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Items: 1 to 20 of 1208

1.

rs1490752286 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:49862340 (GRCh38)
    15:50154537 (GRCh37)
    Canonical SPDI:
    NC_000015.10:49862339:A:G
    Gene:
    ATP8B4 (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000015.10:g.49862340A>G, NC_000015.9:g.50154537A>G, XM_011522052.4:c.3286T>C, XM_011522052.3:c.3286T>C, XM_011522052.2:c.3286T>C, XM_011522052.1:c.3286T>C, XM_011522056.4:c.3286T>C, XM_011522056.3:c.3286T>C, XM_011522056.2:c.3592T>C, XM_011522056.1:c.3286T>C, NM_024837.4:c.3202T>C, NM_024837.3:c.3202T>C, XM_011522058.4:c.2959T>C, XM_011522058.3:c.2959T>C, XM_011522058.2:c.2959T>C, XM_011522058.1:c.2959T>C, XM_011522046.3:c.3397T>C, XM_011522046.2:c.3397T>C, XM_011522046.1:c.3397T>C, XM_011522049.3:c.3286T>C, XM_011522049.2:c.3286T>C, XM_011522049.1:c.3286T>C, XM_011522047.3:c.3286T>C, XM_011522047.2:c.3286T>C, XM_011522047.1:c.3286T>C, XM_017022587.3:c.3202T>C, XM_017022587.2:c.3202T>C, XM_017022587.1:c.3508T>C, XM_024450065.2:c.3313T>C, XM_024450065.1:c.3313T>C, XM_017022591.2:c.3286T>C, XM_017022591.1:c.3286T>C, NR_073598.2:n.3514T>C, NR_073598.1:n.3451T>C, XM_024450066.2:c.3238T>C, XM_024450066.1:c.3238T>C, XM_011522048.2:c.3286T>C, XM_011522048.1:c.3286T>C, XM_024450067.2:c.3208T>C, XM_024450067.1:c.3208T>C, XM_011522053.2:c.3286T>C, XM_011522053.1:c.3286T>C, NR_073596.2:n.3254T>C, NR_073596.1:n.3243T>C, NR_073597.2:n.3207T>C, NR_073597.1:n.3196T>C, XM_011522069.2:c.2437T>C, XM_011522069.1:c.2437T>C, XM_011522070.2:c.1843T>C, XM_011522070.1:c.1843T>C, XM_047433098.1:c.2569T>C, XM_047433082.1:c.3286T>C, XM_047433084.1:c.3184T>C, XM_047433085.1:c.3154T>C, XM_047433086.1:c.3124T>C, XM_047433083.1:c.3202T>C, XM_047433087.1:c.3100T>C, XM_011522060.1:c.2905T>C, XM_047433088.1:c.3073T>C, XM_011522061.1:c.2905T>C, XM_047433091.1:c.2965T>C, XM_047433089.1:c.3013T>C, XM_047433090.1:c.2989T>C, XM_017022594.1:c.2959T>C, XM_011522059.1:c.2941T>C, XM_011522062.1:c.2905T>C, XM_011522063.1:c.2905T>C, XM_047433096.1:c.2800T>C, XM_047433092.1:c.2875T>C, XM_047433093.1:c.2854T>C, XM_047433094.1:c.2800T>C, XM_047433097.1:c.2569T>C, XM_024450069.1:c.2650T>C, XP_011520354.1:p.Trp1096Arg, XP_011520358.3:p.Trp1096Arg, NP_079113.2:p.Trp1068Arg, XP_011520360.1:p.Trp987Arg, XP_011520348.1:p.Trp1133Arg, XP_011520351.1:p.Trp1096Arg, XP_011520349.1:p.Trp1096Arg, XP_016878076.2:p.Trp1068Arg, XP_024305833.1:p.Trp1105Arg, XP_016878080.1:p.Trp1096Arg, XP_024305834.1:p.Trp1080Arg, XP_011520350.1:p.Trp1096Arg, XP_024305835.1:p.Trp1070Arg, XP_011520355.1:p.Trp1096Arg, XP_011520371.1:p.Trp813Arg, XP_011520372.1:p.Trp615Arg, XP_047289054.1:p.Trp857Arg, XP_047289038.1:p.Trp1096Arg, XP_047289040.1:p.Trp1062Arg, XP_047289041.1:p.Trp1052Arg, XP_047289042.1:p.Trp1042Arg, XP_047289039.1:p.Trp1068Arg, XP_047289043.1:p.Trp1034Arg, XP_011520362.1:p.Trp969Arg, XP_047289044.1:p.Trp1025Arg, XP_011520363.1:p.Trp969Arg, XP_047289047.1:p.Trp989Arg, XP_047289045.1:p.Trp1005Arg, XP_047289046.1:p.Trp997Arg, XP_016878083.1:p.Trp987Arg, XP_011520361.1:p.Trp981Arg, XP_011520364.1:p.Trp969Arg, XP_011520365.1:p.Trp969Arg, XP_047289052.1:p.Trp934Arg, XP_047289048.1:p.Trp959Arg, XP_047289049.1:p.Trp952Arg, XP_047289050.1:p.Trp934Arg, XP_047289053.1:p.Trp857Arg, XP_024305837.1:p.Trp884Arg

    2.

    rs1490339595 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:50010860 (GRCh38)
      15:50303057 (GRCh37)
      Canonical SPDI:
      NC_000015.10:50010859:A:G
      Gene:
      ATP8B4 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.50010860A>G, NC_000015.9:g.50303057A>G, XM_011522052.4:c.420T>C, XM_011522052.3:c.420T>C, XM_011522052.2:c.420T>C, XM_011522052.1:c.420T>C, XM_011522056.4:c.420T>C, XM_011522056.3:c.420T>C, XM_011522056.2:c.726T>C, XM_011522056.1:c.420T>C, NM_024837.4:c.420T>C, NM_024837.3:c.420T>C, XM_011522058.4:c.93T>C, XM_011522058.3:c.93T>C, XM_011522058.2:c.93T>C, XM_011522058.1:c.93T>C, XM_011522046.3:c.531T>C, XM_011522046.2:c.531T>C, XM_011522046.1:c.531T>C, XM_011522049.3:c.420T>C, XM_011522049.2:c.420T>C, XM_011522049.1:c.420T>C, XM_011522047.3:c.420T>C, XM_011522047.2:c.420T>C, XM_011522047.1:c.420T>C, XM_017022587.3:c.420T>C, XM_017022587.2:c.420T>C, XM_017022587.1:c.726T>C, XM_024450065.2:c.531T>C, XM_024450065.1:c.531T>C, XM_017022591.2:c.420T>C, XM_017022591.1:c.420T>C, NR_073598.2:n.732T>C, NR_073598.1:n.669T>C, XM_024450066.2:c.531T>C, XM_024450066.1:c.531T>C, XM_011522048.2:c.420T>C, XM_011522048.1:c.420T>C, XM_024450067.2:c.531T>C, XM_024450067.1:c.531T>C, XM_011522053.2:c.420T>C, XM_011522053.1:c.420T>C, NR_073596.2:n.661T>C, NR_073596.1:n.650T>C, NR_073597.2:n.573T>C, NR_073597.1:n.562T>C, XM_024450068.2:c.531T>C, XM_024450068.1:c.531T>C, XM_024450070.2:c.531T>C, XM_024450070.1:c.531T>C, XR_002957687.2:n.736T>C, XR_002957687.1:n.876T>C, XM_047433098.1:c.-60T>C, XM_047433082.1:c.420T>C, XM_047433084.1:c.318T>C, XM_047433085.1:c.531T>C, XM_047433086.1:c.531T>C, XM_047433083.1:c.420T>C, XM_047433087.1:c.318T>C, XM_047433099.1:c.420T>C, XM_011522060.1:c.39T>C, XM_047433088.1:c.207T>C, XM_011522061.1:c.39T>C, XM_047433091.1:c.531T>C, XM_047433089.1:c.420T>C, XM_047433090.1:c.207T>C, XM_017022594.1:c.93T>C, XM_011522059.1:c.75T>C, XM_011522062.1:c.39T>C, XM_011522063.1:c.39T>C, XM_047433096.1:c.207T>C, XM_047433092.1:c.93T>C, XM_047433093.1:c.420T>C, XM_047433094.1:c.207T>C, XM_047433100.1:c.531T>C

      3.

      rs1489685006 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        15:49860218 (GRCh38)
        15:50152415 (GRCh37)
        Canonical SPDI:
        NC_000015.10:49860217:G:T
        Gene:
        ATP8B4 (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.49860218G>T, NC_000015.9:g.50152415G>T, XM_011522052.4:c.3639C>A, XM_011522052.3:c.3639C>A, XM_011522052.2:c.3639C>A, XM_011522052.1:c.3639C>A, XM_011522056.4:c.3639C>A, XM_011522056.3:c.3639C>A, XM_011522056.2:c.3945C>A, XM_011522056.1:c.3639C>A, NM_024837.4:c.3555C>A, NM_024837.3:c.3555C>A, XM_011522058.4:c.3312C>A, XM_011522058.3:c.3312C>A, XM_011522058.2:c.3312C>A, XM_011522058.1:c.3312C>A, XM_011522046.3:c.3750C>A, XM_011522046.2:c.3750C>A, XM_011522046.1:c.3750C>A, XM_011522049.3:c.3639C>A, XM_011522049.2:c.3639C>A, XM_011522049.1:c.3639C>A, XM_011522047.3:c.3639C>A, XM_011522047.2:c.3639C>A, XM_011522047.1:c.3639C>A, XM_017022587.3:c.3555C>A, XM_017022587.2:c.3555C>A, XM_017022587.1:c.3861C>A, XM_024450065.2:c.3666C>A, XM_024450065.1:c.3666C>A, XM_017022591.2:c.3639C>A, XM_017022591.1:c.3639C>A, NR_073598.2:n.3867C>A, NR_073598.1:n.3804C>A, XM_024450066.2:c.3591C>A, XM_024450066.1:c.3591C>A, XM_011522048.2:c.3639C>A, XM_011522048.1:c.3639C>A, XM_024450067.2:c.3561C>A, XM_024450067.1:c.3561C>A, XM_011522053.2:c.3639C>A, XM_011522053.1:c.3639C>A, NR_073596.2:n.3607C>A, NR_073596.1:n.3596C>A, NR_073597.2:n.3560C>A, NR_073597.1:n.3549C>A, XM_011522069.2:c.2790C>A, XM_011522069.1:c.2790C>A, XM_011522070.2:c.2196C>A, XM_011522070.1:c.2196C>A, XM_047433098.1:c.2922C>A, XM_047433082.1:c.3639C>A, XM_047433084.1:c.3537C>A, XM_047433085.1:c.3507C>A, XM_047433086.1:c.3477C>A, XM_047433083.1:c.3555C>A, XM_047433087.1:c.3453C>A, XM_011522060.1:c.3258C>A, XM_047433088.1:c.3426C>A, XM_011522061.1:c.3258C>A, XM_047433091.1:c.3318C>A, XM_047433089.1:c.3366C>A, XM_047433090.1:c.3342C>A, XM_017022594.1:c.3312C>A, XM_011522059.1:c.3294C>A, XM_011522062.1:c.3258C>A, XM_011522063.1:c.3258C>A, XM_047433096.1:c.3153C>A, XM_047433092.1:c.3228C>A, XM_047433093.1:c.3207C>A, XM_047433094.1:c.3153C>A, XM_047433097.1:c.2922C>A, XM_024450069.1:c.3003C>A, XP_011520354.1:p.Ser1213Arg, XP_011520358.3:p.Ser1213Arg, NP_079113.2:p.Ser1185Arg, XP_011520360.1:p.Ser1104Arg, XP_011520348.1:p.Ser1250Arg, XP_011520351.1:p.Ser1213Arg, XP_011520349.1:p.Ser1213Arg, XP_016878076.2:p.Ser1185Arg, XP_024305833.1:p.Ser1222Arg, XP_016878080.1:p.Ser1213Arg, XP_024305834.1:p.Ser1197Arg, XP_011520350.1:p.Ser1213Arg, XP_024305835.1:p.Ser1187Arg, XP_011520355.1:p.Ser1213Arg, XP_011520371.1:p.Ser930Arg, XP_011520372.1:p.Ser732Arg, XP_047289054.1:p.Ser974Arg, XP_047289038.1:p.Ser1213Arg, XP_047289040.1:p.Ser1179Arg, XP_047289041.1:p.Ser1169Arg, XP_047289042.1:p.Ser1159Arg, XP_047289039.1:p.Ser1185Arg, XP_047289043.1:p.Ser1151Arg, XP_011520362.1:p.Ser1086Arg, XP_047289044.1:p.Ser1142Arg, XP_011520363.1:p.Ser1086Arg, XP_047289047.1:p.Ser1106Arg, XP_047289045.1:p.Ser1122Arg, XP_047289046.1:p.Ser1114Arg, XP_016878083.1:p.Ser1104Arg, XP_011520361.1:p.Ser1098Arg, XP_011520364.1:p.Ser1086Arg, XP_011520365.1:p.Ser1086Arg, XP_047289052.1:p.Ser1051Arg, XP_047289048.1:p.Ser1076Arg, XP_047289049.1:p.Ser1069Arg, XP_047289050.1:p.Ser1051Arg, XP_047289053.1:p.Ser974Arg, XP_024305837.1:p.Ser1001Arg

        4.

