Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_201589.4
p.S64F
c.191C>T
NM_201589.4
p.H207_H208del1
c.621_623delTGG
NM_201589.4
p.H208del1
c.622_623delATG
NM_201589.4
p.H207_H208del2
c.619_623del6
NM_201589.4
p.C69_A70delFs
c.207_208delCG
NM_201589.4
p.L11P
c.32T>C
NM_201589.4
p.T57R
c.170C>G
NM_201589.4
p.H206_H208del0
c.618_623del6
NM_201589.4
p.P54L
c.161C>T
NM_201589.4
p.T57A
c.169A>G
NM_201589.4
p.H208delFs
c.623delT
NM_201589.4
p.Y267F
c.800A>T