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Items: 1 to 20 of 370

1.

rs1488651212 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:127069328 (GRCh38)
    9:129831607 (GRCh37)
    Canonical SPDI:
    NC_000009.12:127069327:G:A
    Gene:
    RALGPS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000009.12:g.127069328G>A, NC_000009.11:g.129831607G>A, NM_014636.3:c.582G>A, NM_014636.2:c.582G>A, XM_011519233.2:c.582G>A, XM_011519233.1:c.582G>A, NM_001322321.2:c.582G>A, NM_001322321.1:c.582G>A, NM_001322322.2:c.582G>A, NM_001322322.1:c.582G>A, NM_001322324.2:c.582G>A, NM_001322324.1:c.582G>A, NM_001322325.2:c.582G>A, NM_001322325.1:c.582G>A, NM_001190729.2:c.582G>A, NM_001190729.1:c.582G>A, NM_001322320.2:c.582G>A, NM_001322320.1:c.582G>A, NM_001322323.2:c.492G>A, NM_001322323.1:c.492G>A, NM_001190730.2:c.582G>A, NM_001190730.1:c.582G>A, XM_047424118.1:c.582G>A, XM_047424123.1:c.582G>A, XM_047424125.1:c.492G>A, XM_047424134.1:c.582G>A, XM_047424120.1:c.582G>A, XM_047424124.1:c.531G>A, XM_047424127.1:c.492G>A, XM_047424128.1:c.492G>A, XM_047424129.1:c.492G>A, XM_047424130.1:c.441G>A, XM_047424135.1:c.399G>A, XM_047424119.1:c.582G>A, XM_047424138.1:c.582G>A, XM_047424121.1:c.582G>A, XM_047424139.1:c.582G>A, NM_001366400.1:c.582G>A, XM_047424144.1:c.531G>A, XM_047424146.1:c.492G>A, XM_047424148.1:c.492G>A, XM_047424150.1:c.492G>A, XM_017015346.1:c.582G>A, XM_047424152.1:c.399G>A, XM_047424137.1:c.582G>A, XM_047424140.1:c.348G>A, NM_001366401.1:c.582G>A, XM_047424153.1:c.348G>A, XM_047424147.1:c.492G>A, XM_047424149.1:c.399G>A, XM_047424114.1:c.582G>A, XM_047424116.1:c.582G>A, XM_047424117.1:c.531G>A, XM_047424122.1:c.492G>A, XM_047424126.1:c.441G>A, XM_047424113.1:c.582G>A, XM_047424115.1:c.582G>A, XM_047424131.1:c.582G>A, XM_047424132.1:c.582G>A, XM_047424136.1:c.531G>A, XM_047424142.1:c.492G>A, XM_047424143.1:c.492G>A, XM_047424145.1:c.441G>A, XM_047424151.1:c.399G>A, XM_047424133.1:c.582G>A, XM_047424141.1:c.492G>A, NM_001190728.1:c.582G>A

    2.

    rs1488108962 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      9:126962333 (GRCh38)
      9:129724612 (GRCh37)
      Canonical SPDI:
      NC_000009.12:126962332:C:A
      Gene:
      RALGPS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.126962333C>A, NC_000009.11:g.129724612C>A, NM_014636.3:c.44C>A, NM_014636.2:c.44C>A, XM_011519233.2:c.44C>A, XM_011519233.1:c.44C>A, NM_001322321.2:c.44C>A, NM_001322321.1:c.44C>A, NM_001322322.2:c.44C>A, NM_001322322.1:c.44C>A, NM_001322324.2:c.44C>A, NM_001322324.1:c.44C>A, NM_001322325.2:c.44C>A, NM_001322325.1:c.44C>A, NM_001190729.2:c.44C>A, NM_001190729.1:c.44C>A, NM_001322320.2:c.44C>A, NM_001322320.1:c.44C>A, NM_001322323.2:c.44C>A, NM_001322323.1:c.44C>A, NM_001190730.2:c.44C>A, NM_001190730.1:c.44C>A, XM_047424118.1:c.44C>A, XM_047424123.1:c.44C>A, XM_047424125.1:c.44C>A, XM_047424134.1:c.44C>A, XM_047424120.1:c.44C>A, XM_047424124.1:c.44C>A, XM_047424127.1:c.44C>A, XM_047424128.1:c.44C>A, XM_047424129.1:c.44C>A, XM_047424130.1:c.44C>A, XM_047424135.1:c.44C>A, XM_047424119.1:c.44C>A, XM_047424138.1:c.44C>A, XM_047424121.1:c.44C>A, XM_047424139.1:c.44C>A, NM_001366400.1:c.44C>A, XM_047424144.1:c.44C>A, XM_047424146.1:c.44C>A, XM_047424148.1:c.44C>A, XM_047424150.1:c.44C>A, XM_017015346.1:c.44C>A, XM_047424152.1:c.44C>A, XM_047424137.1:c.44C>A, XM_047424140.1:c.44C>A, NM_001366401.1:c.44C>A, XM_047424153.1:c.44C>A, XM_047424147.1:c.44C>A, XM_047424149.1:c.44C>A, XM_047424114.1:c.44C>A, XM_047424116.1:c.44C>A, XM_047424117.1:c.44C>A, XM_047424122.1:c.44C>A, XM_047424126.1:c.44C>A, XM_047424113.1:c.44C>A, XM_047424115.1:c.44C>A, XM_047424131.1:c.44C>A, XM_047424132.1:c.44C>A, XM_047424136.1:c.44C>A, XM_047424142.1:c.44C>A, XM_047424143.1:c.44C>A, XM_047424145.1:c.44C>A, XM_047424151.1:c.44C>A, XM_047424133.1:c.44C>A, XM_047424141.1:c.44C>A, NM_001190728.1:c.44C>A, NM_001366399.1:c.44C>A, NP_055451.1:p.Ser15Tyr, XP_011517535.1:p.Ser15Tyr, NP_001309250.1:p.Ser15Tyr, NP_001309251.1:p.Ser15Tyr, NP_001309253.1:p.Ser15Tyr, NP_001309254.1:p.Ser15Tyr, NP_001177658.1:p.Ser15Tyr, NP_001309249.1:p.Ser15Tyr, NP_001309252.1:p.Ser15Tyr, NP_001177659.1:p.Ser15Tyr, XP_047280074.1:p.Ser15Tyr, XP_047280079.1:p.Ser15Tyr, XP_047280081.1:p.Ser15Tyr, XP_047280090.1:p.Ser15Tyr, XP_047280076.1:p.Ser15Tyr, XP_047280080.1:p.Ser15Tyr, XP_047280083.1:p.Ser15Tyr, XP_047280084.1:p.Ser15Tyr, XP_047280085.1:p.Ser15Tyr, XP_047280086.1:p.Ser15Tyr, XP_047280091.1:p.Ser15Tyr, XP_047280075.1:p.Ser15Tyr, XP_047280094.1:p.Ser15Tyr, XP_047280077.1:p.Ser15Tyr, XP_047280095.1:p.Ser15Tyr, NP_001353329.1:p.Ser15Tyr, XP_047280100.1:p.Ser15Tyr, XP_047280102.1:p.Ser15Tyr, XP_047280104.1:p.Ser15Tyr, XP_047280106.1:p.Ser15Tyr, XP_016870835.1:p.Ser15Tyr, XP_047280108.1:p.Ser15Tyr, XP_047280093.1:p.Ser15Tyr, XP_047280096.1:p.Ser15Tyr, NP_001353330.1:p.Ser15Tyr, XP_047280109.1:p.Ser15Tyr, XP_047280103.1:p.Ser15Tyr, XP_047280105.1:p.Ser15Tyr, XP_047280070.1:p.Ser15Tyr, XP_047280072.1:p.Ser15Tyr, XP_047280073.1:p.Ser15Tyr, XP_047280078.1:p.Ser15Tyr, XP_047280082.1:p.Ser15Tyr, XP_047280069.1:p.Ser15Tyr, XP_047280071.1:p.Ser15Tyr, XP_047280087.1:p.Ser15Tyr, XP_047280088.1:p.Ser15Tyr, XP_047280092.1:p.Ser15Tyr, XP_047280098.1:p.Ser15Tyr, XP_047280099.1:p.Ser15Tyr, XP_047280101.1:p.Ser15Tyr, XP_047280107.1:p.Ser15Tyr, XP_047280089.1:p.Ser15Tyr, XP_047280097.1:p.Ser15Tyr, NP_001177657.1:p.Ser15Tyr, NP_001353328.1:p.Ser15Tyr

      3.

      rs1487609484 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        9:127210766 (GRCh38)
        9:129973045 (GRCh37)
        Canonical SPDI:
        NC_000009.12:127210765:G:C
        Gene:
        RALGPS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD_exomes)
        C=0.000014/2 (GnomAD)
        C=0.000015/4 (TOPMED)
        HGVS:
        NC_000009.12:g.127210766G>C, NC_000009.11:g.129973045G>C, XM_011519233.2:c.1319G>C, XM_011519233.1:c.1319G>C, NM_001322321.2:c.1316G>C, NM_001322321.1:c.1316G>C, NM_001322322.2:c.1316G>C, NM_001322322.1:c.1316G>C, NM_001322324.2:c.1106G>C, NM_001322324.1:c.1106G>C, NM_001322325.2:c.1319G>C, NM_001322325.1:c.1319G>C, NM_001190729.2:c.1109G>C, NM_001190729.1:c.1109G>C, NM_001322320.2:c.1109G>C, NM_001322320.1:c.1109G>C, NM_001322323.2:c.1019G>C, NM_001322323.1:c.1019G>C, XM_047424118.1:c.1316G>C, XM_047424125.1:c.1229G>C, XM_047424134.1:c.1109G>C, XM_047424120.1:c.1319G>C, XM_047424124.1:c.1268G>C, XM_047424127.1:c.1229G>C, XM_047424128.1:c.1226G>C, XM_047424129.1:c.1229G>C, XM_047424130.1:c.1175G>C, XM_047424135.1:c.1136G>C, XM_047424119.1:c.1319G>C, XM_047424138.1:c.1109G>C, XM_047424121.1:c.1319G>C, XM_047424139.1:c.1109G>C, XM_047424144.1:c.1058G>C, XM_047424146.1:c.1019G>C, XM_047424148.1:c.1016G>C, XM_047424150.1:c.1019G>C, XM_047424152.1:c.926G>C, XM_047424137.1:c.1109G>C, XM_047424140.1:c.1085G>C, NM_001366401.1:c.1109G>C, XM_047424153.1:c.875G>C, XM_047424147.1:c.1019G>C, XM_047424149.1:c.926G>C, XM_047424114.1:c.1316G>C, XM_047424116.1:c.1319G>C, XM_047424117.1:c.1268G>C, XM_047424122.1:c.1229G>C, XM_047424126.1:c.1178G>C, XM_047424113.1:c.1319G>C, XM_047424115.1:c.1316G>C, XM_047424131.1:c.1106G>C, XM_047424132.1:c.1109G>C, XM_047424136.1:c.1058G>C, XM_047424142.1:c.1016G>C, XM_047424143.1:c.1019G>C, XM_047424145.1:c.968G>C, XM_047424151.1:c.926G>C, XM_047424133.1:c.1109G>C, XM_047424141.1:c.1016G>C, NM_001190728.1:c.1109G>C, XP_011517535.1:p.Ser440Thr, NP_001309250.1:p.Ser439Thr, NP_001309251.1:p.Ser439Thr, NP_001309253.1:p.Ser369Thr, NP_001309254.1:p.Ser440Thr, NP_001177658.1:p.Ser370Thr, NP_001309249.1:p.Ser370Thr, NP_001309252.1:p.Ser340Thr, XP_047280074.1:p.Ser439Thr, XP_047280081.1:p.Ser410Thr, XP_047280090.1:p.Ser370Thr, XP_047280076.1:p.Ser440Thr, XP_047280080.1:p.Ser423Thr, XP_047280083.1:p.Ser410Thr, XP_047280084.1:p.Ser409Thr, XP_047280085.1:p.Ser410Thr, XP_047280086.1:p.Ser392Thr, XP_047280091.1:p.Ser379Thr, XP_047280075.1:p.Ser440Thr, XP_047280094.1:p.Ser370Thr, XP_047280077.1:p.Ser440Thr, XP_047280095.1:p.Ser370Thr, XP_047280100.1:p.Ser353Thr, XP_047280102.1:p.Ser340Thr, XP_047280104.1:p.Ser339Thr, XP_047280106.1:p.Ser340Thr, XP_047280108.1:p.Ser309Thr, XP_047280093.1:p.Ser370Thr, XP_047280096.1:p.Ser362Thr, NP_001353330.1:p.Ser370Thr, XP_047280109.1:p.Ser292Thr, XP_047280103.1:p.Ser340Thr, XP_047280105.1:p.Ser309Thr, XP_047280070.1:p.Ser439Thr, XP_047280072.1:p.Ser440Thr, XP_047280073.1:p.Ser423Thr, XP_047280078.1:p.Ser410Thr, XP_047280082.1:p.Ser393Thr, XP_047280069.1:p.Ser440Thr, XP_047280071.1:p.Ser439Thr, XP_047280087.1:p.Ser369Thr, XP_047280088.1:p.Ser370Thr, XP_047280092.1:p.Ser353Thr, XP_047280098.1:p.Ser339Thr, XP_047280099.1:p.Ser340Thr, XP_047280101.1:p.Ser323Thr, XP_047280107.1:p.Ser309Thr, XP_047280089.1:p.Ser370Thr, XP_047280097.1:p.Ser339Thr, NP_001177657.1:p.Ser370Thr

