Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_001144774.3
p.L270F
c.808C>T
NM_001144774.3
p.Y52S
c.155A>C
NM_001144774.3
p.I129I
c.387C>T
NM_001144774.3
p.T142delFs
c.424delA
NM_001144774.3
p.E187K
c.559G>A
NM_001144774.3
p.G235D
c.704G>A
NM_001144774.3
p.H238Y
c.712C>T
NM_001144774.3
p.M1T
c.2T>C
NM_001144774.3
p.S13*
c.38C>G
NM_001144774.3
p.P16L
c.47C>T
NM_001144774.3
p.S21Fs
c.62delinsGCFs
NM_001144774.3
p.N22fs
c.64_65fs