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Items: 1 to 20 of 1487

1.

rs1490020455 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    12:40310551 (GRCh38)
    12:40704353 (GRCh37)
    Canonical SPDI:
    NC_000012.12:40310550:C:A,NC_000012.12:40310550:C:T
    Gene:
    LRRK2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000111/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.40310551C>A, NC_000012.12:g.40310551C>T, NC_000012.11:g.40704353C>A, NC_000012.11:g.40704353C>T, NG_011709.1:g.90541C>A, NG_011709.1:g.90541C>T, NM_198578.4:c.4438C>A, NM_198578.4:c.4438C>T, NM_198578.3:c.4438C>A, NM_198578.3:c.4438C>T, XM_005268629.5:c.4438C>A, XM_005268629.5:c.4438C>T, XM_005268629.4:c.4438C>A, XM_005268629.4:c.4438C>T, XM_005268629.3:c.4438C>A, XM_005268629.3:c.4438C>T, XM_005268629.2:c.4438C>A, XM_005268629.2:c.4438C>T, XM_005268629.1:c.4438C>A, XM_005268629.1:c.4438C>T, XM_011537877.4:c.4438C>A, XM_011537877.4:c.4438C>T, XM_011537877.3:c.4438C>A, XM_011537877.3:c.4438C>T, XM_011537877.2:c.4438C>A, XM_011537877.2:c.4438C>T, XM_011537877.1:c.4438C>A, XM_011537877.1:c.4438C>T, XM_011537881.4:c.4438C>A, XM_011537881.4:c.4438C>T, XM_011537881.3:c.4438C>A, XM_011537881.3:c.4438C>T, XM_011537881.2:c.4438C>A, XM_011537881.2:c.4438C>T, XM_011537881.1:c.4438C>A, XM_011537881.1:c.4438C>T, XM_017018786.3:c.4438C>A, XM_017018786.3:c.4438C>T, XM_017018786.2:c.4438C>A, XM_017018786.2:c.4438C>T, XM_017018786.1:c.4438C>A, XM_017018786.1:c.4438C>T, XM_024448833.2:c.3235C>A, XM_024448833.2:c.3235C>T, XM_024448833.1:c.3235C>A, XM_024448833.1:c.3235C>T, XM_017018787.2:c.1354C>A, XM_017018787.2:c.1354C>T, XM_017018787.1:c.1354C>A, XM_017018787.1:c.1354C>T, XR_007063041.1:n.4573C>A, XR_007063041.1:n.4573C>T, XM_047428277.1:c.4438C>A, XM_047428277.1:c.4438C>T, XM_047428278.1:c.4438C>A, XM_047428278.1:c.4438C>T, XM_047428279.1:c.4438C>A, XM_047428279.1:c.4438C>T, NP_940980.4:p.Pro1480Thr, NP_940980.4:p.Pro1480Ser, XP_005268686.1:p.Pro1480Thr, XP_005268686.1:p.Pro1480Ser, XP_011536179.1:p.Pro1480Thr, XP_011536179.1:p.Pro1480Ser, XP_011536183.1:p.Pro1480Thr, XP_011536183.1:p.Pro1480Ser, XP_016874275.1:p.Pro1480Thr, XP_016874275.1:p.Pro1480Ser, XP_024304601.1:p.Pro1079Thr, XP_024304601.1:p.Pro1079Ser, XP_016874276.1:p.Pro452Thr, XP_016874276.1:p.Pro452Ser, XP_047284233.1:p.Pro1480Thr, XP_047284233.1:p.Pro1480Ser, XP_047284234.1:p.Pro1480Thr, XP_047284234.1:p.Pro1480Ser, XP_047284235.1:p.Pro1480Thr, XP_047284235.1:p.Pro1480Ser
    3.

