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Items: 1 to 20 of 1313

1.

rs1489954716 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:17000308 (GRCh38)
    1:17326803 (GRCh37)
    Canonical SPDI:
    NC_000001.11:17000307:C:T
    Gene:
    ATP13A2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.17000308C>T, NC_000001.10:g.17326803C>T, NG_009054.1:g.16621G>A, NM_022089.4:c.845G>A, NM_022089.3:c.845G>A, NM_022089.2:c.845G>A, NM_001141973.3:c.830G>A, NM_001141973.2:c.830G>A, NM_001141973.1:c.830G>A, NM_001141974.3:c.830G>A, NM_001141974.2:c.830G>A, NM_001141974.1:c.830G>A, NW_025791756.1:g.1415481C>T, XM_017000844.2:c.845G>A, XM_017000844.1:c.845G>A, XM_017000845.2:c.827G>A, XM_017000845.1:c.827G>A, XM_017000846.2:c.803G>A, XM_017000846.1:c.803G>A, XM_017000847.2:c.815G>A, XM_017000847.1:c.815G>A, XM_017000848.2:c.845G>A, XM_017000848.1:c.845G>A, XM_017000849.2:c.830G>A, XM_017000849.1:c.830G>A, XM_005245810.2:c.842G>A, XM_005245810.1:c.842G>A, XM_011541128.2:c.845G>A, XM_011541128.1:c.845G>A, XM_005245811.2:c.830G>A, XM_005245811.1:c.830G>A, XM_006710512.2:c.827G>A, XM_006710512.1:c.827G>A, XM_005245812.2:c.818G>A, XM_005245812.1:c.818G>A, XM_017000850.2:c.845G>A, XM_017000850.1:c.845G>A, XM_006710513.2:c.803G>A, XM_006710513.1:c.803G>A, XM_005245815.2:c.845G>A, XM_005245815.1:c.845G>A, XM_011541129.2:c.845G>A, XM_011541129.1:c.845G>A, XM_047416546.1:c.842G>A, XM_047416547.1:c.818G>A, XM_047416548.1:c.815G>A, XM_047416550.1:c.827G>A, XM_047416551.1:c.818G>A, XM_047416553.1:c.800G>A, XM_047416556.1:c.803G>A, XM_047416560.1:c.842G>A, XM_047416562.1:c.845G>A, XM_047416565.1:c.818G>A, XM_047416539.1:c.815G>A, XM_047416538.1:c.830G>A, XM_047416567.1:c.842G>A, XM_047416542.1:c.800G>A, XM_047416568.1:c.830G>A, XM_047416569.1:c.827G>A, XM_047416570.1:c.818G>A, XM_047416571.1:c.803G>A, XM_047416554.1:c.842G>A, XM_047416564.1:c.842G>A, XM_047416566.1:c.818G>A, XM_047416549.1:c.830G>A, XM_047416537.1:c.842G>A, XM_047416563.1:c.842G>A, XM_047416544.1:c.842G>A, NP_071372.1:p.Ser282Asn, NP_001135445.1:p.Ser277Asn, NP_001135446.1:p.Ser277Asn, XP_016856333.1:p.Ser282Asn, XP_016856334.1:p.Ser276Asn, XP_016856335.1:p.Ser268Asn, XP_016856336.1:p.Ser272Asn, XP_016856337.1:p.Ser282Asn, XP_016856338.1:p.Ser277Asn, XP_005245867.1:p.Ser281Asn, XP_011539430.1:p.Ser282Asn, XP_005245868.1:p.Ser277Asn, XP_006710575.1:p.Ser276Asn, XP_005245869.1:p.Ser273Asn, XP_016856339.1:p.Ser282Asn, XP_006710576.1:p.Ser268Asn, XP_005245872.1:p.Ser282Asn, XP_011539431.1:p.Ser282Asn, XP_047272502.1:p.Ser281Asn, XP_047272503.1:p.Ser273Asn, XP_047272504.1:p.Ser272Asn, XP_047272506.1:p.Ser276Asn, XP_047272507.1:p.Ser273Asn, XP_047272509.1:p.Ser267Asn, XP_047272512.1:p.Ser268Asn, XP_047272516.1:p.Ser281Asn, XP_047272518.1:p.Ser282Asn, XP_047272521.1:p.Ser273Asn, XP_047272495.1:p.Ser272Asn, XP_047272494.1:p.Ser277Asn, XP_047272523.1:p.Ser281Asn, XP_047272498.1:p.Ser267Asn, XP_047272524.1:p.Ser277Asn, XP_047272525.1:p.Ser276Asn, XP_047272526.1:p.Ser273Asn, XP_047272527.1:p.Ser268Asn, XP_047272510.1:p.Ser281Asn, XP_047272520.1:p.Ser281Asn, XP_047272522.1:p.Ser273Asn, XP_047272505.1:p.Ser277Asn, XP_047272493.1:p.Ser281Asn, XP_047272519.1:p.Ser281Asn, XP_047272500.1:p.Ser281Asn

    2.

    rs1489609796 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:16986630 (GRCh38)
      1:17313125 (GRCh37)
      Canonical SPDI:
      NC_000001.11:16986629:G:A
      Gene:
      ATP13A2 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      HGVS:
      NC_000001.11:g.16986630G>A, NC_000001.10:g.17313125G>A, NG_009054.1:g.30299C>T, NM_022089.4:c.3238C>T, NM_022089.3:c.3238C>T, NM_022089.2:c.3238C>T, NM_001141973.3:c.3223C>T, NM_001141973.2:c.3223C>T, NM_001141973.1:c.3223C>T, NW_025791756.1:g.1401807G>A, XM_017000844.2:c.3223C>T, XM_017000844.1:c.3223C>T, XM_017000845.2:c.3220C>T, XM_017000845.1:c.3220C>T, XM_017000846.2:c.3196C>T, XM_017000846.1:c.3196C>T, XM_017000847.2:c.3193C>T, XM_017000847.1:c.3193C>T, XM_017000848.2:c.3121C>T, XM_017000848.1:c.3121C>T, XM_017000849.2:c.3106C>T, XM_017000849.1:c.3106C>T, XM_017000850.2:c.3031C>T, XM_017000850.1:c.3031C>T, XM_047416546.1:c.3220C>T, XM_047416547.1:c.3211C>T, XM_047416548.1:c.3208C>T, XM_047416550.1:c.3205C>T, XM_047416551.1:c.3196C>T, XM_047416553.1:c.3193C>T, XM_047416556.1:c.3181C>T, XM_047416560.1:c.3118C>T, XM_047416562.1:c.3106C>T, XM_047416565.1:c.3094C>T, XM_047416567.1:c.3028C>T, XM_047416568.1:c.3016C>T, XM_047416569.1:c.3013C>T, XM_047416570.1:c.3004C>T, XM_047416571.1:c.2989C>T, XM_047416549.1:c.3208C>T, XM_047416563.1:c.3103C>T, XM_047416544.1:c.3235C>T, NP_071372.1:p.Pro1080Ser, NP_001135445.1:p.Pro1075Ser, XP_016856333.1:p.Pro1075Ser, XP_016856334.1:p.Pro1074Ser, XP_016856335.1:p.Pro1066Ser, XP_016856336.1:p.Pro1065Ser, XP_016856337.1:p.Pro1041Ser, XP_016856338.1:p.Pro1036Ser, XP_016856339.1:p.Pro1011Ser, XP_047272502.1:p.Pro1074Ser, XP_047272503.1:p.Pro1071Ser, XP_047272504.1:p.Pro1070Ser, XP_047272506.1:p.Pro1069Ser, XP_047272507.1:p.Pro1066Ser, XP_047272509.1:p.Pro1065Ser, XP_047272512.1:p.Pro1061Ser, XP_047272516.1:p.Pro1040Ser, XP_047272518.1:p.Pro1036Ser, XP_047272521.1:p.Pro1032Ser, XP_047272523.1:p.Pro1010Ser, XP_047272524.1:p.Pro1006Ser, XP_047272525.1:p.Pro1005Ser, XP_047272526.1:p.Pro1002Ser, XP_047272527.1:p.Pro997Ser, XP_047272505.1:p.Pro1070Ser, XP_047272519.1:p.Pro1035Ser, XP_047272500.1:p.Pro1079Ser

      3.

      rs1489218790 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:16986347 (GRCh38)
        1:17312842 (GRCh37)
        Canonical SPDI:
        NC_000001.11:16986346:G:A
        Gene:
        ATP13A2 (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.16986347G>A, NC_000001.10:g.17312842G>A, NG_009054.1:g.30582C>T, NM_022089.4:c.3417C>T, NM_022089.3:c.3417C>T, NM_022089.2:c.3417C>T, NM_001141973.3:c.3402C>T, NM_001141973.2:c.3402C>T, NM_001141973.1:c.3402C>T, NM_001141974.3:c.3115C>T, NM_001141974.2:c.3115C>T, NM_001141974.1:c.3115C>T, NG_029688.1:g.240C>T, NW_025791756.1:g.1401524G>A, XM_017000844.2:c.3402C>T, XM_017000844.1:c.3402C>T, XM_017000845.2:c.3399C>T, XM_017000845.1:c.3399C>T, XM_017000846.2:c.3375C>T, XM_017000846.1:c.3375C>T, XM_017000847.2:c.3372C>T, XM_017000847.1:c.3372C>T, XM_017000848.2:c.3300C>T, XM_017000848.1:c.3300C>T, XM_017000849.2:c.3285C>T, XM_017000849.1:c.3285C>T, XM_005245810.2:c.3244C>T, XM_005245810.1:c.3244C>T, XM_011541128.2:c.3232C>T, XM_011541128.1:c.3232C>T, XM_005245811.2:c.3232C>T, XM_005245811.1:c.3232C>T, XM_006710512.2:c.3229C>T, XM_006710512.1:c.3229C>T, XM_005245812.2:c.3220C>T, XM_005245812.1:c.3220C>T, XM_017000850.2:c.3210C>T, XM_017000850.1:c.3210C>T, XM_006710513.2:c.3205C>T, XM_006710513.1:c.3205C>T, XM_047416565.1:c.3273C>T, XM_047416538.1:c.3217C>T, XM_005245815.2:c.3130C>T, XM_005245815.1:c.3130C>T, XM_011541129.2:c.3040C>T, XM_011541129.1:c.3040C>T, XM_047416544.1:c.3414C>T, XM_047416546.1:c.3399C>T, XM_047416548.1:c.3387C>T, XM_047416550.1:c.3384C>T, XM_047416551.1:c.3375C>T, XM_047416553.1:c.3372C>T, XM_047416556.1:c.3360C>T, XM_047416560.1:c.3297C>T, XM_047416562.1:c.3285C>T, XM_047416563.1:c.3282C>T, XM_047416537.1:c.3229C>T, XM_047416539.1:c.3217C>T, XM_047416567.1:c.3207C>T, XM_047416542.1:c.3202C>T, XM_047416568.1:c.3195C>T, XM_047416569.1:c.3192C>T, XM_047416570.1:c.3183C>T, XM_047416571.1:c.3168C>T, XM_047416554.1:c.3127C>T, XM_047416564.1:c.3037C>T, XM_047416566.1:c.3013C>T, XM_047416549.1:c.3387C>T, XM_047416547.1:c.3390C>T, NP_001135446.1:p.Pro1039Ser, XP_005245867.1:p.Pro1082Ser, XP_011539430.1:p.Pro1078Ser, XP_005245868.1:p.Pro1078Ser, XP_006710575.1:p.Pro1077Ser, XP_005245869.1:p.Pro1074Ser, XP_006710576.1:p.Pro1069Ser, XP_047272494.1:p.Pro1073Ser, XP_005245872.1:p.Pro1044Ser, XP_011539431.1:p.Pro1014Ser, XP_047272493.1:p.Pro1077Ser, XP_047272495.1:p.Pro1073Ser, XP_047272498.1:p.Pro1068Ser, XP_047272510.1:p.Pro1043Ser, XP_047272520.1:p.Pro1013Ser, XP_047272522.1:p.Pro1005Ser

