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Items: 1 to 20 of 1763

1.

rs1491002695 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    14:35742390 (GRCh38)
    14:36211596 (GRCh37)
    Canonical SPDI:
    NC_000014.9:35742389:T:C
    Gene:
    RALGAPA1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000014.9:g.35742390T>C, NC_000014.8:g.36211596T>C, NG_051667.1:g.71934A>G, NM_194301.4:c.1427A>G, NM_194301.3:c.1427A>G, NM_194301.2:c.1427A>G, NM_001330075.3:c.1427A>G, NM_001330075.2:c.1427A>G, NM_001330075.1:c.1427A>G, NM_001283044.3:c.1427A>G, NM_001283044.2:c.1427A>G, NM_001283044.1:c.1427A>G, NM_001283043.3:c.1427A>G, NM_001283043.2:c.1427A>G, NM_001283043.1:c.1427A>G, NM_014990.3:c.1427A>G, NM_014990.2:c.1427A>G, NM_014990.1:c.1427A>G, NM_001346249.2:c.1427A>G, NM_001346249.1:c.1427A>G, NM_001346248.2:c.1427A>G, NM_001346248.1:c.1427A>G, NM_001346245.2:c.1427A>G, NM_001346245.1:c.1427A>G, NM_001346247.2:c.1427A>G, NM_001346247.1:c.1427A>G, NM_001346243.2:c.1427A>G, NM_001346243.1:c.1427A>G, NM_001346246.2:c.1427A>G, NM_001346246.1:c.1427A>G, XM_006720100.5:c.1427A>G, XM_006720100.4:c.1427A>G, XM_006720100.3:c.1427A>G, XM_006720100.2:c.1427A>G, XM_006720100.1:c.1427A>G, XM_005267492.5:c.1427A>G, XM_005267492.4:c.1427A>G, XM_005267492.3:c.1427A>G, XM_005267492.2:c.1427A>G, XM_005267492.1:c.1427A>G, XM_006720104.5:c.1427A>G, XM_006720104.4:c.1427A>G, XM_006720104.3:c.1427A>G, XM_006720104.2:c.1427A>G, XM_006720104.1:c.1427A>G, XM_011536615.4:c.1427A>G, XM_011536615.3:c.1427A>G, XM_011536615.2:c.1427A>G, XM_011536615.1:c.1427A>G, XM_006720101.4:c.1427A>G, XM_006720101.3:c.1427A>G, XM_006720101.2:c.1427A>G, XM_006720101.1:c.1427A>G, XM_006720098.4:c.1427A>G, XM_006720098.3:c.1427A>G, XM_006720098.2:c.1427A>G, XM_006720098.1:c.1427A>G, XM_006720099.4:c.1427A>G, XM_006720099.3:c.1427A>G, XM_006720099.2:c.1427A>G, XM_006720099.1:c.1427A>G, XM_017021143.3:c.1427A>G, XM_017021143.2:c.1427A>G, XM_017021143.1:c.1427A>G, XM_047431182.1:c.1427A>G, XR_007063998.1:n.1887A>G, NM_015639.1:c.1427A>G, NP_919277.2:p.Glu476Gly, NP_001317004.1:p.Glu476Gly, NP_001269973.1:p.Glu476Gly, NP_001269972.1:p.Glu476Gly, NP_055805.1:p.Glu476Gly, NP_001333178.1:p.Glu476Gly, NP_001333177.1:p.Glu476Gly, NP_001333174.1:p.Glu476Gly, NP_001333176.1:p.Glu476Gly, NP_001333172.1:p.Glu476Gly, NP_001333175.1:p.Glu476Gly, XP_006720163.1:p.Glu476Gly, XP_005267549.1:p.Glu476Gly, XP_006720167.1:p.Glu476Gly, XP_011534917.1:p.Glu476Gly, XP_006720164.1:p.Glu476Gly, XP_006720161.1:p.Glu476Gly, XP_006720162.1:p.Glu476Gly, XP_016876632.1:p.Glu476Gly, XP_047287138.1:p.Glu476Gly

    2.

    rs1490633544 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:35651830 (GRCh38)
      14:36121036 (GRCh37)
      Canonical SPDI:
      NC_000014.9:35651829:G:A
      Gene:
      RALGAPA1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.35651830G>A, NC_000014.8:g.36121036G>A, NG_051667.1:g.162494C>T, NM_194301.4:c.4133C>T, NM_194301.3:c.4133C>T, NM_194301.2:c.4133C>T, NM_001330075.3:c.5510C>T, NM_001330075.2:c.5510C>T, NM_001330075.1:c.5510C>T, NM_001283044.3:c.4274C>T, NM_001283044.2:c.4274C>T, NM_001283044.1:c.4274C>T, NM_001283043.3:c.4172C>T, NM_001283043.2:c.4172C>T, NM_001283043.1:c.4172C>T, NM_014990.3:c.4133C>T, NM_014990.2:c.4133C>T, NM_014990.1:c.4133C>T, NM_001346249.2:c.5651C>T, NM_001346249.1:c.5651C>T, NM_001346248.2:c.5510C>T, NM_001346248.1:c.5510C>T, NM_001346245.2:c.4274C>T, NM_001346245.1:c.4274C>T, NM_001346247.2:c.4274C>T, NM_001346247.1:c.4274C>T, NM_001346243.2:c.4133C>T, NM_001346243.1:c.4133C>T, NM_001346246.2:c.4133C>T, NM_001346246.1:c.4133C>T, XM_006720100.5:c.5510C>T, XM_006720100.4:c.5510C>T, XM_006720100.3:c.5510C>T, XM_006720100.2:c.5510C>T, XM_006720100.1:c.5510C>T, XM_005267492.5:c.4274C>T, XM_005267492.4:c.4274C>T, XM_005267492.3:c.4274C>T, XM_005267492.2:c.4274C>T, XM_005267492.1:c.4274C>T, XM_005267498.5:c.1856C>T, XM_005267498.4:c.1856C>T, XM_005267498.3:c.1856C>T, XM_005267498.2:c.1856C>T, XM_005267498.1:c.1856C>T, XM_011536615.4:c.5651C>T, XM_011536615.3:c.5651C>T, XM_011536615.2:c.5651C>T, XM_011536615.1:c.5651C>T, XM_006720101.4:c.5651C>T, XM_006720101.3:c.5651C>T, XM_006720101.2:c.5651C>T, XM_006720101.1:c.5651C>T, XM_006720098.4:c.5651C>T, XM_006720098.3:c.5651C>T, XM_006720098.2:c.5651C>T, XM_006720098.1:c.5651C>T, XM_006720099.4:c.5651C>T, XM_006720099.3:c.5651C>T, XM_006720099.2:c.5651C>T, XM_006720099.1:c.5651C>T, XM_017021143.3:c.5651C>T, XM_017021143.2:c.5651C>T, XM_017021143.1:c.5651C>T, XM_017021146.2:c.3383C>T, XM_017021146.1:c.3383C>T, XM_024449523.2:c.2603C>T, XM_024449523.1:c.2603C>T, XM_047431182.1:c.5510C>T, NM_015639.1:c.4133C>T, NP_919277.2:p.Ala1378Val, NP_001317004.1:p.Ala1837Val, NP_001269973.1:p.Ala1425Val, NP_001269972.1:p.Ala1391Val, NP_055805.1:p.Ala1378Val, NP_001333178.1:p.Ala1884Val, NP_001333177.1:p.Ala1837Val, NP_001333174.1:p.Ala1425Val, NP_001333176.1:p.Ala1425Val, NP_001333172.1:p.Ala1378Val, NP_001333175.1:p.Ala1378Val, XP_006720163.1:p.Ala1837Val, XP_005267549.1:p.Ala1425Val, XP_005267555.1:p.Ala619Val, XP_011534917.1:p.Ala1884Val, XP_006720164.1:p.Ala1884Val, XP_006720161.1:p.Ala1884Val, XP_006720162.1:p.Ala1884Val, XP_016876632.1:p.Ala1884Val, XP_016876635.1:p.Ala1128Val, XP_024305291.1:p.Ala868Val, XP_047287138.1:p.Ala1837Val

      3.