        4.

        rs1480796232 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:127034480 (GRCh38)
          9:129796759 (GRCh37)
          Canonical SPDI:
          NC_000009.12:127034479:C:T
          Gene:
          RALGPS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.127034480C>T, NC_000009.11:g.129796759C>T, NM_014636.3:c.266C>T, NM_014636.2:c.266C>T, XM_011519233.2:c.266C>T, XM_011519233.1:c.266C>T, NM_001322321.2:c.266C>T, NM_001322321.1:c.266C>T, NM_001322322.2:c.266C>T, NM_001322322.1:c.266C>T, NM_001322324.2:c.266C>T, NM_001322324.1:c.266C>T, NM_001322325.2:c.266C>T, NM_001322325.1:c.266C>T, NM_001190729.2:c.266C>T, NM_001190729.1:c.266C>T, NM_001322320.2:c.266C>T, NM_001322320.1:c.266C>T, NM_001322323.2:c.266C>T, NM_001322323.1:c.266C>T, NM_001190730.2:c.266C>T, NM_001190730.1:c.266C>T, XM_047424118.1:c.266C>T, XM_047424123.1:c.266C>T, XM_047424125.1:c.266C>T, XM_047424134.1:c.266C>T, XM_047424120.1:c.266C>T, XM_047424124.1:c.215C>T, XM_047424127.1:c.266C>T, XM_047424128.1:c.266C>T, XM_047424129.1:c.266C>T, XM_047424130.1:c.215C>T, XM_047424135.1:c.266C>T, XM_047424119.1:c.266C>T, XM_047424138.1:c.266C>T, XM_047424121.1:c.266C>T, XM_047424139.1:c.266C>T, NM_001366400.1:c.266C>T, XM_047424144.1:c.215C>T, XM_047424146.1:c.266C>T, XM_047424148.1:c.266C>T, XM_047424150.1:c.266C>T, XM_017015346.1:c.266C>T, XM_047424152.1:c.266C>T, XM_047424137.1:c.266C>T, XM_047424140.1:c.215C>T, NM_001366401.1:c.266C>T, XM_047424153.1:c.215C>T, XM_047424147.1:c.266C>T, XM_047424149.1:c.266C>T, XM_047424114.1:c.266C>T, XM_047424116.1:c.266C>T, XM_047424117.1:c.215C>T, XM_047424122.1:c.266C>T, XM_047424126.1:c.215C>T, XM_047424113.1:c.266C>T, XM_047424115.1:c.266C>T, XM_047424131.1:c.266C>T, XM_047424132.1:c.266C>T, XM_047424136.1:c.215C>T, XM_047424142.1:c.266C>T, XM_047424143.1:c.266C>T, XM_047424145.1:c.215C>T, XM_047424151.1:c.266C>T, XM_047424133.1:c.266C>T, XM_047424141.1:c.266C>T, NM_001190728.1:c.266C>T, NP_055451.1:p.Pro89Leu, XP_011517535.1:p.Pro89Leu, NP_001309250.1:p.Pro89Leu, NP_001309251.1:p.Pro89Leu, NP_001309253.1:p.Pro89Leu, NP_001309254.1:p.Pro89Leu, NP_001177658.1:p.Pro89Leu, NP_001309249.1:p.Pro89Leu, NP_001309252.1:p.Pro89Leu, NP_001177659.1:p.Pro89Leu, XP_047280074.1:p.Pro89Leu, XP_047280079.1:p.Pro89Leu, XP_047280081.1:p.Pro89Leu, XP_047280090.1:p.Pro89Leu, XP_047280076.1:p.Pro89Leu, XP_047280080.1:p.Pro72Leu, XP_047280083.1:p.Pro89Leu, XP_047280084.1:p.Pro89Leu, XP_047280085.1:p.Pro89Leu, XP_047280086.1:p.Pro72Leu, XP_047280091.1:p.Pro89Leu, XP_047280075.1:p.Pro89Leu, XP_047280094.1:p.Pro89Leu, XP_047280077.1:p.Pro89Leu, XP_047280095.1:p.Pro89Leu, NP_001353329.1:p.Pro89Leu, XP_047280100.1:p.Pro72Leu, XP_047280102.1:p.Pro89Leu, XP_047280104.1:p.Pro89Leu, XP_047280106.1:p.Pro89Leu, XP_016870835.1:p.Pro89Leu, XP_047280108.1:p.Pro89Leu, XP_047280093.1:p.Pro89Leu, XP_047280096.1:p.Pro72Leu, NP_001353330.1:p.Pro89Leu, XP_047280109.1:p.Pro72Leu, XP_047280103.1:p.Pro89Leu, XP_047280105.1:p.Pro89Leu, XP_047280070.1:p.Pro89Leu, XP_047280072.1:p.Pro89Leu, XP_047280073.1:p.Pro72Leu, XP_047280078.1:p.Pro89Leu, XP_047280082.1:p.Pro72Leu, XP_047280069.1:p.Pro89Leu, XP_047280071.1:p.Pro89Leu, XP_047280087.1:p.Pro89Leu, XP_047280088.1:p.Pro89Leu, XP_047280092.1:p.Pro72Leu, XP_047280098.1:p.Pro89Leu, XP_047280099.1:p.Pro89Leu, XP_047280101.1:p.Pro72Leu, XP_047280107.1:p.Pro89Leu, XP_047280089.1:p.Pro89Leu, XP_047280097.1:p.Pro89Leu, NP_001177657.1:p.Pro89Leu

          5.

          rs1479877223 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            9:127195137 (GRCh38)
            9:129957416 (GRCh37)
            Canonical SPDI:
            NC_000009.12:127195136:C:G
            Gene:
            RALGPS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            NC_000009.12:g.127195137C>G, NC_000009.11:g.129957416C>G, NM_014636.3:c.957C>G, NM_014636.2:c.957C>G, XM_011519233.2:c.957C>G, XM_011519233.1:c.957C>G, NM_001322321.2:c.957C>G, NM_001322321.1:c.957C>G, NM_001322322.2:c.957C>G, NM_001322322.1:c.957C>G, NM_001322324.2:c.957C>G, NM_001322324.1:c.957C>G, NM_001322325.2:c.957C>G, NM_001322325.1:c.957C>G, NM_001190729.2:c.957C>G, NM_001190729.1:c.957C>G, NM_001322320.2:c.957C>G, NM_001322320.1:c.957C>G, NM_001322323.2:c.867C>G, NM_001322323.1:c.867C>G, XM_047424118.1:c.957C>G, XM_047424123.1:c.957C>G, XM_047424125.1:c.867C>G, XM_047424134.1:c.957C>G, XM_047424120.1:c.957C>G, XM_047424124.1:c.906C>G, XM_047424127.1:c.867C>G, XM_047424128.1:c.867C>G, XM_047424129.1:c.867C>G, XM_047424130.1:c.816C>G, XM_047424135.1:c.774C>G, XM_047424119.1:c.957C>G, XM_047424138.1:c.957C>G, XM_047424121.1:c.957C>G, XM_047424139.1:c.957C>G, NM_001366400.1:c.957C>G, XM_047424144.1:c.906C>G, XM_047424146.1:c.867C>G, XM_047424148.1:c.867C>G, XM_047424150.1:c.867C>G, XM_017015346.1:c.957C>G, XM_047424152.1:c.774C>G, XM_047424137.1:c.957C>G, XM_047424140.1:c.723C>G, NM_001366401.1:c.957C>G, XM_047424153.1:c.723C>G, XM_047424147.1:c.867C>G, XM_047424149.1:c.774C>G, XM_047424114.1:c.957C>G, XM_047424116.1:c.957C>G, XM_047424117.1:c.906C>G, XM_047424122.1:c.867C>G, XM_047424126.1:c.816C>G, XM_047424113.1:c.957C>G, XM_047424115.1:c.957C>G, XM_047424131.1:c.957C>G, XM_047424132.1:c.957C>G, XM_047424136.1:c.906C>G, XM_047424142.1:c.867C>G, XM_047424143.1:c.867C>G, XM_047424145.1:c.816C>G, XM_047424151.1:c.774C>G, XM_047424133.1:c.957C>G, XM_047424141.1:c.867C>G, NM_001190728.1:c.957C>G

            6.

