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Items: 1 to 20 of 1000

1.

rs1489868680 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    20:38517543 (GRCh38)
    20:37146186 (GRCh37)
    Canonical SPDI:
    NC_000020.11:38517542:A:C
    Gene:
    RALGAPB (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1489433013 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      20:38541052 (GRCh38)
      20:37169695 (GRCh37)
      Canonical SPDI:
      NC_000020.11:38541051:G:A,NC_000020.11:38541051:G:C
      Gene:
      RALGAPB (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.38541052G>A, NC_000020.11:g.38541052G>C, NC_000020.10:g.37169695G>A, NC_000020.10:g.37169695G>C, NM_020336.4:c.2574G>A, NM_020336.4:c.2574G>C, NM_020336.3:c.2574G>A, NM_020336.3:c.2574G>C, NM_020336.2:c.2574G>A, NM_020336.2:c.2574G>C, XM_005260462.4:c.2610G>A, XM_005260462.4:c.2610G>C, XM_005260462.3:c.2610G>A, XM_005260462.3:c.2610G>C, XM_005260462.2:c.2610G>A, XM_005260462.2:c.2610G>C, XM_005260462.1:c.2610G>A, XM_005260462.1:c.2610G>C, XM_005260465.4:c.2574G>A, XM_005260465.4:c.2574G>C, XM_005260465.3:c.2574G>A, XM_005260465.3:c.2574G>C, XM_005260465.2:c.2574G>A, XM_005260465.2:c.2574G>C, XM_005260465.1:c.2574G>A, XM_005260465.1:c.2574G>C, XM_017027970.3:c.240G>A, XM_017027970.3:c.240G>C, XM_017027970.2:c.240G>A, XM_017027970.2:c.240G>C, XM_017027970.1:c.240G>A, XM_017027970.1:c.240G>C, XM_017027966.3:c.2598G>A, XM_017027966.3:c.2598G>C, XM_017027966.2:c.2598G>A, XM_017027966.2:c.2598G>C, XM_017027966.1:c.2598G>A, XM_017027966.1:c.2598G>C, XM_017027967.3:c.2562G>A, XM_017027967.3:c.2562G>C, XM_017027967.2:c.2562G>A, XM_017027967.2:c.2562G>C, XM_017027967.1:c.2562G>A, XM_017027967.1:c.2562G>C, XM_017027968.3:c.2256G>A, XM_017027968.3:c.2256G>C, XM_017027968.2:c.2256G>A, XM_017027968.2:c.2256G>C, XM_017027968.1:c.2256G>A, XM_017027968.1:c.2256G>C, NM_001282918.2:c.2562G>A, NM_001282918.2:c.2562G>C, NM_001282918.1:c.2562G>A, NM_001282918.1:c.2562G>C, NM_001282917.2:c.2574G>A, NM_001282917.2:c.2574G>C, NM_001282917.1:c.2574G>A, NM_001282917.1:c.2574G>C, XM_047440317.1:c.240G>A, XM_047440317.1:c.240G>C, XM_047440314.1:c.2610G>A, XM_047440314.1:c.2610G>C, XM_047440315.1:c.2598G>A, XM_047440315.1:c.2598G>C, XM_047440316.1:c.2610G>A, XM_047440316.1:c.2610G>C, NP_065069.1:p.Lys858Asn, XP_005260519.1:p.Lys870Asn, XP_005260522.1:p.Lys858Asn, XP_016883459.1:p.Lys80Asn, XP_016883455.1:p.Lys866Asn, XP_016883456.1:p.Lys854Asn, XP_016883457.1:p.Lys752Asn, NP_001269847.1:p.Lys854Asn, NP_001269846.1:p.Lys858Asn, XP_047296273.1:p.Lys80Asn, XP_047296270.1:p.Lys870Asn, XP_047296271.1:p.Lys866Asn, XP_047296272.1:p.Lys870Asn

      3.

      rs1489303886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:38497504 (GRCh38)
        20:37126147 (GRCh37)
        Canonical SPDI:
        NC_000020.11:38497503:C:T
        Gene:
        RALGAPB (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000020.11:g.38497504C>T, NC_000020.10:g.37126147C>T, NM_020336.4:c.541C>T, NM_020336.3:c.541C>T, NM_020336.2:c.541C>T, XM_005260462.4:c.541C>T, XM_005260462.3:c.541C>T, XM_005260462.2:c.541C>T, XM_005260462.1:c.541C>T, XM_005260465.4:c.541C>T, XM_005260465.3:c.541C>T, XM_005260465.2:c.541C>T, XM_005260465.1:c.541C>T, XM_017027966.3:c.541C>T, XM_017027966.2:c.541C>T, XM_017027966.1:c.541C>T, XM_017027967.3:c.541C>T, XM_017027967.2:c.541C>T, XM_017027967.1:c.541C>T, XM_017027968.3:c.187C>T, XM_017027968.2:c.187C>T, XM_017027968.1:c.187C>T, NM_001282918.2:c.541C>T, NM_001282918.1:c.541C>T, NM_001282917.2:c.541C>T, NM_001282917.1:c.541C>T, XM_047440314.1:c.541C>T, XM_047440315.1:c.541C>T, XM_047440316.1:c.541C>T, NP_065069.1:p.Pro181Ser, XP_005260519.1:p.Pro181Ser, XP_005260522.1:p.Pro181Ser, XP_016883455.1:p.Pro181Ser, XP_016883456.1:p.Pro181Ser, XP_016883457.1:p.Pro63Ser, NP_001269847.1:p.Pro181Ser, NP_001269846.1:p.Pro181Ser, XP_047296270.1:p.Pro181Ser, XP_047296271.1:p.Pro181Ser, XP_047296272.1:p.Pro181Ser

