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Items: 1 to 20 of 1009

1.

rs1491321654 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    13:25579816 (GRCh38)
    13:26153954 (GRCh37)
    Canonical SPDI:
    NC_000013.11:25579815:AC:
    Gene:
    ATP8A2 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.000008/1 (ExAC)
    HGVS:
    NC_000013.11:g.25579816_25579817del, NC_000013.10:g.26153954_26153955del, NG_042855.1:g.212806_212807del, NM_016529.6:c.1876_1877del, NM_016529.5:c.1876_1877del, NM_016529.4:c.1876_1877del, NM_001411005.1:c.1876_1877del, NM_001313741.1:c.1756_1757del, NM_001411006.1:c.1876_1877del, XM_011535109.4:c.1396_1397del, XM_011535109.3:c.1396_1397del, XM_011535109.2:c.1396_1397del, XM_011535109.1:c.1396_1397del, XM_011535107.4:c.1876_1877del, XM_011535107.3:c.1876_1877del, XM_011535107.2:c.1876_1877del, XM_011535107.1:c.1876_1877del, XM_011535104.3:c.1756_1757del, XM_011535104.2:c.1756_1757del, XM_011535104.1:c.1756_1757del, XM_011535113.3:c.1876_1877del, XM_011535113.2:c.1876_1877del, XM_011535113.1:c.1876_1877del, XM_017020625.3:c.1876_1877del, XM_017020625.2:c.1876_1877del, XM_017020625.1:c.1876_1877del, XM_011535103.2:c.1876_1877del, XM_005266419.2:c.1756_1757del, XM_005266419.1:c.1756_1757del, XM_011535106.2:c.1876_1877del, XM_017020626.2:c.1876_1877del, XM_017020626.1:c.1876_1877del, XM_047430383.1:c.1756_1757del, XM_024449369.1:c.1282_1283del, NP_057613.4:p.Thr626fs, NP_001300670.1:p.Thr586fs, XP_011533411.1:p.Thr466fs, XP_011533409.1:p.Thr626fs, XP_011533406.1:p.Thr586fs, XP_011533415.1:p.Thr626fs, XP_016876114.1:p.Thr626fs, XP_011533405.1:p.Thr626fs, XP_005266476.1:p.Thr586fs, XP_011533408.1:p.Thr626fs, XP_016876115.1:p.Thr626fs, XP_047286339.1:p.Thr586fs, XP_024305137.1:p.Thr428fs

    2.

    rs1489968306 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      13:25469073 (GRCh38)
      13:26043211 (GRCh37)
      Canonical SPDI:
      NC_000013.11:25469072:T:C
      Gene:
      ATP8A2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000013.11:g.25469073T>C, NC_000013.10:g.26043211T>C, NG_042855.1:g.102063T>C, NM_016529.6:c.173T>C, NM_016529.5:c.173T>C, NM_016529.4:c.173T>C, NM_001411005.1:c.173T>C, NM_001313741.1:c.53T>C, NM_001411006.1:c.173T>C, XM_011535107.4:c.173T>C, XM_011535107.3:c.173T>C, XM_011535107.2:c.173T>C, XM_011535107.1:c.173T>C, XM_011535104.3:c.-76T>C, XM_011535104.2:c.-76T>C, XM_011535113.3:c.173T>C, XM_011535113.2:c.173T>C, XM_011535113.1:c.173T>C, XM_017020625.3:c.173T>C, XM_017020625.2:c.173T>C, XM_017020625.1:c.173T>C, XM_011535103.2:c.173T>C, XM_005266419.2:c.53T>C, XM_005266419.1:c.53T>C, XM_011535106.2:c.173T>C, XM_017020626.2:c.173T>C, XM_017020626.1:c.173T>C, XM_047430383.1:c.53T>C, NP_057613.4:p.Ile58Thr, NP_001300670.1:p.Ile18Thr, XP_011533409.1:p.Ile58Thr, XP_011533415.1:p.Ile58Thr, XP_016876114.1:p.Ile58Thr, XP_011533405.1:p.Ile58Thr, XP_005266476.1:p.Ile18Thr, XP_011533408.1:p.Ile58Thr, XP_016876115.1:p.Ile58Thr, XP_047286339.1:p.Ile18Thr

      3.

