Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_014718.4
p.R876C
c.2626C>T
NM_014718.4
p.A15T
c.43G>A
NM_014718.4
p.R165W
c.493C>T
NM_014718.4
p.A168S
c.502G>T
NM_014718.4
p.S261N
c.782G>A
NM_014718.4
p.K500N
c.1500A>T
NM_014718.4
p.H874Y
c.2620C>T
NM_014718.4
p.M1insFs
c.3dupG
NM_014718.4
p.L4Q
c.11T>A
NM_014718.4
p.L6insFs
c.16_17ins5
NM_014718.4
p.V37I
c.109G>A
NM_014718.4
p.L53_D54ins2
c.159_160ins6