        4.

        rs1488638422 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          20:38525959 (GRCh38)
          20:37154602 (GRCh37)
          Canonical SPDI:
          NC_000020.11:38525958:T:C
          Gene:
          RALGAPB (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.38525959T>C, NC_000020.10:g.37154602T>C, NM_020336.4:c.1967T>C, NM_020336.3:c.1967T>C, NM_020336.2:c.1967T>C, XM_005260462.4:c.2003T>C, XM_005260462.3:c.2003T>C, XM_005260462.2:c.2003T>C, XM_005260462.1:c.2003T>C, XM_005260465.4:c.1967T>C, XM_005260465.3:c.1967T>C, XM_005260465.2:c.1967T>C, XM_005260465.1:c.1967T>C, XM_017027966.3:c.2003T>C, XM_017027966.2:c.2003T>C, XM_017027966.1:c.2003T>C, XM_017027967.3:c.1967T>C, XM_017027967.2:c.1967T>C, XM_017027967.1:c.1967T>C, XM_017027968.3:c.1649T>C, XM_017027968.2:c.1649T>C, XM_017027968.1:c.1649T>C, NM_001282918.2:c.1967T>C, NM_001282918.1:c.1967T>C, NM_001282917.2:c.1967T>C, NM_001282917.1:c.1967T>C, XM_047440314.1:c.2003T>C, XM_047440315.1:c.2003T>C, XM_047440316.1:c.2003T>C, NP_065069.1:p.Leu656Pro, XP_005260519.1:p.Leu668Pro, XP_005260522.1:p.Leu656Pro, XP_016883455.1:p.Leu668Pro, XP_016883456.1:p.Leu656Pro, XP_016883457.1:p.Leu550Pro, NP_001269847.1:p.Leu656Pro, NP_001269846.1:p.Leu656Pro, XP_047296270.1:p.Leu668Pro, XP_047296271.1:p.Leu668Pro, XP_047296272.1:p.Leu668Pro

          5.

          rs1488017770 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:38551112 (GRCh38)
            20:37179755 (GRCh37)
            Canonical SPDI:
            NC_000020.11:38551111:T:C
            Gene:
            RALGAPB (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000020.11:g.38551112T>C, NC_000020.10:g.37179755T>C, NM_020336.4:c.3051T>C, NM_020336.3:c.3051T>C, NM_020336.2:c.3051T>C, XM_005260462.4:c.3087T>C, XM_005260462.3:c.3087T>C, XM_005260462.2:c.3087T>C, XM_005260462.1:c.3087T>C, XM_005260465.4:c.3051T>C, XM_005260465.3:c.3051T>C, XM_005260465.2:c.3051T>C, XM_005260465.1:c.3051T>C, XM_017027970.3:c.717T>C, XM_017027970.2:c.717T>C, XM_017027970.1:c.717T>C, XM_017027966.3:c.3075T>C, XM_017027966.2:c.3075T>C, XM_017027966.1:c.3075T>C, XM_017027967.3:c.3039T>C, XM_017027967.2:c.3039T>C, XM_017027967.1:c.3039T>C, XM_017027968.3:c.2733T>C, XM_017027968.2:c.2733T>C, XM_017027968.1:c.2733T>C, NM_001282918.2:c.3039T>C, NM_001282918.1:c.3039T>C, NM_001282917.2:c.3051T>C, NM_001282917.1:c.3051T>C, XM_047440317.1:c.717T>C, XM_047440314.1:c.3087T>C, XM_047440315.1:c.3075T>C, XM_047440316.1:c.3087T>C

            6.

