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Items: 1 to 20 of 1000

1.

rs1489934819 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:178465971 (GRCh38)
    1:178435106 (GRCh37)
    Canonical SPDI:
    NC_000001.11:178465970:C:T
    Gene:
    RASAL2 (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000001.11:g.178465971C>T, NC_000001.10:g.178435106C>T, NG_047109.1:g.377243C>T, NM_004841.5:c.3016C>T, NM_004841.4:c.3016C>T, NM_004841.3:c.3016C>T, NM_170692.4:c.3439C>T, NM_170692.3:c.3439C>T, NM_170692.2:c.3439C>T, XM_005245622.5:c.3016C>T, XM_005245622.4:c.3016C>T, XM_005245622.3:c.3016C>T, XM_005245622.2:c.3016C>T, XM_005245622.1:c.3016C>T, XM_011510166.3:c.3460C>T, XM_011510166.2:c.3460C>T, XM_011510166.1:c.3460C>T, XM_011510167.3:c.3460C>T, XM_011510167.2:c.3460C>T, XM_011510167.1:c.3460C>T, XM_017002854.2:c.3025C>T, XM_017002854.1:c.3025C>T, XM_017002855.2:c.3004C>T, XM_017002855.1:c.3004C>T, XM_017002849.2:c.3847C>T, XM_017002849.1:c.3847C>T, XM_017002851.2:c.3826C>T, XM_017002851.1:c.3826C>T, XM_017002850.2:c.3847C>T, XM_017002850.1:c.3847C>T, XM_017002852.2:c.3826C>T, XM_017002852.1:c.3826C>T, XM_017002853.2:c.3292C>T, XM_017002853.1:c.3292C>T, XM_047434849.1:c.3025C>T, XM_047434857.1:c.3004C>T, XM_047434839.1:c.3109C>T, XM_047434837.1:c.3439C>T, XM_047434838.1:c.3190C>T, XM_047434859.1:c.2995C>T, XM_047434860.1:c.2995C>T, NP_004832.1:p.Arg1006Ter, NP_733793.2:p.Arg1147Ter, XP_005245679.1:p.Arg1006Ter, XP_011508468.1:p.Arg1154Ter, XP_011508469.1:p.Arg1154Ter, XP_016858343.1:p.Arg1009Ter, XP_016858344.1:p.Arg1002Ter, XP_016858338.1:p.Arg1283Ter, XP_016858340.1:p.Arg1276Ter, XP_016858339.1:p.Arg1283Ter, XP_016858341.1:p.Arg1276Ter, XP_016858342.1:p.Arg1098Ter, XP_047290805.1:p.Arg1009Ter, XP_047290813.1:p.Arg1002Ter, XP_047290795.1:p.Arg1037Ter, XP_047290793.1:p.Arg1147Ter, XP_047290794.1:p.Arg1064Ter, XP_047290815.1:p.Arg999Ter, XP_047290816.1:p.Arg999Ter
    2.

