U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 841

1.

rs1490325299 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    12:113112151 (GRCh38)
    12:113549956 (GRCh37)
    Canonical SPDI:
    NC_000012.12:113112150:T:C
    Gene:
    RASAL1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000012.12:g.113112151T>C, NC_000012.11:g.113549956T>C, NG_047089.1:g.29089A>G, NM_004658.3:c.1309A>G, NM_004658.2:c.1309A>G, NM_001193521.3:c.1309A>G, NM_001193521.2:c.1309A>G, NM_001193521.1:c.1309A>G, NM_001193520.2:c.1309A>G, NM_001193520.1:c.1309A>G, NM_001301202.2:c.1309A>G, NM_001301202.1:c.1309A>G, NM_001394083.1:c.1309A>G, NM_001394081.1:c.1309A>G, NM_001394082.1:c.1309A>G, NM_001394085.1:c.1309A>G, NM_001394086.1:c.1309A>G, NM_001394084.1:c.1309A>G, NM_001394087.1:c.1117A>G, NM_001394088.1:c.946A>G, NM_001394089.1:c.643A>G, XM_005253950.5:c.1309A>G, XM_005253950.4:c.1309A>G, XM_005253950.3:c.1309A>G, XM_005253950.2:c.1309A>G, XM_005253950.1:c.1309A>G, XM_006719642.4:c.1309A>G, XM_006719642.3:c.1309A>G, XM_006719642.2:c.1309A>G, XM_006719642.1:c.1309A>G, XM_006719641.4:c.1309A>G, XM_006719641.3:c.1309A>G, XM_006719641.2:c.1309A>G, XM_006719641.1:c.1309A>G, XM_011538854.3:c.232A>G, XM_011538854.2:c.232A>G, XM_011538854.1:c.232A>G, XM_047429679.1:c.1309A>G, XM_047429678.1:c.1309A>G, XM_047429677.1:c.1309A>G, XM_047429676.1:c.1309A>G, XR_007063139.1:n.1608A>G, NP_004649.2:p.Met437Val, NP_001180450.1:p.Met437Val, NP_001180449.1:p.Met437Val, NP_001288131.1:p.Met437Val, NP_001381012.1:p.Met437Val, NP_001381010.1:p.Met437Val, NP_001381011.1:p.Met437Val, NP_001381014.1:p.Met437Val, NP_001381015.1:p.Met437Val, NP_001381013.1:p.Met437Val, NP_001381016.1:p.Met373Val, NP_001381017.1:p.Met316Val, NP_001381018.1:p.Met215Val, XP_005254007.1:p.Met437Val, XP_006719705.1:p.Met437Val, XP_006719704.1:p.Met437Val, XP_011537156.1:p.Met78Val, XP_047285635.1:p.Met437Val, XP_047285634.1:p.Met437Val, XP_047285633.1:p.Met437Val, XP_047285632.1:p.Met437Val

    2.

    rs1490297381 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      12:113128079 (GRCh38)
      12:113565885 (GRCh37)
      Canonical SPDI:
      NC_000012.12:113128079:T:TT
      Gene:
      RASAL1 (Varview)
      Functional Consequence:
      intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000012.12:g.113128080dup, NC_000012.11:g.113565885dup, NG_047089.1:g.13160dup, NM_004658.3:c.221dup, NM_004658.2:c.221dup, NM_001193521.3:c.221dup, NM_001193521.2:c.221dup, NM_001193521.1:c.221dup, NM_001193520.2:c.221dup, NM_001193520.1:c.221dup, NM_001301202.2:c.221dup, NM_001301202.1:c.221dup, NM_001394083.1:c.221dup, NM_001394081.1:c.221dup, NM_001394082.1:c.221dup, NM_001394085.1:c.221dup, NM_001394086.1:c.221dup, NM_001394084.1:c.221dup, NM_001394087.1:c.221dup, XM_005253950.5:c.221dup, XM_005253950.4:c.221dup, XM_005253950.3:c.221dup, XM_005253950.2:c.221dup, XM_005253950.1:c.221dup, XM_006719642.4:c.221dup, XM_006719642.3:c.221dup, XM_006719642.2:c.221dup, XM_006719642.1:c.221dup, XM_006719641.4:c.221dup, XM_006719641.3:c.221dup, XM_006719641.2:c.221dup, XM_006719641.1:c.221dup, XM_047429679.1:c.221dup, XM_047429678.1:c.221dup, XM_047429677.1:c.221dup, XM_047429676.1:c.221dup, XR_007063139.1:n.520dup, NP_004649.2:p.Asp74fs, NP_001180450.1:p.Asp74fs, NP_001180449.1:p.Asp74fs, NP_001288131.1:p.Asp74fs, NP_001381012.1:p.Asp74fs, NP_001381010.1:p.Asp74fs, NP_001381011.1:p.Asp74fs, NP_001381014.1:p.Asp74fs, NP_001381015.1:p.Asp74fs, NP_001381013.1:p.Asp74fs, NP_001381016.1:p.Asp74fs, XP_005254007.1:p.Asp74fs, XP_006719705.1:p.Asp74fs, XP_006719704.1:p.Asp74fs, XP_047285635.1:p.Asp74fs, XP_047285634.1:p.Asp74fs, XP_047285633.1:p.Asp74fs, XP_047285632.1:p.Asp74fs

      3.

      rs1488277864 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:113115648 (GRCh38)
        12:113553453 (GRCh37)
        Canonical SPDI:
        NC_000012.12:113115647:C:T
        Gene:
        RASAL1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000012.12:g.113115648C>T, NC_000012.11:g.113553453C>T, NG_047089.1:g.25592G>A, NM_004658.3:c.990G>A, NM_004658.2:c.990G>A, NM_001193521.3:c.990G>A, NM_001193521.2:c.990G>A, NM_001193521.1:c.990G>A, NM_001193520.2:c.990G>A, NM_001193520.1:c.990G>A, NM_001301202.2:c.990G>A, NM_001301202.1:c.990G>A, NM_001394083.1:c.990G>A, NM_001394081.1:c.990G>A, NM_001394082.1:c.990G>A, NM_001394085.1:c.990G>A, NM_001394086.1:c.990G>A, NM_001394084.1:c.990G>A, NM_001394087.1:c.798G>A, NM_001394088.1:c.627G>A, NM_001394089.1:c.324G>A, XM_005253950.5:c.990G>A, XM_005253950.4:c.990G>A, XM_005253950.3:c.990G>A, XM_005253950.2:c.990G>A, XM_005253950.1:c.990G>A, XM_006719642.4:c.990G>A, XM_006719642.3:c.990G>A, XM_006719642.2:c.990G>A, XM_006719642.1:c.990G>A, XM_006719641.4:c.990G>A, XM_006719641.3:c.990G>A, XM_006719641.2:c.990G>A, XM_006719641.1:c.990G>A, XM_047429679.1:c.990G>A, XM_047429678.1:c.990G>A, XM_047429677.1:c.990G>A, XM_047429676.1:c.990G>A, XR_007063139.1:n.1289G>A