      rs1489561872 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        13:26012537 (GRCh38)
        13:26586675 (GRCh37)
        Canonical SPDI:
        NC_000013.11:26012536:C:G,NC_000013.11:26012536:C:T
        Gene:
        ATP8A2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.00007/1 (TOMMO)
        HGVS:
        NC_000013.11:g.26012537C>G, NC_000013.11:g.26012537C>T, NC_000013.10:g.26586675C>G, NC_000013.10:g.26586675C>T, NG_042855.1:g.645527C>G, NG_042855.1:g.645527C>T, NM_016529.6:c.3384C>G, NM_016529.6:c.3384C>T, NM_016529.5:c.3384C>G, NM_016529.5:c.3384C>T, NM_016529.4:c.3384C>G, NM_016529.4:c.3384C>T, NM_001411005.1:c.3309C>G, NM_001411005.1:c.3309C>T, NM_001313741.1:c.3189C>G, NM_001313741.1:c.3189C>T, XM_011535109.4:c.2904C>G, XM_011535109.4:c.2904C>T, XM_011535109.3:c.2904C>G, XM_011535109.3:c.2904C>T, XM_011535109.2:c.2904C>G, XM_011535109.2:c.2904C>T, XM_011535109.1:c.2904C>G, XM_011535109.1:c.2904C>T, XM_011535104.3:c.3264C>G, XM_011535104.3:c.3264C>T, XM_011535104.2:c.3264C>G, XM_011535104.2:c.3264C>T, XM_011535104.1:c.3264C>G, XM_011535104.1:c.3264C>T, XM_011535103.2:c.3309C>G, XM_011535103.2:c.3309C>T, XM_005266419.2:c.3264C>G, XM_005266419.2:c.3264C>T, XM_005266419.1:c.3264C>G, XM_005266419.1:c.3264C>T, XM_047430383.1:c.3264C>G, XM_047430383.1:c.3264C>T, XM_024449369.1:c.2790C>G, XM_024449369.1:c.2790C>T, NP_057613.4:p.Asn1128Lys, NP_001300670.1:p.Asn1063Lys, XP_011533411.1:p.Asn968Lys, XP_011533406.1:p.Asn1088Lys, XP_011533405.1:p.Asn1103Lys, XP_005266476.1:p.Asn1088Lys, XP_047286339.1:p.Asn1088Lys, XP_024305137.1:p.Asn930Lys

        4.

        rs1488656371 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          13:25559048 (GRCh38)
          13:26133186 (GRCh37)
          Canonical SPDI:
          NC_000013.11:25559047:G:A
          Gene:
          ATP8A2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.25559048G>A, NC_000013.10:g.26133186G>A, NG_042855.1:g.192038G>A, NM_016529.6:c.1339G>A, NM_016529.5:c.1339G>A, NM_016529.4:c.1339G>A, NM_001411005.1:c.1339G>A, NM_001313741.1:c.1219G>A, NM_001411006.1:c.1339G>A, XM_011535109.4:c.859G>A, XM_011535109.3:c.859G>A, XM_011535109.2:c.859G>A, XM_011535109.1:c.859G>A, XM_011535107.4:c.1339G>A, XM_011535107.3:c.1339G>A, XM_011535107.2:c.1339G>A, XM_011535107.1:c.1339G>A, XM_011535104.3:c.1219G>A, XM_011535104.2:c.1219G>A, XM_011535104.1:c.1219G>A, XM_011535113.3:c.1339G>A, XM_011535113.2:c.1339G>A, XM_011535113.1:c.1339G>A, XM_017020625.3:c.1339G>A, XM_017020625.2:c.1339G>A, XM_017020625.1:c.1339G>A, XM_011535103.2:c.1339G>A, XM_005266419.2:c.1219G>A, XM_005266419.1:c.1219G>A, XM_011535106.2:c.1339G>A, XM_017020626.2:c.1339G>A, XM_017020626.1:c.1339G>A, XM_047430383.1:c.1219G>A, XM_024449369.1:c.745G>A, NP_057613.4:p.Gly447Arg, NP_001300670.1:p.Gly407Arg, XP_011533411.1:p.Gly287Arg, XP_011533409.1:p.Gly447Arg, XP_011533406.1:p.Gly407Arg, XP_011533415.1:p.Gly447Arg, XP_016876114.1:p.Gly447Arg, XP_011533405.1:p.Gly447Arg, XP_005266476.1:p.Gly407Arg, XP_011533408.1:p.Gly447Arg, XP_016876115.1:p.Gly447Arg, XP_047286339.1:p.Gly407Arg, XP_024305137.1:p.Gly249Arg

          5.

