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Items: 1 to 20 of 168

1.

rs1488232435 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:205770776 (GRCh38)
    1:205739904 (GRCh37)
    Canonical SPDI:
    NC_000001.11:205770775:C:T
    Gene:
    RAB29 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_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_000001.11:g.205770776C>T, NC_000001.10:g.205739904C>T, XM_006711605.4:c.241G>A, XM_006711605.3:c.241G>A, XM_006711605.2:c.241G>A, XM_006711605.1:c.241G>A, XM_006711606.4:c.241G>A, XM_006711606.3:c.241G>A, XM_006711606.2:c.241G>A, XM_006711606.1:c.241G>A, NM_003929.3:c.457G>A, NM_003929.2:c.457G>A, NM_001135663.2:c.385G>A, NM_001135663.1:c.385G>A, XM_005245570.2:c.457G>A, XM_005245570.1:c.457G>A, XM_017002749.2:c.385G>A, XM_017002749.1:c.385G>A, XM_017002748.2:c.385G>A, XM_017002748.1:c.385G>A, XM_005245569.2:c.457G>A, XM_005245569.1:c.457G>A, NM_001135662.2:c.457G>A, NM_001135662.1:c.457G>A, XM_005245571.2:c.457G>A, XM_005245571.1:c.457G>A, XM_017002750.2:c.385G>A, XM_017002750.1:c.385G>A, NM_001135664.2:c.241G>A, NM_001135664.1:c.241G>A, XM_047433505.1:c.457G>A, XM_047433507.1:c.385G>A, XM_047433509.1:c.385G>A, XM_047433508.1:c.385G>A, XP_006711668.1:p.Glu81Lys, XP_006711669.1:p.Glu81Lys, NP_003920.1:p.Glu153Lys, NP_001129135.1:p.Glu129Lys, XP_005245627.1:p.Glu153Lys, XP_016858238.1:p.Glu129Lys, XP_016858237.1:p.Glu129Lys, XP_005245626.1:p.Glu153Lys, NP_001129134.1:p.Glu153Lys, XP_005245628.1:p.Glu153Lys, XP_016858239.1:p.Glu129Lys, NP_001129136.1:p.Glu81Lys, XP_047289461.1:p.Glu153Lys, XP_047289463.1:p.Glu129Lys, XP_047289465.1:p.Glu129Lys, XP_047289464.1:p.Glu129Lys

    2.

    rs1483398986 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:205771573 (GRCh38)
      1:205740701 (GRCh37)
      Canonical SPDI:
      NC_000001.11:205771572:C:A
      Gene:
      RAB29 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000142/2 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000019/5 (TOPMED)
      A=0.000029/4 (GnomAD)
      HGVS:
      NC_000001.11:g.205771573C>A, NC_000001.10:g.205740701C>A, XM_006711605.4:c.61G>T, XM_006711605.3:c.61G>T, XM_006711605.2:c.61G>T, XM_006711605.1:c.61G>T, XM_006711606.4:c.61G>T, XM_006711606.3:c.61G>T, XM_006711606.2:c.61G>T, XM_006711606.1:c.61G>T, NM_003929.3:c.277G>T, NM_003929.2:c.277G>T, NM_001135663.2:c.205G>T, NM_001135663.1:c.205G>T, XM_005245570.2:c.277G>T, XM_005245570.1:c.277G>T, XM_017002749.2:c.205G>T, XM_017002749.1:c.205G>T, XM_017002748.2:c.205G>T, XM_017002748.1:c.205G>T, XM_005245569.2:c.277G>T, XM_005245569.1:c.277G>T, NM_001135662.2:c.277G>T, NM_001135662.1:c.277G>T, XM_005245571.2:c.277G>T, XM_005245571.1:c.277G>T, XM_017002750.2:c.205G>T, XM_017002750.1:c.205G>T, NM_001135664.2:c.61G>T, NM_001135664.1:c.61G>T, XM_047433505.1:c.277G>T, XM_047433507.1:c.205G>T, XM_047433509.1:c.205G>T, XM_047433508.1:c.205G>T, XP_006711668.1:p.Ala21Ser, XP_006711669.1:p.Ala21Ser, NP_003920.1:p.Ala93Ser, NP_001129135.1:p.Ala69Ser, XP_005245627.1:p.Ala93Ser, XP_016858238.1:p.Ala69Ser, XP_016858237.1:p.Ala69Ser, XP_005245626.1:p.Ala93Ser, NP_001129134.1:p.Ala93Ser, XP_005245628.1:p.Ala93Ser, XP_016858239.1:p.Ala69Ser, NP_001129136.1:p.Ala21Ser, XP_047289461.1:p.Ala93Ser, XP_047289463.1:p.Ala69Ser, XP_047289465.1:p.Ala69Ser, XP_047289464.1:p.Ala69Ser

      3.

      rs1476357239 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:205774944 (GRCh38)
        1:205744072 (GRCh37)
        Canonical SPDI:
        NC_000001.11:205774943:C:T
        Gene:
        RAB29 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.205774944C>T, NC_000001.10:g.205744072C>T, NM_003929.3:c.13G>A, NM_003929.2:c.13G>A, NM_001135663.2:c.13G>A, NM_001135663.1:c.13G>A, XM_005245570.2:c.13G>A, XM_005245570.1:c.13G>A, XM_017002749.2:c.13G>A, XM_017002749.1:c.13G>A, XM_017002748.2:c.13G>A, XM_017002748.1:c.13G>A, XM_005245569.2:c.13G>A, XM_005245569.1:c.13G>A, NM_001135662.2:c.13G>A, NM_001135662.1:c.13G>A, XM_005245571.2:c.13G>A, XM_005245571.1:c.13G>A, XM_017002750.2:c.13G>A, XM_017002750.1:c.13G>A, XM_047433505.1:c.13G>A, XM_047433507.1:c.13G>A, XM_047433509.1:c.13G>A, XM_047433508.1:c.13G>A, NP_003920.1:p.Asp5Asn, NP_001129135.1:p.Asp5Asn, XP_005245627.1:p.Asp5Asn, XP_016858238.1:p.Asp5Asn, XP_016858237.1:p.Asp5Asn, XP_005245626.1:p.Asp5Asn, NP_001129134.1:p.Asp5Asn, XP_005245628.1:p.Asp5Asn, XP_016858239.1:p.Asp5Asn, XP_047289461.1:p.Asp5Asn, XP_047289463.1:p.Asp5Asn, XP_047289465.1:p.Asp5Asn, XP_047289464.1:p.Asp5Asn

