Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_030961.3
p.R395W
c.1183C>T
NM_030961.3
p.E12E
c.36G>A
NM_030961.3
p.E12D
c.36G>C
NM_030961.3
p.E12D
c.36G>T
NM_030961.3
p.D17N
c.49G>A
NM_030961.3
p.R53R
c.159C>T
NM_030961.3
p.E68V
c.203A>T
NM_030961.3
p.K98R
c.293A>G
NM_030961.3
p.A102A
c.306C>G
NM_030961.3
p.G108S
c.322G>A
NM_030961.3
p.G109D
c.326G>A
NM_030961.3
p.T112fs
c.334_335fs