      rs1490577779 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:35627631 (GRCh38)
        14:36096837 (GRCh37)
        Canonical SPDI:
        NC_000014.9:35627630:G:A
        Gene:
        RALGAPA1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000009/2 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.35627631G>A, NC_000014.8:g.36096837G>A, NG_051667.1:g.186693C>T, NM_194301.4:c.4798C>T, NM_194301.3:c.4798C>T, NM_194301.2:c.4798C>T, NM_001330075.3:c.6175C>T, NM_001330075.2:c.6175C>T, NM_001330075.1:c.6175C>T, NM_001283044.3:c.4939C>T, NM_001283044.2:c.4939C>T, NM_001283044.1:c.4939C>T, NM_001283043.3:c.4837C>T, NM_001283043.2:c.4837C>T, NM_001283043.1:c.4837C>T, NM_014990.3:c.4798C>T, NM_014990.2:c.4798C>T, NM_014990.1:c.4798C>T, NM_001346249.2:c.6316C>T, NM_001346249.1:c.6316C>T, NM_001346248.2:c.6175C>T, NM_001346248.1:c.6175C>T, NM_001346245.2:c.4939C>T, NM_001346245.1:c.4939C>T, NM_001346247.2:c.4939C>T, NM_001346247.1:c.4939C>T, NM_001346243.2:c.4798C>T, NM_001346243.1:c.4798C>T, NM_001346246.2:c.4798C>T, NM_001346246.1:c.4798C>T, XM_006720100.5:c.6175C>T, XM_006720100.4:c.6175C>T, XM_006720100.3:c.6175C>T, XM_006720100.2:c.6175C>T, XM_006720100.1:c.6175C>T, XM_005267492.5:c.4939C>T, XM_005267492.4:c.4939C>T, XM_005267492.3:c.4939C>T, XM_005267492.2:c.4939C>T, XM_005267492.1:c.4939C>T, XM_005267498.5:c.2521C>T, XM_005267498.4:c.2521C>T, XM_005267498.3:c.2521C>T, XM_005267498.2:c.2521C>T, XM_005267498.1:c.2521C>T, XM_011536615.4:c.6316C>T, XM_011536615.3:c.6316C>T, XM_011536615.2:c.6316C>T, XM_011536615.1:c.6316C>T, XM_006720101.4:c.6316C>T, XM_006720101.3:c.6316C>T, XM_006720101.2:c.6316C>T, XM_006720101.1:c.6316C>T, XM_006720098.4:c.6316C>T, XM_006720098.3:c.6316C>T, XM_006720098.2:c.6316C>T, XM_006720098.1:c.6316C>T, XM_006720099.4:c.6316C>T, XM_006720099.3:c.6316C>T, XM_006720099.2:c.6316C>T, XM_006720099.1:c.6316C>T, XM_017021143.3:c.6316C>T, XM_017021143.2:c.6316C>T, XM_017021143.1:c.6316C>T, XM_017021146.2:c.4048C>T, XM_017021146.1:c.4048C>T, XM_024449523.2:c.3268C>T, XM_024449523.1:c.3268C>T, XM_047431182.1:c.6175C>T, NM_015639.1:c.4798C>T, NP_919277.2:p.Arg1600Cys, NP_001317004.1:p.Arg2059Cys, NP_001269973.1:p.Arg1647Cys, NP_001269972.1:p.Arg1613Cys, NP_055805.1:p.Arg1600Cys, NP_001333178.1:p.Arg2106Cys, NP_001333177.1:p.Arg2059Cys, NP_001333174.1:p.Arg1647Cys, NP_001333176.1:p.Arg1647Cys, NP_001333172.1:p.Arg1600Cys, NP_001333175.1:p.Arg1600Cys, XP_006720163.1:p.Arg2059Cys, XP_005267549.1:p.Arg1647Cys, XP_005267555.1:p.Arg841Cys, XP_011534917.1:p.Arg2106Cys, XP_006720164.1:p.Arg2106Cys, XP_006720161.1:p.Arg2106Cys, XP_006720162.1:p.Arg2106Cys, XP_016876632.1:p.Arg2106Cys, XP_016876635.1:p.Arg1350Cys, XP_024305291.1:p.Arg1090Cys, XP_047287138.1:p.Arg2059Cys

        4.

        rs1490430309 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          14:35627837 (GRCh38)
          14:36097043 (GRCh37)
          Canonical SPDI:
          NC_000014.9:35627836:C:G
          Gene:
          RALGAPA1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000014.9:g.35627837C>G, NC_000014.8:g.36097043C>G, NG_051667.1:g.186487G>C, NM_194301.4:c.4592G>C, NM_194301.3:c.4592G>C, NM_194301.2:c.4592G>C, NM_001330075.3:c.5969G>C, NM_001330075.2:c.5969G>C, NM_001330075.1:c.5969G>C, NM_001283044.3:c.4733G>C, NM_001283044.2:c.4733G>C, NM_001283044.1:c.4733G>C, NM_001283043.3:c.4631G>C, NM_001283043.2:c.4631G>C, NM_001283043.1:c.4631G>C, NM_014990.3:c.4592G>C, NM_014990.2:c.4592G>C, NM_014990.1:c.4592G>C, NM_001346249.2:c.6110G>C, NM_001346249.1:c.6110G>C, NM_001346248.2:c.5969G>C, NM_001346248.1:c.5969G>C, NM_001346245.2:c.4733G>C, NM_001346245.1:c.4733G>C, NM_001346247.2:c.4733G>C, NM_001346247.1:c.4733G>C, NM_001346243.2:c.4592G>C, NM_001346243.1:c.4592G>C, NM_001346246.2:c.4592G>C, NM_001346246.1:c.4592G>C, XM_006720100.5:c.5969G>C, XM_006720100.4:c.5969G>C, XM_006720100.3:c.5969G>C, XM_006720100.2:c.5969G>C, XM_006720100.1:c.5969G>C, XM_005267492.5:c.4733G>C, XM_005267492.4:c.4733G>C, XM_005267492.3:c.4733G>C, XM_005267492.2:c.4733G>C, XM_005267492.1:c.4733G>C, XM_005267498.5:c.2315G>C, XM_005267498.4:c.2315G>C, XM_005267498.3:c.2315G>C, XM_005267498.2:c.2315G>C, XM_005267498.1:c.2315G>C, XM_011536615.4:c.6110G>C, XM_011536615.3:c.6110G>C, XM_011536615.2:c.6110G>C, XM_011536615.1:c.6110G>C, XM_006720101.4:c.6110G>C, XM_006720101.3:c.6110G>C, XM_006720101.2:c.6110G>C, XM_006720101.1:c.6110G>C, XM_006720098.4:c.6110G>C, XM_006720098.3:c.6110G>C, XM_006720098.2:c.6110G>C, XM_006720098.1:c.6110G>C, XM_006720099.4:c.6110G>C, XM_006720099.3:c.6110G>C, XM_006720099.2:c.6110G>C, XM_006720099.1:c.6110G>C, XM_017021143.3:c.6110G>C, XM_017021143.2:c.6110G>C, XM_017021143.1:c.6110G>C, XM_017021146.2:c.3842G>C, XM_017021146.1:c.3842G>C, XM_024449523.2:c.3062G>C, XM_024449523.1:c.3062G>C, XM_047431182.1:c.5969G>C, NM_015639.1:c.4592G>C, NP_919277.2:p.Ser1531Thr, NP_001317004.1:p.Ser1990Thr, NP_001269973.1:p.Ser1578Thr, NP_001269972.1:p.Ser1544Thr, NP_055805.1:p.Ser1531Thr, NP_001333178.1:p.Ser2037Thr, NP_001333177.1:p.Ser1990Thr, NP_001333174.1:p.Ser1578Thr, NP_001333176.1:p.Ser1578Thr, NP_001333172.1:p.Ser1531Thr, NP_001333175.1:p.Ser1531Thr, XP_006720163.1:p.Ser1990Thr, XP_005267549.1:p.Ser1578Thr, XP_005267555.1:p.Ser772Thr, XP_011534917.1:p.Ser2037Thr, XP_006720164.1:p.Ser2037Thr, XP_006720161.1:p.Ser2037Thr, XP_006720162.1:p.Ser2037Thr, XP_016876632.1:p.Ser2037Thr, XP_016876635.1:p.Ser1281Thr, XP_024305291.1:p.Ser1021Thr, XP_047287138.1:p.Ser1990Thr

          5.

          rs1489882425 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:35748658 (GRCh38)
            14:36217864 (GRCh37)
            Canonical SPDI:
            NC_000014.9:35748657:T:C
            Gene:
            RALGAPA1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.35748658T>C, NC_000014.8:g.36217864T>C, NG_051667.1:g.65666A>G, NM_194301.4:c.1178A>G, NM_194301.3:c.1178A>G, NM_194301.2:c.1178A>G, NM_001330075.3:c.1178A>G, NM_001330075.2:c.1178A>G, NM_001330075.1:c.1178A>G, NM_001283044.3:c.1178A>G, NM_001283044.2:c.1178A>G, NM_001283044.1:c.1178A>G, NM_001283043.3:c.1178A>G, NM_001283043.2:c.1178A>G, NM_001283043.1:c.1178A>G, NM_014990.3:c.1178A>G, NM_014990.2:c.1178A>G, NM_014990.1:c.1178A>G, NM_001346249.2:c.1178A>G, NM_001346249.1:c.1178A>G, NM_001346248.2:c.1178A>G, NM_001346248.1:c.1178A>G, NM_001346245.2:c.1178A>G, NM_001346245.1:c.1178A>G, NM_001346247.2:c.1178A>G, NM_001346247.1:c.1178A>G, NM_001346243.2:c.1178A>G, NM_001346243.1:c.1178A>G, NM_001346246.2:c.1178A>G, NM_001346246.1:c.1178A>G, XM_006720100.5:c.1178A>G, XM_006720100.4:c.1178A>G, XM_006720100.3:c.1178A>G, XM_006720100.2:c.1178A>G, XM_006720100.1:c.1178A>G, XM_005267492.5:c.1178A>G, XM_005267492.4:c.1178A>G, XM_005267492.3:c.1178A>G, XM_005267492.2:c.1178A>G, XM_005267492.1:c.1178A>G, XM_006720104.5:c.1178A>G, XM_006720104.4:c.1178A>G, XM_006720104.3:c.1178A>G, XM_006720104.2:c.1178A>G, XM_006720104.1:c.1178A>G, XM_011536615.4:c.1178A>G, XM_011536615.3:c.1178A>G, XM_011536615.2:c.1178A>G, XM_011536615.1:c.1178A>G, XM_006720101.4:c.1178A>G, XM_006720101.3:c.1178A>G, XM_006720101.2:c.1178A>G, XM_006720101.1:c.1178A>G, XM_006720098.4:c.1178A>G, XM_006720098.3:c.1178A>G, XM_006720098.2:c.1178A>G, XM_006720098.1:c.1178A>G, XM_006720099.4:c.1178A>G, XM_006720099.3:c.1178A>G, XM_006720099.2:c.1178A>G, XM_006720099.1:c.1178A>G, XM_017021143.3:c.1178A>G, XM_017021143.2:c.1178A>G, XM_017021143.1:c.1178A>G, XM_047431182.1:c.1178A>G, XR_007063998.1:n.1638A>G, NM_015639.1:c.1178A>G, NP_919277.2:p.Asp393Gly, NP_001317004.1:p.Asp393Gly, NP_001269973.1:p.Asp393Gly, NP_001269972.1:p.Asp393Gly, NP_055805.1:p.Asp393Gly, NP_001333178.1:p.Asp393Gly, NP_001333177.1:p.Asp393Gly, NP_001333174.1:p.Asp393Gly, NP_001333176.1:p.Asp393Gly, NP_001333172.1:p.Asp393Gly, NP_001333175.1:p.Asp393Gly, XP_006720163.1:p.Asp393Gly, XP_005267549.1:p.Asp393Gly, XP_006720167.1:p.Asp393Gly, XP_011534917.1:p.Asp393Gly, XP_006720164.1:p.Asp393Gly, XP_006720161.1:p.Asp393Gly, XP_006720162.1:p.Asp393Gly, XP_016876632.1:p.Asp393Gly, XP_047287138.1:p.Asp393Gly