            rs1477407589 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:127212235 (GRCh38)
              9:129974514 (GRCh37)
              Canonical SPDI:
              NC_000009.12:127212234:C:T
              Gene:
              RALGPS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000009.12:g.127212235C>T, NC_000009.11:g.129974514C>T, NM_014636.3:c.1352C>T, NM_014636.2:c.1352C>T, XM_011519233.2:c.1436C>T, XM_011519233.1:c.1436C>T, NM_001322321.2:c.1433C>T, NM_001322321.1:c.1433C>T, NM_001322322.2:c.1433C>T, NM_001322322.1:c.1433C>T, NM_001322324.2:c.1223C>T, NM_001322324.1:c.1223C>T, NM_001322325.2:c.1436C>T, NM_001322325.1:c.1436C>T, NM_001190729.2:c.1226C>T, NM_001190729.1:c.1226C>T, NM_001322320.2:c.1226C>T, NM_001322320.1:c.1226C>T, NM_001322323.2:c.1136C>T, NM_001322323.1:c.1136C>T, XM_047424118.1:c.1433C>T, XM_047424123.1:c.1352C>T, XM_047424125.1:c.1346C>T, XM_047424134.1:c.1226C>T, XM_047424120.1:c.1436C>T, XM_047424124.1:c.1385C>T, XM_047424127.1:c.1346C>T, XM_047424128.1:c.1343C>T, XM_047424129.1:c.1346C>T, XM_047424130.1:c.1292C>T, XM_047424135.1:c.1253C>T, XM_047424119.1:c.1436C>T, XM_047424138.1:c.1226C>T, XM_047424121.1:c.1436C>T, XM_047424139.1:c.1226C>T, NM_001366400.1:c.1352C>T, XM_047424144.1:c.1175C>T, XM_047424146.1:c.1136C>T, XM_047424148.1:c.1133C>T, XM_047424150.1:c.1136C>T, XM_017015346.1:c.1352C>T, XM_047424152.1:c.1043C>T, XM_047424137.1:c.1226C>T, XM_047424140.1:c.1202C>T, NM_001366401.1:c.1226C>T, XM_047424153.1:c.992C>T, XM_047424147.1:c.1136C>T, XM_047424149.1:c.1043C>T, XM_047424114.1:c.1433C>T, XM_047424116.1:c.1436C>T, XM_047424117.1:c.1385C>T, XM_047424122.1:c.1346C>T, XM_047424126.1:c.1295C>T, XM_047424113.1:c.1436C>T, XM_047424115.1:c.1433C>T, XM_047424131.1:c.1223C>T, XM_047424132.1:c.1226C>T, XM_047424136.1:c.1175C>T, XM_047424142.1:c.1133C>T, XM_047424143.1:c.1136C>T, XM_047424145.1:c.1085C>T, XM_047424151.1:c.1043C>T, XM_047424133.1:c.1226C>T, XM_047424141.1:c.1133C>T, NM_001190728.1:c.1226C>T, NP_055451.1:p.Ala451Val, XP_011517535.1:p.Ala479Val, NP_001309250.1:p.Ala478Val, NP_001309251.1:p.Ala478Val, NP_001309253.1:p.Ala408Val, NP_001309254.1:p.Ala479Val, NP_001177658.1:p.Ala409Val, NP_001309249.1:p.Ala409Val, NP_001309252.1:p.Ala379Val, XP_047280074.1:p.Ala478Val, XP_047280079.1:p.Ala451Val, XP_047280081.1:p.Ala449Val, XP_047280090.1:p.Ala409Val, XP_047280076.1:p.Ala479Val, XP_047280080.1:p.Ala462Val, XP_047280083.1:p.Ala449Val, XP_047280084.1:p.Ala448Val, XP_047280085.1:p.Ala449Val, XP_047280086.1:p.Ala431Val, XP_047280091.1:p.Ala418Val, XP_047280075.1:p.Ala479Val, XP_047280094.1:p.Ala409Val, XP_047280077.1:p.Ala479Val, XP_047280095.1:p.Ala409Val, NP_001353329.1:p.Ala451Val, XP_047280100.1:p.Ala392Val, XP_047280102.1:p.Ala379Val, XP_047280104.1:p.Ala378Val, XP_047280106.1:p.Ala379Val, XP_016870835.1:p.Ala451Val, XP_047280108.1:p.Ala348Val, XP_047280093.1:p.Ala409Val, XP_047280096.1:p.Ala401Val, NP_001353330.1:p.Ala409Val, XP_047280109.1:p.Ala331Val, XP_047280103.1:p.Ala379Val, XP_047280105.1:p.Ala348Val, XP_047280070.1:p.Ala478Val, XP_047280072.1:p.Ala479Val, XP_047280073.1:p.Ala462Val, XP_047280078.1:p.Ala449Val, XP_047280082.1:p.Ala432Val, XP_047280069.1:p.Ala479Val, XP_047280071.1:p.Ala478Val, XP_047280087.1:p.Ala408Val, XP_047280088.1:p.Ala409Val, XP_047280092.1:p.Ala392Val, XP_047280098.1:p.Ala378Val, XP_047280099.1:p.Ala379Val, XP_047280101.1:p.Ala362Val, XP_047280107.1:p.Ala348Val, XP_047280089.1:p.Ala409Val, XP_047280097.1:p.Ala378Val, NP_001177657.1:p.Ala409Val

              7.

              rs1474492210 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:127166163 (GRCh38)
                9:129928442 (GRCh37)
                Canonical SPDI:
                NC_000009.12:127166162:T:C
                Gene:
                RALGPS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.127166163T>C, NC_000009.11:g.129928442T>C, NM_014636.3:c.705T>C, NM_014636.2:c.705T>C, XM_011519233.2:c.705T>C, XM_011519233.1:c.705T>C, NM_001322321.2:c.705T>C, NM_001322321.1:c.705T>C, NM_001322322.2:c.705T>C, NM_001322322.1:c.705T>C, NM_001322324.2:c.705T>C, NM_001322324.1:c.705T>C, NM_001322325.2:c.705T>C, NM_001322325.1:c.705T>C, NM_001190729.2:c.705T>C, NM_001190729.1:c.705T>C, NM_001322320.2:c.705T>C, NM_001322320.1:c.705T>C, NM_001322323.2:c.615T>C, NM_001322323.1:c.615T>C, NM_001190730.2:c.705T>C, NM_001190730.1:c.705T>C, XM_047424118.1:c.705T>C, XM_047424123.1:c.705T>C, XM_047424125.1:c.615T>C, XM_047424134.1:c.705T>C, XM_047424120.1:c.705T>C, XM_047424124.1:c.654T>C, XM_047424127.1:c.615T>C, XM_047424128.1:c.615T>C, XM_047424129.1:c.615T>C, XM_047424130.1:c.564T>C, XM_047424135.1:c.522T>C, XM_047424119.1:c.705T>C, XM_047424138.1:c.705T>C, XM_047424121.1:c.705T>C, XM_047424139.1:c.705T>C, NM_001366400.1:c.705T>C, XM_047424144.1:c.654T>C, XM_047424146.1:c.615T>C, XM_047424148.1:c.615T>C, XM_047424150.1:c.615T>C, XM_017015346.1:c.705T>C, XM_047424152.1:c.522T>C, XM_047424137.1:c.705T>C, XM_047424140.1:c.471T>C, NM_001366401.1:c.705T>C, XM_047424153.1:c.471T>C, XM_047424147.1:c.615T>C, XM_047424149.1:c.522T>C, XM_047424114.1:c.705T>C, XM_047424116.1:c.705T>C, XM_047424117.1:c.654T>C, XM_047424122.1:c.615T>C, XM_047424126.1:c.564T>C, XM_047424113.1:c.705T>C, XM_047424115.1:c.705T>C, XM_047424131.1:c.705T>C, XM_047424132.1:c.705T>C, XM_047424136.1:c.654T>C, XM_047424142.1:c.615T>C, XM_047424143.1:c.615T>C, XM_047424145.1:c.564T>C, XM_047424151.1:c.522T>C, XM_047424133.1:c.705T>C, XM_047424141.1:c.615T>C, NM_001190728.1:c.705T>C

                8.

                rs1472233672 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:126965851 (GRCh38)
                  9:129728130 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:126965850:G:A
                  Gene:
                  RALGPS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000009.12:g.126965851G>A, NC_000009.11:g.129728130G>A, NM_014636.3:c.65G>A, NM_014636.2:c.65G>A, XM_011519233.2:c.65G>A, XM_011519233.1:c.65G>A, NM_001322321.2:c.65G>A, NM_001322321.1:c.65G>A, NM_001322322.2:c.65G>A, NM_001322322.1:c.65G>A, NM_001322324.2:c.65G>A, NM_001322324.1:c.65G>A, NM_001322325.2:c.65G>A, NM_001322325.1:c.65G>A, NM_001190729.2:c.65G>A, NM_001190729.1:c.65G>A, NM_001322320.2:c.65G>A, NM_001322320.1:c.65G>A, NM_001322323.2:c.65G>A, NM_001322323.1:c.65G>A, NM_001190730.2:c.65G>A, NM_001190730.1:c.65G>A, XM_047424118.1:c.65G>A, XM_047424123.1:c.65G>A, XM_047424125.1:c.65G>A, XM_047424134.1:c.65G>A, XM_047424120.1:c.65G>A, XM_047424124.1:c.65G>A, XM_047424127.1:c.65G>A, XM_047424128.1:c.65G>A, XM_047424129.1:c.65G>A, XM_047424130.1:c.65G>A, XM_047424135.1:c.65G>A, XM_047424119.1:c.65G>A, XM_047424138.1:c.65G>A, XM_047424121.1:c.65G>A, XM_047424139.1:c.65G>A, NM_001366400.1:c.65G>A, XM_047424144.1:c.65G>A, XM_047424146.1:c.65G>A, XM_047424148.1:c.65G>A, XM_047424150.1:c.65G>A, XM_017015346.1:c.65G>A, XM_047424152.1:c.65G>A, XM_047424137.1:c.65G>A, XM_047424140.1:c.65G>A, NM_001366401.1:c.65G>A, XM_047424153.1:c.65G>A, XM_047424147.1:c.65G>A, XM_047424149.1:c.65G>A, XM_047424114.1:c.65G>A, XM_047424116.1:c.65G>A, XM_047424117.1:c.65G>A, XM_047424122.1:c.65G>A, XM_047424126.1:c.65G>A, XM_047424113.1:c.65G>A, XM_047424115.1:c.65G>A, XM_047424131.1:c.65G>A, XM_047424132.1:c.65G>A, XM_047424136.1:c.65G>A, XM_047424142.1:c.65G>A, XM_047424143.1:c.65G>A, XM_047424145.1:c.65G>A, XM_047424151.1:c.65G>A, XM_047424133.1:c.65G>A, XM_047424141.1:c.65G>A, NM_001190728.1:c.65G>A, NM_001366399.1:c.65G>A, NP_055451.1:p.Ser22Asn, XP_011517535.1:p.Ser22Asn, NP_001309250.1:p.Ser22Asn, NP_001309251.1:p.Ser22Asn, NP_001309253.1:p.Ser22Asn, NP_001309254.1:p.Ser22Asn, NP_001177658.1:p.Ser22Asn, NP_001309249.1:p.Ser22Asn, NP_001309252.1:p.Ser22Asn, NP_001177659.1:p.Ser22Asn, XP_047280074.1:p.Ser22Asn, XP_047280079.1:p.Ser22Asn, XP_047280081.1:p.Ser22Asn, XP_047280090.1:p.Ser22Asn, XP_047280076.1:p.Ser22Asn, XP_047280080.1:p.Ser22Asn, XP_047280083.1:p.Ser22Asn, XP_047280084.1:p.Ser22Asn, XP_047280085.1:p.Ser22Asn, XP_047280086.1:p.Ser22Asn, XP_047280091.1:p.Ser22Asn, XP_047280075.1:p.Ser22Asn, XP_047280094.1:p.Ser22Asn, XP_047280077.1:p.Ser22Asn, XP_047280095.1:p.Ser22Asn, NP_001353329.1:p.Ser22Asn, XP_047280100.1:p.Ser22Asn, XP_047280102.1:p.Ser22Asn, XP_047280104.1:p.Ser22Asn, XP_047280106.1:p.Ser22Asn, XP_016870835.1:p.Ser22Asn, XP_047280108.1:p.Ser22Asn, XP_047280093.1:p.Ser22Asn, XP_047280096.1:p.Ser22Asn, NP_001353330.1:p.Ser22Asn, XP_047280109.1:p.Ser22Asn, XP_047280103.1:p.Ser22Asn, XP_047280105.1:p.Ser22Asn, XP_047280070.1:p.Ser22Asn, XP_047280072.1:p.Ser22Asn, XP_047280073.1:p.Ser22Asn, XP_047280078.1:p.Ser22Asn, XP_047280082.1:p.Ser22Asn, XP_047280069.1:p.Ser22Asn, XP_047280071.1:p.Ser22Asn, XP_047280087.1:p.Ser22Asn, XP_047280088.1:p.Ser22Asn, XP_047280092.1:p.Ser22Asn, XP_047280098.1:p.Ser22Asn, XP_047280099.1:p.Ser22Asn, XP_047280101.1:p.Ser22Asn, XP_047280107.1:p.Ser22Asn, XP_047280089.1:p.Ser22Asn, XP_047280097.1:p.Ser22Asn, NP_001177657.1:p.Ser22Asn, NP_001353328.1:p.Ser22Asn

