Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_016631.4
p.R538C
c.1612C>T
NM_016631.4
p.R664*
c.1990C>T
NM_016631.4
p.S720A
c.2158T>G
NM_016631.4
p.M1K
c.2T>A
NM_016631.4
p.R23fs
c.67_68fs
NM_016631.4
p.G39S
c.115G>A
NM_016631.4
p.P59L
c.176C>T
NM_016631.4
p.P69L
c.206C>T
NM_016631.4
p.G78D
c.233G>A
NM_016631.4
p.F79I
c.235T>A
NM_016631.4
p.K123N
c.369G>T
NM_016631.4
p.K123N
c.369G>C