        4.

        rs1487918389 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:113114827 (GRCh38)
          12:113552632 (GRCh37)
          Canonical SPDI:
          NC_000012.12:113114826:G:A
          Gene:
          RASAL1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000043/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000012.12:g.113114827G>A, NC_000012.11:g.113552632G>A, NG_047089.1:g.26413C>T, NM_004658.3:c.1154C>T, NM_004658.2:c.1154C>T, NM_001193521.3:c.1154C>T, NM_001193521.2:c.1154C>T, NM_001193521.1:c.1154C>T, NM_001193520.2:c.1154C>T, NM_001193520.1:c.1154C>T, NM_001301202.2:c.1154C>T, NM_001301202.1:c.1154C>T, NM_001394083.1:c.1154C>T, NM_001394081.1:c.1154C>T, NM_001394082.1:c.1154C>T, NM_001394085.1:c.1154C>T, NM_001394086.1:c.1154C>T, NM_001394084.1:c.1154C>T, NM_001394087.1:c.962C>T, NM_001394088.1:c.791C>T, NM_001394089.1:c.488C>T, XM_005253950.5:c.1154C>T, XM_005253950.4:c.1154C>T, XM_005253950.3:c.1154C>T, XM_005253950.2:c.1154C>T, XM_005253950.1:c.1154C>T, XM_006719642.4:c.1154C>T, XM_006719642.3:c.1154C>T, XM_006719642.2:c.1154C>T, XM_006719642.1:c.1154C>T, XM_006719641.4:c.1154C>T, XM_006719641.3:c.1154C>T, XM_006719641.2:c.1154C>T, XM_006719641.1:c.1154C>T, XM_011538854.3:c.77C>T, XM_011538854.2:c.77C>T, XM_011538854.1:c.77C>T, XM_047429679.1:c.1154C>T, XM_047429678.1:c.1154C>T, XM_047429677.1:c.1154C>T, XM_047429676.1:c.1154C>T, XR_007063139.1:n.1453C>T, NP_004649.2:p.Pro385Leu, NP_001180450.1:p.Pro385Leu, NP_001180449.1:p.Pro385Leu, NP_001288131.1:p.Pro385Leu, NP_001381012.1:p.Pro385Leu, NP_001381010.1:p.Pro385Leu, NP_001381011.1:p.Pro385Leu, NP_001381014.1:p.Pro385Leu, NP_001381015.1:p.Pro385Leu, NP_001381013.1:p.Pro385Leu, NP_001381016.1:p.Pro321Leu, NP_001381017.1:p.Pro264Leu, NP_001381018.1:p.Pro163Leu, XP_005254007.1:p.Pro385Leu, XP_006719705.1:p.Pro385Leu, XP_006719704.1:p.Pro385Leu, XP_011537156.1:p.Pro26Leu, XP_047285635.1:p.Pro385Leu, XP_047285634.1:p.Pro385Leu, XP_047285633.1:p.Pro385Leu, XP_047285632.1:p.Pro385Leu

          5.

          rs1483811621 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            12:113115737 (GRCh38)
            12:113553542 (GRCh37)
            Canonical SPDI:
            NC_000012.12:113115736:A:
            Gene:
            RASAL1 (Varview)
            Functional Consequence:
            frameshift_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.00008/1 (GoESP)
            HGVS:
            NC_000012.12:g.113115737del, NC_000012.11:g.113553542del, NG_047089.1:g.25503del, NM_004658.3:c.901del, NM_004658.2:c.901del, NM_001193521.3:c.901del, NM_001193521.2:c.901del, NM_001193521.1:c.901del, NM_001193520.2:c.901del, NM_001193520.1:c.901del, NM_001301202.2:c.901del, NM_001301202.1:c.901del, NM_001394083.1:c.901del, NM_001394081.1:c.901del, NM_001394082.1:c.901del, NM_001394085.1:c.901del, NM_001394086.1:c.901del, NM_001394084.1:c.901del, NM_001394087.1:c.709del, NM_001394088.1:c.538del, NM_001394089.1:c.235del, XM_005253950.5:c.901del, XM_005253950.4:c.901del, XM_005253950.3:c.901del, XM_005253950.2:c.901del, XM_005253950.1:c.901del, XM_006719642.4:c.901del, XM_006719642.3:c.901del, XM_006719642.2:c.901del, XM_006719642.1:c.901del, XM_006719641.4:c.901del, XM_006719641.3:c.901del, XM_006719641.2:c.901del, XM_006719641.1:c.901del, XM_047429679.1:c.901del, XM_047429678.1:c.901del, XM_047429677.1:c.901del, XM_047429676.1:c.901del, XR_007063139.1:n.1200del, NP_004649.2:p.Cys301fs, NP_001180450.1:p.Cys301fs, NP_001180449.1:p.Cys301fs, NP_001288131.1:p.Cys301fs, NP_001381012.1:p.Cys301fs, NP_001381010.1:p.Cys301fs, NP_001381011.1:p.Cys301fs, NP_001381014.1:p.Cys301fs, NP_001381015.1:p.Cys301fs, NP_001381013.1:p.Cys301fs, NP_001381016.1:p.Cys237fs, NP_001381017.1:p.Cys180fs, NP_001381018.1:p.Cys79fs, XP_005254007.1:p.Cys301fs, XP_006719705.1:p.Cys301fs, XP_006719704.1:p.Cys301fs, XP_047285635.1:p.Cys301fs, XP_047285634.1:p.Cys301fs, XP_047285633.1:p.Cys301fs, XP_047285632.1:p.Cys301fs

            6.