                  9.

                  rs1470007475 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    9:127166138 (GRCh38)
                    9:129928417 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:127166137:A:G
                    Gene:
                    RALGPS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.127166138A>G, NC_000009.11:g.129928417A>G, NM_014636.3:c.680A>G, NM_014636.2:c.680A>G, XM_011519233.2:c.680A>G, XM_011519233.1:c.680A>G, NM_001322321.2:c.680A>G, NM_001322321.1:c.680A>G, NM_001322322.2:c.680A>G, NM_001322322.1:c.680A>G, NM_001322324.2:c.680A>G, NM_001322324.1:c.680A>G, NM_001322325.2:c.680A>G, NM_001322325.1:c.680A>G, NM_001190729.2:c.680A>G, NM_001190729.1:c.680A>G, NM_001322320.2:c.680A>G, NM_001322320.1:c.680A>G, NM_001322323.2:c.590A>G, NM_001322323.1:c.590A>G, NM_001190730.2:c.680A>G, NM_001190730.1:c.680A>G, XM_047424118.1:c.680A>G, XM_047424123.1:c.680A>G, XM_047424125.1:c.590A>G, XM_047424134.1:c.680A>G, XM_047424120.1:c.680A>G, XM_047424124.1:c.629A>G, XM_047424127.1:c.590A>G, XM_047424128.1:c.590A>G, XM_047424129.1:c.590A>G, XM_047424130.1:c.539A>G, XM_047424135.1:c.497A>G, XM_047424119.1:c.680A>G, XM_047424138.1:c.680A>G, XM_047424121.1:c.680A>G, XM_047424139.1:c.680A>G, NM_001366400.1:c.680A>G, XM_047424144.1:c.629A>G, XM_047424146.1:c.590A>G, XM_047424148.1:c.590A>G, XM_047424150.1:c.590A>G, XM_017015346.1:c.680A>G, XM_047424152.1:c.497A>G, XM_047424137.1:c.680A>G, XM_047424140.1:c.446A>G, NM_001366401.1:c.680A>G, XM_047424153.1:c.446A>G, XM_047424147.1:c.590A>G, XM_047424149.1:c.497A>G, XM_047424114.1:c.680A>G, XM_047424116.1:c.680A>G, XM_047424117.1:c.629A>G, XM_047424122.1:c.590A>G, XM_047424126.1:c.539A>G, XM_047424113.1:c.680A>G, XM_047424115.1:c.680A>G, XM_047424131.1:c.680A>G, XM_047424132.1:c.680A>G, XM_047424136.1:c.629A>G, XM_047424142.1:c.590A>G, XM_047424143.1:c.590A>G, XM_047424145.1:c.539A>G, XM_047424151.1:c.497A>G, XM_047424133.1:c.680A>G, XM_047424141.1:c.590A>G, NM_001190728.1:c.680A>G, NP_055451.1:p.Glu227Gly, XP_011517535.1:p.Glu227Gly, NP_001309250.1:p.Glu227Gly, NP_001309251.1:p.Glu227Gly, NP_001309253.1:p.Glu227Gly, NP_001309254.1:p.Glu227Gly, NP_001177658.1:p.Glu227Gly, NP_001309249.1:p.Glu227Gly, NP_001309252.1:p.Glu197Gly, NP_001177659.1:p.Glu227Gly, XP_047280074.1:p.Glu227Gly, XP_047280079.1:p.Glu227Gly, XP_047280081.1:p.Glu197Gly, XP_047280090.1:p.Glu227Gly, XP_047280076.1:p.Glu227Gly, XP_047280080.1:p.Glu210Gly, XP_047280083.1:p.Glu197Gly, XP_047280084.1:p.Glu197Gly, XP_047280085.1:p.Glu197Gly, XP_047280086.1:p.Glu180Gly, XP_047280091.1:p.Glu166Gly, XP_047280075.1:p.Glu227Gly, XP_047280094.1:p.Glu227Gly, XP_047280077.1:p.Glu227Gly, XP_047280095.1:p.Glu227Gly, NP_001353329.1:p.Glu227Gly, XP_047280100.1:p.Glu210Gly, XP_047280102.1:p.Glu197Gly, XP_047280104.1:p.Glu197Gly, XP_047280106.1:p.Glu197Gly, XP_016870835.1:p.Glu227Gly, XP_047280108.1:p.Glu166Gly, XP_047280093.1:p.Glu227Gly, XP_047280096.1:p.Glu149Gly, NP_001353330.1:p.Glu227Gly, XP_047280109.1:p.Glu149Gly, XP_047280103.1:p.Glu197Gly, XP_047280105.1:p.Glu166Gly, XP_047280070.1:p.Glu227Gly, XP_047280072.1:p.Glu227Gly, XP_047280073.1:p.Glu210Gly, XP_047280078.1:p.Glu197Gly, XP_047280082.1:p.Glu180Gly, XP_047280069.1:p.Glu227Gly, XP_047280071.1:p.Glu227Gly, XP_047280087.1:p.Glu227Gly, XP_047280088.1:p.Glu227Gly, XP_047280092.1:p.Glu210Gly, XP_047280098.1:p.Glu197Gly, XP_047280099.1:p.Glu197Gly, XP_047280101.1:p.Glu180Gly, XP_047280107.1:p.Glu166Gly, XP_047280089.1:p.Glu227Gly, XP_047280097.1:p.Glu197Gly, NP_001177657.1:p.Glu227Gly

                    10.

                    rs1466244028 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:127069305 (GRCh38)
                      9:129831584 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:127069304:A:G
                      Gene:
                      RALGPS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.127069305A>G, NC_000009.11:g.129831584A>G, NM_014636.3:c.559A>G, NM_014636.2:c.559A>G, XM_011519233.2:c.559A>G, XM_011519233.1:c.559A>G, NM_001322321.2:c.559A>G, NM_001322321.1:c.559A>G, NM_001322322.2:c.559A>G, NM_001322322.1:c.559A>G, NM_001322324.2:c.559A>G, NM_001322324.1:c.559A>G, NM_001322325.2:c.559A>G, NM_001322325.1:c.559A>G, NM_001190729.2:c.559A>G, NM_001190729.1:c.559A>G, NM_001322320.2:c.559A>G, NM_001322320.1:c.559A>G, NM_001322323.2:c.469A>G, NM_001322323.1:c.469A>G, NM_001190730.2:c.559A>G, NM_001190730.1:c.559A>G, XM_047424118.1:c.559A>G, XM_047424123.1:c.559A>G, XM_047424125.1:c.469A>G, XM_047424134.1:c.559A>G, XM_047424120.1:c.559A>G, XM_047424124.1:c.508A>G, XM_047424127.1:c.469A>G, XM_047424128.1:c.469A>G, XM_047424129.1:c.469A>G, XM_047424130.1:c.418A>G, XM_047424135.1:c.376A>G, XM_047424119.1:c.559A>G, XM_047424138.1:c.559A>G, XM_047424121.1:c.559A>G, XM_047424139.1:c.559A>G, NM_001366400.1:c.559A>G, XM_047424144.1:c.508A>G, XM_047424146.1:c.469A>G, XM_047424148.1:c.469A>G, XM_047424150.1:c.469A>G, XM_017015346.1:c.559A>G, XM_047424152.1:c.376A>G, XM_047424137.1:c.559A>G, XM_047424140.1:c.325A>G, NM_001366401.1:c.559A>G, XM_047424153.1:c.325A>G, XM_047424147.1:c.469A>G, XM_047424149.1:c.376A>G, XM_047424114.1:c.559A>G, XM_047424116.1:c.559A>G, XM_047424117.1:c.508A>G, XM_047424122.1:c.469A>G, XM_047424126.1:c.418A>G, XM_047424113.1:c.559A>G, XM_047424115.1:c.559A>G, XM_047424131.1:c.559A>G, XM_047424132.1:c.559A>G, XM_047424136.1:c.508A>G, XM_047424142.1:c.469A>G, XM_047424143.1:c.469A>G, XM_047424145.1:c.418A>G, XM_047424151.1:c.376A>G, XM_047424133.1:c.559A>G, XM_047424141.1:c.469A>G, NM_001190728.1:c.559A>G, NP_055451.1:p.Thr187Ala, XP_011517535.1:p.Thr187Ala, NP_001309250.1:p.Thr187Ala, NP_001309251.1:p.Thr187Ala, NP_001309253.1:p.Thr187Ala, NP_001309254.1:p.Thr187Ala, NP_001177658.1:p.Thr187Ala, NP_001309249.1:p.Thr187Ala, NP_001309252.1:p.Thr157Ala, NP_001177659.1:p.Thr187Ala, XP_047280074.1:p.Thr187Ala, XP_047280079.1:p.Thr187Ala, XP_047280081.1:p.Thr157Ala, XP_047280090.1:p.Thr187Ala, XP_047280076.1:p.Thr187Ala, XP_047280080.1:p.Thr170Ala, XP_047280083.1:p.Thr157Ala, XP_047280084.1:p.Thr157Ala, XP_047280085.1:p.Thr157Ala, XP_047280086.1:p.Thr140Ala, XP_047280091.1:p.Thr126Ala, XP_047280075.1:p.Thr187Ala, XP_047280094.1:p.Thr187Ala, XP_047280077.1:p.Thr187Ala, XP_047280095.1:p.Thr187Ala, NP_001353329.1:p.Thr187Ala, XP_047280100.1:p.Thr170Ala, XP_047280102.1:p.Thr157Ala, XP_047280104.1:p.Thr157Ala, XP_047280106.1:p.Thr157Ala, XP_016870835.1:p.Thr187Ala, XP_047280108.1:p.Thr126Ala, XP_047280093.1:p.Thr187Ala, XP_047280096.1:p.Thr109Ala, NP_001353330.1:p.Thr187Ala, XP_047280109.1:p.Thr109Ala, XP_047280103.1:p.Thr157Ala, XP_047280105.1:p.Thr126Ala, XP_047280070.1:p.Thr187Ala, XP_047280072.1:p.Thr187Ala, XP_047280073.1:p.Thr170Ala, XP_047280078.1:p.Thr157Ala, XP_047280082.1:p.Thr140Ala, XP_047280069.1:p.Thr187Ala, XP_047280071.1:p.Thr187Ala, XP_047280087.1:p.Thr187Ala, XP_047280088.1:p.Thr187Ala, XP_047280092.1:p.Thr170Ala, XP_047280098.1:p.Thr157Ala, XP_047280099.1:p.Thr157Ala, XP_047280101.1:p.Thr140Ala, XP_047280107.1:p.Thr126Ala, XP_047280089.1:p.Thr187Ala, XP_047280097.1:p.Thr157Ala, NP_001177657.1:p.Thr187Ala

                      11.