        rs1489322080 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          15:49918913 (GRCh38)
          15:50211110 (GRCh37)
          Canonical SPDI:
          NC_000015.10:49918912:T:G
          Gene:
          ATP8B4 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000015.10:g.49918913T>G, NC_000015.9:g.50211110T>G, XM_011522052.4:c.2045A>C, XM_011522052.3:c.2045A>C, XM_011522052.2:c.2045A>C, XM_011522052.1:c.2045A>C, XM_011522056.4:c.2045A>C, XM_011522056.3:c.2045A>C, XM_011522056.2:c.2351A>C, XM_011522056.1:c.2045A>C, NM_024837.4:c.1961A>C, NM_024837.3:c.1961A>C, XM_011522058.4:c.1718A>C, XM_011522058.3:c.1718A>C, XM_011522058.2:c.1718A>C, XM_011522058.1:c.1718A>C, XM_011522046.3:c.2156A>C, XM_011522046.2:c.2156A>C, XM_011522046.1:c.2156A>C, XM_011522049.3:c.2045A>C, XM_011522049.2:c.2045A>C, XM_011522049.1:c.2045A>C, XM_011522047.3:c.2045A>C, XM_011522047.2:c.2045A>C, XM_011522047.1:c.2045A>C, XM_017022587.3:c.1961A>C, XM_017022587.2:c.1961A>C, XM_017022587.1:c.2267A>C, XM_024450065.2:c.2072A>C, XM_024450065.1:c.2072A>C, XM_017022591.2:c.2045A>C, XM_017022591.1:c.2045A>C, NR_073598.2:n.2273A>C, NR_073598.1:n.2210A>C, XM_024450066.2:c.1997A>C, XM_024450066.1:c.1997A>C, XM_011522048.2:c.2045A>C, XM_011522048.1:c.2045A>C, XM_024450067.2:c.1967A>C, XM_024450067.1:c.1967A>C, XM_011522053.2:c.2045A>C, XM_011522053.1:c.2045A>C, NR_073596.2:n.2013A>C, NR_073596.1:n.2002A>C, NR_073597.2:n.2114A>C, NR_073597.1:n.2103A>C, XM_011522069.2:c.1196A>C, XM_011522069.1:c.1196A>C, XM_011522070.2:c.602A>C, XM_011522070.1:c.602A>C, XM_024450068.2:c.2156A>C, XM_024450068.1:c.2156A>C, XM_047433098.1:c.1328A>C, XM_047433082.1:c.2045A>C, XM_047433084.1:c.1943A>C, XM_047433085.1:c.1913A>C, XM_047433086.1:c.1883A>C, XM_047433083.1:c.1961A>C, XM_047433087.1:c.1859A>C, XM_047433099.1:c.1961A>C, XM_011522060.1:c.1664A>C, XM_047433088.1:c.1832A>C, XM_011522061.1:c.1664A>C, XM_047433091.1:c.1724A>C, XM_047433089.1:c.1772A>C, XM_047433090.1:c.1748A>C, XM_017022594.1:c.1718A>C, XM_011522059.1:c.1700A>C, XM_011522062.1:c.1664A>C, XM_011522063.1:c.1664A>C, XM_047433096.1:c.1559A>C, XM_047433092.1:c.1634A>C, XM_047433093.1:c.1613A>C, XM_047433094.1:c.1559A>C, XM_047433097.1:c.1328A>C, XM_024450069.1:c.1409A>C, XM_047433100.1:c.2156A>C, XP_011520354.1:p.Glu682Ala, XP_011520358.3:p.Glu682Ala, NP_079113.2:p.Glu654Ala, XP_011520360.1:p.Glu573Ala, XP_011520348.1:p.Glu719Ala, XP_011520351.1:p.Glu682Ala, XP_011520349.1:p.Glu682Ala, XP_016878076.2:p.Glu654Ala, XP_024305833.1:p.Glu691Ala, XP_016878080.1:p.Glu682Ala, XP_024305834.1:p.Glu666Ala, XP_011520350.1:p.Glu682Ala, XP_024305835.1:p.Glu656Ala, XP_011520355.1:p.Glu682Ala, XP_011520371.1:p.Glu399Ala, XP_011520372.1:p.Glu201Ala, XP_024305836.1:p.Glu719Ala, XP_047289054.1:p.Glu443Ala, XP_047289038.1:p.Glu682Ala, XP_047289040.1:p.Glu648Ala, XP_047289041.1:p.Glu638Ala, XP_047289042.1:p.Glu628Ala, XP_047289039.1:p.Glu654Ala, XP_047289043.1:p.Glu620Ala, XP_047289055.1:p.Glu654Ala, XP_011520362.1:p.Glu555Ala, XP_047289044.1:p.Glu611Ala, XP_011520363.1:p.Glu555Ala, XP_047289047.1:p.Glu575Ala, XP_047289045.1:p.Glu591Ala, XP_047289046.1:p.Glu583Ala, XP_016878083.1:p.Glu573Ala, XP_011520361.1:p.Glu567Ala, XP_011520364.1:p.Glu555Ala, XP_011520365.1:p.Glu555Ala, XP_047289052.1:p.Glu520Ala, XP_047289048.1:p.Glu545Ala, XP_047289049.1:p.Glu538Ala, XP_047289050.1:p.Glu520Ala, XP_047289053.1:p.Glu443Ala, XP_024305837.1:p.Glu470Ala, XP_047289056.1:p.Glu719Ala

          5.

          rs1488744693 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            15:49897312 (GRCh38)
            15:50189509 (GRCh37)
            Canonical SPDI:
            NC_000015.10:49897311:A:G
            Gene:
            ATP8B4 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000015.10:g.49897312A>G, NC_000015.9:g.50189509A>G, XM_011522052.4:c.2761T>C, XM_011522052.3:c.2761T>C, XM_011522052.2:c.2761T>C, XM_011522052.1:c.2761T>C, XM_011522056.4:c.2761T>C, XM_011522056.3:c.2761T>C, XM_011522056.2:c.3067T>C, XM_011522056.1:c.2761T>C, NM_024837.4:c.2677T>C, NM_024837.3:c.2677T>C, XM_011522058.4:c.2434T>C, XM_011522058.3:c.2434T>C, XM_011522058.2:c.2434T>C, XM_011522058.1:c.2434T>C, XM_011522046.3:c.2872T>C, XM_011522046.2:c.2872T>C, XM_011522046.1:c.2872T>C, XM_011522049.3:c.2761T>C, XM_011522049.2:c.2761T>C, XM_011522049.1:c.2761T>C, XM_011522047.3:c.2761T>C, XM_011522047.2:c.2761T>C, XM_011522047.1:c.2761T>C, XM_017022587.3:c.2677T>C, XM_017022587.2:c.2677T>C, XM_017022587.1:c.2983T>C, XM_024450065.2:c.2788T>C, XM_024450065.1:c.2788T>C, XM_017022591.2:c.2761T>C, XM_017022591.1:c.2761T>C, NR_073598.2:n.2989T>C, NR_073598.1:n.2926T>C, XM_024450066.2:c.2713T>C, XM_024450066.1:c.2713T>C, XM_011522048.2:c.2761T>C, XM_011522048.1:c.2761T>C, XM_024450067.2:c.2683T>C, XM_024450067.1:c.2683T>C, XM_011522053.2:c.2761T>C, XM_011522053.1:c.2761T>C, NR_073596.2:n.2729T>C, NR_073596.1:n.2718T>C, NR_073597.2:n.2682T>C, NR_073597.1:n.2671T>C, XM_011522069.2:c.1912T>C, XM_011522069.1:c.1912T>C, XM_011522070.2:c.1318T>C, XM_011522070.1:c.1318T>C, XM_024450068.2:c.2872T>C, XM_024450068.1:c.2872T>C, XM_047433098.1:c.2044T>C, XM_047433082.1:c.2761T>C, XM_047433084.1:c.2659T>C, XM_047433085.1:c.2629T>C, XM_047433086.1:c.2599T>C, XM_047433083.1:c.2677T>C, XM_047433087.1:c.2575T>C, XM_047433099.1:c.2677T>C, XM_011522060.1:c.2380T>C, XM_047433088.1:c.2548T>C, XM_011522061.1:c.2380T>C, XM_047433091.1:c.2440T>C, XM_047433089.1:c.2488T>C, XM_047433090.1:c.2464T>C, XM_017022594.1:c.2434T>C, XM_011522059.1:c.2416T>C, XM_011522062.1:c.2380T>C, XM_011522063.1:c.2380T>C, XM_047433096.1:c.2275T>C, XM_047433092.1:c.2350T>C, XM_047433093.1:c.2329T>C, XM_047433094.1:c.2275T>C, XM_047433097.1:c.2044T>C, XM_024450069.1:c.2125T>C, XP_011520354.1:p.Phe921Leu, XP_011520358.3:p.Phe921Leu, NP_079113.2:p.Phe893Leu, XP_011520360.1:p.Phe812Leu, XP_011520348.1:p.Phe958Leu, XP_011520351.1:p.Phe921Leu, XP_011520349.1:p.Phe921Leu, XP_016878076.2:p.Phe893Leu, XP_024305833.1:p.Phe930Leu, XP_016878080.1:p.Phe921Leu, XP_024305834.1:p.Phe905Leu, XP_011520350.1:p.Phe921Leu, XP_024305835.1:p.Phe895Leu, XP_011520355.1:p.Phe921Leu, XP_011520371.1:p.Phe638Leu, XP_011520372.1:p.Phe440Leu, XP_024305836.1:p.Phe958Leu, XP_047289054.1:p.Phe682Leu, XP_047289038.1:p.Phe921Leu, XP_047289040.1:p.Phe887Leu, XP_047289041.1:p.Phe877Leu, XP_047289042.1:p.Phe867Leu, XP_047289039.1:p.Phe893Leu, XP_047289043.1:p.Phe859Leu, XP_047289055.1:p.Phe893Leu, XP_011520362.1:p.Phe794Leu, XP_047289044.1:p.Phe850Leu, XP_011520363.1:p.Phe794Leu, XP_047289047.1:p.Phe814Leu, XP_047289045.1:p.Phe830Leu, XP_047289046.1:p.Phe822Leu, XP_016878083.1:p.Phe812Leu, XP_011520361.1:p.Phe806Leu, XP_011520364.1:p.Phe794Leu, XP_011520365.1:p.Phe794Leu, XP_047289052.1:p.Phe759Leu, XP_047289048.1:p.Phe784Leu, XP_047289049.1:p.Phe777Leu, XP_047289050.1:p.Phe759Leu, XP_047289053.1:p.Phe682Leu, XP_024305837.1:p.Phe709Leu

            6.

            rs1488553133 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:49996685 (GRCh38)
              15:50288882 (GRCh37)
              Canonical SPDI:
              NC_000015.10:49996684:C:T
              Gene:
              ATP8B4 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.49996685C>T, NC_000015.9:g.50288882C>T, XM_011522052.4:c.665G>A, XM_011522052.3:c.665G>A, XM_011522052.2:c.665G>A, XM_011522052.1:c.665G>A, XM_011522056.4:c.665G>A, XM_011522056.3:c.665G>A, XM_011522056.2:c.971G>A, XM_011522056.1:c.665G>A, NM_024837.4:c.581G>A, NM_024837.3:c.581G>A, XM_011522058.4:c.338G>A, XM_011522058.3:c.338G>A, XM_011522058.2:c.338G>A, XM_011522058.1:c.338G>A, XM_011522046.3:c.776G>A, XM_011522046.2:c.776G>A, XM_011522046.1:c.776G>A, XM_011522049.3:c.665G>A, XM_011522049.2:c.665G>A, XM_011522049.1:c.665G>A, XM_011522047.3:c.665G>A, XM_011522047.2:c.665G>A, XM_011522047.1:c.665G>A, XM_017022587.3:c.581G>A, XM_017022587.2:c.581G>A, XM_017022587.1:c.887G>A, XM_024450065.2:c.692G>A, XM_024450065.1:c.692G>A, XM_017022591.2:c.665G>A, XM_017022591.1:c.665G>A, NR_073598.2:n.893G>A, NR_073598.1:n.830G>A, XM_024450066.2:c.776G>A, XM_024450066.1:c.776G>A, XM_011522048.2:c.665G>A, XM_011522048.1:c.665G>A, XM_024450067.2:c.776G>A, XM_024450067.1:c.776G>A, XM_011522053.2:c.665G>A, XM_011522053.1:c.665G>A, NR_073596.2:n.822G>A, NR_073596.1:n.811G>A, NR_073597.2:n.734G>A, NR_073597.1:n.723G>A, XM_024450068.2:c.776G>A, XM_024450068.1:c.776G>A, XM_024450070.2:c.776G>A, XM_024450070.1:c.776G>A, XR_002957687.2:n.981G>A, XR_002957687.1:n.1121G>A, XM_047433082.1:c.665G>A, XM_047433084.1:c.563G>A, XM_047433085.1:c.692G>A, XM_047433086.1:c.692G>A, XM_047433083.1:c.581G>A, XM_047433087.1:c.479G>A, XM_047433099.1:c.581G>A, XM_011522060.1:c.284G>A, XM_047433088.1:c.452G>A, XM_011522061.1:c.284G>A, XM_047433091.1:c.692G>A, XM_047433089.1:c.581G>A, XM_047433090.1:c.368G>A, XM_017022594.1:c.338G>A, XM_011522059.1:c.320G>A, XM_011522062.1:c.284G>A, XM_011522063.1:c.284G>A, XM_047433096.1:c.368G>A, XM_047433092.1:c.254G>A, XM_047433093.1:c.581G>A, XM_047433094.1:c.368G>A, XM_047433097.1:c.-53G>A, XM_047433100.1:c.776G>A, XP_011520354.1:p.Gly222Glu, XP_011520358.3:p.Gly222Glu, NP_079113.2:p.Gly194Glu, XP_011520360.1:p.Gly113Glu, XP_011520348.1:p.Gly259Glu, XP_011520351.1:p.Gly222Glu, XP_011520349.1:p.Gly222Glu, XP_016878076.2:p.Gly194Glu, XP_024305833.1:p.Gly231Glu, XP_016878080.1:p.Gly222Glu, XP_024305834.1:p.Gly259Glu, XP_011520350.1:p.Gly222Glu, XP_024305835.1:p.Gly259Glu, XP_011520355.1:p.Gly222Glu, XP_024305836.1:p.Gly259Glu, XP_024305838.1:p.Gly259Glu, XP_047289038.1:p.Gly222Glu, XP_047289040.1:p.Gly188Glu, XP_047289041.1:p.Gly231Glu, XP_047289042.1:p.Gly231Glu, XP_047289039.1:p.Gly194Glu, XP_047289043.1:p.Gly160Glu, XP_047289055.1:p.Gly194Glu, XP_011520362.1:p.Gly95Glu, XP_047289044.1:p.Gly151Glu, XP_011520363.1:p.Gly95Glu, XP_047289047.1:p.Gly231Glu, XP_047289045.1:p.Gly194Glu, XP_047289046.1:p.Gly123Glu, XP_016878083.1:p.Gly113Glu, XP_011520361.1:p.Gly107Glu, XP_011520364.1:p.Gly95Glu, XP_011520365.1:p.Gly95Glu, XP_047289052.1:p.Gly123Glu, XP_047289048.1:p.Gly85Glu, XP_047289049.1:p.Gly194Glu, XP_047289050.1:p.Gly123Glu, XP_047289056.1:p.Gly259Glu