          rs1488399508 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            13:25564024 (GRCh38)
            13:26138162 (GRCh37)
            Canonical SPDI:
            NC_000013.11:25564023:A:G,NC_000013.11:25564023:A:T
            Gene:
            ATP8A2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_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_000013.11:g.25564024A>G, NC_000013.11:g.25564024A>T, NC_000013.10:g.26138162A>G, NC_000013.10:g.26138162A>T, NG_042855.1:g.197014A>G, NG_042855.1:g.197014A>T, NM_016529.6:c.1466A>G, NM_016529.6:c.1466A>T, NM_016529.5:c.1466A>G, NM_016529.5:c.1466A>T, NM_016529.4:c.1466A>G, NM_016529.4:c.1466A>T, NM_001411005.1:c.1466A>G, NM_001411005.1:c.1466A>T, NM_001313741.1:c.1346A>G, NM_001313741.1:c.1346A>T, NM_001411006.1:c.1466A>G, NM_001411006.1:c.1466A>T, XM_011535109.4:c.986A>G, XM_011535109.4:c.986A>T, XM_011535109.3:c.986A>G, XM_011535109.3:c.986A>T, XM_011535109.2:c.986A>G, XM_011535109.2:c.986A>T, XM_011535109.1:c.986A>G, XM_011535109.1:c.986A>T, XM_011535107.4:c.1466A>G, XM_011535107.4:c.1466A>T, XM_011535107.3:c.1466A>G, XM_011535107.3:c.1466A>T, XM_011535107.2:c.1466A>G, XM_011535107.2:c.1466A>T, XM_011535107.1:c.1466A>G, XM_011535107.1:c.1466A>T, XM_011535104.3:c.1346A>G, XM_011535104.3:c.1346A>T, XM_011535104.2:c.1346A>G, XM_011535104.2:c.1346A>T, XM_011535104.1:c.1346A>G, XM_011535104.1:c.1346A>T, XM_011535113.3:c.1466A>G, XM_011535113.3:c.1466A>T, XM_011535113.2:c.1466A>G, XM_011535113.2:c.1466A>T, XM_011535113.1:c.1466A>G, XM_011535113.1:c.1466A>T, XM_017020625.3:c.1466A>G, XM_017020625.3:c.1466A>T, XM_017020625.2:c.1466A>G, XM_017020625.2:c.1466A>T, XM_017020625.1:c.1466A>G, XM_017020625.1:c.1466A>T, XM_011535103.2:c.1466A>G, XM_011535103.2:c.1466A>T, XM_005266419.2:c.1346A>G, XM_005266419.2:c.1346A>T, XM_005266419.1:c.1346A>G, XM_005266419.1:c.1346A>T, XM_011535106.2:c.1466A>G, XM_011535106.2:c.1466A>T, XM_017020626.2:c.1466A>G, XM_017020626.2:c.1466A>T, XM_017020626.1:c.1466A>G, XM_017020626.1:c.1466A>T, XM_047430383.1:c.1346A>G, XM_047430383.1:c.1346A>T, XM_024449369.1:c.872A>G, XM_024449369.1:c.872A>T, NP_057613.4:p.Asp489Gly, NP_057613.4:p.Asp489Val, NP_001300670.1:p.Asp449Gly, NP_001300670.1:p.Asp449Val, XP_011533411.1:p.Asp329Gly, XP_011533411.1:p.Asp329Val, XP_011533409.1:p.Asp489Gly, XP_011533409.1:p.Asp489Val, XP_011533406.1:p.Asp449Gly, XP_011533406.1:p.Asp449Val, XP_011533415.1:p.Asp489Gly, XP_011533415.1:p.Asp489Val, XP_016876114.1:p.Asp489Gly, XP_016876114.1:p.Asp489Val, XP_011533405.1:p.Asp489Gly, XP_011533405.1:p.Asp489Val, XP_005266476.1:p.Asp449Gly, XP_005266476.1:p.Asp449Val, XP_011533408.1:p.Asp489Gly, XP_011533408.1:p.Asp489Val, XP_016876115.1:p.Asp489Gly, XP_016876115.1:p.Asp489Val, XP_047286339.1:p.Asp449Gly, XP_047286339.1:p.Asp449Val, XP_024305137.1:p.Asp291Gly, XP_024305137.1:p.Asp291Val

            6.

            rs1487414760 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              13:25571636 (GRCh38)
              13:26145774 (GRCh37)
              Canonical SPDI:
              NC_000013.11:25571635:A:G
              Gene:
              ATP8A2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.25571636A>G, NC_000013.10:g.26145774A>G, NG_042855.1:g.204626A>G, NM_016529.6:c.1606A>G, NM_016529.5:c.1606A>G, NM_016529.4:c.1606A>G, NM_001411005.1:c.1606A>G, NM_001313741.1:c.1486A>G, NM_001411006.1:c.1606A>G, XM_011535109.4:c.1126A>G, XM_011535109.3:c.1126A>G, XM_011535109.2:c.1126A>G, XM_011535109.1:c.1126A>G, XM_011535107.4:c.1606A>G, XM_011535107.3:c.1606A>G, XM_011535107.2:c.1606A>G, XM_011535107.1:c.1606A>G, XM_011535104.3:c.1486A>G, XM_011535104.2:c.1486A>G, XM_011535104.1:c.1486A>G, XM_011535113.3:c.1606A>G, XM_011535113.2:c.1606A>G, XM_011535113.1:c.1606A>G, XM_017020625.3:c.1606A>G, XM_017020625.2:c.1606A>G, XM_017020625.1:c.1606A>G, XM_011535103.2:c.1606A>G, XM_005266419.2:c.1486A>G, XM_005266419.1:c.1486A>G, XM_011535106.2:c.1606A>G, XM_017020626.2:c.1606A>G, XM_017020626.1:c.1606A>G, XM_047430383.1:c.1486A>G, XM_024449369.1:c.1012A>G, NP_057613.4:p.Lys536Glu, NP_001300670.1:p.Lys496Glu, XP_011533411.1:p.Lys376Glu, XP_011533409.1:p.Lys536Glu, XP_011533406.1:p.Lys496Glu, XP_011533415.1:p.Lys536Glu, XP_016876114.1:p.Lys536Glu, XP_011533405.1:p.Lys536Glu, XP_005266476.1:p.Lys496Glu, XP_011533408.1:p.Lys536Glu, XP_016876115.1:p.Lys536Glu, XP_047286339.1:p.Lys496Glu, XP_024305137.1:p.Lys338Glu