                      rs1461376136 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:127166176 (GRCh38)
                        9:129928455 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:127166175:A:G
                        Gene:
                        RALGPS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000008/2 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000009.12:g.127166176A>G, NC_000009.11:g.129928455A>G, NM_014636.3:c.718A>G, NM_014636.2:c.718A>G, XM_011519233.2:c.718A>G, XM_011519233.1:c.718A>G, NM_001322321.2:c.718A>G, NM_001322321.1:c.718A>G, NM_001322322.2:c.718A>G, NM_001322322.1:c.718A>G, NM_001322324.2:c.718A>G, NM_001322324.1:c.718A>G, NM_001322325.2:c.718A>G, NM_001322325.1:c.718A>G, NM_001190729.2:c.718A>G, NM_001190729.1:c.718A>G, NM_001322320.2:c.718A>G, NM_001322320.1:c.718A>G, NM_001322323.2:c.628A>G, NM_001322323.1:c.628A>G, NM_001190730.2:c.718A>G, NM_001190730.1:c.718A>G, XM_047424118.1:c.718A>G, XM_047424123.1:c.718A>G, XM_047424125.1:c.628A>G, XM_047424134.1:c.718A>G, XM_047424120.1:c.718A>G, XM_047424124.1:c.667A>G, XM_047424127.1:c.628A>G, XM_047424128.1:c.628A>G, XM_047424129.1:c.628A>G, XM_047424130.1:c.577A>G, XM_047424135.1:c.535A>G, XM_047424119.1:c.718A>G, XM_047424138.1:c.718A>G, XM_047424121.1:c.718A>G, XM_047424139.1:c.718A>G, NM_001366400.1:c.718A>G, XM_047424144.1:c.667A>G, XM_047424146.1:c.628A>G, XM_047424148.1:c.628A>G, XM_047424150.1:c.628A>G, XM_017015346.1:c.718A>G, XM_047424152.1:c.535A>G, XM_047424137.1:c.718A>G, XM_047424140.1:c.484A>G, NM_001366401.1:c.718A>G, XM_047424153.1:c.484A>G, XM_047424147.1:c.628A>G, XM_047424149.1:c.535A>G, XM_047424114.1:c.718A>G, XM_047424116.1:c.718A>G, XM_047424117.1:c.667A>G, XM_047424122.1:c.628A>G, XM_047424126.1:c.577A>G, XM_047424113.1:c.718A>G, XM_047424115.1:c.718A>G, XM_047424131.1:c.718A>G, XM_047424132.1:c.718A>G, XM_047424136.1:c.667A>G, XM_047424142.1:c.628A>G, XM_047424143.1:c.628A>G, XM_047424145.1:c.577A>G, XM_047424151.1:c.535A>G, XM_047424133.1:c.718A>G, XM_047424141.1:c.628A>G, NM_001190728.1:c.718A>G, NP_055451.1:p.Ile240Val, XP_011517535.1:p.Ile240Val, NP_001309250.1:p.Ile240Val, NP_001309251.1:p.Ile240Val, NP_001309253.1:p.Ile240Val, NP_001309254.1:p.Ile240Val, NP_001177658.1:p.Ile240Val, NP_001309249.1:p.Ile240Val, NP_001309252.1:p.Ile210Val, NP_001177659.1:p.Ile240Val, XP_047280074.1:p.Ile240Val, XP_047280079.1:p.Ile240Val, XP_047280081.1:p.Ile210Val, XP_047280090.1:p.Ile240Val, XP_047280076.1:p.Ile240Val, XP_047280080.1:p.Ile223Val, XP_047280083.1:p.Ile210Val, XP_047280084.1:p.Ile210Val, XP_047280085.1:p.Ile210Val, XP_047280086.1:p.Ile193Val, XP_047280091.1:p.Ile179Val, XP_047280075.1:p.Ile240Val, XP_047280094.1:p.Ile240Val, XP_047280077.1:p.Ile240Val, XP_047280095.1:p.Ile240Val, NP_001353329.1:p.Ile240Val, XP_047280100.1:p.Ile223Val, XP_047280102.1:p.Ile210Val, XP_047280104.1:p.Ile210Val, XP_047280106.1:p.Ile210Val, XP_016870835.1:p.Ile240Val, XP_047280108.1:p.Ile179Val, XP_047280093.1:p.Ile240Val, XP_047280096.1:p.Ile162Val, NP_001353330.1:p.Ile240Val, XP_047280109.1:p.Ile162Val, XP_047280103.1:p.Ile210Val, XP_047280105.1:p.Ile179Val, XP_047280070.1:p.Ile240Val, XP_047280072.1:p.Ile240Val, XP_047280073.1:p.Ile223Val, XP_047280078.1:p.Ile210Val, XP_047280082.1:p.Ile193Val, XP_047280069.1:p.Ile240Val, XP_047280071.1:p.Ile240Val, XP_047280087.1:p.Ile240Val, XP_047280088.1:p.Ile240Val, XP_047280092.1:p.Ile223Val, XP_047280098.1:p.Ile210Val, XP_047280099.1:p.Ile210Val, XP_047280101.1:p.Ile193Val, XP_047280107.1:p.Ile179Val, XP_047280089.1:p.Ile240Val, XP_047280097.1:p.Ile210Val, NP_001177657.1:p.Ile240Val

                        12.

                        rs1461363487 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:127195202 (GRCh38)
                          9:129957481 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:127195201:A:G
                          Gene:
                          RALGPS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.127195202A>G, NC_000009.11:g.129957481A>G, NM_014636.3:c.1022A>G, NM_014636.2:c.1022A>G, XM_011519233.2:c.1022A>G, XM_011519233.1:c.1022A>G, NM_001322321.2:c.1022A>G, NM_001322321.1:c.1022A>G, NM_001322322.2:c.1022A>G, NM_001322322.1:c.1022A>G, NM_001322324.2:c.1022A>G, NM_001322324.1:c.1022A>G, NM_001322325.2:c.1022A>G, NM_001322325.1:c.1022A>G, NM_001190729.2:c.1022A>G, NM_001190729.1:c.1022A>G, NM_001322320.2:c.1022A>G, NM_001322320.1:c.1022A>G, NM_001322323.2:c.932A>G, NM_001322323.1:c.932A>G, XM_047424118.1:c.1022A>G, XM_047424123.1:c.1022A>G, XM_047424125.1:c.932A>G, XM_047424134.1:c.1022A>G, XM_047424120.1:c.1022A>G, XM_047424124.1:c.971A>G, XM_047424127.1:c.932A>G, XM_047424128.1:c.932A>G, XM_047424129.1:c.932A>G, XM_047424130.1:c.881A>G, XM_047424135.1:c.839A>G, XM_047424119.1:c.1022A>G, XM_047424138.1:c.1022A>G, XM_047424121.1:c.1022A>G, XM_047424139.1:c.1022A>G, NM_001366400.1:c.1022A>G, XM_047424144.1:c.971A>G, XM_047424146.1:c.932A>G, XM_047424148.1:c.932A>G, XM_047424150.1:c.932A>G, XM_017015346.1:c.1022A>G, XM_047424152.1:c.839A>G, XM_047424137.1:c.1022A>G, XM_047424140.1:c.788A>G, NM_001366401.1:c.1022A>G, XM_047424153.1:c.788A>G, XM_047424147.1:c.932A>G, XM_047424149.1:c.839A>G, XM_047424114.1:c.1022A>G, XM_047424116.1:c.1022A>G, XM_047424117.1:c.971A>G, XM_047424122.1:c.932A>G, XM_047424126.1:c.881A>G, XM_047424113.1:c.1022A>G, XM_047424115.1:c.1022A>G, XM_047424131.1:c.1022A>G, XM_047424132.1:c.1022A>G, XM_047424136.1:c.971A>G, XM_047424142.1:c.932A>G, XM_047424143.1:c.932A>G, XM_047424145.1:c.881A>G, XM_047424151.1:c.839A>G, XM_047424133.1:c.1022A>G, XM_047424141.1:c.932A>G, NM_001190728.1:c.1022A>G, NP_055451.1:p.His341Arg, XP_011517535.1:p.His341Arg, NP_001309250.1:p.His341Arg, NP_001309251.1:p.His341Arg, NP_001309253.1:p.His341Arg, NP_001309254.1:p.His341Arg, NP_001177658.1:p.His341Arg, NP_001309249.1:p.His341Arg, NP_001309252.1:p.His311Arg, XP_047280074.1:p.His341Arg, XP_047280079.1:p.His341Arg, XP_047280081.1:p.His311Arg, XP_047280090.1:p.His341Arg, XP_047280076.1:p.His341Arg, XP_047280080.1:p.His324Arg, XP_047280083.1:p.His311Arg, XP_047280084.1:p.His311Arg, XP_047280085.1:p.His311Arg, XP_047280086.1:p.His294Arg, XP_047280091.1:p.His280Arg, XP_047280075.1:p.His341Arg, XP_047280094.1:p.His341Arg, XP_047280077.1:p.His341Arg, XP_047280095.1:p.His341Arg, NP_001353329.1:p.His341Arg, XP_047280100.1:p.His324Arg, XP_047280102.1:p.His311Arg, XP_047280104.1:p.His311Arg, XP_047280106.1:p.His311Arg, XP_016870835.1:p.His341Arg, XP_047280108.1:p.His280Arg, XP_047280093.1:p.His341Arg, XP_047280096.1:p.His263Arg, NP_001353330.1:p.His341Arg, XP_047280109.1:p.His263Arg, XP_047280103.1:p.His311Arg, XP_047280105.1:p.His280Arg, XP_047280070.1:p.His341Arg, XP_047280072.1:p.His341Arg, XP_047280073.1:p.His324Arg, XP_047280078.1:p.His311Arg, XP_047280082.1:p.His294Arg, XP_047280069.1:p.His341Arg, XP_047280071.1:p.His341Arg, XP_047280087.1:p.His341Arg, XP_047280088.1:p.His341Arg, XP_047280092.1:p.His324Arg, XP_047280098.1:p.His311Arg, XP_047280099.1:p.His311Arg, XP_047280101.1:p.His294Arg, XP_047280107.1:p.His280Arg, XP_047280089.1:p.His341Arg, XP_047280097.1:p.His311Arg, NP_001177657.1:p.His341Arg

                          13.

                          rs1458640141 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:127212164 (GRCh38)
                            9:129974443 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:127212163:C:T
                            Gene:
                            RALGPS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000009.12:g.127212164C>T, NC_000009.11:g.129974443C>T, NM_014636.3:c.1281C>T, NM_014636.2:c.1281C>T, XM_011519233.2:c.1365C>T, XM_011519233.1:c.1365C>T, NM_001322321.2:c.1362C>T, NM_001322321.1:c.1362C>T, NM_001322322.2:c.1362C>T, NM_001322322.1:c.1362C>T, NM_001322324.2:c.1152C>T, NM_001322324.1:c.1152C>T, NM_001322325.2:c.1365C>T, NM_001322325.1:c.1365C>T, NM_001190729.2:c.1155C>T, NM_001190729.1:c.1155C>T, NM_001322320.2:c.1155C>T, NM_001322320.1:c.1155C>T, NM_001322323.2:c.1065C>T, NM_001322323.1:c.1065C>T, XM_047424118.1:c.1362C>T, XM_047424123.1:c.1281C>T, XM_047424125.1:c.1275C>T, XM_047424134.1:c.1155C>T, XM_047424120.1:c.1365C>T, XM_047424124.1:c.1314C>T, XM_047424127.1:c.1275C>T, XM_047424128.1:c.1272C>T, XM_047424129.1:c.1275C>T, XM_047424130.1:c.1221C>T, XM_047424135.1:c.1182C>T, XM_047424119.1:c.1365C>T, XM_047424138.1:c.1155C>T, XM_047424121.1:c.1365C>T, XM_047424139.1:c.1155C>T, NM_001366400.1:c.1281C>T, XM_047424144.1:c.1104C>T, XM_047424146.1:c.1065C>T, XM_047424148.1:c.1062C>T, XM_047424150.1:c.1065C>T, XM_017015346.1:c.1281C>T, XM_047424152.1:c.972C>T, XM_047424137.1:c.1155C>T, XM_047424140.1:c.1131C>T, NM_001366401.1:c.1155C>T, XM_047424153.1:c.921C>T, XM_047424147.1:c.1065C>T, XM_047424149.1:c.972C>T, XM_047424114.1:c.1362C>T, XM_047424116.1:c.1365C>T, XM_047424117.1:c.1314C>T, XM_047424122.1:c.1275C>T, XM_047424126.1:c.1224C>T, XM_047424113.1:c.1365C>T, XM_047424115.1:c.1362C>T, XM_047424131.1:c.1152C>T, XM_047424132.1:c.1155C>T, XM_047424136.1:c.1104C>T, XM_047424142.1:c.1062C>T, XM_047424143.1:c.1065C>T, XM_047424145.1:c.1014C>T, XM_047424151.1:c.972C>T, XM_047424133.1:c.1155C>T, XM_047424141.1:c.1062C>T, NM_001190728.1:c.1155C>T

                            14.