    rs1487109513 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:40302879 (GRCh38)
      12:40696681 (GRCh37)
      Canonical SPDI:
      NC_000012.12:40302878:C:T
      Gene:
      LRRK2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.40302879C>T, NC_000012.11:g.40696681C>T, NG_011709.1:g.82869C>T, NM_198578.4:c.3587C>T, NM_198578.3:c.3587C>T, XM_005268629.5:c.3587C>T, XM_005268629.4:c.3587C>T, XM_005268629.3:c.3587C>T, XM_005268629.2:c.3587C>T, XM_005268629.1:c.3587C>T, XM_011537877.4:c.3587C>T, XM_011537877.3:c.3587C>T, XM_011537877.2:c.3587C>T, XM_011537877.1:c.3587C>T, XM_011537881.4:c.3587C>T, XM_011537881.3:c.3587C>T, XM_011537881.2:c.3587C>T, XM_011537881.1:c.3587C>T, XM_011537882.4:c.3587C>T, XM_011537882.3:c.3587C>T, XM_011537882.2:c.3587C>T, XM_011537882.1:c.3587C>T, XM_017018786.3:c.3587C>T, XM_017018786.2:c.3587C>T, XM_017018786.1:c.3587C>T, XM_024448833.2:c.2384C>T, XM_024448833.1:c.2384C>T, XM_017018787.2:c.503C>T, XM_017018787.1:c.503C>T, XR_007063041.1:n.3722C>T, XM_047428277.1:c.3587C>T, XM_047428278.1:c.3587C>T, XM_047428279.1:c.3587C>T, NP_940980.4:p.Pro1196Leu, XP_005268686.1:p.Pro1196Leu, XP_011536179.1:p.Pro1196Leu, XP_011536183.1:p.Pro1196Leu, XP_011536184.1:p.Pro1196Leu, XP_016874275.1:p.Pro1196Leu, XP_024304601.1:p.Pro795Leu, XP_016874276.1:p.Pro168Leu, XP_047284233.1:p.Pro1196Leu, XP_047284234.1:p.Pro1196Leu, XP_047284235.1:p.Pro1196Leu
      4.

      rs1486232891 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        12:40298273 (GRCh38)
        12:40692075 (GRCh37)
        Canonical SPDI:
        NC_000012.12:40298272:C:G
        Gene:
        LRRK2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.40298273C>G, NC_000012.11:g.40692075C>G, NG_011709.1:g.78263C>G, NM_198578.4:c.3127C>G, NM_198578.3:c.3127C>G, XM_005268629.5:c.3127C>G, XM_005268629.4:c.3127C>G, XM_005268629.3:c.3127C>G, XM_005268629.2:c.3127C>G, XM_005268629.1:c.3127C>G, XM_011537877.4:c.3127C>G, XM_011537877.3:c.3127C>G, XM_011537877.2:c.3127C>G, XM_011537877.1:c.3127C>G, XM_011537881.4:c.3127C>G, XM_011537881.3:c.3127C>G, XM_011537881.2:c.3127C>G, XM_011537881.1:c.3127C>G, XM_011537882.4:c.3127C>G, XM_011537882.3:c.3127C>G, XM_011537882.2:c.3127C>G, XM_011537882.1:c.3127C>G, XM_017018786.3:c.3127C>G, XM_017018786.2:c.3127C>G, XM_017018786.1:c.3127C>G, XM_024448833.2:c.1924C>G, XM_024448833.1:c.1924C>G, XM_017018787.2:c.43C>G, XM_017018787.1:c.43C>G, XR_007063041.1:n.3262C>G, XM_047428277.1:c.3127C>G, XM_047428278.1:c.3127C>G, XM_047428279.1:c.3127C>G, NP_940980.4:p.His1043Asp, XP_005268686.1:p.His1043Asp, XP_011536179.1:p.His1043Asp, XP_011536183.1:p.His1043Asp, XP_011536184.1:p.His1043Asp, XP_016874275.1:p.His1043Asp, XP_024304601.1:p.His642Asp, XP_016874276.1:p.His15Asp, XP_047284233.1:p.His1043Asp, XP_047284234.1:p.His1043Asp, XP_047284235.1:p.His1043Asp
        5.