            6.

            rs1489676949 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              14:35723180 (GRCh38)
              14:36192386 (GRCh37)
              Canonical SPDI:
              NC_000014.9:35723179:A:G
              Gene:
              RALGAPA1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              G=0.000071/1 (TOMMO)
              G=0.000546/1 (Korea1K)
              G=0.001027/3 (KOREAN)
              HGVS:
              NC_000014.9:g.35723180A>G, NC_000014.8:g.36192386A>G, NG_051667.1:g.91144T>C, NM_194301.4:c.1951T>C, NM_194301.3:c.1951T>C, NM_194301.2:c.1951T>C, NM_001330075.3:c.1951T>C, NM_001330075.2:c.1951T>C, NM_001330075.1:c.1951T>C, NM_001283044.3:c.1951T>C, NM_001283044.2:c.1951T>C, NM_001283044.1:c.1951T>C, NM_001283043.3:c.1951T>C, NM_001283043.2:c.1951T>C, NM_001283043.1:c.1951T>C, NM_014990.3:c.1951T>C, NM_014990.2:c.1951T>C, NM_014990.1:c.1951T>C, NM_001346249.2:c.1951T>C, NM_001346249.1:c.1951T>C, NM_001346248.2:c.1951T>C, NM_001346248.1:c.1951T>C, NM_001346245.2:c.1951T>C, NM_001346245.1:c.1951T>C, NM_001346247.2:c.1951T>C, NM_001346247.1:c.1951T>C, NM_001346243.2:c.1951T>C, NM_001346243.1:c.1951T>C, NM_001346246.2:c.1951T>C, NM_001346246.1:c.1951T>C, XM_006720100.5:c.1951T>C, XM_006720100.4:c.1951T>C, XM_006720100.3:c.1951T>C, XM_006720100.2:c.1951T>C, XM_006720100.1:c.1951T>C, XM_005267492.5:c.1951T>C, XM_005267492.4:c.1951T>C, XM_005267492.3:c.1951T>C, XM_005267492.2:c.1951T>C, XM_005267492.1:c.1951T>C, XM_006720104.5:c.1951T>C, XM_006720104.4:c.1951T>C, XM_006720104.3:c.1951T>C, XM_006720104.2:c.1951T>C, XM_006720104.1:c.1951T>C, XM_011536615.4:c.1951T>C, XM_011536615.3:c.1951T>C, XM_011536615.2:c.1951T>C, XM_011536615.1:c.1951T>C, XM_006720101.4:c.1951T>C, XM_006720101.3:c.1951T>C, XM_006720101.2:c.1951T>C, XM_006720101.1:c.1951T>C, XM_006720098.4:c.1951T>C, XM_006720098.3:c.1951T>C, XM_006720098.2:c.1951T>C, XM_006720098.1:c.1951T>C, XM_006720099.4:c.1951T>C, XM_006720099.3:c.1951T>C, XM_006720099.2:c.1951T>C, XM_006720099.1:c.1951T>C, XM_017021143.3:c.1951T>C, XM_017021143.2:c.1951T>C, XM_017021143.1:c.1951T>C, XM_047431182.1:c.1951T>C, XR_007063998.1:n.2411T>C, NM_015639.1:c.1951T>C, NP_919277.2:p.Ser651Pro, NP_001317004.1:p.Ser651Pro, NP_001269973.1:p.Ser651Pro, NP_001269972.1:p.Ser651Pro, NP_055805.1:p.Ser651Pro, NP_001333178.1:p.Ser651Pro, NP_001333177.1:p.Ser651Pro, NP_001333174.1:p.Ser651Pro, NP_001333176.1:p.Ser651Pro, NP_001333172.1:p.Ser651Pro, NP_001333175.1:p.Ser651Pro, XP_006720163.1:p.Ser651Pro, XP_005267549.1:p.Ser651Pro, XP_006720167.1:p.Ser651Pro, XP_011534917.1:p.Ser651Pro, XP_006720164.1:p.Ser651Pro, XP_006720161.1:p.Ser651Pro, XP_006720162.1:p.Ser651Pro, XP_016876632.1:p.Ser651Pro, XP_047287138.1:p.Ser651Pro

              7.

              rs1489058927 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:35688950 (GRCh38)
                14:36158156 (GRCh37)
                Canonical SPDI:
                NC_000014.9:35688949:A:G
                Gene:
                RALGAPA1 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000014.9:g.35688950A>G, NC_000014.8:g.36158156A>G, NG_051667.1:g.125374T>C, NM_001330075.3:c.3320T>C, NM_001330075.2:c.3320T>C, NM_001330075.1:c.3320T>C, NM_001346249.2:c.3461T>C, NM_001346249.1:c.3461T>C, NM_001346248.2:c.3320T>C, NM_001346248.1:c.3320T>C, XM_006720100.5:c.3320T>C, XM_006720100.4:c.3320T>C, XM_006720100.3:c.3320T>C, XM_006720100.2:c.3320T>C, XM_006720100.1:c.3320T>C, XM_006720104.5:c.3461T>C, XM_006720104.4:c.3461T>C, XM_006720104.3:c.3461T>C, XM_006720104.2:c.3461T>C, XM_006720104.1:c.3461T>C, XM_011536615.4:c.3461T>C, XM_011536615.3:c.3461T>C, XM_011536615.2:c.3461T>C, XM_011536615.1:c.3461T>C, XM_006720101.4:c.3461T>C, XM_006720101.3:c.3461T>C, XM_006720101.2:c.3461T>C, XM_006720101.1:c.3461T>C, XM_006720098.4:c.3461T>C, XM_006720098.3:c.3461T>C, XM_006720098.2:c.3461T>C, XM_006720098.1:c.3461T>C, XM_006720099.4:c.3461T>C, XM_006720099.3:c.3461T>C, XM_006720099.2:c.3461T>C, XM_006720099.1:c.3461T>C, XM_017021143.3:c.3461T>C, XM_017021143.2:c.3461T>C, XM_017021143.1:c.3461T>C, XM_017021146.2:c.1193T>C, XM_017021146.1:c.1193T>C, XM_024449523.2:c.413T>C, XM_024449523.1:c.413T>C, XM_047431182.1:c.3320T>C, XR_007063998.1:n.3921T>C, NP_001317004.1:p.Phe1107Ser, NP_001333178.1:p.Phe1154Ser, NP_001333177.1:p.Phe1107Ser, XP_006720163.1:p.Phe1107Ser, XP_006720167.1:p.Phe1154Ser, XP_011534917.1:p.Phe1154Ser, XP_006720164.1:p.Phe1154Ser, XP_006720161.1:p.Phe1154Ser, XP_006720162.1:p.Phe1154Ser, XP_016876632.1:p.Phe1154Ser, XP_016876635.1:p.Phe398Ser, XP_024305291.1:p.Phe138Ser, XP_047287138.1:p.Phe1107Ser

                8.