    rs1488640330 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:178445636 (GRCh38)
      1:178414771 (GRCh37)
      Canonical SPDI:
      NC_000001.11:178445635:G:C
      Gene:
      RASAL2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.178445636G>C, NC_000001.10:g.178414771G>C, NG_047109.1:g.356908G>C, NM_004841.5:c.1157G>C, NM_004841.4:c.1157G>C, NM_004841.3:c.1157G>C, NM_170692.4:c.1601G>C, NM_170692.3:c.1601G>C, NM_170692.2:c.1601G>C, XM_005245622.5:c.1157G>C, XM_005245622.4:c.1157G>C, XM_005245622.3:c.1157G>C, XM_005245622.2:c.1157G>C, XM_005245622.1:c.1157G>C, XM_011510166.3:c.1601G>C, XM_011510166.2:c.1601G>C, XM_011510166.1:c.1601G>C, XM_011510167.3:c.1601G>C, XM_011510167.2:c.1601G>C, XM_011510167.1:c.1601G>C, XM_017002854.2:c.1166G>C, XM_017002854.1:c.1166G>C, XM_017002855.2:c.1166G>C, XM_017002855.1:c.1166G>C, XM_017002849.2:c.1988G>C, XM_017002849.1:c.1988G>C, XM_017002851.2:c.1988G>C, XM_017002851.1:c.1988G>C, XM_017002850.2:c.1988G>C, XM_017002850.1:c.1988G>C, XM_017002852.2:c.1988G>C, XM_017002852.1:c.1988G>C, XM_017002853.2:c.1433G>C, XM_017002853.1:c.1433G>C, XM_047434849.1:c.1166G>C, XM_047434857.1:c.1166G>C, XM_047434839.1:c.1250G>C, XM_047434837.1:c.1601G>C, XM_047434838.1:c.1352G>C, XM_047434859.1:c.1157G>C, XM_047434860.1:c.1157G>C, NP_004832.1:p.Gly386Ala, NP_733793.2:p.Gly534Ala, XP_005245679.1:p.Gly386Ala, XP_011508468.1:p.Gly534Ala, XP_011508469.1:p.Gly534Ala, XP_016858343.1:p.Gly389Ala, XP_016858344.1:p.Gly389Ala, XP_016858338.1:p.Gly663Ala, XP_016858340.1:p.Gly663Ala, XP_016858339.1:p.Gly663Ala, XP_016858341.1:p.Gly663Ala, XP_016858342.1:p.Gly478Ala, XP_047290805.1:p.Gly389Ala, XP_047290813.1:p.Gly389Ala, XP_047290795.1:p.Gly417Ala, XP_047290793.1:p.Gly534Ala, XP_047290794.1:p.Gly451Ala, XP_047290815.1:p.Gly386Ala, XP_047290816.1:p.Gly386Ala
      3.

      rs1488324452 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:178467421 (GRCh38)
        1:178436556 (GRCh37)
        Canonical SPDI:
        NC_000001.11:178467420:G:C
        Gene:
        RASAL2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.178467421G>C, NC_000001.10:g.178436556G>C, NG_047109.1:g.378693G>C, NM_004841.5:c.3255G>C, NM_004841.4:c.3255G>C, NM_004841.3:c.3255G>C, NM_170692.4:c.3678G>C, NM_170692.3:c.3678G>C, NM_170692.2:c.3678G>C, XM_005245622.5:c.3255G>C, XM_005245622.4:c.3255G>C, XM_005245622.3:c.3255G>C, XM_005245622.2:c.3255G>C, XM_005245622.1:c.3255G>C, XM_011510166.3:c.3699G>C, XM_011510166.2:c.3699G>C, XM_011510166.1:c.3699G>C, XM_011510167.3:c.3699G>C, XM_011510167.2:c.3699G>C, XM_011510167.1:c.3699G>C, XM_017002854.2:c.3264G>C, XM_017002854.1:c.3264G>C, XM_017002855.2:c.3243G>C, XM_017002855.1:c.3243G>C, XM_017002849.2:c.4086G>C, XM_017002849.1:c.4086G>C, XM_017002851.2:c.4065G>C, XM_017002851.1:c.4065G>C, XM_017002850.2:c.4086G>C, XM_017002850.1:c.4086G>C, XM_017002852.2:c.4065G>C, XM_017002852.1:c.4065G>C, XM_017002853.2:c.3531G>C, XM_017002853.1:c.3531G>C, XM_047434849.1:c.3264G>C, XM_047434857.1:c.3243G>C, XM_047434839.1:c.3348G>C, XM_047434837.1:c.3678G>C, XM_047434838.1:c.3429G>C, XM_047434859.1:c.3234G>C, XM_047434860.1:c.3234G>C, NP_004832.1:p.Gln1085His, NP_733793.2:p.Gln1226His, XP_005245679.1:p.Gln1085His, XP_011508468.1:p.Gln1233His, XP_011508469.1:p.Gln1233His, XP_016858343.1:p.Gln1088His, XP_016858344.1:p.Gln1081His, XP_016858338.1:p.Gln1362His, XP_016858340.1:p.Gln1355His, XP_016858339.1:p.Gln1362His, XP_016858341.1:p.Gln1355His, XP_016858342.1:p.Gln1177His, XP_047290805.1:p.Gln1088His, XP_047290813.1:p.Gln1081His, XP_047290795.1:p.Gln1116His, XP_047290793.1:p.Gln1226His, XP_047290794.1:p.Gln1143His, XP_047290815.1:p.Gln1078His, XP_047290816.1:p.Gln1078His
        4.