        4.

        rs1470098001 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          1:205770844 (GRCh38)
          1:205739972 (GRCh37)
          Canonical SPDI:
          NC_000001.11:205770843:G:A,NC_000001.11:205770843:G:C,NC_000001.11:205770843:G:T
          Gene:
          RAB29 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.205770844G>A, NC_000001.11:g.205770844G>C, NC_000001.11:g.205770844G>T, NC_000001.10:g.205739972G>A, NC_000001.10:g.205739972G>C, NC_000001.10:g.205739972G>T, XM_006711605.4:c.173C>T, XM_006711605.4:c.173C>G, XM_006711605.4:c.173C>A, XM_006711605.3:c.173C>T, XM_006711605.3:c.173C>G, XM_006711605.3:c.173C>A, XM_006711605.2:c.173C>T, XM_006711605.2:c.173C>G, XM_006711605.2:c.173C>A, XM_006711605.1:c.173C>T, XM_006711605.1:c.173C>G, XM_006711605.1:c.173C>A, XM_006711606.4:c.173C>T, XM_006711606.4:c.173C>G, XM_006711606.4:c.173C>A, XM_006711606.3:c.173C>T, XM_006711606.3:c.173C>G, XM_006711606.3:c.173C>A, XM_006711606.2:c.173C>T, XM_006711606.2:c.173C>G, XM_006711606.2:c.173C>A, XM_006711606.1:c.173C>T, XM_006711606.1:c.173C>G, XM_006711606.1:c.173C>A, NM_003929.3:c.389C>T, NM_003929.3:c.389C>G, NM_003929.3:c.389C>A, NM_003929.2:c.389C>T, NM_003929.2:c.389C>G, NM_003929.2:c.389C>A, NM_001135663.2:c.317C>T, NM_001135663.2:c.317C>G, NM_001135663.2:c.317C>A, NM_001135663.1:c.317C>T, NM_001135663.1:c.317C>G, NM_001135663.1:c.317C>A, XM_005245570.2:c.389C>T, XM_005245570.2:c.389C>G, XM_005245570.2:c.389C>A, XM_005245570.1:c.389C>T, XM_005245570.1:c.389C>G, XM_005245570.1:c.389C>A, XM_017002749.2:c.317C>T, XM_017002749.2:c.317C>G, XM_017002749.2:c.317C>A, XM_017002749.1:c.317C>T, XM_017002749.1:c.317C>G, XM_017002749.1:c.317C>A, XM_017002748.2:c.317C>T, XM_017002748.2:c.317C>G, XM_017002748.2:c.317C>A, XM_017002748.1:c.317C>T, XM_017002748.1:c.317C>G, XM_017002748.1:c.317C>A, XM_005245569.2:c.389C>T, XM_005245569.2:c.389C>G, XM_005245569.2:c.389C>A, XM_005245569.1:c.389C>T, XM_005245569.1:c.389C>G, XM_005245569.1:c.389C>A, NM_001135662.2:c.389C>T, NM_001135662.2:c.389C>G, NM_001135662.2:c.389C>A, NM_001135662.1:c.389C>T, NM_001135662.1:c.389C>G, NM_001135662.1:c.389C>A, XM_005245571.2:c.389C>T, XM_005245571.2:c.389C>G, XM_005245571.2:c.389C>A, XM_005245571.1:c.389C>T, XM_005245571.1:c.389C>G, XM_005245571.1:c.389C>A, XM_017002750.2:c.317C>T, XM_017002750.2:c.317C>G, XM_017002750.2:c.317C>A, XM_017002750.1:c.317C>T, XM_017002750.1:c.317C>G, XM_017002750.1:c.317C>A, NM_001135664.2:c.173C>T, NM_001135664.2:c.173C>G, NM_001135664.2:c.173C>A, NM_001135664.1:c.173C>T, NM_001135664.1:c.173C>G, NM_001135664.1:c.173C>A, XM_047433505.1:c.389C>T, XM_047433505.1:c.389C>G, XM_047433505.1:c.389C>A, XM_047433507.1:c.317C>T, XM_047433507.1:c.317C>G, XM_047433507.1:c.317C>A, XM_047433509.1:c.317C>T, XM_047433509.1:c.317C>G, XM_047433509.1:c.317C>A, XM_047433508.1:c.317C>T, XM_047433508.1:c.317C>G, XM_047433508.1:c.317C>A, XP_006711668.1:p.Ser58Phe, XP_006711668.1:p.Ser58Cys, XP_006711668.1:p.Ser58Tyr, XP_006711669.1:p.Ser58Phe, XP_006711669.1:p.Ser58Cys, XP_006711669.1:p.Ser58Tyr, NP_003920.1:p.Ser130Phe, NP_003920.1:p.Ser130Cys, NP_003920.1:p.Ser130Tyr, NP_001129135.1:p.Ser106Phe, NP_001129135.1:p.Ser106Cys, NP_001129135.1:p.Ser106Tyr, XP_005245627.1:p.Ser130Phe, XP_005245627.1:p.Ser130Cys, XP_005245627.1:p.Ser130Tyr, XP_016858238.1:p.Ser106Phe, XP_016858238.1:p.Ser106Cys, XP_016858238.1:p.Ser106Tyr, XP_016858237.1:p.Ser106Phe, XP_016858237.1:p.Ser106Cys, XP_016858237.1:p.Ser106Tyr, XP_005245626.1:p.Ser130Phe, XP_005245626.1:p.Ser130Cys, XP_005245626.1:p.Ser130Tyr, NP_001129134.1:p.Ser130Phe, NP_001129134.1:p.Ser130Cys, NP_001129134.1:p.Ser130Tyr, XP_005245628.1:p.Ser130Phe, XP_005245628.1:p.Ser130Cys, XP_005245628.1:p.Ser130Tyr, XP_016858239.1:p.Ser106Phe, XP_016858239.1:p.Ser106Cys, XP_016858239.1:p.Ser106Tyr, NP_001129136.1:p.Ser58Phe, NP_001129136.1:p.Ser58Cys, NP_001129136.1:p.Ser58Tyr, XP_047289461.1:p.Ser130Phe, XP_047289461.1:p.Ser130Cys, XP_047289461.1:p.Ser130Tyr, XP_047289463.1:p.Ser106Phe, XP_047289463.1:p.Ser106Cys, XP_047289463.1:p.Ser106Tyr, XP_047289465.1:p.Ser106Phe, XP_047289465.1:p.Ser106Cys, XP_047289465.1:p.Ser106Tyr, XP_047289464.1:p.Ser106Phe, XP_047289464.1:p.Ser106Cys, XP_047289464.1:p.Ser106Tyr

