031.1:p.Tyr417Asp

                    10.

                    rs1467679399 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      14:104773470 (GRCh38)
                      14:105239807 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:104773469:C:T
                      Gene:
                      AKT1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000111/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000546/1 (Korea1K)
                      HGVS:

                      11.

                      rs1467510263 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:104770357 (GRCh38)
                        14:105236694 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:104770356:G:A
                        Gene:
                        AKT1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by cluster
                        HGVS:
                        NC_000014.9:g.104770357G>A, NC_000014.8:g.105236694G>A, NG_012188.1:g.30388C>T, NM_005163.2:c.1427C>T, NM_001014432.2:c.1427C>T, NM_001014432.1:c.1427C>T, NM_001014431.2:c.1427C>T, NM_001014431.1:c.1427C>T, NM_001382433.1:c.1427C>T, NM_001382432.1:c.1427C>T, NM_001382430.1:c.1427C>T, NM_001382431.1:c.1427C>T, XM_047431074.1:c.1427C>T, XM_047431069.1:c.1427C>T, XM_047431073.1:c.1427C>T, XM_047431070.1:c.1427C>T, XM_047431071.1:c.1427C>T, XM_047431072.1:c.1427C>T, XM_047431075.1:c.1427C>T, NP_005154.2:p.Ala476Val, NP_001014432.1:p.Ala476Val, NP_001014431.1:p.Ala476Val, NP_001369362.1:p.Ala476Val, NP_001369361.1:p.Ala476Val, NP_001369359.1:p.Ala476Val, NP_001369360.1:p.Ala476Val, XP_047287030.1:p.Ala476Val, XP_047287025.1:p.Ala476Val, XP_047287029.1:p.Ala476Val, XP_047287026.1:p.Ala476Val, XP_047287027.1:p.Ala476Val, XP_047287028.1:p.Ala476Val, XP_047287031.1:p.Ala476Val

                        12.

                        rs1463613919 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:104773326 (GRCh38)
                          14:105239663 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:104773325:C:T
                          Gene:
                          AKT1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1462219795 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:104774972 (GRCh38)
                            14:105241309 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:104774971:C:T
                            Gene:
                            AKT1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000047/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000014.9:g.104774972C>T, NC_000014.8:g.105241309C>T, NG_012188.1:g.25773G>A, NM_005163.2:c.599G>A, NM_001014432.2:c.599G>A, NM_001014432.1:c.599G>A, NM_001014431.2:c.599G>A, NM_001014431.1:c.599G>A, NM_001382433.1:c.599G>A, NM_001382432.1:c.599G>A, NM_001382430.1:c.599G>A, NM_001382431.1:c.599G>A, XM_047431074.1:c.599G>A, XM_047431069.1:c.599G>A, XM_047431073.1:c.599G>A, XM_047431070.1:c.599G>A, XM_047431071.1:c.599G>A, XM_047431072.1:c.599G>A, XM_047431075.1:c.599G>A, NP_005154.2:p.Arg200His, NP_001014432.1:p.Arg200His, NP_001014431.1:p.Arg200His, NP_001369362.1:p.Arg200His, NP_001369361.1:p.Arg200His, NP_001369359.1:p.Arg200His, NP_001369360.1:p.Arg200His, XP_047287030.1:p.Arg200His, XP_047287025.1:p.Arg200His, XP_047287029.1:p.Arg200His, XP_047287026.1:p.Arg200His, XP_047287027.1:p.Arg200His, XP_047287028.1:p.Arg200His, XP_047287031.1:p.Arg200His

                            14.

