Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_001365715.1
p.R118C
c.352C>T
NM_001365715.1
p.C148Y
c.443G>A
NM_001365715.1
p.K431N
c.1293A>C
NM_001365715.1
p.K431N
c.1293A>T
NM_001365715.1
p.C689Y
c.2066G>A
NM_001365715.1
p.T18insFs
c.53_54ins4
NM_001365715.1
p.V19I
c.55G>A
NM_001365715.1
p.S65I
c.194G>T
NM_001365715.1
p.R86R
c.256C>A
NM_001365715.1
p.R86G
c.256C>G
NM_001365715.1
p.I97S
c.290T>G
NM_001365715.1
p.H103L
c.308A>T