            rs1487724894 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              20:38541065 (GRCh38)
              20:37169708 (GRCh37)
              Canonical SPDI:
              NC_000020.11:38541064:A:G
              Gene:
              RALGAPB (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.38541065A>G, NC_000020.10:g.37169708A>G, NM_020336.4:c.2587A>G, NM_020336.3:c.2587A>G, NM_020336.2:c.2587A>G, XM_005260462.4:c.2623A>G, XM_005260462.3:c.2623A>G, XM_005260462.2:c.2623A>G, XM_005260462.1:c.2623A>G, XM_005260465.4:c.2587A>G, XM_005260465.3:c.2587A>G, XM_005260465.2:c.2587A>G, XM_005260465.1:c.2587A>G, XM_017027970.3:c.253A>G, XM_017027970.2:c.253A>G, XM_017027970.1:c.253A>G, XM_017027966.3:c.2611A>G, XM_017027966.2:c.2611A>G, XM_017027966.1:c.2611A>G, XM_017027967.3:c.2575A>G, XM_017027967.2:c.2575A>G, XM_017027967.1:c.2575A>G, XM_017027968.3:c.2269A>G, XM_017027968.2:c.2269A>G, XM_017027968.1:c.2269A>G, NM_001282918.2:c.2575A>G, NM_001282918.1:c.2575A>G, NM_001282917.2:c.2587A>G, NM_001282917.1:c.2587A>G, XM_047440317.1:c.253A>G, XM_047440314.1:c.2623A>G, XM_047440315.1:c.2611A>G, XM_047440316.1:c.2623A>G, NP_065069.1:p.Ile863Val, XP_005260519.1:p.Ile875Val, XP_005260522.1:p.Ile863Val, XP_016883459.1:p.Ile85Val, XP_016883455.1:p.Ile871Val, XP_016883456.1:p.Ile859Val, XP_016883457.1:p.Ile757Val, NP_001269847.1:p.Ile859Val, NP_001269846.1:p.Ile863Val, XP_047296273.1:p.Ile85Val, XP_047296270.1:p.Ile875Val, XP_047296271.1:p.Ile871Val, XP_047296272.1:p.Ile875Val

              7.

              rs1487169205 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                20:38565371 (GRCh38)
                20:37194014 (GRCh37)
                Canonical SPDI:
                NC_000020.11:38565370:C:T
                Gene:
                RALGAPB (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.38565371C>T, NC_000020.10:g.37194014C>T, NM_020336.4:c.3710C>T, NM_020336.3:c.3710C>T, NM_020336.2:c.3710C>T, XM_005260462.4:c.3749C>T, XM_005260462.3:c.3749C>T, XM_005260462.2:c.3749C>T, XM_005260462.1:c.3749C>T, XM_005260465.4:c.3713C>T, XM_005260465.3:c.3713C>T, XM_005260465.2:c.3713C>T, XM_005260465.1:c.3713C>T, XM_017027970.3:c.1379C>T, XM_017027970.2:c.1379C>T, XM_017027970.1:c.1379C>T, XM_017027966.3:c.3734C>T, XM_017027966.2:c.3734C>T, XM_017027966.1:c.3734C>T, XM_017027967.3:c.3698C>T, XM_017027967.2:c.3698C>T, XM_017027967.1:c.3698C>T, XM_017027968.3:c.3395C>T, XM_017027968.2:c.3395C>T, XM_017027968.1:c.3395C>T, NM_001282918.2:c.3701C>T, NM_001282918.1:c.3701C>T, NM_001282917.2:c.3710C>T, NM_001282917.1:c.3710C>T, XM_047440317.1:c.1376C>T, XM_047440314.1:c.3746C>T, XM_047440315.1:c.3737C>T, XM_047440316.1:c.3749C>T, NP_065069.1:p.Ser1237Phe, XP_005260519.1:p.Ser1250Phe, XP_005260522.1:p.Ser1238Phe, XP_016883459.1:p.Ser460Phe, XP_016883455.1:p.Ser1245Phe, XP_016883456.1:p.Ser1233Phe, XP_016883457.1:p.Ser1132Phe, NP_001269847.1:p.Ser1234Phe, NP_001269846.1:p.Ser1237Phe, XP_047296273.1:p.Ser459Phe, XP_047296270.1:p.Ser1249Phe, XP_047296271.1:p.Ser1246Phe, XP_047296272.1:p.Ser1250Phe

                8.

