Papers
RefSeq ID
Protein change
DNA change
1–12 of 343 variants
NM_015331.3
p.P211R
c.632C>G
NM_015331.3
p.R117*
c.349C>T
NM_015331.3
p.V75I
c.223G>A
NM_015331.3
p.Q216P
c.647A>C
NM_015331.3
p.D185N
c.553G>A
NM_015331.3
p.Q420*
c.1258C>T
NM_015331.3
p.G332_E333Splc
c.996+7G>A
NM_015331.3
p.R434*
c.1300C>T
NM_015331.3
p.Q568*
c.1702C>T
NM_015331.3
p.T70_G71delFs
c.210_211delAG
NM_015331.3
p.Q163delFs
c.487delC
NM_015331.3
p.Q367_V368Splc
c.1101+1G>A