                            rs1461489974 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C,G [Show Flanks]
                              Chromosome:
                              14:104775127 (GRCh38)
                              14:105241464 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:104775126:T:A,NC_000014.9:104775126:T:C,NC_000014.9:104775126:T:G
                              Gene:
                              AKT1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000014.9:g.104775127T>A, NC_000014.9:g.104775127T>C, NC_000014.9:g.104775127T>G, NC_000014.8:g.105241464T>A, NC_000014.8:g.105241464T>C, NC_000014.8:g.105241464T>G, NG_012188.1:g.25618A>T, NG_012188.1:g.25618A>G, NG_012188.1:g.25618A>C, NM_005163.2:c.516A>T, NM_005163.2:c.516A>G, NM_005163.2:c.516A>C, NM_001014432.2:c.516A>T, NM_001014432.2:c.516A>G, NM_001014432.2:c.516A>C, NM_001014432.1:c.516A>T, NM_001014432.1:c.516A>G, NM_001014432.1:c.516A>C, NM_001014431.2:c.516A>T, NM_001014431.2:c.516A>G, NM_001014431.2:c.516A>C, NM_001014431.1:c.516A>T, NM_001014431.1:c.516A>G, NM_001014431.1:c.516A>C, NM_001382433.1:c.516A>T, NM_001382433.1:c.516A>G, NM_001382433.1:c.516A>C, NM_001382432.1:c.516A>T, NM_001382432.1:c.516A>G, NM_001382432.1:c.516A>C, NM_001382430.1:c.516A>T, NM_001382430.1:c.516A>G, NM_001382430.1:c.516A>C, NM_001382431.1:c.516A>T, NM_001382431.1:c.516A>G, NM_001382431.1:c.516A>C, XM_047431074.1:c.516A>T, XM_047431074.1:c.516A>G, XM_047431074.1:c.516A>C, XM_047431069.1:c.516A>T, XM_047431069.1:c.516A>G, XM_047431069.1:c.516A>C, XM_047431073.1:c.516A>T, XM_047431073.1:c.516A>G, XM_047431073.1:c.516A>C, XM_047431070.1:c.516A>T, XM_047431070.1:c.516A>G, XM_047431070.1:c.516A>C, XM_047431071.1:c.516A>T, XM_047431071.1:c.516A>G, XM_047431071.1:c.516A>C, XM_047431072.1:c.516A>T, XM_047431072.1:c.516A>G, XM_047431072.1:c.516A>C, XM_047431075.1:c.516A>T, XM_047431075.1:c.516A>G, XM_047431075.1:c.516A>C

                              15.

                              rs1459853850 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                14:104773075 (GRCh38)
                                14:105239412 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:104773074:G:A,NC_000014.9:104773074:G:C
                                Gene:
                                AKT1 (Varview)
                                Functional Consequence:
                                synonymous_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.104773075G>A, NC_000014.9:g.104773075G>C, NC_000014.8:g.105239412G>A, NC_000014.8:g.105239412G>C, NG_012188.1:g.27670C>T, NG_012188.1:g.27670C>G, NM_005163.2:c.975C>T, NM_005163.2:c.975C>G, NM_001014432.2:c.975C>T, NM_001014432.2:c.975C>G, NM_001014432.1:c.975C>T, NM_001014432.1:c.975C>G, NM_001014431.2:c.975C>T, NM_001014431.2:c.975C>G, NM_001014431.1:c.975C>T, NM_001014431.1:c.975C>G, NM_001382433.1:c.975C>T, NM_001382433.1:c.975C>G, NM_001382432.1:c.975C>T, NM_001382432.1:c.975C>G, NM_001382430.1:c.975C>T, NM_001382430.1:c.975C>G, NM_001382431.1:c.975C>T, NM_001382431.1:c.975C>G, XM_047431074.1:c.975C>T, XM_047431074.1:c.975C>G, XM_047431069.1:c.975C>T, XM_047431069.1:c.975C>G, XM_047431073.1:c.975C>T, XM_047431073.1:c.975C>G, XM_047431070.1:c.975C>T, XM_047431070.1:c.975C>G, XM_047431071.1:c.975C>T, XM_047431071.1:c.975C>G, XM_047431072.1:c.975C>T, XM_047431072.1:c.975C>G, XM_047431075.1:c.975C>T, XM_047431075.1:c.975C>G, NP_005154.2:p.Asp325Glu, NP_001014432.1:p.Asp325Glu, NP_001014431.1:p.Asp325Glu, NP_001369362.1:p.Asp325Glu, NP_001369361.1:p.Asp325Glu, NP_001369359.1:p.Asp325Glu, NP_001369360.1:p.Asp325Glu, XP_047287030.1:p.Asp325Glu, XP_047287025.1:p.Asp325Glu, XP_047287029.1:p.Asp325Glu, XP_047287026.1:p.Asp325Glu, XP_047287027.1:p.Asp325Glu, XP_047287028.1:p.Asp325Glu, XP_047287031.1:p.Asp325Glu

                                16.

