Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_033160.7
p.G63del1
c.187_188delGGA
NM_033160.7
p.H340Q
c.1020T>A
NM_033160.7
p.H340Q
c.1020T>G
NM_033160.7
p.S976C
c.2927C>G
NM_033160.7
p.R19Q
c.56G>A
NM_033160.7
p.E21delFs
c.62_63delAG
NM_033160.7
p.E21_W22delFs
c.63_64delGT
NM_033160.7
p.E29D
c.87G>C
NM_033160.7
p.E29D
c.87G>T
NM_033160.7
p.T31M
c.92C>T
NM_033160.7
p.P54P
c.162T>C
NM_033160.7
p.K62_G63del2
c.184_188del6