                rs1488736000 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  14:35689624 (GRCh38)
                  14:36158830 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:35689623:C:G
                  Gene:
                  RALGAPA1 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000014.9:g.35689624C>G, NC_000014.8:g.36158830C>G, NG_051667.1:g.124700G>C, NM_001330075.3:c.2646G>C, NM_001330075.2:c.2646G>C, NM_001330075.1:c.2646G>C, NM_001346249.2:c.2787G>C, NM_001346249.1:c.2787G>C, NM_001346248.2:c.2646G>C, NM_001346248.1:c.2646G>C, XM_006720100.5:c.2646G>C, XM_006720100.4:c.2646G>C, XM_006720100.3:c.2646G>C, XM_006720100.2:c.2646G>C, XM_006720100.1:c.2646G>C, XM_006720104.5:c.2787G>C, XM_006720104.4:c.2787G>C, XM_006720104.3:c.2787G>C, XM_006720104.2:c.2787G>C, XM_006720104.1:c.2787G>C, XM_011536615.4:c.2787G>C, XM_011536615.3:c.2787G>C, XM_011536615.2:c.2787G>C, XM_011536615.1:c.2787G>C, XM_006720101.4:c.2787G>C, XM_006720101.3:c.2787G>C, XM_006720101.2:c.2787G>C, XM_006720101.1:c.2787G>C, XM_006720098.4:c.2787G>C, XM_006720098.3:c.2787G>C, XM_006720098.2:c.2787G>C, XM_006720098.1:c.2787G>C, XM_006720099.4:c.2787G>C, XM_006720099.3:c.2787G>C, XM_006720099.2:c.2787G>C, XM_006720099.1:c.2787G>C, XM_017021143.3:c.2787G>C, XM_017021143.2:c.2787G>C, XM_017021143.1:c.2787G>C, XM_017021146.2:c.519G>C, XM_017021146.1:c.519G>C, XM_024449523.2:c.-262G>C, XM_024449523.1:c.-262G>C, XM_047431182.1:c.2646G>C, XR_007063998.1:n.3247G>C, NP_001317004.1:p.Gln882His, NP_001333178.1:p.Gln929His, NP_001333177.1:p.Gln882His, XP_006720163.1:p.Gln882His, XP_006720167.1:p.Gln929His, XP_011534917.1:p.Gln929His, XP_006720164.1:p.Gln929His, XP_006720161.1:p.Gln929His, XP_006720162.1:p.Gln929His, XP_016876632.1:p.Gln929His, XP_016876635.1:p.Gln173His, XP_047287138.1:p.Gln882His

                  9.

                  rs1488399069 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:35627736 (GRCh38)
                    14:36096942 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:35627735:T:C
                    Gene:
                    RALGAPA1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.35627736T>C, NC_000014.8:g.36096942T>C, NG_051667.1:g.186588A>G, NM_194301.4:c.4693A>G, NM_194301.3:c.4693A>G, NM_194301.2:c.4693A>G, NM_001330075.3:c.6070A>G, NM_001330075.2:c.6070A>G, NM_001330075.1:c.6070A>G, NM_001283044.3:c.4834A>G, NM_001283044.2:c.4834A>G, NM_001283044.1:c.4834A>G, NM_001283043.3:c.4732A>G, NM_001283043.2:c.4732A>G, NM_001283043.1:c.4732A>G, NM_014990.3:c.4693A>G, NM_014990.2:c.4693A>G, NM_014990.1:c.4693A>G, NM_001346249.2:c.6211A>G, NM_001346249.1:c.6211A>G, NM_001346248.2:c.6070A>G, NM_001346248.1:c.6070A>G, NM_001346245.2:c.4834A>G, NM_001346245.1:c.4834A>G, NM_001346247.2:c.4834A>G, NM_001346247.1:c.4834A>G, NM_001346243.2:c.4693A>G, NM_001346243.1:c.4693A>G, NM_001346246.2:c.4693A>G, NM_001346246.1:c.4693A>G, XM_006720100.5:c.6070A>G, XM_006720100.4:c.6070A>G, XM_006720100.3:c.6070A>G, XM_006720100.2:c.6070A>G, XM_006720100.1:c.6070A>G, XM_005267492.5:c.4834A>G, XM_005267492.4:c.4834A>G, XM_005267492.3:c.4834A>G, XM_005267492.2:c.4834A>G, XM_005267492.1:c.4834A>G, XM_005267498.5:c.2416A>G, XM_005267498.4:c.2416A>G, XM_005267498.3:c.2416A>G, XM_005267498.2:c.2416A>G, XM_005267498.1:c.2416A>G, XM_011536615.4:c.6211A>G, XM_011536615.3:c.6211A>G, XM_011536615.2:c.6211A>G, XM_011536615.1:c.6211A>G, XM_006720101.4:c.6211A>G, XM_006720101.3:c.6211A>G, XM_006720101.2:c.6211A>G, XM_006720101.1:c.6211A>G, XM_006720098.4:c.6211A>G, XM_006720098.3:c.6211A>G, XM_006720098.2:c.6211A>G, XM_006720098.1:c.6211A>G, XM_006720099.4:c.6211A>G, XM_006720099.3:c.6211A>G, XM_006720099.2:c.6211A>G, XM_006720099.1:c.6211A>G, XM_017021143.3:c.6211A>G, XM_017021143.2:c.6211A>G, XM_017021143.1:c.6211A>G, XM_017021146.2:c.3943A>G, XM_017021146.1:c.3943A>G, XM_024449523.2:c.3163A>G, XM_024449523.1:c.3163A>G, XM_047431182.1:c.6070A>G, NM_015639.1:c.4693A>G, NP_919277.2:p.Thr1565Ala, NP_001317004.1:p.Thr2024Ala, NP_001269973.1:p.Thr1612Ala, NP_001269972.1:p.Thr1578Ala, NP_055805.1:p.Thr1565Ala, NP_001333178.1:p.Thr2071Ala, NP_001333177.1:p.Thr2024Ala, NP_001333174.1:p.Thr1612Ala, NP_001333176.1:p.Thr1612Ala, NP_001333172.1:p.Thr1565Ala, NP_001333175.1:p.Thr1565Ala, XP_006720163.1:p.Thr2024Ala, XP_005267549.1:p.Thr1612Ala, XP_005267555.1:p.Thr806Ala, XP_011534917.1:p.Thr2071Ala, XP_006720164.1:p.Thr2071Ala, XP_006720161.1:p.Thr2071Ala, XP_006720162.1:p.Thr2071Ala, XP_016876632.1:p.Thr2071Ala, XP_016876635.1:p.Thr1315Ala, XP_024305291.1:p.Thr1055Ala, XP_047287138.1:p.Thr2024Ala

                    10.

                    rs1488333801 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:35742405 (GRCh38)
                      14:36211611 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:35742404:T:C
                      Gene:
                      RALGAPA1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.35742405T>C, NC_000014.8:g.36211611T>C, NG_051667.1:g.71919A>G, NM_194301.4:c.1412A>G, NM_194301.3:c.1412A>G, NM_194301.2:c.1412A>G, NM_001330075.3:c.1412A>G, NM_001330075.2:c.1412A>G, NM_001330075.1:c.1412A>G, NM_001283044.3:c.1412A>G, NM_001283044.2:c.1412A>G, NM_001283044.1:c.1412A>G, NM_001283043.3:c.1412A>G, NM_001283043.2:c.1412A>G, NM_001283043.1:c.1412A>G, NM_014990.3:c.1412A>G, NM_014990.2:c.1412A>G, NM_014990.1:c.1412A>G, NM_001346249.2:c.1412A>G, NM_001346249.1:c.1412A>G, NM_001346248.2:c.1412A>G, NM_001346248.1:c.1412A>G, NM_001346245.2:c.1412A>G, NM_001346245.1:c.1412A>G, NM_001346247.2:c.1412A>G, NM_001346247.1:c.1412A>G, NM_001346243.2:c.1412A>G, NM_001346243.1:c.1412A>G, NM_001346246.2:c.1412A>G, NM_001346246.1:c.1412A>G, XM_006720100.5:c.1412A>G, XM_006720100.4:c.1412A>G, XM_006720100.3:c.1412A>G, XM_006720100.2:c.1412A>G, XM_006720100.1:c.1412A>G, XM_005267492.5:c.1412A>G, XM_005267492.4:c.1412A>G, XM_005267492.3:c.1412A>G, XM_005267492.2:c.1412A>G, XM_005267492.1:c.1412A>G, XM_006720104.5:c.1412A>G, XM_006720104.4:c.1412A>G, XM_006720104.3:c.1412A>G, XM_006720104.2:c.1412A>G, XM_006720104.1:c.1412A>G, XM_011536615.4:c.1412A>G, XM_011536615.3:c.1412A>G, XM_011536615.2:c.1412A>G, XM_011536615.1:c.1412A>G, XM_006720101.4:c.1412A>G, XM_006720101.3:c.1412A>G, XM_006720101.2:c.1412A>G, XM_006720101.1:c.1412A>G, XM_006720098.4:c.1412A>G, XM_006720098.3:c.1412A>G, XM_006720098.2:c.1412A>G, XM_006720098.1:c.1412A>G, XM_006720099.4:c.1412A>G, XM_006720099.3:c.1412A>G, XM_006720099.2:c.1412A>G, XM_006720099.1:c.1412A>G, XM_017021143.3:c.1412A>G, XM_017021143.2:c.1412A>G, XM_017021143.1:c.1412A>G, XM_047431182.1:c.1412A>G, XR_007063998.1:n.1872A>G, NM_015639.1:c.1412A>G, NP_919277.2:p.His471Arg, NP_001317004.1:p.His471Arg, NP_001269973.1:p.His471Arg, NP_001269972.1:p.His471Arg, NP_055805.1:p.His471Arg, NP_001333178.1:p.His471Arg, NP_001333177.1:p.His471Arg, NP_001333174.1:p.His471Arg, NP_001333176.1:p.His471Arg, NP_001333172.1:p.His471Arg, NP_001333175.1:p.His471Arg, XP_006720163.1:p.His471Arg, XP_005267549.1:p.His471Arg, XP_006720167.1:p.His471Arg, XP_011534917.1:p.His471Arg, XP_006720164.1:p.His471Arg, XP_006720161.1:p.His471Arg, XP_006720162.1:p.His471Arg, XP_016876632.1:p.His471Arg, XP_047287138.1:p.His471Arg