        rs1488193013 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          1:178458497 (GRCh38)
          1:178427632 (GRCh37)
          Canonical SPDI:
          NC_000001.11:178458496:A:T
          Gene:
          RASAL2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.178458497A>T, NC_000001.10:g.178427632A>T, NG_047109.1:g.369769A>T, NM_004841.5:c.2782A>T, NM_004841.4:c.2782A>T, NM_004841.3:c.2782A>T, NM_170692.4:c.3205A>T, NM_170692.3:c.3205A>T, NM_170692.2:c.3205A>T, XM_005245622.5:c.2782A>T, XM_005245622.4:c.2782A>T, XM_005245622.3:c.2782A>T, XM_005245622.2:c.2782A>T, XM_005245622.1:c.2782A>T, XM_011510166.3:c.3226A>T, XM_011510166.2:c.3226A>T, XM_011510166.1:c.3226A>T, XM_011510167.3:c.3226A>T, XM_011510167.2:c.3226A>T, XM_011510167.1:c.3226A>T, XM_017002854.2:c.2791A>T, XM_017002854.1:c.2791A>T, XM_017002855.2:c.2770A>T, XM_017002855.1:c.2770A>T, XM_017002849.2:c.3613A>T, XM_017002849.1:c.3613A>T, XM_017002851.2:c.3592A>T, XM_017002851.1:c.3592A>T, XM_017002850.2:c.3613A>T, XM_017002850.1:c.3613A>T, XM_017002852.2:c.3592A>T, XM_017002852.1:c.3592A>T, XM_017002853.2:c.3058A>T, XM_017002853.1:c.3058A>T, XM_047434849.1:c.2791A>T, XM_047434857.1:c.2770A>T, XM_047434839.1:c.2875A>T, XM_047434837.1:c.3205A>T, XM_047434838.1:c.2956A>T, XM_047434859.1:c.2761A>T, XM_047434860.1:c.2761A>T, NP_004832.1:p.Ser928Cys, NP_733793.2:p.Ser1069Cys, XP_005245679.1:p.Ser928Cys, XP_011508468.1:p.Ser1076Cys, XP_011508469.1:p.Ser1076Cys, XP_016858343.1:p.Ser931Cys, XP_016858344.1:p.Ser924Cys, XP_016858338.1:p.Ser1205Cys, XP_016858340.1:p.Ser1198Cys, XP_016858339.1:p.Ser1205Cys, XP_016858341.1:p.Ser1198Cys, XP_016858342.1:p.Ser1020Cys, XP_047290805.1:p.Ser931Cys, XP_047290813.1:p.Ser924Cys, XP_047290795.1:p.Ser959Cys, XP_047290793.1:p.Ser1069Cys, XP_047290794.1:p.Ser986Cys, XP_047290815.1:p.Ser921Cys, XP_047290816.1:p.Ser921Cys
          5.