                                rs1458420660 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  14:104773538 (GRCh38)
                                  14:105239875 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:104773537:G:A,NC_000014.9:104773537:G:T
                                  Gene:
                                  AKT1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.104773538G>A, NC_000014.9:g.104773538G>T, NC_000014.8:g.105239875G>A, NC_000014.8:g.105239875G>T, NG_012188.1:g.27207C>T, NG_012188.1:g.27207C>A, NM_005163.2:c.745C>T, NM_005163.2:c.745C>A, NM_001014432.2:c.745C>T, NM_001014432.2:c.745C>A, NM_001014432.1:c.745C>T, NM_001014432.1:c.745C>A, NM_001014431.2:c.745C>T, NM_001014431.2:c.745C>A, NM_001014431.1:c.745C>T, NM_001014431.1:c.745C>A, NM_001382433.1:c.745C>T, NM_001382433.1:c.745C>A, NM_001382432.1:c.745C>T, NM_001382432.1:c.745C>A, NM_001382430.1:c.745C>T, NM_001382430.1:c.745C>A, NM_001382431.1:c.745C>T, NM_001382431.1:c.745C>A, XM_047431074.1:c.745C>T, XM_047431074.1:c.745C>A, XM_047431069.1:c.745C>T, XM_047431069.1:c.745C>A, XM_047431073.1:c.745C>T, XM_047431073.1:c.745C>A, XM_047431070.1:c.745C>T, XM_047431070.1:c.745C>A, XM_047431071.1:c.745C>T, XM_047431071.1:c.745C>A, XM_047431072.1:c.745C>T, XM_047431072.1:c.745C>A, XM_047431075.1:c.745C>T, XM_047431075.1:c.745C>A, NP_005154.2:p.Arg249Trp, NP_001014432.1:p.Arg249Trp, NP_001014431.1:p.Arg249Trp, NP_001369362.1:p.Arg249Trp, NP_001369361.1:p.Arg249Trp, NP_001369359.1:p.Arg249Trp, NP_001369360.1:p.Arg249Trp, XP_047287030.1:p.Arg249Trp, XP_047287025.1:p.Arg249Trp, XP_047287029.1:p.Arg249Trp, XP_047287026.1:p.Arg249Trp, XP_047287027.1:p.Arg249Trp, XP_047287028.1:p.Arg249Trp, XP_047287031.1:p.Arg249Trp

                                  17.

                                  rs1457484217 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    14:104775725 (GRCh38)
                                    14:105242062 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:104775724:C:A,NC_000014.9:104775724:C:T
                                    Gene:
                                    AKT1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000029/4 (GnomAD)
                                    HGVS:
                                    NC_000014.9:g.104775725C>A, NC_000014.9:g.104775725C>T, NC_000014.8:g.105242062C>A, NC_000014.8:g.105242062C>T, NG_012188.1:g.25020G>T, NG_012188.1:g.25020G>A, NM_005163.2:c.362G>T, NM_005163.2:c.362G>A, NM_001014432.2:c.362G>T, NM_001014432.2:c.362G>A, NM_001014432.1:c.362G>T, NM_001014432.1:c.362G>A, NM_001014431.2:c.362G>T, NM_001014431.2:c.362G>A, NM_001014431.1:c.362G>T, NM_001014431.1:c.362G>A, NM_001382433.1:c.362G>T, NM_001382433.1:c.362G>A, NM_001382432.1:c.362G>T, NM_001382432.1:c.362G>A, NM_001382430.1:c.362G>T, NM_001382430.1:c.362G>A, NM_001382431.1:c.362G>T, NM_001382431.1:c.362G>A, XM_047431074.1:c.362G>T, XM_047431074.1:c.362G>A, XM_047431069.1:c.362G>T, XM_047431069.1:c.362G>A, XM_047431073.1:c.362G>T, XM_047431073.1:c.362G>A, XM_047431070.1:c.362G>T, XM_047431070.1:c.362G>A, XM_047431071.1:c.362G>T, XM_047431071.1:c.362G>A, XM_047431072.1:c.362G>T, XM_047431072.1:c.362G>A, XM_047431075.1:c.362G>T, XM_047431075.1:c.362G>A, NP_005154.2:p.Arg121Leu, NP_005154.2:p.Arg121Gln, NP_001014432.1:p.Arg121Leu, NP_001014432.1:p.Arg121Gln, NP_001014431.1:p.Arg121Leu, NP_001014431.1:p.Arg121Gln, NP_001369362.1:p.Arg121Leu, NP_001369362.1:p.Arg121Gln, NP_001369361.1:p.Arg121Leu, NP_001369361.1:p.Arg121Gln, NP_001369359.1:p.Arg121Leu, NP_001369359.1:p.Arg121Gln, NP_001369360.1:p.Arg121Leu, NP_001369360.1:p.Arg121Gln, XP_047287030.1:p.Arg121Leu, XP_047287030.1:p.Arg121Gln, XP_047287025.1:p.Arg121Leu, XP_047287025.1:p.Arg121Gln, XP_047287029.1:p.Arg121Leu, XP_047287029.1:p.Arg121Gln, XP_047287026.1:p.Arg121Leu, XP_047287026.1:p.Arg121Gln, XP_047287027.1:p.Arg121Leu, XP_047287027.1:p.Arg121Gln, XP_047287028.1:p.Arg121Leu, XP_047287028.1:p.Arg121Gln, XP_047287031.1:p.Arg121Leu, XP_047287031.1:p.Arg121Gln