        4.

        rs1488939495 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:16986572 (GRCh38)
          1:17313067 (GRCh37)
          Canonical SPDI:
          NC_000001.11:16986571:G:A
          Gene:
          ATP13A2 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          HGVS:
          NC_000001.11:g.16986572G>A, NC_000001.10:g.17313067G>A, NG_009054.1:g.30357C>T, NM_022089.4:c.3296C>T, NM_022089.3:c.3296C>T, NM_022089.2:c.3296C>T, NM_001141973.3:c.3281C>T, NM_001141973.2:c.3281C>T, NM_001141973.1:c.3281C>T, NG_029688.1:g.15C>T, NW_025791756.1:g.1401749G>A, XM_017000844.2:c.3281C>T, XM_017000844.1:c.3281C>T, XM_017000845.2:c.3278C>T, XM_017000845.1:c.3278C>T, XM_017000846.2:c.3254C>T, XM_017000846.1:c.3254C>T, XM_017000847.2:c.3251C>T, XM_017000847.1:c.3251C>T, XM_017000848.2:c.3179C>T, XM_017000848.1:c.3179C>T, XM_017000849.2:c.3164C>T, XM_017000849.1:c.3164C>T, XM_017000850.2:c.3089C>T, XM_017000850.1:c.3089C>T, XM_047416565.1:c.3152C>T, XM_047416544.1:c.3293C>T, XM_047416546.1:c.3278C>T, XM_047416548.1:c.3266C>T, XM_047416550.1:c.3263C>T, XM_047416551.1:c.3254C>T, XM_047416553.1:c.3251C>T, XM_047416556.1:c.3239C>T, XM_047416560.1:c.3176C>T, XM_047416562.1:c.3164C>T, XM_047416563.1:c.3161C>T, XM_047416567.1:c.3086C>T, XM_047416568.1:c.3074C>T, XM_047416569.1:c.3071C>T, XM_047416570.1:c.3062C>T, XM_047416571.1:c.3047C>T, XM_047416549.1:c.3266C>T, XM_047416547.1:c.3269C>T, NP_071372.1:p.Pro1099Leu, NP_001135445.1:p.Pro1094Leu, XP_016856333.1:p.Pro1094Leu, XP_016856334.1:p.Pro1093Leu, XP_016856335.1:p.Pro1085Leu, XP_016856336.1:p.Pro1084Leu, XP_016856337.1:p.Pro1060Leu, XP_016856338.1:p.Pro1055Leu, XP_016856339.1:p.Pro1030Leu, XP_047272521.1:p.Pro1051Leu, XP_047272500.1:p.Pro1098Leu, XP_047272502.1:p.Pro1093Leu, XP_047272504.1:p.Pro1089Leu, XP_047272506.1:p.Pro1088Leu, XP_047272507.1:p.Pro1085Leu, XP_047272509.1:p.Pro1084Leu, XP_047272512.1:p.Pro1080Leu, XP_047272516.1:p.Pro1059Leu, XP_047272518.1:p.Pro1055Leu, XP_047272519.1:p.Pro1054Leu, XP_047272523.1:p.Pro1029Leu, XP_047272524.1:p.Pro1025Leu, XP_047272525.1:p.Pro1024Leu, XP_047272526.1:p.Pro1021Leu, XP_047272527.1:p.Pro1016Leu, XP_047272505.1:p.Pro1089Leu, XP_047272503.1:p.Pro1090Leu

          5.

          rs1488075785 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            1:17002051 (GRCh38)
            1:17328546 (GRCh37)
            Canonical SPDI:
            NC_000001.11:17002050:GGGGG:GGGG
            Gene:
            ATP13A2 (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.17002055del, NC_000001.10:g.17328550del, NG_009054.1:g.14878del, NM_022089.4:c.688del, NM_022089.3:c.688del, NM_022089.2:c.688del, NM_001141973.3:c.673del, NM_001141973.2:c.673del, NM_001141973.1:c.673del, NM_001141974.3:c.673del, NM_001141974.2:c.673del, NM_001141974.1:c.673del, NW_025791756.1:g.1417236del, XM_017000844.2:c.688del, XM_017000844.1:c.688del, XM_017000845.2:c.670del, XM_017000845.1:c.670del, XM_017000846.2:c.673del, XM_017000846.1:c.673del, XM_017000847.2:c.685del, XM_017000847.1:c.685del, XM_017000848.2:c.688del, XM_017000848.1:c.688del, XM_017000849.2:c.673del, XM_017000849.1:c.673del, XM_005245810.2:c.685del, XM_005245810.1:c.685del, XM_011541128.2:c.688del, XM_011541128.1:c.688del, XM_005245811.2:c.673del, XM_005245811.1:c.673del, XM_006710512.2:c.670del, XM_006710512.1:c.670del, XM_005245812.2:c.688del, XM_005245812.1:c.688del, XM_017000850.2:c.688del, XM_017000850.1:c.688del, XM_006710513.2:c.673del, XM_006710513.1:c.673del, XM_005245815.2:c.688del, XM_005245815.1:c.688del, XM_011541129.2:c.688del, XM_011541129.1:c.688del, XM_047416546.1:c.685del, XM_047416547.1:c.688del, XM_047416548.1:c.685del, XM_047416550.1:c.670del, XM_047416551.1:c.688del, XM_047416553.1:c.670del, XM_047416556.1:c.673del, XM_047416560.1:c.685del, XM_047416562.1:c.688del, XM_047416565.1:c.688del, XM_047416539.1:c.685del, XM_047416538.1:c.673del, XM_047416567.1:c.685del, XM_047416542.1:c.670del, XM_047416568.1:c.673del, XM_047416569.1:c.670del, XM_047416570.1:c.688del, XM_047416571.1:c.673del, XM_047416554.1:c.685del, XM_047416564.1:c.685del, XM_047416566.1:c.688del, XM_047416549.1:c.673del, XM_047416537.1:c.685del, XM_047416563.1:c.685del, XM_047416544.1:c.685del, NP_071372.1:p.Gln230fs, NP_001135445.1:p.Gln225fs, NP_001135446.1:p.Gln225fs, XP_016856333.1:p.Gln230fs, XP_016856334.1:p.Gln224fs, XP_016856335.1:p.Gln225fs, XP_016856336.1:p.Gln229fs, XP_016856337.1:p.Gln230fs, XP_016856338.1:p.Gln225fs, XP_005245867.1:p.Gln229fs, XP_011539430.1:p.Gln230fs, XP_005245868.1:p.Gln225fs, XP_006710575.1:p.Gln224fs, XP_005245869.1:p.Gln230fs, XP_016856339.1:p.Gln230fs, XP_006710576.1:p.Gln225fs, XP_005245872.1:p.Gln230fs, XP_011539431.1:p.Gln230fs, XP_047272502.1:p.Gln229fs, XP_047272503.1:p.Gln230fs, XP_047272504.1:p.Gln229fs, XP_047272506.1:p.Gln224fs, XP_047272507.1:p.Gln230fs, XP_047272509.1:p.Gln224fs, XP_047272512.1:p.Gln225fs, XP_047272516.1:p.Gln229fs, XP_047272518.1:p.Gln230fs, XP_047272521.1:p.Gln230fs, XP_047272495.1:p.Gln229fs, XP_047272494.1:p.Gln225fs, XP_047272523.1:p.Gln229fs, XP_047272498.1:p.Gln224fs, XP_047272524.1:p.Gln225fs, XP_047272525.1:p.Gln224fs, XP_047272526.1:p.Gln230fs, XP_047272527.1:p.Gln225fs, XP_047272510.1:p.Gln229fs, XP_047272520.1:p.Gln229fs, XP_047272522.1:p.Gln230fs, XP_047272505.1:p.Gln225fs, XP_047272493.1:p.Gln229fs, XP_047272519.1:p.Gln229fs, XP_047272500.1:p.Gln229fs

            6.