          rs1487911333 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:178094531 (GRCh38)
            1:178063666 (GRCh37)
            Canonical SPDI:
            NC_000001.11:178094530:G:A
            Gene:
            RASAL2 (Varview), RASAL2-AS1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000011/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1487768600 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:178458168 (GRCh38)
              1:178427303 (GRCh37)
              Canonical SPDI:
              NC_000001.11:178458167:G:A
              Gene:
              RASAL2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.178458168G>A, NC_000001.10:g.178427303G>A, NG_047109.1:g.369440G>A, NM_004841.5:c.2453G>A, NM_004841.4:c.2453G>A, NM_004841.3:c.2453G>A, NM_170692.4:c.2876G>A, NM_170692.3:c.2876G>A, NM_170692.2:c.2876G>A, XM_005245622.5:c.2453G>A, XM_005245622.4:c.2453G>A, XM_005245622.3:c.2453G>A, XM_005245622.2:c.2453G>A, XM_005245622.1:c.2453G>A, XM_011510166.3:c.2897G>A, XM_011510166.2:c.2897G>A, XM_011510166.1:c.2897G>A, XM_011510167.3:c.2897G>A, XM_011510167.2:c.2897G>A, XM_011510167.1:c.2897G>A, XM_017002854.2:c.2462G>A, XM_017002854.1:c.2462G>A, XM_017002855.2:c.2441G>A, XM_017002855.1:c.2441G>A, XM_017002849.2:c.3284G>A, XM_017002849.1:c.3284G>A, XM_017002851.2:c.3263G>A, XM_017002851.1:c.3263G>A, XM_017002850.2:c.3284G>A, XM_017002850.1:c.3284G>A, XM_017002852.2:c.3263G>A, XM_017002852.1:c.3263G>A, XM_017002853.2:c.2729G>A, XM_017002853.1:c.2729G>A, XM_047434849.1:c.2462G>A, XM_047434857.1:c.2441G>A, XM_047434839.1:c.2546G>A, XM_047434837.1:c.2876G>A, XM_047434838.1:c.2627G>A, XM_047434859.1:c.2432G>A, XM_047434860.1:c.2432G>A, NP_004832.1:p.Ser818Asn, NP_733793.2:p.Ser959Asn, XP_005245679.1:p.Ser818Asn, XP_011508468.1:p.Ser966Asn, XP_011508469.1:p.Ser966Asn, XP_016858343.1:p.Ser821Asn, XP_016858344.1:p.Ser814Asn, XP_016858338.1:p.Ser1095Asn, XP_016858340.1:p.Ser1088Asn, XP_016858339.1:p.Ser1095Asn, XP_016858341.1:p.Ser1088Asn, XP_016858342.1:p.Ser910Asn, XP_047290805.1:p.Ser821Asn, XP_047290813.1:p.Ser814Asn, XP_047290795.1:p.Ser849Asn, XP_047290793.1:p.Ser959Asn, XP_047290794.1:p.Ser876Asn, XP_047290815.1:p.Ser811Asn, XP_047290816.1:p.Ser811Asn
              7.

              rs1486438975 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:178094590 (GRCh38)
                1:178063725 (GRCh37)
                Canonical SPDI:
                NC_000001.11:178094589:A:G
                Gene:
                RASAL2 (Varview), RASAL2-AS1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                9.

                rs1485637553 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:178094660 (GRCh38)
                  1:178063795 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:178094659:C:T
                  Gene:
                  RASAL2 (Varview), RASAL2-AS1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000049/2 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  10.