              7.

              rs1486378338 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                13:25571659 (GRCh38)
                13:26145797 (GRCh37)
                Canonical SPDI:
                NC_000013.11:25571658:A:G
                Gene:
                ATP8A2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000013.11:g.25571659A>G, NC_000013.10:g.26145797A>G, NG_042855.1:g.204649A>G, NM_016529.6:c.1629A>G, NM_016529.5:c.1629A>G, NM_016529.4:c.1629A>G, NM_001411005.1:c.1629A>G, NM_001313741.1:c.1509A>G, NM_001411006.1:c.1629A>G, XM_011535109.4:c.1149A>G, XM_011535109.3:c.1149A>G, XM_011535109.2:c.1149A>G, XM_011535109.1:c.1149A>G, XM_011535107.4:c.1629A>G, XM_011535107.3:c.1629A>G, XM_011535107.2:c.1629A>G, XM_011535107.1:c.1629A>G, XM_011535104.3:c.1509A>G, XM_011535104.2:c.1509A>G, XM_011535104.1:c.1509A>G, XM_011535113.3:c.1629A>G, XM_011535113.2:c.1629A>G, XM_011535113.1:c.1629A>G, XM_017020625.3:c.1629A>G, XM_017020625.2:c.1629A>G, XM_017020625.1:c.1629A>G, XM_011535103.2:c.1629A>G, XM_005266419.2:c.1509A>G, XM_005266419.1:c.1509A>G, XM_011535106.2:c.1629A>G, XM_017020626.2:c.1629A>G, XM_017020626.1:c.1629A>G, XM_047430383.1:c.1509A>G, XM_024449369.1:c.1035A>G

                8.

                rs1484880909 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:25769189 (GRCh38)
                  13:26343327 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:25769188:G:A
                  Gene:
                  ATP8A2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000013.11:g.25769189G>A, NG_042855.1:g.402179G>A, NM_016529.6:c.2528G>A, NM_016529.5:c.2528G>A, NM_016529.4:c.2528G>A, NM_001411005.1:c.2528G>A, NM_001313741.1:c.2408G>A, NM_001411006.1:c.2528G>A, NT_187593.1:g.63479C>T, NC_000013.10:g.26343327G>A, XM_011535109.4:c.2048G>A, XM_011535109.3:c.2048G>A, XM_011535109.2:c.2048G>A, XM_011535109.1:c.2048G>A, XM_011535107.4:c.2528G>A, XM_011535107.3:c.2528G>A, XM_011535107.2:c.2528G>A, XM_011535107.1:c.2528G>A, XM_011535104.3:c.2408G>A, XM_011535104.2:c.2408G>A, XM_011535104.1:c.2408G>A, XM_011535103.2:c.2528G>A, XM_005266419.2:c.2408G>A, XM_005266419.1:c.2408G>A, XM_011535106.2:c.2528G>A, XM_047430383.1:c.2408G>A, XM_024449369.1:c.1934G>A, NP_057613.4:p.Gly843Asp, NP_001300670.1:p.Gly803Asp, XP_011533411.1:p.Gly683Asp, XP_011533409.1:p.Gly843Asp, XP_011533406.1:p.Gly803Asp, XP_011533405.1:p.Gly843Asp, XP_005266476.1:p.Gly803Asp, XP_011533408.1:p.Gly843Asp, XP_047286339.1:p.Gly803Asp, XP_024305137.1:p.Gly645Asp

                  9.

                  rs1482862551 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    13:25769075 (GRCh38)
                    13:26343213 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:25769074:T:C
                    Gene:
                    ATP8A2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000013.11:g.25769075T>C, NG_042855.1:g.402065T>C, NM_016529.6:c.2414T>C, NM_016529.5:c.2414T>C, NM_016529.4:c.2414T>C, NM_001411005.1:c.2414T>C, NM_001313741.1:c.2294T>C, NM_001411006.1:c.2414T>C, NT_187593.1:g.63593A>G, NC_000013.10:g.26343213T>C, XM_011535109.4:c.1934T>C, XM_011535109.3:c.1934T>C, XM_011535109.2:c.1934T>C, XM_011535109.1:c.1934T>C, XM_011535107.4:c.2414T>C, XM_011535107.3:c.2414T>C, XM_011535107.2:c.2414T>C, XM_011535107.1:c.2414T>C, XM_011535104.3:c.2294T>C, XM_011535104.2:c.2294T>C, XM_011535104.1:c.2294T>C, XM_011535103.2:c.2414T>C, XM_005266419.2:c.2294T>C, XM_005266419.1:c.2294T>C, XM_011535106.2:c.2414T>C, XM_047430383.1:c.2294T>C, XM_024449369.1:c.1820T>C, NP_057613.4:p.Val805Ala, NP_001300670.1:p.Val765Ala, XP_011533411.1:p.Val645Ala, XP_011533409.1:p.Val805Ala, XP_011533406.1:p.Val765Ala, XP_011533405.1:p.Val805Ala, XP_005266476.1:p.Val765Ala, XP_011533408.1:p.Val805Ala, XP_047286339.1:p.Val765Ala, XP_024305137.1:p.Val607Ala