                                    18.

                                    rs1454909926 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      14:104773088 (GRCh38)
                                      14:105239425 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:104773087:A:G,NC_000014.9:104773087:A:T
                                      Gene:
                                      AKT1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000014.9:g.104773088A>G, NC_000014.9:g.104773088A>T, NC_000014.8:g.105239425A>G, NC_000014.8:g.105239425A>T, NG_012188.1:g.27657T>C, NG_012188.1:g.27657T>A, NM_005163.2:c.962T>C, NM_005163.2:c.962T>A, NM_001014432.2:c.962T>C, NM_001014432.2:c.962T>A, NM_001014432.1:c.962T>C, NM_001014432.1:c.962T>A, NM_001014431.2:c.962T>C, NM_001014431.2:c.962T>A, NM_001014431.1:c.962T>C, NM_001014431.1:c.962T>A, NM_001382433.1:c.962T>C, NM_001382433.1:c.962T>A, NM_001382432.1:c.962T>C, NM_001382432.1:c.962T>A, NM_001382430.1:c.962T>C, NM_001382430.1:c.962T>A, NM_001382431.1:c.962T>C, NM_001382431.1:c.962T>A, XM_047431074.1:c.962T>C, XM_047431074.1:c.962T>A, XM_047431069.1:c.962T>C, XM_047431069.1:c.962T>A, XM_047431073.1:c.962T>C, XM_047431073.1:c.962T>A, XM_047431070.1:c.962T>C, XM_047431070.1:c.962T>A, XM_047431071.1:c.962T>C, XM_047431071.1:c.962T>A, XM_047431072.1:c.962T>C, XM_047431072.1:c.962T>A, XM_047431075.1:c.962T>C, XM_047431075.1:c.962T>A, NP_005154.2:p.Leu321Pro, NP_005154.2:p.Leu321Gln, NP_001014432.1:p.Leu321Pro, NP_001014432.1:p.Leu321Gln, NP_001014431.1:p.Leu321Pro, NP_001014431.1:p.Leu321Gln, NP_001369362.1:p.Leu321Pro, NP_001369362.1:p.Leu321Gln, NP_001369361.1:p.Leu321Pro, NP_001369361.1:p.Leu321Gln, NP_001369359.1:p.Leu321Pro, NP_001369359.1:p.Leu321Gln, NP_001369360.1:p.Leu321Pro, NP_001369360.1:p.Leu321Gln, XP_047287030.1:p.Leu321Pro, XP_047287030.1:p.Leu321Gln, XP_047287025.1:p.Leu321Pro, XP_047287025.1:p.Leu321Gln, XP_047287029.1:p.Leu321Pro, XP_047287029.1:p.Leu321Gln, XP_047287026.1:p.Leu321Pro, XP_047287026.1:p.Leu321Gln, XP_047287027.1:p.Leu321Pro, XP_047287027.1:p.Leu321Gln, XP_047287028.1:p.Leu321Pro, XP_047287028.1:p.Leu321Gln, XP_047287031.1:p.Leu321Pro, XP_047287031.1:p.Leu321Gln

                                      19.