            rs1481356112 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:113119155 (GRCh38)
              12:113556960 (GRCh37)
              Canonical SPDI:
              NC_000012.12:113119154:C:A
              Gene:
              RASAL1 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              NC_000012.12:g.113119155C>A, NC_000012.11:g.113556960C>A, NG_047089.1:g.22085G>T, NM_004658.3:c.615G>T, NM_004658.2:c.615G>T, NM_001193521.3:c.615G>T, NM_001193521.2:c.615G>T, NM_001193521.1:c.615G>T, NM_001193520.2:c.615G>T, NM_001193520.1:c.615G>T, NM_001301202.2:c.615G>T, NM_001301202.1:c.615G>T, NM_001394083.1:c.615G>T, NM_001394081.1:c.615G>T, NM_001394082.1:c.615G>T, NM_001394085.1:c.615G>T, NM_001394086.1:c.615G>T, NM_001394084.1:c.615G>T, NM_001394087.1:c.423G>T, NM_001394088.1:c.252G>T, XM_005253950.5:c.615G>T, XM_005253950.4:c.615G>T, XM_005253950.3:c.615G>T, XM_005253950.2:c.615G>T, XM_005253950.1:c.615G>T, XM_006719642.4:c.615G>T, XM_006719642.3:c.615G>T, XM_006719642.2:c.615G>T, XM_006719642.1:c.615G>T, XM_006719641.4:c.615G>T, XM_006719641.3:c.615G>T, XM_006719641.2:c.615G>T, XM_006719641.1:c.615G>T, XM_047429679.1:c.615G>T, XM_047429678.1:c.615G>T, XM_047429677.1:c.615G>T, XM_047429676.1:c.615G>T, XR_007063139.1:n.914G>T, NP_004649.2:p.Met205Ile, NP_001180450.1:p.Met205Ile, NP_001180449.1:p.Met205Ile, NP_001288131.1:p.Met205Ile, NP_001381012.1:p.Met205Ile, NP_001381010.1:p.Met205Ile, NP_001381011.1:p.Met205Ile, NP_001381014.1:p.Met205Ile, NP_001381015.1:p.Met205Ile, NP_001381013.1:p.Met205Ile, NP_001381016.1:p.Met141Ile, NP_001381017.1:p.Met84Ile, XP_005254007.1:p.Met205Ile, XP_006719705.1:p.Met205Ile, XP_006719704.1:p.Met205Ile, XP_047285635.1:p.Met205Ile, XP_047285634.1:p.Met205Ile, XP_047285633.1:p.Met205Ile, XP_047285632.1:p.Met205Ile

              7.

              rs1481035240 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                12:113099981 (GRCh38)
                12:113537786 (GRCh37)
                Canonical SPDI:
                NC_000012.12:113099980:T:G
                Gene:
                RASAL1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.113099981T>G, NC_000012.11:g.113537786T>G, NG_047089.1:g.41259A>C, NM_004658.3:c.2363A>C, NM_004658.2:c.2363A>C, NM_001193521.3:c.2279A>C, NM_001193521.2:c.2279A>C, NM_001193521.1:c.2279A>C, NM_001193520.2:c.2369A>C, NM_001193520.1:c.2369A>C, NM_001301202.2:c.2366A>C, NM_001301202.1:c.2366A>C, NM_001394083.1:c.2366A>C, NM_001394081.1:c.2369A>C, NM_001394082.1:c.2366A>C, NM_001394085.1:c.2363A>C, NM_001394086.1:c.2282A>C, NM_001394084.1:c.2366A>C, NM_001394087.1:c.2177A>C, NM_001394088.1:c.2003A>C, NM_001394089.1:c.1700A>C, XM_005253950.5:c.2369A>C, XM_005253950.4:c.2369A>C, XM_005253950.3:c.2369A>C, XM_005253950.2:c.2369A>C, XM_005253950.1:c.2369A>C, XM_006719642.4:c.2366A>C, XM_006719642.3:c.2366A>C, XM_006719642.2:c.2366A>C, XM_006719642.1:c.2366A>C, XM_006719641.4:c.2369A>C, XM_006719641.3:c.2369A>C, XM_006719641.2:c.2369A>C, XM_006719641.1:c.2369A>C, XM_011538854.3:c.1292A>C, XM_011538854.2:c.1292A>C, XM_011538854.1:c.1292A>C, XM_047429677.1:c.2285A>C, XM_047429676.1:c.2369A>C, NP_004649.2:p.Glu788Ala, NP_001180450.1:p.Glu760Ala, NP_001180449.1:p.Glu790Ala, NP_001288131.1:p.Glu789Ala, NP_001381012.1:p.Glu789Ala, NP_001381010.1:p.Glu790Ala, NP_001381011.1:p.Glu789Ala, NP_001381014.1:p.Glu788Ala, NP_001381015.1:p.Glu761Ala, NP_001381013.1:p.Glu789Ala, NP_001381016.1:p.Glu726Ala, NP_001381017.1:p.Glu668Ala, NP_001381018.1:p.Glu567Ala, XP_005254007.1:p.Glu790Ala, XP_006719705.1:p.Glu789Ala, XP_006719704.1:p.Glu790Ala, XP_011537156.1:p.Glu431Ala, XP_047285633.1:p.Glu762Ala, XP_047285632.1:p.Glu790Ala

                8.

                rs1480161678 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:113105844 (GRCh38)
                  12:113543649 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:113105843:A:G
                  Gene:
                  RASAL1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.113105844A>G, NC_000012.11:g.113543649A>G, NG_047089.1:g.35396T>C, NM_004658.3:c.1697T>C, NM_004658.2:c.1697T>C, NM_001193521.3:c.1697T>C, NM_001193521.2:c.1697T>C, NM_001193521.1:c.1697T>C, NM_001193520.2:c.1703T>C, NM_001193520.1:c.1703T>C, NM_001301202.2:c.1700T>C, NM_001301202.1:c.1700T>C, NM_001394083.1:c.1700T>C, NM_001394081.1:c.1703T>C, NM_001394082.1:c.1700T>C, NM_001394085.1:c.1697T>C, NM_001394086.1:c.1700T>C, NM_001394084.1:c.1700T>C, NM_001394087.1:c.1511T>C, NM_001394088.1:c.1337T>C, NM_001394089.1:c.1034T>C, XM_005253950.5:c.1703T>C, XM_005253950.4:c.1703T>C, XM_005253950.3:c.1703T>C, XM_005253950.2:c.1703T>C, XM_005253950.1:c.1703T>C, XM_006719642.4:c.1700T>C, XM_006719642.3:c.1700T>C, XM_006719642.2:c.1700T>C, XM_006719642.1:c.1700T>C, XM_006719641.4:c.1703T>C, XM_006719641.3:c.1703T>C, XM_006719641.2:c.1703T>C, XM_006719641.1:c.1703T>C, XM_011538854.3:c.626T>C, XM_011538854.2:c.626T>C, XM_011538854.1:c.626T>C, XM_047429679.1:c.1700T>C, XM_047429678.1:c.1703T>C, XM_047429677.1:c.1703T>C, XM_047429676.1:c.1703T>C, XR_007063139.1:n.2002T>C, NP_004649.2:p.Ile566Thr, NP_001180450.1:p.Ile566Thr, NP_001180449.1:p.Ile568Thr, NP_001288131.1:p.Ile567Thr, NP_001381012.1:p.Ile567Thr, NP_001381010.1:p.Ile568Thr, NP_001381011.1:p.Ile567Thr, NP_001381014.1:p.Ile566Thr, NP_001381015.1:p.Ile567Thr, NP_001381013.1:p.Ile567Thr, NP_001381016.1:p.Ile504Thr, NP_001381017.1:p.Ile446Thr, NP_001381018.1:p.Ile345Thr, XP_005254007.1:p.Ile568Thr, XP_006719705.1:p.Ile567Thr, XP_006719704.1:p.Ile568Thr, XP_011537156.1:p.Ile209Thr, XP_047285635.1:p.Ile567Thr, XP_047285634.1:p.Ile568Thr, XP_047285633.1:p.Ile568Thr, XP_047285632.1:p.Ile568Thr