                rs1485533658 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AATT>- [Show Flanks]
                  Chromosome:
                  20:38562664 (GRCh38)
                  20:37191307 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:38562660:ATTAATT:ATT
                  Gene:
                  RALGAPB (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.38562664_38562667del, NC_000020.10:g.37191307_37191310del, NM_020336.4:c.3664_3667del, NM_020336.3:c.3664_3667del, NM_020336.2:c.3664_3667del, XM_005260462.4:c.3700_3703del, XM_005260462.3:c.3700_3703del, XM_005260462.2:c.3700_3703del, XM_005260462.1:c.3700_3703del, XM_005260465.4:c.3664_3667del, XM_005260465.3:c.3664_3667del, XM_005260465.2:c.3664_3667del, XM_005260465.1:c.3664_3667del, XM_017027970.3:c.1330_1333del, XM_017027970.2:c.1330_1333del, XM_017027970.1:c.1330_1333del, XM_017027966.3:c.3688_3691del, XM_017027966.2:c.3688_3691del, XM_017027966.1:c.3688_3691del, XM_017027967.3:c.3652_3655del, XM_017027967.2:c.3652_3655del, XM_017027967.1:c.3652_3655del, XM_017027968.3:c.3346_3349del, XM_017027968.2:c.3346_3349del, XM_017027968.1:c.3346_3349del, NM_001282918.2:c.3652_3655del, NM_001282918.1:c.3652_3655del, NM_001282917.2:c.3664_3667del, NM_001282917.1:c.3664_3667del, XM_047440317.1:c.1330_1333del, XM_047440314.1:c.3700_3703del, XM_047440315.1:c.3688_3691del, XM_047440316.1:c.3700_3703del, NP_065069.1:p.Asn1222fs, XP_005260519.1:p.Asn1234fs, XP_005260522.1:p.Asn1222fs, XP_016883459.1:p.Asn444fs, XP_016883455.1:p.Asn1230fs, XP_016883456.1:p.Asn1218fs, XP_016883457.1:p.Asn1116fs, NP_001269847.1:p.Asn1218fs, NP_001269846.1:p.Asn1222fs, XP_047296273.1:p.Asn444fs, XP_047296270.1:p.Asn1234fs, XP_047296271.1:p.Asn1230fs, XP_047296272.1:p.Asn1234fs

                  9.

                  rs1485320012 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    20:38493044 (GRCh38)
                    20:37121687 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:38493043:A:G
                    Gene:
                    RALGAPB (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000020.11:g.38493044A>G, NC_000020.10:g.37121687A>G, NM_020336.4:c.301A>G, NM_020336.3:c.301A>G, NM_020336.2:c.301A>G, XM_005260462.4:c.301A>G, XM_005260462.3:c.301A>G, XM_005260462.2:c.301A>G, XM_005260462.1:c.301A>G, XM_005260465.4:c.301A>G, XM_005260465.3:c.301A>G, XM_005260465.2:c.301A>G, XM_005260465.1:c.301A>G, XM_017027966.3:c.301A>G, XM_017027966.2:c.301A>G, XM_017027966.1:c.301A>G, XM_017027967.3:c.301A>G, XM_017027967.2:c.301A>G, XM_017027967.1:c.301A>G, NM_001282918.2:c.301A>G, NM_001282918.1:c.301A>G, NM_001282917.2:c.301A>G, NM_001282917.1:c.301A>G, XM_047440314.1:c.301A>G, XM_047440315.1:c.301A>G, XM_047440316.1:c.301A>G, NP_065069.1:p.Lys101Glu, XP_005260519.1:p.Lys101Glu, XP_005260522.1:p.Lys101Glu, XP_016883455.1:p.Lys101Glu, XP_016883456.1:p.Lys101Glu, NP_001269847.1:p.Lys101Glu, NP_001269846.1:p.Lys101Glu, XP_047296270.1:p.Lys101Glu, XP_047296271.1:p.Lys101Glu, XP_047296272.1:p.Lys101Glu

                    10.

                    rs1484593176 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      20:38548752 (GRCh38)
                      20:37177395 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:38548751:A:G
                      Gene:
                      RALGAPB (Varview)
                      Functional Consequence:
                      coding_sequence_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_000020.11:g.38548752A>G, NC_000020.10:g.37177395A>G, NM_020336.4:c.2966A>G, NM_020336.3:c.2966A>G, NM_020336.2:c.2966A>G, XM_005260462.4:c.3002A>G, XM_005260462.3:c.3002A>G, XM_005260462.2:c.3002A>G, XM_005260462.1:c.3002A>G, XM_005260465.4:c.2966A>G, XM_005260465.3:c.2966A>G, XM_005260465.2:c.2966A>G, XM_005260465.1:c.2966A>G, XM_017027970.3:c.632A>G, XM_017027970.2:c.632A>G, XM_017027970.1:c.632A>G, XM_017027966.3:c.2990A>G, XM_017027966.2:c.2990A>G, XM_017027966.1:c.2990A>G, XM_017027967.3:c.2954A>G, XM_017027967.2:c.2954A>G, XM_017027967.1:c.2954A>G, XM_017027968.3:c.2648A>G, XM_017027968.2:c.2648A>G, XM_017027968.1:c.2648A>G, NM_001282918.2:c.2954A>G, NM_001282918.1:c.2954A>G, NM_001282917.2:c.2966A>G, NM_001282917.1:c.2966A>G, XM_047440317.1:c.632A>G, XM_047440314.1:c.3002A>G, XM_047440315.1:c.2990A>G, XM_047440316.1:c.3002A>G, NP_065069.1:p.Gln989Arg, XP_005260519.1:p.Gln1001Arg, XP_005260522.1:p.Gln989Arg, XP_016883459.1:p.Gln211Arg, XP_016883455.1:p.Gln997Arg, XP_016883456.1:p.Gln985Arg, XP_016883457.1:p.Gln883Arg, NP_001269847.1:p.Gln985Arg, NP_001269846.1:p.Gln989Arg, XP_047296273.1:p.Gln211Arg, XP_047296270.1:p.Gln1001Arg, XP_047296271.1:p.Gln997Arg, XP_047296272.1:p.Gln1001Arg