                            rs1457433682 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:127213022 (GRCh38)
                              9:129975301 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:127213021:A:G
                              Gene:
                              RALGPS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000111/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.127213022A>G, NC_000009.11:g.129975301A>G, NM_014636.3:c.1525A>G, NM_014636.2:c.1525A>G, XM_011519233.2:c.1609A>G, XM_011519233.1:c.1609A>G, NM_001322321.2:c.1606A>G, NM_001322321.1:c.1606A>G, NM_001322322.2:c.1582A>G, NM_001322322.1:c.1582A>G, NM_001322324.2:c.1396A>G, NM_001322324.1:c.1396A>G, NM_001322325.2:c.1609A>G, NM_001322325.1:c.1609A>G, NM_001190729.2:c.1399A>G, NM_001190729.1:c.1399A>G, NM_001322320.2:c.1399A>G, NM_001322320.1:c.1399A>G, NM_001322323.2:c.1309A>G, NM_001322323.1:c.1309A>G, XM_047424118.1:c.1582A>G, XM_047424123.1:c.1525A>G, XM_047424125.1:c.1495A>G, XM_047424134.1:c.1399A>G, XM_047424120.1:c.1585A>G, XM_047424124.1:c.1558A>G, XM_047424127.1:c.1519A>G, XM_047424128.1:c.1516A>G, XM_047424129.1:c.1495A>G, XM_047424130.1:c.1465A>G, XM_047424135.1:c.1426A>G, XM_047424119.1:c.1609A>G, XM_047424138.1:c.1399A>G, XM_047424121.1:c.1585A>G, XM_047424139.1:c.1375A>G, NM_001366400.1:c.1525A>G, XM_047424144.1:c.1348A>G, XM_047424146.1:c.1309A>G, XM_047424148.1:c.1306A>G, XM_047424150.1:c.1285A>G, XM_017015346.1:c.1501A>G, XM_047424152.1:c.1216A>G, XM_047424137.1:c.1399A>G, XM_047424140.1:c.1375A>G, NM_001366401.1:c.1399A>G, XM_047424153.1:c.1165A>G, XM_047424147.1:c.1309A>G, XM_047424149.1:c.1192A>G, XM_047424114.1:c.1606A>G, XM_047424116.1:c.1585A>G, XM_047424117.1:c.1558A>G, XM_047424122.1:c.1519A>G, XM_047424126.1:c.1468A>G, XM_047424113.1:c.1609A>G, XM_047424115.1:c.1606A>G, XM_047424131.1:c.1396A>G, XM_047424132.1:c.1375A>G, XM_047424136.1:c.1348A>G, XM_047424142.1:c.1306A>G, XM_047424143.1:c.1285A>G, XM_047424145.1:c.1258A>G, XM_047424151.1:c.1216A>G, XM_047424133.1:c.1375A>G, XM_047424141.1:c.1306A>G, NM_001190728.1:c.1375A>G, NP_055451.1:p.Ile509Val, XP_011517535.1:p.Ile537Val, NP_001309250.1:p.Ile536Val, NP_001309251.1:p.Ile528Val, NP_001309253.1:p.Ile466Val, NP_001309254.1:p.Ile537Val, NP_001177658.1:p.Ile467Val, NP_001309249.1:p.Ile467Val, NP_001309252.1:p.Ile437Val, XP_047280074.1:p.Ile528Val, XP_047280079.1:p.Ile509Val, XP_047280081.1:p.Ile499Val, XP_047280090.1:p.Ile467Val, XP_047280076.1:p.Ile529Val, XP_047280080.1:p.Ile520Val, XP_047280083.1:p.Ile507Val, XP_047280084.1:p.Ile506Val, XP_047280085.1:p.Ile499Val, XP_047280086.1:p.Ile489Val, XP_047280091.1:p.Ile476Val, XP_047280075.1:p.Ile537Val, XP_047280094.1:p.Ile467Val, XP_047280077.1:p.Ile529Val, XP_047280095.1:p.Ile459Val, NP_001353329.1:p.Ile509Val, XP_047280100.1:p.Ile450Val, XP_047280102.1:p.Ile437Val, XP_047280104.1:p.Ile436Val, XP_047280106.1:p.Ile429Val, XP_016870835.1:p.Ile501Val, XP_047280108.1:p.Ile406Val, XP_047280093.1:p.Ile467Val, XP_047280096.1:p.Ile459Val, NP_001353330.1:p.Ile467Val, XP_047280109.1:p.Ile389Val, XP_047280103.1:p.Ile437Val, XP_047280105.1:p.Ile398Val, XP_047280070.1:p.Ile536Val, XP_047280072.1:p.Ile529Val, XP_047280073.1:p.Ile520Val, XP_047280078.1:p.Ile507Val, XP_047280082.1:p.Ile490Val, XP_047280069.1:p.Ile537Val, XP_047280071.1:p.Ile536Val, XP_047280087.1:p.Ile466Val, XP_047280088.1:p.Ile459Val, XP_047280092.1:p.Ile450Val, XP_047280098.1:p.Ile436Val, XP_047280099.1:p.Ile429Val, XP_047280101.1:p.Ile420Val, XP_047280107.1:p.Ile406Val, XP_047280089.1:p.Ile459Val, XP_047280097.1:p.Ile436Val, NP_001177657.1:p.Ile459Val

                              15.

                              rs1450765195 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:127168679 (GRCh38)
                                9:129930958 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:127168678:A:C
                                Gene:
                                RALGPS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000009.12:g.127168679A>C, NC_000009.11:g.129930958A>C, NM_014636.3:c.749A>C, NM_014636.2:c.749A>C, XM_011519233.2:c.749A>C, XM_011519233.1:c.749A>C, NM_001322321.2:c.749A>C, NM_001322321.1:c.749A>C, NM_001322322.2:c.749A>C, NM_001322322.1:c.749A>C, NM_001322324.2:c.749A>C, NM_001322324.1:c.749A>C, NM_001322325.2:c.749A>C, NM_001322325.1:c.749A>C, NM_001190729.2:c.749A>C, NM_001190729.1:c.749A>C, NM_001322320.2:c.749A>C, NM_001322320.1:c.749A>C, NM_001322323.2:c.659A>C, NM_001322323.1:c.659A>C, NM_001190730.2:c.749A>C, NM_001190730.1:c.749A>C, XM_047424118.1:c.749A>C, XM_047424123.1:c.749A>C, XM_047424125.1:c.659A>C, XM_047424134.1:c.749A>C, XM_047424120.1:c.749A>C, XM_047424124.1:c.698A>C, XM_047424127.1:c.659A>C, XM_047424128.1:c.659A>C, XM_047424129.1:c.659A>C, XM_047424130.1:c.608A>C, XM_047424135.1:c.566A>C, XM_047424119.1:c.749A>C, XM_047424138.1:c.749A>C, XM_047424121.1:c.749A>C, XM_047424139.1:c.749A>C, NM_001366400.1:c.749A>C, XM_047424144.1:c.698A>C, XM_047424146.1:c.659A>C, XM_047424148.1:c.659A>C, XM_047424150.1:c.659A>C, XM_017015346.1:c.749A>C, XM_047424152.1:c.566A>C, XM_047424137.1:c.749A>C, XM_047424140.1:c.515A>C, NM_001366401.1:c.749A>C, XM_047424153.1:c.515A>C, XM_047424147.1:c.659A>C, XM_047424149.1:c.566A>C, XM_047424114.1:c.749A>C, XM_047424116.1:c.749A>C, XM_047424117.1:c.698A>C, XM_047424122.1:c.659A>C, XM_047424126.1:c.608A>C, XM_047424113.1:c.749A>C, XM_047424115.1:c.749A>C, XM_047424131.1:c.749A>C, XM_047424132.1:c.749A>C, XM_047424136.1:c.698A>C, XM_047424142.1:c.659A>C, XM_047424143.1:c.659A>C, XM_047424145.1:c.608A>C, XM_047424151.1:c.566A>C, XM_047424133.1:c.749A>C, XM_047424141.1:c.659A>C, NM_001190728.1:c.749A>C, NP_055451.1:p.Asp250Ala, XP_011517535.1:p.Asp250Ala, NP_001309250.1:p.Asp250Ala, NP_001309251.1:p.Asp250Ala, NP_001309253.1:p.Asp250Ala, NP_001309254.1:p.Asp250Ala, NP_001177658.1:p.Asp250Ala, NP_001309249.1:p.Asp250Ala, NP_001309252.1:p.Asp220Ala, NP_001177659.1:p.Asp250Ala, XP_047280074.1:p.Asp250Ala, XP_047280079.1:p.Asp250Ala, XP_047280081.1:p.Asp220Ala, XP_047280090.1:p.Asp250Ala, XP_047280076.1:p.Asp250Ala, XP_047280080.1:p.Asp233Ala, XP_047280083.1:p.Asp220Ala, XP_047280084.1:p.Asp220Ala, XP_047280085.1:p.Asp220Ala, XP_047280086.1:p.Asp203Ala, XP_047280091.1:p.Asp189Ala, XP_047280075.1:p.Asp250Ala, XP_047280094.1:p.Asp250Ala, XP_047280077.1:p.Asp250Ala, XP_047280095.1:p.Asp250Ala, NP_001353329.1:p.Asp250Ala, XP_047280100.1:p.Asp233Ala, XP_047280102.1:p.Asp220Ala, XP_047280104.1:p.Asp220Ala, XP_047280106.1:p.Asp220Ala, XP_016870835.1:p.Asp250Ala, XP_047280108.1:p.Asp189Ala, XP_047280093.1:p.Asp250Ala, XP_047280096.1:p.Asp172Ala, NP_001353330.1:p.Asp250Ala, XP_047280109.1:p.Asp172Ala, XP_047280103.1:p.Asp220Ala, XP_047280105.1:p.Asp189Ala, XP_047280070.1:p.Asp250Ala, XP_047280072.1:p.Asp250Ala, XP_047280073.1:p.Asp233Ala, XP_047280078.1:p.Asp220Ala, XP_047280082.1:p.Asp203Ala, XP_047280069.1:p.Asp250Ala, XP_047280071.1:p.Asp250Ala, XP_047280087.1:p.Asp250Ala, XP_047280088.1:p.Asp250Ala, XP_047280092.1:p.Asp233Ala, XP_047280098.1:p.Asp220Ala, XP_047280099.1:p.Asp220Ala, XP_047280101.1:p.Asp203Ala, XP_047280107.1:p.Asp189Ala, XP_047280089.1:p.Asp250Ala, XP_047280097.1:p.Asp220Ala, NP_001177657.1:p.Asp250Ala

                                16.