        rs1485812980 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          12:40251468 (GRCh38)
          12:40645270 (GRCh37)
          Canonical SPDI:
          NC_000012.12:40251467:G:A,NC_000012.12:40251467:G:T
          Gene:
          LRRK2 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000012.12:g.40251468G>A, NC_000012.12:g.40251468G>T, NC_000012.11:g.40645270G>A, NC_000012.11:g.40645270G>T, NG_011709.1:g.31458G>A, NG_011709.1:g.31458G>T, NM_198578.4:c.1105G>A, NM_198578.4:c.1105G>T, NM_198578.3:c.1105G>A, NM_198578.3:c.1105G>T, XM_005268629.5:c.1105G>A, XM_005268629.5:c.1105G>T, XM_005268629.4:c.1105G>A, XM_005268629.4:c.1105G>T, XM_005268629.3:c.1105G>A, XM_005268629.3:c.1105G>T, XM_005268629.2:c.1105G>A, XM_005268629.2:c.1105G>T, XM_005268629.1:c.1105G>A, XM_005268629.1:c.1105G>T, XM_011537877.4:c.1105G>A, XM_011537877.4:c.1105G>T, XM_011537877.3:c.1105G>A, XM_011537877.3:c.1105G>T, XM_011537877.2:c.1105G>A, XM_011537877.2:c.1105G>T, XM_011537877.1:c.1105G>A, XM_011537877.1:c.1105G>T, XM_011537881.4:c.1105G>A, XM_011537881.4:c.1105G>T, XM_011537881.3:c.1105G>A, XM_011537881.3:c.1105G>T, XM_011537881.2:c.1105G>A, XM_011537881.2:c.1105G>T, XM_011537881.1:c.1105G>A, XM_011537881.1:c.1105G>T, XM_011537882.4:c.1105G>A, XM_011537882.4:c.1105G>T, XM_011537882.3:c.1105G>A, XM_011537882.3:c.1105G>T, XM_011537882.2:c.1105G>A, XM_011537882.2:c.1105G>T, XM_011537882.1:c.1105G>A, XM_011537882.1:c.1105G>T, XM_017018786.3:c.1105G>A, XM_017018786.3:c.1105G>T, XM_017018786.2:c.1105G>A, XM_017018786.2:c.1105G>T, XM_017018786.1:c.1105G>A, XM_017018786.1:c.1105G>T, XR_007063041.1:n.1240G>A, XR_007063041.1:n.1240G>T, XM_047428277.1:c.1105G>A, XM_047428277.1:c.1105G>T, XM_047428278.1:c.1105G>A, XM_047428278.1:c.1105G>T, XM_047428279.1:c.1105G>A, XM_047428279.1:c.1105G>T, NP_940980.4:p.Ala369Thr, NP_940980.4:p.Ala369Ser, XP_005268686.1:p.Ala369Thr, XP_005268686.1:p.Ala369Ser, XP_011536179.1:p.Ala369Thr, XP_011536179.1:p.Ala369Ser, XP_011536183.1:p.Ala369Thr, XP_011536183.1:p.Ala369Ser, XP_011536184.1:p.Ala369Thr, XP_011536184.1:p.Ala369Ser, XP_016874275.1:p.Ala369Thr, XP_016874275.1:p.Ala369Ser, XP_047284233.1:p.Ala369Thr, XP_047284233.1:p.Ala369Ser, XP_047284234.1:p.Ala369Thr, XP_047284234.1:p.Ala369Ser, XP_047284235.1:p.Ala369Thr, XP_047284235.1:p.Ala369Ser
          6.

