Genename |
Variants |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57422511C>T,c.166G>A,p.E56K |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57422484C>T,c.193G>A,p.G65R |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57422481T>A,c.196A>T,p.S66C |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57420486G>A,c.250C>T,p.R84C |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57417851A>G,c.380T>C,p.I127T |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57417782G>A,c.449C>T,p.P150L |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57415368G>A,c.568C>T,p.R190C |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57415367C>T,c.569G>A,p.R190H |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57415310G>A,c.626C>T,p.P209L |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57411704G>A,c.739C>T,p.L247F |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57411632G>A,c.811C>T,p.R271W |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57409459C>A,c.988G>T,p.D330Y |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57406638G>A,c.1126C>T,p.R376X |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57406565C>G,c.1199G>C,p.W400S |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57395228G>A,c.1469C>T,p.T490I |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57395130T>C,c.1567A>G,p.N523D |
C8B(NM_001278543,complement component 8, beta polypeptide,539aa) |
g.1:57395093G>A,c.1604C>T,p.T535I |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57383358C>T,c.1724C>T,p.P575L |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57383357C>T,c.1723C>T,p.P575S |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57383315G>C,c.1681G>C,p.E561Q |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57383288A>G,c.1654A>G,p.R552G |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57378253C>T,c.1558C>T,p.R520C |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57378193G>A,c.1498G>A,p.G500R |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57378149G>T,c.1454G>T,p.R485L |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57378149G>A,c.1454G>A,p.R485H |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57378134G>A,c.1439G>A,p.R480H |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57373737G>A,c.1331G>A,p.R444H |
C8A(NM_000562,complement component 8, alpha polypeptide,584aa) |
g.1:57373727A>G,c.1321A>G,p.I441V |