Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_001338.5
p.K262R
c.785A>G
NM_001338.5
p.D180D
c.540C>T
NM_001338.5
p.S46G
c.136A>G
NM_001338.5
p.Q172H
c.516G>T
NM_001338.5
p.V13E
c.38T>A
NM_001338.5
p.S21G
c.61A>G
NM_001338.5
p.K131R
c.392A>G
NM_001338.5
p.P141T
c.421C>A
NM_001338.5
p.C259*
c.777C>A
NM_001338.5
p.S323R
c.967A>C
NM_001338.5
p.S323R
c.969T>A
NM_001338.5
p.S323R
c.969T>G