                    10.

                    rs1482816244 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      13:25769112 (GRCh38)
                      13:26343250 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:25769111:C:A,NC_000013.11:25769111:C:T
                      Gene:
                      ATP8A2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.00068/2 (KOREAN)
                      HGVS:
                      NC_000013.11:g.25769112C>A, NC_000013.11:g.25769112C>T, NG_042855.1:g.402102C>A, NG_042855.1:g.402102C>T, NM_016529.6:c.2451C>A, NM_016529.6:c.2451C>T, NM_016529.5:c.2451C>A, NM_016529.5:c.2451C>T, NM_016529.4:c.2451C>A, NM_016529.4:c.2451C>T, NM_001411005.1:c.2451C>A, NM_001411005.1:c.2451C>T, NM_001313741.1:c.2331C>A, NM_001313741.1:c.2331C>T, NM_001411006.1:c.2451C>A, NM_001411006.1:c.2451C>T, NT_187593.1:g.63556G>T, NT_187593.1:g.63556G>A, NC_000013.10:g.26343250C>A, NC_000013.10:g.26343250C>T, XM_011535109.4:c.1971C>A, XM_011535109.4:c.1971C>T, XM_011535109.3:c.1971C>A, XM_011535109.3:c.1971C>T, XM_011535109.2:c.1971C>A, XM_011535109.2:c.1971C>T, XM_011535109.1:c.1971C>A, XM_011535109.1:c.1971C>T, XM_011535107.4:c.2451C>A, XM_011535107.4:c.2451C>T, XM_011535107.3:c.2451C>A, XM_011535107.3:c.2451C>T, XM_011535107.2:c.2451C>A, XM_011535107.2:c.2451C>T, XM_011535107.1:c.2451C>A, XM_011535107.1:c.2451C>T, XM_011535104.3:c.2331C>A, XM_011535104.3:c.2331C>T, XM_011535104.2:c.2331C>A, XM_011535104.2:c.2331C>T, XM_011535104.1:c.2331C>A, XM_011535104.1:c.2331C>T, XM_011535103.2:c.2451C>A, XM_011535103.2:c.2451C>T, XM_005266419.2:c.2331C>A, XM_005266419.2:c.2331C>T, XM_005266419.1:c.2331C>A, XM_005266419.1:c.2331C>T, XM_011535106.2:c.2451C>A, XM_011535106.2:c.2451C>T, XM_047430383.1:c.2331C>A, XM_047430383.1:c.2331C>T, XM_024449369.1:c.1857C>A, XM_024449369.1:c.1857C>T

                      11.

                      rs1481836033 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:25541939 (GRCh38)
                        13:26116077 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:25541938:C:T
                        Gene:
                        ATP8A2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.25541939C>T, NC_000013.10:g.26116077C>T, NG_042855.1:g.174929C>T, NM_016529.6:c.672C>T, NM_016529.5:c.672C>T, NM_016529.4:c.672C>T, NM_001411005.1:c.672C>T, NM_001313741.1:c.552C>T, NM_001411006.1:c.672C>T, XM_011535109.4:c.192C>T, XM_011535109.3:c.192C>T, XM_011535109.2:c.192C>T, XM_011535109.1:c.192C>T, XM_011535107.4:c.672C>T, XM_011535107.3:c.672C>T, XM_011535107.2:c.672C>T, XM_011535107.1:c.672C>T, XM_011535104.3:c.552C>T, XM_011535104.2:c.552C>T, XM_011535104.1:c.552C>T, XM_011535113.3:c.672C>T, XM_011535113.2:c.672C>T, XM_011535113.1:c.672C>T, XM_017020625.3:c.672C>T, XM_017020625.2:c.672C>T, XM_017020625.1:c.672C>T, XM_011535103.2:c.672C>T, XM_005266419.2:c.552C>T, XM_005266419.1:c.552C>T, XM_011535106.2:c.672C>T, XM_017020626.2:c.672C>T, XM_017020626.1:c.672C>T, XM_047430383.1:c.552C>T, XM_024449369.1:c.78C>T

                        12.