          5.

          rs1468187454 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:205772529 (GRCh38)
            1:205741657 (GRCh37)
            Canonical SPDI:
            NC_000001.11:205772528:C:T
            Gene:
            RAB29 (Varview)
            Functional Consequence:
            missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            T=0.00006/1 (TOMMO)
            HGVS:

            6.

            rs1466139409 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:205772506 (GRCh38)
              1:205741634 (GRCh37)
              Canonical SPDI:
              NC_000001.11:205772505:C:T
              Gene:
              RAB29 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,stop_gained,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1458227139 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:205770833 (GRCh38)
                1:205739961 (GRCh37)
                Canonical SPDI:
                NC_000001.11:205770832:C:T
                Gene:
                RAB29 (Varview)
                Functional Consequence:
                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_000001.11:g.205770833C>T, NC_000001.10:g.205739961C>T, XM_006711605.4:c.184G>A, XM_006711605.3:c.184G>A, XM_006711605.2:c.184G>A, XM_006711605.1:c.184G>A, XM_006711606.4:c.184G>A, XM_006711606.3:c.184G>A, XM_006711606.2:c.184G>A, XM_006711606.1:c.184G>A, NM_003929.3:c.400G>A, NM_003929.2:c.400G>A, NM_001135663.2:c.328G>A, NM_001135663.1:c.328G>A, XM_005245570.2:c.400G>A, XM_005245570.1:c.400G>A, XM_017002749.2:c.328G>A, XM_017002749.1:c.328G>A, XM_017002748.2:c.328G>A, XM_017002748.1:c.328G>A, XM_005245569.2:c.400G>A, XM_005245569.1:c.400G>A, NM_001135662.2:c.400G>A, NM_001135662.1:c.400G>A, XM_005245571.2:c.400G>A, XM_005245571.1:c.400G>A, XM_017002750.2:c.328G>A, XM_017002750.1:c.328G>A, NM_001135664.2:c.184G>A, NM_001135664.1:c.184G>A, XM_047433505.1:c.400G>A, XM_047433507.1:c.328G>A, XM_047433509.1:c.328G>A, XM_047433508.1:c.328G>A, XP_006711668.1:p.Val62Met, XP_006711669.1:p.Val62Met, NP_003920.1:p.Val134Met, NP_001129135.1:p.Val110Met, XP_005245627.1:p.Val134Met, XP_016858238.1:p.Val110Met, XP_016858237.1:p.Val110Met, XP_005245626.1:p.Val134Met, NP_001129134.1:p.Val134Met, XP_005245628.1:p.Val134Met, XP_016858239.1:p.Val110Met, NP_001129136.1:p.Val62Met, XP_047289461.1:p.Val134Met, XP_047289463.1:p.Val110Met, XP_047289465.1:p.Val110Met, XP_047289464.1:p.Val110Met

                8.

                rs1456002057 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:205770737 (GRCh38)
                  1:205739865 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:205770736:T:C
                  Gene:
                  RAB29 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.205770737T>C, NC_000001.10:g.205739865T>C, XM_006711605.4:c.280A>G, XM_006711605.3:c.280A>G, XM_006711605.2:c.280A>G, XM_006711605.1:c.280A>G, XM_006711606.4:c.280A>G, XM_006711606.3:c.280A>G, XM_006711606.2:c.280A>G, XM_006711606.1:c.280A>G, NM_003929.3:c.496A>G, NM_003929.2:c.496A>G, NM_001135663.2:c.424A>G, NM_001135663.1:c.424A>G, XM_005245570.2:c.496A>G, XM_005245570.1:c.496A>G, XM_017002749.2:c.424A>G, XM_017002749.1:c.424A>G, XM_017002748.2:c.424A>G, XM_017002748.1:c.424A>G, XM_005245569.2:c.496A>G, XM_005245569.1:c.496A>G, NM_001135662.2:c.496A>G, NM_001135662.1:c.496A>G, XM_005245571.2:c.496A>G, XM_005245571.1:c.496A>G, XM_017002750.2:c.424A>G, XM_017002750.1:c.424A>G, NM_001135664.2:c.280A>G, NM_001135664.1:c.280A>G, XM_047433505.1:c.496A>G, XM_047433507.1:c.424A>G, XM_047433509.1:c.424A>G, XM_047433508.1:c.424A>G, XP_006711668.1:p.Met94Val, XP_006711669.1:p.Met94Val, NP_003920.1:p.Met166Val, NP_001129135.1:p.Met142Val, XP_005245627.1:p.Met166Val, XP_016858238.1:p.Met142Val, XP_016858237.1:p.Met142Val, XP_005245626.1:p.Met166Val, NP_001129134.1:p.Met166Val, XP_005245628.1:p.Met166Val, XP_016858239.1:p.Met142Val, NP_001129136.1:p.Met94Val, XP_047289461.1:p.Met166Val, XP_047289463.1:p.Met142Val, XP_047289465.1:p.Met142Val, XP_047289464.1:p.Met142Val