              7.

              rs1488055673 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:49876484 (GRCh38)
                15:50168681 (GRCh37)
                Canonical SPDI:
                NC_000015.10:49876483:A:G
                Gene:
                ATP8B4 (Varview), LOC102724587 (Varview)
                Functional Consequence:
                upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.49876484A>G, NC_000015.9:g.50168681A>G, XM_011522052.4:c.2905T>C, XM_011522052.3:c.2905T>C, XM_011522052.2:c.2905T>C, XM_011522052.1:c.2905T>C, XM_011522056.4:c.2905T>C, XM_011522056.3:c.2905T>C, XM_011522056.2:c.3211T>C, XM_011522056.1:c.2905T>C, NM_024837.4:c.2821T>C, NM_024837.3:c.2821T>C, XM_011522058.4:c.2578T>C, XM_011522058.3:c.2578T>C, XM_011522058.2:c.2578T>C, XM_011522058.1:c.2578T>C, XM_011522046.3:c.3016T>C, XM_011522046.2:c.3016T>C, XM_011522046.1:c.3016T>C, XM_011522049.3:c.2905T>C, XM_011522049.2:c.2905T>C, XM_011522049.1:c.2905T>C, XM_011522047.3:c.2905T>C, XM_011522047.2:c.2905T>C, XM_011522047.1:c.2905T>C, XM_017022587.3:c.2821T>C, XM_017022587.2:c.2821T>C, XM_017022587.1:c.3127T>C, XM_024450065.2:c.2932T>C, XM_024450065.1:c.2932T>C, XM_017022591.2:c.2905T>C, XM_017022591.1:c.2905T>C, NR_073598.2:n.3133T>C, NR_073598.1:n.3070T>C, XM_024450066.2:c.2857T>C, XM_024450066.1:c.2857T>C, XM_011522048.2:c.2905T>C, XM_011522048.1:c.2905T>C, XM_024450067.2:c.2827T>C, XM_024450067.1:c.2827T>C, XM_011522053.2:c.2905T>C, XM_011522053.1:c.2905T>C, NR_073596.2:n.2873T>C, NR_073596.1:n.2862T>C, NR_073597.2:n.2826T>C, NR_073597.1:n.2815T>C, XM_011522069.2:c.2056T>C, XM_011522069.1:c.2056T>C, XM_011522070.2:c.1462T>C, XM_011522070.1:c.1462T>C, XM_024450068.2:c.3016T>C, XM_024450068.1:c.3016T>C, XM_047433098.1:c.2188T>C, XM_047433082.1:c.2905T>C, XM_047433084.1:c.2803T>C, XM_047433085.1:c.2773T>C, XM_047433086.1:c.2743T>C, XM_047433083.1:c.2821T>C, XM_047433087.1:c.2719T>C, XM_011522060.1:c.2524T>C, XM_047433088.1:c.2692T>C, XM_011522061.1:c.2524T>C, XM_047433091.1:c.2584T>C, XM_047433089.1:c.2632T>C, XM_047433090.1:c.2608T>C, XM_017022594.1:c.2578T>C, XM_011522059.1:c.2560T>C, XM_011522062.1:c.2524T>C, XM_011522063.1:c.2524T>C, XM_047433096.1:c.2419T>C, XM_047433092.1:c.2494T>C, XM_047433093.1:c.2473T>C, XM_047433094.1:c.2419T>C, XM_047433097.1:c.2188T>C, XM_024450069.1:c.2269T>C, XP_011520354.1:p.Tyr969His, XP_011520358.3:p.Tyr969His, NP_079113.2:p.Tyr941His, XP_011520360.1:p.Tyr860His, XP_011520348.1:p.Tyr1006His, XP_011520351.1:p.Tyr969His, XP_011520349.1:p.Tyr969His, XP_016878076.2:p.Tyr941His, XP_024305833.1:p.Tyr978His, XP_016878080.1:p.Tyr969His, XP_024305834.1:p.Tyr953His, XP_011520350.1:p.Tyr969His, XP_024305835.1:p.Tyr943His, XP_011520355.1:p.Tyr969His, XP_011520371.1:p.Tyr686His, XP_011520372.1:p.Tyr488His, XP_024305836.1:p.Tyr1006His, XP_047289054.1:p.Tyr730His, XP_047289038.1:p.Tyr969His, XP_047289040.1:p.Tyr935His, XP_047289041.1:p.Tyr925His, XP_047289042.1:p.Tyr915His, XP_047289039.1:p.Tyr941His, XP_047289043.1:p.Tyr907His, XP_011520362.1:p.Tyr842His, XP_047289044.1:p.Tyr898His, XP_011520363.1:p.Tyr842His, XP_047289047.1:p.Tyr862His, XP_047289045.1:p.Tyr878His, XP_047289046.1:p.Tyr870His, XP_016878083.1:p.Tyr860His, XP_011520361.1:p.Tyr854His, XP_011520364.1:p.Tyr842His, XP_011520365.1:p.Tyr842His, XP_047289052.1:p.Tyr807His, XP_047289048.1:p.Tyr832His, XP_047289049.1:p.Tyr825His, XP_047289050.1:p.Tyr807His, XP_047289053.1:p.Tyr730His, XP_024305837.1:p.Tyr757His

                8.

                rs1487570997 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  15:50047446 (GRCh38)
                  15:50339643 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:50047445:A:C
                  Gene:
                  ATP8B4 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.50047446A>C, NC_000015.9:g.50339643A>C, XM_011522052.4:c.106T>G, XM_011522052.3:c.106T>G, XM_011522052.2:c.106T>G, XM_011522052.1:c.106T>G, XM_011522056.4:c.106T>G, XM_011522056.3:c.106T>G, XM_011522056.2:c.412T>G, XM_011522056.1:c.106T>G, NM_024837.4:c.106T>G, NM_024837.3:c.106T>G, XM_011522046.3:c.217T>G, XM_011522046.2:c.217T>G, XM_011522046.1:c.217T>G, XM_011522049.3:c.106T>G, XM_011522049.2:c.106T>G, XM_011522049.1:c.106T>G, XM_011522047.3:c.106T>G, XM_011522047.2:c.106T>G, XM_011522047.1:c.106T>G, XM_017022587.3:c.106T>G, XM_017022587.2:c.106T>G, XM_017022587.1:c.412T>G, XM_024450065.2:c.217T>G, XM_024450065.1:c.217T>G, XM_017022591.2:c.106T>G, XM_017022591.1:c.106T>G, NR_073598.2:n.330T>G, NR_073598.1:n.267T>G, XM_024450066.2:c.217T>G, XM_024450066.1:c.217T>G, XM_011522048.2:c.106T>G, XM_011522048.1:c.106T>G, XM_024450067.2:c.217T>G, XM_024450067.1:c.217T>G, XM_011522053.2:c.106T>G, XM_011522053.1:c.106T>G, NR_073596.2:n.259T>G, NR_073596.1:n.248T>G, NR_073597.2:n.259T>G, NR_073597.1:n.248T>G, XM_024450068.2:c.217T>G, XM_024450068.1:c.217T>G, XM_024450070.2:c.217T>G, XM_024450070.1:c.217T>G, XR_002957687.2:n.422T>G, XR_002957687.1:n.562T>G, XM_047433082.1:c.106T>G, XM_047433085.1:c.217T>G, XM_047433086.1:c.217T>G, XM_047433083.1:c.106T>G, XM_047433099.1:c.106T>G, XM_047433091.1:c.217T>G, XM_047433089.1:c.106T>G, XM_047433093.1:c.106T>G, XM_047433100.1:c.217T>G, XP_011520354.1:p.Ser36Ala, XP_011520358.3:p.Ser36Ala, NP_079113.2:p.Ser36Ala, XP_011520348.1:p.Ser73Ala, XP_011520351.1:p.Ser36Ala, XP_011520349.1:p.Ser36Ala, XP_016878076.2:p.Ser36Ala, XP_024305833.1:p.Ser73Ala, XP_016878080.1:p.Ser36Ala, XP_024305834.1:p.Ser73Ala, XP_011520350.1:p.Ser36Ala, XP_024305835.1:p.Ser73Ala, XP_011520355.1:p.Ser36Ala, XP_024305836.1:p.Ser73Ala, XP_024305838.1:p.Ser73Ala, XP_047289038.1:p.Ser36Ala, XP_047289041.1:p.Ser73Ala, XP_047289042.1:p.Ser73Ala, XP_047289039.1:p.Ser36Ala, XP_047289055.1:p.Ser36Ala, XP_047289047.1:p.Ser73Ala, XP_047289045.1:p.Ser36Ala, XP_047289049.1:p.Ser36Ala, XP_047289056.1:p.Ser73Ala

                  9.

                  rs1486715515 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:49931154 (GRCh38)
                    15:50223351 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:49931153:T:C
                    Gene:
                    ATP8B4 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.49931154T>C, NC_000015.9:g.50223351T>C, XM_011522052.4:c.1691A>G, XM_011522052.3:c.1691A>G, XM_011522052.2:c.1691A>G, XM_011522052.1:c.1691A>G, XM_011522056.4:c.1691A>G, XM_011522056.3:c.1691A>G, XM_011522056.2:c.1997A>G, XM_011522056.1:c.1691A>G, NM_024837.4:c.1607A>G, NM_024837.3:c.1607A>G, XM_011522058.4:c.1364A>G, XM_011522058.3:c.1364A>G, XM_011522058.2:c.1364A>G, XM_011522058.1:c.1364A>G, XM_011522046.3:c.1802A>G, XM_011522046.2:c.1802A>G, XM_011522046.1:c.1802A>G, XM_011522049.3:c.1691A>G, XM_011522049.2:c.1691A>G, XM_011522049.1:c.1691A>G, XM_011522047.3:c.1691A>G, XM_011522047.2:c.1691A>G, XM_011522047.1:c.1691A>G, XM_017022587.3:c.1607A>G, XM_017022587.2:c.1607A>G, XM_017022587.1:c.1913A>G, XM_024450065.2:c.1718A>G, XM_024450065.1:c.1718A>G, XM_017022591.2:c.1691A>G, XM_017022591.1:c.1691A>G, NR_073598.2:n.1919A>G, NR_073598.1:n.1856A>G, XM_024450066.2:c.1643A>G, XM_024450066.1:c.1643A>G, XM_011522048.2:c.1691A>G, XM_011522048.1:c.1691A>G, XM_011522053.2:c.1691A>G, XM_011522053.1:c.1691A>G, NR_073597.2:n.1760A>G, NR_073597.1:n.1749A>G, XM_011522069.2:c.842A>G, XM_011522069.1:c.842A>G, XM_011522070.2:c.248A>G, XM_011522070.1:c.248A>G, XM_024450068.2:c.1802A>G, XM_024450068.1:c.1802A>G, XM_024450070.2:c.1802A>G, XM_024450070.1:c.1802A>G, XR_002957687.2:n.2007A>G, XR_002957687.1:n.2147A>G, XM_047433098.1:c.974A>G, XM_047433082.1:c.1691A>G, XM_047433084.1:c.1589A>G, XM_047433085.1:c.1559A>G, XM_047433083.1:c.1607A>G, XM_047433087.1:c.1505A>G, XM_047433099.1:c.1607A>G, XM_011522060.1:c.1310A>G, XM_047433088.1:c.1478A>G, XM_011522061.1:c.1310A>G, XM_047433090.1:c.1394A>G, XM_017022594.1:c.1364A>G, XM_011522059.1:c.1346A>G, XM_011522062.1:c.1310A>G, XM_011522063.1:c.1310A>G, XM_047433092.1:c.1280A>G, XM_047433097.1:c.974A>G, XM_024450069.1:c.1055A>G, XM_047433100.1:c.1802A>G, XP_011520354.1:p.Asp564Gly, XP_011520358.3:p.Asp564Gly, NP_079113.2:p.Asp536Gly, XP_011520360.1:p.Asp455Gly, XP_011520348.1:p.Asp601Gly, XP_011520351.1:p.Asp564Gly, XP_011520349.1:p.Asp564Gly, XP_016878076.2:p.Asp536Gly, XP_024305833.1:p.Asp573Gly, XP_016878080.1:p.Asp564Gly, XP_024305834.1:p.Asp548Gly, XP_011520350.1:p.Asp564Gly, XP_011520355.1:p.Asp564Gly, XP_011520371.1:p.Asp281Gly, XP_011520372.1:p.Asp83Gly, XP_024305836.1:p.Asp601Gly, XP_024305838.1:p.Asp601Gly, XP_047289054.1:p.Asp325Gly, XP_047289038.1:p.Asp564Gly, XP_047289040.1:p.Asp530Gly, XP_047289041.1:p.Asp520Gly, XP_047289039.1:p.Asp536Gly, XP_047289043.1:p.Asp502Gly, XP_047289055.1:p.Asp536Gly, XP_011520362.1:p.Asp437Gly, XP_047289044.1:p.Asp493Gly, XP_011520363.1:p.Asp437Gly, XP_047289046.1:p.Asp465Gly, XP_016878083.1:p.Asp455Gly, XP_011520361.1:p.Asp449Gly, XP_011520364.1:p.Asp437Gly, XP_011520365.1:p.Asp437Gly, XP_047289048.1:p.Asp427Gly, XP_047289053.1:p.Asp325Gly, XP_024305837.1:p.Asp352Gly, XP_047289056.1:p.Asp601Gly

                    10.