            rs1487807472 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:17005393 (GRCh38)
              1:17331888 (GRCh37)
              Canonical SPDI:
              NC_000001.11:17005392:A:G
              Gene:
              ATP13A2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.17005393A>G, NC_000001.10:g.17331888A>G, NG_009054.1:g.11536T>C, NM_022089.4:c.269T>C, NM_022089.3:c.269T>C, NM_022089.2:c.269T>C, NM_001141973.3:c.269T>C, NM_001141973.2:c.269T>C, NM_001141973.1:c.269T>C, NM_001141974.3:c.269T>C, NM_001141974.2:c.269T>C, NM_001141974.1:c.269T>C, NW_025791756.1:g.1420576A>G, XM_017000844.2:c.269T>C, XM_017000844.1:c.269T>C, XM_017000845.2:c.269T>C, XM_017000845.1:c.269T>C, XM_017000846.2:c.269T>C, XM_017000846.1:c.269T>C, XM_017000847.2:c.269T>C, XM_017000847.1:c.269T>C, XM_017000848.2:c.269T>C, XM_017000848.1:c.269T>C, XM_017000849.2:c.269T>C, XM_017000849.1:c.269T>C, XM_005245810.2:c.269T>C, XM_005245810.1:c.269T>C, XM_011541128.2:c.269T>C, XM_011541128.1:c.269T>C, XM_005245811.2:c.269T>C, XM_005245811.1:c.269T>C, XM_006710512.2:c.269T>C, XM_006710512.1:c.269T>C, XM_005245812.2:c.269T>C, XM_005245812.1:c.269T>C, XM_017000850.2:c.269T>C, XM_017000850.1:c.269T>C, XM_006710513.2:c.269T>C, XM_006710513.1:c.269T>C, XM_005245815.2:c.269T>C, XM_005245815.1:c.269T>C, XM_011541129.2:c.269T>C, XM_011541129.1:c.269T>C, XM_047416546.1:c.269T>C, XM_047416547.1:c.269T>C, XM_047416548.1:c.269T>C, XM_047416550.1:c.269T>C, XM_047416551.1:c.269T>C, XM_047416553.1:c.269T>C, XM_047416556.1:c.269T>C, XM_047416560.1:c.269T>C, XM_047416562.1:c.269T>C, XM_047416565.1:c.269T>C, XM_047416539.1:c.269T>C, XM_047416538.1:c.269T>C, XM_047416567.1:c.269T>C, XM_047416542.1:c.269T>C, XM_047416568.1:c.269T>C, XM_047416569.1:c.269T>C, XM_047416570.1:c.269T>C, XM_047416571.1:c.269T>C, XM_047416554.1:c.269T>C, XM_047416564.1:c.269T>C, XM_047416566.1:c.269T>C, XM_047416549.1:c.269T>C, XM_047416537.1:c.269T>C, XM_047416563.1:c.269T>C, XM_047416544.1:c.269T>C, NP_071372.1:p.Ile90Thr, NP_001135445.1:p.Ile90Thr, NP_001135446.1:p.Ile90Thr, XP_016856333.1:p.Ile90Thr, XP_016856334.1:p.Ile90Thr, XP_016856335.1:p.Ile90Thr, XP_016856336.1:p.Ile90Thr, XP_016856337.1:p.Ile90Thr, XP_016856338.1:p.Ile90Thr, XP_005245867.1:p.Ile90Thr, XP_011539430.1:p.Ile90Thr, XP_005245868.1:p.Ile90Thr, XP_006710575.1:p.Ile90Thr, XP_005245869.1:p.Ile90Thr, XP_016856339.1:p.Ile90Thr, XP_006710576.1:p.Ile90Thr, XP_005245872.1:p.Ile90Thr, XP_011539431.1:p.Ile90Thr, XP_047272502.1:p.Ile90Thr, XP_047272503.1:p.Ile90Thr, XP_047272504.1:p.Ile90Thr, XP_047272506.1:p.Ile90Thr, XP_047272507.1:p.Ile90Thr, XP_047272509.1:p.Ile90Thr, XP_047272512.1:p.Ile90Thr, XP_047272516.1:p.Ile90Thr, XP_047272518.1:p.Ile90Thr, XP_047272521.1:p.Ile90Thr, XP_047272495.1:p.Ile90Thr, XP_047272494.1:p.Ile90Thr, XP_047272523.1:p.Ile90Thr, XP_047272498.1:p.Ile90Thr, XP_047272524.1:p.Ile90Thr, XP_047272525.1:p.Ile90Thr, XP_047272526.1:p.Ile90Thr, XP_047272527.1:p.Ile90Thr, XP_047272510.1:p.Ile90Thr, XP_047272520.1:p.Ile90Thr, XP_047272522.1:p.Ile90Thr, XP_047272505.1:p.Ile90Thr, XP_047272493.1:p.Ile90Thr, XP_047272519.1:p.Ile90Thr, XP_047272500.1:p.Ile90Thr

              7.

              rs1487644549 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:16987184 (GRCh38)
                1:17313679 (GRCh37)
                Canonical SPDI:
                NC_000001.11:16987183:C:T
                Gene:
                ATP13A2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                NC_000001.11:g.16987184C>T, NC_000001.10:g.17313679C>T, NG_009054.1:g.29745G>A, NM_022089.4:c.2945G>A, NM_022089.3:c.2945G>A, NM_022089.2:c.2945G>A, NM_001141973.3:c.2930G>A, NM_001141973.2:c.2930G>A, NM_001141973.1:c.2930G>A, NM_001141974.3:c.2813G>A, NM_001141974.2:c.2813G>A, NM_001141974.1:c.2813G>A, NW_025791756.1:g.1402361C>T, XM_017000844.2:c.2930G>A, XM_017000844.1:c.2930G>A, XM_017000845.2:c.2927G>A, XM_017000845.1:c.2927G>A, XM_017000846.2:c.2903G>A, XM_017000846.1:c.2903G>A, XM_017000847.2:c.2900G>A, XM_017000847.1:c.2900G>A, XM_017000848.2:c.2828G>A, XM_017000848.1:c.2828G>A, XM_017000849.2:c.2813G>A, XM_017000849.1:c.2813G>A, XM_005245810.2:c.2942G>A, XM_005245810.1:c.2942G>A, XM_011541128.2:c.2930G>A, XM_011541128.1:c.2930G>A, XM_005245811.2:c.2930G>A, XM_005245811.1:c.2930G>A, XM_006710512.2:c.2927G>A, XM_006710512.1:c.2927G>A, XM_005245812.2:c.2918G>A, XM_005245812.1:c.2918G>A, XM_017000850.2:c.2738G>A, XM_017000850.1:c.2738G>A, XM_006710513.2:c.2903G>A, XM_006710513.1:c.2903G>A, XM_005245815.2:c.2828G>A, XM_005245815.1:c.2828G>A, XM_011541129.2:c.2738G>A, XM_011541129.1:c.2738G>A, XM_047416546.1:c.2927G>A, XM_047416547.1:c.2918G>A, XM_047416548.1:c.2915G>A, XM_047416550.1:c.2912G>A, XM_047416551.1:c.2903G>A, XM_047416553.1:c.2900G>A, XM_047416556.1:c.2888G>A, XM_047416560.1:c.2825G>A, XM_047416562.1:c.2813G>A, XM_047416565.1:c.2801G>A, XM_047416539.1:c.2915G>A, XM_047416538.1:c.2915G>A, XM_047416567.1:c.2735G>A, XM_047416542.1:c.2900G>A, XM_047416568.1:c.2723G>A, XM_047416569.1:c.2720G>A, XM_047416570.1:c.2711G>A, XM_047416571.1:c.2696G>A, XM_047416554.1:c.2825G>A, XM_047416564.1:c.2735G>A, XM_047416566.1:c.2711G>A, XM_047416549.1:c.2915G>A, XM_047416537.1:c.2927G>A, XM_047416563.1:c.2810G>A, XM_047416544.1:c.2942G>A, NP_071372.1:p.Gly982Glu, NP_001135445.1:p.Gly977Glu, NP_001135446.1:p.Gly938Glu, XP_016856333.1:p.Gly977Glu, XP_016856334.1:p.Gly976Glu, XP_016856335.1:p.Gly968Glu, XP_016856336.1:p.Gly967Glu, XP_016856337.1:p.Gly943Glu, XP_016856338.1:p.Gly938Glu, XP_005245867.1:p.Gly981Glu, XP_011539430.1:p.Gly977Glu, XP_005245868.1:p.Gly977Glu, XP_006710575.1:p.Gly976Glu, XP_005245869.1:p.Gly973Glu, XP_016856339.1:p.Gly913Glu, XP_006710576.1:p.Gly968Glu, XP_005245872.1:p.Gly943Glu, XP_011539431.1:p.Gly913Glu, XP_047272502.1:p.Gly976Glu, XP_047272503.1:p.Gly973Glu, XP_047272504.1:p.Gly972Glu, XP_047272506.1:p.Gly971Glu, XP_047272507.1:p.Gly968Glu, XP_047272509.1:p.Gly967Glu, XP_047272512.1:p.Gly963Glu, XP_047272516.1:p.Gly942Glu, XP_047272518.1:p.Gly938Glu, XP_047272521.1:p.Gly934Glu, XP_047272495.1:p.Gly972Glu, XP_047272494.1:p.Gly972Glu, XP_047272523.1:p.Gly912Glu, XP_047272498.1:p.Gly967Glu, XP_047272524.1:p.Gly908Glu, XP_047272525.1:p.Gly907Glu, XP_047272526.1:p.Gly904Glu, XP_047272527.1:p.Gly899Glu, XP_047272510.1:p.Gly942Glu, XP_047272520.1:p.Gly912Glu, XP_047272522.1:p.Gly904Glu, XP_047272505.1:p.Gly972Glu, XP_047272493.1:p.Gly976Glu, XP_047272519.1:p.Gly937Glu, XP_047272500.1:p.Gly981Glu

                8.

