Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_033505.4
p.R112P
c.335G>C
NM_033505.4
p.R112C
c.334C>T
NM_033505.4
p.R244Splc
c.732-2A>G
NM_033505.4
p.K42K
c.126G>A
NM_033505.4
p.P45L
c.134C>T
NM_033505.4
p.H82N
c.244C>A
NM_033505.4
p.M1V
c.1A>G
NM_033505.4
p.K19_Y20Splc
c.58-6125A>T
NM_033505.4
p.S21R
c.61A>C
NM_033505.4
p.S21R
c.63T>A
NM_033505.4
p.S21R
c.63T>G
NM_033505.4
p.A22G
c.65C>G