                        rs1481652519 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:25860256 (GRCh38)
                          13:26434394 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:25860255:A:G
                          Gene:
                          ATP8A2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000008/2 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1481444373 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TT>- [Show Flanks]
                            Chromosome:
                            13:25542027 (GRCh38)
                            13:26116165 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:25542026:TT:
                            Gene:
                            ATP8A2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.25542027_25542028del, NC_000013.10:g.26116165_26116166del, NG_042855.1:g.175017_175018del, NM_016529.6:c.760_761del, NM_016529.5:c.760_761del, NM_016529.4:c.760_761del, NM_001411005.1:c.760_761del, NM_001313741.1:c.640_641del, NM_001411006.1:c.760_761del, XM_011535109.4:c.280_281del, XM_011535109.3:c.280_281del, XM_011535109.2:c.280_281del, XM_011535109.1:c.280_281del, XM_011535107.4:c.760_761del, XM_011535107.3:c.760_761del, XM_011535107.2:c.760_761del, XM_011535107.1:c.760_761del, XM_011535104.3:c.640_641del, XM_011535104.2:c.640_641del, XM_011535104.1:c.640_641del, XM_011535113.3:c.760_761del, XM_011535113.2:c.760_761del, XM_011535113.1:c.760_761del, XM_017020625.3:c.760_761del, XM_017020625.2:c.760_761del, XM_017020625.1:c.760_761del, XM_011535103.2:c.760_761del, XM_005266419.2:c.640_641del, XM_005266419.1:c.640_641del, XM_011535106.2:c.760_761del, XM_017020626.2:c.760_761del, XM_017020626.1:c.760_761del, XM_047430383.1:c.640_641del, XM_024449369.1:c.166_167del, NP_057613.4:p.Leu254fs, NP_001300670.1:p.Leu214fs, XP_011533411.1:p.Leu94fs, XP_011533409.1:p.Leu254fs, XP_011533406.1:p.Leu214fs, XP_011533415.1:p.Leu254fs, XP_016876114.1:p.Leu254fs, XP_011533405.1:p.Leu254fs, XP_005266476.1:p.Leu214fs, XP_011533408.1:p.Leu254fs, XP_016876115.1:p.Leu254fs, XP_047286339.1:p.Leu214fs, XP_024305137.1:p.Leu56fs

                            14.

                            rs1481374591 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              13:25532317 (GRCh38)
                              13:26106455 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:25532316:G:A
                              Gene:
                              ATP8A2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                              HGVS:
                              NC_000013.11:g.25532317G>A, NC_000013.10:g.26106455G>A, NG_042855.1:g.165307G>A, NM_016529.6:c.466G>A, NM_016529.5:c.466G>A, NM_016529.4:c.466G>A, NM_001411005.1:c.466G>A, NM_001313741.1:c.346G>A, NM_001411006.1:c.466G>A, XM_011535109.4:c.-15G>A, XM_011535109.3:c.-15G>A, XM_011535109.2:c.-15G>A, XM_011535109.1:c.-15G>A, XM_011535107.4:c.466G>A, XM_011535107.3:c.466G>A, XM_011535107.2:c.466G>A, XM_011535107.1:c.466G>A, XM_011535104.3:c.346G>A, XM_011535104.2:c.346G>A, XM_011535104.1:c.346G>A, XM_011535113.3:c.466G>A, XM_011535113.2:c.466G>A, XM_011535113.1:c.466G>A, XM_017020625.3:c.466G>A, XM_017020625.2:c.466G>A, XM_017020625.1:c.466G>A, XM_011535103.2:c.466G>A, XM_005266419.2:c.346G>A, XM_005266419.1:c.346G>A, XM_011535106.2:c.466G>A, XM_017020626.2:c.466G>A, XM_017020626.1:c.466G>A, XM_047430383.1:c.346G>A, NP_057613.4:p.Val156Met, NP_001300670.1:p.Val116Met, XP_011533409.1:p.Val156Met, XP_011533406.1:p.Val116Met, XP_011533415.1:p.Val156Met, XP_016876114.1:p.Val156Met, XP_011533405.1:p.Val156Met, XP_005266476.1:p.Val116Met, XP_011533408.1:p.Val156Met, XP_016876115.1:p.Val156Met, XP_047286339.1:p.Val116Met

                              15.