                  9.

                  rs1446737194 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    1:205770736 (GRCh38)
                    1:205739864 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:205770735:A:G,NC_000001.11:205770735:A:T
                    Gene:
                    RAB29 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000001.11:g.205770736A>G, NC_000001.11:g.205770736A>T, NC_000001.10:g.205739864A>G, NC_000001.10:g.205739864A>T, XM_006711605.4:c.281T>C, XM_006711605.4:c.281T>A, XM_006711605.3:c.281T>C, XM_006711605.3:c.281T>A, XM_006711605.2:c.281T>C, XM_006711605.2:c.281T>A, XM_006711605.1:c.281T>C, XM_006711605.1:c.281T>A, XM_006711606.4:c.281T>C, XM_006711606.4:c.281T>A, XM_006711606.3:c.281T>C, XM_006711606.3:c.281T>A, XM_006711606.2:c.281T>C, XM_006711606.2:c.281T>A, XM_006711606.1:c.281T>C, XM_006711606.1:c.281T>A, NM_003929.3:c.497T>C, NM_003929.3:c.497T>A, NM_003929.2:c.497T>C, NM_003929.2:c.497T>A, NM_001135663.2:c.425T>C, NM_001135663.2:c.425T>A, NM_001135663.1:c.425T>C, NM_001135663.1:c.425T>A, XM_005245570.2:c.497T>C, XM_005245570.2:c.497T>A, XM_005245570.1:c.497T>C, XM_005245570.1:c.497T>A, XM_017002749.2:c.425T>C, XM_017002749.2:c.425T>A, XM_017002749.1:c.425T>C, XM_017002749.1:c.425T>A, XM_017002748.2:c.425T>C, XM_017002748.2:c.425T>A, XM_017002748.1:c.425T>C, XM_017002748.1:c.425T>A, XM_005245569.2:c.497T>C, XM_005245569.2:c.497T>A, XM_005245569.1:c.497T>C, XM_005245569.1:c.497T>A, NM_001135662.2:c.497T>C, NM_001135662.2:c.497T>A, NM_001135662.1:c.497T>C, NM_001135662.1:c.497T>A, XM_005245571.2:c.497T>C, XM_005245571.2:c.497T>A, XM_005245571.1:c.497T>C, XM_005245571.1:c.497T>A, XM_017002750.2:c.425T>C, XM_017002750.2:c.425T>A, XM_017002750.1:c.425T>C, XM_017002750.1:c.425T>A, NM_001135664.2:c.281T>C, NM_001135664.2:c.281T>A, NM_001135664.1:c.281T>C, NM_001135664.1:c.281T>A, XM_047433505.1:c.497T>C, XM_047433505.1:c.497T>A, XM_047433507.1:c.425T>C, XM_047433507.1:c.425T>A, XM_047433509.1:c.425T>C, XM_047433509.1:c.425T>A, XM_047433508.1:c.425T>C, XM_047433508.1:c.425T>A, XP_006711668.1:p.Met94Thr, XP_006711668.1:p.Met94Lys, XP_006711669.1:p.Met94Thr, XP_006711669.1:p.Met94Lys, NP_003920.1:p.Met166Thr, NP_003920.1:p.Met166Lys, NP_001129135.1:p.Met142Thr, NP_001129135.1:p.Met142Lys, XP_005245627.1:p.Met166Thr, XP_005245627.1:p.Met166Lys, XP_016858238.1:p.Met142Thr, XP_016858238.1:p.Met142Lys, XP_016858237.1:p.Met142Thr, XP_016858237.1:p.Met142Lys, XP_005245626.1:p.Met166Thr, XP_005245626.1:p.Met166Lys, NP_001129134.1:p.Met166Thr, NP_001129134.1:p.Met166Lys, XP_005245628.1:p.Met166Thr, XP_005245628.1:p.Met166Lys, XP_016858239.1:p.Met142Thr, XP_016858239.1:p.Met142Lys, NP_001129136.1:p.Met94Thr, NP_001129136.1:p.Met94Lys, XP_047289461.1:p.Met166Thr, XP_047289461.1:p.Met166Lys, XP_047289463.1:p.Met142Thr, XP_047289463.1:p.Met142Lys, XP_047289465.1:p.Met142Thr, XP_047289465.1:p.Met142Lys, XP_047289464.1:p.Met142Thr, XP_047289464.1:p.Met142Lys

                    10.

                    rs1442239939 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:205774839 (GRCh38)
                      1:205743967 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:205774838:C:T
                      Gene:
                      RAB29 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000187/2 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.205774839C>T, NC_000001.10:g.205743967C>T, NM_003929.3:c.118G>A, NM_003929.2:c.118G>A, NM_001135663.2:c.118G>A, NM_001135663.1:c.118G>A, XM_005245570.2:c.118G>A, XM_005245570.1:c.118G>A, XM_017002749.2:c.118G>A, XM_017002749.1:c.118G>A, XM_017002748.2:c.118G>A, XM_017002748.1:c.118G>A, XM_005245569.2:c.118G>A, XM_005245569.1:c.118G>A, NM_001135662.2:c.118G>A, NM_001135662.1:c.118G>A, XM_005245571.2:c.118G>A, XM_005245571.1:c.118G>A, XM_017002750.2:c.118G>A, XM_017002750.1:c.118G>A, XM_047433505.1:c.118G>A, XM_047433507.1:c.118G>A, XM_047433509.1:c.118G>A, XM_047433508.1:c.118G>A, NP_003920.1:p.Val40Met, NP_001129135.1:p.Val40Met, XP_005245627.1:p.Val40Met, XP_016858238.1:p.Val40Met, XP_016858237.1:p.Val40Met, XP_005245626.1:p.Val40Met, NP_001129134.1:p.Val40Met, XP_005245628.1:p.Val40Met, XP_016858239.1:p.Val40Met, XP_047289461.1:p.Val40Met, XP_047289463.1:p.Val40Met, XP_047289465.1:p.Val40Met, XP_047289464.1:p.Val40Met

                      11.