                  9.

                  rs1478850495 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:113115989 (GRCh38)
                    12:113553794 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:113115988:T:C
                    Gene:
                    RASAL1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_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_000012.12:g.113115989T>C, NC_000012.11:g.113553794T>C, NG_047089.1:g.25251A>G, NM_004658.3:c.794A>G, NM_004658.2:c.794A>G, NM_001193521.3:c.794A>G, NM_001193521.2:c.794A>G, NM_001193521.1:c.794A>G, NM_001193520.2:c.794A>G, NM_001193520.1:c.794A>G, NM_001301202.2:c.794A>G, NM_001301202.1:c.794A>G, NM_001394083.1:c.794A>G, NM_001394081.1:c.794A>G, NM_001394082.1:c.794A>G, NM_001394085.1:c.794A>G, NM_001394086.1:c.794A>G, NM_001394084.1:c.794A>G, NM_001394087.1:c.602A>G, NM_001394088.1:c.431A>G, NM_001394089.1:c.128A>G, XM_005253950.5:c.794A>G, XM_005253950.4:c.794A>G, XM_005253950.3:c.794A>G, XM_005253950.2:c.794A>G, XM_005253950.1:c.794A>G, XM_006719642.4:c.794A>G, XM_006719642.3:c.794A>G, XM_006719642.2:c.794A>G, XM_006719642.1:c.794A>G, XM_006719641.4:c.794A>G, XM_006719641.3:c.794A>G, XM_006719641.2:c.794A>G, XM_006719641.1:c.794A>G, XM_047429679.1:c.794A>G, XM_047429678.1:c.794A>G, XM_047429677.1:c.794A>G, XM_047429676.1:c.794A>G, XR_007063139.1:n.1093A>G, NP_004649.2:p.Gln265Arg, NP_001180450.1:p.Gln265Arg, NP_001180449.1:p.Gln265Arg, NP_001288131.1:p.Gln265Arg, NP_001381012.1:p.Gln265Arg, NP_001381010.1:p.Gln265Arg, NP_001381011.1:p.Gln265Arg, NP_001381014.1:p.Gln265Arg, NP_001381015.1:p.Gln265Arg, NP_001381013.1:p.Gln265Arg, NP_001381016.1:p.Gln201Arg, NP_001381017.1:p.Gln144Arg, NP_001381018.1:p.Gln43Arg, XP_005254007.1:p.Gln265Arg, XP_006719705.1:p.Gln265Arg, XP_006719704.1:p.Gln265Arg, XP_047285635.1:p.Gln265Arg, XP_047285634.1:p.Gln265Arg, XP_047285633.1:p.Gln265Arg, XP_047285632.1:p.Gln265Arg

                    10.

                    rs1476960167 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:113115227 (GRCh38)
                      12:113553032 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:113115226:T:C
                      Gene:
                      RASAL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (GnomAD_exomes)
                      C=0.000014/2 (GnomAD)
                      C=0.000015/4 (TOPMED)
                      C=0.000546/1 (Korea1K)
                      C=0.000684/2 (KOREAN)
                      HGVS:
                      NC_000012.12:g.113115227T>C, NC_000012.11:g.113553032T>C, NG_047089.1:g.26013A>G, NM_004658.3:c.1041A>G, NM_004658.2:c.1041A>G, NM_001193521.3:c.1041A>G, NM_001193521.2:c.1041A>G, NM_001193521.1:c.1041A>G, NM_001193520.2:c.1041A>G, NM_001193520.1:c.1041A>G, NM_001301202.2:c.1041A>G, NM_001301202.1:c.1041A>G, NM_001394083.1:c.1041A>G, NM_001394081.1:c.1041A>G, NM_001394082.1:c.1041A>G, NM_001394085.1:c.1041A>G, NM_001394086.1:c.1041A>G, NM_001394084.1:c.1041A>G, NM_001394087.1:c.849A>G, NM_001394088.1:c.678A>G, NM_001394089.1:c.375A>G, XM_005253950.5:c.1041A>G, XM_005253950.4:c.1041A>G, XM_005253950.3:c.1041A>G, XM_005253950.2:c.1041A>G, XM_005253950.1:c.1041A>G, XM_006719642.4:c.1041A>G, XM_006719642.3:c.1041A>G, XM_006719642.2:c.1041A>G, XM_006719642.1:c.1041A>G, XM_006719641.4:c.1041A>G, XM_006719641.3:c.1041A>G, XM_006719641.2:c.1041A>G, XM_006719641.1:c.1041A>G, XM_011538854.3:c.-68A>G, XM_011538854.2:c.-68A>G, XM_011538854.1:c.-68A>G, XM_047429679.1:c.1041A>G, XM_047429678.1:c.1041A>G, XM_047429677.1:c.1041A>G, XM_047429676.1:c.1041A>G, XR_007063139.1:n.1340A>G

                      11.

                      rs1474022063 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        12:113119166 (GRCh38)
                        12:113556971 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:113119165:C:G
                        Gene:
                        RASAL1 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.113119166C>G, NC_000012.11:g.113556971C>G, NG_047089.1:g.22074G>C, NM_004658.3:c.604G>C, NM_004658.2:c.604G>C, NM_001193521.3:c.604G>C, NM_001193521.2:c.604G>C, NM_001193521.1:c.604G>C, NM_001193520.2:c.604G>C, NM_001193520.1:c.604G>C, NM_001301202.2:c.604G>C, NM_001301202.1:c.604G>C, NM_001394083.1:c.604G>C, NM_001394081.1:c.604G>C, NM_001394082.1:c.604G>C, NM_001394085.1:c.604G>C, NM_001394086.1:c.604G>C, NM_001394084.1:c.604G>C, NM_001394087.1:c.412G>C, NM_001394088.1:c.241G>C, XM_005253950.5:c.604G>C, XM_005253950.4:c.604G>C, XM_005253950.3:c.604G>C, XM_005253950.2:c.604G>C, XM_005253950.1:c.604G>C, XM_006719642.4:c.604G>C, XM_006719642.3:c.604G>C, XM_006719642.2:c.604G>C, XM_006719642.1:c.604G>C, XM_006719641.4:c.604G>C, XM_006719641.3:c.604G>C, XM_006719641.2:c.604G>C, XM_006719641.1:c.604G>C, XM_047429679.1:c.604G>C, XM_047429678.1:c.604G>C, XM_047429677.1:c.604G>C, XM_047429676.1:c.604G>C, XR_007063139.1:n.903G>C, NP_004649.2:p.Asp202His, NP_001180450.1:p.Asp202His, NP_001180449.1:p.Asp202His, NP_001288131.1:p.Asp202His, NP_001381012.1:p.Asp202His, NP_001381010.1:p.Asp202His, NP_001381011.1:p.Asp202His, NP_001381014.1:p.Asp202His, NP_001381015.1:p.Asp202His, NP_001381013.1:p.Asp202His, NP_001381016.1:p.Asp138His, NP_001381017.1:p.Asp81His, XP_005254007.1:p.Asp202His, XP_006719705.1:p.Asp202His, XP_006719704.1:p.Asp202His, XP_047285635.1:p.Asp202His, XP_047285634.1:p.Asp202His, XP_047285633.1:p.Asp202His, XP_047285632.1:p.Asp202His

                        12.

