Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_001048183.3
p.Q390K
c.1168C>A
NM_001048183.3
p.A537P
c.1609G>C
NM_001048183.3
p.L380I
c.1138C>A
NM_001048183.3
p.S54delFs
c.160delA
NM_001048183.3
p.T61delFs
c.181delA
NM_001048183.3
p.P385L
c.1154C>T
NM_001048183.3
p.L623P
c.1868T>C
NM_001048183.3
p.E6V
c.17A>T
NM_001048183.3
p.E6Splc
c.17-21587A>G
NM_001048183.3
p.G16V
c.47G>T
NM_001048183.3
p.S21T
c.62G>C
NM_001048183.3
p.A24T
c.70G>A