                      rs1436367657 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        1:205772512 (GRCh38)
                        1:205741640 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:205772511:C:G,NC_000001.11:205772511:C:T
                        Gene:
                        RAB29 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.205772512C>G, NC_000001.11:g.205772512C>T, NC_000001.10:g.205741640C>G, NC_000001.10:g.205741640C>T, XM_006711605.4:c.-37G>C, XM_006711605.4:c.-37G>A, XM_006711605.3:c.-37G>C, XM_006711605.3:c.-37G>A, XM_006711605.2:c.-37G>C, XM_006711605.2:c.-37G>A, XM_006711605.1:c.-37G>C, XM_006711605.1:c.-37G>A, XM_006711606.4:c.-37G>C, XM_006711606.4:c.-37G>A, XM_006711606.3:c.-37G>C, XM_006711606.3:c.-37G>A, XM_006711606.2:c.-37G>C, XM_006711606.2:c.-37G>A, XM_006711606.1:c.-37G>C, XM_006711606.1:c.-37G>A, NM_003929.3:c.180G>C, NM_003929.3:c.180G>A, NM_003929.2:c.180G>C, NM_003929.2:c.180G>A, XM_005245570.2:c.180G>C, XM_005245570.2:c.180G>A, XM_005245570.1:c.180G>C, XM_005245570.1:c.180G>A, XM_005245569.2:c.180G>C, XM_005245569.2:c.180G>A, XM_005245569.1:c.180G>C, XM_005245569.1:c.180G>A, NM_001135662.2:c.180G>C, NM_001135662.2:c.180G>A, NM_001135662.1:c.180G>C, NM_001135662.1:c.180G>A, XM_005245571.2:c.180G>C, XM_005245571.2:c.180G>A, XM_005245571.1:c.180G>C, XM_005245571.1:c.180G>A, NM_001135664.2:c.-37G>C, NM_001135664.2:c.-37G>A, NM_001135664.1:c.-37G>C, NM_001135664.1:c.-37G>A, XM_047433505.1:c.180G>C, XM_047433505.1:c.180G>A, NP_003920.1:p.Gln60His, XP_005245627.1:p.Gln60His, XP_005245626.1:p.Gln60His, NP_001129134.1:p.Gln60His, XP_005245628.1:p.Gln60His, XP_047289461.1:p.Gln60His

                        12.

                        rs1436309219 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:205770376 (GRCh38)
                          1:205739504 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:205770375:A:C
                          Gene:
                          RAB29 (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_000001.11:g.205770376A>C, NC_000001.10:g.205739504A>C, XM_006711605.4:c.362T>G, XM_006711605.3:c.362T>G, XM_006711605.2:c.362T>G, XM_006711605.1:c.362T>G, XM_006711606.4:c.362T>G, XM_006711606.3:c.362T>G, XM_006711606.2:c.362T>G, XM_006711606.1:c.362T>G, NM_003929.3:c.578T>G, NM_003929.2:c.578T>G, NM_001135663.2:c.506T>G, NM_001135663.1:c.506T>G, XM_005245570.2:c.578T>G, XM_005245570.1:c.578T>G, XM_017002749.2:c.506T>G, XM_017002749.1:c.506T>G, XM_017002748.2:c.506T>G, XM_017002748.1:c.506T>G, XM_005245569.2:c.578T>G, XM_005245569.1:c.578T>G, NM_001135662.2:c.578T>G, NM_001135662.1:c.578T>G, XM_005245571.2:c.578T>G, XM_005245571.1:c.578T>G, XM_017002750.2:c.506T>G, XM_017002750.1:c.506T>G, NM_001135664.2:c.362T>G, NM_001135664.1:c.362T>G, XM_047433505.1:c.578T>G, XM_047433507.1:c.506T>G, XM_047433509.1:c.506T>G, XM_047433508.1:c.506T>G, XP_006711668.1:p.Leu121Arg, XP_006711669.1:p.Leu121Arg, NP_003920.1:p.Leu193Arg, NP_001129135.1:p.Leu169Arg, XP_005245627.1:p.Leu193Arg, XP_016858238.1:p.Leu169Arg, XP_016858237.1:p.Leu169Arg, XP_005245626.1:p.Leu193Arg, NP_001129134.1:p.Leu193Arg, XP_005245628.1:p.Leu193Arg, XP_016858239.1:p.Leu169Arg, NP_001129136.1:p.Leu121Arg, XP_047289461.1:p.Leu193Arg, XP_047289463.1:p.Leu169Arg, XP_047289465.1:p.Leu169Arg, XP_047289464.1:p.Leu169Arg

                          13.

