Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_015483.3
p.R370H
c.1109G>A
NM_015483.3
p.M47K
c.140T>A
NM_015483.3
p.R57K
c.170G>A
NM_015483.3
p.D98N
c.292G>A
NM_015483.3
p.E102*
c.304G>T
NM_015483.3
p.S138N
c.413G>A
NM_015483.3
p.A152A
c.456T>C
NM_015483.3
p.D167D
c.501C>T
NM_015483.3
p.A168T
c.502G>A
NM_015483.3
p.H174Y
c.520C>T
NM_015483.3
p.S183C
c.547A>T
NM_015483.3
p.R209Q
c.626G>A