                rs1487203657 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:16990189 (GRCh38)
                  1:17316684 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:16990188:C:T
                  Gene:
                  ATP13A2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.16990189C>T, NC_000001.10:g.17316684C>T, NG_009054.1:g.26740G>A, NM_022089.4:c.2350G>A, NM_022089.3:c.2350G>A, NM_022089.2:c.2350G>A, NM_001141973.3:c.2335G>A, NM_001141973.2:c.2335G>A, NM_001141973.1:c.2335G>A, NM_001141974.3:c.2335G>A, NM_001141974.2:c.2335G>A, NM_001141974.1:c.2335G>A, NW_025791756.1:g.1405366C>T, XM_017000844.2:c.2335G>A, XM_017000844.1:c.2335G>A, XM_017000845.2:c.2332G>A, XM_017000845.1:c.2332G>A, XM_017000846.2:c.2308G>A, XM_017000846.1:c.2308G>A, XM_017000847.2:c.2305G>A, XM_017000847.1:c.2305G>A, XM_017000848.2:c.2350G>A, XM_017000848.1:c.2350G>A, XM_017000849.2:c.2335G>A, XM_017000849.1:c.2335G>A, XM_005245810.2:c.2347G>A, XM_005245810.1:c.2347G>A, XM_011541128.2:c.2335G>A, XM_011541128.1:c.2335G>A, XM_005245811.2:c.2335G>A, XM_005245811.1:c.2335G>A, XM_006710512.2:c.2332G>A, XM_006710512.1:c.2332G>A, XM_005245812.2:c.2323G>A, XM_005245812.1:c.2323G>A, XM_017000850.2:c.2143G>A, XM_017000850.1:c.2143G>A, XM_006710513.2:c.2308G>A, XM_006710513.1:c.2308G>A, XM_005245815.2:c.2350G>A, XM_005245815.1:c.2350G>A, XM_011541129.2:c.2143G>A, XM_011541129.1:c.2143G>A, XM_047416546.1:c.2332G>A, XM_047416547.1:c.2323G>A, XM_047416548.1:c.2320G>A, XM_047416550.1:c.2317G>A, XM_047416551.1:c.2308G>A, XM_047416553.1:c.2305G>A, XM_047416556.1:c.2293G>A, XM_047416560.1:c.2347G>A, XM_047416562.1:c.2335G>A, XM_047416565.1:c.2323G>A, XM_047416539.1:c.2320G>A, XM_047416538.1:c.2320G>A, XM_047416567.1:c.2140G>A, XM_047416542.1:c.2305G>A, XM_047416568.1:c.2128G>A, XM_047416569.1:c.2125G>A, XM_047416570.1:c.2116G>A, XM_047416571.1:c.2101G>A, XM_047416554.1:c.2347G>A, XM_047416564.1:c.2140G>A, XM_047416566.1:c.2116G>A, XM_047416549.1:c.2320G>A, XM_047416537.1:c.2332G>A, XM_047416563.1:c.2332G>A, XM_047416544.1:c.2347G>A, NP_071372.1:p.Gly784Ser, NP_001135445.1:p.Gly779Ser, NP_001135446.1:p.Gly779Ser, XP_016856333.1:p.Gly779Ser, XP_016856334.1:p.Gly778Ser, XP_016856335.1:p.Gly770Ser, XP_016856336.1:p.Gly769Ser, XP_016856337.1:p.Gly784Ser, XP_016856338.1:p.Gly779Ser, XP_005245867.1:p.Gly783Ser, XP_011539430.1:p.Gly779Ser, XP_005245868.1:p.Gly779Ser, XP_006710575.1:p.Gly778Ser, XP_005245869.1:p.Gly775Ser, XP_016856339.1:p.Gly715Ser, XP_006710576.1:p.Gly770Ser, XP_005245872.1:p.Gly784Ser, XP_011539431.1:p.Gly715Ser, XP_047272502.1:p.Gly778Ser, XP_047272503.1:p.Gly775Ser, XP_047272504.1:p.Gly774Ser, XP_047272506.1:p.Gly773Ser, XP_047272507.1:p.Gly770Ser, XP_047272509.1:p.Gly769Ser, XP_047272512.1:p.Gly765Ser, XP_047272516.1:p.Gly783Ser, XP_047272518.1:p.Gly779Ser, XP_047272521.1:p.Gly775Ser, XP_047272495.1:p.Gly774Ser, XP_047272494.1:p.Gly774Ser, XP_047272523.1:p.Gly714Ser, XP_047272498.1:p.Gly769Ser, XP_047272524.1:p.Gly710Ser, XP_047272525.1:p.Gly709Ser, XP_047272526.1:p.Gly706Ser, XP_047272527.1:p.Gly701Ser, XP_047272510.1:p.Gly783Ser, XP_047272520.1:p.Gly714Ser, XP_047272522.1:p.Gly706Ser, XP_047272505.1:p.Gly774Ser, XP_047272493.1:p.Gly778Ser, XP_047272519.1:p.Gly778Ser, XP_047272500.1:p.Gly783Ser

                  9.

                  rs1486998007 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:16990141 (GRCh38)
                    1:17316636 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:16990140:C:T
                    Gene:
                    ATP13A2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (KOREAN)
                    T=0.000004/1 (TOPMED)
                    T=0.000008/2 (GnomAD_exomes)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000001.11:g.16990141C>T, NC_000001.10:g.17316636C>T, NG_009054.1:g.26788G>A, NM_022089.4:c.2398G>A, NM_022089.3:c.2398G>A, NM_022089.2:c.2398G>A, NM_001141973.3:c.2383G>A, NM_001141973.2:c.2383G>A, NM_001141973.1:c.2383G>A, NM_001141974.3:c.2383G>A, NM_001141974.2:c.2383G>A, NM_001141974.1:c.2383G>A, NW_025791756.1:g.1405318C>T, XM_017000844.2:c.2383G>A, XM_017000844.1:c.2383G>A, XM_017000845.2:c.2380G>A, XM_017000845.1:c.2380G>A, XM_017000846.2:c.2356G>A, XM_017000846.1:c.2356G>A, XM_017000847.2:c.2353G>A, XM_017000847.1:c.2353G>A, XM_017000848.2:c.2398G>A, XM_017000848.1:c.2398G>A, XM_017000849.2:c.2383G>A, XM_017000849.1:c.2383G>A, XM_005245810.2:c.2395G>A, XM_005245810.1:c.2395G>A, XM_011541128.2:c.2383G>A, XM_011541128.1:c.2383G>A, XM_005245811.2:c.2383G>A, XM_005245811.1:c.2383G>A, XM_006710512.2:c.2380G>A, XM_006710512.1:c.2380G>A, XM_005245812.2:c.2371G>A, XM_005245812.1:c.2371G>A, XM_017000850.2:c.2191G>A, XM_017000850.1:c.2191G>A, XM_006710513.2:c.2356G>A, XM_006710513.1:c.2356G>A, XM_005245815.2:c.2398G>A, XM_005245815.1:c.2398G>A, XM_011541129.2:c.2191G>A, XM_011541129.1:c.2191G>A, XM_047416546.1:c.2380G>A, XM_047416547.1:c.2371G>A, XM_047416548.1:c.2368G>A, XM_047416550.1:c.2365G>A, XM_047416551.1:c.2356G>A, XM_047416553.1:c.2353G>A, XM_047416556.1:c.2341G>A, XM_047416560.1:c.2395G>A, XM_047416562.1:c.2383G>A, XM_047416565.1:c.2371G>A, XM_047416539.1:c.2368G>A, XM_047416538.1:c.2368G>A, XM_047416567.1:c.2188G>A, XM_047416542.1:c.2353G>A, XM_047416568.1:c.2176G>A, XM_047416569.1:c.2173G>A, XM_047416570.1:c.2164G>A, XM_047416571.1:c.2149G>A, XM_047416554.1:c.2395G>A, XM_047416564.1:c.2188G>A, XM_047416566.1:c.2164G>A, XM_047416549.1:c.2368G>A, XM_047416537.1:c.2380G>A, XM_047416563.1:c.2380G>A, XM_047416544.1:c.2395G>A, NP_071372.1:p.Val800Met, NP_001135445.1:p.Val795Met, NP_001135446.1:p.Val795Met, XP_016856333.1:p.Val795Met, XP_016856334.1:p.Val794Met, XP_016856335.1:p.Val786Met, XP_016856336.1:p.Val785Met, XP_016856337.1:p.Val800Met, XP_016856338.1:p.Val795Met, XP_005245867.1:p.Val799Met, XP_011539430.1:p.Val795Met, XP_005245868.1:p.Val795Met, XP_006710575.1:p.Val794Met, XP_005245869.1:p.Val791Met, XP_016856339.1:p.Val731Met, XP_006710576.1:p.Val786Met, XP_005245872.1:p.Val800Met, XP_011539431.1:p.Val731Met, XP_047272502.1:p.Val794Met, XP_047272503.1:p.Val791Met, XP_047272504.1:p.Val790Met, XP_047272506.1:p.Val789Met, XP_047272507.1:p.Val786Met, XP_047272509.1:p.Val785Met, XP_047272512.1:p.Val781Met, XP_047272516.1:p.Val799Met, XP_047272518.1:p.Val795Met, XP_047272521.1:p.Val791Met, XP_047272495.1:p.Val790Met, XP_047272494.1:p.Val790Met, XP_047272523.1:p.Val730Met, XP_047272498.1:p.Val785Met, XP_047272524.1:p.Val726Met, XP_047272525.1:p.Val725Met, XP_047272526.1:p.Val722Met, XP_047272527.1:p.Val717Met, XP_047272510.1:p.Val799Met, XP_047272520.1:p.Val730Met, XP_047272522.1:p.Val722Met, XP_047272505.1:p.Val790Met, XP_047272493.1:p.Val794Met, XP_047272519.1:p.Val794Met, XP_047272500.1:p.Val799Met

                    10.