          rs1484633899 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:40298378 (GRCh38)
            12:40692180 (GRCh37)
            Canonical SPDI:
            NC_000012.12:40298377:C:T
            Gene:
            LRRK2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.40298378C>T, NC_000012.11:g.40692180C>T, NG_011709.1:g.78368C>T, NM_198578.4:c.3232C>T, NM_198578.3:c.3232C>T, XM_005268629.5:c.3232C>T, XM_005268629.4:c.3232C>T, XM_005268629.3:c.3232C>T, XM_005268629.2:c.3232C>T, XM_005268629.1:c.3232C>T, XM_011537877.4:c.3232C>T, XM_011537877.3:c.3232C>T, XM_011537877.2:c.3232C>T, XM_011537877.1:c.3232C>T, XM_011537881.4:c.3232C>T, XM_011537881.3:c.3232C>T, XM_011537881.2:c.3232C>T, XM_011537881.1:c.3232C>T, XM_011537882.4:c.3232C>T, XM_011537882.3:c.3232C>T, XM_011537882.2:c.3232C>T, XM_011537882.1:c.3232C>T, XM_017018786.3:c.3232C>T, XM_017018786.2:c.3232C>T, XM_017018786.1:c.3232C>T, XM_024448833.2:c.2029C>T, XM_024448833.1:c.2029C>T, XM_017018787.2:c.148C>T, XM_017018787.1:c.148C>T, XR_007063041.1:n.3367C>T, XM_047428277.1:c.3232C>T, XM_047428278.1:c.3232C>T, XM_047428279.1:c.3232C>T, NP_940980.4:p.Pro1078Ser, XP_005268686.1:p.Pro1078Ser, XP_011536179.1:p.Pro1078Ser, XP_011536183.1:p.Pro1078Ser, XP_011536184.1:p.Pro1078Ser, XP_016874275.1:p.Pro1078Ser, XP_024304601.1:p.Pro677Ser, XP_016874276.1:p.Pro50Ser, XP_047284233.1:p.Pro1078Ser, XP_047284234.1:p.Pro1078Ser, XP_047284235.1:p.Pro1078Ser
            7.
            8.

            rs1484372271 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:40284076 (GRCh38)
              12:40677878 (GRCh37)
              Canonical SPDI:
              NC_000012.12:40284075:C:A
              Gene:
              LRRK2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              NC_000012.12:g.40284076C>A, NC_000012.11:g.40677878C>A, NG_011709.1:g.64066C>A, NM_198578.4:c.2443C>A, NM_198578.3:c.2443C>A, XM_005268629.5:c.2443C>A, XM_005268629.4:c.2443C>A, XM_005268629.3:c.2443C>A, XM_005268629.2:c.2443C>A, XM_005268629.1:c.2443C>A, XM_011537877.4:c.2443C>A, XM_011537877.3:c.2443C>A, XM_011537877.2:c.2443C>A, XM_011537877.1:c.2443C>A, XM_011537881.4:c.2443C>A, XM_011537881.3:c.2443C>A, XM_011537881.2:c.2443C>A, XM_011537881.1:c.2443C>A, XM_011537882.4:c.2443C>A, XM_011537882.3:c.2443C>A, XM_011537882.2:c.2443C>A, XM_011537882.1:c.2443C>A, XM_017018786.3:c.2443C>A, XM_017018786.2:c.2443C>A, XM_017018786.1:c.2443C>A, XM_024448833.2:c.1240C>A, XM_024448833.1:c.1240C>A, XR_007063041.1:n.2578C>A, XM_047428277.1:c.2443C>A, XM_047428278.1:c.2443C>A, XM_047428279.1:c.2443C>A, NP_940980.4:p.Pro815Thr, XP_005268686.1:p.Pro815Thr, XP_011536179.1:p.Pro815Thr, XP_011536183.1:p.Pro815Thr, XP_011536184.1:p.Pro815Thr, XP_016874275.1:p.Pro815Thr, XP_024304601.1:p.Pro414Thr, XP_047284233.1:p.Pro815Thr, XP_047284234.1:p.Pro815Thr, XP_047284235.1:p.Pro815Thr
              9.