                  rs1485604865 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    1:178390175 (GRCh38)
                    1:178359310 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:178390174:A:C,NC_000001.11:178390174:A:G
                    Gene:
                    RASAL2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.178390175A>C, NC_000001.11:g.178390175A>G, NC_000001.10:g.178359310A>C, NC_000001.10:g.178359310A>G, NG_047109.1:g.301447A>C, NG_047109.1:g.301447A>G, NM_004841.5:c.89A>C, NM_004841.5:c.89A>G, NM_004841.4:c.89A>C, NM_004841.4:c.89A>G, NM_004841.3:c.89A>C, NM_004841.3:c.89A>G, NM_170692.4:c.533A>C, NM_170692.4:c.533A>G, NM_170692.3:c.533A>C, NM_170692.3:c.533A>G, NM_170692.2:c.533A>C, NM_170692.2:c.533A>G, XM_005245622.5:c.89A>C, XM_005245622.5:c.89A>G, XM_005245622.4:c.89A>C, XM_005245622.4:c.89A>G, XM_005245622.3:c.89A>C, XM_005245622.3:c.89A>G, XM_005245622.2:c.89A>C, XM_005245622.2:c.89A>G, XM_005245622.1:c.89A>C, XM_005245622.1:c.89A>G, XM_011510166.3:c.533A>C, XM_011510166.3:c.533A>G, XM_011510166.2:c.533A>C, XM_011510166.2:c.533A>G, XM_011510166.1:c.533A>C, XM_011510166.1:c.533A>G, XM_011510167.3:c.533A>C, XM_011510167.3:c.533A>G, XM_011510167.2:c.533A>C, XM_011510167.2:c.533A>G, XM_011510167.1:c.533A>C, XM_011510167.1:c.533A>G, XM_017002854.2:c.98A>C, XM_017002854.2:c.98A>G, XM_017002854.1:c.98A>C, XM_017002854.1:c.98A>G, XM_017002855.2:c.98A>C, XM_017002855.2:c.98A>G, XM_017002855.1:c.98A>C, XM_017002855.1:c.98A>G, XM_017002849.2:c.920A>C, XM_017002849.2:c.920A>G, XM_017002849.1:c.920A>C, XM_017002849.1:c.920A>G, XM_017002851.2:c.920A>C, XM_017002851.2:c.920A>G, XM_017002851.1:c.920A>C, XM_017002851.1:c.920A>G, XM_017002850.2:c.920A>C, XM_017002850.2:c.920A>G, XM_017002850.1:c.920A>C, XM_017002850.1:c.920A>G, XM_017002852.2:c.920A>C, XM_017002852.2:c.920A>G, XM_017002852.1:c.920A>C, XM_017002852.1:c.920A>G, XM_017002853.2:c.365A>C, XM_017002853.2:c.365A>G, XM_017002853.1:c.365A>C, XM_017002853.1:c.365A>G, XM_047434849.1:c.98A>C, XM_047434849.1:c.98A>G, XM_047434857.1:c.98A>C, XM_047434857.1:c.98A>G, XM_047434839.1:c.182A>C, XM_047434839.1:c.182A>G, XM_047434837.1:c.533A>C, XM_047434837.1:c.533A>G, XM_047434838.1:c.284A>C, XM_047434838.1:c.284A>G, XM_047434859.1:c.89A>C, XM_047434859.1:c.89A>G, XM_047434860.1:c.89A>C, XM_047434860.1:c.89A>G, NP_004832.1:p.Asp30Ala, NP_004832.1:p.Asp30Gly, NP_733793.2:p.Asp178Ala, NP_733793.2:p.Asp178Gly, XP_005245679.1:p.Asp30Ala, XP_005245679.1:p.Asp30Gly, XP_011508468.1:p.Asp178Ala, XP_011508468.1:p.Asp178Gly, XP_011508469.1:p.Asp178Ala, XP_011508469.1:p.Asp178Gly, XP_016858343.1:p.Asp33Ala, XP_016858343.1:p.Asp33Gly, XP_016858344.1:p.Asp33Ala, XP_016858344.1:p.Asp33Gly, XP_016858338.1:p.Asp307Ala, XP_016858338.1:p.Asp307Gly, XP_016858340.1:p.Asp307Ala, XP_016858340.1:p.Asp307Gly, XP_016858339.1:p.Asp307Ala, XP_016858339.1:p.Asp307Gly, XP_016858341.1:p.Asp307Ala, XP_016858341.1:p.Asp307Gly, XP_016858342.1:p.Asp122Ala, XP_016858342.1:p.Asp122Gly, XP_047290805.1:p.Asp33Ala, XP_047290805.1:p.Asp33Gly, XP_047290813.1:p.Asp33Ala, XP_047290813.1:p.Asp33Gly, XP_047290795.1:p.Asp61Ala, XP_047290795.1:p.Asp61Gly, XP_047290793.1:p.Asp178Ala, XP_047290793.1:p.Asp178Gly, XP_047290794.1:p.Asp95Ala, XP_047290794.1:p.Asp95Gly, XP_047290815.1:p.Asp30Ala, XP_047290815.1:p.Asp30Gly, XP_047290816.1:p.Asp30Ala, XP_047290816.1:p.Asp30Gly
                    11.