                    rs1485834828 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      15:49920305 (GRCh38)
                      15:50212502 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:49920304:T:A,NC_000015.10:49920304:T:C
                      Gene:
                      ATP8B4 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      NC_000015.10:g.49920305T>A, NC_000015.10:g.49920305T>C, NC_000015.9:g.50212502T>A, NC_000015.9:g.50212502T>C, XM_011522052.4:c.1948A>T, XM_011522052.4:c.1948A>G, XM_011522052.3:c.1948A>T, XM_011522052.3:c.1948A>G, XM_011522052.2:c.1948A>T, XM_011522052.2:c.1948A>G, XM_011522052.1:c.1948A>T, XM_011522052.1:c.1948A>G, XM_011522056.4:c.1948A>T, XM_011522056.4:c.1948A>G, XM_011522056.3:c.1948A>T, XM_011522056.3:c.1948A>G, XM_011522056.2:c.2254A>T, XM_011522056.2:c.2254A>G, XM_011522056.1:c.1948A>T, XM_011522056.1:c.1948A>G, NM_024837.4:c.1864A>T, NM_024837.4:c.1864A>G, NM_024837.3:c.1864A>T, NM_024837.3:c.1864A>G, XM_011522058.4:c.1621A>T, XM_011522058.4:c.1621A>G, XM_011522058.3:c.1621A>T, XM_011522058.3:c.1621A>G, XM_011522058.2:c.1621A>T, XM_011522058.2:c.1621A>G, XM_011522058.1:c.1621A>T, XM_011522058.1:c.1621A>G, XM_011522046.3:c.2059A>T, XM_011522046.3:c.2059A>G, XM_011522046.2:c.2059A>T, XM_011522046.2:c.2059A>G, XM_011522046.1:c.2059A>T, XM_011522046.1:c.2059A>G, XM_011522049.3:c.1948A>T, XM_011522049.3:c.1948A>G, XM_011522049.2:c.1948A>T, XM_011522049.2:c.1948A>G, XM_011522049.1:c.1948A>T, XM_011522049.1:c.1948A>G, XM_011522047.3:c.1948A>T, XM_011522047.3:c.1948A>G, XM_011522047.2:c.1948A>T, XM_011522047.2:c.1948A>G, XM_011522047.1:c.1948A>T, XM_011522047.1:c.1948A>G, XM_017022587.3:c.1864A>T, XM_017022587.3:c.1864A>G, XM_017022587.2:c.1864A>T, XM_017022587.2:c.1864A>G, XM_017022587.1:c.2170A>T, XM_017022587.1:c.2170A>G, XM_024450065.2:c.1975A>T, XM_024450065.2:c.1975A>G, XM_024450065.1:c.1975A>T, XM_024450065.1:c.1975A>G, XM_017022591.2:c.1948A>T, XM_017022591.2:c.1948A>G, XM_017022591.1:c.1948A>T, XM_017022591.1:c.1948A>G, NR_073598.2:n.2176A>T, NR_073598.2:n.2176A>G, NR_073598.1:n.2113A>T, NR_073598.1:n.2113A>G, XM_024450066.2:c.1900A>T, XM_024450066.2:c.1900A>G, XM_024450066.1:c.1900A>T, XM_024450066.1:c.1900A>G, XM_011522048.2:c.1948A>T, XM_011522048.2:c.1948A>G, XM_011522048.1:c.1948A>T, XM_011522048.1:c.1948A>G, XM_024450067.2:c.1870A>T, XM_024450067.2:c.1870A>G, XM_024450067.1:c.1870A>T, XM_024450067.1:c.1870A>G, XM_011522053.2:c.1948A>T, XM_011522053.2:c.1948A>G, XM_011522053.1:c.1948A>T, XM_011522053.1:c.1948A>G, NR_073596.2:n.1916A>T, NR_073596.2:n.1916A>G, NR_073596.1:n.1905A>T, NR_073596.1:n.1905A>G, NR_073597.2:n.2017A>T, NR_073597.2:n.2017A>G, NR_073597.1:n.2006A>T, NR_073597.1:n.2006A>G, XM_011522069.2:c.1099A>T, XM_011522069.2:c.1099A>G, XM_011522069.1:c.1099A>T, XM_011522069.1:c.1099A>G, XM_011522070.2:c.505A>T, XM_011522070.2:c.505A>G, XM_011522070.1:c.505A>T, XM_011522070.1:c.505A>G, XM_024450068.2:c.2059A>T, XM_024450068.2:c.2059A>G, XM_024450068.1:c.2059A>T, XM_024450068.1:c.2059A>G, XM_024450070.2:c.2059A>T, XM_024450070.2:c.2059A>G, XM_024450070.1:c.2059A>T, XM_024450070.1:c.2059A>G, XM_047433098.1:c.1231A>T, XM_047433098.1:c.1231A>G, XM_047433082.1:c.1948A>T, XM_047433082.1:c.1948A>G, XM_047433084.1:c.1846A>T, XM_047433084.1:c.1846A>G, XM_047433085.1:c.1816A>T, XM_047433085.1:c.1816A>G, XM_047433086.1:c.1786A>T, XM_047433086.1:c.1786A>G, XM_047433083.1:c.1864A>T, XM_047433083.1:c.1864A>G, XM_047433087.1:c.1762A>T, XM_047433087.1:c.1762A>G, XM_047433099.1:c.1864A>T, XM_047433099.1:c.1864A>G, XM_011522060.1:c.1567A>T, XM_011522060.1:c.1567A>G, XM_047433088.1:c.1735A>T, XM_047433088.1:c.1735A>G, XM_011522061.1:c.1567A>T, XM_011522061.1:c.1567A>G, XM_047433091.1:c.1627A>T, XM_047433091.1:c.1627A>G, XM_047433089.1:c.1675A>T, XM_047433089.1:c.1675A>G, XM_047433090.1:c.1651A>T, XM_047433090.1:c.1651A>G, XM_017022594.1:c.1621A>T, XM_017022594.1:c.1621A>G, XM_011522059.1:c.1603A>T, XM_011522059.1:c.1603A>G, XM_011522062.1:c.1567A>T, XM_011522062.1:c.1567A>G, XM_011522063.1:c.1567A>T, XM_011522063.1:c.1567A>G, XM_047433096.1:c.1462A>T, XM_047433096.1:c.1462A>G, XM_047433092.1:c.1537A>T, XM_047433092.1:c.1537A>G, XM_047433093.1:c.1516A>T, XM_047433093.1:c.1516A>G, XM_047433094.1:c.1462A>T, XM_047433094.1:c.1462A>G, XM_047433097.1:c.1231A>T, XM_047433097.1:c.1231A>G, XM_024450069.1:c.1312A>T, XM_024450069.1:c.1312A>G, XM_047433100.1:c.2059A>T, XM_047433100.1:c.2059A>G, XP_011520354.1:p.Thr650Ser, XP_011520354.1:p.Thr650Ala, XP_011520358.3:p.Thr650Ser, XP_011520358.3:p.Thr650Ala, NP_079113.2:p.Thr622Ser, NP_079113.2:p.Thr622Ala, XP_011520360.1:p.Thr541Ser, XP_011520360.1:p.Thr541Ala, XP_011520348.1:p.Thr687Ser, XP_011520348.1:p.Thr687Ala, XP_011520351.1:p.Thr650Ser, XP_011520351.1:p.Thr650Ala, XP_011520349.1:p.Thr650Ser, XP_011520349.1:p.Thr650Ala, XP_016878076.2:p.Thr622Ser, XP_016878076.2:p.Thr622Ala, XP_024305833.1:p.Thr659Ser, XP_024305833.1:p.Thr659Ala, XP_016878080.1:p.Thr650Ser, XP_016878080.1:p.Thr650Ala, XP_024305834.1:p.Thr634Ser, XP_024305834.1:p.Thr634Ala, XP_011520350.1:p.Thr650Ser, XP_011520350.1:p.Thr650Ala, XP_024305835.1:p.Thr624Ser, XP_024305835.1:p.Thr624Ala, XP_011520355.1:p.Thr650Ser, XP_011520355.1:p.Thr650Ala, XP_011520371.1:p.Thr367Ser, XP_011520371.1:p.Thr367Ala, XP_011520372.1:p.Thr169Ser, XP_011520372.1:p.Thr169Ala, XP_024305836.1:p.Thr687Ser, XP_024305836.1:p.Thr687Ala, XP_024305838.1:p.Thr687Ser, XP_024305838.1:p.Thr687Ala, XP_047289054.1:p.Thr411Ser, XP_047289054.1:p.Thr411Ala, XP_047289038.1:p.Thr650Ser, XP_047289038.1:p.Thr650Ala, XP_047289040.1:p.Thr616Ser, XP_047289040.1:p.Thr616Ala, XP_047289041.1:p.Thr606Ser, XP_047289041.1:p.Thr606Ala, XP_047289042.1:p.Thr596Ser, XP_047289042.1:p.Thr596Ala, XP_047289039.1:p.Thr622Ser, XP_047289039.1:p.Thr622Ala, XP_047289043.1:p.Thr588Ser, XP_047289043.1:p.Thr588Ala, XP_047289055.1:p.Thr622Ser, XP_047289055.1:p.Thr622Ala, XP_011520362.1:p.Thr523Ser, XP_011520362.1:p.Thr523Ala, XP_047289044.1:p.Thr579Ser, XP_047289044.1:p.Thr579Ala, XP_011520363.1:p.Thr523Ser, XP_011520363.1:p.Thr523Ala, XP_047289047.1:p.Thr543Ser, XP_047289047.1:p.Thr543Ala, XP_047289045.1:p.Thr559Ser, XP_047289045.1:p.Thr559Ala, XP_047289046.1:p.Thr551Ser, XP_047289046.1:p.Thr551Ala, XP_016878083.1:p.Thr541Ser, XP_016878083.1:p.Thr541Ala, XP_011520361.1:p.Thr535Ser, XP_011520361.1:p.Thr535Ala, XP_011520364.1:p.Thr523Ser, XP_011520364.1:p.Thr523Ala, XP_011520365.1:p.Thr523Ser, XP_011520365.1:p.Thr523Ala, XP_047289052.1:p.Thr488Ser, XP_047289052.1:p.Thr488Ala, XP_047289048.1:p.Thr513Ser, XP_047289048.1:p.Thr513Ala, XP_047289049.1:p.Thr506Ser, XP_047289049.1:p.Thr506Ala, XP_047289050.1:p.Thr488Ser, XP_047289050.1:p.Thr488Ala, XP_047289053.1:p.Thr411Ser, XP_047289053.1:p.Thr411Ala, XP_024305837.1:p.Thr438Ser, XP_024305837.1:p.Thr438Ala, XP_047289056.1:p.Thr687Ser, XP_047289056.1:p.Thr687Ala

                      11.

                      rs1484729981 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:49860363 (GRCh38)
                        15:50152560 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:49860362:C:T
                        Gene:
                        ATP8B4 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000015.10:g.49860363C>T, NC_000015.9:g.50152560C>T, XM_011522052.4:c.3494G>A, XM_011522052.3:c.3494G>A, XM_011522052.2:c.3494G>A, XM_011522052.1:c.3494G>A, XM_011522056.4:c.3494G>A, XM_011522056.3:c.3494G>A, XM_011522056.2:c.3800G>A, XM_011522056.1:c.3494G>A, NM_024837.4:c.3410G>A, NM_024837.3:c.3410G>A, XM_011522058.4:c.3167G>A, XM_011522058.3:c.3167G>A, XM_011522058.2:c.3167G>A, XM_011522058.1:c.3167G>A, XM_011522046.3:c.3605G>A, XM_011522046.2:c.3605G>A, XM_011522046.1:c.3605G>A, XM_011522049.3:c.3494G>A, XM_011522049.2:c.3494G>A, XM_011522049.1:c.3494G>A, XM_011522047.3:c.3494G>A, XM_011522047.2:c.3494G>A, XM_011522047.1:c.3494G>A, XM_017022587.3:c.3410G>A, XM_017022587.2:c.3410G>A, XM_017022587.1:c.3716G>A, XM_024450065.2:c.3521G>A, XM_024450065.1:c.3521G>A, XM_017022591.2:c.3494G>A, XM_017022591.1:c.3494G>A, NR_073598.2:n.3722G>A, NR_073598.1:n.3659G>A, XM_024450066.2:c.3446G>A, XM_024450066.1:c.3446G>A, XM_011522048.2:c.3494G>A, XM_011522048.1:c.3494G>A, XM_024450067.2:c.3416G>A, XM_024450067.1:c.3416G>A, XM_011522053.2:c.3494G>A, XM_011522053.1:c.3494G>A, NR_073596.2:n.3462G>A, NR_073596.1:n.3451G>A, NR_073597.2:n.3415G>A, NR_073597.1:n.3404G>A, XM_011522069.2:c.2645G>A, XM_011522069.1:c.2645G>A, XM_011522070.2:c.2051G>A, XM_011522070.1:c.2051G>A, XM_047433098.1:c.2777G>A, XM_047433082.1:c.3494G>A, XM_047433084.1:c.3392G>A, XM_047433085.1:c.3362G>A, XM_047433086.1:c.3332G>A, XM_047433083.1:c.3410G>A, XM_047433087.1:c.3308G>A, XM_011522060.1:c.3113G>A, XM_047433088.1:c.3281G>A, XM_011522061.1:c.3113G>A, XM_047433091.1:c.3173G>A, XM_047433089.1:c.3221G>A, XM_047433090.1:c.3197G>A, XM_017022594.1:c.3167G>A, XM_011522059.1:c.3149G>A, XM_011522062.1:c.3113G>A, XM_011522063.1:c.3113G>A, XM_047433096.1:c.3008G>A, XM_047433092.1:c.3083G>A, XM_047433093.1:c.3062G>A, XM_047433094.1:c.3008G>A, XM_047433097.1:c.2777G>A, XM_024450069.1:c.2858G>A, XP_011520354.1:p.Gly1165Asp, XP_011520358.3:p.Gly1165Asp, NP_079113.2:p.Gly1137Asp, XP_011520360.1:p.Gly1056Asp, XP_011520348.1:p.Gly1202Asp, XP_011520351.1:p.Gly1165Asp, XP_011520349.1:p.Gly1165Asp, XP_016878076.2:p.Gly1137Asp, XP_024305833.1:p.Gly1174Asp, XP_016878080.1:p.Gly1165Asp, XP_024305834.1:p.Gly1149Asp, XP_011520350.1:p.Gly1165Asp, XP_024305835.1:p.Gly1139Asp, XP_011520355.1:p.Gly1165Asp, XP_011520371.1:p.Gly882Asp, XP_011520372.1:p.Gly684Asp, XP_047289054.1:p.Gly926Asp, XP_047289038.1:p.Gly1165Asp, XP_047289040.1:p.Gly1131Asp, XP_047289041.1:p.Gly1121Asp, XP_047289042.1:p.Gly1111Asp, XP_047289039.1:p.Gly1137Asp, XP_047289043.1:p.Gly1103Asp, XP_011520362.1:p.Gly1038Asp, XP_047289044.1:p.Gly1094Asp, XP_011520363.1:p.Gly1038Asp, XP_047289047.1:p.Gly1058Asp, XP_047289045.1:p.Gly1074Asp, XP_047289046.1:p.Gly1066Asp, XP_016878083.1:p.Gly1056Asp, XP_011520361.1:p.Gly1050Asp, XP_011520364.1:p.Gly1038Asp, XP_011520365.1:p.Gly1038Asp, XP_047289052.1:p.Gly1003Asp, XP_047289048.1:p.Gly1028Asp, XP_047289049.1:p.Gly1021Asp, XP_047289050.1:p.Gly1003Asp, XP_047289053.1:p.Gly926Asp, XP_024305837.1:p.Gly953Asp

                        12.