              rs1483728068 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                12:40252921 (GRCh38)
                12:40646723 (GRCh37)
                Canonical SPDI:
                NC_000012.12:40252920:A:C,NC_000012.12:40252920:A:G
                Gene:
                LRRK2 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                C=0.000008/2 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                NC_000012.12:g.40252921A>C, NC_000012.12:g.40252921A>G, NC_000012.11:g.40646723A>C, NC_000012.11:g.40646723A>G, NG_011709.1:g.32911A>C, NG_011709.1:g.32911A>G, NM_198578.4:c.1193A>C, NM_198578.4:c.1193A>G, NM_198578.3:c.1193A>C, NM_198578.3:c.1193A>G, XM_005268629.5:c.1193A>C, XM_005268629.5:c.1193A>G, XM_005268629.4:c.1193A>C, XM_005268629.4:c.1193A>G, XM_005268629.3:c.1193A>C, XM_005268629.3:c.1193A>G, XM_005268629.2:c.1193A>C, XM_005268629.2:c.1193A>G, XM_005268629.1:c.1193A>C, XM_005268629.1:c.1193A>G, XM_011537877.4:c.1193A>C, XM_011537877.4:c.1193A>G, XM_011537877.3:c.1193A>C, XM_011537877.3:c.1193A>G, XM_011537877.2:c.1193A>C, XM_011537877.2:c.1193A>G, XM_011537877.1:c.1193A>C, XM_011537877.1:c.1193A>G, XM_011537881.4:c.1193A>C, XM_011537881.4:c.1193A>G, XM_011537881.3:c.1193A>C, XM_011537881.3:c.1193A>G, XM_011537881.2:c.1193A>C, XM_011537881.2:c.1193A>G, XM_011537881.1:c.1193A>C, XM_011537881.1:c.1193A>G, XM_011537882.4:c.1193A>C, XM_011537882.4:c.1193A>G, XM_011537882.3:c.1193A>C, XM_011537882.3:c.1193A>G, XM_011537882.2:c.1193A>C, XM_011537882.2:c.1193A>G, XM_011537882.1:c.1193A>C, XM_011537882.1:c.1193A>G, XM_017018786.3:c.1193A>C, XM_017018786.3:c.1193A>G, XM_017018786.2:c.1193A>C, XM_017018786.2:c.1193A>G, XM_017018786.1:c.1193A>C, XM_017018786.1:c.1193A>G, XM_024448833.2:c.-11A>C, XM_024448833.2:c.-11A>G, XM_024448833.1:c.-11A>C, XM_024448833.1:c.-11A>G, XR_007063041.1:n.1328A>C, XR_007063041.1:n.1328A>G, XM_047428277.1:c.1193A>C, XM_047428277.1:c.1193A>G, XM_047428278.1:c.1193A>C, XM_047428278.1:c.1193A>G, XM_047428279.1:c.1193A>C, XM_047428279.1:c.1193A>G, NP_940980.4:p.His398Pro, NP_940980.4:p.His398Arg, XP_005268686.1:p.His398Pro, XP_005268686.1:p.His398Arg, XP_011536179.1:p.His398Pro, XP_011536179.1:p.His398Arg, XP_011536183.1:p.His398Pro, XP_011536183.1:p.His398Arg, XP_011536184.1:p.His398Pro, XP_011536184.1:p.His398Arg, XP_016874275.1:p.His398Pro, XP_016874275.1:p.His398Arg, XP_047284233.1:p.His398Pro, XP_047284233.1:p.His398Arg, XP_047284234.1:p.His398Pro, XP_047284234.1:p.His398Arg, XP_047284235.1:p.His398Pro, XP_047284235.1:p.His398Arg
                11.

                rs1481986274 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  12:40298462 (GRCh38)
                  12:40692264 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:40298461:G:C,NC_000012.12:40298461:G:T
                  Gene:
                  LRRK2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000028/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000012.12:g.40298462G>C, NC_000012.12:g.40298462G>T, NC_000012.11:g.40692264G>C, NC_000012.11:g.40692264G>T, NG_011709.1:g.78452G>C, NG_011709.1:g.78452G>T, NM_198578.4:c.3316G>C, NM_198578.4:c.3316G>T, NM_198578.3:c.3316G>C, NM_198578.3:c.3316G>T, XM_005268629.5:c.3316G>C, XM_005268629.5:c.3316G>T, XM_005268629.4:c.3316G>C, XM_005268629.4:c.3316G>T, XM_005268629.3:c.3316G>C, XM_005268629.3:c.3316G>T, XM_005268629.2:c.3316G>C, XM_005268629.2:c.3316