                      11.

                      rs1487417291 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:35549189 (GRCh38)
                        14:36018395 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:35549188:G:A
                        Gene:
                        RALGAPA1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000014.9:g.35549189G>A, NC_000014.8:g.36018395G>A, NG_051667.1:g.265135C>T, NM_194301.4:c.6024C>T, NM_194301.3:c.6024C>T, NM_194301.2:c.6024C>T, NM_001330075.3:c.7401C>T, NM_001330075.2:c.7401C>T, NM_001330075.1:c.7401C>T, NM_001283044.3:c.6165C>T, NM_001283044.2:c.6165C>T, NM_001283044.1:c.6165C>T, NM_001283043.3:c.6063C>T, NM_001283043.2:c.6063C>T, NM_001283043.1:c.6063C>T, NM_014990.3:c.6024C>T, NM_014990.2:c.6024C>T, NM_014990.1:c.6024C>T, NM_001346249.2:c.7542C>T, NM_001346249.1:c.7542C>T, NM_001346248.2:c.7401C>T, NM_001346248.1:c.7401C>T, NM_001346245.2:c.6165C>T, NM_001346245.1:c.6165C>T, NM_001346247.2:c.6165C>T, NM_001346247.1:c.6165C>T, NM_001346243.2:c.6024C>T, NM_001346243.1:c.6024C>T, NM_001346246.2:c.6024C>T, NM_001346246.1:c.6024C>T, XM_006720100.5:c.7401C>T, XM_006720100.4:c.7401C>T, XM_006720100.3:c.7401C>T, XM_006720100.2:c.7401C>T, XM_006720100.1:c.7401C>T, XM_005267492.5:c.6165C>T, XM_005267492.4:c.6165C>T, XM_005267492.3:c.6165C>T, XM_005267492.2:c.6165C>T, XM_005267492.1:c.6165C>T, XM_005267498.5:c.3747C>T, XM_005267498.4:c.3747C>T, XM_005267498.3:c.3747C>T, XM_005267498.2:c.3747C>T, XM_005267498.1:c.3747C>T, XM_011536615.4:c.7542C>T, XM_011536615.3:c.7542C>T, XM_011536615.2:c.7542C>T, XM_011536615.1:c.7542C>T, XM_006720101.4:c.7542C>T, XM_006720101.3:c.7542C>T, XM_006720101.2:c.7542C>T, XM_006720101.1:c.7542C>T, XM_006720098.4:c.7542C>T, XM_006720098.3:c.7542C>T, XM_006720098.2:c.7542C>T, XM_006720098.1:c.7542C>T, XM_006720099.4:c.7542C>T, XM_006720099.3:c.7542C>T, XM_006720099.2:c.7542C>T, XM_006720099.1:c.7542C>T, XM_017021146.2:c.5274C>T, XM_017021146.1:c.5274C>T, XM_024449523.2:c.4494C>T, XM_024449523.1:c.4494C>T, XM_047431182.1:c.7401C>T, NM_015639.1:c.6024C>T

                        12.

                        rs1487290497 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:35721773 (GRCh38)
                          14:36190979 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:35721772:T:C
                          Gene:
                          RALGAPA1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000014.9:g.35721773T>C, NC_000014.8:g.36190979T>C, NG_051667.1:g.92551A>G, NM_194301.4:c.2181A>G, NM_194301.3:c.2181A>G, NM_194301.2:c.2181A>G, NM_001330075.3:c.2181A>G, NM_001330075.2:c.2181A>G, NM_001330075.1:c.2181A>G, NM_001283044.3:c.2181A>G, NM_001283044.2:c.2181A>G, NM_001283044.1:c.2181A>G, NM_001283043.3:c.2181A>G, NM_001283043.2:c.2181A>G, NM_001283043.1:c.2181A>G, NM_014990.3:c.2181A>G, NM_014990.2:c.2181A>G, NM_014990.1:c.2181A>G, NM_001346249.2:c.2181A>G, NM_001346249.1:c.2181A>G, NM_001346248.2:c.2181A>G, NM_001346248.1:c.2181A>G, NM_001346245.2:c.2181A>G, NM_001346245.1:c.2181A>G, NM_001346247.2:c.2181A>G, NM_001346247.1:c.2181A>G, NM_001346243.2:c.2181A>G, NM_001346243.1:c.2181A>G, NM_001346246.2:c.2181A>G, NM_001346246.1:c.2181A>G, XM_006720100.5:c.2181A>G, XM_006720100.4:c.2181A>G, XM_006720100.3:c.2181A>G, XM_006720100.2:c.2181A>G, XM_006720100.1:c.2181A>G, XM_005267492.5:c.2181A>G, XM_005267492.4:c.2181A>G, XM_005267492.3:c.2181A>G, XM_005267492.2:c.2181A>G, XM_005267492.1:c.2181A>G, XM_006720104.5:c.2181A>G, XM_006720104.4:c.2181A>G, XM_006720104.3:c.2181A>G, XM_006720104.2:c.2181A>G, XM_006720104.1:c.2181A>G, XM_011536615.4:c.2181A>G, XM_011536615.3:c.2181A>G, XM_011536615.2:c.2181A>G, XM_011536615.1:c.2181A>G, XM_006720101.4:c.2181A>G, XM_006720101.3:c.2181A>G, XM_006720101.2:c.2181A>G, XM_006720101.1:c.2181A>G, XM_006720098.4:c.2181A>G, XM_006720098.3:c.2181A>G, XM_006720098.2:c.2181A>G, XM_006720098.1:c.2181A>G, XM_006720099.4:c.2181A>G, XM_006720099.3:c.2181A>G, XM_006720099.2:c.2181A>G, XM_006720099.1:c.2181A>G, XM_017021143.3:c.2181A>G, XM_017021143.2:c.2181A>G, XM_017021143.1:c.2181A>G, XM_047431182.1:c.2181A>G, XR_007063998.1:n.2641A>G, NM_015639.1:c.2181A>G

                          13.

                          rs1486525252 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            14:35678036 (GRCh38)
                            14:36147242 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:35678035:G:T
                            Gene:
                            RALGAPA1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            HGVS:
                            NC_000014.9:g.35678036G>T, NC_000014.8:g.36147242G>T, NG_051667.1:g.136288C>A, NM_194301.4:c.3020C>A, NM_194301.3:c.3020C>A, NM_194301.2:c.3020C>A, NM_001330075.3:c.4397C>A, NM_001330075.2:c.4397C>A, NM_001330075.1:c.4397C>A, NM_001283044.3:c.3161C>A, NM_001283044.2:c.3161C>A, NM_001283044.1:c.3161C>A, NM_001283043.3:c.3059C>A, NM_001283043.2:c.3059C>A, NM_001283043.1:c.3059C>A, NM_014990.3:c.3020C>A, NM_014990.2:c.3020C>A, NM_014990.1:c.3020C>A, NM_001346249.2:c.4538C>A, NM_001346249.1:c.4538C>A, NM_001346248.2:c.4397C>A, NM_001346248.1:c.4397C>A, NM_001346245.2:c.3161C>A, NM_001346245.1:c.3161C>A, NM_001346247.2:c.3161C>A, NM_001346247.1:c.3161C>A, NM_001346243.2:c.3020C>A, NM_001346243.1:c.3020C>A, NM_001346246.2:c.3020C>A, NM_001346246.1:c.3020C>A, XM_006720100.5:c.4397C>A, XM_006720100.4:c.4397C>A, XM_006720100.3:c.4397C>A, XM_006720100.2:c.4397C>A, XM_006720100.1:c.4397C>A, XM_005267492.5:c.3161C>A, XM_005267492.4:c.3161C>A, XM_005267492.3:c.3161C>A, XM_005267492.2:c.3161C>A, XM_005267492.1:c.3161C>A, XM_005267498.5:c.743C>A, XM_005267498.4:c.743C>A, XM_005267498.3:c.743C>A, XM_005267498.2:c.743C>A, XM_005267498.1:c.743C>A, XM_006720104.5:c.4538C>A, XM_006720104.4:c.4538C>A, XM_006720104.3:c.4538C>A, XM_006720104.2:c.4538C>A, XM_006720104.1:c.4538C>A, XM_011536615.4:c.4538C>A, XM_011536615.3:c.4538C>A, XM_011536615.2:c.4538C>A, XM_011536615.1:c.4538C>A, XM_006720101.4:c.4538C>A, XM_006720101.3:c.4538C>A, XM_006720101.2:c.4538C>A, XM_006720101.1:c.4538C>A, XM_006720098.4:c.4538C>A, XM_006720098.3:c.4538C>A, XM_006720098.2:c.4538C>A, XM_006720098.1:c.4538C>A, XM_006720099.4:c.4538C>A, XM_006720099.3:c.4538C>A, XM_006720099.2:c.4538C>A, XM_006720099.1:c.4538C>A, XM_017021143.3:c.4538C>A, XM_017021143.2:c.4538C>A, XM_017021143.1:c.4538C>A, XM_017021146.2:c.2270C>A, XM_017021146.1:c.2270C>A, XM_024449523.2:c.1490C>A, XM_024449523.1:c.1490C>A, XM_047431182.1:c.4397C>A, XR_007063998.1:n.4998C>A, NM_015639.1:c.3020C>A, NP_919277.2:p.Thr1007Lys, NP_001317004.1:p.Thr1466Lys, NP_001269973.1:p.Thr1054Lys, NP_001269972.1:p.Thr1020Lys, NP_055805.1:p.Thr1007Lys, NP_001333178.1:p.Thr1513Lys, NP_001333177.1:p.Thr1466Lys, NP_001333174.1:p.Thr1054Lys, NP_001333176.1:p.Thr1054Lys, NP_001333172.1:p.Thr1007Lys, NP_001333175.1:p.Thr1007Lys, XP_006720163.1:p.Thr1466Lys, XP_005267549.1:p.Thr1054Lys, XP_005267555.1:p.Thr248Lys, XP_006720167.1:p.Thr1513Lys, XP_011534917.1:p.Thr1513Lys, XP_006720164.1:p.Thr1513Lys, XP_006720161.1:p.Thr1513Lys, XP_006720162.1:p.Thr1513Lys, XP_016876632.1:p.Thr1513Lys, XP_016876635.1:p.Thr757Lys, XP_024305291.1:p.Thr497Lys, XP_047287138.1:p.Thr1466Lys