                        rs1473265686 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          12:113115747 (GRCh38)
                          12:113553552 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:113115746:GG:G
                          Gene:
                          RASAL1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GG=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000012.12:g.113115748del, NC_000012.11:g.113553553del, NG_047089.1:g.25493del, NM_004658.3:c.891del, NM_004658.2:c.891del, NM_001193521.3:c.891del, NM_001193521.2:c.891del, NM_001193521.1:c.891del, NM_001193520.2:c.891del, NM_001193520.1:c.891del, NM_001301202.2:c.891del, NM_001301202.1:c.891del, NM_001394083.1:c.891del, NM_001394081.1:c.891del, NM_001394082.1:c.891del, NM_001394085.1:c.891del, NM_001394086.1:c.891del, NM_001394084.1:c.891del, NM_001394087.1:c.699del, NM_001394088.1:c.528del, NM_001394089.1:c.225del, XM_005253950.5:c.891del, XM_005253950.4:c.891del, XM_005253950.3:c.891del, XM_005253950.2:c.891del, XM_005253950.1:c.891del, XM_006719642.4:c.891del, XM_006719642.3:c.891del, XM_006719642.2:c.891del, XM_006719642.1:c.891del, XM_006719641.4:c.891del, XM_006719641.3:c.891del, XM_006719641.2:c.891del, XM_006719641.1:c.891del, XM_047429679.1:c.891del, XM_047429678.1:c.891del, XM_047429677.1:c.891del, XM_047429676.1:c.891del, XR_007063139.1:n.1190del, NP_004649.2:p.Leu298fs, NP_001180450.1:p.Leu298fs, NP_001180449.1:p.Leu298fs, NP_001288131.1:p.Leu298fs, NP_001381012.1:p.Leu298fs, NP_001381010.1:p.Leu298fs, NP_001381011.1:p.Leu298fs, NP_001381014.1:p.Leu298fs, NP_001381015.1:p.Leu298fs, NP_001381013.1:p.Leu298fs, NP_001381016.1:p.Leu234fs, NP_001381017.1:p.Leu177fs, NP_001381018.1:p.Leu76fs, XP_005254007.1:p.Leu298fs, XP_006719705.1:p.Leu298fs, XP_006719704.1:p.Leu298fs, XP_047285635.1:p.Leu298fs, XP_047285634.1:p.Leu298fs, XP_047285633.1:p.Leu298fs, XP_047285632.1:p.Leu298fs

                          13.

                          rs1471769416 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:113112236 (GRCh38)
                            12:113550041 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:113112235:C:T
                            Gene:
                            RASAL1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000012.12:g.113112236C>T, NC_000012.11:g.113550041C>T, NG_047089.1:g.29004G>A, NM_004658.3:c.1224G>A, NM_004658.2:c.1224G>A, NM_001193521.3:c.1224G>A, NM_001193521.2:c.1224G>A, NM_001193521.1:c.1224G>A, NM_001193520.2:c.1224G>A, NM_001193520.1:c.1224G>A, NM_001301202.2:c.1224G>A, NM_001301202.1:c.1224G>A, NM_001394083.1:c.1224G>A, NM_001394081.1:c.1224G>A, NM_001394082.1:c.1224G>A, NM_001394085.1:c.1224G>A, NM_001394086.1:c.1224G>A, NM_001394084.1:c.1224G>A, NM_001394087.1:c.1032G>A, NM_001394088.1:c.861G>A, NM_001394089.1:c.558G>A, XM_005253950.5:c.1224G>A, XM_005253950.4:c.1224G>A, XM_005253950.3:c.1224G>A, XM_005253950.2:c.1224G>A, XM_005253950.1:c.1224G>A, XM_006719642.4:c.1224G>A, XM_006719642.3:c.1224G>A, XM_006719642.2:c.1224G>A, XM_006719642.1:c.1224G>A, XM_006719641.4:c.1224G>A, XM_006719641.3:c.1224G>A, XM_006719641.2:c.1224G>A, XM_006719641.1:c.1224G>A, XM_011538854.3:c.147G>A, XM_011538854.2:c.147G>A, XM_011538854.1:c.147G>A, XM_047429679.1:c.1224G>A, XM_047429678.1:c.1224G>A, XM_047429677.1:c.1224G>A, XM_047429676.1:c.1224G>A, XR_007063139.1:n.1523G>A

                            14.

                            rs1470639894 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:113104211 (GRCh38)
                              12:113542016 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:113104210:C:T
                              Gene:
                              RASAL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000051/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.113104211C>T, NC_000012.11:g.113542016C>T, NG_047089.1:g.37029G>A, NM_004658.3:c.1915G>A, NM_004658.2:c.1915G>A, NM_001193521.3:c.1831G>A, NM_001193521.2:c.1831G>A, NM_001193521.1:c.1831G>A, NM_001193520.2:c.1921G>A, NM_001193520.1:c.1921G>A, NM_001301202.2:c.1918G>A, NM_001301202.1:c.1918G>A, NM_001394083.1:c.1918G>A, NM_001394081.1:c.1921G>A, NM_001394082.1:c.1918G>A, NM_001394085.1:c.1915G>A, NM_001394086.1:c.1834G>A, NM_001394084.1:c.1918G>A, NM_001394087.1:c.1729G>A, NM_001394088.1:c.1555G>A, NM_001394089.1:c.1252G>A, XM_005253950.5:c.1921G>A, XM_005253950.4:c.1921G>A, XM_005253950.3:c.1921G>A, XM_005253950.2:c.1921G>A, XM_005253950.1:c.1921G>A, XM_006719642.4:c.1918G>A, XM_006719642.3:c.1918G>A, XM_006719642.2:c.1918G>A, XM_006719642.1:c.1918G>A, XM_006719641.4:c.1921G>A, XM_006719641.3:c.1921G>A, XM_006719641.2:c.1921G>A, XM_006719641.1:c.1921G>A, XM_011538854.3:c.844G>A, XM_011538854.2:c.844G>A, XM_011538854.1:c.844G>A, XM_047429679.1:c.1918G>A, XM_047429678.1:c.1921G>A, XM_047429677.1:c.1837G>A, XM_047429676.1:c.1921G>A, XR_007063139.1:n.2220G>A, NP_004649.2:p.Val639Met, NP_001180450.1:p.Val611Met, NP_001180449.1:p.Val641Met, NP_001288131.1:p.Val640Met, NP_001381012.1:p.Val640Met, NP_001381010.1:p.Val641Met, NP_001381011.1:p.Val640Met, NP_001381014.1:p.Val639Met, NP_001381015.1:p.Val612Met, NP_001381013.1:p.Val640Met, NP_001381016.1:p.Val577Met, NP_001381017.1:p.Val519Met, NP_001381018.1:p.Val418Met, XP_005254007.1:p.Val641Met, XP_006719705.1:p.Val640Met, XP_006719704.1:p.Val641Met, XP_011537156.1:p.Val282Met, XP_047285635.1:p.Val640Met, XP_047285634.1:p.Val641Met, XP_047285633.1:p.Val613Met, XP_047285632.1:p.Val641Met

                              15.

