Papers
RefSeq ID
Protein change
DNA change
1–12 of 133 variants
NM_002199.4
p.G248G
c.744G>A
NM_002199.4
p.K31N
c.93G>T
NM_002199.4
p.K31N
c.93G>C
NM_002199.4
p.R253Q
c.758G>A
NM_002199.4
p.R7C
c.19C>T
NM_002199.4
p.T20S
c.58A>T
NM_002199.4
p.Q35*
c.103C>T
NM_002199.4
p.A41V
c.122C>T
NM_002199.4
p.K78R
c.233A>G
NM_002199.4
p.I136M
c.408C>G
NM_002199.4
p.K137Q
c.409A>C
NM_002199.4
p.N167fs
c.499_500fs