                      11.

                      rs1484306613 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        20:38493119 (GRCh38)
                        20:37121762 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:38493118:C:A,NC_000020.11:38493118:C:G
                        Gene:
                        RALGAPB (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000051/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000020.11:g.38493119C>A, NC_000020.11:g.38493119C>G, NC_000020.10:g.37121762C>A, NC_000020.10:g.37121762C>G, NM_020336.4:c.376C>A, NM_020336.4:c.376C>G, NM_020336.3:c.376C>A, NM_020336.3:c.376C>G, NM_020336.2:c.376C>A, NM_020336.2:c.376C>G, XM_005260462.4:c.376C>A, XM_005260462.4:c.376C>G, XM_005260462.3:c.376C>A, XM_005260462.3:c.376C>G, XM_005260462.2:c.376C>A, XM_005260462.2:c.376C>G, XM_005260462.1:c.376C>A, XM_005260462.1:c.376C>G, XM_005260465.4:c.376C>A, XM_005260465.4:c.376C>G, XM_005260465.3:c.376C>A, XM_005260465.3:c.376C>G, XM_005260465.2:c.376C>A, XM_005260465.2:c.376C>G, XM_005260465.1:c.376C>A, XM_005260465.1:c.376C>G, XM_017027966.3:c.376C>A, XM_017027966.3:c.376C>G, XM_017027966.2:c.376C>A, XM_017027966.2:c.376C>G, XM_017027966.1:c.376C>A, XM_017027966.1:c.376C>G, XM_017027967.3:c.376C>A, XM_017027967.3:c.376C>G, XM_017027967.2:c.376C>A, XM_017027967.2:c.376C>G, XM_017027967.1:c.376C>A, XM_017027967.1:c.376C>G, XM_017027968.3:c.-56C>A, XM_017027968.3:c.-56C>G, XM_017027968.2:c.-56C>A, XM_017027968.2:c.-56C>G, XM_017027968.1:c.-56C>A, XM_017027968.1:c.-56C>G, NM_001282918.2:c.376C>A, NM_001282918.2:c.376C>G, NM_001282918.1:c.376C>A, NM_001282918.1:c.376C>G, NM_001282917.2:c.376C>A, NM_001282917.2:c.376C>G, NM_001282917.1:c.376C>A, NM_001282917.1:c.376C>G, XM_047440314.1:c.376C>A, XM_047440314.1:c.376C>G, XM_047440315.1:c.376C>A, XM_047440315.1:c.376C>G, XM_047440316.1:c.376C>A, XM_047440316.1:c.376C>G, NP_065069.1:p.Leu126Ile, NP_065069.1:p.Leu126Val, XP_005260519.1:p.Leu126Ile, XP_005260519.1:p.Leu126Val, XP_005260522.1:p.Leu126Ile, XP_005260522.1:p.Leu126Val, XP_016883455.1:p.Leu126Ile, XP_016883455.1:p.Leu126Val, XP_016883456.1:p.Leu126Ile, XP_016883456.1:p.Leu126Val, NP_001269847.1:p.Leu126Ile, NP_001269847.1:p.Leu126Val, NP_001269846.1:p.Leu126Ile, NP_001269846.1:p.Leu126Val, XP_047296270.1:p.Leu126Ile, XP_047296270.1:p.Leu126Val, XP_047296271.1:p.Leu126Ile, XP_047296271.1:p.Leu126Val, XP_047296272.1:p.Leu126Ile, XP_047296272.1:p.Leu126Val

                        12.

                        rs1482756633 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          20:38570805 (GRCh38)
                          20:37199448 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:38570804:G:C
                          Gene:
                          RALGAPB (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000020.11:g.38570805G>C, NC_000020.10:g.37199448G>C, NM_020336.4:c.4100G>C, NM_020336.3:c.4100G>C, NM_020336.2:c.4100G>C, XM_005260462.4:c.4139G>C, XM_005260462.3:c.4139G>C, XM_005260462.2:c.4139G>C, XM_005260462.1:c.4139G>C, XM_005260465.4:c.4103G>C, XM_005260465.3:c.4103G>C, XM_005260465.2:c.4103G>C, XM_005260465.1:c.4103G>C, XM_017027970.3:c.1769G>C, XM_017027970.2:c.1769G>C, XM_017027970.1:c.1769G>C, XM_017027966.3:c.4124G>C, XM_017027966.2:c.4124G>C, XM_017027966.1:c.4124G>C, XM_017027967.3:c.4088G>C, XM_017027967.2:c.4088G>C, XM_017027967.1:c.4088G>C, XM_017027968.3:c.3785G>C, XM_017027968.2:c.3785G>C, XM_017027968.1:c.3785G>C, NM_001282918.2:c.4091G>C, NM_001282918.1:c.4091G>C, NM_001282917.2:c.4100G>C, NM_001282917.1:c.4100G>C, XM_047440317.1:c.1766G>C, XM_047440314.1:c.4136G>C, XM_047440315.1:c.4127G>C, NP_065069.1:p.Ser1367Thr, XP_005260519.1:p.Ser1380Thr, XP_005260522.1:p.Ser1368Thr, XP_016883459.1:p.Ser590Thr, XP_016883455.1:p.Ser1375Thr, XP_016883456.1:p.Ser1363Thr, XP_016883457.1:p.Ser1262Thr, NP_001269847.1:p.Ser1364Thr, NP_001269846.1:p.Ser1367Thr, XP_047296273.1:p.Ser589Thr, XP_047296270.1:p.Ser1379Thr, XP_047296271.1:p.Ser1376Thr