                        rs1484536893 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          15:49972688 (GRCh38)
                          15:50264885 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:49972687:G:A,NC_000015.10:49972687:G:C
                          Gene:
                          ATP8B4 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000015.10:g.49972688G>A, NC_000015.10:g.49972688G>C, NC_000015.9:g.50264885G>A, NC_000015.9:g.50264885G>C, XM_011522052.4:c.1221C>T, XM_011522052.4:c.1221C>G, XM_011522052.3:c.1221C>T, XM_011522052.3:c.1221C>G, XM_011522052.2:c.1221C>T, XM_011522052.2:c.1221C>G, XM_011522052.1:c.1221C>T, XM_011522052.1:c.1221C>G, XM_011522056.4:c.1221C>T, XM_011522056.4:c.1221C>G, XM_011522056.3:c.1221C>T, XM_011522056.3:c.1221C>G, XM_011522056.2:c.1527C>T, XM_011522056.2:c.1527C>G, XM_011522056.1:c.1221C>T, XM_011522056.1:c.1221C>G, NM_024837.4:c.1137C>T, NM_024837.4:c.1137C>G, NM_024837.3:c.1137C>T, NM_024837.3:c.1137C>G, XM_011522058.4:c.894C>T, XM_011522058.4:c.894C>G, XM_011522058.3:c.894C>T, XM_011522058.3:c.894C>G, XM_011522058.2:c.894C>T, XM_011522058.2:c.894C>G, XM_011522058.1:c.894C>T, XM_011522058.1:c.894C>G, XM_011522046.3:c.1332C>T, XM_011522046.3:c.1332C>G, XM_011522046.2:c.1332C>T, XM_011522046.2:c.1332C>G, XM_011522046.1:c.1332C>T, XM_011522046.1:c.1332C>G, XM_011522049.3:c.1221C>T, XM_011522049.3:c.1221C>G, XM_011522049.2:c.1221C>T, XM_011522049.2:c.1221C>G, XM_011522049.1:c.1221C>T, XM_011522049.1:c.1221C>G, XM_011522047.3:c.1221C>T, XM_011522047.3:c.1221C>G, XM_011522047.2:c.1221C>T, XM_011522047.2:c.1221C>G, XM_011522047.1:c.1221C>T, XM_011522047.1:c.1221C>G, XM_017022587.3:c.1137C>T, XM_017022587.3:c.1137C>G, XM_017022587.2:c.1137C>T, XM_017022587.2:c.1137C>G, XM_017022587.1:c.1443C>T, XM_017022587.1:c.1443C>G, XM_024450065.2:c.1248C>T, XM_024450065.2:c.1248C>G, XM_024450065.1:c.1248C>T, XM_024450065.1:c.1248C>G, XM_017022591.2:c.1221C>T, XM_017022591.2:c.1221C>G, XM_017022591.1:c.1221C>T, XM_017022591.1:c.1221C>G, NR_073598.2:n.1449C>T, NR_073598.2:n.1449C>G, NR_073598.1:n.1386C>T, NR_073598.1:n.1386C>G, XM_024450066.2:c.1173C>T, XM_024450066.2:c.1173C>G, XM_024450066.1:c.1173C>T, XM_024450066.1:c.1173C>G, XM_011522048.2:c.1221C>T, XM_011522048.2:c.1221C>G, XM_011522048.1:c.1221C>T, XM_011522048.1:c.1221C>G, XM_024450067.2:c.1332C>T, XM_024450067.2:c.1332C>G, XM_024450067.1:c.1332C>T, XM_024450067.1:c.1332C>G, XM_011522053.2:c.1221C>T, XM_011522053.2:c.1221C>G, XM_011522053.1:c.1221C>T, XM_011522053.1:c.1221C>G, NR_073596.2:n.1378C>T, NR_073596.2:n.1378C>G, NR_073596.1:n.1367C>T, NR_073596.1:n.1367C>G, NR_073597.2:n.1290C>T, NR_073597.2:n.1290C>G, NR_073597.1:n.1279C>T, NR_073597.1:n.1279C>G, XM_011522069.2:c.372C>T, XM_011522069.2:c.372C>G, XM_011522069.1:c.372C>T, XM_011522069.1:c.372C>G, XM_024450068.2:c.1332C>T, XM_024450068.2:c.1332C>G, XM_024450068.1:c.1332C>T, XM_024450068.1:c.1332C>G, XM_024450070.2:c.1332C>T, XM_024450070.2:c.1332C>G, XM_024450070.1:c.1332C>T, XM_024450070.1:c.1332C>G, XR_002957687.2:n.1537C>T, XR_002957687.2:n.1537C>G, XR_002957687.1:n.1677C>T, XR_002957687.1:n.1677C>G, XM_047433098.1:c.504C>T, XM_047433098.1:c.504C>G, XM_047433082.1:c.1221C>T, XM_047433082.1:c.1221C>G, XM_047433084.1:c.1119C>T, XM_047433084.1:c.1119C>G, XM_047433085.1:c.1089C>T, XM_047433085.1:c.1089C>G, XM_047433086.1:c.1248C>T, XM_047433086.1:c.1248C>G, XM_047433083.1:c.1137C>T, XM_047433083.1:c.1137C>G, XM_047433087.1:c.1035C>T, XM_047433087.1:c.1035C>G, XM_047433099.1:c.1137C>T, XM_047433099.1:c.1137C>G, XM_011522060.1:c.840C>T, XM_011522060.1:c.840C>G, XM_047433088.1:c.1008C>T, XM_047433088.1:c.1008C>G, XM_011522061.1:c.840C>T, XM_011522061.1:c.840C>G, XM_047433091.1:c.1089C>T, XM_047433091.1:c.1089C>G, XM_047433089.1:c.1137C>T, XM_047433089.1:c.1137C>G, XM_047433090.1:c.924C>T, XM_047433090.1:c.924C>G, XM_017022594.1:c.894C>T, XM_017022594.1:c.894C>G, XM_011522059.1:c.876C>T, XM_011522059.1:c.876C>G, XM_011522062.1:c.840C>T, XM_011522062.1:c.840C>G, XM_011522063.1:c.840C>T, XM_011522063.1:c.840C>G, XM_047433096.1:c.924C>T, XM_047433096.1:c.924C>G, XM_047433092.1:c.810C>T, XM_047433092.1:c.810C>G, XM_047433093.1:c.978C>T, XM_047433093.1:c.978C>G, XM_047433094.1:c.924C>T, XM_047433094.1:c.924C>G, XM_047433097.1:c.504C>T, XM_047433097.1:c.504C>G, XM_024450069.1:c.585C>T, XM_024450069.1:c.585C>G, XM_047433100.1:c.1332C>T, XM_047433100.1:c.1332C>G

                          13.

                          rs1484330086 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            15:49901229 (GRCh38)
                            15:50193426 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:49901228:G:A,NC_000015.10:49901228:G:C
                            Gene:
                            ATP8B4 (Varview)
                            Functional Consequence:
                            stop_gained,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000015.10:g.49901229G>A, NC_000015.10:g.49901229G>C, NC_000015.9:g.50193426G>A, NC_000015.9:g.50193426G>C, XM_011522052.4:c.2236C>T, XM_011522052.4:c.2236C>G, XM_011522052.3:c.2236C>T, XM_011522052.3:c.2236C>G, XM_011522052.2:c.2236C>T, XM_011522052.2:c.2236C>G, XM_011522052.1:c.2236C>T, XM_011522052.1:c.2236C>G, XM_011522056.4:c.2236C>T, XM_011522056.4:c.2236C>G, XM_011522056.3:c.2236C>T, XM_011522056.3:c.2236C>G, XM_011522056.2:c.2542C>T, XM_011522056.2:c.2542C>G, XM_011522056.1:c.2236C>T, XM_011522056.1:c.2236C>G, NM_024837.4:c.2152C>T, NM_024837.4:c.2152C>G, NM_024837.3:c.2152C>T, NM_024837.3:c.2152C>G, XM_011522058.4:c.1909C>T, XM_011522058.4:c.1909C>G, XM_011522058.3:c.1909C>T, XM_011522058.3:c.1909C>G, XM_011522058.2:c.1909C>T, XM_011522058.2:c.1909C>G, XM_011522058.1:c.1909C>T, XM_011522058.1:c.1909C>G, XM_011522046.3:c.2347C>T, XM_011522046.3:c.2347C>G, XM_011522046.2:c.2347C>T, XM_011522046.2:c.2347C>G, XM_011522046.1:c.2347C>T, XM_011522046.1:c.2347C>G, XM_011522049.3:c.2236C>T, XM_011522049.3:c.2236C>G, XM_011522049.2:c.2236C>T, XM_011522049.2:c.2236C>G, XM_011522049.1:c.2236C>T, XM_011522049.1:c.2236C>G, XM_011522047.3:c.2236C>T, XM_011522047.3:c.2236C>G, XM_011522047.2:c.2236C>T, XM_011522047.2:c.2236C>G, XM_011522047.1:c.2236C>T, XM_011522047.1:c.2236C>G, XM_017022587.3:c.2152C>T, XM_017022587.3:c.2152C>G, XM_017022587.2:c.2152C>T, XM_017022587.2:c.2152C>G, XM_017022587.1:c.2458C>T, XM_017022587.1:c.2458C>G, XM_024450065.2:c.2263C>T, XM_024450065.2:c.2263C>G, XM_024450065.1:c.2263C>T, XM_024450065.1:c.2263C>G, XM_017022591.2:c.2236C>T, XM_017022591.2:c.2236C>G, XM_017022591.1:c.2236C>T, XM_017022591.1:c.2236C>G, NR_073598.2:n.2464C>T, NR_073598.2:n.2464C>G, NR_073598.1:n.2401C>T, NR_073598.1:n.2401C>G, XM_024450066.2:c.2188C>T, XM_024450066.2:c.2188C>G, XM_024450066.1:c.2188C>T, XM_024450066.1:c.2188C>G, XM_011522048.2:c.2236C>T, XM_011522048.2:c.2236C>G, XM_011522048.1:c.2236C>T, XM_011522048.1:c.2236C>G, XM_024450067.2:c.2158C>T, XM_024450067.2:c.2158C>G, XM_024450067.1:c.2158C>T, XM_024450067.1:c.2158C>G, XM_011522053.2:c.2236C>T, XM_011522053.2:c.2236C>G, XM_011522053.1:c.2236C>T, XM_011522053.1:c.2236C>G, NR_073596.2:n.2204C>T, NR_073596.2:n.2204C>G, NR_073596.1:n.2193C>T, NR_073596.1:n.2193C>G, XM_011522069.2:c.1387C>T, XM_011522069.2:c.1387C>G, XM_011522069.1:c.1387C>T, XM_011522069.1:c.1387C>G, XM_011522070.2:c.793C>T, XM_011522070.2:c.793C>G, XM_011522070.1:c.793C>T, XM_011522070.1:c.793C>G, XM_024450068.2:c.2347C>T, XM_024450068.2:c.2347C>G, XM_024450068.1:c.2347C>T, XM_024450068.1:c.2347C>G, XM_047433098.1:c.1519C>T, XM_047433098.1:c.1519C>G, XM_047433082.1:c.2236C>T, XM_047433082.1:c.2236C>G, XM_047433084.1:c.2134C>T, XM_047433084.1:c.2134C>G, XM_047433085.1:c.2104C>T, XM_047433085.1:c.2104C>G, XM_047433086.1:c.2074C>T, XM_047433086.1:c.2074C>G, XM_047433083.1:c.2152C>T, XM_047433083.1:c.2152C>G, XM_047433087.1:c.2050C>T, XM_047433087.1:c.2050C>G, XM_047433099.1:c.2152C>T, XM_047433099.1:c.2152C>G, XM_011522060.1:c.1855C>T, XM_011522060.1:c.1855C>G, XM_047433088.1:c.2023C>T, XM_047433088.1:c.2023C>G, XM_011522061.1:c.1855C>T, XM_011522061.1:c.1855C>G, XM_047433091.1:c.1915C>T, XM_047433091.1:c.1915C>G, XM_047433089.1:c.1963C>T, XM_047433089.1:c.1963C>G, XM_047433090.1:c.1939C>T, XM_047433090.1:c.1939C>G, XM_017022594.1:c.1909C>T, XM_017022594.1:c.1909C>G, XM_011522059.1:c.1891C>T, XM_011522059.1:c.1891C>G, XM_011522062.1:c.1855C>T, XM_011522062.1:c.1855C>G, XM_011522063.1:c.1855C>T, XM_011522063.1:c.1855C>G, XM_047433096.1:c.1750C>T, XM_047433096.1:c.1750C>G, XM_047433092.1:c.1825C>T, XM_047433092.1:c.1825C>G, XM_047433093.1:c.1804C>T, XM_047433093.1:c.1804C>G, XM_047433094.1:c.1750C>T, XM_047433094.1:c.1750C>G, XM_047433097.1:c.1519C>T, XM_047433097.1:c.1519C>G, XM_024450069.1:c.1600C>T, XM_024450069.1:c.1600C>G, XP_011520354.1:p.Gln746Ter, XP_011520354.1:p.Gln746Glu, XP_011520358.3:p.Gln746Ter, XP_011520358.3:p.Gln746Glu, NP_079113.2:p.Gln718Ter, NP_079113.2:p.Gln718Glu, XP_011520360.1:p.Gln637Ter, XP_011520360.1:p.Gln637Glu, XP_011520348.1:p.Gln783Ter, XP_011520348.1:p.Gln783Glu, XP_011520351.1:p.Gln746Ter, XP_011520351.1:p.Gln746Glu, XP_011520349.1:p.Gln746Ter, XP_011520349.1:p.Gln746Glu, XP_016878076.2:p.Gln718Ter, XP_016878076.2:p.Gln718Glu, XP_024305833.1:p.Gln755Ter, XP_024305833.1:p.Gln755Glu, XP_016878080.1:p.Gln746Ter, XP_016878080.1:p.Gln746Glu, XP_024305834.1:p.Gln730Ter, XP_024305834.1:p.Gln730Glu, XP_011520350.1:p.Gln746Ter, XP_011520350.1:p.Gln746Glu, XP_024305835.1:p.Gln720Ter, XP_024305835.1:p.Gln720Glu, XP_011520355.1:p.Gln746Ter, XP_011520355.1:p.Gln746Glu, XP_011520371.1:p.Gln463Ter, XP_011520371.1:p.Gln463Glu, XP_011520372.1:p.Gln265Ter, XP_011520372.1:p.Gln265Glu, XP_024305836.1:p.Gln783Ter, XP_024305836.1:p.Gln783Glu, XP_047289054.1:p.Gln507Ter, XP_047289054.1:p.Gln507Glu, XP_047289038.1:p.Gln746Ter, XP_047289038.1:p.Gln746Glu, XP_047289040.1:p.Gln712Ter, XP_047289040.1:p.Gln712Glu, XP_047289041.1:p.Gln702Ter, XP_047289041.1:p.Gln702Glu, XP_047289042.1:p.Gln692Ter, XP_047289042.1:p.Gln692Glu, XP_047289039.1:p.Gln718Ter, XP_047289039.1:p.Gln718Glu, XP_047289043.1:p.Gln684Ter, XP_047289043.1:p.Gln684Glu, XP_047289055.1:p.Gln718Ter, XP_047289055.1:p.Gln718Glu, XP_011520362.1:p.Gln619Ter, XP_011520362.1:p.Gln619Glu, XP_047289044.1:p.Gln675Ter, XP_047289044.1:p.Gln675Glu, XP_011520363.1:p.Gln619Ter, XP_011520363.1:p.Gln619Glu, XP_047289047.1:p.Gln639Ter, XP_047289047.1:p.Gln639Glu, XP_047289045.1:p.Gln655Ter, XP_047289045.1:p.Gln655Glu, XP_047289046.1:p.Gln647Ter, XP_047289046.1:p.Gln647Glu, XP_016878083.1:p.Gln637Ter, XP_016878083.1:p.Gln637Glu, XP_011520361.1:p.Gln631Ter, XP_011520361.1:p.Gln631Glu, XP_011520364.1:p.Gln619Ter, XP_011520364.1:p.Gln619Glu, XP_011520365.1:p.Gln619Ter, XP_011520365.1:p.Gln619Glu, XP_047289052.1:p.Gln584Ter, XP_047289052.1:p.Gln584Glu, XP_047289048.1:p.Gln609Ter, XP_047289048.1:p.Gln609Glu, XP_047289049.1:p.Gln602Ter, XP_047289049.1:p.Gln602Glu, XP_047289050.1:p.Gln584Ter, XP_047289050.1:p.Gln584Glu, XP_047289053.1:p.Gln507Ter, XP_047289053.1:p.Gln507Glu, XP_024305837.1:p.Gln534Ter, XP_024305837.1:p.Gln534Glu