                    rs1486153458 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GG>- [Show Flanks]
                      Chromosome:
                      1:16990151 (GRCh38)
                      1:17316646 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:16990147:GGGGG:GGG
                      Gene:
                      ATP13A2 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GGG=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.16990151_16990152del, NC_000001.10:g.17316646_17316647del, NG_009054.1:g.26780_26781del, NM_022089.4:c.2390_2391del, NM_022089.3:c.2390_2391del, NM_022089.2:c.2390_2391del, NM_001141973.3:c.2375_2376del, NM_001141973.2:c.2375_2376del, NM_001141973.1:c.2375_2376del, NM_001141974.3:c.2375_2376del, NM_001141974.2:c.2375_2376del, NM_001141974.1:c.2375_2376del, NW_025791756.1:g.1405328_1405329del, XM_017000844.2:c.2375_2376del, XM_017000844.1:c.2375_2376del, XM_017000845.2:c.2372_2373del, XM_017000845.1:c.2372_2373del, XM_017000846.2:c.2348_2349del, XM_017000846.1:c.2348_2349del, XM_017000847.2:c.2345_2346del, XM_017000847.1:c.2345_2346del, XM_017000848.2:c.2390_2391del, XM_017000848.1:c.2390_2391del, XM_017000849.2:c.2375_2376del, XM_017000849.1:c.2375_2376del, XM_005245810.2:c.2387_2388del, XM_005245810.1:c.2387_2388del, XM_011541128.2:c.2375_2376del, XM_011541128.1:c.2375_2376del, XM_005245811.2:c.2375_2376del, XM_005245811.1:c.2375_2376del, XM_006710512.2:c.2372_2373del, XM_006710512.1:c.2372_2373del, XM_005245812.2:c.2363_2364del, XM_005245812.1:c.2363_2364del, XM_017000850.2:c.2183_2184del, XM_017000850.1:c.2183_2184del, XM_006710513.2:c.2348_2349del, XM_006710513.1:c.2348_2349del, XM_005245815.2:c.2390_2391del, XM_005245815.1:c.2390_2391del, XM_011541129.2:c.2183_2184del, XM_011541129.1:c.2183_2184del, XM_047416546.1:c.2372_2373del, XM_047416547.1:c.2363_2364del, XM_047416548.1:c.2360_2361del, XM_047416550.1:c.2357_2358del, XM_047416551.1:c.2348_2349del, XM_047416553.1:c.2345_2346del, XM_047416556.1:c.2333_2334del, XM_047416560.1:c.2387_2388del, XM_047416562.1:c.2375_2376del, XM_047416565.1:c.2363_2364del, XM_047416539.1:c.2360_2361del, XM_047416538.1:c.2360_2361del, XM_047416567.1:c.2180_2181del, XM_047416542.1:c.2345_2346del, XM_047416568.1:c.2168_2169del, XM_047416569.1:c.2165_2166del, XM_047416570.1:c.2156_2157del, XM_047416571.1:c.2141_2142del, XM_047416554.1:c.2387_2388del, XM_047416564.1:c.2180_2181del, XM_047416566.1:c.2156_2157del, XM_047416549.1:c.2360_2361del, XM_047416537.1:c.2372_2373del, XM_047416563.1:c.2372_2373del, XM_047416544.1:c.2387_2388del, NP_071372.1:p.Pro797fs, NP_001135445.1:p.Pro792fs, NP_001135446.1:p.Pro792fs, XP_016856333.1:p.Pro792fs, XP_016856334.1:p.Pro791fs, XP_016856335.1:p.Pro783fs, XP_016856336.1:p.Pro782fs, XP_016856337.1:p.Pro797fs, XP_016856338.1:p.Pro792fs, XP_005245867.1:p.Pro796fs, XP_011539430.1:p.Pro792fs, XP_005245868.1:p.Pro792fs, XP_006710575.1:p.Pro791fs, XP_005245869.1:p.Pro788fs, XP_016856339.1:p.Pro728fs, XP_006710576.1:p.Pro783fs, XP_005245872.1:p.Pro797fs, XP_011539431.1:p.Pro728fs, XP_047272502.1:p.Pro791fs, XP_047272503.1:p.Pro788fs, XP_047272504.1:p.Pro787fs, XP_047272506.1:p.Pro786fs, XP_047272507.1:p.Pro783fs, XP_047272509.1:p.Pro782fs, XP_047272512.1:p.Pro778fs, XP_047272516.1:p.Pro796fs, XP_047272518.1:p.Pro792fs, XP_047272521.1:p.Pro788fs, XP_047272495.1:p.Pro787fs, XP_047272494.1:p.Pro787fs, XP_047272523.1:p.Pro727fs, XP_047272498.1:p.Pro782fs, XP_047272524.1:p.Pro723fs, XP_047272525.1:p.Pro722fs, XP_047272526.1:p.Pro719fs, XP_047272527.1:p.Pro714fs, XP_047272510.1:p.Pro796fs, XP_047272520.1:p.Pro727fs, XP_047272522.1:p.Pro719fs, XP_047272505.1:p.Pro787fs, XP_047272493.1:p.Pro791fs, XP_047272519.1:p.Pro791fs, XP_047272500.1:p.Pro796fs

                      11.

                      rs1485629497 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:17000254 (GRCh38)
                        1:17326749 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:17000253:G:A
                        Gene:
                        ATP13A2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000001.11:g.17000254G>A, NC_000001.10:g.17326749G>A, NG_009054.1:g.16675C>T, NM_022089.4:c.899C>T, NM_022089.3:c.899C>T, NM_022089.2:c.899C>T, NM_001141973.3:c.884C>T, NM_001141973.2:c.884C>T, NM_001141973.1:c.884C>T, NM_001141974.3:c.884C>T, NM_001141974.2:c.884C>T, NM_001141974.1:c.884C>T, NW_025791756.1:g.1415427G>A, XM_017000844.2:c.899C>T, XM_017000844.1:c.899C>T, XM_017000845.2:c.881C>T, XM_017000845.1:c.881C>T, XM_017000846.2:c.857C>T, XM_017000846.1:c.857C>T, XM_017000847.2:c.869C>T, XM_017000847.1:c.869C>T, XM_017000848.2:c.899C>T, XM_017000848.1:c.899C>T, XM_017000849.2:c.884C>T, XM_017000849.1:c.884C>T, XM_005245810.2:c.896C>T, XM_005245810.1:c.896C>T, XM_011541128.2:c.899C>T, XM_011541128.1:c.899C>T, XM_005245811.2:c.884C>T, XM_005245811.1:c.884C>T, XM_006710512.2:c.881C>T, XM_006710512.1:c.881C>T, XM_005245812.2:c.872C>T, XM_005245812.1:c.872C>T, XM_017000850.2:c.899C>T, XM_017000850.1:c.899C>T, XM_006710513.2:c.857C>T, XM_006710513.1:c.857C>T, XM_005245815.2:c.899C>T, XM_005245815.1:c.899C>T, XM_011541129.2:c.899C>T, XM_011541129.1:c.899C>T, XM_047416546.1:c.896C>T, XM_047416547.1:c.872C>T, XM_047416548.1:c.869C>T, XM_047416550.1:c.881C>T, XM_047416551.1:c.872C>T, XM_047416553.1:c.854C>T, XM_047416556.1:c.857C>T, XM_047416560.1:c.896C>T, XM_047416562.1:c.899C>T, XM_047416565.1:c.872C>T, XM_047416539.1:c.869C>T, XM_047416538.1:c.884C>T, XM_047416567.1:c.896C>T, XM_047416542.1:c.854C>T, XM_047416568.1:c.884C>T, XM_047416569.1:c.881C>T, XM_047416570.1:c.872C>T, XM_047416571.1:c.857C>T, XM_047416554.1:c.896C>T, XM_047416564.1:c.896C>T, XM_047416566.1:c.872C>T, XM_047416549.1:c.884C>T, XM_047416537.1:c.896C>T, XM_047416563.1:c.896C>T, XM_047416544.1:c.896C>T, NP_071372.1:p.Pro300Leu, NP_001135445.1:p.Pro295Leu, NP_001135446.1:p.Pro295Leu, XP_016856333.1:p.Pro300Leu, XP_016856334.1:p.Pro294Leu, XP_016856335.1:p.Pro286Leu, XP_016856336.1:p.Pro290Leu, XP_016856337.1:p.Pro300Leu, XP_016856338.1:p.Pro295Leu, XP_005245867.1:p.Pro299Leu, XP_011539430.1:p.Pro300Leu, XP_005245868.1:p.Pro295Leu, XP_006710575.1:p.Pro294Leu, XP_005245869.1:p.Pro291Leu, XP_016856339.1:p.Pro300Leu, XP_006710576.1:p.Pro286Leu, XP_005245872.1:p.Pro300Leu, XP_011539431.1:p.Pro300Leu, XP_047272502.1:p.Pro299Leu, XP_047272503.1:p.Pro291Leu, XP_047272504.1:p.Pro290Leu, XP_047272506.1:p.Pro294Leu, XP_047272507.1:p.Pro291Leu, XP_047272509.1:p.Pro285Leu, XP_047272512.1:p.Pro286Leu, XP_047272516.1:p.Pro299Leu, XP_047272518.1:p.Pro300Leu, XP_047272521.1:p.Pro291Leu, XP_047272495.1:p.Pro290Leu, XP_047272494.1:p.Pro295Leu, XP_047272523.1:p.Pro299Leu, XP_047272498.1:p.Pro285Leu, XP_047272524.1:p.Pro295Leu, XP_047272525.1:p.Pro294Leu, XP_047272526.1:p.Pro291Leu, XP_047272527.1:p.Pro286Leu, XP_047272510.1:p.Pro299Leu, XP_047272520.1:p.Pro299Leu, XP_047272522.1:p.Pro291Leu, XP_047272505.1:p.Pro295Leu, XP_047272493.1:p.Pro299Leu, XP_047272519.1:p.Pro299Leu, XP_047272500.1:p.Pro299Leu

                        12.

                        rs1483765663 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:16992328 (GRCh38)
                          1:17318823 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:16992327:C:T
                          Gene:
                          ATP13A2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.16992328C>T, NC_000001.10:g.17318823C>T, NG_009054.1:g.24601G>A, NM_022089.4:c.1920G>A, NM_022089.3:c.1920G>A, NM_022089.2:c.1920G>A, NM_001141973.3:c.1905G>A, NM_001141973.2:c.1905G>A, NM_001141973.1:c.1905G>A, NM_001141974.3:c.1905G>A, NM_001141974.2:c.1905G>A, NM_001141974.1:c.1905G>A, NW_025791756.1:g.1407505C>T, XM_017000844.2:c.1905G>A, XM_017000844.1:c.1905G>A, XM_017000845.2:c.1902G>A, XM_017000845.1:c.1902G>A, XM_017000846.2:c.1878G>A, XM_017000846.1:c.1878G>A, XM_017000847.2:c.1875G>A, XM_017000847.1:c.1875G>A, XM_017000848.2:c.1920G>A, XM_017000848.1:c.1920G>A, XM_017000849.2:c.1905G>A, XM_017000849.1:c.1905G>A, XM_005245810.2:c.1917G>A, XM_005245810.1:c.1917G>A, XM_011541128.2:c.1905G>A, XM_011541128.1:c.1905G>A, XM_005245811.2:c.1905G>A, XM_005245811.1:c.1905G>A, XM_006710512.2:c.1902G>A, XM_006710512.1:c.1902G>A, XM_005245812.2:c.1893G>A, XM_005245812.1:c.1893G>A, XM_017000850.2:c.1713G>A, XM_017000850.1:c.1713G>A, XM_006710513.2:c.1878G>A, XM_006710513.1:c.1878G>A, XM_005245815.2:c.1920G>A, XM_005245815.1:c.1920G>A, XM_011541129.2:c.1713G>A, XM_011541129.1:c.1713G>A, XM_047416546.1:c.1902G>A, XM_047416547.1:c.1893G>A, XM_047416548.1:c.1890G>A, XM_047416550.1:c.1887G>A, XM_047416551.1:c.1878G>A, XM_047416553.1:c.1875G>A, XM_047416556.1:c.1863G>A, XM_047416560.1:c.1917G>A, XM_047416562.1:c.1905G>A, XM_047416565.1:c.1893G>A, XM_047416539.1:c.1890G>A, XM_047416538.1:c.1890G>A, XM_047416567.1:c.1710G>A, XM_047416542.1:c.1875G>A, XM_047416568.1:c.1698G>A, XM_047416569.1:c.1695G>A, XM_047416570.1:c.1686G>A, XM_047416571.1:c.1671G>A, XM_047416554.1:c.1917G>A, XM_047416564.1:c.1710G>A, XM_047416566.1:c.1686G>A, XM_047416549.1:c.1890G>A, XM_047416537.1:c.1902G>A, XM_047416563.1:c.1902G>A, XM_047416544.1:c.1917G>A

                          13.