                    rs1483856763 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:178467396 (GRCh38)
                      1:178436531 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:178467395:C:T
                      Gene:
                      RASAL2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.178467396C>T, NC_000001.10:g.178436531C>T, NG_047109.1:g.378668C>T, NM_004841.5:c.3230C>T, NM_004841.4:c.3230C>T, NM_004841.3:c.3230C>T, NM_170692.4:c.3653C>T, NM_170692.3:c.3653C>T, NM_170692.2:c.3653C>T, XM_005245622.5:c.3230C>T, XM_005245622.4:c.3230C>T, XM_005245622.3:c.3230C>T, XM_005245622.2:c.3230C>T, XM_005245622.1:c.3230C>T, XM_011510166.3:c.3674C>T, XM_011510166.2:c.3674C>T, XM_011510166.1:c.3674C>T, XM_011510167.3:c.3674C>T, XM_011510167.2:c.3674C>T, XM_011510167.1:c.3674C>T, XM_017002854.2:c.3239C>T, XM_017002854.1:c.3239C>T, XM_017002855.2:c.3218C>T, XM_017002855.1:c.3218C>T, XM_017002849.2:c.4061C>T, XM_017002849.1:c.4061C>T, XM_017002851.2:c.4040C>T, XM_017002851.1:c.4040C>T, XM_017002850.2:c.4061C>T, XM_017002850.1:c.4061C>T, XM_017002852.2:c.4040C>T, XM_017002852.1:c.4040C>T, XM_017002853.2:c.3506C>T, XM_017002853.1:c.3506C>T, XM_047434849.1:c.3239C>T, XM_047434857.1:c.3218C>T, XM_047434839.1:c.3323C>T, XM_047434837.1:c.3653C>T, XM_047434838.1:c.3404C>T, XM_047434859.1:c.3209C>T, XM_047434860.1:c.3209C>T, NP_004832.1:p.Ala1077Val, NP_733793.2:p.Ala1218Val, XP_005245679.1:p.Ala1077Val, XP_011508468.1:p.Ala1225Val, XP_011508469.1:p.Ala1225Val, XP_016858343.1:p.Ala1080Val, XP_016858344.1:p.Ala1073Val, XP_016858338.1:p.Ala1354Val, XP_016858340.1:p.Ala1347Val, XP_016858339.1:p.Ala1354Val, XP_016858341.1:p.Ala1347Val, XP_016858342.1:p.Ala1169Val, XP_047290805.1:p.Ala1080Val, XP_047290813.1:p.Ala1073Val, XP_047290795.1:p.Ala1108Val, XP_047290793.1:p.Ala1218Val, XP_047290794.1:p.Ala1135Val, XP_047290815.1:p.Ala1070Val, XP_047290816.1:p.Ala1070Val
                      12.

                      rs1483745195 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:178458411 (GRCh38)
                        1:178427546 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:178458410:G:A
                        Gene:
                        RASAL2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.178458411G>A, NC_000001.10:g.178427546G>A, NG_047109.1:g.369683G>A, NM_004841.5:c.2696G>A, NM_004841.4:c.2696G>A, NM_004841.3:c.2696G>A, NM_170692.4:c.3119G>A, NM_170692.3:c.3119G>A, NM_170692.2:c.3119G>A, XM_005245622.5:c.2696G>A, XM_005245622.4:c.2696G>A, XM_005245622.3:c.2696G>A, XM_005245622.2:c.2696G>A, XM_005245622.1:c.2696G>A, XM_011510166.3:c.3140G>A, XM_011510166.2:c.3140G>A, XM_011510166.1:c.3140G>A, XM_011510167.3:c.3140G>A, XM_011510167.2:c.3140G>A, XM_011510167.1:c.3140G>A, XM_017002854.2:c.2705G>A, XM_017002854.1:c.2705G>A, XM_017002855.2:c.2684G>A, XM_017002855.1:c.2684G>A, XM_017002849.2:c.3527G>A, XM_017002849.1:c.3527G>A, XM_017002851.2:c.3506G>A, XM_017002851.1:c.3506G>A, XM_017002850.2:c.3527G>A, XM_017002850.1:c.3527G>A, XM_017002852.2:c.3506G>A, XM_017002852.1:c.3506G>A, XM_017002853.2:c.2972G>A, XM_017002853.1:c.2972G>A, XM_047434849.1:c.2705G>A, XM_047434857.1:c.2684G>A, XM_047434839.1:c.2789G>A, XM_047434837.1:c.3119G>A, XM_047434838.1:c.2870G>A, XM_047434859.1:c.2675G>A, XM_047434860.1:c.2675G>A, NP_004832.1:p.Ser899Asn, NP_733793.2:p.Ser1040Asn, XP_005245679.1:p.Ser899Asn, XP_011508468.1:p.Ser1047Asn, XP_011508469.1:p.Ser1047Asn, XP_016858343.1:p.Ser902Asn, XP_016858344.1:p.Ser895Asn, XP_016858338.1:p.Ser1176Asn, XP_016858340.1:p.Ser1169Asn, XP_016858339.1:p.Ser1176Asn, XP_016858341.1:p.Ser1169Asn, XP_016858342.1:p.Ser991Asn, XP_047290805.1:p.Ser902Asn, XP_047290813.1:p.Ser895Asn, XP_047290795.1:p.Ser930Asn, XP_047290793.1:p.Ser1040Asn, XP_047290794.1:p.Ser957Asn, XP_047290815.1:p.Ser892Asn, XP_047290816.1:p.Ser892Asn
                        16.