                            14.

                            rs1483779704 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              15:49979649 (GRCh38)
                              15:50271846 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:49979648:G:C
                              Gene:
                              ATP8B4 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.49979649G>C, NC_000015.9:g.50271846G>C, XM_011522052.4:c.1086C>G, XM_011522052.3:c.1086C>G, XM_011522052.2:c.1086C>G, XM_011522052.1:c.1086C>G, XM_011522056.4:c.1086C>G, XM_011522056.3:c.1086C>G, XM_011522056.2:c.1392C>G, XM_011522056.1:c.1086C>G, NM_024837.4:c.1002C>G, NM_024837.3:c.1002C>G, XM_011522058.4:c.759C>G, XM_011522058.3:c.759C>G, XM_011522058.2:c.759C>G, XM_011522058.1:c.759C>G, XM_011522046.3:c.1197C>G, XM_011522046.2:c.1197C>G, XM_011522046.1:c.1197C>G, XM_011522049.3:c.1086C>G, XM_011522049.2:c.1086C>G, XM_011522049.1:c.1086C>G, XM_011522047.3:c.1086C>G, XM_011522047.2:c.1086C>G, XM_011522047.1:c.1086C>G, XM_017022587.3:c.1002C>G, XM_017022587.2:c.1002C>G, XM_017022587.1:c.1308C>G, XM_024450065.2:c.1113C>G, XM_024450065.1:c.1113C>G, XM_017022591.2:c.1086C>G, XM_017022591.1:c.1086C>G, NR_073598.2:n.1314C>G, NR_073598.1:n.1251C>G, XM_024450066.2:c.1038C>G, XM_024450066.1:c.1038C>G, XM_011522048.2:c.1086C>G, XM_011522048.1:c.1086C>G, XM_024450067.2:c.1197C>G, XM_024450067.1:c.1197C>G, XM_011522053.2:c.1086C>G, XM_011522053.1:c.1086C>G, NR_073596.2:n.1243C>G, NR_073596.1:n.1232C>G, NR_073597.2:n.1155C>G, NR_073597.1:n.1144C>G, XM_011522069.2:c.237C>G, XM_011522069.1:c.237C>G, XM_024450068.2:c.1197C>G, XM_024450068.1:c.1197C>G, XM_024450070.2:c.1197C>G, XM_024450070.1:c.1197C>G, XR_002957687.2:n.1402C>G, XR_002957687.1:n.1542C>G, XM_047433098.1:c.369C>G, XM_047433082.1:c.1086C>G, XM_047433084.1:c.984C>G, XM_047433085.1:c.954C>G, XM_047433086.1:c.1113C>G, XM_047433083.1:c.1002C>G, XM_047433087.1:c.900C>G, XM_047433099.1:c.1002C>G, XM_011522060.1:c.705C>G, XM_047433088.1:c.873C>G, XM_011522061.1:c.705C>G, XM_047433091.1:c.954C>G, XM_047433089.1:c.1002C>G, XM_047433090.1:c.789C>G, XM_017022594.1:c.759C>G, XM_011522059.1:c.741C>G, XM_011522062.1:c.705C>G, XM_011522063.1:c.705C>G, XM_047433096.1:c.789C>G, XM_047433092.1:c.675C>G, XM_047433093.1:c.843C>G, XM_047433094.1:c.789C>G, XM_047433097.1:c.369C>G, XM_024450069.1:c.450C>G, XM_047433100.1:c.1197C>G

                              15.

                              rs1482478822 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                15:49972764 (GRCh38)
                                15:50264961 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:49972763:C:G
                                Gene:
                                ATP8B4 (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.49972764C>G, NC_000015.9:g.50264961C>G, XM_011522052.4:c.1145G>C, XM_011522052.3:c.1145G>C, XM_011522052.2:c.1145G>C, XM_011522052.1:c.1145G>C, XM_011522056.4:c.1145G>C, XM_011522056.3:c.1145G>C, XM_011522056.2:c.1451G>C, XM_011522056.1:c.1145G>C, NM_024837.4:c.1061G>C, NM_024837.3:c.1061G>C, XM_011522058.4:c.818G>C, XM_011522058.3:c.818G>C, XM_011522058.2:c.818G>C, XM_011522058.1:c.818G>C, XM_011522046.3:c.1256G>C, XM_011522046.2:c.1256G>C, XM_011522046.1:c.1256G>C, XM_011522049.3:c.1145G>C, XM_011522049.2:c.1145G>C, XM_011522049.1:c.1145G>C, XM_011522047.3:c.1145G>C, XM_011522047.2:c.1145G>C, XM_011522047.1:c.1145G>C, XM_017022587.3:c.1061G>C, XM_017022587.2:c.1061G>C, XM_017022587.1:c.1367G>C, XM_024450065.2:c.1172G>C, XM_024450065.1:c.1172G>C, XM_017022591.2:c.1145G>C, XM_017022591.1:c.1145G>C, NR_073598.2:n.1373G>C, NR_073598.1:n.1310G>C, XM_024450066.2:c.1097G>C, XM_024450066.1:c.1097G>C, XM_011522048.2:c.1145G>C, XM_011522048.1:c.1145G>C, XM_024450067.2:c.1256G>C, XM_024450067.1:c.1256G>C, XM_011522053.2:c.1145G>C, XM_011522053.1:c.1145G>C, NR_073596.2:n.1302G>C, NR_073596.1:n.1291G>C, NR_073597.2:n.1214G>C, NR_073597.1:n.1203G>C, XM_011522069.2:c.296G>C, XM_011522069.1:c.296G>C, XM_024450068.2:c.1256G>C, XM_024450068.1:c.1256G>C, XM_024450070.2:c.1256G>C, XM_024450070.1:c.1256G>C, XR_002957687.2:n.1461G>C, XR_002957687.1:n.1601G>C, XM_047433098.1:c.428G>C, XM_047433082.1:c.1145G>C, XM_047433084.1:c.1043G>C, XM_047433085.1:c.1013G>C, XM_047433086.1:c.1172G>C, XM_047433083.1:c.1061G>C, XM_047433087.1:c.959G>C, XM_047433099.1:c.1061G>C, XM_011522060.1:c.764G>C, XM_047433088.1:c.932G>C, XM_011522061.1:c.764G>C, XM_047433091.1:c.1013G>C, XM_047433089.1:c.1061G>C, XM_047433090.1:c.848G>C, XM_017022594.1:c.818G>C, XM_011522059.1:c.800G>C, XM_011522062.1:c.764G>C, XM_011522063.1:c.764G>C, XM_047433096.1:c.848G>C, XM_047433092.1:c.734G>C, XM_047433093.1:c.902G>C, XM_047433094.1:c.848G>C, XM_047433097.1:c.428G>C, XM_024450069.1:c.509G>C, XM_047433100.1:c.1256G>C, XP_011520354.1:p.Ser382Thr, XP_011520358.3:p.Ser382Thr, NP_079113.2:p.Ser354Thr, XP_011520360.1:p.Ser273Thr, XP_011520348.1:p.Ser419Thr, XP_011520351.1:p.Ser382Thr, XP_011520349.1:p.Ser382Thr, XP_016878076.2:p.Ser354Thr, XP_024305833.1:p.Ser391Thr, XP_016878080.1:p.Ser382Thr, XP_024305834.1:p.Ser366Thr, XP_011520350.1:p.Ser382Thr, XP_024305835.1:p.Ser419Thr, XP_011520355.1:p.Ser382Thr, XP_011520371.1:p.Ser99Thr, XP_024305836.1:p.Ser419Thr, XP_024305838.1:p.Ser419Thr, XP_047289054.1:p.Ser143Thr, XP_047289038.1:p.Ser382Thr, XP_047289040.1:p.Ser348Thr, XP_047289041.1:p.Ser338Thr, XP_047289042.1:p.Ser391Thr, XP_047289039.1:p.Ser354Thr, XP_047289043.1:p.Ser320Thr, XP_047289055.1:p.Ser354Thr, XP_011520362.1:p.Ser255Thr, XP_047289044.1:p.Ser311Thr, XP_011520363.1:p.Ser255Thr, XP_047289047.1:p.Ser338Thr, XP_047289045.1:p.Ser354Thr, XP_047289046.1:p.Ser283Thr, XP_016878083.1:p.Ser273Thr, XP_011520361.1:p.Ser267Thr, XP_011520364.1:p.Ser255Thr, XP_011520365.1:p.Ser255Thr, XP_047289052.1:p.Ser283Thr, XP_047289048.1:p.Ser245Thr, XP_047289049.1:p.Ser301Thr, XP_047289050.1:p.Ser283Thr, XP_047289053.1:p.Ser143Thr, XP_024305837.1:p.Ser170Thr, XP_047289056.1:p.Ser419Thr

                                16.