                          rs1422068985 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            1:205770362 (GRCh38)
                            1:205739490 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:205770361:A:C,NC_000001.11:205770361:A:G
                            Gene:
                            RAB29 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.205770362A>C, NC_000001.11:g.205770362A>G, NC_000001.10:g.205739490A>C, NC_000001.10:g.205739490A>G, XM_006711605.4:c.376T>G, XM_006711605.4:c.376T>C, XM_006711605.3:c.376T>G, XM_006711605.3:c.376T>C, XM_006711605.2:c.376T>G, XM_006711605.2:c.376T>C, XM_006711605.1:c.376T>G, XM_006711605.1:c.376T>C, XM_006711606.4:c.376T>G, XM_006711606.4:c.376T>C, XM_006711606.3:c.376T>G, XM_006711606.3:c.376T>C, XM_006711606.2:c.376T>G, XM_006711606.2:c.376T>C, XM_006711606.1:c.376T>G, XM_006711606.1:c.376T>C, NM_003929.3:c.592T>G, NM_003929.3:c.592T>C, NM_003929.2:c.592T>G, NM_003929.2:c.592T>C, NM_001135663.2:c.520T>G, NM_001135663.2:c.520T>C, NM_001135663.1:c.520T>G, NM_001135663.1:c.520T>C, XM_005245570.2:c.592T>G, XM_005245570.2:c.592T>C, XM_005245570.1:c.592T>G, XM_005245570.1:c.592T>C, XM_017002749.2:c.520T>G, XM_017002749.2:c.520T>C, XM_017002749.1:c.520T>G, XM_017002749.1:c.520T>C, XM_017002748.2:c.520T>G, XM_017002748.2:c.520T>C, XM_017002748.1:c.520T>G, XM_017002748.1:c.520T>C, XM_005245569.2:c.592T>G, XM_005245569.2:c.592T>C, XM_005245569.1:c.592T>G, XM_005245569.1:c.592T>C, NM_001135662.2:c.592T>G, NM_001135662.2:c.592T>C, NM_001135662.1:c.592T>G, NM_001135662.1:c.592T>C, XM_005245571.2:c.592T>G, XM_005245571.2:c.592T>C, XM_005245571.1:c.592T>G, XM_005245571.1:c.592T>C, XM_017002750.2:c.520T>G, XM_017002750.2:c.520T>C, XM_017002750.1:c.520T>G, XM_017002750.1:c.520T>C, NM_001135664.2:c.376T>G, NM_001135664.2:c.376T>C, NM_001135664.1:c.376T>G, NM_001135664.1:c.376T>C, XM_047433505.1:c.592T>G, XM_047433505.1:c.592T>C, XM_047433507.1:c.520T>G, XM_047433507.1:c.520T>C, XM_047433509.1:c.520T>G, XM_047433509.1:c.520T>C, XM_047433508.1:c.520T>G, XM_047433508.1:c.520T>C, XP_006711668.1:p.Ser126Ala, XP_006711668.1:p.Ser126Pro, XP_006711669.1:p.Ser126Ala, XP_006711669.1:p.Ser126Pro, NP_003920.1:p.Ser198Ala, NP_003920.1:p.Ser198Pro, NP_001129135.1:p.Ser174Ala, NP_001129135.1:p.Ser174Pro, XP_005245627.1:p.Ser198Ala, XP_005245627.1:p.Ser198Pro, XP_016858238.1:p.Ser174Ala, XP_016858238.1:p.Ser174Pro, XP_016858237.1:p.Ser174Ala, XP_016858237.1:p.Ser174Pro, XP_005245626.1:p.Ser198Ala, XP_005245626.1:p.Ser198Pro, NP_001129134.1:p.Ser198Ala, NP_001129134.1:p.Ser198Pro, XP_005245628.1:p.Ser198Ala, XP_005245628.1:p.Ser198Pro, XP_016858239.1:p.Ser174Ala, XP_016858239.1:p.Ser174Pro, NP_001129136.1:p.Ser126Ala, NP_001129136.1:p.Ser126Pro, XP_047289461.1:p.Ser198Ala, XP_047289461.1:p.Ser198Pro, XP_047289463.1:p.Ser174Ala, XP_047289463.1:p.Ser174Pro, XP_047289465.1:p.Ser174Ala, XP_047289465.1:p.Ser174Pro, XP_047289464.1:p.Ser174Ala, XP_047289464.1:p.Ser174Pro

                            14.

                            rs1416325471 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              1:205774890 (GRCh38)
                              1:205744018 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:205774889:G:A,NC_000001.11:205774889:G:C
                              Gene:
                              RAB29 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.205774890G>A, NC_000001.11:g.205774890G>C, NC_000001.10:g.205744018G>A, NC_000001.10:g.205744018G>C, NM_003929.3:c.67C>T, NM_003929.3:c.67C>G, NM_003929.2:c.67C>T, NM_003929.2:c.67C>G, NM_001135663.2:c.67C>T, NM_001135663.2:c.67C>G, NM_001135663.1:c.67C>T, NM_001135663.1:c.67C>G, XM_005245570.2:c.67C>T, XM_005245570.2:c.67C>G, XM_005245570.1:c.67C>T, XM_005245570.1:c.67C>G, XM_017002749.2:c.67C>T, XM_017002749.2:c.67C>G, XM_017002749.1:c.67C>T, XM_017002749.1:c.67C>G, XM_017002748.2:c.67C>T, XM_017002748.2:c.67C>G, XM_017002748.1:c.67C>T, XM_017002748.1:c.67C>G, XM_005245569.2:c.67C>T, XM_005245569.2:c.67C>G, XM_005245569.1:c.67C>T, XM_005245569.1:c.67C>G, NM_001135662.2:c.67C>T, NM_001135662.2:c.67C>G, NM_001135662.1:c.67C>T, NM_001135662.1:c.67C>G, XM_005245571.2:c.67C>T, XM_005245571.2:c.67C>G, XM_005245571.1:c.67C>T, XM_005245571.1:c.67C>G, XM_017002750.2:c.67C>T, XM_017002750.2:c.67C>G, XM_017002750.1:c.67C>T, XM_017002750.1:c.67C>G, XM_047433505.1:c.67C>T, XM_047433505.1:c.67C>G, XM_047433507.1:c.67C>T, XM_047433507.1:c.67C>G, XM_047433509.1:c.67C>T, XM_047433509.1:c.67C>G, XM_047433508.1:c.67C>T, XM_047433508.1:c.67C>G, NP_003920.1:p.Leu23Val, NP_001129135.1:p.Leu23Val, XP_005245627.1:p.Leu23Val, XP_016858238.1:p.Leu23Val, XP_016858237.1:p.Leu23Val, XP_005245626.1:p.Leu23Val, NP_001129134.1:p.Leu23Val, XP_005245628.1:p.Leu23Val, XP_016858239.1:p.Leu23Val, XP_047289461.1:p.Leu23Val, XP_047289463.1:p.Leu23Val, XP_047289465.1:p.Leu23Val, XP_047289464.1:p.Leu23Val

                              15.