                              rs1469292923 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                12:113105793 (GRCh38)
                                12:113543598 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:113105792:G:A,NC_000012.12:113105792:G:T
                                Gene:
                                RASAL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.113105793G>A, NC_000012.12:g.113105793G>T, NC_000012.11:g.113543598G>A, NC_000012.11:g.113543598G>T, NG_047089.1:g.35447C>T, NG_047089.1:g.35447C>A, NM_004658.3:c.1748C>T, NM_004658.3:c.1748C>A, NM_004658.2:c.1748C>T, NM_004658.2:c.1748C>A, NM_001193521.3:c.1748C>T, NM_001193521.3:c.1748C>A, NM_001193521.2:c.1748C>T, NM_001193521.2:c.1748C>A, NM_001193521.1:c.1748C>T, NM_001193521.1:c.1748C>A, NM_001193520.2:c.1754C>T, NM_001193520.2:c.1754C>A, NM_001193520.1:c.1754C>T, NM_001193520.1:c.1754C>A, NM_001301202.2:c.1751C>T, NM_001301202.2:c.1751C>A, NM_001301202.1:c.1751C>T, NM_001301202.1:c.1751C>A, NM_001394083.1:c.1751C>T, NM_001394083.1:c.1751C>A, NM_001394081.1:c.1754C>T, NM_001394081.1:c.1754C>A, NM_001394082.1:c.1751C>T, NM_001394082.1:c.1751C>A, NM_001394085.1:c.1748C>T, NM_001394085.1:c.1748C>A, NM_001394086.1:c.1751C>T, NM_001394086.1:c.1751C>A, NM_001394084.1:c.1751C>T, NM_001394084.1:c.1751C>A, NM_001394087.1:c.1562C>T, NM_001394087.1:c.1562C>A, NM_001394088.1:c.1388C>T, NM_001394088.1:c.1388C>A, NM_001394089.1:c.1085C>T, NM_001394089.1:c.1085C>A, XM_005253950.5:c.1754C>T, XM_005253950.5:c.1754C>A, XM_005253950.4:c.1754C>T, XM_005253950.4:c.1754C>A, XM_005253950.3:c.1754C>T, XM_005253950.3:c.1754C>A, XM_005253950.2:c.1754C>T, XM_005253950.2:c.1754C>A, XM_005253950.1:c.1754C>T, XM_005253950.1:c.1754C>A, XM_006719642.4:c.1751C>T, XM_006719642.4:c.1751C>A, XM_006719642.3:c.1751C>T, XM_006719642.3:c.1751C>A, XM_006719642.2:c.1751C>T, XM_006719642.2:c.1751C>A, XM_006719642.1:c.1751C>T, XM_006719642.1:c.1751C>A, XM_006719641.4:c.1754C>T, XM_006719641.4:c.1754C>A, XM_006719641.3:c.1754C>T, XM_006719641.3:c.1754C>A, XM_006719641.2:c.1754C>T, XM_006719641.2:c.1754C>A, XM_006719641.1:c.1754C>T, XM_006719641.1:c.1754C>A, XM_011538854.3:c.677C>T, XM_011538854.3:c.677C>A, XM_011538854.2:c.677C>T, XM_011538854.2:c.677C>A, XM_011538854.1:c.677C>T, XM_011538854.1:c.677C>A, XM_047429679.1:c.1751C>T, XM_047429679.1:c.1751C>A, XM_047429678.1:c.1754C>T, XM_047429678.1:c.1754C>A, XM_047429677.1:c.1754C>T, XM_047429677.1:c.1754C>A, XM_047429676.1:c.1754C>T, XM_047429676.1:c.1754C>A, XR_007063139.1:n.2053C>T, XR_007063139.1:n.2053C>A, NP_004649.2:p.Ala583Val, NP_004649.2:p.Ala583Asp, NP_001180450.1:p.Ala583Val, NP_001180450.1:p.Ala583Asp, NP_001180449.1:p.Ala585Val, NP_001180449.1:p.Ala585Asp, NP_001288131.1:p.Ala584Val, NP_001288131.1:p.Ala584Asp, NP_001381012.1:p.Ala584Val, NP_001381012.1:p.Ala584Asp, NP_001381010.1:p.Ala585Val, NP_001381010.1:p.Ala585Asp, NP_001381011.1:p.Ala584Val, NP_001381011.1:p.Ala584Asp, NP_001381014.1:p.Ala583Val, NP_001381014.1:p.Ala583Asp, NP_001381015.1:p.Ala584Val, NP_001381015.1:p.Ala584Asp, NP_001381013.1:p.Ala584Val, NP_001381013.1:p.Ala584Asp, NP_001381016.1:p.Ala521Val, NP_001381016.1:p.Ala521Asp, NP_001381017.1:p.Ala463Val, NP_001381017.1:p.Ala463Asp, NP_001381018.1:p.Ala362Val, NP_001381018.1:p.Ala362Asp, XP_005254007.1:p.Ala585Val, XP_005254007.1:p.Ala585Asp, XP_006719705.1:p.Ala584Val, XP_006719705.1:p.Ala584Asp, XP_006719704.1:p.Ala585Val, XP_006719704.1:p.Ala585Asp, XP_011537156.1:p.Ala226Val, XP_011537156.1:p.Ala226Asp, XP_047285635.1:p.Ala584Val, XP_047285635.1:p.Ala584Asp, XP_047285634.1:p.Ala585Val, XP_047285634.1:p.Ala585Asp, XP_047285633.1:p.Ala585Val, XP_047285633.1:p.Ala585Asp, XP_047285632.1:p.Ala585Val, XP_047285632.1:p.Ala585Asp

                                16.

