Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_016242.4
p.V33del1
c.97_99delAAC
NM_016242.4
p.L11delFs
c.33delA
NM_016242.4
p.K97_D99del3
c.289_296del9
NM_016242.4
p.M1R
c.2T>G
NM_016242.4
p.N19I
c.56A>T
NM_016242.4
p.G22Splc
c.65-3C>T
NM_016242.4
p.N28D
c.82A>G
NM_016242.4
p.V33I
c.97G>A
NM_016242.4
p.T36T
c.108A>G
NM_016242.4
p.P38Q
c.113C>A
NM_016242.4
p.K50delFs
c.150delT
NM_016242.4
p.V53L
c.157G>C