                              rs1416024249 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:205770391 (GRCh38)
                                1:205739519 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:205770390:C:T
                                Gene:
                                RAB29 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.205770391C>T, NC_000001.10:g.205739519C>T, XM_006711605.4:c.347G>A, XM_006711605.3:c.347G>A, XM_006711605.2:c.347G>A, XM_006711605.1:c.347G>A, XM_006711606.4:c.347G>A, XM_006711606.3:c.347G>A, XM_006711606.2:c.347G>A, XM_006711606.1:c.347G>A, NM_003929.3:c.563G>A, NM_003929.2:c.563G>A, NM_001135663.2:c.491G>A, NM_001135663.1:c.491G>A, XM_005245570.2:c.563G>A, XM_005245570.1:c.563G>A, XM_017002749.2:c.491G>A, XM_017002749.1:c.491G>A, XM_017002748.2:c.491G>A, XM_017002748.1:c.491G>A, XM_005245569.2:c.563G>A, XM_005245569.1:c.563G>A, NM_001135662.2:c.563G>A, NM_001135662.1:c.563G>A, XM_005245571.2:c.563G>A, XM_005245571.1:c.563G>A, XM_017002750.2:c.491G>A, XM_017002750.1:c.491G>A, NM_001135664.2:c.347G>A, NM_001135664.1:c.347G>A, XM_047433505.1:c.563G>A, XM_047433507.1:c.491G>A, XM_047433509.1:c.491G>A, XM_047433508.1:c.491G>A, XP_006711668.1:p.Gly116Glu, XP_006711669.1:p.Gly116Glu, NP_003920.1:p.Gly188Glu, NP_001129135.1:p.Gly164Glu, XP_005245627.1:p.Gly188Glu, XP_016858238.1:p.Gly164Glu, XP_016858237.1:p.Gly164Glu, XP_005245626.1:p.Gly188Glu, NP_001129134.1:p.Gly188Glu, XP_005245628.1:p.Gly188Glu, XP_016858239.1:p.Gly164Glu, NP_001129136.1:p.Gly116Glu, XP_047289461.1:p.Gly188Glu, XP_047289463.1:p.Gly164Glu, XP_047289465.1:p.Gly164Glu, XP_047289464.1:p.Gly164Glu

                                16.

                                rs1414012767 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:205774908 (GRCh38)
                                  1:205744036 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:205774907:C:T
                                  Gene:
                                  RAB29 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.205774908C>T, NC_000001.10:g.205744036C>T, NM_003929.3:c.49G>A, NM_003929.2:c.49G>A, NM_001135663.2:c.49G>A, NM_001135663.1:c.49G>A, XM_005245570.2:c.49G>A, XM_005245570.1:c.49G>A, XM_017002749.2:c.49G>A, XM_017002749.1:c.49G>A, XM_017002748.2:c.49G>A, XM_017002748.1:c.49G>A, XM_005245569.2:c.49G>A, XM_005245569.1:c.49G>A, NM_001135662.2:c.49G>A, NM_001135662.1:c.49G>A, XM_005245571.2:c.49G>A, XM_005245571.1:c.49G>A, XM_017002750.2:c.49G>A, XM_017002750.1:c.49G>A, XM_047433505.1:c.49G>A, XM_047433507.1:c.49G>A, XM_047433509.1:c.49G>A, XM_047433508.1:c.49G>A, NP_003920.1:p.Ala17Thr, NP_001129135.1:p.Ala17Thr, XP_005245627.1:p.Ala17Thr, XP_016858238.1:p.Ala17Thr, XP_016858237.1:p.Ala17Thr, XP_005245626.1:p.Ala17Thr, NP_001129134.1:p.Ala17Thr, XP_005245628.1:p.Ala17Thr, XP_016858239.1:p.Ala17Thr, XP_047289461.1:p.Ala17Thr, XP_047289463.1:p.Ala17Thr, XP_047289465.1:p.Ala17Thr, XP_047289464.1:p.Ala17Thr

                                  17.

                                  rs1411054440 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    1:205770366 (GRCh38)
                                    1:205739494 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:205770365:C:G,NC_000001.11:205770365:C:T
                                    Gene:
                                    RAB29 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.205770366C>G, NC_000001.11:g.205770366C>T, NC_000001.10:g.205739494C>G, NC_000001.10:g.205739494C>T, XM_006711605.4:c.372G>C, XM_006711605.4:c.372G>A, XM_006711605.3:c.372G>C, XM_006711605.3:c.372G>A, XM_006711605.2:c.372G>C, XM_006711605.2:c.372G>A, XM_006711605.1:c.372G>C, XM_006711605.1:c.372G>A, XM_006711606.4:c.372G>C, XM_006711606.4:c.372G>A, XM_006711606.3:c.372G>C, XM_006711606.3:c.372G>A, XM_006711606.2:c.372G>C, XM_006711606.2:c.372G>A, XM_006711606.1:c.372G>C, XM_006711606.1:c.372G>A, NM_003929.3:c.588G>C, NM_003929.3:c.588G>A, NM_003929.2:c.588G>C, NM_003929.2:c.588G>A, NM_001135663.2:c.516G>C, NM_001135663.2:c.516G>A, NM_001135663.1:c.516G>C, NM_001135663.1:c.516G>A, XM_005245570.2:c.588G>C, XM_005245570.2:c.588G>A, XM_005245570.1:c.588G>C, XM_005245570.1:c.588G>A, XM_017002749.2:c.516G>C, XM_017002749.2:c.516G>A, XM_017002749.1:c.516G>C, XM_017002749.1:c.516G>A, XM_017002748.2:c.516G>C, XM_017002748.2:c.516G>A, XM_017002748.1:c.516G>C, XM_017002748.1:c.516G>A, XM_005245569.2:c.588G>C, XM_005245569.2:c.588G>A, XM_005245569.1:c.588G>C, XM_005245569.1:c.588G>A, NM_001135662.2:c.588G>C, NM_001135662.2:c.588G>A, NM_001135662.1:c.588G>C, NM_001135662.1:c.588G>A, XM_005245571.2:c.588G>C, XM_005245571.2:c.588G>A, XM_005245571.1:c.588G>C, XM_005245571.1:c.588G>A, XM_017002750.2:c.516G>C, XM_017002750.2:c.516G>A, XM_017002750.1:c.516G>C, XM_017002750.1:c.516G>A, NM_001135664.2:c.372G>C, NM_001135664.2:c.372G>A, NM_001135664.1:c.372G>C, NM_001135664.1:c.372G>A, XM_047433505.1:c.588G>C, XM_047433505.1:c.588G>A, XM_047433507.1:c.516G>C, XM_047433507.1:c.516G>A, XM_047433509.1:c.516G>C, XM_047433509.1:c.516G>A, XM_047433508.1:c.516G>C, XM_047433508.1:c.516G>A, XP_006711668.1:p.Lys124Asn, XP_006711669.1:p.Lys124Asn, NP_003920.1:p.Lys196Asn, NP_001129135.1:p.Lys172Asn, XP_005245627.1:p.Lys196Asn, XP_016858238.1:p.Lys172Asn, XP_016858237.1:p.Lys172Asn, XP_005245626.1:p.Lys196Asn, NP_001129134.1:p.Lys196Asn, XP_005245628.1:p.Lys196Asn, XP_016858239.1:p.Lys172Asn, NP_001129136.1:p.Lys124Asn, XP_047289461.1:p.Lys196Asn, XP_047289463.1:p.Lys172Asn, XP_047289465.1:p.Lys172Asn, XP_047289464.1:p.Lys172Asn

