| Genename | Variants |
|---|---|
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50366373C>T,c.38G>A,p.R13Q |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50366353G>C,c.58C>G,p.R20G |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50339655G>A,c.94C>T,p.R32C |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50336844G>C,c.247C>G,p.P83A |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50336795T>C,c.296A>G,p.D99G |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50294407A>G,c.449T>C,p.L150P |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50288937G>A,c.526C>T,p.R176C |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50279679G>C,c.657C>G,p.D219E |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50279662T>C,c.674A>G,p.N225S |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50279623T>C,c.713A>G,p.N238S |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50271864C>T,c.984G>A,p.W328X |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50264839C>T,c.1183G>A,p.G395S |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50264806T>C,c.1216A>G,p.R406G |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50264784A>T,c.1238T>A,p.I413N |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50226359G>C,c.1308C>G,p.F436L |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50226313G>T,c.1354C>A,p.H452N |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50223504C>T,c.1454G>A,p.G485E |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50223421G>A,c.1537C>T,p.R513W |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50223353C>A,c.1605G>T,p.L535F |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50211050G>A,c.2021C>T,p.T674I |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50190375C>A,c.2363G>T,p.C788F |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50189566A>G,c.2620T>C,p.C874R |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50152624G>A,c.3346C>T,p.R1116X |
| ATP8B4(NM_024837,ATPase, class I, type 8B, member 4,1192aa) | g.15:50152475A>T,c.3495T>A,p.N1165K |
| ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) | g.19:1811603C>T,c.133G>A,p.G45R |
| ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) | g.19:1808318G>A,c.419C>T,p.T140M |
| ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) | g.19:1808227_1808229del,c.508_510del,p.170del |
| ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) | g.19:1806667C>T,c.637G>A,p.A213T |