                        rs1479740549 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          1:178442708 (GRCh38)
                          1:178411843 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:178442707:T:G
                          Gene:
                          RASAL2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.178442708T>G, NC_000001.10:g.178411843T>G, NG_047109.1:g.353980T>G, NM_004841.5:c.517T>G, NM_004841.4:c.517T>G, NM_004841.3:c.517T>G, NM_170692.4:c.961T>G, NM_170692.3:c.961T>G, NM_170692.2:c.961T>G, XM_005245622.5:c.517T>G, XM_005245622.4:c.517T>G, XM_005245622.3:c.517T>G, XM_005245622.2:c.517T>G, XM_005245622.1:c.517T>G, XM_011510166.3:c.961T>G, XM_011510166.2:c.961T>G, XM_011510166.1:c.961T>G, XM_011510167.3:c.961T>G, XM_011510167.2:c.961T>G, XM_011510167.1:c.961T>G, XM_017002854.2:c.526T>G, XM_017002854.1:c.526T>G, XM_017002855.2:c.526T>G, XM_017002855.1:c.526T>G, XM_017002849.2:c.1348T>G, XM_017002849.1:c.1348T>G, XM_017002851.2:c.1348T>G, XM_017002851.1:c.1348T>G, XM_017002850.2:c.1348T>G, XM_017002850.1:c.1348T>G, XM_017002852.2:c.1348T>G, XM_017002852.1:c.1348T>G, XM_017002853.2:c.793T>G, XM_017002853.1:c.793T>G, XM_047434849.1:c.526T>G, XM_047434857.1:c.526T>G, XM_047434839.1:c.610T>G, XM_047434837.1:c.961T>G, XM_047434838.1:c.712T>G, XM_047434859.1:c.517T>G, XM_047434860.1:c.517T>G, NP_004832.1:p.Leu173Val, NP_733793.2:p.Leu321Val, XP_005245679.1:p.Leu173Val, XP_011508468.1:p.Leu321Val, XP_011508469.1:p.Leu321Val, XP_016858343.1:p.Leu176Val, XP_016858344.1:p.Leu176Val, XP_016858338.1:p.Leu450Val, XP_016858340.1:p.Leu450Val, XP_016858339.1:p.Leu450Val, XP_016858341.1:p.Leu450Val, XP_016858342.1:p.Leu265Val, XP_047290805.1:p.Leu176Val, XP_047290813.1:p.Leu176Val, XP_047290795.1:p.Leu204Val, XP_047290793.1:p.Leu321Val, XP_047290794.1:p.Leu238Val, XP_047290815.1:p.Leu173Val, XP_047290816.1:p.Leu173Val
                          17.