                                    18.

                                    rs1400999837 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:205774865 (GRCh38)
                                      1:205743993 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:205774864:C:T
                                      Gene:
                                      RAB29 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.205774865C>T, NC_000001.10:g.205743993C>T, NM_003929.3:c.92G>A, NM_003929.2:c.92G>A, NM_001135663.2:c.92G>A, NM_001135663.1:c.92G>A, XM_005245570.2:c.92G>A, XM_005245570.1:c.92G>A, XM_017002749.2:c.92G>A, XM_017002749.1:c.92G>A, XM_017002748.2:c.92G>A, XM_017002748.1:c.92G>A, XM_005245569.2:c.92G>A, XM_005245569.1:c.92G>A, NM_001135662.2:c.92G>A, NM_001135662.1:c.92G>A, XM_005245571.2:c.92G>A, XM_005245571.1:c.92G>A, XM_017002750.2:c.92G>A, XM_017002750.1:c.92G>A, XM_047433505.1:c.92G>A, XM_047433507.1:c.92G>A, XM_047433509.1:c.92G>A, XM_047433508.1:c.92G>A, NP_003920.1:p.Ser31Asn, NP_001129135.1:p.Ser31Asn, XP_005245627.1:p.Ser31Asn, XP_016858238.1:p.Ser31Asn, XP_016858237.1:p.Ser31Asn, XP_005245626.1:p.Ser31Asn, NP_001129134.1:p.Ser31Asn, XP_005245628.1:p.Ser31Asn, XP_016858239.1:p.Ser31Asn, XP_047289461.1:p.Ser31Asn, XP_047289463.1:p.Ser31Asn, XP_047289465.1:p.Ser31Asn, XP_047289464.1:p.Ser31Asn

                                      19.

                                      rs1400113995 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        1:205774913 (GRCh38)
                                        1:205744042 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:205774913:CCCCC:CCCCCC
                                        Gene:
                                        RAB29 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CCCCCC=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.205774918dup, NC_000001.10:g.205744046dup, NM_003929.3:c.43dup, NM_003929.2:c.43dup, NM_001135663.2:c.43dup, NM_001135663.1:c.43dup, XM_005245570.2:c.43dup, XM_005245570.1:c.43dup, XM_017002749.2:c.43dup, XM_017002749.1:c.43dup, XM_017002748.2:c.43dup, XM_017002748.1:c.43dup, XM_005245569.2:c.43dup, XM_005245569.1:c.43dup, NM_001135662.2:c.43dup, NM_001135662.1:c.43dup, XM_005245571.2:c.43dup, XM_005245571.1:c.43dup, XM_017002750.2:c.43dup, XM_017002750.1:c.43dup, XM_047433505.1:c.43dup, XM_047433507.1:c.43dup, XM_047433509.1:c.43dup, XM_047433508.1:c.43dup, NP_003920.1:p.Asp15fs, NP_001129135.1:p.Asp15fs, XP_005245627.1:p.Asp15fs, XP_016858238.1:p.Asp15fs, XP_016858237.1:p.Asp15fs, XP_005245626.1:p.Asp15fs, NP_001129134.1:p.Asp15fs, XP_005245628.1:p.Asp15fs, XP_016858239.1:p.Asp15fs, XP_047289461.1:p.Asp15fs, XP_047289463.1:p.Asp15fs, XP_047289465.1:p.Asp15fs, XP_047289464.1:p.Asp15fs

                                        20.

                                        rs1399087028 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:205770396 (GRCh38)
                                          1:205739524 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:205770395:G:A
                                          Gene:
                                          RAB29 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.205770396G>A, NC_000001.10:g.205739524G>A, XM_006711605.4:c.342C>T, XM_006711605.3:c.342C>T, XM_006711605.2:c.342C>T, XM_006711605.1:c.342C>T, XM_006711606.4:c.342C>T, XM_006711606.3:c.342C>T, XM_006711606.2:c.342C>T, XM_006711606.1:c.342C>T, NM_003929.3:c.558C>T, NM_003929.2:c.558C>T, NM_001135663.2:c.486C>T, NM_001135663.1:c.486C>T, XM_005245570.2:c.558C>T, XM_005245570.1:c.558C>T, XM_017002749.2:c.486C>T, XM_017002749.1:c.486C>T, XM_017002748.2:c.486C>T, XM_017002748.1:c.486C>T, XM_005245569.2:c.558C>T, XM_005245569.1:c.558C>T, NM_001135662.2:c.558C>T, NM_001135662.1:c.558C>T, XM_005245571.2:c.558C>T, XM_005245571.1:c.558C>T, XM_017002750.2:c.486C>T, XM_017002750.1:c.486C>T, NM_001135664.2:c.342C>T, NM_001135664.1:c.342C>T, XM_047433505.1:c.558C>T, XM_047433507.1:c.486C>T, XM_047433509.1:c.486C>T, XM_047433508.1:c.486C>T

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