                                      rs1452532489 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        14:104776745 (GRCh38)
                                        14:105243082 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:104776744:C:A,NC_000014.9:104776744:C:G,NC_000014.9:104776744:C:T
                                        Gene:
                                        AKT1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000014.9:g.104776745C>A, NC_000014.9:g.104776745C>G, NC_000014.9:g.104776745C>T, NC_000014.8:g.105243082C>A, NC_000014.8:g.105243082C>G, NC_000014.8:g.105243082C>T, NG_012188.1:g.24000G>T, NG_012188.1:g.24000G>C, NG_012188.1:g.24000G>A, NM_005163.2:c.201G>T, NM_005163.2:c.201G>C, NM_005163.2:c.201G>A, NM_001014432.2:c.201G>T, NM_001014432.2:c.201G>C, NM_001014432.2:c.201G>A, NM_001014432.1:c.201G>T, NM_001014432.1:c.201G>C, NM_001014432.1:c.201G>A, NM_001014431.2:c.201G>T, NM_001014431.2:c.201G>C, NM_001014431.2:c.201G>A, NM_001014431.1:c.201G>T, NM_001014431.1:c.201G>C, NM_001014431.1:c.201G>A, NM_001382433.1:c.201G>T, NM_001382433.1:c.201G>C, NM_001382433.1:c.201G>A, NM_001382432.1:c.201G>T, NM_001382432.1:c.201G>C, NM_001382432.1:c.201G>A, NM_001382430.1:c.201G>T, NM_001382430.1:c.201G>C, NM_001382430.1:c.201G>A, NM_001382431.1:c.201G>T, NM_001382431.1:c.201G>C, NM_001382431.1:c.201G>A, XM_047431074.1:c.201G>T, XM_047431074.1:c.201G>C, XM_047431074.1:c.201G>A, XM_047431069.1:c.201G>T, XM_047431069.1:c.201G>C, XM_047431069.1:c.201G>A, XM_047431073.1:c.201G>T, XM_047431073.1:c.201G>C, XM_047431073.1:c.201G>A, XM_047431070.1:c.201G>T, XM_047431070.1:c.201G>C, XM_047431070.1:c.201G>A, XM_047431071.1:c.201G>T, XM_047431071.1:c.201G>C, XM_047431071.1:c.201G>A, XM_047431072.1:c.201G>T, XM_047431072.1:c.201G>C, XM_047431072.1:c.201G>A, XM_047431075.1:c.201G>T, XM_047431075.1:c.201G>C, XM_047431075.1:c.201G>A

                                        20.

                                        rs1445658903 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:104775671 (GRCh38)
                                          14:105242008 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:104775670:G:A
                                          Gene:
                                          AKT1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000111/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.104775671G>A, NC_000014.8:g.105242008G>A, NG_012188.1:g.25074C>T, NM_005163.2:c.416C>T, NM_001014432.2:c.416C>T, NM_001014432.1:c.416C>T, NM_001014431.2:c.416C>T, NM_001014431.1:c.416C>T, NM_001382433.1:c.416C>T, NM_001382432.1:c.416C>T, NM_001382430.1:c.416C>T, NM_001382431.1:c.416C>T, XM_047431074.1:c.416C>T, XM_047431069.1:c.416C>T, XM_047431073.1:c.416C>T, XM_047431070.1:c.416C>T, XM_047431071.1:c.416C>T, XM_047431072.1:c.416C>T, XM_047431075.1:c.416C>T, NP_005154.2:p.Ala139Val, NP_001014432.1:p.Ala139Val, NP_001014431.1:p.Ala139Val, NP_001369362.1:p.Ala139Val, NP_001369361.1:p.Ala139Val, NP_001369359.1:p.Ala139Val, NP_001369360.1:p.Ala139Val, XP_047287030.1:p.Ala139Val, XP_047287025.1:p.Ala139Val, XP_047287029.1:p.Ala139Val, XP_047287026.1:p.Ala139Val, XP_047287027.1:p.Ala139Val, XP_047287028.1:p.Ala139Val, XP_047287031.1:p.Ala139Val

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