                              rs1479874932 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                13:25540344 (GRCh38)
                                13:26114482 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:25540343:G:T
                                Gene:
                                ATP8A2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000013.11:g.25540344G>T, NC_000013.10:g.26114482G>T, NG_042855.1:g.173334G>T, NM_016529.6:c.607G>T, NM_016529.5:c.607G>T, NM_016529.4:c.607G>T, NM_001411005.1:c.607G>T, NM_001313741.1:c.487G>T, NM_001411006.1:c.607G>T, XM_011535109.4:c.127G>T, XM_011535109.3:c.127G>T, XM_011535109.2:c.127G>T, XM_011535109.1:c.127G>T, XM_011535107.4:c.607G>T, XM_011535107.3:c.607G>T, XM_011535107.2:c.607G>T, XM_011535107.1:c.607G>T, XM_011535104.3:c.487G>T, XM_011535104.2:c.487G>T, XM_011535104.1:c.487G>T, XM_011535113.3:c.607G>T, XM_011535113.2:c.607G>T, XM_011535113.1:c.607G>T, XM_017020625.3:c.607G>T, XM_017020625.2:c.607G>T, XM_017020625.1:c.607G>T, XM_011535103.2:c.607G>T, XM_005266419.2:c.487G>T, XM_005266419.1:c.487G>T, XM_011535106.2:c.607G>T, XM_017020626.2:c.607G>T, XM_017020626.1:c.607G>T, XM_047430383.1:c.487G>T, XM_024449369.1:c.13G>T, NP_057613.4:p.Glu203Ter, NP_001300670.1:p.Glu163Ter, XP_011533411.1:p.Glu43Ter, XP_011533409.1:p.Glu203Ter, XP_011533406.1:p.Glu163Ter, XP_011533415.1:p.Glu203Ter, XP_016876114.1:p.Glu203Ter, XP_011533405.1:p.Glu203Ter, XP_005266476.1:p.Glu163Ter, XP_011533408.1:p.Glu203Ter, XP_016876115.1:p.Glu203Ter, XP_047286339.1:p.Glu163Ter, XP_024305137.1:p.Glu5Ter

                                16.

                                rs1479737214 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  13:26012538 (GRCh38)
                                  13:26586676 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:26012537:G:T
                                  Gene:
                                  ATP8A2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1479265535 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    13:25553845 (GRCh38)
                                    13:26127983 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:25553844:C:G
                                    Gene:
                                    ATP8A2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,stop_gained
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.25553845C>G, NC_000013.10:g.26127983C>G, NG_042855.1:g.186835C>G, NM_016529.6:c.1110C>G, NM_016529.5:c.1110C>G, NM_016529.4:c.1110C>G, NM_001411005.1:c.1110C>G, NM_001313741.1:c.990C>G, NM_001411006.1:c.1110C>G, XM_011535109.4:c.630C>G, XM_011535109.3:c.630C>G, XM_011535109.2:c.630C>G, XM_011535109.1:c.630C>G, XM_011535107.4:c.1110C>G, XM_011535107.3:c.1110C>G, XM_011535107.2:c.1110C>G, XM_011535107.1:c.1110C>G, XM_011535104.3:c.990C>G, XM_011535104.2:c.990C>G, XM_011535104.1:c.990C>G, XM_011535113.3:c.1110C>G, XM_011535113.2:c.1110C>G, XM_011535113.1:c.1110C>G, XM_017020625.3:c.1110C>G, XM_017020625.2:c.1110C>G, XM_017020625.1:c.1110C>G, XM_011535103.2:c.1110C>G, XM_005266419.2:c.990C>G, XM_005266419.1:c.990C>G, XM_011535106.2:c.1110C>G, XM_017020626.2:c.1110C>G, XM_017020626.1:c.1110C>G, XM_047430383.1:c.990C>G, XM_024449369.1:c.516C>G, NP_057613.4:p.Tyr370Ter, NP_001300670.1:p.Tyr330Ter, XP_011533411.1:p.Tyr210Ter, XP_011533409.1:p.Tyr370Ter, XP_011533406.1:p.Tyr330Ter, XP_011533415.1:p.Tyr370Ter, XP_016876114.1:p.Tyr370Ter, XP_011533405.1:p.Tyr370Ter, XP_005266476.1:p.Tyr330Ter, XP_011533408.1:p.Tyr370Ter, XP_016876115.1:p.Tyr370Ter, XP_047286339.1:p.Tyr330Ter, XP_024305137.1:p.Tyr172Ter

                                    18.

                                    rs1479115492 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      13:25577110 (GRCh38)
                                      13:26151248 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:25577109:G:A
                                      Gene:
                                      ATP8A2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000013.11:g.25577110G>A, NC_000013.10:g.26151248G>A, NG_042855.1:g.210100G>A, NM_016529.6:c.1754G>A, NM_016529.5:c.1754G>A, NM_016529.4:c.1754G>A, NM_001411005.1:c.1754G>A, NM_001313741.1:c.1634G>A, NM_001411006.1:c.1754G>A, XM_011535109.4:c.1274G>A, XM_011535109.3:c.1274G>A, XM_011535109.2:c.1274G>A, XM_011535109.1:c.1274G>A, XM_011535107.4:c.1754G>A, XM_011535107.3:c.1754G>A, XM_011535107.2:c.1754G>A, XM_011535107.1:c.1754G>A, XM_011535104.3:c.1634G>A, XM_011535104.2:c.1634G>A, XM_011535104.1:c.1634G>A, XM_011535113.3:c.1754G>A, XM_011535113.2:c.1754G>A, XM_011535113.1:c.1754G>A, XM_017020625.3:c.1754G>A, XM_017020625.2:c.1754G>A, XM_017020625.1:c.1754G>A, XM_011535103.2:c.1754G>A, XM_005266419.2:c.1634G>A, XM_005266419.1:c.1634G>A, XM_011535106.2:c.1754G>A, XM_017020626.2:c.1754G>A, XM_017020626.1:c.1754G>A, XM_047430383.1:c.1634G>A, XM_024449369.1:c.1160G>A, NP_057613.4:p.Gly585Glu, NP_001300670.1:p.Gly545Glu, XP_011533411.1:p.Gly425Glu, XP_011533409.1:p.Gly585Glu, XP_011533406.1:p.Gly545Glu, XP_011533415.1:p.Gly585Glu, XP_016876114.1:p.Gly585Glu, XP_011533405.1:p.Gly585Glu, XP_005266476.1:p.Gly545Glu, XP_011533408.1:p.Gly585Glu, XP_016876115.1:p.Gly585Glu, XP_047286339.1:p.Gly545Glu, XP_024305137.1:p.Gly387Glu