                            14.

                            rs1486392564 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              14:35689847 (GRCh38)
                              14:36159053 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:35689846:T:C
                              Gene:
                              RALGAPA1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                              HGVS:
                              NC_000014.9:g.35689847T>C, NC_000014.8:g.36159053T>C, NG_051667.1:g.124477A>G, NM_194301.4:c.2423A>G, NM_194301.3:c.2423A>G, NM_194301.2:c.2423A>G, NM_001330075.3:c.2423A>G, NM_001330075.2:c.2423A>G, NM_001330075.1:c.2423A>G, NM_001283044.3:c.2564A>G, NM_001283044.2:c.2564A>G, NM_001283044.1:c.2564A>G, NM_001283043.3:c.2423A>G, NM_001283043.2:c.2423A>G, NM_001283043.1:c.2423A>G, NM_014990.3:c.2423A>G, NM_014990.2:c.2423A>G, NM_014990.1:c.2423A>G, NM_001346249.2:c.2564A>G, NM_001346249.1:c.2564A>G, NM_001346248.2:c.2423A>G, NM_001346248.1:c.2423A>G, NM_001346245.2:c.2564A>G, NM_001346245.1:c.2564A>G, NM_001346247.2:c.2564A>G, NM_001346247.1:c.2564A>G, NM_001346243.2:c.2423A>G, NM_001346243.1:c.2423A>G, NM_001346246.2:c.2423A>G, NM_001346246.1:c.2423A>G, XM_006720100.5:c.2423A>G, XM_006720100.4:c.2423A>G, XM_006720100.3:c.2423A>G, XM_006720100.2:c.2423A>G, XM_006720100.1:c.2423A>G, XM_005267492.5:c.2564A>G, XM_005267492.4:c.2564A>G, XM_005267492.3:c.2564A>G, XM_005267492.2:c.2564A>G, XM_005267492.1:c.2564A>G, XM_005267498.5:c.64A>G, XM_005267498.4:c.64A>G, XM_005267498.3:c.64A>G, XM_005267498.2:c.64A>G, XM_005267498.1:c.64A>G, XM_006720104.5:c.2564A>G, XM_006720104.4:c.2564A>G, XM_006720104.3:c.2564A>G, XM_006720104.2:c.2564A>G, XM_006720104.1:c.2564A>G, XM_011536615.4:c.2564A>G, XM_011536615.3:c.2564A>G, XM_011536615.2:c.2564A>G, XM_011536615.1:c.2564A>G, XM_006720101.4:c.2564A>G, XM_006720101.3:c.2564A>G, XM_006720101.2:c.2564A>G, XM_006720101.1:c.2564A>G, XM_006720098.4:c.2564A>G, XM_006720098.3:c.2564A>G, XM_006720098.2:c.2564A>G, XM_006720098.1:c.2564A>G, XM_006720099.4:c.2564A>G, XM_006720099.3:c.2564A>G, XM_006720099.2:c.2564A>G, XM_006720099.1:c.2564A>G, XM_017021143.3:c.2564A>G, XM_017021143.2:c.2564A>G, XM_017021143.1:c.2564A>G, XM_017021146.2:c.296A>G, XM_017021146.1:c.296A>G, XM_024449523.2:c.-485A>G, XM_024449523.1:c.-485A>G, XM_047431182.1:c.2423A>G, XR_007063998.1:n.3024A>G, NM_015639.1:c.2423A>G, NP_919277.2:p.Glu808Gly, NP_001317004.1:p.Glu808Gly, NP_001269973.1:p.Glu855Gly, NP_001269972.1:p.Glu808Gly, NP_055805.1:p.Glu808Gly, NP_001333178.1:p.Glu855Gly, NP_001333177.1:p.Glu808Gly, NP_001333174.1:p.Glu855Gly, NP_001333176.1:p.Glu855Gly, NP_001333172.1:p.Glu808Gly, NP_001333175.1:p.Glu808Gly, XP_006720163.1:p.Glu808Gly, XP_005267549.1:p.Glu855Gly, XP_005267555.1:p.Asn22Asp, XP_006720167.1:p.Glu855Gly, XP_011534917.1:p.Glu855Gly, XP_006720164.1:p.Glu855Gly, XP_006720161.1:p.Glu855Gly, XP_006720162.1:p.Glu855Gly, XP_016876632.1:p.Glu855Gly, XP_016876635.1:p.Glu99Gly, XP_047287138.1:p.Glu808Gly

                              15.

                              rs1486276621 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                14:35683924 (GRCh38)
                                14:36153130 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:35683923:G:C
                                Gene:
                                RALGAPA1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.35683924G>C, NC_000014.8:g.36153130G>C, NG_051667.1:g.130400C>G, NM_194301.4:c.2838C>G, NM_194301.3:c.2838C>G, NM_194301.2:c.2838C>G, NM_001330075.3:c.4215C>G, NM_001330075.2:c.4215C>G, NM_001330075.1:c.4215C>G, NM_001283044.3:c.2979C>G, NM_001283044.2:c.2979C>G, NM_001283044.1:c.2979C>G, NM_001283043.3:c.2877C>G, NM_001283043.2:c.2877C>G, NM_001283043.1:c.2877C>G, NM_014990.3:c.2838C>G, NM_014990.2:c.2838C>G, NM_014990.1:c.2838C>G, NM_001346249.2:c.4356C>G, NM_001346249.1:c.4356C>G, NM_001346248.2:c.4215C>G, NM_001346248.1:c.4215C>G, NM_001346245.2:c.2979C>G, NM_001346245.1:c.2979C>G, NM_001346247.2:c.2979C>G, NM_001346247.1:c.2979C>G, NM_001346243.2:c.2838C>G, NM_001346243.1:c.2838C>G, NM_001346246.2:c.2838C>G, NM_001346246.1:c.2838C>G, XM_006720100.5:c.4215C>G, XM_006720100.4:c.4215C>G, XM_006720100.3:c.4215C>G, XM_006720100.2:c.4215C>G, XM_006720100.1:c.4215C>G, XM_005267492.5:c.2979C>G, XM_005267492.4:c.2979C>G, XM_005267492.3:c.2979C>G, XM_005267492.2:c.2979C>G, XM_005267492.1:c.2979C>G, XM_005267498.5:c.561C>G, XM_005267498.4:c.561C>G, XM_005267498.3:c.561C>G, XM_005267498.2:c.561C>G, XM_005267498.1:c.561C>G, XM_006720104.5:c.4356C>G, XM_006720104.4:c.4356C>G, XM_006720104.3:c.4356C>G, XM_006720104.2:c.4356C>G, XM_006720104.1:c.4356C>G, XM_011536615.4:c.4356C>G, XM_011536615.3:c.4356C>G, XM_011536615.2:c.4356C>G, XM_011536615.1:c.4356C>G, XM_006720101.4:c.4356C>G, XM_006720101.3:c.4356C>G, XM_006720101.2:c.4356C>G, XM_006720101.1:c.4356C>G, XM_006720098.4:c.4356C>G, XM_006720098.3:c.4356C>G, XM_006720098.2:c.4356C>G, XM_006720098.1:c.4356C>G, XM_006720099.4:c.4356C>G, XM_006720099.3:c.4356C>G, XM_006720099.2:c.4356C>G, XM_006720099.1:c.4356C>G, XM_017021143.3:c.4356C>G, XM_017021143.2:c.4356C>G, XM_017021143.1:c.4356C>G, XM_017021146.2:c.2088C>G, XM_017021146.1:c.2088C>G, XM_024449523.2:c.1308C>G, XM_024449523.1:c.1308C>G, XM_047431182.1:c.4215C>G, XR_007063998.1:n.4816C>G, NM_015639.1:c.2838C>G

                                16.

