Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_003616.3
p.A2G
c.5C>G
NM_003616.3
p.P15_R16insFs
c.45_46insT
NM_003616.3
p.D30N
c.88G>A
NM_003616.3
p.E40V
c.119A>T
NM_003616.3
p.L42insFs
c.124_125insT
NM_003616.3
p.A206_L207insFs
c.618_619insT
NM_003616.3
p.A6_E7insFs
c.18_19insA
NM_003616.3
p.R16W
c.46C>T
NM_003616.3
p.D24Y
c.70G>T
NM_003616.3
p.P34L
c.101C>T
NM_003616.3
p.L42L
c.126G>T
NM_003616.3
p.Q46Splc
c.138-17T>G