Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_012476.3
p.P254R
c.761C>G
NM_012476.3
p.L139M
c.415C>A
NM_012476.3
p.L139R
c.416T>G
NM_012476.3
p.P240Q
c.719C>A
NM_012476.3
p.G2delFs
c.4delG
NM_012476.3
p.R14S
c.40C>A
NM_012476.3
p.R15R
c.43C>A
NM_012476.3
p.R24G
c.70C>G
NM_012476.3
p.D65G
c.194A>G
NM_012476.3
p.R78C
c.232C>T
NM_012476.3
p.R78H
c.233G>A
NM_012476.3
p.P102P
c.306C>G