G>T, XM_005268629.1:c.3316G>C, XM_005268629.1:c.3316G>T, XM_011537877.4:c.3316G>C, XM_011537877.4:c.3316G>T, XM_011537877.3:c.3316G>C, XM_011537877.3:c.3316G>T, XM_011537877.2:c.3316G>C, XM_011537877.2:c.3316G>T, XM_011537877.1:c.3316G>C, XM_011537877.1:c.3316G>T, XM_011537881.4:c.3316G>C, XM_011537881.4:c.3316G>T, XM_011537881.3:c.3316G>C, XM_011537881.3:c.3316G>T, XM_011537881.2:c.3316G>C, XM_011537881.2:c.3316G>T, XM_011537881.1:c.3316G>C, XM_011537881.1:c.3316G>T, XM_011537882.4:c.3316G>C, XM_011537882.4:c.3316G>T, XM_011537882.3:c.3316G>C, XM_011537882.3:c.3316G>T, XM_011537882.2:c.3316G>C, XM_011537882.2:c.3316G>T, XM_011537882.1:c.3316G>C, XM_011537882.1:c.3316G>T, XM_017018786.3:c.3316G>C, XM_017018786.3:c.3316G>T, XM_017018786.2:c.3316G>C, XM_017018786.2:c.3316G>T, XM_017018786.1:c.3316G>C, XM_017018786.1:c.3316G>T, XM_024448833.2:c.2113G>C, XM_024448833.2:c.2113G>T, XM_024448833.1:c.2113G>C, XM_024448833.1:c.2113G>T, XM_017018787.2:c.232G>C, XM_017018787.2:c.232G>T, XM_017018787.1:c.232G>C, XM_017018787.1:c.232G>T, XR_007063041.1:n.3451G>C, XR_007063041.1:n.3451G>T, XM_047428277.1:c.3316G>C, XM_047428277.1:c.3316G>T, XM_047428278.1:c.3316G>C, XM_047428278.1:c.3316G>T, XM_047428279.1:c.3316G>C, XM_047428279.1:c.3316G>T, NP_940980.4:p.Val1106Leu, NP_940980.4:p.Val1106Leu, XP_005268686.1:p.Val1106Leu, XP_005268686.1:p.Val1106Leu, XP_011536179.1:p.Val1106Leu, XP_011536179.1:p.Val1106Leu, XP_011536183.1:p.Val1106Leu, XP_011536183.1:p.Val1106Leu, XP_011536184.1:p.Val1106Leu, XP_011536184.1:p.Val1106Leu, XP_016874275.1:p.Val1106Leu, XP_016874275.1:p.Val1106Leu, XP_024304601.1:p.Val705Leu, XP_024304601.1:p.Val705Leu, XP_016874276.1:p.Val78Leu, XP_016874276.1:p.Val78Leu, XP_047284233.1:p.Val1106Leu, XP_047284233.1:p.Val1106Leu, XP_047284234.1:p.Val1106Leu, XP_047284234.1:p.Val1106Leu, XP_047284235.1:p.Val1106Leu, XP_047284235.1:p.Val1106Leu
                  14.
                  16.

                  rs1479574336 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:40252929 (GRCh38)
                    12:40646731 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:40252928:G:A
                    Gene:
                    LRRK2 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000016/4 (GnomAD_exomes)
                    A=0.000023/6 (TOPMED)
                    HGVS:
                    NC_000012.12:g.40252929G>A, NC_000012.11:g.40646731G>A, NG_011709.1:g.32919G>A, NM_198578.4:c.1201G>A, NM_198578.3:c.1201G>A, XM_005268629.5:c.1201G>A, XM_005268629.4:c.1201G>A, XM_005268629.3:c.1201G>A, XM_005268629.2:c.1201G>A, XM_005268629.1:c.1201G>A, XM_011537877.4:c.1201G>A, XM_011537877.3:c.1201G>A, XM_011537877.2:c.1201G>A, XM_011537877.1:c.1201G>A, XM_011537881.4:c.1201G>A, XM_011537881.3:c.1201G>A, XM_011537881.2:c.1201G>A, XM_011537881.1:c.1201G>A, XM_011537882.4:c.1201G>A, XM_011537882.3:c.1201G>A, XM_011537882.2:c.1201G>A, XM_011537882.1:c.1201G>A, XM_017018786.3:c.1201G>A, XM_017018786.2:c.1201G>A, XM_017018786.1:c.1201G>A, XM_024448833.2:c.-3G>A, XM_024448833.1:c.-3G>A, XR_007063041.1:n.1336G>A, XM_047428277.1:c.1201G>A, XM_047428278.1:c.1201G>A, XM_047428279.1:c.1201G>A, NP_940980.4:p.Val401Met, XP_005268686.1:p.Val401Met, XP_011536179.1:p.Val401Met, XP_011536183.1:p.Val401Met, XP_011536184.1:p.Val401Met, XP_016874275.1:p.Val401Met, XP_047284233.1:p.Val401Met, XP_047284234.1:p.Val401Met, XP_047284235.1:p.Val401Met
                    19.