                          13.

                          rs1482223280 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            20:38516207 (GRCh38)
                            20:37144850 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:38516206:G:A
                            Gene:
                            RALGAPB (Varview), MIR548O2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1481722378 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:38546285 (GRCh38)
                              20:37174928 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:38546284:T:C
                              Gene:
                              RALGAPB (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000008/2 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000020.11:g.38546285T>C, NC_000020.10:g.37174928T>C, NM_020336.4:c.2757T>C, NM_020336.3:c.2757T>C, NM_020336.2:c.2757T>C, XM_005260462.4:c.2793T>C, XM_005260462.3:c.2793T>C, XM_005260462.2:c.2793T>C, XM_005260462.1:c.2793T>C, XM_005260465.4:c.2757T>C, XM_005260465.3:c.2757T>C, XM_005260465.2:c.2757T>C, XM_005260465.1:c.2757T>C, XM_017027970.3:c.423T>C, XM_017027970.2:c.423T>C, XM_017027970.1:c.423T>C, XM_017027966.3:c.2781T>C, XM_017027966.2:c.2781T>C, XM_017027966.1:c.2781T>C, XM_017027967.3:c.2745T>C, XM_017027967.2:c.2745T>C, XM_017027967.1:c.2745T>C, XM_017027968.3:c.2439T>C, XM_017027968.2:c.2439T>C, XM_017027968.1:c.2439T>C, NM_001282918.2:c.2745T>C, NM_001282918.1:c.2745T>C, NM_001282917.2:c.2757T>C, NM_001282917.1:c.2757T>C, XM_047440317.1:c.423T>C, XM_047440314.1:c.2793T>C, XM_047440315.1:c.2781T>C, XM_047440316.1:c.2793T>C

                              15.

                              rs1479699566 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:38562643 (GRCh38)
                                20:37191286 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:38562642:G:A
                                Gene:
                                RALGAPB (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.38562643G>A, NC_000020.10:g.37191286G>A, NM_020336.4:c.3643G>A, NM_020336.3:c.3643G>A, NM_020336.2:c.3643G>A, XM_005260462.4:c.3679G>A, XM_005260462.3:c.3679G>A, XM_005260462.2:c.3679G>A, XM_005260462.1:c.3679G>A, XM_005260465.4:c.3643G>A, XM_005260465.3:c.3643G>A, XM_005260465.2:c.3643G>A, XM_005260465.1:c.3643G>A, XM_017027970.3:c.1309G>A, XM_017027970.2:c.1309G>A, XM_017027970.1:c.1309G>A, XM_017027966.3:c.3667G>A, XM_017027966.2:c.3667G>A, XM_017027966.1:c.3667G>A, XM_017027967.3:c.3631G>A, XM_017027967.2:c.3631G>A, XM_017027967.1:c.3631G>A, XM_017027968.3:c.3325G>A, XM_017027968.2:c.3325G>A, XM_017027968.1:c.3325G>A, NM_001282918.2:c.3631G>A, NM_001282918.1:c.3631G>A, NM_001282917.2:c.3643G>A, NM_001282917.1:c.3643G>A, XM_047440317.1:c.1309G>A, XM_047440314.1:c.3679G>A, XM_047440315.1:c.3667G>A, XM_047440316.1:c.3679G>A, NP_065069.1:p.Val1215Ile, XP_005260519.1:p.Val1227Ile, XP_005260522.1:p.Val1215Ile, XP_016883459.1:p.Val437Ile, XP_016883455.1:p.Val1223Ile, XP_016883456.1:p.Val1211Ile, XP_016883457.1:p.Val1109Ile, NP_001269847.1:p.Val1211Ile, NP_001269846.1:p.Val1215Ile, XP_047296273.1:p.Val437Ile, XP_047296270.1:p.Val1227Ile, XP_047296271.1:p.Val1223Ile, XP_047296272.1:p.Val1227Ile

                                16.