                          rs1483668823 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:17002312 (GRCh38)
                            1:17328807 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:17002311:G:A
                            Gene:
                            ATP13A2 (Varview)
                            Functional Consequence:
                            stop_gained,coding_sequence_variant
                            Clinical significance:
                            pathogenic
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.17002312G>A, NC_000001.10:g.17328807G>A, NG_009054.1:g.14617C>T, NM_022089.4:c.619C>T, NM_022089.3:c.619C>T, NM_022089.2:c.619C>T, NM_001141973.3:c.604C>T, NM_001141973.2:c.604C>T, NM_001141973.1:c.604C>T, NM_001141974.3:c.604C>T, NM_001141974.2:c.604C>T, NM_001141974.1:c.604C>T, NW_025791756.1:g.1417493G>A, XM_017000844.2:c.619C>T, XM_017000844.1:c.619C>T, XM_017000845.2:c.601C>T, XM_017000845.1:c.601C>T, XM_017000846.2:c.604C>T, XM_017000846.1:c.604C>T, XM_017000847.2:c.616C>T, XM_017000847.1:c.616C>T, XM_017000848.2:c.619C>T, XM_017000848.1:c.619C>T, XM_017000849.2:c.604C>T, XM_017000849.1:c.604C>T, XM_005245810.2:c.616C>T, XM_005245810.1:c.616C>T, XM_011541128.2:c.619C>T, XM_011541128.1:c.619C>T, XM_005245811.2:c.604C>T, XM_005245811.1:c.604C>T, XM_006710512.2:c.601C>T, XM_006710512.1:c.601C>T, XM_005245812.2:c.619C>T, XM_005245812.1:c.619C>T, XM_017000850.2:c.619C>T, XM_017000850.1:c.619C>T, XM_006710513.2:c.604C>T, XM_006710513.1:c.604C>T, XM_005245815.2:c.619C>T, XM_005245815.1:c.619C>T, XM_011541129.2:c.619C>T, XM_011541129.1:c.619C>T, XM_047416546.1:c.616C>T, XM_047416547.1:c.619C>T, XM_047416548.1:c.616C>T, XM_047416550.1:c.601C>T, XM_047416551.1:c.619C>T, XM_047416553.1:c.601C>T, XM_047416556.1:c.604C>T, XM_047416560.1:c.616C>T, XM_047416562.1:c.619C>T, XM_047416565.1:c.619C>T, XM_047416539.1:c.616C>T, XM_047416538.1:c.604C>T, XM_047416567.1:c.616C>T, XM_047416542.1:c.601C>T, XM_047416568.1:c.604C>T, XM_047416569.1:c.601C>T, XM_047416570.1:c.619C>T, XM_047416571.1:c.604C>T, XM_047416554.1:c.616C>T, XM_047416564.1:c.616C>T, XM_047416566.1:c.619C>T, XM_047416549.1:c.604C>T, XM_047416537.1:c.616C>T, XM_047416563.1:c.616C>T, XM_047416544.1:c.616C>T, NP_071372.1:p.Gln207Ter, NP_001135445.1:p.Gln202Ter, NP_001135446.1:p.Gln202Ter, XP_016856333.1:p.Gln207Ter, XP_016856334.1:p.Gln201Ter, XP_016856335.1:p.Gln202Ter, XP_016856336.1:p.Gln206Ter, XP_016856337.1:p.Gln207Ter, XP_016856338.1:p.Gln202Ter, XP_005245867.1:p.Gln206Ter, XP_011539430.1:p.Gln207Ter, XP_005245868.1:p.Gln202Ter, XP_006710575.1:p.Gln201Ter, XP_005245869.1:p.Gln207Ter, XP_016856339.1:p.Gln207Ter, XP_006710576.1:p.Gln202Ter, XP_005245872.1:p.Gln207Ter, XP_011539431.1:p.Gln207Ter, XP_047272502.1:p.Gln206Ter, XP_047272503.1:p.Gln207Ter, XP_047272504.1:p.Gln206Ter, XP_047272506.1:p.Gln201Ter, XP_047272507.1:p.Gln207Ter, XP_047272509.1:p.Gln201Ter, XP_047272512.1:p.Gln202Ter, XP_047272516.1:p.Gln206Ter, XP_047272518.1:p.Gln207Ter, XP_047272521.1:p.Gln207Ter, XP_047272495.1:p.Gln206Ter, XP_047272494.1:p.Gln202Ter, XP_047272523.1:p.Gln206Ter, XP_047272498.1:p.Gln201Ter, XP_047272524.1:p.Gln202Ter, XP_047272525.1:p.Gln201Ter, XP_047272526.1:p.Gln207Ter, XP_047272527.1:p.Gln202Ter, XP_047272510.1:p.Gln206Ter, XP_047272520.1:p.Gln206Ter, XP_047272522.1:p.Gln207Ter, XP_047272505.1:p.Gln202Ter, XP_047272493.1:p.Gln206Ter, XP_047272519.1:p.Gln206Ter, XP_047272500.1:p.Gln206Ter

                            14.

                            rs1483570501 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:16996090 (GRCh38)
                              1:17322585 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:16996089:G:A
                              Gene:
                              ATP13A2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000047/1 (ALFA)
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.16996090G>A, NC_000001.10:g.17322585G>A, NG_009054.1:g.20839C>T, NM_022089.4:c.1428C>T, NM_022089.3:c.1428C>T, NM_022089.2:c.1428C>T, NM_001141973.3:c.1413C>T, NM_001141973.2:c.1413C>T, NM_001141973.1:c.1413C>T, NM_001141974.3:c.1413C>T, NM_001141974.2:c.1413C>T, NM_001141974.1:c.1413C>T, NW_025791756.1:g.1411267G>A, XM_017000844.2:c.1428C>T, XM_017000844.1:c.1428C>T, XM_017000845.2:c.1410C>T, XM_017000845.1:c.1410C>T, XM_017000846.2:c.1386C>T, XM_017000846.1:c.1386C>T, XM_017000847.2:c.1398C>T, XM_017000847.1:c.1398C>T, XM_017000848.2:c.1428C>T, XM_017000848.1:c.1428C>T, XM_017000849.2:c.1413C>T, XM_017000849.1:c.1413C>T, XM_005245810.2:c.1425C>T, XM_005245810.1:c.1425C>T, XM_011541128.2:c.1428C>T, XM_011541128.1:c.1428C>T, XM_005245811.2:c.1413C>T, XM_005245811.1:c.1413C>T, XM_006710512.2:c.1410C>T, XM_006710512.1:c.1410C>T, XM_005245812.2:c.1401C>T, XM_005245812.1:c.1401C>T, XM_017000850.2:c.1428C>T, XM_017000850.1:c.1428C>T, XM_006710513.2:c.1386C>T, XM_006710513.1:c.1386C>T, XM_005245815.2:c.1428C>T, XM_005245815.1:c.1428C>T, XM_011541129.2:c.1428C>T, XM_011541129.1:c.1428C>T, XM_047416546.1:c.1425C>T, XM_047416547.1:c.1401C>T, XM_047416548.1:c.1398C>T, XM_047416550.1:c.1410C>T, XM_047416551.1:c.1401C>T, XM_047416553.1:c.1383C>T, XM_047416556.1:c.1386C>T, XM_047416560.1:c.1425C>T, XM_047416562.1:c.1428C>T, XM_047416565.1:c.1401C>T, XM_047416539.1:c.1398C>T, XM_047416538.1:c.1413C>T, XM_047416567.1:c.1425C>T, XM_047416542.1:c.1383C>T, XM_047416568.1:c.1413C>T, XM_047416569.1:c.1410C>T, XM_047416570.1:c.1401C>T, XM_047416571.1:c.1386C>T, XM_047416554.1:c.1425C>T, XM_047416564.1:c.1425C>T, XM_047416566.1:c.1401C>T, XM_047416549.1:c.1413C>T, XM_047416537.1:c.1425C>T, XM_047416563.1:c.1425C>T, XM_047416544.1:c.1425C>T

                              15.