                                rs1449246705 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  9:127212639 (GRCh38)
                                  9:129974918 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:127212638:A:T
                                  Gene:
                                  RALGPS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000009.12:g.127212639A>T, NC_000009.11:g.129974918A>T, NM_014636.3:c.1366A>T, NM_014636.2:c.1366A>T, XM_011519233.2:c.1450A>T, XM_011519233.1:c.1450A>T, NM_001322321.2:c.1447A>T, NM_001322321.1:c.1447A>T, NM_001322322.2:c.1447A>T, NM_001322322.1:c.1447A>T, NM_001322324.2:c.1237A>T, NM_001322324.1:c.1237A>T, NM_001322325.2:c.1450A>T, NM_001322325.1:c.1450A>T, NM_001190729.2:c.1240A>T, NM_001190729.1:c.1240A>T, NM_001322320.2:c.1240A>T, NM_001322320.1:c.1240A>T, NM_001322323.2:c.1150A>T, NM_001322323.1:c.1150A>T, XM_047424118.1:c.1447A>T, XM_047424123.1:c.1366A>T, XM_047424125.1:c.1360A>T, XM_047424134.1:c.1240A>T, XM_047424120.1:c.1450A>T, XM_047424124.1:c.1399A>T, XM_047424127.1:c.1360A>T, XM_047424128.1:c.1357A>T, XM_047424129.1:c.1360A>T, XM_047424130.1:c.1306A>T, XM_047424135.1:c.1267A>T, XM_047424119.1:c.1450A>T, XM_047424138.1:c.1240A>T, XM_047424121.1:c.1450A>T, XM_047424139.1:c.1240A>T, NM_001366400.1:c.1366A>T, XM_047424144.1:c.1189A>T, XM_047424146.1:c.1150A>T, XM_047424148.1:c.1147A>T, XM_047424150.1:c.1150A>T, XM_017015346.1:c.1366A>T, XM_047424152.1:c.1057A>T, XM_047424137.1:c.1240A>T, XM_047424140.1:c.1216A>T, NM_001366401.1:c.1240A>T, XM_047424153.1:c.1006A>T, XM_047424147.1:c.1150A>T, XM_047424149.1:c.1057A>T, XM_047424114.1:c.1447A>T, XM_047424116.1:c.1450A>T, XM_047424117.1:c.1399A>T, XM_047424122.1:c.1360A>T, XM_047424126.1:c.1309A>T, XM_047424113.1:c.1450A>T, XM_047424115.1:c.1447A>T, XM_047424131.1:c.1237A>T, XM_047424132.1:c.1240A>T, XM_047424136.1:c.1189A>T, XM_047424142.1:c.1147A>T, XM_047424143.1:c.1150A>T, XM_047424145.1:c.1099A>T, XM_047424151.1:c.1057A>T, XM_047424133.1:c.1240A>T, XM_047424141.1:c.1147A>T, NM_001190728.1:c.1240A>T, NP_055451.1:p.Thr456Ser, XP_011517535.1:p.Thr484Ser, NP_001309250.1:p.Thr483Ser, NP_001309251.1:p.Thr483Ser, NP_001309253.1:p.Thr413Ser, NP_001309254.1:p.Thr484Ser, NP_001177658.1:p.Thr414Ser, NP_001309249.1:p.Thr414Ser, NP_001309252.1:p.Thr384Ser, XP_047280074.1:p.Thr483Ser, XP_047280079.1:p.Thr456Ser, XP_047280081.1:p.Thr454Ser, XP_047280090.1:p.Thr414Ser, XP_047280076.1:p.Thr484Ser, XP_047280080.1:p.Thr467Ser, XP_047280083.1:p.Thr454Ser, XP_047280084.1:p.Thr453Ser, XP_047280085.1:p.Thr454Ser, XP_047280086.1:p.Thr436Ser, XP_047280091.1:p.Thr423Ser, XP_047280075.1:p.Thr484Ser, XP_047280094.1:p.Thr414Ser, XP_047280077.1:p.Thr484Ser, XP_047280095.1:p.Thr414Ser, NP_001353329.1:p.Thr456Ser, XP_047280100.1:p.Thr397Ser, XP_047280102.1:p.Thr384Ser, XP_047280104.1:p.Thr383Ser, XP_047280106.1:p.Thr384Ser, XP_016870835.1:p.Thr456Ser, XP_047280108.1:p.Thr353Ser, XP_047280093.1:p.Thr414Ser, XP_047280096.1:p.Thr406Ser, NP_001353330.1:p.Thr414Ser, XP_047280109.1:p.Thr336Ser, XP_047280103.1:p.Thr384Ser, XP_047280105.1:p.Thr353Ser, XP_047280070.1:p.Thr483Ser, XP_047280072.1:p.Thr484Ser, XP_047280073.1:p.Thr467Ser, XP_047280078.1:p.Thr454Ser, XP_047280082.1:p.Thr437Ser, XP_047280069.1:p.Thr484Ser, XP_047280071.1:p.Thr483Ser, XP_047280087.1:p.Thr413Ser, XP_047280088.1:p.Thr414Ser, XP_047280092.1:p.Thr397Ser, XP_047280098.1:p.Thr383Ser, XP_047280099.1:p.Thr384Ser, XP_047280101.1:p.Thr367Ser, XP_047280107.1:p.Thr353Ser, XP_047280089.1:p.Thr414Ser, XP_047280097.1:p.Thr383Ser, NP_001177657.1:p.Thr414Ser

                                  17.

                                  rs1446874828 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:127168706 (GRCh38)
                                    9:129930985 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:127168705:A:G
                                    Gene:
                                    RALGPS1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_downstream_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_000009.12:g.127168706A>G, NC_000009.11:g.129930985A>G, NM_014636.3:c.776A>G, NM_014636.2:c.776A>G, XM_011519233.2:c.776A>G, XM_011519233.1:c.776A>G, NM_001322321.2:c.776A>G, NM_001322321.1:c.776A>G, NM_001322322.2:c.776A>G, NM_001322322.1:c.776A>G, NM_001322324.2:c.776A>G, NM_001322324.1:c.776A>G, NM_001322325.2:c.776A>G, NM_001322325.1:c.776A>G, NM_001190729.2:c.776A>G, NM_001190729.1:c.776A>G, NM_001322320.2:c.776A>G, NM_001322320.1:c.776A>G, NM_001322323.2:c.686A>G, NM_001322323.1:c.686A>G, NM_001190730.2:c.776A>G, NM_001190730.1:c.776A>G, XM_047424118.1:c.776A>G, XM_047424123.1:c.776A>G, XM_047424125.1:c.686A>G, XM_047424134.1:c.776A>G, XM_047424120.1:c.776A>G, XM_047424124.1:c.725A>G, XM_047424127.1:c.686A>G, XM_047424128.1:c.686A>G, XM_047424129.1:c.686A>G, XM_047424130.1:c.635A>G, XM_047424135.1:c.593A>G, XM_047424119.1:c.776A>G, XM_047424138.1:c.776A>G, XM_047424121.1:c.776A>G, XM_047424139.1:c.776A>G, NM_001366400.1:c.776A>G, XM_047424144.1:c.725A>G, XM_047424146.1:c.686A>G, XM_047424148.1:c.686A>G, XM_047424150.1:c.686A>G, XM_017015346.1:c.776A>G, XM_047424152.1:c.593A>G, XM_047424137.1:c.776A>G, XM_047424140.1:c.542A>G, NM_001366401.1:c.776A>G, XM_047424153.1:c.542A>G, XM_047424147.1:c.686A>G, XM_047424149.1:c.593A>G, XM_047424114.1:c.776A>G, XM_047424116.1:c.776A>G, XM_047424117.1:c.725A>G, XM_047424122.1:c.686A>G, XM_047424126.1:c.635A>G, XM_047424113.1:c.776A>G, XM_047424115.1:c.776A>G, XM_047424131.1:c.776A>G, XM_047424132.1:c.776A>G, XM_047424136.1:c.725A>G, XM_047424142.1:c.686A>G, XM_047424143.1:c.686A>G, XM_047424145.1:c.635A>G, XM_047424151.1:c.593A>G, XM_047424133.1:c.776A>G, XM_047424141.1:c.686A>G, NM_001190728.1:c.776A>G, NP_055451.1:p.Gln259Arg, XP_011517535.1:p.Gln259Arg, NP_001309250.1:p.Gln259Arg, NP_001309251.1:p.Gln259Arg, NP_001309253.1:p.Gln259Arg, NP_001309254.1:p.Gln259Arg, NP_001177658.1:p.Gln259Arg, NP_001309249.1:p.Gln259Arg, NP_001309252.1:p.Gln229Arg, NP_001177659.1:p.Gln259Arg, XP_047280074.1:p.Gln259Arg, XP_047280079.1:p.Gln259Arg, XP_047280081.1:p.Gln229Arg, XP_047280090.1:p.Gln259Arg, XP_047280076.1:p.Gln259Arg, XP_047280080.1:p.Gln242Arg, XP_047280083.1:p.Gln229Arg, XP_047280084.1:p.Gln229Arg, XP_047280085.1:p.Gln229Arg, XP_047280086.1:p.Gln212Arg, XP_047280091.1:p.Gln198Arg, XP_047280075.1:p.Gln259Arg, XP_047280094.1:p.Gln259Arg, XP_047280077.1:p.Gln259Arg, XP_047280095.1:p.Gln259Arg, NP_001353329.1:p.Gln259Arg, XP_047280100.1:p.Gln242Arg, XP_047280102.1:p.Gln229Arg, XP_047280104.1:p.Gln229Arg, XP_047280106.1:p.Gln229Arg, XP_016870835.1:p.Gln259Arg, XP_047280108.1:p.Gln198Arg, XP_047280093.1:p.Gln259Arg, XP_047280096.1:p.Gln181Arg, NP_001353330.1:p.Gln259Arg, XP_047280109.1:p.Gln181Arg, XP_047280103.1:p.Gln229Arg, XP_047280105.1:p.Gln198Arg, XP_047280070.1:p.Gln259Arg, XP_047280072.1:p.Gln259Arg, XP_047280073.1:p.Gln242Arg, XP_047280078.1:p.Gln229Arg, XP_047280082.1:p.Gln212Arg, XP_047280069.1:p.Gln259Arg, XP_047280071.1:p.Gln259Arg, XP_047280087.1:p.Gln259Arg, XP_047280088.1:p.Gln259Arg, XP_047280092.1:p.Gln242Arg, XP_047280098.1:p.Gln229Arg, XP_047280099.1:p.Gln229Arg, XP_047280101.1:p.Gln212Arg, XP_047280107.1:p.Gln198Arg, XP_047280089.1:p.Gln259Arg, XP_047280097.1:p.Gln229Arg, NP_001177657.1:p.Gln259Arg

                                    18.