                                rs1482048010 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:49979741 (GRCh38)
                                  15:50271938 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:49979740:C:T
                                  Gene:
                                  ATP8B4 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.49979741C>T, NC_000015.9:g.50271938C>T, XM_011522052.4:c.994G>A, XM_011522052.3:c.994G>A, XM_011522052.2:c.994G>A, XM_011522052.1:c.994G>A, XM_011522056.4:c.994G>A, XM_011522056.3:c.994G>A, XM_011522056.2:c.1300G>A, XM_011522056.1:c.994G>A, NM_024837.4:c.910G>A, NM_024837.3:c.910G>A, XM_011522058.4:c.667G>A, XM_011522058.3:c.667G>A, XM_011522058.2:c.667G>A, XM_011522058.1:c.667G>A, XM_011522046.3:c.1105G>A, XM_011522046.2:c.1105G>A, XM_011522046.1:c.1105G>A, XM_011522049.3:c.994G>A, XM_011522049.2:c.994G>A, XM_011522049.1:c.994G>A, XM_011522047.3:c.994G>A, XM_011522047.2:c.994G>A, XM_011522047.1:c.994G>A, XM_017022587.3:c.910G>A, XM_017022587.2:c.910G>A, XM_017022587.1:c.1216G>A, XM_024450065.2:c.1021G>A, XM_024450065.1:c.1021G>A, XM_017022591.2:c.994G>A, XM_017022591.1:c.994G>A, NR_073598.2:n.1222G>A, NR_073598.1:n.1159G>A, XM_024450066.2:c.946G>A, XM_024450066.1:c.946G>A, XM_011522048.2:c.994G>A, XM_011522048.1:c.994G>A, XM_024450067.2:c.1105G>A, XM_024450067.1:c.1105G>A, XM_011522053.2:c.994G>A, XM_011522053.1:c.994G>A, NR_073596.2:n.1151G>A, NR_073596.1:n.1140G>A, NR_073597.2:n.1063G>A, NR_073597.1:n.1052G>A, XM_011522069.2:c.145G>A, XM_011522069.1:c.145G>A, XM_024450068.2:c.1105G>A, XM_024450068.1:c.1105G>A, XM_024450070.2:c.1105G>A, XM_024450070.1:c.1105G>A, XR_002957687.2:n.1310G>A, XR_002957687.1:n.1450G>A, XM_047433098.1:c.277G>A, XM_047433082.1:c.994G>A, XM_047433084.1:c.892G>A, XM_047433085.1:c.862G>A, XM_047433086.1:c.1021G>A, XM_047433083.1:c.910G>A, XM_047433087.1:c.808G>A, XM_047433099.1:c.910G>A, XM_011522060.1:c.613G>A, XM_047433088.1:c.781G>A, XM_011522061.1:c.613G>A, XM_047433091.1:c.862G>A, XM_047433089.1:c.910G>A, XM_047433090.1:c.697G>A, XM_017022594.1:c.667G>A, XM_011522059.1:c.649G>A, XM_011522062.1:c.613G>A, XM_011522063.1:c.613G>A, XM_047433096.1:c.697G>A, XM_047433092.1:c.583G>A, XM_047433093.1:c.751G>A, XM_047433094.1:c.697G>A, XM_047433097.1:c.277G>A, XM_024450069.1:c.358G>A, XM_047433100.1:c.1105G>A, XP_011520354.1:p.Asp332Asn, XP_011520358.3:p.Asp332Asn, NP_079113.2:p.Asp304Asn, XP_011520360.1:p.Asp223Asn, XP_011520348.1:p.Asp369Asn, XP_011520351.1:p.Asp332Asn, XP_011520349.1:p.Asp332Asn, XP_016878076.2:p.Asp304Asn, XP_024305833.1:p.Asp341Asn, XP_016878080.1:p.Asp332Asn, XP_024305834.1:p.Asp316Asn, XP_011520350.1:p.Asp332Asn, XP_024305835.1:p.Asp369Asn, XP_011520355.1:p.Asp332Asn, XP_011520371.1:p.Asp49Asn, XP_024305836.1:p.Asp369Asn, XP_024305838.1:p.Asp369Asn, XP_047289054.1:p.Asp93Asn, XP_047289038.1:p.Asp332Asn, XP_047289040.1:p.Asp298Asn, XP_047289041.1:p.Asp288Asn, XP_047289042.1:p.Asp341Asn, XP_047289039.1:p.Asp304Asn, XP_047289043.1:p.Asp270Asn, XP_047289055.1:p.Asp304Asn, XP_011520362.1:p.Asp205Asn, XP_047289044.1:p.Asp261Asn, XP_011520363.1:p.Asp205Asn, XP_047289047.1:p.Asp288Asn, XP_047289045.1:p.Asp304Asn, XP_047289046.1:p.Asp233Asn, XP_016878083.1:p.Asp223Asn, XP_011520361.1:p.Asp217Asn, XP_011520364.1:p.Asp205Asn, XP_011520365.1:p.Asp205Asn, XP_047289052.1:p.Asp233Asn, XP_047289048.1:p.Asp195Asn, XP_047289049.1:p.Asp251Asn, XP_047289050.1:p.Asp233Asn, XP_047289053.1:p.Asp93Asn, XP_024305837.1:p.Asp120Asn, XP_047289056.1:p.Asp369Asn

                                  17.

                                  rs1481327454 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    15:49934036 (GRCh38)
                                    15:50226233 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:49934035:C:A,NC_000015.10:49934035:C:T
                                    Gene:
                                    ATP8B4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    C=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    NC_000015.10:g.49934036C>A, NC_000015.10:g.49934036C>T, NC_000015.9:g.50226233C>A, NC_000015.9:g.50226233C>T, XM_011522052.4:c.1518G>T, XM_011522052.4:c.1518G>A, XM_011522052.3:c.1518G>T, XM_011522052.3:c.1518G>A, XM_011522052.2:c.1518G>T, XM_011522052.2:c.1518G>A, XM_011522052.1:c.1518G>T, XM_011522052.1:c.1518G>A, XM_011522056.4:c.1518G>T, XM_011522056.4:c.1518G>A, XM_011522056.3:c.1518G>T, XM_011522056.3:c.1518G>A, XM_011522056.2:c.1824G>T, XM_011522056.2:c.1824G>A, XM_011522056.1:c.1518G>T, XM_011522056.1:c.1518G>A, NM_024837.4:c.1434G>T, NM_024837.4:c.1434G>A, NM_024837.3:c.1434G>T, NM_024837.3:c.1434G>A, XM_011522058.4:c.1191G>T, XM_011522058.4:c.1191G>A, XM_011522058.3:c.1191G>T, XM_011522058.3:c.1191G>A, XM_011522058.2:c.1191G>T, XM_011522058.2:c.1191G>A, XM_011522058.1:c.1191G>T, XM_011522058.1:c.1191G>A, XM_011522046.3:c.1629G>T, XM_011522046.3:c.1629G>A, XM_011522046.2:c.1629G>T, XM_011522046.2:c.1629G>A, XM_011522046.1:c.1629G>T, XM_011522046.1:c.1629G>A, XM_011522049.3:c.1518G>T, XM_011522049.3:c.1518G>A, XM_011522049.2:c.1518G>T, XM_011522049.2:c.1518G>A, XM_011522049.1:c.1518G>T, XM_011522049.1:c.1518G>A, XM_011522047.3:c.1518G>T, XM_011522047.3:c.1518G>A, XM_011522047.2:c.1518G>T, XM_011522047.2:c.1518G>A, XM_011522047.1:c.1518G>T, XM_011522047.1:c.1518G>A, XM_017022587.3:c.1434G>T, XM_017022587.3:c.1434G>A, XM_017022587.2:c.1434G>T, XM_017022587.2:c.1434G>A, XM_017022587.1:c.1740G>T, XM_017022587.1:c.1740G>A, XM_024450065.2:c.1545G>T, XM_024450065.2:c.1545G>A, XM_024450065.1:c.1545G>T, XM_024450065.1:c.1545G>A, XM_017022591.2:c.1518G>T, XM_017022591.2:c.1518G>A, XM_017022591.1:c.1518G>T, XM_017022591.1:c.1518G>A, NR_073598.2:n.1746G>T, NR_073598.2:n.1746G>A, NR_073598.1:n.1683G>T, NR_073598.1:n.1683G>A, XM_024450066.2:c.1470G>T, XM_024450066.2:c.1470G>A, XM_024450066.1:c.1470G>T, XM_024450066.1:c.1470G>A, XM_011522048.2:c.1518G>T, XM_011522048.2:c.1518G>A, XM_011522048.1:c.1518G>T, XM_011522048.1:c.1518G>A, XM_024450067.2:c.1629G>T, XM_024450067.2:c.1629G>A, XM_024450067.1:c.1629G>T, XM_024450067.1:c.1629G>A, XM_011522053.2:c.1518G>T, XM_011522053.2:c.1518G>A, XM_011522053.1:c.1518G>T, XM_011522053.1:c.1518G>A, NR_073596.2:n.1675G>T, NR_073596.2:n.1675G>A, NR_073596.1:n.1664G>T, NR_073596.1:n.1664G>A, NR_073597.2:n.1587G>T, NR_073597.2:n.1587G>A, NR_073597.1:n.1576G>T, NR_073597.1:n.1576G>A, XM_011522069.2:c.669G>T, XM_011522069.2:c.669G>A, XM_011522069.1:c.669G>T, XM_011522069.1:c.669G>A, XM_011522070.2:c.75G>T, XM_011522070.2:c.75G>A, XM_011522070.1:c.75G>T, XM_011522070.1:c.75G>A, XM_024450068.2:c.1629G>T, XM_024450068.2:c.1629G>A, XM_024450068.1:c.1629G>T, XM_024450068.1:c.1629G>A, XM_024450070.2:c.1629G>T, XM_024450070.2:c.1629G>A, XM_024450070.1:c.1629G>T, XM_024450070.1:c.1629G>A, XR_002957687.2:n.1834G>T, XR_002957687.2:n.1834G>A, XR_002957687.1:n.1974G>T, XR_002957687.1:n.1974G>A, XM_047433098.1:c.801G>T, XM_047433098.1:c.801G>A, XM_047433082.1:c.1518G>T, XM_047433082.1:c.1518G>A, XM_047433084.1:c.1416G>T, XM_047433084.1:c.1416G>A, XM_047433085.1:c.1386G>T, XM_047433085.1:c.1386G>A, XM_047433086.1:c.1545G>T, XM_047433086.1:c.1545G>A, XM_047433083.1:c.1434G>T, XM_047433083.1:c.1434G>A, XM_047433087.1:c.1332G>T, XM_047433087.1:c.1332G>A, XM_047433099.1:c.1434G>T, XM_047433099.1:c.1434G>A, XM_011522060.1:c.1137G>T, XM_011522060.1:c.1137G>A, XM_047433088.1:c.1305G>T, XM_047433088.1:c.1305G>A, XM_011522061.1:c.1137G>T, XM_011522061.1:c.1137G>A, XM_047433091.1:c.1386G>T, XM_047433091.1:c.1386G>A, XM_047433089.1:c.1434G>T, XM_047433089.1:c.1434G>A, XM_047433090.1:c.1221G>T, XM_047433090.1:c.1221G>A, XM_017022594.1:c.1191G>T, XM_017022594.1:c.1191G>A, XM_011522059.1:c.1173G>T, XM_011522059.1:c.1173G>A, XM_011522062.1:c.1137G>T, XM_011522062.1:c.1137G>A, XM_011522063.1:c.1137G>T, XM_011522063.1:c.1137G>A, XM_047433096.1:c.1221G>T, XM_047433096.1:c.1221G>A, XM_047433092.1:c.1107G>T, XM_047433092.1:c.1107G>A, XM_047433093.1:c.1275G>T, XM_047433093.1:c.1275G>A, XM_047433094.1:c.1221G>T, XM_047433094.1:c.1221G>A, XM_047433097.1:c.801G>T, XM_047433097.1:c.801G>A, XM_024450069.1:c.882G>T, XM_024450069.1:c.882G>A, XM_047433100.1:c.1629G>T, XM_047433100.1:c.1629G>A, XP_011520354.1:p.Met506Ile, XP_011520354.1:p.Met506Ile, XP_011520358.3:p.Met506Ile, XP_011520358.3:p.Met506Ile, NP_079113.2:p.Met478Ile, NP_079113.2:p.Met478Ile, XP_011520360.1:p.Met397Ile, XP_011520360.1:p.Met397Ile, XP_011520348.1:p.Met543Ile, XP_011520348.1:p.Met543Ile, XP_011520351.1:p.Met506Ile, XP_011520351.1:p.Met506Ile, XP_011520349.1:p.Met506Ile, XP_011520349.1:p.Met506Ile, XP_016878076.2:p.Met478Ile, XP_016878076.2:p.Met478Ile, XP_024305833.1:p.Met515Ile, XP_024305833.1:p.Met515Ile, XP_016878080.1:p.Met506Ile, XP_016878080.1:p.Met506Ile, XP_024305834.1:p.Met490Ile, XP_024305834.1:p.Met490Ile, XP_011520350.1:p.Met506Ile, XP_011520350.1:p.Met506Ile, XP_024305835.1:p.Met543Ile, XP_024305835.1:p.Met543Ile, XP_011520355.1:p.Met506Ile, XP_011520355.1:p.Met506Ile, XP_011520371.1:p.Met223Ile, XP_011520371.1:p.Met223Ile, XP_011520372.1:p.Met25Ile, XP_011520372.1:p.Met25Ile, XP_024305836.1:p.Met543Ile, XP_024305836.1:p.Met543Ile, XP_024305838.1:p.Met543Ile, XP_024305838.1:p.Met543Ile, XP_047289054.1:p.Met267Ile, XP_047289054.1:p.Met267Ile, XP_047289038.1:p.Met506Ile, XP_047289038.1:p.Met506Ile, XP_047289040.1:p.Met472Ile, XP_047289040.1:p.Met472Ile, XP_047289041.1:p.Met462Ile, XP_047289041.1:p.Met462Ile, XP_047289042.1:p.Met515Ile, XP_047289042.1:p.Met515Ile, XP_047289039.1:p.Met478Ile, XP_047289039.1:p.Met478Ile, XP_047289043.1:p.Met444Ile, XP_047289043.1:p.Met444Ile, XP_047289055.1:p.Met478Ile, XP_047289055.1:p.Met478Ile, XP_011520362.1:p.Met379Ile, XP_011520362.1:p.Met379Ile, XP_047289044.1:p.Met435Ile, XP_047289044.1:p.Met435Ile, XP_011520363.1:p.Met379Ile, XP_011520363.1:p.Met379Ile, XP_047289047.1:p.Met462Ile, XP_047289047.1:p.Met462Ile, XP_047289045.1:p.Met478Ile, XP_047289045.1:p.Met478Ile, XP_047289046.1:p.Met407Ile, XP_047289046.1:p.Met407Ile, XP_016878083.1:p.Met397Ile, XP_016878083.1:p.Met397Ile, XP_011520361.1:p.Met391Ile, XP_011520361.1:p.Met391Ile, XP_011520364.1:p.Met379Ile, XP_011520364.1:p.Met379Ile, XP_011520365.1:p.Met379Ile, XP_011520365.1:p.Met379Ile, XP_047289052.1:p.Met407Ile, XP_047289052.1:p.Met407Ile, XP_047289048.1:p.Met369Ile, XP_047289048.1:p.Met369Ile, XP_047289049.1:p.Met425Ile, XP_047289049.1:p.Met425Ile, XP_047289050.1:p.Met407Ile, XP_047289050.1:p.Met407Ile, XP_047289053.1:p.Met267Ile, XP_047289053.1:p.Met267Ile, XP_024305837.1:p.Met294Ile, XP_024305837.1:p.Met294Ile, XP_047289056.1:p.Met543Ile, XP_047289056.1:p.Met543Ile

                                    18.

