Genename |
Variants |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1806137C>T,c.709G>A,p.V237M |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1806101C>T,c.745G>A,p.V249I |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1805415G>A,c.862C>T,p.H288Y |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1800152G>A,c.1346C>T,p.S449F |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1799952C>T,c.1546G>A,p.V516I |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1796981G>A,c.1576C>T,p.R526X |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1796880T>C,c.1585-2A>G,p.529Acceptor |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1796715C>T,c.1748G>A,p.R583H |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1796166C>T,c.1852G>A,p.V618I |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1796099G>A,c.1919C>T,p.T640M |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1796084G>A,c.1934C>T,p.S645L |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1792135C>G,c.2056-1G>C,p.686Acceptor |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1790763C>T,c.2371G>A,p.E791K |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1789960T>C,c.2407A>G,p.S803G |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1789545G>A,c.2660C>T,p.A887V |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1789516G>A,c.2689C>T,p.R897C |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1789059T>G,c.2906A>C,p.D969A |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1788909C>T,c.3056G>A,p.G1019D |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1787157A>T,c.3098T>A,p.L1033H |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1785587C>T,c.3274G>A,p.V1092I |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1785550G>A,c.3311C>T,p.T1104M |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1785185C>T,c.3505G>A,p.V1169I |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1783242C>T,c.3688G>A,p.E1230K |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1783184C>T,c.3746G>A,p.R1249H |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1783146T>G,c.3784A>C,p.N1262H |
ATP8B3(NM_138813,ATPase, aminophospholipid transporter, class I, type 8B, member 3,1300aa) |
g.19:1783027T>C,c.3903A>G,p.X1301W |
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) |
g.1:154321541A>G,c.3619A>G,p.S1207G |
ATP8B2(NM_020452,ATPase, aminophospholipid transporter, class I, type 8B, member 2,1223aa) |
g.1:154321382C>T,c.3460C>T,p.R1154C |