Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_018487.3
p.G111D
c.332G>A
NM_018487.3
p.L187F
c.561G>C
NM_018487.3
p.L187F
c.561G>T
NM_018487.3
p.R109W
c.325C>T
NM_018487.3
p.T122A
c.364A>G
NM_018487.3
p.R41insFs
c.123dupG
NM_018487.3
p.A47_S50delFs
c.139_148del10
NM_018487.3
p.A47fs
c.139_140fs
NM_018487.3
p.S51I
c.152G>T
NM_018487.3
p.V59E
c.176T>A
NM_018487.3
p.F74L
c.220T>C
NM_018487.3
p.F74L
c.222T>A