                              rs1483480318 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:16992573 (GRCh38)
                                1:17319068 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:16992572:C:T
                                Gene:
                                ATP13A2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.16992573C>T, NC_000001.10:g.17319068C>T, NG_009054.1:g.24356G>A, NM_022089.4:c.1758G>A, NM_022089.3:c.1758G>A, NM_022089.2:c.1758G>A, NM_001141973.3:c.1743G>A, NM_001141973.2:c.1743G>A, NM_001141973.1:c.1743G>A, NM_001141974.3:c.1743G>A, NM_001141974.2:c.1743G>A, NM_001141974.1:c.1743G>A, NW_025791756.1:g.1407750C>T, XM_017000844.2:c.1743G>A, XM_017000844.1:c.1743G>A, XM_017000845.2:c.1740G>A, XM_017000845.1:c.1740G>A, XM_017000846.2:c.1716G>A, XM_017000846.1:c.1716G>A, XM_017000847.2:c.1713G>A, XM_017000847.1:c.1713G>A, XM_017000848.2:c.1758G>A, XM_017000848.1:c.1758G>A, XM_017000849.2:c.1743G>A, XM_017000849.1:c.1743G>A, XM_005245810.2:c.1755G>A, XM_005245810.1:c.1755G>A, XM_011541128.2:c.1743G>A, XM_011541128.1:c.1743G>A, XM_005245811.2:c.1743G>A, XM_005245811.1:c.1743G>A, XM_006710512.2:c.1740G>A, XM_006710512.1:c.1740G>A, XM_005245812.2:c.1731G>A, XM_005245812.1:c.1731G>A, XM_017000850.2:c.1551G>A, XM_017000850.1:c.1551G>A, XM_006710513.2:c.1716G>A, XM_006710513.1:c.1716G>A, XM_005245815.2:c.1758G>A, XM_005245815.1:c.1758G>A, XM_011541129.2:c.1551G>A, XM_011541129.1:c.1551G>A, XM_047416546.1:c.1740G>A, XM_047416547.1:c.1731G>A, XM_047416548.1:c.1728G>A, XM_047416550.1:c.1725G>A, XM_047416551.1:c.1716G>A, XM_047416553.1:c.1713G>A, XM_047416556.1:c.1701G>A, XM_047416560.1:c.1755G>A, XM_047416562.1:c.1743G>A, XM_047416565.1:c.1731G>A, XM_047416539.1:c.1728G>A, XM_047416538.1:c.1728G>A, XM_047416567.1:c.1548G>A, XM_047416542.1:c.1713G>A, XM_047416568.1:c.1536G>A, XM_047416569.1:c.1533G>A, XM_047416570.1:c.1524G>A, XM_047416571.1:c.1509G>A, XM_047416554.1:c.1755G>A, XM_047416564.1:c.1548G>A, XM_047416566.1:c.1524G>A, XM_047416549.1:c.1728G>A, XM_047416537.1:c.1740G>A, XM_047416563.1:c.1740G>A, XM_047416544.1:c.1755G>A

                                16.

                                rs1482100202 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  1:17004759 (GRCh38)
                                  1:17331254 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:17004758:A:C
                                  Gene:
                                  ATP13A2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  C=0.005459/10 (Korea1K)
                                  HGVS:
                                  NC_000001.11:g.17004759A>C, NC_000001.10:g.17331254A>C, NG_009054.1:g.12170T>G, NM_022089.4:c.410T>G, NM_022089.3:c.410T>G, NM_022089.2:c.410T>G, NM_001141973.3:c.410T>G, NM_001141973.2:c.410T>G, NM_001141973.1:c.410T>G, NM_001141974.3:c.410T>G, NM_001141974.2:c.410T>G, NM_001141974.1:c.410T>G, NW_025791756.1:g.1419942A>C, XM_017000844.2:c.410T>G, XM_017000844.1:c.410T>G, XM_017000845.2:c.410T>G, XM_017000845.1:c.410T>G, XM_017000846.2:c.410T>G, XM_017000846.1:c.410T>G, XM_017000847.2:c.410T>G, XM_017000847.1:c.410T>G, XM_017000848.2:c.410T>G, XM_017000848.1:c.410T>G, XM_017000849.2:c.410T>G, XM_017000849.1:c.410T>G, XM_005245810.2:c.410T>G, XM_005245810.1:c.410T>G, XM_011541128.2:c.410T>G, XM_011541128.1:c.410T>G, XM_005245811.2:c.410T>G, XM_005245811.1:c.410T>G, XM_006710512.2:c.410T>G, XM_006710512.1:c.410T>G, XM_005245812.2:c.410T>G, XM_005245812.1:c.410T>G, XM_017000850.2:c.410T>G, XM_017000850.1:c.410T>G, XM_006710513.2:c.410T>G, XM_006710513.1:c.410T>G, XM_005245815.2:c.410T>G, XM_005245815.1:c.410T>G, XM_011541129.2:c.410T>G, XM_011541129.1:c.410T>G, XM_047416546.1:c.410T>G, XM_047416547.1:c.410T>G, XM_047416548.1:c.410T>G, XM_047416550.1:c.410T>G, XM_047416551.1:c.410T>G, XM_047416553.1:c.410T>G, XM_047416556.1:c.410T>G, XM_047416560.1:c.410T>G, XM_047416562.1:c.410T>G, XM_047416565.1:c.410T>G, XM_047416539.1:c.410T>G, XM_047416538.1:c.410T>G, XM_047416567.1:c.410T>G, XM_047416542.1:c.410T>G, XM_047416568.1:c.410T>G, XM_047416569.1:c.410T>G, XM_047416570.1:c.410T>G, XM_047416571.1:c.410T>G, XM_047416554.1:c.410T>G, XM_047416564.1:c.410T>G, XM_047416566.1:c.410T>G, XM_047416549.1:c.410T>G, XM_047416537.1:c.410T>G, XM_047416563.1:c.410T>G, XM_047416544.1:c.410T>G, NP_071372.1:p.Val137Gly, NP_001135445.1:p.Val137Gly, NP_001135446.1:p.Val137Gly, XP_016856333.1:p.Val137Gly, XP_016856334.1:p.Val137Gly, XP_016856335.1:p.Val137Gly, XP_016856336.1:p.Val137Gly, XP_016856337.1:p.Val137Gly, XP_016856338.1:p.Val137Gly, XP_005245867.1:p.Val137Gly, XP_011539430.1:p.Val137Gly, XP_005245868.1:p.Val137Gly, XP_006710575.1:p.Val137Gly, XP_005245869.1:p.Val137Gly, XP_016856339.1:p.Val137Gly, XP_006710576.1:p.Val137Gly, XP_005245872.1:p.Val137Gly, XP_011539431.1:p.Val137Gly, XP_047272502.1:p.Val137Gly, XP_047272503.1:p.Val137Gly, XP_047272504.1:p.Val137Gly, XP_047272506.1:p.Val137Gly, XP_047272507.1:p.Val137Gly, XP_047272509.1:p.Val137Gly, XP_047272512.1:p.Val137Gly, XP_047272516.1:p.Val137Gly, XP_047272518.1:p.Val137Gly, XP_047272521.1:p.Val137Gly, XP_047272495.1:p.Val137Gly, XP_047272494.1:p.Val137Gly, XP_047272523.1:p.Val137Gly, XP_047272498.1:p.Val137Gly, XP_047272524.1:p.Val137Gly, XP_047272525.1:p.Val137Gly, XP_047272526.1:p.Val137Gly, XP_047272527.1:p.Val137Gly, XP_047272510.1:p.Val137Gly, XP_047272520.1:p.Val137Gly, XP_047272522.1:p.Val137Gly, XP_047272505.1:p.Val137Gly, XP_047272493.1:p.Val137Gly, XP_047272519.1:p.Val137Gly, XP_047272500.1:p.Val137Gly

                                  17.

                                  rs1481840950 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:16993767 (GRCh38)
                                    1:17320262 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:16993766:C:T
                                    Gene:
                                    ATP13A2 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant
                                    HGVS:
                                    NC_000001.11:g.16993767C>T, NC_000001.10:g.17320262C>T, NG_009054.1:g.23162G>A, NM_022089.4:c.1611G>A, NM_022089.3:c.1611G>A, NM_022089.2:c.1611G>A, NM_001141973.3:c.1596G>A, NM_001141973.2:c.1596G>A, NM_001141973.1:c.1596G>A, NM_001141974.3:c.1596G>A, NM_001141974.2:c.1596G>A, NM_001141974.1:c.1596G>A, NW_025791756.1:g.1408944C>T, XM_017000844.2:c.1596G>A, XM_017000844.1:c.1596G>A, XM_017000845.2:c.1593G>A, XM_017000845.1:c.1593G>A, XM_017000846.2:c.1569G>A, XM_017000846.1:c.1569G>A, XM_017000847.2:c.1566G>A, XM_017000847.1:c.1566G>A, XM_017000848.2:c.1611G>A, XM_017000848.1:c.1611G>A, XM_017000849.2:c.1596G>A, XM_017000849.1:c.1596G>A, XM_005245810.2:c.1608G>A, XM_005245810.1:c.1608G>A, XM_011541128.2:c.1596G>A, XM_011541128.1:c.1596G>A, XM_005245811.2:c.1596G>A, XM_005245811.1:c.1596G>A, XM_006710512.2:c.1593G>A, XM_006710512.1:c.1593G>A, XM_005245812.2:c.1584G>A, XM_005245812.1:c.1584G>A, XM_006710513.2:c.1569G>A, XM_006710513.1:c.1569G>A, XM_005245815.2:c.1611G>A, XM_005245815.1:c.1611G>A, XM_047416546.1:c.1593G>A, XM_047416547.1:c.1584G>A, XM_047416548.1:c.1581G>A, XM_047416550.1:c.1578G>A, XM_047416551.1:c.1569G>A, XM_047416553.1:c.1566G>A, XM_047416556.1:c.1554G>A, XM_047416560.1:c.1608G>A, XM_047416562.1:c.1596G>A, XM_047416565.1:c.1584G>A, XM_047416539.1:c.1581G>A, XM_047416538.1:c.1581G>A, XM_047416542.1:c.1566G>A, XM_047416554.1:c.1608G>A, XM_047416549.1:c.1581G>A, XM_047416537.1:c.1593G>A, XM_047416563.1:c.1593G>A, XM_047416544.1:c.1608G>A

                                    18.