                                rs1485931376 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:35689243 (GRCh38)
                                  14:36158449 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:35689242:A:G
                                  Gene:
                                  RALGAPA1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000014.9:g.35689243A>G, NC_000014.8:g.36158449A>G, NG_051667.1:g.125081T>C, NM_001330075.3:c.3027T>C, NM_001330075.2:c.3027T>C, NM_001330075.1:c.3027T>C, NM_001346249.2:c.3168T>C, NM_001346249.1:c.3168T>C, NM_001346248.2:c.3027T>C, NM_001346248.1:c.3027T>C, XM_006720100.5:c.3027T>C, XM_006720100.4:c.3027T>C, XM_006720100.3:c.3027T>C, XM_006720100.2:c.3027T>C, XM_006720100.1:c.3027T>C, XM_006720104.5:c.3168T>C, XM_006720104.4:c.3168T>C, XM_006720104.3:c.3168T>C, XM_006720104.2:c.3168T>C, XM_006720104.1:c.3168T>C, XM_011536615.4:c.3168T>C, XM_011536615.3:c.3168T>C, XM_011536615.2:c.3168T>C, XM_011536615.1:c.3168T>C, XM_006720101.4:c.3168T>C, XM_006720101.3:c.3168T>C, XM_006720101.2:c.3168T>C, XM_006720101.1:c.3168T>C, XM_006720098.4:c.3168T>C, XM_006720098.3:c.3168T>C, XM_006720098.2:c.3168T>C, XM_006720098.1:c.3168T>C, XM_006720099.4:c.3168T>C, XM_006720099.3:c.3168T>C, XM_006720099.2:c.3168T>C, XM_006720099.1:c.3168T>C, XM_017021143.3:c.3168T>C, XM_017021143.2:c.3168T>C, XM_017021143.1:c.3168T>C, XM_017021146.2:c.900T>C, XM_017021146.1:c.900T>C, XM_024449523.2:c.120T>C, XM_024449523.1:c.120T>C, XM_047431182.1:c.3027T>C, XR_007063998.1:n.3628T>C

                                  17.

                                  rs1485674764 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:35689786 (GRCh38)
                                    14:36158992 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:35689785:C:T
                                    Gene:
                                    RALGAPA1 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000014.9:g.35689786C>T, NC_000014.8:g.36158992C>T, NG_051667.1:g.124538G>A, NM_001330075.3:c.2484G>A, NM_001330075.2:c.2484G>A, NM_001330075.1:c.2484G>A, NM_001346249.2:c.2625G>A, NM_001346249.1:c.2625G>A, NM_001346248.2:c.2484G>A, NM_001346248.1:c.2484G>A, XM_006720100.5:c.2484G>A, XM_006720100.4:c.2484G>A, XM_006720100.3:c.2484G>A, XM_006720100.2:c.2484G>A, XM_006720100.1:c.2484G>A, XM_006720104.5:c.2625G>A, XM_006720104.4:c.2625G>A, XM_006720104.3:c.2625G>A, XM_006720104.2:c.2625G>A, XM_006720104.1:c.2625G>A, XM_011536615.4:c.2625G>A, XM_011536615.3:c.2625G>A, XM_011536615.2:c.2625G>A, XM_011536615.1:c.2625G>A, XM_006720101.4:c.2625G>A, XM_006720101.3:c.2625G>A, XM_006720101.2:c.2625G>A, XM_006720101.1:c.2625G>A, XM_006720098.4:c.2625G>A, XM_006720098.3:c.2625G>A, XM_006720098.2:c.2625G>A, XM_006720098.1:c.2625G>A, XM_006720099.4:c.2625G>A, XM_006720099.3:c.2625G>A, XM_006720099.2:c.2625G>A, XM_006720099.1:c.2625G>A, XM_017021143.3:c.2625G>A, XM_017021143.2:c.2625G>A, XM_017021143.1:c.2625G>A, XM_017021146.2:c.357G>A, XM_017021146.1:c.357G>A, XM_024449523.2:c.-424G>A, XM_024449523.1:c.-424G>A, XM_047431182.1:c.2484G>A, XR_007063998.1:n.3085G>A

                                    18.

                                    rs1485496948 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      14:35728390 (GRCh38)
                                      14:36197596 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:35728389:C:A,NC_000014.9:35728389:C:T
                                      Gene:
                                      RALGAPA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000014.9:g.35728390C>A, NC_000014.9:g.35728390C>T, NC_000014.8:g.36197596C>A, NC_000014.8:g.36197596C>T, NG_051667.1:g.85934G>T, NG_051667.1:g.85934G>A, NM_194301.4:c.1708G>T, NM_194301.4:c.1708G>A, NM_194301.3:c.1708G>T, NM_194301.3:c.1708G>A, NM_194301.2:c.1708G>T, NM_194301.2:c.1708G>A, NM_001330075.3:c.1708G>T, NM_001330075.3:c.1708G>A, NM_001330075.2:c.1708G>T, NM_001330075.2:c.1708G>A, NM_001330075.1:c.1708G>T, NM_001330075.1:c.1708G>A, NM_001283044.3:c.1708G>T, NM_001283044.3:c.1708G>A, NM_001283044.2:c.1708G>T, NM_001283044.2:c.1708G>A, NM_001283044.1:c.1708G>T, NM_001283044.1:c.1708G>A, NM_001283043.3:c.1708G>T, NM_001283043.3:c.1708G>A, NM_001283043.2:c.1708G>T, NM_001283043.2:c.1708G>A, NM_001283043.1:c.1708G>T, NM_001283043.1:c.1708G>A, NM_014990.3:c.1708G>T, NM_014990.3:c.1708G>A, NM_014990.2:c.1708G>T, NM_014990.2:c.1708G>A, NM_014990.1:c.1708G>T, NM_014990.1:c.1708G>A, NM_001346249.2:c.1708G>T, NM_001346249.2:c.1708G>A, NM_001346249.1:c.1708G>T, NM_001346249.1:c.1708G>A, NM_001346248.2:c.1708G>T, NM_001346248.2:c.1708G>A, NM_001346248.1:c.1708G>T, NM_001346248.1:c.1708G>A, NM_001346245.2:c.1708G>T, NM_001346245.2:c.1708G>A, NM_001346245.1:c.1708G>T, NM_001346245.1:c.1708G>A, NM_001346247.2:c.1708G>T, NM_001346247.2:c.1708G>A, NM_001346247.1:c.1708G>T, NM_001346247.1:c.1708G>A, NM_001346243.2:c.1708G>T, NM_001346243.2:c.1708G>A, NM_001346243.1:c.1708G>T, NM_001346243.1:c.1708G>A, NM_001346246.2:c.1708G>T, NM_001346246.2:c.1708G>A, NM_001346246.1:c.1708G>T, NM_001346246.1:c.1708G>A, XM_006720100.5:c.1708G>T, XM_006720100.5:c.1708G>A, XM_006720100.4:c.1708G>T, XM_006720100.4:c.1708G>A, XM_006720100.3:c.1708G>T, XM_006720100.3:c.1708G>A, XM_006720100.2:c.1708G>T, XM_006720100.2:c.1708G>A, XM_006720100.1:c.1708G>T, XM_006720100.1:c.1708G>A, XM_005267492.5:c.1708G>T, XM_005267492.5:c.1708G>A, XM_005267492.4:c.1708G>T, XM_005267492.4:c.1708G>A, XM_005267492.3:c.1708G>T, XM_005267492.3:c.1708G>A, XM_005267492.2:c.1708G>T, XM_005267492.2:c.1708G>A, XM_005267492.1:c.1708G>T, XM_005267492.1:c.1708G>A, XM_006720104.5:c.1708G>T, XM_006720104.5:c.1708G>A, XM_006720104.4:c.1708G>T, XM_006720104.4:c.1708G>A, XM_006720104.3:c.1708G>T, XM_006720104.3:c.1708G>A, XM_006720104.2:c.1708G>T, XM_006720104.2:c.1708G>A, XM_006720104.1:c.1708G>T, XM_006720104.1:c.1708G>A, XM_011536615.4:c.1708G>T, XM_011536615.4:c.1708G>A, XM_011536615.3:c.1708G>T, XM_011536615.3:c.1708G>A, XM_011536615.2:c.1708G>T, XM_011536615.2:c.1708G>A, XM_011536615.1:c.1708G>T, XM_011536615.1:c.1708G>A, XM_006720101.4:c.1708G>T, XM_006720101.4:c.1708G>A, XM_006720101.3:c.1708G>T, XM_006720101.3:c.1708G>A, XM_006720101.2:c.1708G>T, XM_006720101.2:c.1708G>A, XM_006720101.1:c.1708G>T, XM_006720101.1:c.1708G>A, XM_006720098.4:c.1708G>T, XM_006720098.4:c.1708G>A, XM_006720098.3:c.1708G>T, XM_006720098.3:c.1708G>A, XM_006720098.2:c.1708G>T, XM_006720098.2:c.1708G>A, XM_006720098.1:c.1708G>T, XM_006720098.1:c.1708G>A, XM_006720099.4:c.1708G>T, XM_006720099.4:c.1708G>A, XM_006720099.3:c.1708G>T, XM_006720099.3:c.1708G>A, XM_006720099.2:c.1708G>T, XM_006720099.2:c.1708G>A, XM_006720099.1:c.1708G>T, XM_006720099.1:c.1708G>A, XM_017021143.3:c.1708G>T, XM_017021143.3:c.1708G>A, XM_017021143.2:c.1708G>T, XM_017021143.2:c.1708G>A, XM_017021143.1:c.1708G>T, XM_017021143.1:c.1708G>A, XM_047431182.1:c.1708G>T, XM_047431182.1:c.1708G>A, XR_007063998.1:n.2168G>T, XR_007063998.1:n.2168G>A, NM_015639.1:c.1708G>T, NM_015639.1:c.1708G>A, NP_919277.2:p.Val570Leu, NP_919277.2:p.Val570Ile, NP_001317004.1:p.Val570Leu, NP_001317004.1:p.Val570Ile, NP_001269973.1:p.Val570Leu, NP_001269973.1:p.Val570Ile, NP_001269972.1:p.Val570Leu, NP_001269972.1:p.Val570Ile, NP_055805.1:p.Val570Leu, NP_055805.1:p.Val570Ile, NP_001333178.1:p.Val570Leu, NP_001333178.1:p.Val570Ile, NP_001333177.1:p.Val570Leu, NP_001333177.1:p.Val570Ile, NP_001333174.1:p.Val570Leu, NP_001333174.1:p.Val570Ile, NP_001333176.1:p.Val570Leu, NP_001333176.1:p.Val570Ile, NP_001333172.1:p.Val570Leu, NP_001333172.1:p.Val570Ile, NP_001333175.1:p.Val570Leu, NP_001333175.1:p.Val570Ile, XP_006720163.1:p.Val570Leu, XP_006720163.1:p.Val570Ile, XP_005267549.1:p.Val570Leu, XP_005267549.1:p.Val570Ile, XP_006720167.1:p.Val570Leu, XP_006720167.1:p.Val570Ile, XP_011534917.1:p.Val570Leu, XP_011534917.1:p.Val570Ile, XP_006720164.1:p.Val570Leu, XP_006720164.1:p.Val570Ile, XP_006720161.1:p.Val570Leu, XP_006720161.1:p.Val570Ile, XP_006720162.1:p.Val570Leu, XP_006720162.1:p.Val570Ile, XP_016876632.1:p.Val570Leu, XP_016876632.1:p.Val570Ile, XP_047287138.1:p.Val570Leu, XP_047287138.1:p.Val570Ile