                                rs1469072356 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TCCTCCACTCGC>- [Show Flanks]
                                  Chromosome:
                                  12:113112111 (GRCh38)
                                  12:113549916 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:113112107:CGCTCCTCCACTCGC:CGC
                                  Gene:
                                  RASAL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
                                  HGVS:
                                  NC_000012.12:g.113112111_113112122del, NC_000012.11:g.113549916_113549927del, NG_047089.1:g.29121_29132del, NM_004658.3:c.1341_1352del, NM_004658.2:c.1341_1352del, NM_001193521.3:c.1341_1352del, NM_001193521.2:c.1341_1352del, NM_001193521.1:c.1341_1352del, NM_001193520.2:c.1341_1352del, NM_001193520.1:c.1341_1352del, NM_001301202.2:c.1341_1352del, NM_001301202.1:c.1341_1352del, NM_001394083.1:c.1341_1352del, NM_001394081.1:c.1341_1352del, NM_001394082.1:c.1341_1352del, NM_001394085.1:c.1341_1352del, NM_001394086.1:c.1341_1352del, NM_001394084.1:c.1341_1352del, NM_001394087.1:c.1149_1160del, NM_001394088.1:c.978_989del, NM_001394089.1:c.675_686del, XM_005253950.5:c.1341_1352del, XM_005253950.4:c.1341_1352del, XM_005253950.3:c.1341_1352del, XM_005253950.2:c.1341_1352del, XM_005253950.1:c.1341_1352del, XM_006719642.4:c.1341_1352del, XM_006719642.3:c.1341_1352del, XM_006719642.2:c.1341_1352del, XM_006719642.1:c.1341_1352del, XM_006719641.4:c.1341_1352del, XM_006719641.3:c.1341_1352del, XM_006719641.2:c.1341_1352del, XM_006719641.1:c.1341_1352del, XM_011538854.3:c.264_275del, XM_011538854.2:c.264_275del, XM_011538854.1:c.264_275del, XM_047429679.1:c.1341_1352del, XM_047429678.1:c.1341_1352del, XM_047429677.1:c.1341_1352del, XM_047429676.1:c.1341_1352del, XR_007063139.1:n.1640_1651del, NP_004649.2:p.Val448_Arg451del, NP_001180450.1:p.Val448_Arg451del, NP_001180449.1:p.Val448_Arg451del, NP_001288131.1:p.Val448_Arg451del, NP_001381012.1:p.Val448_Arg451del, NP_001381010.1:p.Val448_Arg451del, NP_001381011.1:p.Val448_Arg451del, NP_001381014.1:p.Val448_Arg451del, NP_001381015.1:p.Val448_Arg451del, NP_001381013.1:p.Val448_Arg451del, NP_001381016.1:p.Val384_Arg387del, NP_001381017.1:p.Val327_Arg330del, NP_001381018.1:p.Val226_Arg229del, XP_005254007.1:p.Val448_Arg451del, XP_006719705.1:p.Val448_Arg451del, XP_006719704.1:p.Val448_Arg451del, XP_011537156.1:p.Val89_Arg92del, XP_047285635.1:p.Val448_Arg451del, XP_047285634.1:p.Val448_Arg451del, XP_047285633.1:p.Val448_Arg451del, XP_047285632.1:p.Val448_Arg451del

                                  17.

                                  rs1469026104 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    12:113100640 (GRCh38)
                                    12:113538445 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:113100639:C:A
                                    Gene:
                                    RASAL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.113100640C>A, NC_000012.11:g.113538445C>A, NG_047089.1:g.40600G>T, NM_004658.3:c.2263G>T, NM_004658.2:c.2263G>T, NM_001193521.3:c.2179G>T, NM_001193521.2:c.2179G>T, NM_001193521.1:c.2179G>T, NM_001193520.2:c.2269G>T, NM_001193520.1:c.2269G>T, NM_001301202.2:c.2266G>T, NM_001301202.1:c.2266G>T, NM_001394083.1:c.2266G>T, NM_001394081.1:c.2269G>T, NM_001394082.1:c.2266G>T, NM_001394085.1:c.2263G>T, NM_001394086.1:c.2182G>T, NM_001394084.1:c.2266G>T, NM_001394087.1:c.2077G>T, NM_001394088.1:c.1903G>T, NM_001394089.1:c.1600G>T, XM_005253950.5:c.2269G>T, XM_005253950.4:c.2269G>T, XM_005253950.3:c.2269G>T, XM_005253950.2:c.2269G>T, XM_005253950.1:c.2269G>T, XM_006719642.4:c.2266G>T, XM_006719642.3:c.2266G>T, XM_006719642.2:c.2266G>T, XM_006719642.1:c.2266G>T, XM_006719641.4:c.2269G>T, XM_006719641.3:c.2269G>T, XM_006719641.2:c.2269G>T, XM_006719641.1:c.2269G>T, XM_011538854.3:c.1192G>T, XM_011538854.2:c.1192G>T, XM_011538854.1:c.1192G>T, XM_047429677.1:c.2185G>T, XM_047429676.1:c.2269G>T, NP_004649.2:p.Glu755Ter, NP_001180450.1:p.Glu727Ter, NP_001180449.1:p.Glu757Ter, NP_001288131.1:p.Glu756Ter, NP_001381012.1:p.Glu756Ter, NP_001381010.1:p.Glu757Ter, NP_001381011.1:p.Glu756Ter, NP_001381014.1:p.Glu755Ter, NP_001381015.1:p.Glu728Ter, NP_001381013.1:p.Glu756Ter, NP_001381016.1:p.Glu693Ter, NP_001381017.1:p.Glu635Ter, NP_001381018.1:p.Glu534Ter, XP_005254007.1:p.Glu757Ter, XP_006719705.1:p.Glu756Ter, XP_006719704.1:p.Glu757Ter, XP_011537156.1:p.Glu398Ter, XP_047285633.1:p.Glu729Ter, XP_047285632.1:p.Glu757Ter

                                    18.

                                    rs1468650329 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AC>- [Show Flanks]
                                      Chromosome:
                                      12:113101925 (GRCh38)
                                      12:113539730 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:113101922:ACAC:AC
                                      Gene:
                                      RASAL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ACAC=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.113101923AC[1], NC_000012.11:g.113539728AC[1], NG_047089.1:g.39314GT[1], NM_004658.3:c.2187_2188del, NM_004658.2:c.2187_2188del, NM_001193521.3:c.2103_2104del, NM_001193521.2:c.2103_2104del, NM_001193521.1:c.2103_2104del, NM_001193520.2:c.2193_2194del, NM_001193520.1:c.2193_2194del, NM_001301202.2:c.2190_2191del, NM_001301202.1:c.2190_2191del, NM_001394083.1:c.2190_2191del, NM_001394081.1:c.2193_2194del, NM_001394082.1:c.2190_2191del, NM_001394085.1:c.2187_2188del, NM_001394086.1:c.2106_2107del, NM_001394084.1:c.2190_2191del, NM_001394087.1:c.2001_2002del, NM_001394088.1:c.1827_1828del, NM_001394089.1:c.1524_1525del, XM_005253950.5:c.2193_2194del, XM_005253950.4:c.2193_2194del, XM_005253950.3:c.2193_2194del, XM_005253950.2:c.2193_2194del, XM_005253950.1:c.2193_2194del, XM_006719642.4:c.2190_2191del, XM_006719642.3:c.2190_2191del, XM_006719642.2:c.2190_2191del, XM_006719642.1:c.2190_2191del, XM_006719641.4:c.2193_2194del, XM_006719641.3:c.2193_2194del, XM_006719641.2:c.2193_2194del, XM_006719641.1:c.2193_2194del, XM_011538854.3:c.1116_1117del, XM_011538854.2:c.1116_1117del, XM_011538854.1:c.1116_1117del, XM_047429679.1:c.*1155GT[1], XM_047429678.1:c.*1155GT[1], XM_047429677.1:c.2109_2110del, XM_047429676.1:c.2193_2194del, XR_007063139.1:n.2646GT[1], NP_004649.2:p.Tyr730fs, NP_001180450.1:p.Tyr702fs, NP_001180449.1:p.Tyr732fs, NP_001288131.1:p.Tyr731fs, NP_001381012.1:p.Tyr731fs, NP_001381010.1:p.Tyr732fs, NP_001381011.1:p.Tyr731fs, NP_001381014.1:p.Tyr730fs, NP_001381015.1:p.Tyr703fs, NP_001381013.1:p.Tyr731fs, NP_001381016.1:p.Tyr668fs, NP_001381017.1:p.Tyr610fs, NP_001381018.1:p.Tyr509fs, XP_005254007.1:p.Tyr732fs, XP_006719705.1:p.Tyr731fs, XP_006719704.1:p.Tyr732fs, XP_011537156.1:p.Tyr373fs, XP_047285633.1:p.Tyr704fs, XP_047285632.1:p.Tyr732fs