                                      19.

                                      rs1478896287 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:25543332 (GRCh38)
                                        13:26117470 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:25543331:C:T
                                        Gene:
                                        ATP8A2 (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=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000013.11:g.25543332C>T, NC_000013.10:g.26117470C>T, NG_042855.1:g.176322C>T, NM_016529.6:c.821C>T, NM_016529.5:c.821C>T, NM_016529.4:c.821C>T, NM_001411005.1:c.821C>T, NM_001313741.1:c.701C>T, NM_001411006.1:c.821C>T, XM_011535109.4:c.341C>T, XM_011535109.3:c.341C>T, XM_011535109.2:c.341C>T, XM_011535109.1:c.341C>T, XM_011535107.4:c.821C>T, XM_011535107.3:c.821C>T, XM_011535107.2:c.821C>T, XM_011535107.1:c.821C>T, XM_011535104.3:c.701C>T, XM_011535104.2:c.701C>T, XM_011535104.1:c.701C>T, XM_011535113.3:c.821C>T, XM_011535113.2:c.821C>T, XM_011535113.1:c.821C>T, XM_017020625.3:c.821C>T, XM_017020625.2:c.821C>T, XM_017020625.1:c.821C>T, XM_011535103.2:c.821C>T, XM_005266419.2:c.701C>T, XM_005266419.1:c.701C>T, XM_011535106.2:c.821C>T, XM_017020626.2:c.821C>T, XM_017020626.1:c.821C>T, XM_047430383.1:c.701C>T, XM_024449369.1:c.227C>T, NP_057613.4:p.Thr274Ile, NP_001300670.1:p.Thr234Ile, XP_011533411.1:p.Thr114Ile, XP_011533409.1:p.Thr274Ile, XP_011533406.1:p.Thr234Ile, XP_011533415.1:p.Thr274Ile, XP_016876114.1:p.Thr274Ile, XP_011533405.1:p.Thr274Ile, XP_005266476.1:p.Thr234Ile, XP_011533408.1:p.Thr274Ile, XP_016876115.1:p.Thr274Ile, XP_047286339.1:p.Thr234Ile, XP_024305137.1:p.Thr76Ile

                                        20.

                                        rs1476635278 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          13:25469046 (GRCh38)
                                          13:26043184 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:25469045:A:G
                                          Gene:
                                          ATP8A2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000013.11:g.25469046A>G, NC_000013.10:g.26043184A>G, NG_042855.1:g.102036A>G, NM_016529.6:c.146A>G, NM_016529.5:c.146A>G, NM_016529.4:c.146A>G, NM_001411005.1:c.146A>G, NM_001313741.1:c.26A>G, NM_001411006.1:c.146A>G, XM_011535107.4:c.146A>G, XM_011535107.3:c.146A>G, XM_011535107.2:c.146A>G, XM_011535107.1:c.146A>G, XM_011535113.3:c.146A>G, XM_011535113.2:c.146A>G, XM_011535113.1:c.146A>G, XM_017020625.3:c.146A>G, XM_017020625.2:c.146A>G, XM_017020625.1:c.146A>G, XM_011535103.2:c.146A>G, XM_005266419.2:c.26A>G, XM_005266419.1:c.26A>G, XM_011535106.2:c.146A>G, XM_017020626.2:c.146A>G, XM_017020626.1:c.146A>G, XM_047430383.1:c.26A>G, NP_057613.4:p.Asp49Gly, NP_001300670.1:p.Asp9Gly, XP_011533409.1:p.Asp49Gly, XP_011533415.1:p.Asp49Gly, XP_016876114.1:p.Asp49Gly, XP_011533405.1:p.Asp49Gly, XP_005266476.1:p.Asp9Gly, XP_011533408.1:p.Asp49Gly, XP_016876115.1:p.Asp49Gly, XP_047286339.1:p.Asp9Gly

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