                    20.

                    rs1477643098 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      12:40293578 (GRCh38)
                      12:40687380 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:40293577:C:A,NC_000012.12:40293577:C:T
                      Gene:
                      LRRK2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000012.12:g.40293578C>A, NC_000012.12:g.40293578C>T, NC_000012.11:g.40687380C>A, NC_000012.11:g.40687380C>T, NG_011709.1:g.73568C>A, NG_011709.1:g.73568C>T, NM_198578.4:c.2723C>A, NM_198578.4:c.2723C>T, NM_198578.3:c.2723C>A, NM_198578.3:c.2723C>T, XM_005268629.5:c.2723C>A, XM_005268629.5:c.2723C>T, XM_005268629.4:c.2723C>A, XM_005268629.4:c.2723C>T, XM_005268629.3:c.2723C>A, XM_005268629.3:c.2723C>T, XM_005268629.2:c.2723C>A, XM_005268629.2:c.2723C>T, XM_005268629.1:c.2723C>A, XM_005268629.1:c.2723C>T, XM_011537877.4:c.2723C>A, XM_011537877.4:c.2723C>T, XM_011537877.3:c.2723C>A, XM_011537877.3:c.2723C>T, XM_011537877.2:c.2723C>A, XM_011537877.2:c.2723C>T, XM_011537877.1:c.2723C>A, XM_011537877.1:c.2723C>T, XM_011537881.4:c.2723C>A, XM_011537881.4:c.2723C>T, XM_011537881.3:c.2723C>A, XM_011537881.3:c.2723C>T, XM_011537881.2:c.2723C>A, XM_011537881.2:c.2723C>T, XM_011537881.1:c.2723C>A, XM_011537881.1:c.2723C>T, XM_011537882.4:c.2723C>A, XM_011537882.4:c.2723C>T, XM_011537882.3:c.2723C>A, XM_011537882.3:c.2723C>T, XM_011537882.2:c.2723C>A, XM_011537882.2:c.2723C>T, XM_011537882.1:c.2723C>A, XM_011537882.1:c.2723C>T, XM_017018786.3:c.2723C>A, XM_017018786.3:c.2723C>T, XM_017018786.2:c.2723C>A, XM_017018786.2:c.2723C>T, XM_017018786.1:c.2723C>A, XM_017018786.1:c.2723C>T, XM_024448833.2:c.1520C>A, XM_024448833.2:c.1520C>T, XM_024448833.1:c.1520C>A, XM_024448833.1:c.1520C>T, XM_017018787.2:c.-144C>A, XM_017018787.2:c.-144C>T, XM_017018787.1:c.-144C>A, XM_017018787.1:c.-144C>T, XR_007063041.1:n.2858C>A, XR_007063041.1:n.2858C>T, XM_047428277.1:c.2723C>A, XM_047428277.1:c.2723C>T, XM_047428278.1:c.2723C>A, XM_047428278.1:c.2723C>T, XM_047428279.1:c.2723C>A, XM_047428279.1:c.2723C>T, NP_940980.4:p.Ser908Tyr, NP_940980.4:p.Ser908Phe, XP_005268686.1:p.Ser908Tyr, XP_005268686.1:p.Ser908Phe, XP_011536179.1:p.Ser908Tyr, XP_011536179.1:p.Ser908Phe, XP_011536183.1:p.Ser908Tyr, XP_011536183.1:p.Ser908Phe, XP_011536184.1:p.Ser908Tyr, XP_011536184.1:p.Ser908Phe, XP_016874275.1:p.Ser908Tyr, XP_016874275.1:p.Ser908Phe, XP_024304601.1:p.Ser507Tyr, XP_024304601.1:p.Ser507Phe, XP_047284233.1:p.Ser908Tyr, XP_047284233.1:p.Ser908Phe, XP_047284234.1:p.Ser908Tyr, XP_047284234.1:p.Ser908Phe, XP_047284235.1:p.Ser908Tyr, XP_047284235.1:p.Ser908Phe

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