                                    rs1481177608 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:49987405 (GRCh38)
                                      15:50279602 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:49987404:A:G
                                      Gene:
                                      ATP8B4 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000015.10:g.49987405A>G, NC_000015.9:g.50279602A>G, XM_011522052.4:c.818T>C, XM_011522052.3:c.818T>C, XM_011522052.2:c.818T>C, XM_011522052.1:c.818T>C, XM_011522056.4:c.818T>C, XM_011522056.3:c.818T>C, XM_011522056.2:c.1124T>C, XM_011522056.1:c.818T>C, NM_024837.4:c.734T>C, NM_024837.3:c.734T>C, XM_011522058.4:c.491T>C, XM_011522058.3:c.491T>C, XM_011522058.2:c.491T>C, XM_011522058.1:c.491T>C, XM_011522046.3:c.929T>C, XM_011522046.2:c.929T>C, XM_011522046.1:c.929T>C, XM_011522049.3:c.818T>C, XM_011522049.2:c.818T>C, XM_011522049.1:c.818T>C, XM_011522047.3:c.818T>C, XM_011522047.2:c.818T>C, XM_011522047.1:c.818T>C, XM_017022587.3:c.734T>C, XM_017022587.2:c.734T>C, XM_017022587.1:c.1040T>C, XM_024450065.2:c.845T>C, XM_024450065.1:c.845T>C, XM_017022591.2:c.818T>C, XM_017022591.1:c.818T>C, NR_073598.2:n.1046T>C, NR_073598.1:n.983T>C, XM_011522048.2:c.818T>C, XM_011522048.1:c.818T>C, XM_024450067.2:c.929T>C, XM_024450067.1:c.929T>C, XM_011522053.2:c.818T>C, XM_011522053.1:c.818T>C, NR_073596.2:n.975T>C, NR_073596.1:n.964T>C, NR_073597.2:n.887T>C, NR_073597.1:n.876T>C, XM_024450068.2:c.929T>C, XM_024450068.1:c.929T>C, XM_024450070.2:c.929T>C, XM_024450070.1:c.929T>C, XR_002957687.2:n.1134T>C, XR_002957687.1:n.1274T>C, XM_047433098.1:c.101T>C, XM_047433082.1:c.818T>C, XM_047433084.1:c.716T>C, XM_047433086.1:c.845T>C, XM_047433083.1:c.734T>C, XM_047433087.1:c.632T>C, XM_047433099.1:c.734T>C, XM_011522060.1:c.437T>C, XM_047433088.1:c.605T>C, XM_011522061.1:c.437T>C, XM_047433089.1:c.734T>C, XM_047433090.1:c.521T>C, XM_017022594.1:c.491T>C, XM_011522059.1:c.473T>C, XM_011522062.1:c.437T>C, XM_011522063.1:c.437T>C, XM_047433096.1:c.521T>C, XM_047433092.1:c.407T>C, XM_047433094.1:c.521T>C, XM_047433097.1:c.101T>C, XM_024450069.1:c.182T>C, XM_047433100.1:c.929T>C, XP_011520354.1:p.Met273Thr, XP_011520358.3:p.Met273Thr, NP_079113.2:p.Met245Thr, XP_011520360.1:p.Met164Thr, XP_011520348.1:p.Met310Thr, XP_011520351.1:p.Met273Thr, XP_011520349.1:p.Met273Thr, XP_016878076.2:p.Met245Thr, XP_024305833.1:p.Met282Thr, XP_016878080.1:p.Met273Thr, XP_011520350.1:p.Met273Thr, XP_024305835.1:p.Met310Thr, XP_011520355.1:p.Met273Thr, XP_024305836.1:p.Met310Thr, XP_024305838.1:p.Met310Thr, XP_047289054.1:p.Met34Thr, XP_047289038.1:p.Met273Thr, XP_047289040.1:p.Met239Thr, XP_047289042.1:p.Met282Thr, XP_047289039.1:p.Met245Thr, XP_047289043.1:p.Met211Thr, XP_047289055.1:p.Met245Thr, XP_011520362.1:p.Met146Thr, XP_047289044.1:p.Met202Thr, XP_011520363.1:p.Met146Thr, XP_047289045.1:p.Met245Thr, XP_047289046.1:p.Met174Thr, XP_016878083.1:p.Met164Thr, XP_011520361.1:p.Met158Thr, XP_011520364.1:p.Met146Thr, XP_011520365.1:p.Met146Thr, XP_047289052.1:p.Met174Thr, XP_047289048.1:p.Met136Thr, XP_047289050.1:p.Met174Thr, XP_047289053.1:p.Met34Thr, XP_024305837.1:p.Met61Thr, XP_047289056.1:p.Met310Thr

                                      19.

                                      rs1481060894 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:49918941 (GRCh38)
                                        15:50211138 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:49918940:C:T
                                        Gene:
                                        ATP8B4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.49918941C>T, NC_000015.9:g.50211138C>T, XM_011522052.4:c.2017G>A, XM_011522052.3:c.2017G>A, XM_011522052.2:c.2017G>A, XM_011522052.1:c.2017G>A, XM_011522056.4:c.2017G>A, XM_011522056.3:c.2017G>A, XM_011522056.2:c.2323G>A, XM_011522056.1:c.2017G>A, NM_024837.4:c.1933G>A, NM_024837.3:c.1933G>A, XM_011522058.4:c.1690G>A, XM_011522058.3:c.1690G>A, XM_011522058.2:c.1690G>A, XM_011522058.1:c.1690G>A, XM_011522046.3:c.2128G>A, XM_011522046.2:c.2128G>A, XM_011522046.1:c.2128G>A, XM_011522049.3:c.2017G>A, XM_011522049.2:c.2017G>A, XM_011522049.1:c.2017G>A, XM_011522047.3:c.2017G>A, XM_011522047.2:c.2017G>A, XM_011522047.1:c.2017G>A, XM_017022587.3:c.1933G>A, XM_017022587.2:c.1933G>A, XM_017022587.1:c.2239G>A, XM_024450065.2:c.2044G>A, XM_024450065.1:c.2044G>A, XM_017022591.2:c.2017G>A, XM_017022591.1:c.2017G>A, NR_073598.2:n.2245G>A, NR_073598.1:n.2182G>A, XM_024450066.2:c.1969G>A, XM_024450066.1:c.1969G>A, XM_011522048.2:c.2017G>A, XM_011522048.1:c.2017G>A, XM_024450067.2:c.1939G>A, XM_024450067.1:c.1939G>A, XM_011522053.2:c.2017G>A, XM_011522053.1:c.2017G>A, NR_073596.2:n.1985G>A, NR_073596.1:n.1974G>A, NR_073597.2:n.2086G>A, NR_073597.1:n.2075G>A, XM_011522069.2:c.1168G>A, XM_011522069.1:c.1168G>A, XM_011522070.2:c.574G>A, XM_011522070.1:c.574G>A, XM_024450068.2:c.2128G>A, XM_024450068.1:c.2128G>A, XM_047433098.1:c.1300G>A, XM_047433082.1:c.2017G>A, XM_047433084.1:c.1915G>A, XM_047433085.1:c.1885G>A, XM_047433086.1:c.1855G>A, XM_047433083.1:c.1933G>A, XM_047433087.1:c.1831G>A, XM_047433099.1:c.1933G>A, XM_011522060.1:c.1636G>A, XM_047433088.1:c.1804G>A, XM_011522061.1:c.1636G>A, XM_047433091.1:c.1696G>A, XM_047433089.1:c.1744G>A, XM_047433090.1:c.1720G>A, XM_017022594.1:c.1690G>A, XM_011522059.1:c.1672G>A, XM_011522062.1:c.1636G>A, XM_011522063.1:c.1636G>A, XM_047433096.1:c.1531G>A, XM_047433092.1:c.1606G>A, XM_047433093.1:c.1585G>A, XM_047433094.1:c.1531G>A, XM_047433097.1:c.1300G>A, XM_024450069.1:c.1381G>A, XM_047433100.1:c.2128G>A, XP_011520354.1:p.Ala673Thr, XP_011520358.3:p.Ala673Thr, NP_079113.2:p.Ala645Thr, XP_011520360.1:p.Ala564Thr, XP_011520348.1:p.Ala710Thr, XP_011520351.1:p.Ala673Thr, XP_011520349.1:p.Ala673Thr, XP_016878076.2:p.Ala645Thr, XP_024305833.1:p.Ala682Thr, XP_016878080.1:p.Ala673Thr, XP_024305834.1:p.Ala657Thr, XP_011520350.1:p.Ala673Thr, XP_024305835.1:p.Ala647Thr, XP_011520355.1:p.Ala673Thr, XP_011520371.1:p.Ala390Thr, XP_011520372.1:p.Ala192Thr, XP_024305836.1:p.Ala710Thr, XP_047289054.1:p.Ala434Thr, XP_047289038.1:p.Ala673Thr, XP_047289040.1:p.Ala639Thr, XP_047289041.1:p.Ala629Thr, XP_047289042.1:p.Ala619Thr, XP_047289039.1:p.Ala645Thr, XP_047289043.1:p.Ala611Thr, XP_047289055.1:p.Ala645Thr, XP_011520362.1:p.Ala546Thr, XP_047289044.1:p.Ala602Thr, XP_011520363.1:p.Ala546Thr, XP_047289047.1:p.Ala566Thr, XP_047289045.1:p.Ala582Thr, XP_047289046.1:p.Ala574Thr, XP_016878083.1:p.Ala564Thr, XP_011520361.1:p.Ala558Thr, XP_011520364.1:p.Ala546Thr, XP_011520365.1:p.Ala546Thr, XP_047289052.1:p.Ala511Thr, XP_047289048.1:p.Ala536Thr, XP_047289049.1:p.Ala529Thr, XP_047289050.1:p.Ala511Thr, XP_047289053.1:p.Ala434Thr, XP_024305837.1:p.Ala461Thr, XP_047289056.1:p.Ala710Thr

                                        20.

                                        rs1480043687 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          15:49876322 (GRCh38)
                                          15:50168519 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:49876321:C:T
                                          Gene:
                                          ATP8B4 (Varview), LOC102724587 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000015.10:g.49876322C>T, NC_000015.9:g.50168519C>T, XM_011522052.4:c.3067G>A, XM_011522052.3:c.3067G>A, XM_011522052.2:c.3067G>A, XM_011522052.1:c.3067G>A, XM_011522056.4:c.3067G>A, XM_011522056.3:c.3067G>A, XM_011522056.2:c.3373G>A, XM_011522056.1:c.3067G>A, NM_024837.4:c.2983G>A, NM_024837.3:c.2983G>A, XM_011522058.4:c.2740G>A, XM_011522058.3:c.2740G>A, XM_011522058.2:c.2740G>A, XM_011522058.1:c.2740G>A, XM_011522046.3:c.3178G>A, XM_011522046.2:c.3178G>A, XM_011522046.1:c.3178G>A, XM_011522049.3:c.3067G>A, XM_011522049.2:c.3067G>A, XM_011522049.1:c.3067G>A, XM_011522047.3:c.3067G>A, XM_011522047.2:c.3067G>A, XM_011522047.1:c.3067G>A, XM_017022587.3:c.2983G>A, XM_017022587.2:c.2983G>A, XM_017022587.1:c.3289G>A, XM_024450065.2:c.3094G>A, XM_024450065.1:c.3094G>A, XM_017022591.2:c.3067G>A, XM_017022591.1:c.3067G>A, NR_073598.2:n.3295G>A, NR_073598.1:n.3232G>A, XM_024450066.2:c.3019G>A, XM_024450066.1:c.3019G>A, XM_011522048.2:c.3067G>A, XM_011522048.1:c.3067G>A, XM_024450067.2:c.2989G>A, XM_024450067.1:c.2989G>A, XM_011522053.2:c.3067G>A, XM_011522053.1:c.3067G>A, NR_073596.2:n.3035G>A, NR_073596.1:n.3024G>A, NR_073597.2:n.2988G>A, NR_073597.1:n.2977G>A, XM_011522069.2:c.2218G>A, XM_011522069.1:c.2218G>A, XM_011522070.2:c.1624G>A, XM_011522070.1:c.1624G>A, XM_024450068.2:c.3178G>A, XM_024450068.1:c.3178G>A, XM_047433098.1:c.2350G>A, XM_047433082.1:c.3067G>A, XM_047433084.1:c.2965G>A, XM_047433085.1:c.2935G>A, XM_047433086.1:c.2905G>A, XM_047433083.1:c.2983G>A, XM_047433087.1:c.2881G>A, XM_011522060.1:c.2686G>A, XM_047433088.1:c.2854G>A, XM_011522061.1:c.2686G>A, XM_047433091.1:c.2746G>A, XM_047433089.1:c.2794G>A, XM_047433090.1:c.2770G>A, XM_017022594.1:c.2740G>A, XM_011522059.1:c.2722G>A, XM_011522062.1:c.2686G>A, XM_011522063.1:c.2686G>A, XM_047433096.1:c.2581G>A, XM_047433092.1:c.2656G>A, XM_047433093.1:c.2635G>A, XM_047433094.1:c.2581G>A, XM_047433097.1:c.2350G>A, XM_024450069.1:c.2431G>A, XP_011520354.1:p.Ala1023Thr, XP_011520358.3:p.Ala1023Thr, NP_079113.2:p.Ala995Thr, XP_011520360.1:p.Ala914Thr, XP_011520348.1:p.Ala1060Thr, XP_011520351.1:p.Ala1023Thr, XP_011520349.1:p.Ala1023Thr, XP_016878076.2:p.Ala995Thr, XP_024305833.1:p.Ala1032Thr, XP_016878080.1:p.Ala1023Thr, XP_024305834.1:p.Ala1007Thr, XP_011520350.1:p.Ala1023Thr, XP_024305835.1:p.Ala997Thr, XP_011520355.1:p.Ala1023Thr, XP_011520371.1:p.Ala740Thr, XP_011520372.1:p.Ala542Thr, XP_024305836.1:p.Ala1060Thr, XP_047289054.1:p.Ala784Thr, XP_047289038.1:p.Ala1023Thr, XP_047289040.1:p.Ala989Thr, XP_047289041.1:p.Ala979Thr, XP_047289042.1:p.Ala969Thr, XP_047289039.1:p.Ala995Thr, XP_047289043.1:p.Ala961Thr, XP_011520362.1:p.Ala896Thr, XP_047289044.1:p.Ala952Thr, XP_011520363.1:p.Ala896Thr, XP_047289047.1:p.Ala916Thr, XP_047289045.1:p.Ala932Thr, XP_047289046.1:p.Ala924Thr, XP_016878083.1:p.Ala914Thr, XP_011520361.1:p.Ala908Thr, XP_011520364.1:p.Ala896Thr, XP_011520365.1:p.Ala896Thr, XP_047289052.1:p.Ala861Thr, XP_047289048.1:p.Ala886Thr, XP_047289049.1:p.Ala879Thr, XP_047289050.1:p.Ala861Thr, XP_047289053.1:p.Ala784Thr, XP_024305837.1:p.Ala811Thr

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