                                    rs1445696310 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:127214838 (GRCh38)
                                      9:129977117 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:127214837:C:T
                                      Gene:
                                      RALGPS1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.127214838C>T, NC_000009.11:g.129977117C>T, NM_014636.3:c.1640C>T, NM_014636.2:c.1640C>T, XM_011519233.2:c.1724C>T, XM_011519233.1:c.1724C>T, NM_001322321.2:c.1721C>T, NM_001322321.1:c.1721C>T, NM_001322322.2:c.1697C>T, NM_001322322.1:c.1697C>T, NM_001322324.2:c.1511C>T, NM_001322324.1:c.1511C>T, NM_001322325.2:c.1724C>T, NM_001322325.1:c.1724C>T, NM_001190729.2:c.1514C>T, NM_001190729.1:c.1514C>T, NM_001322320.2:c.1514C>T, NM_001322320.1:c.1514C>T, NM_001322323.2:c.1424C>T, NM_001322323.1:c.1424C>T, XM_047424118.1:c.1697C>T, XM_047424123.1:c.1640C>T, XM_047424125.1:c.1610C>T, XM_047424134.1:c.1514C>T, XM_047424120.1:c.1700C>T, XM_047424124.1:c.1673C>T, XM_047424127.1:c.1634C>T, XM_047424128.1:c.1631C>T, XM_047424129.1:c.1610C>T, XM_047424130.1:c.1580C>T, XM_047424135.1:c.1541C>T, XM_047424119.1:c.1724C>T, XM_047424138.1:c.1514C>T, XM_047424121.1:c.1700C>T, XM_047424139.1:c.1490C>T, NM_001366400.1:c.1640C>T, XM_047424144.1:c.1463C>T, XM_047424146.1:c.1424C>T, XM_047424148.1:c.1421C>T, XM_047424150.1:c.1400C>T, XM_017015346.1:c.1616C>T, XM_047424152.1:c.1331C>T, XM_047424137.1:c.1514C>T, XM_047424140.1:c.1490C>T, NM_001366401.1:c.1514C>T, XM_047424153.1:c.1280C>T, XM_047424147.1:c.1424C>T, XM_047424149.1:c.1307C>T, XM_047424114.1:c.1721C>T, XM_047424116.1:c.1700C>T, XM_047424117.1:c.1673C>T, XM_047424122.1:c.1634C>T, XM_047424126.1:c.1583C>T, XM_047424113.1:c.1724C>T, XM_047424115.1:c.1721C>T, XM_047424131.1:c.1511C>T, XM_047424132.1:c.1490C>T, XM_047424136.1:c.1463C>T, XM_047424142.1:c.1421C>T, XM_047424143.1:c.1400C>T, XM_047424145.1:c.1373C>T, XM_047424151.1:c.1331C>T, XM_047424133.1:c.1490C>T, XM_047424141.1:c.1421C>T, NM_001190728.1:c.1490C>T, NP_055451.1:p.Pro547Leu, XP_011517535.1:p.Pro575Leu, NP_001309250.1:p.Pro574Leu, NP_001309251.1:p.Pro566Leu, NP_001309253.1:p.Pro504Leu, NP_001309254.1:p.Pro575Leu, NP_001177658.1:p.Pro505Leu, NP_001309249.1:p.Pro505Leu, NP_001309252.1:p.Pro475Leu, XP_047280074.1:p.Pro566Leu, XP_047280079.1:p.Pro547Leu, XP_047280081.1:p.Pro537Leu, XP_047280090.1:p.Pro505Leu, XP_047280076.1:p.Pro567Leu, XP_047280080.1:p.Pro558Leu, XP_047280083.1:p.Pro545Leu, XP_047280084.1:p.Pro544Leu, XP_047280085.1:p.Pro537Leu, XP_047280086.1:p.Pro527Leu, XP_047280091.1:p.Pro514Leu, XP_047280075.1:p.Pro575Leu, XP_047280094.1:p.Pro505Leu, XP_047280077.1:p.Pro567Leu, XP_047280095.1:p.Pro497Leu, NP_001353329.1:p.Pro547Leu, XP_047280100.1:p.Pro488Leu, XP_047280102.1:p.Pro475Leu, XP_047280104.1:p.Pro474Leu, XP_047280106.1:p.Pro467Leu, XP_016870835.1:p.Pro539Leu, XP_047280108.1:p.Pro444Leu, XP_047280093.1:p.Pro505Leu, XP_047280096.1:p.Pro497Leu, NP_001353330.1:p.Pro505Leu, XP_047280109.1:p.Pro427Leu, XP_047280103.1:p.Pro475Leu, XP_047280105.1:p.Pro436Leu, XP_047280070.1:p.Pro574Leu, XP_047280072.1:p.Pro567Leu, XP_047280073.1:p.Pro558Leu, XP_047280078.1:p.Pro545Leu, XP_047280082.1:p.Pro528Leu, XP_047280069.1:p.Pro575Leu, XP_047280071.1:p.Pro574Leu, XP_047280087.1:p.Pro504Leu, XP_047280088.1:p.Pro497Leu, XP_047280092.1:p.Pro488Leu, XP_047280098.1:p.Pro474Leu, XP_047280099.1:p.Pro467Leu, XP_047280101.1:p.Pro458Leu, XP_047280107.1:p.Pro444Leu, XP_047280089.1:p.Pro497Leu, XP_047280097.1:p.Pro474Leu, NP_001177657.1:p.Pro497Leu

                                      19.

                                      rs1444783562 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:127216924 (GRCh38)
                                        9:129979203 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:127216923:G:A
                                        Gene:
                                        RALGPS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000111/1 (ALFA)
                                        A=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.127216924G>A, NC_000009.11:g.129979203G>A, NM_001322325.2:c.1747G>A, NM_001322325.1:c.1747G>A, NM_001190729.2:c.1537G>A, NM_001190729.1:c.1537G>A, NM_001322320.2:c.1537G>A, NM_001322320.1:c.1537G>A, NM_001322323.2:c.1447G>A, NM_001322323.1:c.1447G>A, XM_047424118.1:c.*2013G>A, XM_047424123.1:c.*2013G>A, XM_047424125.1:c.*2013G>A, XM_047424134.1:c.*2013G>A, XM_047424114.1:c.1744G>A, XM_047424116.1:c.1723G>A, XM_047424117.1:c.1696G>A, XM_047424122.1:c.1657G>A, XM_047424126.1:c.1606G>A, XM_047424113.1:c.1747G>A, XM_047424115.1:c.1744G>A, XM_047424131.1:c.1534G>A, XM_047424132.1:c.1513G>A, XM_047424136.1:c.1486G>A, XM_047424142.1:c.1444G>A, XM_047424143.1:c.1423G>A, XM_047424145.1:c.1396G>A, XM_047424151.1:c.1354G>A, XM_047424133.1:c.1513G>A, XM_047424141.1:c.1444G>A, NM_001190728.1:c.1513G>A, NP_001309254.1:p.Gly583Ser, NP_001177658.1:p.Gly513Ser, NP_001309249.1:p.Gly513Ser, NP_001309252.1:p.Gly483Ser, XP_047280070.1:p.Gly582Ser, XP_047280072.1:p.Gly575Ser, XP_047280073.1:p.Gly566Ser, XP_047280078.1:p.Gly553Ser, XP_047280082.1:p.Gly536Ser, XP_047280069.1:p.Gly583Ser, XP_047280071.1:p.Gly582Ser, XP_047280087.1:p.Gly512Ser, XP_047280088.1:p.Gly505Ser, XP_047280092.1:p.Gly496Ser, XP_047280098.1:p.Gly482Ser, XP_047280099.1:p.Gly475Ser, XP_047280101.1:p.Gly466Ser, XP_047280107.1:p.Gly452Ser, XP_047280089.1:p.Gly505Ser, XP_047280097.1:p.Gly482Ser, NP_001177657.1:p.Gly505Ser

                                        20.

                                        rs1441217010 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:127166195 (GRCh38)
                                          9:129928474 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:127166194:C:T
                                          Gene:
                                          RALGPS1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000012/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.127166195C>T, NC_000009.11:g.129928474C>T, NM_014636.3:c.737C>T, NM_014636.2:c.737C>T, XM_011519233.2:c.737C>T, XM_011519233.1:c.737C>T, NM_001322321.2:c.737C>T, NM_001322321.1:c.737C>T, NM_001322322.2:c.737C>T, NM_001322322.1:c.737C>T, NM_001322324.2:c.737C>T, NM_001322324.1:c.737C>T, NM_001322325.2:c.737C>T, NM_001322325.1:c.737C>T, NM_001190729.2:c.737C>T, NM_001190729.1:c.737C>T, NM_001322320.2:c.737C>T, NM_001322320.1:c.737C>T, NM_001322323.2:c.647C>T, NM_001322323.1:c.647C>T, NM_001190730.2:c.737C>T, NM_001190730.1:c.737C>T, XM_047424118.1:c.737C>T, XM_047424123.1:c.737C>T, XM_047424125.1:c.647C>T, XM_047424134.1:c.737C>T, XM_047424120.1:c.737C>T, XM_047424124.1:c.686C>T, XM_047424127.1:c.647C>T, XM_047424128.1:c.647C>T, XM_047424129.1:c.647C>T, XM_047424130.1:c.596C>T, XM_047424135.1:c.554C>T, XM_047424119.1:c.737C>T, XM_047424138.1:c.737C>T, XM_047424121.1:c.737C>T, XM_047424139.1:c.737C>T, NM_001366400.1:c.737C>T, XM_047424144.1:c.686C>T, XM_047424146.1:c.647C>T, XM_047424148.1:c.647C>T, XM_047424150.1:c.647C>T, XM_017015346.1:c.737C>T, XM_047424152.1:c.554C>T, XM_047424137.1:c.737C>T, XM_047424140.1:c.503C>T, NM_001366401.1:c.737C>T, XM_047424153.1:c.503C>T, XM_047424147.1:c.647C>T, XM_047424149.1:c.554C>T, XM_047424114.1:c.737C>T, XM_047424116.1:c.737C>T, XM_047424117.1:c.686C>T, XM_047424122.1:c.647C>T, XM_047424126.1:c.596C>T, XM_047424113.1:c.737C>T, XM_047424115.1:c.737C>T, XM_047424131.1:c.737C>T, XM_047424132.1:c.737C>T, XM_047424136.1:c.686C>T, XM_047424142.1:c.647C>T, XM_047424143.1:c.647C>T, XM_047424145.1:c.596C>T, XM_047424151.1:c.554C>T, XM_047424133.1:c.737C>T, XM_047424141.1:c.647C>T, NM_001190728.1:c.737C>T, NP_055451.1:p.Ser246Phe, XP_011517535.1:p.Ser246Phe, NP_001309250.1:p.Ser246Phe, NP_001309251.1:p.Ser246Phe, NP_001309253.1:p.Ser246Phe, NP_001309254.1:p.Ser246Phe, NP_001177658.1:p.Ser246Phe, NP_001309249.1:p.Ser246Phe, NP_001309252.1:p.Ser216Phe, NP_001177659.1:p.Ser246Phe, XP_047280074.1:p.Ser246Phe, XP_047280079.1:p.Ser246Phe, XP_047280081.1:p.Ser216Phe, XP_047280090.1:p.Ser246Phe, XP_047280076.1:p.Ser246Phe, XP_047280080.1:p.Ser229Phe, XP_047280083.1:p.Ser216Phe, XP_047280084.1:p.Ser216Phe, XP_047280085.1:p.Ser216Phe, XP_047280086.1:p.Ser199Phe, XP_047280091.1:p.Ser185Phe, XP_047280075.1:p.Ser246Phe, XP_047280094.1:p.Ser246Phe, XP_047280077.1:p.Ser246Phe, XP_047280095.1:p.Ser246Phe, NP_001353329.1:p.Ser246Phe, XP_047280100.1:p.Ser229Phe, XP_047280102.1:p.Ser216Phe, XP_047280104.1:p.Ser216Phe, XP_047280106.1:p.Ser216Phe, XP_016870835.1:p.Ser246Phe, XP_047280108.1:p.Ser185Phe, XP_047280093.1:p.Ser246Phe, XP_047280096.1:p.Ser168Phe, NP_001353330.1:p.Ser246Phe, XP_047280109.1:p.Ser168Phe, XP_047280103.1:p.Ser216Phe, XP_047280105.1:p.Ser185Phe, XP_047280070.1:p.Ser246Phe, XP_047280072.1:p.Ser246Phe, XP_047280073.1:p.Ser229Phe, XP_047280078.1:p.Ser216Phe, XP_047280082.1:p.Ser199Phe, XP_047280069.1:p.Ser246Phe, XP_047280071.1:p.Ser246Phe, XP_047280087.1:p.Ser246Phe, XP_047280088.1:p.Ser246Phe, XP_047280092.1:p.Ser229Phe, XP_047280098.1:p.Ser216Phe, XP_047280099.1:p.Ser216Phe, XP_047280101.1:p.Ser199Phe, XP_047280107.1:p.Ser185Phe, XP_047280089.1:p.Ser246Phe, XP_047280097.1:p.Ser216Phe, NP_001177657.1:p.Ser246Phe

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