Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_012344.4
p.A54V
c.161C>T
NM_012344.4
p.L84del1
c.250_252delCAG
NM_012344.4
p.P187L
c.560C>T
NM_012344.4
p.T250_S252del3
c.748_755del9
NM_012344.4
p.P15T
c.43C>A
NM_012344.4
p.W30*
c.89G>A
NM_012344.4
p.W30*
c.90G>A
NM_012344.4
p.L81L
c.243G>A
NM_012344.4
p.W96delFs
c.288delC
NM_012344.4
p.A121S
c.361G>T
NM_012344.4
p.A121V
c.362C>T
NM_012344.4
p.R133G
c.397C>G