Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_014949.4
p.Q444P
c.1331A>C
NM_014949.4
p.Q446P
c.1337A>C
NM_014949.4
p.R516fs
c.1546_1547fs
NM_014949.4
p.S5R
c.13A>C
NM_014949.4
p.S5R
c.15C>G
NM_014949.4
p.S5R
c.15C>A
NM_014949.4
p.R15C
c.43C>T
NM_014949.4
p.G36R
c.106G>C
NM_014949.4
p.G36R
c.106G>A
NM_014949.4
p.S40delFs
c.120delG
NM_014949.4
p.V62fs
c.184_185fs
NM_014949.4
p.K85_L86Splc
c.256-1332T>G