                                rs1479347876 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:38539783 (GRCh38)
                                  20:37168426 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:38539782:T:C
                                  Gene:
                                  RALGAPB (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000020.11:g.38539783T>C, NC_000020.10:g.37168426T>C, NM_020336.4:c.2387T>C, NM_020336.3:c.2387T>C, NM_020336.2:c.2387T>C, XM_005260462.4:c.2423T>C, XM_005260462.3:c.2423T>C, XM_005260462.2:c.2423T>C, XM_005260462.1:c.2423T>C, XM_005260465.4:c.2387T>C, XM_005260465.3:c.2387T>C, XM_005260465.2:c.2387T>C, XM_005260465.1:c.2387T>C, XM_017027970.3:c.53T>C, XM_017027970.2:c.53T>C, XM_017027970.1:c.53T>C, XM_017027966.3:c.2411T>C, XM_017027966.2:c.2411T>C, XM_017027966.1:c.2411T>C, XM_017027967.3:c.2375T>C, XM_017027967.2:c.2375T>C, XM_017027967.1:c.2375T>C, XM_017027968.3:c.2069T>C, XM_017027968.2:c.2069T>C, XM_017027968.1:c.2069T>C, NM_001282918.2:c.2375T>C, NM_001282918.1:c.2375T>C, NM_001282917.2:c.2387T>C, NM_001282917.1:c.2387T>C, XM_047440317.1:c.53T>C, XM_047440314.1:c.2423T>C, XM_047440315.1:c.2411T>C, XM_047440316.1:c.2423T>C, NP_065069.1:p.Val796Ala, XP_005260519.1:p.Val808Ala, XP_005260522.1:p.Val796Ala, XP_016883459.1:p.Val18Ala, XP_016883455.1:p.Val804Ala, XP_016883456.1:p.Val792Ala, XP_016883457.1:p.Val690Ala, NP_001269847.1:p.Val792Ala, NP_001269846.1:p.Val796Ala, XP_047296273.1:p.Val18Ala, XP_047296270.1:p.Val808Ala, XP_047296271.1:p.Val804Ala, XP_047296272.1:p.Val808Ala

                                  17.

                                  rs1477683485 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:38546317 (GRCh38)
                                    20:37174960 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:38546316:C:T
                                    Gene:
                                    RALGAPB (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_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_000020.11:g.38546317C>T, NC_000020.10:g.37174960C>T, NM_020336.4:c.2789C>T, NM_020336.3:c.2789C>T, NM_020336.2:c.2789C>T, XM_005260462.4:c.2825C>T, XM_005260462.3:c.2825C>T, XM_005260462.2:c.2825C>T, XM_005260462.1:c.2825C>T, XM_005260465.4:c.2789C>T, XM_005260465.3:c.2789C>T, XM_005260465.2:c.2789C>T, XM_005260465.1:c.2789C>T, XM_017027970.3:c.455C>T, XM_017027970.2:c.455C>T, XM_017027970.1:c.455C>T, XM_017027966.3:c.2813C>T, XM_017027966.2:c.2813C>T, XM_017027966.1:c.2813C>T, XM_017027967.3:c.2777C>T, XM_017027967.2:c.2777C>T, XM_017027967.1:c.2777C>T, XM_017027968.3:c.2471C>T, XM_017027968.2:c.2471C>T, XM_017027968.1:c.2471C>T, NM_001282918.2:c.2777C>T, NM_001282918.1:c.2777C>T, NM_001282917.2:c.2789C>T, NM_001282917.1:c.2789C>T, XM_047440317.1:c.455C>T, XM_047440314.1:c.2825C>T, XM_047440315.1:c.2813C>T, XM_047440316.1:c.2825C>T, NP_065069.1:p.Thr930Ile, XP_005260519.1:p.Thr942Ile, XP_005260522.1:p.Thr930Ile, XP_016883459.1:p.Thr152Ile, XP_016883455.1:p.Thr938Ile, XP_016883456.1:p.Thr926Ile, XP_016883457.1:p.Thr824Ile, NP_001269847.1:p.Thr926Ile, NP_001269846.1:p.Thr930Ile, XP_047296273.1:p.Thr152Ile, XP_047296270.1:p.Thr942Ile, XP_047296271.1:p.Thr938Ile, XP_047296272.1:p.Thr942Ile

                                    18.