                                      19.

                                      rs1466570475 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        12:113119391 (GRCh38)
                                        12:113557196 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:113119390:A:G
                                        Gene:
                                        RASAL1 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000057/2 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        G=0.00002/5 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.113119391A>G, NC_000012.11:g.113557196A>G, NG_047089.1:g.21849T>C, NM_004658.3:c.481T>C, NM_004658.2:c.481T>C, NM_001193521.3:c.481T>C, NM_001193521.2:c.481T>C, NM_001193521.1:c.481T>C, NM_001193520.2:c.481T>C, NM_001193520.1:c.481T>C, NM_001301202.2:c.481T>C, NM_001301202.1:c.481T>C, NM_001394083.1:c.481T>C, NM_001394081.1:c.481T>C, NM_001394082.1:c.481T>C, NM_001394085.1:c.481T>C, NM_001394086.1:c.481T>C, NM_001394084.1:c.481T>C, NM_001394087.1:c.289T>C, NM_001394088.1:c.118T>C, XM_005253950.5:c.481T>C, XM_005253950.4:c.481T>C, XM_005253950.3:c.481T>C, XM_005253950.2:c.481T>C, XM_005253950.1:c.481T>C, XM_006719642.4:c.481T>C, XM_006719642.3:c.481T>C, XM_006719642.2:c.481T>C, XM_006719642.1:c.481T>C, XM_006719641.4:c.481T>C, XM_006719641.3:c.481T>C, XM_006719641.2:c.481T>C, XM_006719641.1:c.481T>C, XM_047429679.1:c.481T>C, XM_047429678.1:c.481T>C, XM_047429677.1:c.481T>C, XM_047429676.1:c.481T>C, XR_007063139.1:n.780T>C, NP_004649.2:p.Phe161Leu, NP_001180450.1:p.Phe161Leu, NP_001180449.1:p.Phe161Leu, NP_001288131.1:p.Phe161Leu, NP_001381012.1:p.Phe161Leu, NP_001381010.1:p.Phe161Leu, NP_001381011.1:p.Phe161Leu, NP_001381014.1:p.Phe161Leu, NP_001381015.1:p.Phe161Leu, NP_001381013.1:p.Phe161Leu, NP_001381016.1:p.Phe97Leu, NP_001381017.1:p.Phe40Leu, XP_005254007.1:p.Phe161Leu, XP_006719705.1:p.Phe161Leu, XP_006719704.1:p.Phe161Leu, XP_047285635.1:p.Phe161Leu, XP_047285634.1:p.Phe161Leu, XP_047285633.1:p.Phe161Leu, XP_047285632.1:p.Phe161Leu

                                        20.

                                        rs1465312992 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:113115250 (GRCh38)
                                          12:113553055 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:113115249:G:A
                                          Gene:
                                          RASAL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000094/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.113115250G>A, NC_000012.11:g.113553055G>A, NG_047089.1:g.25990C>T, NM_004658.3:c.1018C>T, NM_004658.2:c.1018C>T, NM_001193521.3:c.1018C>T, NM_001193521.2:c.1018C>T, NM_001193521.1:c.1018C>T, NM_001193520.2:c.1018C>T, NM_001193520.1:c.1018C>T, NM_001301202.2:c.1018C>T, NM_001301202.1:c.1018C>T, NM_001394083.1:c.1018C>T, NM_001394081.1:c.1018C>T, NM_001394082.1:c.1018C>T, NM_001394085.1:c.1018C>T, NM_001394086.1:c.1018C>T, NM_001394084.1:c.1018C>T, NM_001394087.1:c.826C>T, NM_001394088.1:c.655C>T, NM_001394089.1:c.352C>T, XM_005253950.5:c.1018C>T, XM_005253950.4:c.1018C>T, XM_005253950.3:c.1018C>T, XM_005253950.2:c.1018C>T, XM_005253950.1:c.1018C>T, XM_006719642.4:c.1018C>T, XM_006719642.3:c.1018C>T, XM_006719642.2:c.1018C>T, XM_006719642.1:c.1018C>T, XM_006719641.4:c.1018C>T, XM_006719641.3:c.1018C>T, XM_006719641.2:c.1018C>T, XM_006719641.1:c.1018C>T, XM_011538854.3:c.-91C>T, XM_011538854.2:c.-91C>T, XM_011538854.1:c.-91C>T, XM_047429679.1:c.1018C>T, XM_047429678.1:c.1018C>T, XM_047429677.1:c.1018C>T, XM_047429676.1:c.1018C>T, XR_007063139.1:n.1317C>T, NP_004649.2:p.Leu340Phe, NP_001180450.1:p.Leu340Phe, NP_001180449.1:p.Leu340Phe, NP_001288131.1:p.Leu340Phe, NP_001381012.1:p.Leu340Phe, NP_001381010.1:p.Leu340Phe, NP_001381011.1:p.Leu340Phe, NP_001381014.1:p.Leu340Phe, NP_001381015.1:p.Leu340Phe, NP_001381013.1:p.Leu340Phe, NP_001381016.1:p.Leu276Phe, NP_001381017.1:p.Leu219Phe, NP_001381018.1:p.Leu118Phe, XP_005254007.1:p.Leu340Phe, XP_006719705.1:p.Leu340Phe, XP_006719704.1:p.Leu340Phe, XP_047285635.1:p.Leu340Phe, XP_047285634.1:p.Leu340Phe, XP_047285633.1:p.Leu340Phe, XP_047285632.1:p.Leu340Phe

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...