                                      19.

                                      rs1483933924 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        14:35654438 (GRCh38)
                                        14:36123644 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:35654437:G:A
                                        Gene:
                                        RALGAPA1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.35654438G>A, NC_000014.8:g.36123644G>A, NG_051667.1:g.159886C>T, NM_194301.4:c.4018C>T, NM_194301.3:c.4018C>T, NM_194301.2:c.4018C>T, NM_001330075.3:c.5395C>T, NM_001330075.2:c.5395C>T, NM_001330075.1:c.5395C>T, NM_001283044.3:c.4159C>T, NM_001283044.2:c.4159C>T, NM_001283044.1:c.4159C>T, NM_001283043.3:c.4057C>T, NM_001283043.2:c.4057C>T, NM_001283043.1:c.4057C>T, NM_014990.3:c.4018C>T, NM_014990.2:c.4018C>T, NM_014990.1:c.4018C>T, NM_001346249.2:c.5536C>T, NM_001346249.1:c.5536C>T, NM_001346248.2:c.5395C>T, NM_001346248.1:c.5395C>T, NM_001346245.2:c.4159C>T, NM_001346245.1:c.4159C>T, NM_001346247.2:c.4159C>T, NM_001346247.1:c.4159C>T, NM_001346243.2:c.4018C>T, NM_001346243.1:c.4018C>T, NM_001346246.2:c.4018C>T, NM_001346246.1:c.4018C>T, XM_006720100.5:c.5395C>T, XM_006720100.4:c.5395C>T, XM_006720100.3:c.5395C>T, XM_006720100.2:c.5395C>T, XM_006720100.1:c.5395C>T, XM_005267492.5:c.4159C>T, XM_005267492.4:c.4159C>T, XM_005267492.3:c.4159C>T, XM_005267492.2:c.4159C>T, XM_005267492.1:c.4159C>T, XM_005267498.5:c.1741C>T, XM_005267498.4:c.1741C>T, XM_005267498.3:c.1741C>T, XM_005267498.2:c.1741C>T, XM_005267498.1:c.1741C>T, XM_011536615.4:c.5536C>T, XM_011536615.3:c.5536C>T, XM_011536615.2:c.5536C>T, XM_011536615.1:c.5536C>T, XM_006720101.4:c.5536C>T, XM_006720101.3:c.5536C>T, XM_006720101.2:c.5536C>T, XM_006720101.1:c.5536C>T, XM_006720098.4:c.5536C>T, XM_006720098.3:c.5536C>T, XM_006720098.2:c.5536C>T, XM_006720098.1:c.5536C>T, XM_006720099.4:c.5536C>T, XM_006720099.3:c.5536C>T, XM_006720099.2:c.5536C>T, XM_006720099.1:c.5536C>T, XM_017021143.3:c.5536C>T, XM_017021143.2:c.5536C>T, XM_017021143.1:c.5536C>T, XM_017021146.2:c.3268C>T, XM_017021146.1:c.3268C>T, XM_024449523.2:c.2488C>T, XM_024449523.1:c.2488C>T, XM_047431182.1:c.5395C>T, NM_015639.1:c.4018C>T, NP_919277.2:p.Leu1340Phe, NP_001317004.1:p.Leu1799Phe, NP_001269973.1:p.Leu1387Phe, NP_001269972.1:p.Leu1353Phe, NP_055805.1:p.Leu1340Phe, NP_001333178.1:p.Leu1846Phe, NP_001333177.1:p.Leu1799Phe, NP_001333174.1:p.Leu1387Phe, NP_001333176.1:p.Leu1387Phe, NP_001333172.1:p.Leu1340Phe, NP_001333175.1:p.Leu1340Phe, XP_006720163.1:p.Leu1799Phe, XP_005267549.1:p.Leu1387Phe, XP_005267555.1:p.Leu581Phe, XP_011534917.1:p.Leu1846Phe, XP_006720164.1:p.Leu1846Phe, XP_006720161.1:p.Leu1846Phe, XP_006720162.1:p.Leu1846Phe, XP_016876632.1:p.Leu1846Phe, XP_016876635.1:p.Leu1090Phe, XP_024305291.1:p.Leu830Phe, XP_047287138.1:p.Leu1799Phe

                                        20.

                                        rs1482988246 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          14:35627410 (GRCh38)
                                          14:36096616 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:35627409:T:G
                                          Gene:
                                          RALGAPA1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000224/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000014.9:g.35627410T>G, NC_000014.8:g.36096616T>G, NG_051667.1:g.186914A>C, NM_194301.4:c.5019A>C, NM_194301.3:c.5019A>C, NM_194301.2:c.5019A>C, NM_001330075.3:c.6396A>C, NM_001330075.2:c.6396A>C, NM_001330075.1:c.6396A>C, NM_001283044.3:c.5160A>C, NM_001283044.2:c.5160A>C, NM_001283044.1:c.5160A>C, NM_001283043.3:c.5058A>C, NM_001283043.2:c.5058A>C, NM_001283043.1:c.5058A>C, NM_014990.3:c.5019A>C, NM_014990.2:c.5019A>C, NM_014990.1:c.5019A>C, NM_001346249.2:c.6537A>C, NM_001346249.1:c.6537A>C, NM_001346248.2:c.6396A>C, NM_001346248.1:c.6396A>C, NM_001346245.2:c.5160A>C, NM_001346245.1:c.5160A>C, NM_001346247.2:c.5160A>C, NM_001346247.1:c.5160A>C, NM_001346243.2:c.5019A>C, NM_001346243.1:c.5019A>C, NM_001346246.2:c.5019A>C, NM_001346246.1:c.5019A>C, XM_006720100.5:c.6396A>C, XM_006720100.4:c.6396A>C, XM_006720100.3:c.6396A>C, XM_006720100.2:c.6396A>C, XM_006720100.1:c.6396A>C, XM_005267492.5:c.5160A>C, XM_005267492.4:c.5160A>C, XM_005267492.3:c.5160A>C, XM_005267492.2:c.5160A>C, XM_005267492.1:c.5160A>C, XM_005267498.5:c.2742A>C, XM_005267498.4:c.2742A>C, XM_005267498.3:c.2742A>C, XM_005267498.2:c.2742A>C, XM_005267498.1:c.2742A>C, XM_011536615.4:c.6537A>C, XM_011536615.3:c.6537A>C, XM_011536615.2:c.6537A>C, XM_011536615.1:c.6537A>C, XM_006720101.4:c.6537A>C, XM_006720101.3:c.6537A>C, XM_006720101.2:c.6537A>C, XM_006720101.1:c.6537A>C, XM_006720098.4:c.6537A>C, XM_006720098.3:c.6537A>C, XM_006720098.2:c.6537A>C, XM_006720098.1:c.6537A>C, XM_006720099.4:c.6537A>C, XM_006720099.3:c.6537A>C, XM_006720099.2:c.6537A>C, XM_006720099.1:c.6537A>C, XM_017021143.3:c.6537A>C, XM_017021143.2:c.6537A>C, XM_017021143.1:c.6537A>C, XM_017021146.2:c.4269A>C, XM_017021146.1:c.4269A>C, XM_024449523.2:c.3489A>C, XM_024449523.1:c.3489A>C, XM_047431182.1:c.6396A>C, NM_015639.1:c.5019A>C

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