                                    rs1476675783 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      20:38535088 (GRCh38)
                                      20:37163731 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:38535087:T:G
                                      Gene:
                                      RALGAPB (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.38535088T>G, NC_000020.10:g.37163731T>G, NM_020336.4:c.2260T>G, NM_020336.3:c.2260T>G, NM_020336.2:c.2260T>G, XM_005260462.4:c.2296T>G, XM_005260462.3:c.2296T>G, XM_005260462.2:c.2296T>G, XM_005260462.1:c.2296T>G, XM_005260465.4:c.2260T>G, XM_005260465.3:c.2260T>G, XM_005260465.2:c.2260T>G, XM_005260465.1:c.2260T>G, XM_017027966.3:c.2284T>G, XM_017027966.2:c.2284T>G, XM_017027966.1:c.2284T>G, XM_017027967.3:c.2248T>G, XM_017027967.2:c.2248T>G, XM_017027967.1:c.2248T>G, XM_017027968.3:c.1942T>G, XM_017027968.2:c.1942T>G, XM_017027968.1:c.1942T>G, NM_001282918.2:c.2248T>G, NM_001282918.1:c.2248T>G, NM_001282917.2:c.2260T>G, NM_001282917.1:c.2260T>G, XM_047440314.1:c.2296T>G, XM_047440315.1:c.2284T>G, XM_047440316.1:c.2296T>G, NP_065069.1:p.Ser754Ala, XP_005260519.1:p.Ser766Ala, XP_005260522.1:p.Ser754Ala, XP_016883455.1:p.Ser762Ala, XP_016883456.1:p.Ser750Ala, XP_016883457.1:p.Ser648Ala, NP_001269847.1:p.Ser750Ala, NP_001269846.1:p.Ser754Ala, XP_047296270.1:p.Ser766Ala, XP_047296271.1:p.Ser762Ala, XP_047296272.1:p.Ser766Ala

                                      19.

                                      rs1476517459 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        20:38532821 (GRCh38)
                                        20:37161464 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:38532820:A:T
                                        Gene:
                                        RALGAPB (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,missense_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_000020.11:g.38532821A>T, NC_000020.10:g.37161464A>T, NM_020336.4:c.2207A>T, NM_020336.3:c.2207A>T, NM_020336.2:c.2207A>T, XM_005260462.4:c.2243A>T, XM_005260462.3:c.2243A>T, XM_005260462.2:c.2243A>T, XM_005260462.1:c.2243A>T, XM_005260465.4:c.2207A>T, XM_005260465.3:c.2207A>T, XM_005260465.2:c.2207A>T, XM_005260465.1:c.2207A>T, XM_017027966.3:c.2243A>T, XM_017027966.2:c.2243A>T, XM_017027966.1:c.2243A>T, XM_017027967.3:c.2207A>T, XM_017027967.2:c.2207A>T, XM_017027967.1:c.2207A>T, XM_017027968.3:c.1889A>T, XM_017027968.2:c.1889A>T, XM_017027968.1:c.1889A>T, NM_001282918.2:c.2207A>T, NM_001282918.1:c.2207A>T, NM_001282917.2:c.2207A>T, NM_001282917.1:c.2207A>T, XM_047440314.1:c.2243A>T, XM_047440315.1:c.2243A>T, XM_047440316.1:c.2243A>T, NP_065069.1:p.Asp736Val, XP_005260519.1:p.Asp748Val, XP_005260522.1:p.Asp736Val, XP_016883455.1:p.Asp748Val, XP_016883456.1:p.Asp736Val, XP_016883457.1:p.Asp630Val, NP_001269847.1:p.Asp736Val, NP_001269846.1:p.Asp736Val, XP_047296270.1:p.Asp748Val, XP_047296271.1:p.Asp748Val, XP_047296272.1:p.Asp748Val

                                        20.

                                        rs1476401432 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          20:38525462 (GRCh38)
                                          20:37154105 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:38525461:A:T
                                          Gene:
                                          RALGAPB (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_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_000020.11:g.38525462A>T, NC_000020.10:g.37154105A>T, NM_020336.4:c.1846A>T, NM_020336.3:c.1846A>T, NM_020336.2:c.1846A>T, XM_005260462.4:c.1882A>T, XM_005260462.3:c.1882A>T, XM_005260462.2:c.1882A>T, XM_005260462.1:c.1882A>T, XM_005260465.4:c.1846A>T, XM_005260465.3:c.1846A>T, XM_005260465.2:c.1846A>T, XM_005260465.1:c.1846A>T, XM_017027966.3:c.1882A>T, XM_017027966.2:c.1882A>T, XM_017027966.1:c.1882A>T, XM_017027967.3:c.1846A>T, XM_017027967.2:c.1846A>T, XM_017027967.1:c.1846A>T, XM_017027968.3:c.1528A>T, XM_017027968.2:c.1528A>T, XM_017027968.1:c.1528A>T, NM_001282918.2:c.1846A>T, NM_001282918.1:c.1846A>T, NM_001282917.2:c.1846A>T, NM_001282917.1:c.1846A>T, XM_047440314.1:c.1882A>T, XM_047440315.1:c.1882A>T, XM_047440316.1:c.1882A>T, NP_065069.1:p.Asn616Tyr, XP_005260519.1:p.Asn628Tyr, XP_005260522.1:p.Asn616Tyr, XP_016883455.1:p.Asn628Tyr, XP_016883456.1:p.Asn616Tyr, XP_016883457.1:p.Asn510Tyr, NP_001269847.1:p.Asn616Tyr, NP_001269846.1:p.Asn616Tyr, XP_047296270.1:p.Asn628Tyr, XP_047296271.1:p.Asn628Tyr, XP_047296272.1:p.Asn628Tyr

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