Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_007040.6
p.Y137C
c.410A>G
NM_007040.6
p.R469W
c.1405C>T
NM_007040.6
p.G19A
c.56G>C
NM_007040.6
p.E45*
c.133G>T
NM_007040.6
p.R46L
c.137G>T
NM_007040.6
p.P54Q
c.161C>A
NM_007040.6
p.G58W
c.172G>T
NM_007040.6
p.G82A
c.245G>C
NM_007040.6
p.A136delFs
c.406_407delGC
NM_007040.6
p.R165M
c.494G>T
NM_007040.6
p.R179W
c.535C>T
NM_007040.6
p.A240E
c.719C>A