Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_001040274.3
p.P672S
c.2014C>T
NM_001040274.3
p.S52fs
c.154_155fs
NM_001040274.3
p.S134L
c.401C>T
NM_001040274.3
p.K50_E51delFs
c.150_151delAG
NM_001040274.3
p.S150_R151del2
c.448_452del6
NM_001040274.3
p.I333M
c.999A>G
NM_001040274.3
p.D478N
c.1432G>A
NM_001040274.3
p.P486L
c.1457C>T
NM_001040274.3
p.N647D
c.1939A>G
NM_001040274.3
p.L62_L66del0
c.184_198del15
NM_001040274.3
p.L61F
c.181C>T
NM_001040274.3
p.N71T
c.212A>C