                          rs1479391052 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:178458341 (GRCh38)
                            1:178427476 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:178458340:G:A
                            Gene:
                            RASAL2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.178458341G>A, NC_000001.10:g.178427476G>A, NG_047109.1:g.369613G>A, NM_004841.5:c.2626G>A, NM_004841.4:c.2626G>A, NM_004841.3:c.2626G>A, NM_170692.4:c.3049G>A, NM_170692.3:c.3049G>A, NM_170692.2:c.3049G>A, XM_005245622.5:c.2626G>A, XM_005245622.4:c.2626G>A, XM_005245622.3:c.2626G>A, XM_005245622.2:c.2626G>A, XM_005245622.1:c.2626G>A, XM_011510166.3:c.3070G>A, XM_011510166.2:c.3070G>A, XM_011510166.1:c.3070G>A, XM_011510167.3:c.3070G>A, XM_011510167.2:c.3070G>A, XM_011510167.1:c.3070G>A, XM_017002854.2:c.2635G>A, XM_017002854.1:c.2635G>A, XM_017002855.2:c.2614G>A, XM_017002855.1:c.2614G>A, XM_017002849.2:c.3457G>A, XM_017002849.1:c.3457G>A, XM_017002851.2:c.3436G>A, XM_017002851.1:c.3436G>A, XM_017002850.2:c.3457G>A, XM_017002850.1:c.3457G>A, XM_017002852.2:c.3436G>A, XM_017002852.1:c.3436G>A, XM_017002853.2:c.2902G>A, XM_017002853.1:c.2902G>A, XM_047434849.1:c.2635G>A, XM_047434857.1:c.2614G>A, XM_047434839.1:c.2719G>A, XM_047434837.1:c.3049G>A, XM_047434838.1:c.2800G>A, XM_047434859.1:c.2605G>A, XM_047434860.1:c.2605G>A, NP_004832.1:p.Gly876Ser, NP_733793.2:p.Gly1017Ser, XP_005245679.1:p.Gly876Ser, XP_011508468.1:p.Gly1024Ser, XP_011508469.1:p.Gly1024Ser, XP_016858343.1:p.Gly879Ser, XP_016858344.1:p.Gly872Ser, XP_016858338.1:p.Gly1153Ser, XP_016858340.1:p.Gly1146Ser, XP_016858339.1:p.Gly1153Ser, XP_016858341.1:p.Gly1146Ser, XP_016858342.1:p.Gly968Ser, XP_047290805.1:p.Gly879Ser, XP_047290813.1:p.Gly872Ser, XP_047290795.1:p.Gly907Ser, XP_047290793.1:p.Gly1017Ser, XP_047290794.1:p.Gly934Ser, XP_047290815.1:p.Gly869Ser, XP_047290816.1:p.Gly869Ser
                            19.

                            rs1478218007 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:178441628 (GRCh38)
                              1:178410763 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:178441627:G:A
                              Gene:
                              RASAL2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.178441628G>A, NC_000001.10:g.178410763G>A, NG_047109.1:g.352900G>A, NM_004841.5:c.464G>A, NM_004841.4:c.464G>A, NM_004841.3:c.464G>A, NM_170692.4:c.908G>A, NM_170692.3:c.908G>A, NM_170692.2:c.908G>A, XM_005245622.5:c.464G>A, XM_005245622.4:c.464G>A, XM_005245622.3:c.464G>A, XM_005245622.2:c.464G>A, XM_005245622.1:c.464G>A, XM_011510166.3:c.908G>A, XM_011510166.2:c.908G>A, XM_011510166.1:c.908G>A, XM_011510167.3:c.908G>A, XM_011510167.2:c.908G>A, XM_011510167.1:c.908G>A, XM_017002854.2:c.473G>A, XM_017002854.1:c.473G>A, XM_017002855.2:c.473G>A, XM_017002855.1:c.473G>A, XM_017002849.2:c.1295G>A, XM_017002849.1:c.1295G>A, XM_017002851.2:c.1295G>A, XM_017002851.1:c.1295G>A, XM_017002850.2:c.1295G>A, XM_017002850.1:c.1295G>A, XM_017002852.2:c.1295G>A, XM_017002852.1:c.1295G>A, XM_017002853.2:c.740G>A, XM_017002853.1:c.740G>A, XM_047434849.1:c.473G>A, XM_047434857.1:c.473G>A, XM_047434839.1:c.557G>A, XM_047434837.1:c.908G>A, XM_047434838.1:c.659G>A, XM_047434859.1:c.464G>A, XM_047434860.1:c.464G>A, NP_004832.1:p.Arg155Lys, NP_733793.2:p.Arg303Lys, XP_005245679.1:p.Arg155Lys, XP_011508468.1:p.Arg303Lys, XP_011508469.1:p.Arg303Lys, XP_016858343.1:p.Arg158Lys, XP_016858344.1:p.Arg158Lys, XP_016858338.1:p.Arg432Lys, XP_016858340.1:p.Arg432Lys, XP_016858339.1:p.Arg432Lys, XP_016858341.1:p.Arg432Lys, XP_016858342.1:p.Arg247Lys, XP_047290805.1:p.Arg158Lys, XP_047290813.1:p.Arg158Lys, XP_047290795.1:p.Arg186Lys, XP_047290793.1:p.Arg303Lys, XP_047290794.1:p.Arg220Lys, XP_047290815.1:p.Arg155Lys, XP_047290816.1:p.Arg155Lys

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