                                    rs1480620416 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:16990204 (GRCh38)
                                      1:17316699 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:16990203:T:G
                                      Gene:
                                      ATP13A2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.00007/2 (TOMMO)
                                      G=0.00109/2 (Korea1K)
                                      HGVS:
                                      NC_000001.11:g.16990204T>G, NC_000001.10:g.17316699T>G, NG_009054.1:g.26725A>C, NM_022089.4:c.2335A>C, NM_022089.3:c.2335A>C, NM_022089.2:c.2335A>C, NM_001141973.3:c.2320A>C, NM_001141973.2:c.2320A>C, NM_001141973.1:c.2320A>C, NM_001141974.3:c.2320A>C, NM_001141974.2:c.2320A>C, NM_001141974.1:c.2320A>C, NW_025791756.1:g.1405381T>G, XM_017000844.2:c.2320A>C, XM_017000844.1:c.2320A>C, XM_017000845.2:c.2317A>C, XM_017000845.1:c.2317A>C, XM_017000846.2:c.2293A>C, XM_017000846.1:c.2293A>C, XM_017000847.2:c.2290A>C, XM_017000847.1:c.2290A>C, XM_017000848.2:c.2335A>C, XM_017000848.1:c.2335A>C, XM_017000849.2:c.2320A>C, XM_017000849.1:c.2320A>C, XM_005245810.2:c.2332A>C, XM_005245810.1:c.2332A>C, XM_011541128.2:c.2320A>C, XM_011541128.1:c.2320A>C, XM_005245811.2:c.2320A>C, XM_005245811.1:c.2320A>C, XM_006710512.2:c.2317A>C, XM_006710512.1:c.2317A>C, XM_005245812.2:c.2308A>C, XM_005245812.1:c.2308A>C, XM_017000850.2:c.2128A>C, XM_017000850.1:c.2128A>C, XM_006710513.2:c.2293A>C, XM_006710513.1:c.2293A>C, XM_005245815.2:c.2335A>C, XM_005245815.1:c.2335A>C, XM_011541129.2:c.2128A>C, XM_011541129.1:c.2128A>C, XM_047416546.1:c.2317A>C, XM_047416547.1:c.2308A>C, XM_047416548.1:c.2305A>C, XM_047416550.1:c.2302A>C, XM_047416551.1:c.2293A>C, XM_047416553.1:c.2290A>C, XM_047416556.1:c.2278A>C, XM_047416560.1:c.2332A>C, XM_047416562.1:c.2320A>C, XM_047416565.1:c.2308A>C, XM_047416539.1:c.2305A>C, XM_047416538.1:c.2305A>C, XM_047416567.1:c.2125A>C, XM_047416542.1:c.2290A>C, XM_047416568.1:c.2113A>C, XM_047416569.1:c.2110A>C, XM_047416570.1:c.2101A>C, XM_047416571.1:c.2086A>C, XM_047416554.1:c.2332A>C, XM_047416564.1:c.2125A>C, XM_047416566.1:c.2101A>C, XM_047416549.1:c.2305A>C, XM_047416537.1:c.2317A>C, XM_047416563.1:c.2317A>C, XM_047416544.1:c.2332A>C, NP_071372.1:p.Thr779Pro, NP_001135445.1:p.Thr774Pro, NP_001135446.1:p.Thr774Pro, XP_016856333.1:p.Thr774Pro, XP_016856334.1:p.Thr773Pro, XP_016856335.1:p.Thr765Pro, XP_016856336.1:p.Thr764Pro, XP_016856337.1:p.Thr779Pro, XP_016856338.1:p.Thr774Pro, XP_005245867.1:p.Thr778Pro, XP_011539430.1:p.Thr774Pro, XP_005245868.1:p.Thr774Pro, XP_006710575.1:p.Thr773Pro, XP_005245869.1:p.Thr770Pro, XP_016856339.1:p.Thr710Pro, XP_006710576.1:p.Thr765Pro, XP_005245872.1:p.Thr779Pro, XP_011539431.1:p.Thr710Pro, XP_047272502.1:p.Thr773Pro, XP_047272503.1:p.Thr770Pro, XP_047272504.1:p.Thr769Pro, XP_047272506.1:p.Thr768Pro, XP_047272507.1:p.Thr765Pro, XP_047272509.1:p.Thr764Pro, XP_047272512.1:p.Thr760Pro, XP_047272516.1:p.Thr778Pro, XP_047272518.1:p.Thr774Pro, XP_047272521.1:p.Thr770Pro, XP_047272495.1:p.Thr769Pro, XP_047272494.1:p.Thr769Pro, XP_047272523.1:p.Thr709Pro, XP_047272498.1:p.Thr764Pro, XP_047272524.1:p.Thr705Pro, XP_047272525.1:p.Thr704Pro, XP_047272526.1:p.Thr701Pro, XP_047272527.1:p.Thr696Pro, XP_047272510.1:p.Thr778Pro, XP_047272520.1:p.Thr709Pro, XP_047272522.1:p.Thr701Pro, XP_047272505.1:p.Thr769Pro, XP_047272493.1:p.Thr773Pro, XP_047272519.1:p.Thr773Pro, XP_047272500.1:p.Thr778Pro

                                      19.

                                      rs1479698228 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:17000265 (GRCh38)
                                        1:17326760 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:17000264:G:A
                                        Gene:
                                        ATP13A2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000032/6 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.17000265G>A, NC_000001.10:g.17326760G>A, NG_009054.1:g.16664C>T, NM_022089.4:c.888C>T, NM_022089.3:c.888C>T, NM_022089.2:c.888C>T, NM_001141973.3:c.873C>T, NM_001141973.2:c.873C>T, NM_001141973.1:c.873C>T, NM_001141974.3:c.873C>T, NM_001141974.2:c.873C>T, NM_001141974.1:c.873C>T, NW_025791756.1:g.1415438G>A, XM_017000844.2:c.888C>T, XM_017000844.1:c.888C>T, XM_017000845.2:c.870C>T, XM_017000845.1:c.870C>T, XM_017000846.2:c.846C>T, XM_017000846.1:c.846C>T, XM_017000847.2:c.858C>T, XM_017000847.1:c.858C>T, XM_017000848.2:c.888C>T, XM_017000848.1:c.888C>T, XM_017000849.2:c.873C>T, XM_017000849.1:c.873C>T, XM_005245810.2:c.885C>T, XM_005245810.1:c.885C>T, XM_011541128.2:c.888C>T, XM_011541128.1:c.888C>T, XM_005245811.2:c.873C>T, XM_005245811.1:c.873C>T, XM_006710512.2:c.870C>T, XM_006710512.1:c.870C>T, XM_005245812.2:c.861C>T, XM_005245812.1:c.861C>T, XM_017000850.2:c.888C>T, XM_017000850.1:c.888C>T, XM_006710513.2:c.846C>T, XM_006710513.1:c.846C>T, XM_005245815.2:c.888C>T, XM_005245815.1:c.888C>T, XM_011541129.2:c.888C>T, XM_011541129.1:c.888C>T, XM_047416546.1:c.885C>T, XM_047416547.1:c.861C>T, XM_047416548.1:c.858C>T, XM_047416550.1:c.870C>T, XM_047416551.1:c.861C>T, XM_047416553.1:c.843C>T, XM_047416556.1:c.846C>T, XM_047416560.1:c.885C>T, XM_047416562.1:c.888C>T, XM_047416565.1:c.861C>T, XM_047416539.1:c.858C>T, XM_047416538.1:c.873C>T, XM_047416567.1:c.885C>T, XM_047416542.1:c.843C>T, XM_047416568.1:c.873C>T, XM_047416569.1:c.870C>T, XM_047416570.1:c.861C>T, XM_047416571.1:c.846C>T, XM_047416554.1:c.885C>T, XM_047416564.1:c.885C>T, XM_047416566.1:c.861C>T, XM_047416549.1:c.873C>T, XM_047416537.1:c.885C>T, XM_047416563.1:c.885C>T, XM_047416544.1:c.885C>T

                                        20.

                                        rs1479233426 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          1:16986579 (GRCh38)
                                          1:17313074 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:16986578:GG:G
                                          Gene:
                                          ATP13A2 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.16986580del, NC_000001.10:g.17313075del, NG_009054.1:g.30350del, NM_022089.4:c.3289del, NM_022089.3:c.3289del, NM_022089.2:c.3289del, NM_001141973.3:c.3274del, NM_001141973.2:c.3274del, NM_001141973.1:c.3274del, NG_029688.1:g.8del, NW_025791756.1:g.1401757del, XM_017000844.2:c.3274del, XM_017000844.1:c.3274del, XM_017000845.2:c.3271del, XM_017000845.1:c.3271del, XM_017000846.2:c.3247del, XM_017000846.1:c.3247del, XM_017000847.2:c.3244del, XM_017000847.1:c.3244del, XM_017000848.2:c.3172del, XM_017000848.1:c.3172del, XM_017000849.2:c.3157del, XM_017000849.1:c.3157del, XM_017000850.2:c.3082del, XM_017000850.1:c.3082del, XM_047416565.1:c.3145del, XM_047416544.1:c.3286del, XM_047416546.1:c.3271del, XM_047416548.1:c.3259del, XM_047416550.1:c.3256del, XM_047416551.1:c.3247del, XM_047416553.1:c.3244del, XM_047416556.1:c.3232del, XM_047416560.1:c.3169del, XM_047416562.1:c.3157del, XM_047416563.1:c.3154del, XM_047416567.1:c.3079del, XM_047416568.1:c.3067del, XM_047416569.1:c.3064del, XM_047416570.1:c.3055del, XM_047416571.1:c.3040del, XM_047416549.1:c.3259del, XM_047416547.1:c.3262del, NP_071372.1:p.Leu1097fs, NP_001135445.1:p.Leu1092fs, XP_016856333.1:p.Leu1092fs, XP_016856334.1:p.Leu1091fs, XP_016856335.1:p.Leu1083fs, XP_016856336.1:p.Leu1082fs, XP_016856337.1:p.Leu1058fs, XP_016856338.1:p.Leu1053fs, XP_016856339.1:p.Leu1028fs, XP_047272521.1:p.Leu1049fs, XP_047272500.1:p.Leu1096fs, XP_047272502.1:p.Leu1091fs, XP_047272504.1:p.Leu1087fs, XP_047272506.1:p.Leu1086fs, XP_047272507.1:p.Leu1083fs, XP_047272509.1:p.Leu1082fs, XP_047272512.1:p.Leu1078fs, XP_047272516.1:p.Leu1057fs, XP_047272518.1:p.Leu1053fs, XP_047272519.1:p.Leu1052fs, XP_047272523.1:p.Leu1027fs, XP_047272524.1:p.Leu1023fs, XP_047272525.1:p.Leu1022fs, XP_047272526.1:p.Leu1019fs, XP_047272527.1:p.Leu1014fs, XP_047272505.1:p.Leu1087fs, XP_047272503.1:p.Leu1088fs

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